#612201 ATRIAL FIBRILLATION, FAMILIAL, 6; ATFB6 %612198 DIASTASIS RECTI AND WEAKNESS OF THE LINEA ALBA %612165 RETINITIS PIGMENTOSA 29; RP29 #612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 %612162 ANEURYSM, INTRACRANIAL BERRY, 8 Gene map locus 14q23 %612161 ANEURYSM, INTRACRANIAL BERRY, 7 Gene map locus 11q24-q25 #612160 HISTIOCYTOMA, ANGIOMATOID FIBROUS Gene map locus 2q32.3-q34 #612158 CARDIOMYOPATHY, DILATED, 1AA; CMD1AA Gene map locus 1q42-q43 #612138 EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA Gene map locus 8q24 #612132 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT Gene map locus 14q13 #612124 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12 Gene map locus 11p15.1 612119 TREHALASE DEFICIENCY Gene map locus 11q23 %612114 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 11; BMND11 Gene map locus 6q25 %612113 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 10; BMND10 Gene map locus 8q24 %612110 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 9; BMND9 Gene map locus 13q14 #612109 OCULOAURICULAR SYNDROME Gene map locus 4p16.1 #612108 FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 1; FGQTL1 Gene map locus 2q24-q32 #612100 AUTISM, SUSCEPTIBILITY TO, 15; AUTS15 Gene map locus 7q35-q36 %612099 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 2 Gene map locus 9p21 #612098 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11 Gene map locus 15q14 %612097 DEAFNESS, UNILATERAL, WITH DELAYED ENDOLYMPHATIC HYDROPS %612096 OTOSCLEROSIS 8; OTSC8 Gene map locus 9p13.1-p21.11 #612095 RETINITIS PIGMENTOSA 41; RP41 Gene map locus 4p16.2-p12 %612089 HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM Gene map locus 13q13.1 #612079 ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME Gene map locus 7q32.1 #612076 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 2; UAQTL2 Gene map locus 4p16-p15.3 #612075 MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY Gene map locus 8q23.1 #612073 MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH METHYLMALONIC ACIDURIA Gene map locus 13q12.2-q13 #612069 AMYOTROPHIC LATERAL SCLEROSIS 10; ALS10 Gene map locus 1p36.2 #612067 DYSTONIA 16; DYT16 Gene map locus 2q31.3 #612052 LUNG CANCER SUSCEPTIBILITY 2; LNCR2 PERIPHERAL ARTERIAL OCCLUSIVE DISEASE 2, INCLUDED; PAOD2, INCLUDED Gene map locus 15q24, 15q24 #612042 RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1; RRQTL1 Gene map locus 4p16.3 %612030 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 9; CHDS9 Gene map locus 8p22 #612020 SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE; SPG39 Gene map locus 19p13.3 #612018 CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA Gene map locus 10q23.13 %612017 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 3; IHPS3 Gene map locus 11q14-q22 #612016 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9; SCAR9 Gene map locus 1q42.2 #612015 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N Gene map locus 15q15.1, 3p21.1 #612011 CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13 Gene map locus 12q24 %612010 CELIAC DISEASE, SUSCEPTIBILITY TO, 12; CELIAC12 Gene map locus 6q25.3 %612009 CELIAC DISEASE, SUSCEPTIBILITY TO, 11; CELIAC11 Gene map locus 3q28 %612008 CELIAC DISEASE, SUSCEPTIBILITY TO, 10; CELIAC10 Gene map locus 3q25-q26 %612007 CELIAC DISEASE, SUSCEPTIBILITY TO, 9; CELIAC9 Gene map locus 3p21 %612006 CELIAC DISEASE, SUSCEPTIBILITY TO, 8; CELIAC8 Gene map locus 2q11-q12 %612005 CELIAC DISEASE, SUSCEPTIBILITY TO, 7; CELIAC7 #612004 THROMBOCYTOPENIA 4; THC4 %612001 CHROMOSOME 15q13.3 MICRODELETION SYNDROME Gene map locus 15q13.3 %611962 HUNTER-MACDONALD SYNDROME 611961 STEVENSON-CAREY SYNDROME #611960 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7 Gene map locus 1q32.1 %611959 PROSTATE CANCER, HEREDITARY, 15; HPC15 Gene map locus 19q13.4 %611958 PROSTATE CANCER, HEREDITARY, 14; HPC14 Gene map locus 11q13 #611955 PROSTATE CANCER, HEREDITARY, 11; HPC11 Gene map locus 17q12 #611953 MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11 Gene map locus 20p11.2 %611948 KNOBLOCH SYNDROME, TYPE III Gene map locus 17q11.2 %611945 SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT; SPG37 Gene map locus 8p21.1-q13.3 %611944 LYMPHEDEMA, HEREDITARY, IB Gene map locus 6q16.2-q22.1 611943 RIDDLE SYNDROME #611942 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6; EIG6 Gene map locus 16p13.3 #611938 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2 Gene map locus 1p13.3-p11 %611936 CHROMOSOME 3q29 MICRODUPLICATION SYNDROME Gene map locus 3q29 %611934 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 5; EIG5 Gene map locus 10p11.22 611929 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III #611928 PROSTATE CANCER, HEREDITARY, 13; HPC13 Gene map locus 10q11.2 %611926 IMMUNODEFICIENCY, GONADAL DYSGENESIS, AND PULMONARY FIBROSIS %611920 C-REACTIVE PROTEIN QUANTITATIVE TRAIT LOCUS Gene map locus 10q23-q24 %611918 DEAFNESS, AUTOSOMAL RECESSIVE 72; DFNB72 Gene map locus 19p13.3 %611913 AUTISM, SUSCEPTIBILITY TO, 14; AUTS14 Gene map locus 16p11.2 %611907 EPISODIC ATAXIA, TYPE 7; EA7 Gene map locus 19q13 %611897 NANOPHTHALMOS 3; NNO3 Gene map locus 2q11-q14 #611895 AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9 Gene map locus 14q11 %611892 ANEURYSM, INTRACRANIAL BERRY, 6 Gene map locus 9p21 %611891 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 3 Gene map locus 9p21 #611890 LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE; LAAHD Gene map locus 9q34 611886 MESOMELIC DYSPLASIA, CAMERA TYPE #611884 CILIARY DYSKINESIA, PRIMARY, 7 Gene map locus 7p21 #611881 ALDOLASE A DEFICIENCY Gene map locus 16p11.2 #611880 CARDIOMYOPATHY, DILATED, 2A; CMD2A Gene map locus 19q13.4 #611879 CARDIOMYOPATHY, DILATED, 1Z; CMD1Z Gene map locus 3p21.3-p14.3 #611878 CARDIOMYOPATHY, DILATED, 1Y; CMD1Y Gene map locus 15q22.1 #611876 BRUGADA SYNDROME 4 Gene map locus 10p12 #611875 BRUGADA SYNDROME 3 Gene map locus 12p13.3 #611868 PROSTATE CANCER, HEREDITARY, 12; HPC12 Gene map locus 2p15 #611867 CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL Gene map locus 22q11.2 %611863 MICROTIA WITH NASOLACRIMAL DUCT IMPERFORATION AND EYE COLOBOMA Gene map locus 4p16-p15 #611862 WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1; WBCQ1 Gene map locus 1q21-q22 #611860 SECKEL SYNDROME 4; SCKL4 Gene map locus 21q22.3 #611820 LONG QT SYNDROME 11; LQT11 Gene map locus 7q21-q22 #611819 LONG QT SYNDROME 10; LQT10 Gene map locus 11q23 #611818 LONG QT SYNDROME 9; LQT9 Gene map locus 3p25 %611816 TEMPLE-BARAITSER SYNDROME #611812 SEX REVERSAL, FEMALE, WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS; SERKAL Gene map locus 1p35 #611809 BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB Gene map locus 11q13 611808 TREMOR, HEREDITARY ESSENTIAL, AND IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS; ETINPH #611804 ELLIPTOCYTOSIS 1; EL1 Gene map locus 1p36.2-p34 #611788 AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6 #611783 ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4 Gene map locus 2p21-p16 #611777 BRUGADA SYNDROME 2 Gene map locus 3p22.3 #611775 KAWASAKI DISEASE Gene map locus 19q13.2 #611773 ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS; HANAC Gene map locus 13q34 #611771 LIPOPROTEIN GLOMERULOPATHY; LPG Gene map locus 19q13.2 #611762 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2; FCAS2 Gene map locus 19q13.4 #611755 LEBER CONGENITAL AMAUROSIS, TYPE X; LCA10 Gene map locus 12q21.3 #611742 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9; SHEP9 Gene map locus 20q11.2 %611738 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 7; BMND7 Gene map locus 20p12.3 611733 DAUWERSE-PETERS SYNDROME #611726 EPILEPSY, PROGRESSIVE MYOCLONIC 3; EPM3 Gene map locus 7q11.21 %611724 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 8; SHEP8 Gene map locus 6p25.3 #611722 KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY Gene map locus 10q22.1 #611721 COMBINED SAPOSIN DEFICIENCY Gene map locus 10q22.1 #611719 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5 Gene map locus 3q23 #611718 HYPOMAGNESEMIA 4, RENAL; HOMG4 Gene map locus 4q25 %611717 SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY AND DISTINCTIVE SPEECH %611706 MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 12; MGR12 Gene map locus 10q22-q23 #611705 MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY Gene map locus 2q31 611702 SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE %611694 DYSTONIA WITH CEREBELLAR ATROPHY; DYTCA #611664 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7; SHEP7 Gene map locus 12q22 611650 PERIPAPILLARY ATROPHY, BETA TYPE; PPAB %611644 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 9; HSCR9 Gene map locus 4q31.3-q32.3 #611638 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5; MCOPCB5 Gene map locus 7q36 %611637 PRIMARY LATERAL SCLEROSIS, ADULT %611634 FEBRILE CONVULSIONS, FAMILIAL, 9; FEB9 Gene map locus 3p24.2-p23 %611631 EPILEPSY, FAMILIAL TEMPORAL LOBE, 4; ETL4 Gene map locus 9q21-q22 %611630 EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE; FMTLE Gene map locus 4q13.2-q21.3 #611618 ARTHROPATHY, TENDINOUS CALCINOSIS, AND PROGEROID FEATURES #611615 CARDIOMYOPATHY, DILATED, 1X; CMD1X Gene map locus 9q31 #611603 LISSENCEPHALY 3; LIS3 Gene map locus 12q12-q14 %611598 CELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 5, INCLUDED; AIS5, INCLUDED Gene map locus 4q27 #611597 CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1 Gene map locus 3q21-q25 #611590 RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA RENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY, INCLUDED Gene map locus 17q21-q22 #611588 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; LGMD2M Gene map locus 9q31 #611584 WAARDENBURG SYNDROME, TYPE IIE; WS2E Gene map locus 22q13 %611572 OTOSCLEROSIS 7; OTSC7 Gene map locus 6q13-q16.1 %611571 OTOSCLEROSIS 4; OTSC4 Gene map locus 16q22.1-q23.1 #611561 MECKEL SYNDROME, TYPE 5; MKS5 #611560 JOUBERT SYNDROME 7; JBTS7 Gene map locus 16q12.2 #611556 GLYCOGEN STORAGE DISEASE 0, MUSCLE Gene map locus 19q13.3 611555 RENAL TUBULAR ACIDOSIS, DISTAL, WITH NEPHROCALCINOSIS, SHORT STATURE, MENTAL RETARDATION, AND DISTINCTIVE FACIES #611554 LEOPARD SYNDROME 2 Gene map locus 3p25 #611553 NOONAN SYNDROME 5; NS5 Gene map locus 3p25 #611548 PREMATURE OVARIAN FAILURE 5; POF5 Gene map locus 7q35 #611547 STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9 Gene map locus 12q14.3 #611544 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3; CATCN3 Gene map locus 22q11.2-q12.1 %611543 CAVITARY OPTIC DISC ANOMALIES %611536 MAJOR AFFECTIVE DISORDER 6; MAFD6 Gene map locus 6q23-q24 %611535 MAJOR AFFECTIVE DISORDER 5; MAFD5 Gene map locus 2q22-q24 #611528 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12 Gene map locus 17q21 #611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6 Gene map locus 6q16.1 %611522 INTRAOCULAR PRESSURE QUANTITATIVE TRAIT LOCUS; IOPQTL #611521 PROTEIN-TYROSINE KINASE 2 DEFICIENCY Gene map locus 19p13.2 %611515 FEBRILE CONVULSIONS, FAMILIAL, 7; FEB7 #611498 NEPHRONOPHTHISIS 7; NPHP7 Gene map locus 16p13.3 #611497 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6 Gene map locus 17q21.3 %611494 ATRIAL FIBRILLATION, FAMILIAL, 5; ATFB5 Gene map locus 4q25 #611493 ATRIAL FIBRILLATION, FAMILIAL, 4; ATFB4 #611490 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4; OPTB4 Gene map locus 16p13 #611489 CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY CORTICOSTEROID-BINDING GLOBULIN, ELEVATED, INCLUDED Gene map locus 14q32.1 #611488 MACULAR DEGENERATION, AGE-RELATED, 10; ARMD10 Gene map locus 9q32-q33 %611469 COLORECTAL CANCER, SUSCEPTIBILITY TO, 2; CRCS2 #611465 GALLBLADDER DISEASE 4 %611456 TREMOR, HEREDITARY ESSENTIAL, 3; ETM3 %611454 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 2; ALSFTD2 #611452 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE, 3; LAH3 Gene map locus 13q14.12-q14.2 %611451 DEAFNESS, AUTOSOMAL RECESSIVE 63; DFNB63 Gene map locus 11q13.2-q13.3 #611431 NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME; NFLS Gene map locus 15q13.2 611426 TENTED EYEBROWS #611407 CARDIOMYOPATHY, DILATED, 1W; CMD1W Gene map locus 10q22.1-q23 %611403 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6 Gene map locus 17q21 #611391 CATARACT, CORTICAL, JUVENILE-ONSET Gene map locus 20p12.1-p11.23 %611390 ATAXIA, SPASTIC, 3, AUTOSOMAL RECESSIVE; SPAX3 %611384 PLASMODIUM FALCIPARUM FEVER EPISODES QUANTITATIVE TRAIT LOCUS 1 #611383 USHER SYNDROME, TYPE IID; USH2D Gene map locus 9q32-q34 %611382 KALA-AZAR, SUSCEPTIBILITY TO, 3 %611381 KALA-AZAR, SUSCEPTIBILITY TO, 2 #611378 MACULAR DEGENERATION, AGE-RELATED, 9; ARMD9 Gene map locus 19p13.3-p13.2 #611377 BRACHYDACTYLY, TYPE B2; BDB2 %611376 MUNGAN SYNDROME; MGS Gene map locus 8q23-q24 #611369 LETHAL CONGENITAL CONTRACTURAL SYNDROME 3; LCCS3 Gene map locus 19p13.3 %611364 MYOCLONIC EPILEPSY, JUVENILE, 4; EJM4 Gene map locus 5q12-q14 #611363 ATRIAL SEPTAL DEFECT 4; ASD4 Gene map locus 7p15-p14 %611311 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE %611308 PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL DOMINANT %611307 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L; LGMD2L Gene map locus 11p13-p12 %611302 ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE; SPAX2 Gene map locus 17p13 #611291 SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY, INCLUDED %611284 DYSTONIA, FOCAL, TASK-SPECIFIC; FTSD MUSICIAN DYSTONIA, INCLUDED #611283 ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY Gene map locus 11q25 #611277 FEBRILE CONVULSIONS, FAMILIAL, 8; FEB8 Gene map locus 5q31.1-q33.1 %611276 GLAUCOMA 1, OPEN ANGLE, H; GLC1H %611274 GLAUCOMA 1, OPEN ANGLE, N; GLC1N #611263 ASPHYXIATING THORACIC DYSTROPHY 2; ATD2 Gene map locus 3q24-q26 %611252 SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE; SPG32 %611247 MAJOR AFFECTIVE DISORDER 4; MAFD4 Gene map locus 16p12 %611242 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 5 #611228 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J; CMT4J Gene map locus 6q21 %611222 MICROPHTHALMIA, SYNDROMIC 10; MCOPS10 #611209 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg; CDG2G Gene map locus 17q25.1 %611185 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 6 #611182 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh; CDG2H Gene map locus 16q22.1 611174 HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY #611162 MALARIA, SUSCEPTIBILITY TO MALARIA, RESISTANCE TO, INCLUDED Gene map locus 19p13.3-p13.2, 1q32, 17q21-q22, 17cen-q11.2, 1q22, 11q23-q24, 1q21-q22, 7q11.2, 6p21.3, 4q28.2-q31.1, 2q14-q21 %611155 ALZHEIMER DISEASE 15; AD15 Gene map locus 3q22-q24 %611154 ALZHEIMER DISEASE 14; AD14 %611152 ALZHEIMER DISEASE 13; AD13 Gene map locus 1q25, 1q21 %611147 PAROXYSMAL NONKINESIGENIC DYSKINESIA 2; PNKD2 %611144 ABRAXAS BROTHER 1 Gene map locus 10q26.13 %611143 COILED-COIL DOMAIN-CONTAINING PROTEIN 98; CCDC98 Gene map locus 4q21.2 %611139 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8 Gene map locus 9p21 #611136 EPILEPSY, CHILDHOOD ABSENCE, 4; ECA4 Gene map locus 5q34-q35 #611134 MECKEL SYNDROME, TYPE 4; MKS4 MECKEL-LIKE CEREBRORENODIGITAL SYNDROME, INCLUDED Gene map locus 12q21.3 #611131 RETINITIS PIGMENTOSA 37 Gene map locus 15q23 #611126 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF Gene map locus 3q26 %611109 CINNAMON ODOR, PLEASANTNESS OF Gene map locus 4q32.3 %611107 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 4; MRT4 Gene map locus 1p21.1-p13.3 #611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; LBSL Gene map locus 1q25.1 #611102 DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY %611100 PROSTATE CANCER, HEREDITARY, 10; HPC10 Gene map locus 8q24 %611097 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 11; MRT11 Gene map locus 19q13.2-q13.3 %611096 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 10; MRT10 Gene map locus 16p12-q12 %611095 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9; MRT9 Gene map locus 14q11.2-q12 %611094 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8; MRT8 Gene map locus 10q22 #611093 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7 Gene map locus 8p12, 8p22 #611092 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6 Gene map locus 6q21 %611091 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5 Gene map locus 5p15-p14 %611090 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; MRT12 Gene map locus 1p34-p33 #611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE Gene map locus 17q23.3 #611081 INFLAMMATORY BOWEL DISEASE 10; IBD10 Gene map locus 2q37.1 %611073 ALZHEIMER DISEASE 12 Gene map locus 8p12-q22 #611067 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4 Gene map locus 1p36 #611064 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 Gene map locus 12q14.3 %611046 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2 Gene map locus 8q12-q13 #611040 MICROPHTHALMIA, POSTERIOR, WITH RETINITIS PIGMENTOSA, FOVEOSCHISIS, AND OPTIC DISC DRUSEN Gene map locus 11q23 #611038 MICROPHTHALMIA, ISOLATED 3; MCOP3 Gene map locus 18q21.3 %611031 EPISODIC KINESIGENIC DYSKINESIA 2; EKD2 Gene map locus 16q13-q22.1 #611022 DEAFNESS, AUTOSOMAL RECESSIVE, 24; DFNB24 Gene map locus 11q23 %611016 AUTISM, SUSCEPTIBILITY TO, 10; AUTS10 Gene map locus 7q36 %611015 AUTISM, SUSCEPTIBILITY TO, 9; AUTS9 Gene map locus 7q31 #611014 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 8; HYT8 Gene map locus 18q21.2 %611010 FIBROMATOSIS, GINGIVAL, 4; GINGF4 Gene map locus 11p15 %611004 SMOKING AS A QUANTITATIVE TRAIT LOCUS 2; SQTL2 Gene map locus 22q12 %611003 SMOKING AS A QUANTITATIVE TRAIT LOCUS 1; SQTL1 Gene map locus 10q22 %610997 PROSTATE CANCER, HEREDITARY, 9 Gene map locus 17q21-q22 #610992 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY Gene map locus 9q21.31 #610988 LEPROSY, SUSCEPTIBILITY TO, 4 #610984 COMPLEMENT FACTOR I DEFICIENCY GLOMERULONEPHRITIS WITH ISOLATED C3 DEPOSITS AND FACTOR I DEFICIENCY, INCLUDED #610978 CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM, INCLUDED Gene map locus 14q13 %610968 OSTEOGENESIS IMPERFECTA, TYPE VI %610967 OSTEOGENESIS IMPERFECTA, TYPE V #610965 XFE PROGEROID SYNDROME Gene map locus 16p13.3-p13.13 #610954 PITT-HOPKINS SYNDROME; PTHS Gene map locus 18q21.1 #610951 CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7 Gene map locus 4q28.1-q28.2 %610948 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 7 Gene map locus 3p14.1-q12.3, 3p14.1-q12.3 #610947 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2 Gene map locus 12p13.3-p11.2 #610938 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7 Gene map locus 7q11.2 #610927 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9 Gene map locus 1q32 %610926 TOOTH AGENESIS, SELECTIVE, 5; STHAG5 #610921 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3; SMDP3 Gene map locus 16p13.3 #610915 OSTEOGENESIS IMPERFECTA, TYPE VIII Gene map locus 1p34 #610913 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2 Gene map locus 8p21 %610910 PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED %610908 AUTISM, SUSCEPTIBILITY TO, 13; AUTS13 %610906 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 4 Gene map locus 1p31 #610905 AICARDI-GOUTIERES SYNDROME 5; AGS5 Gene map locus 3p21.3-p21.2 %610898 SUPRANUCLEAR PALSY, PROGRESSIVE, 3; PSNP3 Gene map locus 11p12-p11 #610896 BRANCHIOOTORENAL SYNDROME 2; BOR2 Gene map locus 19q13.3 #610883 POTOCKI-LUPSKI SYNDROME; PTLS Gene map locus 17p11.2 #610878 VESICOURETERAL REFLUX 2; VUR2 Gene map locus 3p12.3 %610873 MENARCHE, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENAQ1 Gene map locus 22q13 610871 SAKODA COMPLEX SAKODA SPECTRUM, INCLUDED #610854 OSTEOGENESIS IMPERFECTA, TYPE IIB Gene map locus 3p22 #610852 CILIARY DYSKINESIA, PRIMARY, 6 Gene map locus 7p14-p13 #610842 PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY Gene map locus 2p12 %610840 MITRAL VALVE PROLAPSE, MYXOMATOUS 3; MMVP3 Gene map locus 13q31.3-q32.1 %610839 OSTEOARTHRITIS, GENERALIZED, WITHOUT DYSPLASIA; GOA1 Gene map locus 2q33.3 %610838 AUTISM, SUSCEPTIBILITY TO, 12; AUTS12 %610836 AUTISM, SUSCEPTIBILITY TO, 11; AUTS11 Gene map locus 1q24.2 #610832 FANCONI ANEMIA, COMPLEMENTATION GROUP N Gene map locus 16p12 610830 POLYOSTEOLYSIS-HYPEROSTOSIS SYNDROME #610829 HOLOPROSENCEPHALY 9; HPE9 Gene map locus 2q14 #610828 HOLOPROSENCEPHALY 7; HPE7 Gene map locus 9q22.3 %610805 RENAL HYPODYSPLASIA, NONSYNDROMIC, 1 Gene map locus 1p33-p32 #610799 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1 INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST, INCLUDED Gene map locus 12q12, 11q23-q24 #610798 IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN Gene map locus 1q22 610797 EPIPHYSEAL DYSPLASIA, BAUMANN TYPE #610773 MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY Gene map locus 12q23 #610768 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M Gene map locus 9q34.11 #610765 ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE Gene map locus 11q24-q25 %610762 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 Gene map locus 12q23-q24 %610761 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5 Gene map locus 3q24-q26 %610760 CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2 Gene map locus 2p24-p22 #610759 CORNELIA DE LANGE SYNDROME 3; CDLS3 Gene map locus 10q25 #610758 CEREBROOCULOFACIOSKELETAL SYNDROME 4; COFS4 Gene map locus 19q13.2-q13.3 #610756 CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2 Gene map locus 19q13.2-q13.3 #610755 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4 Gene map locus 12p13 %610753 ALOPECIA AREATA 2 Gene map locus 16q11-q22 %610744 IRIS PATTERN #610743 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8 Gene map locus 6q25 #610738 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE, 3; SCN3 Gene map locus 1q21.3 #610733 NOONAN SYNDROME 4; NS4 Gene map locus 2p22-p21 #610725 NEPHROTIC SYNDROME, TYPE 3; NPHS3 Gene map locus 10q23 #610717 NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NLSDM Gene map locus 11p15.5 #610713 BRACHYDACTYLY-SYNDACTYLY SYNDROME Gene map locus 2q31-q32 %610708 OPTIC ATROPHY 5; OPA5 Gene map locus 22q12.1-q13.1 %610707 PSORIASIS SUSCEPTIBILITY 8 Gene map locus 16q #610706 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA Gene map locus 11q13 #610698 MACULAR DEGENERATION, AGE-RELATED, 4; ARMD4 Gene map locus 1q32 #610688 JOUBERT SYNDROME 6; JBTS6 Gene map locus 8q21.13-q22.1 #610687 NEMALINE MYOPATHY 7; NEM7 Gene map locus 14q12 %610685 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 2; SHFLD2 Gene map locus 6q14.1 #610682 OSTEOGENESIS IMPERFECTA, TYPE VII Gene map locus 3p22, 3p24.1-p22 610680 HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS #610678 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4 Gene map locus 16p11.2 %610676 AUTISM, SUSCEPTIBILITY TO, 7; AUTS7 Gene map locus 17q21 %610655 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4; HHT4 Gene map locus 7p14 #610651 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME, INCLUDED Gene map locus 2q21 %610649 BONE SIZE QUANTITATIVE TRAIT LOCUS 3 Gene map locus 8q24 #610644 PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, INCLUDED %610634 CATARACT, POSTERIOR POLAR, 5; CTPP5 Gene map locus 14q22-q23 #610629 DIAMOND-BLACKFAN ANEMIA 3 Gene map locus 10q22-q23 #610628 KALLMANN SYNDROME 4; KAL4 Gene map locus 3p21.1 #610618 ANGIOEDEMA, HEREDITARY, TYPE III; HAE III Gene map locus 5q33-qter #610612 LEBER CONGENITAL AMAUROSIS, TYPE XII; LCA12 Gene map locus 1q32.3 #610600 CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY Gene map locus 8q21 #610599 RETINITIS PIGMENTOSA 36; RP36 Gene map locus 17q22 #610582 DIABETES MELLITUS, TRANSIENT NEONATAL, 3 DIABETES MELLITUS, TYPE II, AUTOSOMAL DOMINANT, INCLUDED Gene map locus 11p15.1 #610551 HERPES SIMPLEX ENCEPHALITIS, UNC93B-DEFICIENT Gene map locus 11q13 #610549 DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS Gene map locus 19p13.2 #610543 CHROMOSOME 16p13.3 DELETION SYNDROME Gene map locus 16p13.3 %610542 MYASTHENIA, LIMB-GIRDLE, WITH TUBULAR AGGREGATES #610539 GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY Gene map locus 10q22.1 610536 GROWTH AND MENTAL RETARDATION, MANDIBULOFACIAL DYSOSTOSIS, MICROCEPHALY, AND CLEFT PALATE %610535 GLAUCOMA 1, OPEN ANGLE, M; GLC1M Gene map locus 5q22.1-q32 #610532 HYPOMYELINATION AND CONGENITAL CATARACT Gene map locus 7p15.3 #610508 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VII; MODY7 Gene map locus 2p25 #610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3 Gene map locus 12q13-q14 #610504 PRETERM PREMATURE RUPTURE OF THE MEMBRANES; PPROM Gene map locus 11q13.5 #610498 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2 Gene map locus 10q22.1 #610489 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 Gene map locus 17q23-q24 %610483 AGAMMAGLOBULINEMIA, MICROCEPHALY, AND SEVERE DERMATITIS #610478 RETINAL CONE DYSTROPHY 4; RCD4 Gene map locus 12p13.3 #610476 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11 Gene map locus 18q12.1 #610475 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 Gene map locus 2q31.2 #610474 CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME Gene map locus 4p16.3 #610460 THIOPURINE S-METHYLTRANSFERASE DEFICIENCY Gene map locus 6p22.3 #610455 TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; NFTC Gene map locus 7q21 %610452 MUTAGEN SENSITIVITY #610448 CHILBLAIN LUPUS; CHBL Gene map locus 3p21, 3p21.3-p21.2 #610446 BURULI ULCER, SUSCEPTIBILITY TO #610445 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1; CSNBAD1 #610444 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3 610442 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE %610441 TESTICULAR MICROLITHIASIS Gene map locus 4p15.31-p15.2 %610439 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 4 Gene map locus 2q33 %610438 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 3 Gene map locus 9p24-p22 %610430 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 2; WM2 Gene map locus 4q #610427 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B; CSNB2B Gene map locus 11q13.1 #610426 MICROPHTHALMIA, ISOLATED, WITH CATARACT 4 Gene map locus 22q11.2-q13.1 #610425 CATARACT, LAMELLAR 2 Gene map locus 22q11.2-q13.1 #610424 HEPATITIS B VIRUS, SUSCEPTIBILITY TO Gene map locus 21q22.1, 21q22.1 %610422 ALOPECIA-MENTAL RETARDATION SYNDROME 2 Gene map locus 3q26.2-q26.31 %610420 PREAURICULAR TAG, ISOLATED, AUTOSOMAL DOMINANT, 1 %610419 DEAFNESS, AUTOSOMAL RECESSIVE 68; DFNB68 %610402 ANEURYSM, INTRACRANIAL BERRY, 5 Gene map locus 2p15-q14 %610382 PROSOPAGNOSIA, HEREDITARY #610381 CONE-ROD DYSTROPHY 11; CORD11 Gene map locus 19p13.3 #610380 LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B Gene map locus 3p22 #610379 WEST NILE VIRUS, SUSCEPTIBILITY TO Gene map locus 3p21 #610377 MEVALONIC ACIDURIA MEVALONATE KINASE DEFICIENCY, INCLUDED #610374 DIABETES MELLITUS, TRANSIENT NEONATAL, 2 Gene map locus 11p15.1 #610370 DIARRHEA 4, MALABSORPTIVE, CONGENITAL %610361 OROFACIAL CLEFT 9 %610359 RETINITIS PIGMENTOSA 33; RP33 %610357 SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30 #610356 RETINAL CONE DYSTROPHY 3B; RCD3B #610353 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4 Gene map locus 8p21 610338 RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, FAMILIAL #610333 AICARDI-GOUTIERES SYNDROME 4; AGS4 Gene map locus 19p13.13 %610332 OCULOOTOFACIAL DYSPLASIA #610329 AICARDI-GOUTIERES SYNDROME 3; AGS3 Gene map locus 11q13.2 %610321 PROSTATE CANCER, HEREDITARY, 7 Gene map locus 15q12 %610320 MYOPIA 14 610319 RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA #610313 COLD-INDUCED SWEATING SYNDROME 2; CISS2 Gene map locus 11q13.3 #610297 PARKINSON DISEASE 13; PARK13 Gene map locus 2p12 %610295 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 3 %610294 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 2 #610293 GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY Gene map locus 1q23.2 #610283 CONE-ROD DYSTROPHY 10; CORD10 Gene map locus 1q22 #610282 RETINITIS PIGMENTOSA 35; RP35 Gene map locus 1q22 %610279 PACHYGYRIA, FRONTOTEMPORAL #610269 BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2; BULN2 ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 2; INCLUDED; ANON2, INCLUDED #610265 DEAFNESS, AUTOSOMAL RECESSIVE 67; DFNB67 Gene map locus 6p21.3 %610262 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 6 Gene map locus 5p13-q12 %610261 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 5 Gene map locus 20q11-q13 %610260 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 2 Gene map locus 16p13-p12 #610256 APHAKIA, CONGENITAL PRIMARY Gene map locus 1p32 #610253 CHROMOSOME 9q SUBTELOMERIC DELETION SYNDROME Gene map locus 9q34.3 #610251 ALCOHOL SENSITIVITY, ACUTE HANGOVER, SUSCEPTIBILITY TO, INCLUDED #610250 SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT; SPG31 Gene map locus 2p11.2 %610248 DEAFNESS, AUTOSOMAL RECESSIVE 65; DFNB65 Gene map locus 20q13.2-q13.3 %610247 ESOPHAGITIS, EOSINOPHILIC Gene map locus 7q11.2 %610246 SPINOCEREBELLAR ATAXIA 28; SCA28 Gene map locus 18p11.22-q11.2 %610245 SPINOCEREBELLAR ATAXIA 23; SCA23 Gene map locus 20p13-p12.3 #610244 SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33 Gene map locus 10q24.2 %610239 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 4 Gene map locus 4q32.3 %610234 SYNPOLYDACTYLY 3 Gene map locus 14q11.2-q12 #610233 HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME; HHS Gene map locus 2q24-q31 #610227 SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS Gene map locus 17q25.3 #610220 DEAFNESS, AUTOSOMAL RECESSIVE 59; DFNB59 Gene map locus 2q31.1-q31.3 #610217 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2; NBIA2 Gene map locus 22q13.1 %610213 ANEURYSM, INTRACRANIAL BERRY, 4 Gene map locus 5p15.2-p14.3 %610212 DEAFNESS, AUTOSOMAL RECESSIVE 66; DFNB66 Gene map locus 6p22.3-p21.2 %610209 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 11 %610208 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10 #610205 ALAGILLE SYNDROME 2; ALGS2 Gene map locus 1p13-p11 610204 OLIVOPONTOCEREBELLAR HYPOPLASIA, FETAL-ONSET #610202 CATARACT, PULVERULENT, JUVENILE-ONSET CATARACT, CONGENITAL, CERULEAN TYPE, 4, INCLUDED; CCA4, INCLUDED Gene map locus 16q22-q23 #610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM Gene map locus 9p24.3-p23 #610198 3-@METHYLGLUTACONIC ACIDURIA, TYPE V Gene map locus 3q26.3 #610193 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; ARVD10 Gene map locus 18q12.1-q12.2 #610189 SENIOR-LOKEN SYNDROME 6; SLSN6 Gene map locus 12q21.3 #610188 JOUBERT SYNDROME 5; JBTS5 Gene map locus 12q21.3 #610187 DIAPHRAGMATIC HERNIA 3 Gene map locus 8q23 %610185 CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, AND QUADRUPEDAL LOCOMOTION Gene map locus 17p #610181 AICARDI-GOUTIERES SYNDROME 2; AGS2 Gene map locus 13q14-q21 %610170 KYPHOSCOLIOSIS 1 Gene map locus 5p13 #610168 LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B Gene map locus 3p22 #610163 IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA Gene map locus 1q22-q23 %610158 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2; FECD2 %610156 MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS #610155 DIABETES MELLITUS, INSULIN-DEPENDENT, 19; IDDM19 Gene map locus 2q24 %610154 DEAFNESS, AUTOSOMAL RECESSIVE 44; DFNB44 Gene map locus 7p14.1-q11.22 #610153 DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 Gene map locus 5q13.1 #610149 MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7 MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO, INCLUDED Gene map locus 10q25.3-q26.2 %610143 DEAFNESS, AUTOSOMAL RECESSIVE 62; DFNB62 Gene map locus 12p13.2-p11.23 #610141 QT INTERVAL, VARIATION IN Gene map locus 1q23.3 %610140 HEART-HAND SYNDROME, SLOVENIAN TYPE 610136 DEVRIENDT SYNDROME #610131 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 4; PEOA4 Gene map locus 17q23-q24 #610127 CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 NEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL, INCLUDED Gene map locus 11p15.5 #610125 MICROPHTHALMIA, SYNDROMIC 5; MCOPS5 Gene map locus 14q21-q22 %610114 STATURE QUANTITATIVE TRAIT LOCUS 8 Gene map locus 9q22 #610102 COMPLEMENT COMPONENT 7 DEFICIENCY Gene map locus 5p13 %610100 GIANT AXONAL NEUROPATHY, AUTOSOMAL DOMINANT %610099 MYOPATHY, DISTAL 3; MPD3 Gene map locus 8p22-q11 #610093 MICROPHTHALMIA, ISOLATED 2; MCOP2 Gene map locus 14q24.3 #610092 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3 MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES, INCLUDED Gene map locus 14q24.3 #610090 PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY Gene map locus 17q21.32 %610071 HYPERPARATHYROIDISM 3; HRPT3 Gene map locus 2p14-p13.3 #610069 POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2 Gene map locus 10q22.3 %610066 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 8 Gene map locus 20q13 %610065 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 7 Gene map locus 20p12 %610064 OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1 Gene map locus Chr.17 #610048 CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD Gene map locus 12q13.2 #610042 CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME Gene map locus 7q35-q36 %610031 POLYMICROGYRIA, UNILATERAL #610024 RETINAL CONE DYSTROPHY 3A; RCD3A Gene map locus 12p13 610023 BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS %610021 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7 %610019 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 Gene map locus 3p22-p21 #610017 MULTIPLE SYNOSTOSES SYNDROME 2; SYNS2 #610015 GLUTAMINE DEFICIENCY, CONGENITAL Gene map locus 1q31 #610006 2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY Gene map locus 10q25-q26 #610003 CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT Gene map locus 8pter-p22 610001 ARTHROGRYPOSIS MULTIPLEX WITH DEAFNESS, INGUINAL HERNIAS, AND EARLY DEATH %609995 MYOPIA 12 Gene map locus 2q37.1 %609994 MYOPIA 11 Gene map locus 4q22-q27 %609993 OSTEOSCLEROSIS WITH ICHTHYOSIS AND PREMATURE OVARIAN FAILURE %609990 TRICHOSCYPHODYSPLASIA %609989 METAPHYSEAL CHONDRODYSPLASIA WITH CONE-SHAPED EPIPHYSES, NORMAL HAIR, AND NORMAL HANDS %609985 PANIC DISORDER 3 Gene map locus 4q31-q34 %609981 NATURAL KILLER CELL DEFICIENCY, FAMILIAL ISOLATED Gene map locus 8p11.23-q11.21 #609975 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4 Gene map locus 4q22-q26 #609968 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5 Gene map locus 19p13.2 %609965 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 53; DFNA53 Gene map locus 14q11.2-q12 %609958 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 3 Gene map locus 2p16 %609955 FIBROMATOSIS, GINGIVAL, 3; GINGF3 Gene map locus 2p23.3-p22.3 %609954 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 4 Gene map locus 3p24-p21 %609952 DEAFNESS, AUTOSOMAL RECESSIVE 55; DFNB55 Gene map locus 4q12-q13.2 %609946 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 47 Gene map locus 2p25.1-p24.3 609945 BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA 609944 ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVE FACIAL FEATURES 609943 HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES #609942 NOONAN SYNDROME 3 Gene map locus 12p12.1 %609941 DEAFNESS, AUTOSOMAL RECESSIVE 51; DFNB51 Gene map locus 11p13-p12 %609940 MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY Gene map locus 9p22-p21 %609939 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6 Gene map locus 16p12.3-q12.2 #609924 AMINOACYLASE 1 DEFICIENCY Gene map locus 3p21.1 #609923 RETINITIS PIGMENTOSA 31; RP31 Gene map locus 9p21 %609919 GALLBLADDER DISEASE 3 Gene map locus 1p34.3 %609918 GALLBLADDER DISEASE 2 Gene map locus 1p36.21 %609915 CARDIOMYOPATHY, DILATED, 1Q; CMD1Q Gene map locus 7q22.3-q31.1 %609913 RETINITIS PIGMENTOSA 32; RP32 Gene map locus 1p21.3-p13.3 #609909 CARDIOMYOPATHY, DILATED, 1P; CMD1P Gene map locus 6q22.1 %609903 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 5 Gene map locus 13q32 %609893 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3; CHNG3 Gene map locus 15q25.3-q26.1 #609889 ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY Gene map locus 11p13 %609888 LEPROSY, SUSCEPTIBILITY TO, 1 Gene map locus 10p13 #609887 GLAUCOMA 1, OPEN ANGLE, G; GLC1G Gene map locus 5q21.3-q22.1 #609886 GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA Gene map locus 16p12.3 %609876 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 6; BMND6 Gene map locus 21q22.13-qter #609830 ABDOMINAL BODY FAT DISTRIBUTION Gene map locus 20q13.1-q13.2, 3p25, 2p23.3 #609823 DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28 Gene map locus 22q13.1 %609822 STATURE QUANTITATIVE TRAIT LOCUS 7 Gene map locus 1p21 #609821 BLEEDING DISORDER DUE TO P2RY12 DEFECT Gene map locus 3q24-q25 #609820 ERYTHROCYTOSIS, FAMILIAL, 3 Gene map locus 1q42-q43 %609817 VASCULITIS, LYMPHOCYTIC, CUTANEOUS SMALL VESSEL %609815 ZYGODACTYLY 1 Gene map locus 3p21.31 #609814 COMPLEMENT FACTOR H DEFICIENCY MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, TYPE II, WITH COMPLEMENT FACTOR H DEFICIENCY, INCLUDED Gene map locus 1q32 #609813 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3; SCDO3 Gene map locus 7p22 #609812 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, WITH EXOCRINE DYSFUNCTION; MODY8 Gene map locus 9q34.3 609808 HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS %609800 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 4 Gene map locus 2p24 #609796 PEELING SKIN SYNDROME, ACRAL TYPE Gene map locus 15q15.2 %609790 ALZHEIMER DISEASE 11 Gene map locus 9p22.1 %609782 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 2 %609781 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 #609757 WILLIAMS-BEUREN REGION DUPLICATION SYNDROME #609755 CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3 Gene map locus 2q33 %609754 CELIAC DISEASE, SUSCEPTIBILITY TO, 2; CELIAC2 Gene map locus 5q31-q33 #609753 CELIAC DISEASE, SUSCEPTIBILITY TO, 4; CELIAC4 Gene map locus 19p13.1 %609750 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 4; EIG4 Gene map locus 10q25-q26 %609745 GLAUCOMA 1, OPEN ANGLE, I; GLC1I Gene map locus 15q11-q13 #609741 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2; CATCN2 Gene map locus 22q11.2-q12.2 #609734 PROOPIOMELANOCORTIN DEFICIENCY %609727 SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29 Gene map locus 1p31.1-p21.1 #609706 DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53 #609698 THYROID HORMONE METABOLISM, ABNORMAL Gene map locus 9q22.2 %609670 MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 9 %609657 BONE SIZE QUANTITATIVE TRAIT LOCUS 2 Gene map locus 5q %609656 BONE SIZE QUANTITATIVE TRAIT LOCUS 1 Gene map locus 17q23 609655 TALO-PATELLO-SCAPHOID OSTEOLYSIS, SYNOVITIS, AND SHORT FOURTH METACARPALS 609654 SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS %609649 TRICHILEMMAL CYST 1; TRICY1 Gene map locus 3p24-p21.2 %609647 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 46; DFNB46 Gene map locus 18p11.32-p11.31 %609646 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 42; DFNB42 %609643 NGUYEN SYNDROME %609640 FRIAS SYNDROME #609638 EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC Gene map locus 6p24 #609637 HOLOPROSENCEPHALY 5; HPE5 Gene map locus 13q32 %609636 ALZHEIMER DISEASE 10 Gene map locus 7q36 #609634 MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3 Gene map locus 2q24 %609633 MAJOR AFFECTIVE DISORDER 3; MAFD3 Gene map locus 21q22.13 %609630 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 1 Gene map locus 11q13.3 %609629 VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL DOMINANT #609628 MAJEED SYNDROME %609625 CHROMOSOME 10q DELETION SYNDROME Gene map locus 10q #609622 SHORT QT SYNDROME 3; SQT3 Gene map locus 17q23.1-q24.2 #609621 SHORT QT SYNDROME 2; SQT2 Gene map locus 11p15.5 #609620 SHORT QT SYNDROME 1; SQT1 Gene map locus 7q35-q36 609616 SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATE CALCIFICATIONS, AND DEAFNESS 609612 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, WITH SYNERGISTIC DIVERGENCE EXTERNAL OPHTHALMOPLEGIA, SYNERGISTIC DIVERGENCE, JAW WINKING, AND OCULOCUTANEOUS HYPOPIGMENTATION, INCLUDED #609597 PARIETAL FORAMINA 2; PFM2 Gene map locus 11p11.2 #609583 JOUBERT SYNDROME 4; JBTS4 Gene map locus 2q13 #609579 SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION %609578 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 2; RCM2 %609573 PHOTOPAROXYSMAL RESPONSE 3; PPR3 Gene map locus 7q32 %609572 PHOTOPAROXYSMAL RESPONSE 2; PPR2 Gene map locus 13q31.3 %609570 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 8 Gene map locus 5q21 %609569 PHOTOPAROXYSMAL RESPONSE; PPR PHOTOPAROXYSMAL RESPONSE 1, INCLUDED; PPR1, INCLUDED Gene map locus 6p21.1 %609566 PARIETAL FORAMINA 3; PFM3 #609560 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM Gene map locus 16q22 %609558 PROSTATE CANCER, HEREDITARY, 6 Gene map locus 22q12.3 #609549 NANOPHTHALMOS 2; NNO2 609545 OMPHALOCELE, DIAPHRAGMATIC HERNIA, AND RADIAL RAY DEFECTS %609541 SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY; SPOAN Gene map locus 11q13 609537 LIPOMYELOMENINGOCELE #609536 COMPLEMENT COMPONENT 5 DEFICIENCY #609535 DRUG METABOLISM, POOR, CYP2C19-RELATED MEPHENYTOIN, POOR METABOLISM OF, INCLUDED #609533 DEAFNESS, AUTOSOMAL RECESSIVE 23; DFNB23 Gene map locus 10q21-q22 #609532 HEPATITIS C VIRUS, SUSCEPTIBILITY TO HEPATITIS C VIRUS, RESISTANCE TO, INCLUDED Gene map locus 1q31-q32, 12q14, 3p21 #609529 IMMUNOGLOBULIN A DEFICIENCY 2; IGAD2 Gene map locus 17p11.2 #609528 CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME Gene map locus 22q11.2 #609524 FILAMINOPATHY, AUTOSOMAL DOMINANT 609515 IRIDOGONIODYSGENESIS AND SKELETAL ANOMALIES #609508 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED; DRRD, INCLUDED %609500 MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET %609470 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 2 Gene map locus 11p15 %609469 NEPHROPATHY, PROGRESSIVE, WITH DEAFNESS Gene map locus 11q24 609466 CLEFT PALATE, MIDFACIAL HYPOPLASIA, TRIANGULAR FACIES, AND SENSORINEURAL HEARING LOSS 609465 AL-GAZALI SYNDROME #609464 SARCOIDOSIS, EARLY-ONSET Gene map locus 16q12 #609460 GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Gene map locus 10q22.1 %609456 MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE %609454 SUPRANUCLEAR PALSY, PROGRESSIVE, 2; PSNP2 Gene map locus 1q31.1 #609452 MYOPATHY, MYOFIBRILLAR, ZASP-RELATED Gene map locus 10q22.2-q23.3 #609446 GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA; GEPD Gene map locus 10q22.3 609442 VALPROATE EMBRYOPATHY, SUSCEPTIBILITY TO #609441 CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES %609439 DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48 609438 MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIAL BLOCK %609432 SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION; MSSD %609428 TUKEL SYNDROME Gene map locus 21q22 %609425 CHROMOSOME 3q29 MICRODELETION SYNDROME Gene map locus 3q29 #609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO, INCLUDED Gene map locus 19q13.4, 19p13.3, 17q21.1-q21.2, 17q12, 17q11.2-q12, 17q11.2, 16p12.1-p11.2, 12q14, 10q11.1, 2q35 %609408 HOLOPROSENCEPHALY 8; HPE8 Gene map locus 14q13 #609404 PREECLAMPSIA/ECLAMPSIA 4; PEE4 %609403 PREECLAMPSIA/ECLAMPSIA 3; PEE3 Gene map locus 9p13 %609402 PREECLAMPSIA/ECLAMPSIA 2; PEE2 Gene map locus 2p25 %609400 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4; AIS4 Gene map locus 4q13-q21 %609384 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B; CFEOM3B %609378 AUTISM, SUSCEPTIBILITY TO, 6; AUTS6 Gene map locus 17q11 %609376 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 1; CATCN1 Gene map locus 19q13 609363 COLLOID CYSTS OF THIRD VENTRICLE %609354 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 5; BMND5 Gene map locus 11q23 #609352 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA 609345 CEREBRORENODIGITAL SYNDROME WITH LIMB MALFORMATIONS AND TRIRADIATE ACETABULA %609340 SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE; SPG28 Gene map locus 14q21.3-q22.3 #609338 CAROTID INTIMAL MEDIAL THICKNESS 1 #609334 CHROMOSOME 18 PERICENTRIC INVERSION %609325 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MINIEPIPHYSES %609324 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH SEVERE PROXIMAL FEMORAL DYSPLASIA #609322 RHABDOID TUMOR; RDT TERATOID TUMOR, ATYPICAL, INCLUDED %609320 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 9 %609319 HEMATOCRIT/HEMOGLOBIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 6 %609313 ERYTHROKERATODERMIA VARIABILIS 3 #609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H Gene map locus 12p11.2 #609310 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2 Gene map locus 3p21.3 #609308 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; LGMD2K Gene map locus 9q34.1 #609307 SPINOCEREBELLAR ATAXIA 27; SCA27 Gene map locus 13q34 %609306 SPINOCEREBELLAR ATAXIA 26; SCA26 #609304 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 Gene map locus 11p15.5 %609299 PROSTATE CANCER, HEREDITARY, 5 Gene map locus 3p26 609296 B-CELL IMMUNODEFICIENCY, DISTAL LIMB ANOMALIES, AND UROGENITAL MALFORMATIONS 609289 SYNCOPE, FAMILIAL NEUROCARDIOGENIC #609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3 Gene map locus 10q24 #609285 NEMALINE MYOPATHY 4; NEM4 CAP DISEASE, INCLUDED #609284 NEMALINE MYOPATHY 1; NEM1 #609283 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2 %609273 NEMALINE MYOPATHY 6; NEM6 %609271 KERATOCONUS 4; KTCN4 Gene map locus 2p24 %609270 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7 Gene map locus 11p15 %609266 LI-FRAUMENI SYNDROME 3 Gene map locus 1q23 #609265 LI-FRAUMENI SYNDROME 2; LFS2 Gene map locus 22q12.1 %609261 STUTTERING, FAMILIAL PERSISTENT 2; STUT2 Gene map locus 12q24.1 #609260 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2 Gene map locus 1p36.2 %609259 MYOPIA 10 Gene map locus 8p23 %609258 MYOPIA 9 Gene map locus 4q12 %609257 MYOPIA 8 Gene map locus 3q26 %609256 MYOPIA 7 Gene map locus 11p13 %609255 FEBRILE CONVULSIONS, FAMILIAL, 5; FEB5 Gene map locus 6q22-q24 #609254 SENIOR-LOKEN SYNDROME 5; SLSN5 Gene map locus 3q21.1 %609253 FEBRILE CONVULSIONS, FAMILIAL, 6; FEB6 Gene map locus 18p11.2 609250 HYPOTRICHOSIS, PROGRESSIVE PATTERNED SCALP, WITH WIRY HAIR, ONYCHOLYSIS, AND CLEFT LIP/PALATE #609242 KANZAKI DISEASE Gene map locus 22q11 #609241 SCHINDLER DISEASE, TYPE I ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE III, INCLUDED Gene map locus 22q11 #609227 GRISCELLI SYNDROME, TYPE 3; GS3 Gene map locus 2q37 %609223 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGER TYPE %609222 DANDY-WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE, AUTOSOMAL DOMINANT; ADDWOC #609220 BRUCK SYNDROME 2 Gene map locus 3q23-q24 %609218 FOVEAL HYPOPLASIA AND ANTERIOR SEGMENT DYSGENESIS Gene map locus 16q23.2-q24.2 #609200 MYOTILINOPATHY Gene map locus 5q31 %609197 GLUCOCORTICOID DEFICIENCY 3 %609195 SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26 Gene map locus 12p11.1-q14 #609192 LOEYS-DIETZ SYNDROME, TYPE 1A; LDS1A #609180 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F Gene map locus 17p13.1-p12 %609179 MIGRAINE WITH AURA, SUSCEPTIBILITY TO, 7 Gene map locus 15q11.2-q12 %609166 BRANCHIOGENIC-DEAFNESS SYNDROME %609165 ERYTHROKERATODERMA, RETICULAR %609164 UMBILICUS, FAMILIAL FLAT %609162 CZECH DYSPLASIA, METATARSAL TYPE %609161 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT; ADSD Gene map locus 5q13.3-q14.1 %609160 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 7 Gene map locus 10q22.3 %609153 PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK Gene map locus 2q35-q36 #609152 HYPERTHYROIDISM, NONAUTOIMMUNE Gene map locus 14q31 #609148 MALARIA, MILD, SUSCEPTIBILITY TO Gene map locus 6p21.3, 6p21.3 %609143 TIBIA, BOWING OF, WITH PSEUDARTHROSIS AND PECTUS EXCAVATUM #609141 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3; PPCD3 Gene map locus 10p11.2 #609140 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2; PPCD2 #609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH Gene map locus 22q13 #609135 APLASTIC ANEMIA Gene map locus 12q14, 5p15.33, 3q21-q28 %609129 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 Gene map locus 13q14-q21, 9q33-q34 %609128 ARTHROGRYPOSIS, DISTAL, TYPE 4; DA4 %609122 ANEURYSM, INTRACRANIAL BERRY, 3 Gene map locus 1p36.13-p34.3 %609115 LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G; LGMD1G Gene map locus 4q21 %609113 TELOMERE LENGTH, MEAN LEUKOCYTE Gene map locus 14q23.2 609070 HEMOGLOBIN, HIGH OXYGEN SATURATION OF #609069 DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS Gene map locus 10p12.3 #609065 CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HEREDITARY, DUTCH TYPE; HCHWAD AMYLOIDOSIS, CEREBROARTERIAL, HEREDITARY, ITALIAN TYPE, INCLUDED #609060 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1 Gene map locus 3q25.1-q26.2 #609057 NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS Gene map locus 11p15.5 #609056 AMISH INFANTILE EPILEPSY SYNDROME Gene map locus 2p11.2 %609055 CEROID LIPOFUSCINOSIS, NEURONAL, 9; CLN9 #609054 FANCONI ANEMIA, COMPLEMENTATION GROUP J Gene map locus 17q22 #609053 FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI %609052 SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4 #609049 PIERSON SYNDROME NEPHROTIC SYNDROME, CONGENITAL, WITH OR WITHOUT OCULAR ABNORMALITIES, INCLUDED Gene map locus 3p21 #609048 MELANOMA, CUTANEOUS MALIGNANT, 3; CMM3 Gene map locus 12q14 609047 SKELETAL DYSPLASIA, RHIZOMELIC, WITH RETINITIS PIGMENTOSA %609041 SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE; SPG27 Gene map locus 10q22.1-q24.1 #609040 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9 Gene map locus 12p11 %609039 NARCOLEPSY 3 Gene map locus 21q11.2 609037 MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY, AND SHORT STATURE %609033 POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1 Gene map locus 1q31-q32 #609029 EMANUEL SYNDROME #609027 INDIAN BLOOD GROUP SYSTEM; IN %609026 CATARACT, AGE-RELATED CORTICAL Gene map locus 6p12-q12 %609021 PERIPHERAL CONE DYSTROPHY #609016 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY Gene map locus 2p23 #609015 TRIFUNCTIONAL PROTEIN DEFICIENCY TRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY, INCLUDED Gene map locus 2p23, 2p23 609008 MARFANOID HABITUS WITH SITUS INVERSUS #609006 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 36; DFNB36 Gene map locus 1p36.3-p36.1 #608996 PREMATURE OVARIAN FAILURE 3; POF3 Gene map locus 3q23 %608995 DYSLEXIA, SUSCEPTIBILITY TO, 8; DYX8 Gene map locus 1p36-p34 %608988 ATRIAL FIBRILLATION, FAMILIAL, 2; ATFB2 Gene map locus 6q14-q16 %608984 ATAXIA, SENSORY, AUTOSOMAL DOMINANT Gene map locus 8p12-q12.1 #608983 CATARACT, CONGENITAL, CERULEAN TYPE, 3; CCA3 Gene map locus 2q33-q35 %608982 STATURE QUANTITATIVE TRAIT LOCUS 5 Gene map locus 3p26 608980 BIFID NOSE, RENAL AGENESIS, AND ANORECTAL MALFORMATIONS #608978 MEACHAM SYNDROME #608971 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE %608970 MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY, 2 #608967 LOEYS-DIETZ SYNDROME, TYPE 2A; LDS2A Gene map locus 9q33-q34 #608957 CD8 DEFICIENCY, FAMILIAL Gene map locus 2p12 %608940 SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY %608935 LUNG CANCER SUSCEPTIBILITY 1; LNCR1 Gene map locus 6q23-q25 %608932 KERATOCONUS 2; KTCN2 Gene map locus 16q22.3-q23.1 #608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY MYASTHENIC SYNDROME, CONGENITAL, WITH FACIAL DYSMORPHISM, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, INCLUDED Gene map locus 17p12-p11, 17p13-p12, 11p11.2-p11.1, 9q31.3-q32 #608930 MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL Gene map locus 17p13-p12, 2q33-q34, 2q24-q32 %608911 CHOANAL ATRESIA, POSTERIOR; PCA %608908 MYOPIA 6 Gene map locus 22q12 %608907 ALZHEIMER DISEASE 9 Gene map locus 19p13.2 %608906 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 4 Gene map locus 5p13 %608905 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 3 Gene map locus 6q12 %608904 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 2 Gene map locus 17p11 %608903 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 1 Gene map locus 16p13 #608902 DRUG METABOLISM, POOR, CYP2D6-RELATED DRUG METABOLISM, ULTRARAPID, CYP2D6-RELATED, INCLUDED #608901 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5 Gene map locus 3q13 #608898 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 Gene map locus 17q25.1 #608895 MACULAR DEGENERATION, AGE-RELATED, 3; ARMD3 Gene map locus 14q32.1 #608890 WAARDENBURG SYNDROME, TYPE IID Gene map locus 8q11 608885 CRYOHYDROCYTOSIS, STOMATIN-DEFICIENT, WITH MENTAL RETARDATION, SEIZURES, CATARACTS, AND MASSIVE HEPATOSPLENOMEGALY %608878 GENE EXPRESSION, VARIATION IN, QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20 Gene map locus 20q13 %608875 GENE EXPRESSION, VARIATION IN, QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 14 Gene map locus 14q32 #608874 OROFACIAL CLEFT 5 Gene map locus 4p16.1 #608864 OROFACIAL CLEFT 6 Gene map locus 1q32-q41 %608852 PULMONARY FUNCTION Gene map locus 6q21-q22 %608850 MACULAR DYSTROPHY, RETINAL, 3 #608840 MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D Gene map locus 22q12.3-q13.1 #608837 CARNEY COMPLEX VARIANT Gene map locus 17p13.1 #608836 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene map locus 1p32 %608831 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 2 Gene map locus 14q13-q21 %608816 MYOCLONIC EPILEPSY, JUVENILE, 3 Gene map locus 6p21 608814 LATERAL SEMICIRCULAR CANAL MALFORMATION, FAMILIAL, WITH EXTERNAL AND MIDDLE EAR ABNORMALITIES %608812 COLORECTAL CANCER, SUSCEPTIBILITY TO, 1; CRCS1 Gene map locus 9q22.32-q31.1 608811 METAPHYSEAL UNDERMODELING, SPONDYLAR DYSPLASIA, AND OVERGROWTH #608810 ALPHA-B CRYSTALLINOPATHY ALPHA-B CRYSTALLINOPATHY WITH CATARACT, INCLUDED Gene map locus 11q22.3-q23.1 608809 LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA; LACH #608808 TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1 Gene map locus 12q24 #608807 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J; LGMD2J Gene map locus 2q31 #608805 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY #608804 PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 1 Gene map locus 1q41-q42 #608800 SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT Gene map locus 6q22-q23 #608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E Gene map locus 20q13.13 %608796 MOYAMOYA DISEASE 3 Gene map locus 8q23 %608787 OTOSCLEROSIS 5; OTSC5 Gene map locus 3q22-q24 #608782 PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY Gene map locus 8q22.1 %608781 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 3 Gene map locus 1q21-q22 #608779 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E Gene map locus 16p #608776 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il; CDG1L Gene map locus 11q23 #608768 SPINOCEREBELLAR ATAXIA 8; SCA8 Gene map locus 13q21 #608765 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3; IS3 Gene map locus 8q12.1 608763 EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE %608762 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 3; EIG3 Gene map locus 9q32-q33 #608758 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10 CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE, 2, INCLUDED Gene map locus 12q23-q24.3 #608751 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8 Gene map locus 3p #608747 INSULIN-LIKE GROWTH FACTOR I DEFICIENCY Gene map locus 12q22-q24.1 %608742 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 4 Gene map locus 12p12.2-p12.1 #608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED Gene map locus 2p24-p23 608720 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, ADULT-ONSET, WITH ANOSMIA #608716 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5, WITH SIMPLIFIED GYRAL PATTERN, INCLUDED Gene map locus 1q31 %608710 WEGENER GRANULOMATOSIS Gene map locus 6p21.3 #608709 BARRAQUER-SIMONS SYNDROME Gene map locus 19p13.3 %608703 SPINOCEREBELLAR ATAXIA 25; SCA25 Gene map locus 2p21-p13 %608696 GLAUCOMA 1, OPEN ANGLE, K; GLC1K Gene map locus 20p12 %608695 GLAUCOMA 1, OPEN ANGLE, J; GLC1J Gene map locus 9q22 %608691 MAJOR DEPRESSIVE DISORDER 2 Gene map locus 15q25.3-q26.2 #608688 AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE, DEFICIENCY OF Gene map locus 2q35 %608687 SPINOCEREBELLAR ATAXIA 20; SCA20 Gene map locus 11p13-q11 #608681 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2; SCDO2 Gene map locus 15q26.1 #608673 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L Gene map locus 12q24 608670 ROBIN SEQUENCE WITH DISTINCTIVE FACIAL APPEARANCE AND BRACHYDACTYLY %608664 SECKEL SYNDROME 3; SCKL3 Gene map locus 14q21-q22 %608658 PROSTATE CANCER, HEREDITARY, 4 Gene map locus 7p11-q21 %608656 PROSTATE CANCER, HEREDITARY, 3 Gene map locus 20q13 #608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5 Gene map locus 1p13.1 %608653 DEAFNESS, AUTOSOMAL RECESSIVE 32; DFNB32 %608652 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 47; DFNA47 %608649 ICHTHYOSIS PREMATURITY SYNDROME %608647 CILIARY DYSKINESIA, PRIMARY, 5 Gene map locus 16p12.2-p12.1 %608646 CILIARY DYSKINESIA, PRIMARY, 4 Gene map locus 15q13.1-q15.1 %608645 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 31; DFNA31 #608644 CILIARY DYSKINESIA, PRIMARY, 3 Gene map locus 5p15-p14 #608643 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY Gene map locus 7p11 #608641 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 28; DFNA28 Gene map locus 8q22 %608638 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1 Gene map locus 3q25-q27 #608637 SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE Gene map locus 10q22.1 %608636 AUTISM, SUSCEPTIBILITY TO, 4; AUTS4 Gene map locus 15q11 #608634 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB; HMN2B Gene map locus 7q11.23 %608631 ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2 Gene map locus 17p13 #608629 JOUBERT SYNDROME 3; JBTS3 Gene map locus 6q23.3 #608627 AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8 Gene map locus 20q13.3 608624 MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA #608622 HYPERTENSION, DIASTOLIC, RESISTANCE TO Gene map locus 5q34 #608615 OLIGODONTIA-COLORECTAL CANCER SYNDROME Gene map locus 17q24 #608612 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB Gene map locus 1p34 #608611 RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY Gene map locus 2p11.2 %608600 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 1; FPLD1 #608594 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Gene map locus 9q34.3 %608591 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; CMT2G Gene map locus 12q12-q13.3 %608586 KERATOCONUS 3; KTCN3 Gene map locus 3p14-q13 %608585 BRACHIAL PALSY, FAMILIAL CONGENITAL #608584 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 Gene map locus 7p15-p14 %608583 ATRIAL FIBRILLATION, FAMILIAL, 1; ATFB1 Gene map locus 1q21.1, 10q22-q24 608580 MYOSIN, HEAVY CHAIN 16, SKELETAL MUSCLE, PSEUDOGENE; MYH16 Gene map locus 7q22 #608579 SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO TOXIC EPIDERMAL NECROLYSIS, SUSCEPTIBILITY TO Gene map locus 6p21.3, 6p21.3 #608578 CEREBROFRONTOFACIAL SYNDROME %608572 BURN-MCKEOWN SYNDROME 608571 ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY #608569 CARDIOMYOPATHY, DILATED, 1O; CMD1O Gene map locus 12p12.1 #608567 SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE; SSS1 Gene map locus 3p21 #608565 DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35 Gene map locus 14q24.3 %608562 POLYDACTYLY, POSTAXIAL, TYPE A4 Gene map locus 7q22 %608559 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20, IN CHILDREN Gene map locus 20pter-p11.2 %608558 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 16, IN CHILDREN Gene map locus 16p13 #608557 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2 #608556 LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO Gene map locus 1q41-q42 %608553 LEBER CONGENITAL AMAUROSIS, TYPE IX %608545 LARSEN-LIKE SYNDROME Gene map locus 6p25 %608543 SCHIZOPHRENIA 12 Gene map locus 1p36.2 %608542 ANEURYSM, INTRACRANIAL BERRY, 2 Gene map locus 19q13 #608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K Gene map locus 16p13.3 %608526 PERIODONTITIS, AGGRESSIVE, 2 Gene map locus 1q25 %608520 MAJOR DEPRESSIVE DISORDER 1 Gene map locus 12q22-q23.2 608518 OROFACIODIGITAL SYNDROME VII; OFD7 #608516 MAJOR DEPRESSIVE DISORDER; MDD SEASONAL AFFECTIVE DISORDER, INCLUDED; SAD, INCLUDED Gene map locus 15q25.3-q26.2, 13q14-q21, 12q22-q23.2, 12q21.1, 6p21.3-p21.2 608509 ALOPECIA UNIVERSALIS CONGENITA, XY GONADAL DYSGENESIS, AND LARYNGOMALACIA 608484 CONGENITAL CORNEAL OPACITIES, CORNEA GUTTATA, AND CORECTOPIA %608474 MYOPIA 5 Gene map locus 17q21-q22 #608471 CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A Gene map locus 5q31 #608470 CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I; CDB1 Gene map locus 5q31 %608462 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 8; HSCR8 Gene map locus 9q31 #608456 COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE Gene map locus 1p34.3-p32.1 %608454 KNOBLOCH SYNDROME, TYPE II %608448 INFLAMMATORY BOWEL DISEASE 9; IBD9 Gene map locus 3p26 %608447 CAROTID INTIMAL MEDIAL THICKNESS 2 Gene map locus 12q24 #608446 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 Gene map locus 1q25, 6q25.1, 1p34 %608445 SPEECH-SOUND DISORDER Gene map locus 3p12-q13 #608443 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3 Gene map locus 19p13.12 %608437 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 4 Gene map locus 12q24 608432 CRANIOSYNOSTOSIS, CALCIFICATION OF BASAL GANGLIA, AND FACIAL DYSMORPHISM %608423 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F; LGMD1F Gene map locus 7q32.1-q32.2 #608415 PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS Gene map locus 19q13.11, 17q23-q24 %608410 OBESITY, SUSCEPTIBILITY TO, ON CHROMOSOME 4 Gene map locus 4p15-p14 608406 VATER-LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, AND GROWTH DEFICIENCY #608404 PLATELET GLYCOPROTEIN IV DEFICIENCY Gene map locus 7q11.2 #608395 KARAK SYNDROME Gene map locus 22q13.1 %608394 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 43; DFNA43 #608393 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 6; MCPH6 Gene map locus 13q12.2 %608392 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3; AIS3 Gene map locus Chr.8 %608391 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2; AIS2 Gene map locus Chr.7 #608390 MYOTONIA, POTASSIUM-AGGRAVATED Gene map locus 17q23.1-q25.3 #608389 BRANCHIOOTIC SYNDROME 3; BOS3 Gene map locus 14q23 #608380 RETINITIS PIGMENTOSA 26; RP26 Gene map locus 2q31.2-q32.3 %608372 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 49; DFNA49 Gene map locus 1q21-q23 %608371 OROFACIAL CLEFT 4 Gene map locus 4q21-q31 %608367 MYOPIA 4 Gene map locus 7q36 #608363 MICRODUPLICATION 22q11.2 #608361 SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE Gene map locus 15q26.1 #608358 MYOPATHY, MYOSIN STORAGE Gene map locus 14q12 #608355 PARKES WEBER SYNDROME Gene map locus 5q13.3 #608354 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION Gene map locus 5q13.3 %608345 NYSTAGMUS 3, CONGENITAL, AUTOSOMAL DOMINANT; NYS3 #608340 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A #608328 WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT Gene map locus 15q21.1 #608323 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C Gene map locus 1p35 #608320 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1; ADCAD1 Gene map locus 15q26 %608318 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4 Gene map locus 14q32 %608316 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2 Gene map locus 2q21.1-q22 %608290 LELIS SYNDROME 608281 SCIMITAR ANOMALY, MULTIPLE CARDIAC MALFORMATIONS, AND CRANIOFACIAL AND CENTRAL NERVOUS SYSTEM ABNORMALITIES 608279 CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS 608278 GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGE JOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLAR ATROPHY #608266 PARATHYROID CARCINOMA Gene map locus 1q25-q31 %608265 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 39; DFNB39 Gene map locus 7q11.22-q21.12 %608264 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 40; DFNB40 Gene map locus 22q11.21-q12.1 608257 MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT %608251 PHOBIA, SPECIFIC Gene map locus Chr.14 %608244 OTOSCLEROSIS 3; OTSC3 Gene map locus 6p22.3-p21.3 #608236 SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT Gene map locus 8p23 #608233 HERMANSKY-PUDLAK SYNDROME 2; HPS2 Gene map locus 5q14.1 #608232 LEUKEMIA, CHRONIC MYELOID; CML Gene map locus 22q11.21 608227 CRANIOFACIAL ABNORMALITIES, CATARACTS, CONGENITAL HEART DISEASE, SACRAL NEURAL TUBE DEFECTS, AND GROWTH AND DEVELOPMENTAL RETARDATION %608224 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 41; DFNA41 Gene map locus 12q24.32-qter 608223 ASPIRIN RESISTANCE %608219 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 38 Gene map locus 6q26-q27 %608217 EPILEPSY, BENIGN NEONATAL, 3; EBN3 %608207 KALA-AZAR, SUSCEPTIBILITY TO, 1 Gene map locus 22q12 #608203 NEUTROPHIL IMMUNODEFICIENCY SYNDROME Gene map locus 22q12.3-q13.2 #608194 CONE-ROD DYSTROPHY 9; CORD9 Gene map locus 14q11 #608189 TROPICAL CALCIFIC PANCREATITIS Gene map locus 5q32 608184 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4 #608180 SYNPOLYDACTYLY 2; SPD2 Gene map locus 22q13.3 %608176 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 4 Gene map locus 10q #608175 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3; AITD3 Gene map locus 8q24.2-q24.3, 8q23-q24 %608174 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2 Gene map locus 5q31-q33 %608173 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 1 Gene map locus 6p11 #608161 MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET Gene map locus 11q13, 6p21.1-cen %608158 CoQ-RESPONSIVE OXPHOS DEFICIENCY %608156 NABLUS MASK-LIKE FACIAL SYNDROME %608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORT STATURE, AND SLENDER BONES #608149 UNIPARENTAL DISOMY, PATERNAL, CHROMOSOME 14 #608133 RETINITIS PIGMENTOSA 7; RP7 Gene map locus 6p21.1-cen 608118 ZINC IN BREAST MILK, REDUCED ZINC DEFICIENCY, NEONATAL, DUE TO LOW BREAST MILK ZINC, INCLUDED #608115 OVARIAN HYPERSTIMULATION SYNDROME Gene map locus 2p21-p16 #608106 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 Gene map locus 12q23-q24.1 %608105 EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP; EPRPDC Gene map locus 16p12-p11.2 #608104 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H Gene map locus 11pter-p15.5 #608099 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D Gene map locus 17q12-q21.33 %608098 HETEROTOPIA, PERIVENTRICULAR, ASSOCIATED WITH CHROMOSOME 5p ANOMALIES #608097 HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE Gene map locus 20q13.13 %608096 EPILEPSY, FAMILIAL TEMPORAL LOBE; ETL2 Gene map locus 12q22-q23.3 #608093 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J Gene map locus 11q23.3 %608091 JOUBERT SYNDROME 2; JBTS2 Gene map locus 11p12-q13.3 #608089 ENDOMETRIAL CANCER Gene map locus 2p16 %608088 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, WITH COUGH AND GASTROESOPHAGEAL REFLUX Gene map locus 3p24-p22 %608078 SCHIZOPHRENIA 11 Gene map locus 10q22.3 %608068 NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE 608063 BILE AND PANCREATIC DUCTS, COMPLETE ABSENCE OF #608056 LIPOATROPHY WITH DIABETES, HEPATIC STEATOSIS, HYPERTROPHIC CARDIOMYOPATHY, AND LEUKOMELANODERMIC PAPULES; LDHCP Gene map locus 1q21.2 %608051 MACULAR DYSTROPHY, RETINAL, 2 Gene map locus 4p16.3-p15.2 %608049 AUTISM, SUSCEPTIBILITY TO, 3 Gene map locus 13q14.2-q14.1 %608036 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 4 Gene map locus 5q34-q35.2 %608035 MELANOMA, CUTANEOUS MALIGNANT, 4 Gene map locus 1p22 %608033 NECROTIZING ENCEPHALOPATHY, ACUTE, AUTOSOMAL DOMINANT %608031 AMYOTROPHIC LATERAL SCLEROSIS 7 Gene map locus 20p13 %608030 AMYOTROPHIC LATERAL SCLEROSIS 6 Gene map locus 16q12 %608029 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 6; SCAR6 Gene map locus 20q11-q13 608028 THAI SYMPHALANGISM SYNDROME %608027 CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY Gene map locus 7q11-q21 %608026 HYPERTENSIVE NEPHROPATHY Gene map locus 9q31-q32 %608022 DIAPHANOSPONDYLODYSOSTOSIS #608013 GAUCHER DISEASE, PERINATAL LETHAL Gene map locus 1q21 %607967 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3; SLEN3 Gene map locus 11p15.5 %607966 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 2; SLEN2 Gene map locus 2q34-q35 %607965 SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 1; SLEN1 Gene map locus 10q22.3 %607949 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1 Gene map locus 2q35 #607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST, INCLUDED Gene map locus 19p13.3, 17q11.2-q12, 12q14, 11q23-q24, 6q23-q24, 2q37.1, 2q35 607944 COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA #607941 ATRIAL SEPTAL DEFECT 2; ASD2 Gene map locus 8p23.1-p22 %607936 EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE Gene map locus 12q13 #607932 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6 Gene map locus 14q22-q23 #607921 RETINITIS PIGMENTOSA 30; RP30 Gene map locus 17q25 #607920 CARDIOMYOPATHY, DILATED, WITH QUADRICEPS MYOPATHY #607907 DERMATOFIBROSARCOMA PROTUBERANS; DFSP #607906 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I Gene map locus 9q22 #607903 HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE; LAH Gene map locus 18q12 %607893 OVARIAN CANCER, EPITHELIAL, SUSCEPTIBILITY TO Gene map locus 3p25-p22 %607876 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2 Gene map locus 2p11.1-q12.2 #607872 MONOSOMY 1p36 SYNDROME #607864 CAUDAL DUPLICATION ANOMALY Gene map locus 16p13.3 607859 ANGIOMA, TUFTED %607857 PSORIASIS SUSCEPTIBILITY 9 Gene map locus 4q31-q34 #607855 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, INCLUDED Gene map locus 6q22-q23 %607853 PANIC DISORDER 2 Gene map locus 9q31 #607850 HAND OSTEOARTHRITIS; HOA Gene map locus 2p24-p23 #607847 NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS Gene map locus 1p22 %607842 AURAL ATRESIA, CONGENITAL Gene map locus 18q22.3-q23 #607841 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL, DUE TO MUTATION IN MYO1A DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 48, INCLUDED; DFNA48, INCLUDED Gene map locus 12q13-q15 #607836 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1; AIS1 Gene map locus 1p31 %607834 NEUROTICISM ANXIETY, INCLUDED Gene map locus 17q11.1-q12 #607832 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3; FSGS3 Gene map locus Chr.6 #607831 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K, INCLUDED Gene map locus 8q13-q21.1 %607829 MITRAL VALVE PROLAPSE, MYXOMATOUS 2; MMVP2 Gene map locus 11p15.4 #607823 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME Gene map locus 20q13.33 #607822 ALZHEIMER DISEASE 3 ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, INCLUDED Gene map locus 14q24.3 #607821 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 37; DFNB37 Gene map locus 6q13 #607812 CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD Gene map locus 14q21.1 #607801 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C Gene map locus 3p25 #607791 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D Gene map locus 1q22 #607785 JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML Gene map locus 17q11.2, 12q24.1, 5q31 #607778 ACROCAPITOFEMORAL DYSPLASIA; ACFD Gene map locus 2q33-q35 #607765 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 Gene map locus 16p12-p11.2 #607748 HYPERCHOLANEMIA, FAMILIAL; FHCA Gene map locus 1q42.1, 9q22.3, 9q12-q13 #607745 SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE Gene map locus 2q23-q24.3 #607736 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J Gene map locus 1q22 #607734 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F Gene map locus 8p21 607731 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2H %607728 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 2 Gene map locus 15q25.1-q26.1 607721 NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR #607706 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE Gene map locus 8q13-q21.1 607694 LEUKODYSTROPHY WITH OLIGODONTIA #607689 ANDERSON DISEASE Gene map locus 5q31.1 #607688 PARKINSON DISEASE 11; PARK11 Gene map locus 2q21.2 %607687 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3 Gene map locus 16q24.1 #607685 HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES Gene map locus 4q12 #607684 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E Gene map locus 8p21 %607683 DEAFNESS, AUTOSOMAL DOMINANT 52; DFNA52 Gene map locus 4q28 #607682 EPILEPSY, CHILDHOOD ABSENCE, 3 Gene map locus 3q26-qter #607681 EPILEPSY, CHILDHOOD ABSENCE, 2 Gene map locus 5q31.1-q33.1 #607678 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D Gene map locus 10q21.1-q22.1 #607677 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I Gene map locus 1q22 #607676 IRAK4 DEFICIENCY Gene map locus 12q12 %607674 CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY %607671 DYSTONIA 13, TORSION; DYT13 Gene map locus 1p36.32-p36.13 607665 TUBULOINTERSTITIAL NEPHRITIS WITH UVEITIS; TINU ACUTE TUBULOINTERSTITIAL NEPHRITIS, INCLUDED; ATIN, INCLUDED %607658 HYPOTRICHOSIS-OSTEOLYSIS-PERIODONTITIS-PALMOPLANTAR KERATODERMA SYNDROME %607656 CURLY HAIR-ACRAL KERATODERMA-CARIES SYNDROME #607655 SKIN FRAGILITY-WOOLLY HAIR SYNDROME Gene map locus 6p24 #607654 KERATOSIS PALMOPLANTARIS STRIATA III Gene map locus 12q13 %607644 CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY; CANDN1 Gene map locus 11p13-q12 #607641 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB; HMN7B Gene map locus 2p13 #607636 VAN BUCHEM DISEASE, TYPE 2 Gene map locus 11q13.4 #607634 OSTEOPETROSIS, AUTOSOMAL DOMINANT 1; OPTA1 Gene map locus 11q13.4 #607631 EPILEPSY, JUVENILE ABSENCE; JAE Gene map locus 6p12-p11, 3q26-qter #607628 EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENING Gene map locus 3q26-qter #607626 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS Gene map locus 3q28-q29 #607625 NIEMANN-PICK DISEASE, TYPE C2 Gene map locus 14q24.3 #607624 GRISCELLI SYNDROME, TYPE 2; GS2 Gene map locus 15q21 #607616 NIEMANN-PICK DISEASE, TYPE B NIEMANN-PICK DISEASE, TYPE E, INCLUDED Gene map locus 11p15.4-p15.1 #607602 ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS Gene map locus 17q21-q22, 12q13 %607600 EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS; EBSS #607598 LETHAL CONGENITAL CONTRACTURE SYNDROME 2; LCCS2 Gene map locus 12q13 607597 MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES %607596 PONTOCEREBELLAR HYPOPLASIA, TYPE 1 #607595 BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY, INCLUDED Gene map locus 13q34 #607594 ICOS DEFICIENCY Gene map locus 2q33 %607592 PROSTATE CANCER AGGRESSIVENESS QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 19 Gene map locus 19q %607584 SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE; SPG24 Gene map locus 13q14 607578 BREATH-HOLDING SPELLS #607572 LEPROSY, SUSCEPTIBILITY TO, 2 Gene map locus 6q25.2-q27 607569 MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT 607565 SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION %607561 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM WITH TOOTH ABNORMALITIES #607554 ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3 Gene map locus 11p15.5, 21q22.1 607552 MINICORE MYOPATHY, ANTENATAL ONSET, WITH ARTHROGRYPOSIS 607543 SPONDYLOMETAPHYSEAL DYSPLASIA WITH BOWED FOREARMS AND FACIAL DYSMORPHISM #607541 CORNEAL DYSTROPHY, AVELLINO TYPE; CDA Gene map locus 5q31 607540 SECRETORY DIARRHEA, MYOPATHY, AND DEAFNESS %607539 CAMPTOSYNPOLYDACTYLY, COMPLEX #607523 TOENAIL DYSTROPHY, ISOLATED Gene map locus 3p21.3 %607516 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 6 MIGRAINE, FAMILIAL HEMIPLEGIC, 4, INCLUDED; FHM4, INCLUDED Gene map locus 1q31 %607508 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 5 Gene map locus 19p13 #607507 PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO, 1; PSORAS1 Gene map locus 16q12, 6p21.3 607504 HEADACHE ASSOCIATED WITH SEXUAL ACTIVITY; HSA %607501 MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO, 4 Gene map locus 14q21.2-q22.3 %607499 BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1; BULN1 Gene map locus 11p13, 10p %607498 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 3 Gene map locus 6p21.1-p12.2 %607488 DYSTONIA 15, MYOCLONIC; DYT15 Gene map locus 18p11 #607487 CARDIOMYOPATHY, DILATED, 1N; CMD1N Gene map locus 17q12 #607486 KNOPS BLOOD GROUP SYSTEM; KN Gene map locus 1q32 #607485 FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS; FTLDU APHASIA, PRIMARY PROGRESSIVE, INCLUDED; PPA, INCLUDED Gene map locus 17q21.32 #607483 BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE Gene map locus 2q36.3 #607482 CARDIOMYOPATHY, DILATED, 1M; CMD1M Gene map locus 11p15.1 #607476 NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD Gene map locus 15q26 #607475 BOTHNIA RETINAL DYSTROPHY Gene map locus 15q26 #607473 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 Gene map locus 16p11.2 #607464 THYROID CARCINOMA, HURTHLE CELL Gene map locus 19p13.2-p13.1 #607459 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO SPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED; SCAE, INCLUDED Gene map locus 15q25, 10q24 %607458 SPINOCEREBELLAR ATAXIA 18; SCA18 Gene map locus 7q22-q32 #607457 GIL BLOOD GROUP Gene map locus 9p13 %607454 SPINOCEREBELLAR ATAXIA 21; SCA21 #607453 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 44; DFNA44 Gene map locus 3q28 #607450 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; ARVD8 Gene map locus 6p24 %607447 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 11 Gene map locus 11q24 %607446 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 6 Gene map locus 6q23-q25 #607432 LISSENCEPHALY 1; LIS1 SUBCORTICAL LAMINAR HETEROTOPIA, INCLUDED; SCLH, INCLUDED Gene map locus 17p13.3 #607426 COENZYME Q10 DEFICIENCY Gene map locus 1q42.2, 10p12.1, 9p13.3, 6q21, 4q21-q22 #607417 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2 Gene map locus 3p26.2 %607411 PATENT DUCTUS ARTERIOSUS #607398 GLUCOCORTICOID DEFICIENCY 2; GCCD2 Gene map locus 21q22.1 607395 STREPTOCOCCUS, GROUP A, SEVERITY OF INFECTION BY %607373 AUTISM, SUSCEPTIBILITY TO, 8; AUTS8 Gene map locus 3q25-q27 #607371 DYSTONIA, JUVENILE-ONSET #607364 BARTTER SYNDROME, TYPE 3 BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA, INCLUDED Gene map locus 1p36 #607361 MECKEL SYNDROME, TYPE 3; MKS3 Gene map locus 8q21.13-q22.1 %607354 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 2; IS2 Gene map locus 17p11.2 %607346 SPINOCEREBELLAR ATAXIA 19; SCA19 Gene map locus 1p21-q21 #607341 FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT FOCAL CORTICAL DYSPLASIA OF TAYLOR, TYPE IIA, INCLUDED Gene map locus 9q34 %607339 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1 Gene map locus 16pter-p13, 3pter-p21 #607330 LATHOSTEROLOSIS Gene map locus 11q23.3 %607329 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 3 Gene map locus 2p25-p24 #607326 SMITH-MCCORT DYSPLASIA; SMC Gene map locus 18q12-q21.1 %607324 POLYDACTYLY, POSTAXIAL, TYPE A3 Gene map locus 19p13.2-p13.1 #607323 DUANE-RADIAL RAY SYNDROME; DRRS Gene map locus 20q13.13-q13.2 #607322 CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY Gene map locus 16q21 %607317 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4 Gene map locus 1p36 #607313 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS; HGPPS OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS, INCLUDED Gene map locus 11q23-q25 %607308 MAMMOGRAPHIC DENSITY %607304 CATARACT, NUCLEAR PROGRESSIVE Gene map locus 2p12 %607279 SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY TO, 1; SLEH1 Gene map locus 11q14 607278 OSTEOFIBROUS DYSPLASIA #607277 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 Gene map locus 14q22.1 #607276 RESTING HEART RATE Gene map locus 10q24-q26 #607271 CASPASE 8 DEFICIENCY Gene map locus 2q33 #607259 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7 Gene map locus 16q24.3 %607258 HYPERCALCIURIA, ABSORPTIVE, 1 Gene map locus 4q33-qter #607250 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY; SCAN1 Gene map locus 14q31-q32 %607248 GLIOMA, FAMILIAL, 1 Gene map locus 15q23-q26.3 %607239 DEAFNESS, AUTOSOMAL RECESSIVE 33; DFNB33 Gene map locus 9q34.3 #607236 HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION Gene map locus 20p13-p12.3 #607225 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP Gene map locus 2q33 %607221 EPILEPSY, PARTIAL, WITH PERICENTRAL SPIKES Gene map locus 4p15 607214 ANONYCHIA, TOTAL, WITH MICROCEPHALY #607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI EPILEPSY, INTRACTABLE CHILDHOOD, WITH GENERALIZED TONIC-CLONIC SEIZURES, INCLUDED; ICEGTC, INCLUDED Gene map locus 5q31.1-q33.1, 2q24 %607202 CELIAC DISEASE, SUSCEPTIBILITY TO, 5; CELIAC5 Gene map locus 15q11-q13 #607200 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 6 Gene map locus 15q15.3 607197 DEAFNESS, AUTOSOMAL RECESSIVE #607196 MICROCEPHALY, AMISH TYPE; MCPHA Gene map locus 17q25.3 #607174 MENINGIOMA, FAMILIAL Gene map locus 10q23.31, 22q12.3-qter, 22q12.2 607161 MULTIPLE CONGENITAL ANOMALIES SYNDROME WITH CLOVERLEAF SKULL #607155 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I Gene map locus 19q13.3 #607154 ALLERGIC RHINITIS Gene map locus 5q31 %607152 SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT; SPG19 Gene map locus 9q %607151 MOYAMOYA DISEASE 2; MYMY2 Gene map locus 17q25 #607143 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G Gene map locus 22q13.33 #607140 ANGIOID STREAKS #607136 SPINOCEREBELLAR ATAXIA 17; SCA17 Gene map locus 6q27 %607135 CREATININE CLEARANCE QUANTITATIVE TRAIT LOCUS Gene map locus 3p %607134 SPECIFIC LANGUAGE IMPAIRMENT 3; SLI3 Gene map locus 13q21 #607133 CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES Gene map locus 22q11.2-q12.2 607132 LARYNGEAL ATRESIA, ENCEPHALOCELE, AND LIMB DEFORMITIES %607131 MACROCEPHALY WITH MULTIPLE EPIPHYSEAL DYSPLASIA AND DISTINCTIVE FACIES Gene map locus 15q26.1 %607116 ALZHEIMER DISEASE 8 Gene map locus 20p #607115 CINCA SYNDROME; CINCA Gene map locus 1q44 %607107 NASOPHARYNGEAL CARCINOMA 1 Gene map locus 4p15.1-q12 #607101 DEAFNESS, AUTOSOMAL RECESSIVE 30; DFNB30 Gene map locus 10p11.1 #607095 ANAUXETIC DYSPLASIA Gene map locus 9p21-p12 #607091 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D Gene map locus 9p13 %607088 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 3; DSMA3 Gene map locus 11q13 %607087 AORTIC ANEURYSM, FAMILIAL THORACIC 2; AAT2 Gene map locus 5q13-q14 %607086 AORTIC ANEURYSM, FAMILIAL THORACIC 1; AAT1 ERDHEIM CYSTIC MEDIAL NECROSIS OF AORTA, INCLUDED Gene map locus 11q23.3-q24 %607085 MYASTHENIA GRAVIS WITH THYMUS HYPERPLASIA Gene map locus 6p21.3 #607084 DEAFNESS, AUTOSOMAL RECESSIVE 31; DFNB31 Gene map locus 9q32-q34 #607080 GONADAL DYSGENESIS, 46,XY, PARTIAL, WITH MINIFASCICULAR NEUROPATHY GONADAL DYSGENESIS, 46,XY, PURE, WITH MINIFASCICULAR NEUROPATHY, INCLUDED Gene map locus 12q13.1 #607078 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5; EDM5 Gene map locus 2p24-p23 #607060 PARKINSON DISEASE 8; PARK8 Gene map locus 12q12 %607053 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2 Gene map locus 8q23 607044 T-BOX 24 #607039 DEAFNESS, AUTOSOMAL RECESSIVE 22; DFNB22 Gene map locus 16p12.2 %607034 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A; CFEOM3A Gene map locus 12p11.2-q12 %607017 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 21; DFNA21 #607016 SCHEIE SYNDROME Gene map locus 4p16.3 #607015 HURLER-SCHEIE SYNDROME Gene map locus 4p16.3 #607014 HURLER SYNDROME Gene map locus 4p16.3 %607004 BRACHYDACTYLY, TYPE A1, B Gene map locus 5p13.3-p13.2 #606996 SENIOR-LOKEN SYNDROME 4; SLSN4 Gene map locus 1p36 %606995 SENIOR-LOKEN SYNDROME 3; SLSN3 Gene map locus 3q22 %606984 HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 2 %606972 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 2; EIG2 Gene map locus 14q23 %606970 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 1; EIG1 Gene map locus 8q24 #606966 NEPHRONOPHTHISIS 4; NPHP4 Gene map locus 1p36 %606963 PULMONARY DISEASE, CHRONIC OBSTRUCTIVE PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET, INCLUDED Gene map locus 14q32.1, 11q22-q23, 2q %606960 INSULINOMA TUMOR SUPPRESSOR GENE LOCUS Gene map locus 22q12.1-q12.2 #606952 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE, INCLUDED Gene map locus 11q14-q21 #606943 USHER SYNDROME, TYPE IG; USH1G Gene map locus 17q24-q25 %606937 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5; SCAR5 Gene map locus 15q24-q26 %606928 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 3; BMND3 Gene map locus 1p36 #606904 EPILEPSY, JUVENILE MYOCLONIC; JME Gene map locus 5q34-q35, 3q26-qter, 2q22-q23 %606896 DYSLEXIA, SUSCEPTIBILITY TO, 5; DYX5 Gene map locus 3p12-q13 606895 SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWED ZYGOMATIC ARCH 606894 DUODENOJEJUNAL ATRESIA WITH VOLVULUS, ABSENT DORSAL MESENTERY, AND ABSENT SUPERIOR MESENTERIC ARTERY 606893 VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS #606889 ALZHEIMER DISEASE 4 Gene map locus 1q31-q42 %606875 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 7; HSCR7 Gene map locus 19q12 %606874 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 6; HSCR6 Gene map locus 3p21 #606864 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA Gene map locus 11q23, 1q21, 1p36.1-p35 #606858 PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION Gene map locus 8p23 #606856 PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 Gene map locus 4q32.3 #606854 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL Gene map locus 16q13 %606852 PARKINSON DISEASE 10; PARK10 Gene map locus 1p 606851 CREE MENTAL RETARDATION SYNDROME #606843 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 Gene map locus 20q12-q13.2 %606842 CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS 606840 FACIOMANDIBULAR MYOCLONUS, NOCTURNAL 606835 DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL #606824 GLUCOSE/GALACTOSE MALABSORPTION; GGM Gene map locus 22q13.1 #606812 FUMARASE DEFICIENCY Gene map locus 1q42.1 #606799 STROKE, SUSCEPTIBILITY TO, 1 Gene map locus 5q12 #606798 BLEPHAROSPASM, BENIGN ESSENTIAL Gene map locus 4p16.1-p15.3 %606789 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 4; HBFQTL4 Gene map locus 8q %606788 ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1; ANON1 Gene map locus 13q14-q21, 11p13, 1p %606787 PERIPHERAL ARTERIAL OCCLUSIVE DISEASE 1 Gene map locus 1p31 #606785 CRIGLER-NAJJAR SYNDROME, TYPE II Gene map locus 2q37 #606777 GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER Gene map locus 1p35-p31.3 606773 HEMIFACIAL MYOHYPERPLASIA 606772 MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKIN ANOMALIES %606771 CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 14 Gene map locus Chr.14 %606770 CIRCULATING ADIPONECTIN QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 5 Gene map locus Chr.5 #606768 MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT Gene map locus 2p13.3-p13.1 %606766 AZOOSPERMIA, NONOBSTRUCTIVE Gene map locus 6p21.3 #606764 GASTROINTESTINAL STROMAL TUMOR; GIST Gene map locus 4q12, 4q12 %606763 CILIARY DYSKINESIA, PRIMARY, 2; CILD2 Gene map locus 19q13.3-qter #606762 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6 Gene map locus 10q23.3 606752 ACUTE HEMORRHAGIC LEUKOENCEPHALITIS %606744 SECKEL SYNDROME 2; SCKL2 Gene map locus 18p11.31-q11.2 606721 LIPODYSTROPHY WITH CONGENITAL CATARACTS AND NEURODEGENERATION #606719 MELANOMA-PANCREATIC CANCER SYNDROME Gene map locus 9p21 %606713 VAN DER WOUDE SYNDROME 2 Gene map locus 1p34 %606712 SPECIFIC LANGUAGE IMPAIRMENT 2; SLI2 Gene map locus 19q %606711 SPECIFIC LANGUAGE IMPAIRMENT 1; SLI1 Gene map locus 16q %606708 SPLIT-HAND/FOOT MALFORMATION 5; SHFM5 Gene map locus 2q31 #606705 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 36; DFNA36 Gene map locus 9q13-q21 %606703 DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA #606693 KUFOR-RAKEB SYNDROME; KRS Gene map locus 1p36 #606690 LYMPHANGIOLEIOMYOMATOSIS; LAM Gene map locus 16p13.3, 9q34 %606689 GLAUCOMA 1, OPEN ANGLE, B; GLC1B Gene map locus 2cen-q13 #606688 SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES Gene map locus 20pter-p12 #606685 CARDIOMYOPATHY, DILATED, 1L; CMD1L Gene map locus 5q33 %606675 INFLAMMATORY BOWEL DISEASE 4; IBD4 Gene map locus 14q11-q12 %606674 INFLAMMATORY BOWEL DISEASE 6; IBD6 Gene map locus 19p13 %606668 INFLAMMATORY BOWEL DISEASE 8; IBD8 Gene map locus 16p #606664 GLYCINE N-METHYLTRANSFERASE DEFICIENCY Gene map locus 6p12 %606662 WAARDENBURG SYNDROME, TYPE IIC Gene map locus 8p23 %606661 MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2 Gene map locus 3p25.2-p25.1 %606660 MELANOMA, UVEAL, SUSCEPTIBILITY TO, 1 Gene map locus 3q24-q26 #606658 SPINOCEREBELLAR ATAXIA 15; SCA15 SPINOCEREBELLAR ATAXIA 16, FORMERLY; SCA16, FORMERLY Gene map locus 3p26-p25, 3p26.1-p25.3 #606657 GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO Gene map locus 10p15-p14, 3q28-q29 %606656 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 2 %606643 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 13 Gene map locus 13q14 %606642 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 7 Gene map locus 7q32.3 #606641 BODY MASS INDEX Gene map locus 20pter-p11.2, 16p13, 13q14, 11q24, 7q32.3, 6q23-q25 %606640 AMYOTROPHIC LATERAL SCLEROSIS 3; ALS3 Gene map locus 18q21 606632 ODOR, MALE, WOMEN'S CHOICE OF %606631 CAMURATI-ENGELMANN DISEASE, TYPE II #606617 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM WITH CONGENITAL HEART DEFECTS Gene map locus 18q12.1-q12.2 %606616 DYSLEXIA, SUSCEPTIBILITY TO, 6; DYX6 Gene map locus 18p11.2 %606613 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1; HDLCQ1 Gene map locus 9p #606612 MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C Gene map locus 19q13.3 #606606 SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA Gene map locus 1q25 #606595 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F Gene map locus 7q11.23 #606593 LIG4 SYNDROME Gene map locus 13q22-q34 606581 POLYSUBSTANCE ABUSE, SUSCEPTIBILITY TO #606579 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1 Gene map locus 17p13 #606574 OCULOCUTANEOUS ALBINISM, TYPE IV; OCA4 Gene map locus 5p13.3 %606554 EPISODIC ATAXIA, TYPE 3; EA3 Gene map locus 1q42 %606552 EPISODIC ATAXIA, TYPE 4; EA4 %606545 ICHTHYOSIS, LAMELLAR, 5; LI5 Gene map locus 17p13.2-p13.1 606529 CRANIOSYNOSTOSIS SYNDROME, AUTOSOMAL RECESSIVE #606528 HOMOZYGOUS 11p15-p14 DELETION SYNDROME 606527 MEGARBANE SYNDROME 606519 PHACE ASSOCIATION %606483 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A Gene map locus 10q24.1-q25.1 #606482 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA, INCLUDED Gene map locus 19p13.2 %606460 LONGEVITY 1 Gene map locus 4q25 %606451 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 30; DFNA30 Gene map locus 15q25-q26 606445 PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS #606438 HUNTINGTON DISEASE-LIKE 2; HDL2 Gene map locus 16q24.3 #606437 MYOKYMIA WITH NEONATAL EPILEPSY MYOKYMIA 2, INCLUDED Gene map locus 20q13.3 %606415 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT, WITH THYROID DISEASE Gene map locus 2p #606408 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY Gene map locus 6p21.3 #606407 HYPOTONIA-CYSTINURIA SYNDROME HOMOZYGOUS 2p21 DELETION SYNDROME, INCLUDED Gene map locus 2p16.3 #606394 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VI; MODY6 #606392 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV; MODY4 #606391 MATURITY-ONSET DIABETES OF THE YOUNG; MODY #606369 EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE Gene map locus 4q21.3 #606367 INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF #606353 PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ Gene map locus 2q33 606349 GAMBLING, PATHOLOGIC %606348 INFLAMMATORY BOWEL DISEASE 5; IBD5 Gene map locus 5q31 #606346 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 22; DFNA22 DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY, INCLUDED Gene map locus 6q13 %606325 HETEROTAXY, VISCERAL, 3, AUTOSOMAL Gene map locus 6q21 #606324 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 Gene map locus 1p36 %606282 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 24; DFNA24 Gene map locus 4q35-qter %606263 PAGET DISEASE OF BONE 4; PDB4 Gene map locus 5q31 %606258 STATURE QUANTITATIVE TRAIT LOCUS 4 Gene map locus 13q32-q33 %606257 STATURE QUANTITATIVE TRAIT LOCUS 3 Gene map locus 12p11.2-q14 %606256 STATURE QUANTITATIVE TRAIT LOCUS 2 Gene map locus 7q31.3 %606255 STATURE AS A QUANTITATIVE TRAIT STATURE QUANTITATIVE TRAIT LOCUS 1, INCLUDED; STQTL1, INCLUDED Gene map locus 6q24-q25, 2q21 #606243 ALVEOLAR SOFT-PART SARCOMA; ASPS Gene map locus 17q25 606242 MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES, AND FACIAL DYSMORPHISM %606240 THYROID CARCINOMA, NONMEDULLARY 1 Gene map locus 2q21 #606232 CHROMOSOME 22q13.3 DELETION SYNDROME Gene map locus 22q13.3 606220 MENTAL RETARDATION, SHORT STATURE, FACIAL ANOMALIES, AND JOINT DISLOCATIONS #606217 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2; AVSD2 ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME, INCLUDED Gene map locus 3p25.3 %606215 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 1; AVSD1 Gene map locus 1p31-p21 606190 MENINGIOMA, RADIATION-INDUCED Gene map locus 1p11 %606187 ALZHEIMER DISEASE 7 Gene map locus 10p13 606183 LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY 606179 ANEURYSMAL BONE CYSTS Gene map locus 16q22 606177 PARS PLANITIS #606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED Gene map locus 11p15.1, 11p15.1, 7p15-p13 606175 CARNITINE ACETYLTRANSFERASE DEFICIENCY 606174 BACULUM, CONGENITAL ABSENCE OF %606170 GENITOPATELLAR SYNDROME %606164 DIAMOND-BLACKFAN ANEMIA WITH MICROTIA AND CLEFT PALATE %606163 CARDIOMYOPATHY, FATAL FETAL, DUE TO MYOCARDIAL CALCIFICATION #606159 BASAL GANGLIA DISEASE, ADULT-ONSET Gene map locus 19q13.3-q13.4 606156 SENER SYNDROME 606155 MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES %606129 DIAMOND-BLACKFAN ANEMIA 2 Gene map locus 8p23.3-p22 %606082 GOITER, MULTINODULAR 3; MNG3 Gene map locus 3q26.1-q26.3 #606072 RIPPLING MUSCLE DISEASE; RMD RIPPLING MUSCLE DISEASE 2, INCLUDED; RMD2, INCLUDED Gene map locus 1q41, 3p25 %606071 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC Gene map locus 12q23-q24 %606070 MYOPATHY, DISTAL 2; MPD2 Gene map locus 5q #606069 HEMOCHROMATOSIS, TYPE 4; HFE4 Gene map locus 2q32 %606068 RETINITIS PIGMENTOSA 28; RP28 Gene map locus 2p15-p11 #606056 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb; CDG2B Gene map locus 2p13-p12 #606054 PROPIONIC ACIDEMIA Gene map locus 13q32, 3q21-q22 %606053 AUTISM, SUSCEPTIBILITY TO, 5; AUTS5 Gene map locus 2q %606049 ACROMEGALOID FEATURES, OVERGROWTH, CLEFT PALATE, AND HERNIA Gene map locus Chr.11 %606035 FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1; FIQTL1 Gene map locus 6q22-q24 %606012 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 18; DFNA18 Gene map locus 3q22 #606003 TRANSALDOLASE DEFICIENCY Gene map locus 11p15.5-p15.4 #606002 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1 Gene map locus 9q34 #605990 URIC ACID NEPHROLITHIASIS, SUSCEPTIBILITY TO Gene map locus 10q21.2 %605982 FAMILIAL WILMS TUMOR 2 %605967 ACROPECTORAL SYNDROME Gene map locus 7q36 %605946 METAPHYSEAL DYSPLASIA, BRAUN-TINSCHERT TYPE 605945 CRUMPLED HELICES AND SMALL MOUTH 605944 LIVER FIBROCYSTIC DISEASE AND POLYDACTYLY 605935 ARTHROPATHY, EROSIVE %605934 HOLOPROSENCEPHALY 6 Gene map locus 2q37.1-q37.3 %605913 BLEEDING DISORDER, EAST TEXAS TYPE Gene map locus 1q23 #605911 3-@HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2, MITOCHONDRIAL, DEFICIENCY OF Gene map locus 1p13-p12 #605909 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6 PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO, INCLUDED Gene map locus 1p36 #605899 GLYCINE ENCEPHALOPATHY; GCE HYPERGLYCINEMIA, TRANSIENT NEONATAL, INCLUDED; TNH, INCLUDED Gene map locus 16q24, 9p22, 3p21.2-p21.1 %605856 SHORT STATURE, MENTAL RETARDATION, CALLOSAL AGENESIS, HEMINASAL HYPOPLASIA, MICROPHTHALMIA, AND ATYPICAL CLEFTING #605850 DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD Gene map locus 5q12.2-q12.3 %605845 DERMATITIS, ATOPIC, 6; ATOD6 Gene map locus 5q31-q33 %605844 DERMATITIS, ATOPIC, 5; ATOD5 Gene map locus 13q12-q14 %605841 NARCOLEPSY 2 Gene map locus 4p13-q21 #605839 LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY Gene map locus 1q42.1 605838 BABY RATTLE PELVIS DYSPLASIA %605833 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 2; BMND2 Gene map locus 1q21-q23 %605827 BASALOID FOLLICULAR HAMARTOMA SYNDROME, GENERALIZED, AUTOSOMAL DOMINANT 605822 SPONDYLOOCULAR SYNDROME, AUTOSOMAL RECESSIVE #605820 NONAKA MYOPATHY; NM Gene map locus 9p12-p11 %605818 DEAFNESS, AUTOSOMAL RECESSIVE 27; DFNB27 Gene map locus 2q23-q31 #605814 CITRULLINEMIA, TYPE II, NEONATAL-ONSET Gene map locus 7q21.3 %605809 MYASTHENIA, FAMILIAL INFANTILE, 1 Gene map locus 17p13 605808 BIRDSHOT CHORIORETINOPATHY #605805 DERMATITIS, ATOPIC, 4; ATOD4 Gene map locus 17q25.3 %605804 DERMATITIS, ATOPIC, 3; ATOD3 Gene map locus 20p #605803 DERMATITIS, ATOPIC, 2; ATOD2 Gene map locus 1q21 605756 GONADAL DYSGENESIS, HYPERGONADOTROPIC, XX TYPE, SHORT STATURE, AND RECURRENT METABOLIC ACIDOSIS %605751 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2 Gene map locus 16p12-q12 %605750 EXUDATIVE VITREORETINOPATHY 3; EVR3 Gene map locus 11p13-p12 %605749 CATARACT, AUTOSOMAL RECESSIVE, EARLY-ONSET, PULVERULENT Gene map locus 9q13-q22 %605746 ANISOMASTIA Gene map locus 16q13-q21 %605738 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 2; MCOPCB2 Gene map locus 15q12-q15 %605735 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE DEFICIENCY %605728 CATARACT, CENTRAL SACCULAR, WITH SUTURAL OPACITIES Gene map locus 15q21-q22 %605727 OTOSCLEROSIS 2; OTSC2 Gene map locus 7q34-q36 %605726 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2; DSMA2 Gene map locus 9p21.1-p12 #605724 FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1 Gene map locus 13q12.3 #605714 AMYLOIDOSIS, CEREBROARTERIAL, HEREDITARY, IOWA TYPE OCCIPITAL CALCIFICATIONS, FAMILIAL, WITH HEMORRHAGIC STROKES, LEUKOENCEPHALOPATHY, ARTERIAL DYSPLASIA, AND DEMENTIA, INCLUDED Gene map locus 21q21 %605711 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME Gene map locus 2p14-p13 605709 GLUTAMATE TRANSPORTER EAAC1-ASSOCIATED PROTEIN 605685 CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS #605676 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA Gene map locus 6p24 605672 CEREBELLAR ATAXIA AND HYPERGONADOTROPIC HYPOGONADISM #605670 LATE-ONSET RETINAL DEGENERATION; LORD Gene map locus 11q23.3 %605642 THYROID CARCINOMA, PAPILLARY, WITH PAPILLARY RENAL NEOPLASIA Gene map locus 1q21 #605637 INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT; IBM3 Gene map locus 17p13.1 %605635 HYPERALDOSTERONISM, FAMILIAL, TYPE II Gene map locus 7p22 %605627 CEREBROOCULONASAL SYNDROME 605618 TETRALOGY OF FALLOT SYNDROME, AUTOSOMAL RECESSIVE %605606 PSORIASIS SUSCEPTIBILITY 7 Gene map locus 1p %605598 DIABETES MELLITUS, INSULIN-DEPENDENT, 18; IDDM18 Gene map locus 5q31.1-q33.1 #605594 DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1 Gene map locus 4q21.3 %605589 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2; CMT2B2 Gene map locus 19q13.3 #605588 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 Gene map locus 1q21.2 %605583 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 25; DFNA25 Gene map locus 12q21-q24 %605582 CARDIOMYOPATHY, DILATED, 1K; CMD1K Gene map locus 6q12-q16 %605572 ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 2 Gene map locus 17p12 %605552 ABDOMINAL OBESITY-METABOLIC SYNDROME ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 1, INCLUDED Gene map locus 4q22-q24, 3q27 %605549 CONE-ROD DYSTROPHY 8; CORD8 Gene map locus 1q12-q24 %605544 FIBROMATOSIS, GINGIVAL, 2; GINGF2 Gene map locus 5q13-q22 #605543 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY; PARK4 Gene map locus 4q21 %605526 ALZHEIMER DISEASE 6 PLASMA BETA-AMYLOID-42 LEVEL, QUANTITATIVE TRAIT LOCUS, INCLUDED Gene map locus 10q24 %605480 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 3; SLEB3 Gene map locus 4p16-p15.2 #605479 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2 #605472 USHER SYNDROME, TYPE IIC; USH2C Gene map locus 5q14 605463 RADIATION SENSITIVITY/CHROMOSOME INSTABILITY SYNDROME, AUTOSOMAL DOMINANT Gene map locus 14q11.2 #605462 BASAL CELL CARCINOMA, MULTIPLE BASAL CELL CARCINOMA CAUSED BY SOMATIC MUTATION, INCLUDED Gene map locus 9q22.3, 1p32 #605432 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA Gene map locus 7p15-p14.2 %605429 DEAFNESS, NONSYNDROMIC, MODIFIER 1; DFNM1 Gene map locus 1q24 %605428 DEAFNESS, AUTOSOMAL RECESSIVE 26; DFNB26 Gene map locus 4q31 %605419 SCHIZOPHRENIA 10; SCZD10 Gene map locus 15q15 #605407 SEGAWA SYNDROME, AUTOSOMAL RECESSIVE 605400 FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS AND MENTAL RETARDATION %605389 HYPOTRICHOSIS SIMPLEX Gene map locus 18p11.3, 18p11.32-p11.23 %605388 CEREBRAL PALSY, ATAXIC, AUTOSOMAL RECESSIVE Gene map locus 9p12-q12 #605387 CATARACT, POSTERIOR POLAR, 3; CTPP3 Gene map locus 20q11.21 #605376 HETEROTAXY, VISCERAL, 2, AUTOSOMAL Gene map locus 2q21.1 #605375 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3 Gene map locus 1q21 #605373 PARAGANGLIOMAS 3; PGL3 Gene map locus 1q21 %605365 BREAST CANCER 3; BRCA3 Gene map locus 13q21 %605364 PSORIASIS SUSCEPTIBILITY 6 Gene map locus 19p13 #605362 CARDIOMYOPATHY, DILATED, 1J; CMD1J Gene map locus 6q23 #605361 SPINOCEREBELLAR ATAXIA 14; SCA14 Gene map locus 19q13.4 #605355 NEMALINE MYOPATHY 5; NEM5 Gene map locus 19q13.4 605321 FRONTOOCULAR SYNDROME #605316 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 10; DFNB10 Gene map locus 21q22.3 605311 ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS #605309 MACROCEPHALY/AUTISM SYNDROME %605293 OPTIC ATROPHY 4; OPA4 Gene map locus 18q12.2-q12.3 #605289 SPLIT-HAND/FOOT MALFORMATION 4; SHFM4 Gene map locus 3q27 605288 PRIMORDIAL GERM CELL TUMOR SUSCEPTIBILITY LOCUS 1 %605285 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE Gene map locus 10q23.2 605282 TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME #605280 SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13 Gene map locus 2q33.1 %605275 NOONAN SYNDROME 2 605274 MESOMELIC DYSPLASIA, SAVARIRAYAN TYPE #605259 SPINOCEREBELLAR ATAXIA 13; SCA13 Gene map locus 19q13.3-q13.4 #605258 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 Gene map locus 12p13 #605253 NEUROPATHY, CONGENITAL HYPOMYELINATING Gene map locus 1q22, 10q21.1-q22.1 #605249 SEBASTIAN SYNDROME; SBS Gene map locus 22q11.2 %605244 CARNEY COMPLEX, TYPE II; CNC2 Gene map locus 2p16 %605233 DIANZANI AUTOIMMUNE LYMPHOPROLIFERATIVE DISEASE %605229 SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE; SPG14 Gene map locus 3q27-q28 %605225 INFLAMMATORY BOWEL DISEASE 7; IBD7 Gene map locus 1p36 #605218 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2; SLEB2 Gene map locus 2q37.3 605203 MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE %605201 HIGH DENSITY LIPOPROTEIN DEFICIENCY 3 Gene map locus 11q23.3 #605192 DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23 Gene map locus 14q23 #605156 MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Gene map locus 16q13 605130 GROWTH DEFICIENCY AND MENTAL RETARDATION WITH FACIAL DYSMORPHISM #605115 HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY Gene map locus 4q31.1 605105 EARLY RESPONSE TO NEURAL INDUCTION GENE %605075 RENAL CELL CARCINOMA, PAPILLARY, 3 Gene map locus 17q21.32 #605074 RENAL CELL CARCINOMA, PAPILLARY Gene map locus 1q21, 7q31, Xp11.22 605067 TRICUSPID ATRESIA %605055 ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID AND PRION PATHOLOGY #605041 BROOKE-SPIEGLER SYNDROME; BSS Gene map locus 16q12-q13, 16q12-q13 605040 CLAVICULAR HYPOPLASIA, ZYGOMATIC ARCH HYPOPLASIA, AND MICROGNATHIA #605039 C-LIKE SYNDROME Gene map locus 3q13.13 605037 KINESIN FAMILY MEMBER 17; KIF17 605028 LOW DENSITY LIPOPROTEIN CHOLESTEROL, MILD ELEVATION OF #605027 LYMPHOMA, NON-HODGKIN, FAMILIAL Gene map locus 10q22, 2q33-q34 605026 DIABETES MELLITUS, CONGENITAL AUTOIMMUNE %605021 MYOCLONIC EPILEPSY, INFANTILE Gene map locus 16p13 %605019 HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2 Gene map locus 3p22-p21.1 %605013 MICROHYDRANENCEPHALY; MHAC Gene map locus 16p13.3-p12.1 #604968 PROTOCADHERIN-GAMMA GENE CLUSTER; PCDHG@ Gene map locus 5q31 #604967 PROTOCADHERIN-BETA GENE CLUSTER; PCDHB@ Gene map locus 5q31 #604966 PROTOCADHERIN-ALPHA GENE CLUSTER; PCDHA@ Gene map locus 5q31 #604931 CORTISONE REDUCTASE DEFICIENCY Gene map locus 1q32-q41, 1p36 #604929 EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE; EDMD3 Gene map locus 1q21.2 #604928 WOLFRAM SYNDROME 2; WFS2 Gene map locus 4q22-q24 604922 CORTICAL DEFECTS, WORMIAN BONES, AND DENTINOGENESIS IMPERFECTA 604919 BECKER NEVUS SYNDROME 604916 HYDRONEPHROSIS, CONGENITAL, WITH CLEFT PALATE, CHARACTERISTIC FACIES, HYPOTONIA, AND MENTAL RETARDATION #604906 SCHIZOPHRENIA 9; SCZD9 Gene map locus 1q42.1, 1q23.3 #604901 NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS; NAIC Gene map locus 16q22 604893 ANTISENSE IGF2R #604864 OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA 604856 LANGERHANS CELL HISTIOCYTOSIS 604855 HYALURONAN METABOLISM, DEFECT IN #604841 STICKLER SYNDROME, TYPE II; STL2 Gene map locus 1p21 604830 MANDIBULOFACIAL DYSOSTOSIS SYNDROME, BAURU TYPE %604827 MYOCLONIC EPILEPSY, JUVENILE, 2; EJM2 Gene map locus 15q14 %604809 PANBRONCHIOLITIS, DIFFUSE Gene map locus 6p21.3 %604805 SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT; SPG12 Gene map locus 19q13 #604804 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 3; MCPH3 Gene map locus 9q33.3 %604802 HUNTINGTON DISEASE-LIKE 3; HDL3 Gene map locus 4p15.3 %604801 MUSCULAR DYSTROPHY, CONGENITAL, 1B Gene map locus 1q42 %604781 ICHTHYOSIS, NONLAMELLAR AND NONERYTHRODERMIC, CONGENITAL, AUTOSOMAL RECESSIVE; NNCI Gene map locus 19p13.2-p13.1 #604777 ICHTHYOSIS, LAMELLAR, 3; LI3 Gene map locus 19p13.12 #604772 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1; CPVT1 Gene map locus 1q42.1-q43 604771 POLYCYSTIC BONE DISEASE #604765 CARDIOMYOPATHY, DILATED, 1I; CMD1I Gene map locus 2q35 #604757 CRANIOSYNOSTOSIS, TYPE 2; CRS2 Gene map locus 5q34-q35 #604717 DEAFNESS, AUTOSOMAL DOMINANT 20; DFNA20 Gene map locus 17q25.3 #604715 ORTHOSTATIC INTOLERANCE Gene map locus 16q12.2 604690 GROWTH AND DEVELOPMENTAL RETARDATION, OCULAR PTOSIS, CARDIAC DEFECT, AND ANAL ATRESIA #604625 TOOTH AGENESIS, SELECTIVE, 3; STHAG3 Gene map locus 14q12-q13 604622 AORTIC ANEURYSM, GIANT CONGENITAL %604595 CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1 Gene map locus 13q 604588 NEVER IN MITOSIS GENE A-RELATED KINASE 1; NEK1 #604571 BARE LYMPHOCYTE SYNDROME, TYPE I Gene map locus 6p21.3, 6p21.3, 6p21.3 #604563 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA, INCLUDED Gene map locus 11p15 %604559 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB; PFHB1B Gene map locus 19q13.2-q13.3 %604547 VAN DER WOUDE SYNDROME MODIFIER Gene map locus 17p11.2-p11.2 #604537 LEBER CONGENITAL AMAUROSIS, TYPE V; LCA5 Gene map locus 6q14.1 #604536 ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME Gene map locus 1q32 %604519 INFLAMMATORY BOWEL DISEASE 3; IBD3 Gene map locus 6p %604499 HYPERLIPIDEMIA, COMBINED, 2 Gene map locus 11p #604498 AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT Gene map locus 1p34 %604484 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE Gene map locus 3q13.1 604474 HUMAN HERPESVIRUS TYPE 6, INTEGRATED 604462 SEMAPHORIN 4C; SEMA4C %604454 WELANDER DISTAL MYOPATHY; WDM Gene map locus 2p13 604451 BASAL CELL CARCINOMA, INFUNDIBULOCYSTIC %604442 NONPAPILLARY RENAL CARCINOMA 1 Gene map locus 3p12 #604432 SPINOCEREBELLAR ATAXIA 11; SCA11 Gene map locus 15q15.2 %604431 POLYNEUROPATHY, LETHAL NEONATAL, AXONAL SENSORIMOTOR, AUTOSOMAL RECESSIVE #604416 PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE Gene map locus 15q24-q25.1 #604403 FEBRILE CONVULSIONS, FAMILIAL, 3; FEB3 Gene map locus 2q24 %604401 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 6 Gene map locus 10p14-p12 #604400 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5 Gene map locus 3p21.3, 3p25 #604393 LEBER CONGENITAL AMAUROSIS, TYPE IV; LCA4 Gene map locus 17p13.1 #604391 ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD Gene map locus 11q21 #604387 NEPHRONOPHTHISIS 3; NPHP3 Gene map locus 3q22 604382 LISSENCEPHALY, FAMILIAL, WITH CLEFT PALATE AND CEREBELLAR HYPOPLASIA 604381 PATENT DUCTUS ARTERIOSUS AND BICUSPID AORTIC VALVE WITH HAND ANOMALIES 604380 ULNAR RAY DYSGENESIS WITH POSTAXIAL POLYDACTYLY AND RENAL CYSTIC DYSPLASIA #604379 HYPOTRICHOSIS, AUTOSOMAL RECESSIVE; AH Gene map locus 3q27-q28 #604377 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY Gene map locus 22q13 #604370 OVARIAN CANCER, EPITHELIAL ADENOCARCINOMA, OVARIAN, INCLUDED Gene map locus 14q32.3, 11q25, 6q25.2-q27, 3q26.3 #604369 SIALURIA, FINNISH TYPE Gene map locus 6q14-q15 #604367 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 Gene map locus 7q11.23-q21.11, 3p25 %604364 EPILEPSY, PARTIAL, WITH VARIABLE FOCI Gene map locus 22q11-q12 604363 MYOCLONIC EPILEPSY, CONGENITAL DEAFNESS, MACULAR DYSTROPHY, AND PSYCHIATRIC DISORDERS #604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11 Gene map locus 15q21.1 %604356 DUANE RETRACTION SYNDROME 2 Gene map locus 2q31 #604352 FEBRILE CONVULSIONS, FAMILIAL, 4; FEB4 Gene map locus 5q14 #604348 ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL Gene map locus 2q37.3 604335 REFLEX SYMPATHETIC DYSTROPHY %604329 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 2 Gene map locus 15q #604326 SPINOCEREBELLAR ATAXIA 12; SCA12 Gene map locus 5q31-q33 604324 ACNE, ADULT %604321 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 4; MCPH4 Gene map locus 15q15-q21 #604320 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1 Gene map locus 11q13.2-q13.4 %604317 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2; MCPH2 Gene map locus 19q13.1-q13.2 %604316 PSORIASIS SUSCEPTIBILITY 5; PSORS5 Gene map locus 3q21 604315 ANEMIA, CONGENITAL HYPOPLASTIC, WITH MULTIPLE CONGENITAL ANOMALIES/MENTAL RETARDATION SYNDROME 604314 BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION #604308 MASS SYNDROME Gene map locus 15q21.1 #604307 CATARACT, COPPOCK-LIKE; CCL Gene map locus 2q33-q35, 22q11.2-q12.2 #604302 RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE Gene map locus 22q11.2 #604292 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3 Gene map locus 3q27 604291 ASCARIS LUMBRICOIDES INFECTION, SUSCEPTIBILITY TO #604290 ACERULOPLASMINEMIA HYPOCERULOPLASMINEMIA, INCLUDED Gene map locus 3q23-q24 %604288 CARDIOMYOPATHY, DILATED, 1H; CMD1H Gene map locus 2q14-q22 604287 CARNEY TRIAD #604286 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E Gene map locus 4q12 #604278 RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION Gene map locus 4q21 #604273 ATPAF2 DEFICIENCY Gene map locus 17p11.2 #604271 SHORT STATURE, IDIOPATHIC, AUTOSOMAL Gene map locus 17q22-q24, 3q26.3, Ypter-p11.2 604257 CAMERA-MARUGO-COHEN SYNDROME %604254 DYSLEXIA, SUSCEPTIBILITY TO, 3; DYX3 Gene map locus 2p16-p15 #604250 HEMOCHROMATOSIS, TYPE 3; HFE3 Gene map locus 7q22 #604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; GEFS+ GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, INCLUDED Gene map locus 19q13.1, 5q31.1-q33.1, 2q24, 2q23-q24.3 #604232 LEBER CONGENITAL AMAUROSIS, TYPE III Gene map locus 14q23.3 #604229 PETERS ANOMALY Gene map locus 2p22-p21 #604219 CATARACT, AUTOSOMAL DOMINANT Gene map locus 12q13, 3q21-q25 #604218 ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB Gene map locus 3q26 %604213 CHUDLEY-MCCULLOUGH SYNDROME 604211 HIRSCHSPRUNG DISEASE WITH HEART DEFECTS, LARYNGEAL ANOMALIES, AND PREAXIAL POLYDACTYLY %604201 HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene map locus 6q22-q23 #604187 SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10 Gene map locus 12q13 %604185 FACIAL PARESIS, HEREDITARY, CONGENITAL; HCFP2 Gene map locus 10q21.3-q22.1 604183 CHOLESTEATOMA, CONGENITAL %604173 POIKILODERMA WITH NEUTROPENIA; PN 604172 CARONTE #604169 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1; LVNC1 Gene map locus 18q12.1-q12.2 #604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY Gene map locus 18q23 604154 ALZHEIMER DISEASE WITHOUT NEUROFIBRILLARY TANGLES #604145 CARDIOMYOPATHY, DILATED, 1G; CMD1G Gene map locus 2q31 #604131 THALASSEMIAS #604129 EPIDERMOLYSIS BULLOSA PRURIGINOSA Gene map locus 3p21.3 604121 CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY #604117 VOHWINKEL SYNDROME, VARIANT FORM Gene map locus 1q21 #604116 CONE-ROD DYSTROPHY 3; CORD3 Gene map locus 1p21-p13 604093 KERATOSIS PILARIS #604091 HYPOALPHALIPOPROTEINEMIA, PRIMARY Gene map locus 11q23, 9q22-q31 %604060 DEAFNESS, AUTOSOMAL RECESSIVE 20; DFNB20 Gene map locus 11q25-qter #604004 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS; MLC Gene map locus 22q13.33 #603965 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2; FSGS2 Gene map locus 11q21-q22 %603964 DEAFNESS, AUTOSOMAL DOMINANT 16; DFNA16 Gene map locus 2q23-q24.3 #603956 CERVICAL CANCER Gene map locus 4p16.3 %603935 PSORIASIS SUSCEPTIBILITY 4; PSORS4 Gene map locus 1q21 #603933 DIABETIC NEPHROPATHY, SUSCEPTIBILITY TO Gene map locus 17q23 #603932 INTERVERTEBRAL DISC DISEASE; IDD LUMBAR DISC DISEASE, INCLUDED; LDD, INCLUDED Gene map locus 20q11.2-q13.1, 15q22, 9q21.3-q22, 1p21, 6q27, 1p33-p32.2, 20q13.3 %603918 HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 1 Gene map locus 17q #603909 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A Gene map locus 2q33-q34 #603903 SICKLE CELL ANEMIA #603902 BETA THALASSEMIA, DOMINANT INCLUSION BODY TYPE Gene map locus 11p15.5 #603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM VANISHING WHITE MATTER LEUKODYSTROPHY WITH OVARIAN FAILURE, INCLUDED Gene map locus 14q24, Chr.12, 1p34.1, 3q27, 2p23.3 #603860 MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2 Gene map locus 16p12.3 %603855 CYSTIC FIBROSIS MODIFIER 1; CFM1 Gene map locus 19q13.2-q13.4 #603830 LONG QT SYNDROME 3; LQT3 LONG QT SYNDROME 2/3, INCLUDED; LQT2/3, INCLUDED Gene map locus 3p21 #603829 VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL; VF Gene map locus 3p21 603828 BRITTLE BONE DISORDER #603813 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH Gene map locus 1p36-p35 603807 PETERS ANOMALY WITH CATARACT Gene map locus 11p13 603806 URINARY TRACT INFECTIONS, RECURRENT, SUSCEPTIBILITY TO %603802 MICROCEPHALY WITH SIMPLIFIED GYRAL PATTERN 603794 HYDROA VACCINIFORME, FAMILIAL %603786 STARGARDT DISEASE 4; STGD4 Gene map locus 4p %603783 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 1 #603776 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 Gene map locus 1p34.1-p32 603744 PAPILLARY THYROID MICROCARCINOMA 603740 ACRODYSPLASIA WITH OSSIFICATION ABNORMALITIES, SHORT STATURE, AND FIBULAR HYPOPLASIA 603737 OVARIAN GERM CELL CANCER 603736 YOUNG-SIMPSON SYNDROME #603720 DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16 Gene map locus 15q15 %603694 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 3 Gene map locus 20q12-q13.1 #603689 HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF Gene map locus 2q31 #603688 PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY Gene map locus 1p36.1-p35 %603678 DEAFNESS, AUTOSOMAL RECESSIVE 14; DFNB14 Gene map locus 7q31 %603671 ACROMELIC FRONTONASAL DYSOSTOSIS 603670 BLUE NEVI, FAMILIAL MULTIPLE 603669 ECCRINE SYRINGOFIBROADENOMATOSIS WITH EYELID ABNORMALITIES 603664 MENTAL HEALTH WELLNESS 2 Gene map locus 4q %603663 MENTAL HEALTH WELLNESS 1 Gene map locus 4p 603656 EXOSTOSIS, DUPUYTREN SUBUNGUAL %603649 CONE-ROD DYSTROPHY 7; CORD7 Gene map locus 6q12-q13 603643 SITUS INVERSUS TOTALIS WITH CYSTIC DYSPLASIA OF KIDNEYS AND PANCREAS 603642 ATRIAL SEPTAL DEFECT, SECUNDUM, WITH VARIOUS CARDIAC AND NONCARDIAC DEFECTS 603641 NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARING LOSS, AND ENAMEL HYPOPLASIA #603629 DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21 Gene map locus 11q22-q24 #603622 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 17; DFNA17 COCHLEOSACCULAR DEGENERATION, INCLUDED Gene map locus 22q11.2 603600 OSTEOMA OF CRANIAL VAULT, FAMILIAL #603596 POLYDACTYLY 603595 CRANIOSYNOSTOSIS WITH ECTOPIA LENTIS 603592 XANTHINURIA, TYPE II 603589 FACIAL DYSMORPHISM, SELECTIVE TOOTH AGENESIS, AND CHOROID CALCIFICATION 603588 PAROTITIS, JUVENILE RECURRENT 603587 FOLLICULAR ATROPHODERMA, PERIORAL PIGMENTED, WITH MILIA AND EPIDERMOID CYSTS #603585 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; CDG2F Gene map locus 6q15 603572 MICROCEPHALY, FACIAL ABNORMALITIES, MICROMELIA, AND MENTAL RETARDATION 603569 TRACHEOBRONCHIAL STENOSIS, CONGENITAL #603563 SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8 Gene map locus 8q24.13 #603554 OMENN SYNDROME Gene map locus 11p13, 11p13, 10p #603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 Gene map locus 10q22 #603552 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 Gene map locus 6q24 %603546 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS #603543 LIMB-MAMMARY SYNDROME; LMS Gene map locus 3q27 603530 LIGHT FIXATION SEIZURE SYNDROME 603529 DYSERYTHROPOIESIS, CONGENITAL, WITH INTERNUCLEAR CHROMATIN BRIDGES AND ULTRASTRUCTURALLY NORMAL ERYTHROBLAST HETEROCHROMATIN #603528 DEHYDRATED HEREDITARY STOMATOCYTOSIS, PSEUDOHYPERKALEMIA, AND PERINATAL EDEMA Gene map locus 16q23-q24 603523 CHYLOTHORAX, CONGENITAL #603516 SPINOCEREBELLAR ATAXIA 10; SCA10 Gene map locus 22q13 #603513 CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE Gene map locus 2q31 %603511 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D; LGMD1D Gene map locus 7q 603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE #603471 CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 Gene map locus 7q21.3 603463 HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARING LOSS 603457 ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA 603446 OROACRAL SYNDROME, VERLOES-KOULISCHER TYPE 603439 EXPANSILE BONE LESIONS 603438 RADIOULNAR SYNOSTOSIS WITH MICROCEPHALY, SHORT STATURE, SCOLIOSIS, AND MENTAL RETARDATION 603396 TONOKI SYNDROME 603394 MICROCEPHALY, SEVERE, WITH SKELETAL ANOMALIES INCLUDING POSTERIOR RIB-GAP DEFECTS 603393 OSTEOSCLEROTIC CHONDRODYSPLASIA, LETHAL, WITH INTRACELLULAR INCLUSIONS 603391 LARYNGOTRACHEAL STENOSIS, PROGRESSIVE, WITH SHORT STATURE AND ARTHROPATHY 603389 OSEBOLD SKELETAL DYSPLASIA/OSTEOLYSIS SYNDROME %603388 GRAVES DISEASE, SUSCEPTIBILITY TO, 2 Gene map locus 20q13.11 603387 MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT %603386 THYROID CARCINOMA, NONMEDULLARY, WITH OR WITHOUT CELL OXYPHILIA Gene map locus 19p13.2 %603383 GLAUCOMA 1, OPEN ANGLE, F; GLC1F Gene map locus 7q35-q36 603376 LONG CHAIN FATTY ACIDS, DEFECT IN TRANSPORT OF #603373 HYPERTHYROIDISM, FAMILIAL GESTATIONAL Gene map locus 14q31 #603358 GRACILE SYNDROME Gene map locus 2q33 #603342 SCHIZOPHRENIA 2; SCZD2 Gene map locus 11q14-q21 603323 MUSCULAR DYSTROPHY, CONGENITAL, WITH CEREBELLAR ATROPHY #603285 CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3 Gene map locus 3q26.1 #603284 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2 Gene map locus 7p13 603282 ZINC FINGER PROTEIN 204; ZNF204 ZINC FINGER PROTEIN 204 PSEUDOGENE, INCLUDED Gene map locus 6p21.3 #603278 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1 Gene map locus 19q13 %603266 DIABETES MELLITUS, INSULIN-DEPENDENT, 17; IDDM17 Gene map locus 10q25 #603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB Gene map locus 20q13.2 %603221 MYOPIA 3; MYP3 Gene map locus 12q21-q23 #603218 HUNTINGTON DISEASE-LIKE 1; HDL1 Gene map locus 20pter-p12 603209 CYTIDINE MONOPHOSPHO-N-ACETYLNEURAMINIC ACID HYDROXYLASE; CMAH Gene map locus 6p22.3-p22.2 603206 SCHIZOPHRENIA 8; SCZD8 Gene map locus 18p %603204 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 2 Gene map locus 15q24 %603194 MECKEL SYNDROME, TYPE 2; MKS2 Gene map locus 11q13 %603188 OBESITY, SUSCEPTIBILITY TO, ON CHROMOSOME 10p; OB10P Gene map locus 10p %603176 SCHIZOPHRENIA 7; SCZD7 Gene map locus 13q32 %603175 SCHIZOPHRENIA 5; SCZD5 Gene map locus 6q23.2 #603174 HOMOCYSTEINEMIA %603165 DERMATITIS, ATOPIC DERMATITIS, ATOPIC, 1, INCLUDED; ATOD1, INCLUDED Gene map locus 20p, 13q12-q14, 5q31-q33, 3q21 #603147 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C Gene map locus 1p22.3 603133 DISLOCATED ELBOWS, BOWED TIBIAS, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND MENTAL RETARDATION 603119 APRAXIA OF EYELID OPENING 603117 SPASTIC PARAPLEGIA, OPTIC ATROPHY, MICROCEPHALY, AND XY SEX REVERSAL %603116 CDAGS SYNDROME Gene map locus 22q12-q13 %603098 DEAFNESS, AUTOSOMAL RECESSIVE 13; DFNB13 Gene map locus 7q34-q36 #603075 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 Gene map locus 19q13.2, 1q24-q25, 10q25.3-q26.2, 6p21.3, 6p21.3 %603047 ASTIGMATISM %603045 LOSS OF HETEROZYGOSITY, CHROMOSOME 18, REGION 1; LOH18CR1 Gene map locus 18q21-q22 #603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE MNGIE WITHOUT LEUKOENCEPHALOPATHY, INCLUDED Gene map locus 22q13.32-qter %603040 TUMOR SUPPRESSOR GENE ON CHROMOSOME 11 Gene map locus 11q23 #603034 ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD Gene map locus 3p25 %603013 SCHIZOPHRENIA 6; SCZD6 Gene map locus 8p21, 8p22-p11 %603010 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 17; DFNB17 Gene map locus 7q31 603003 BILE DUCT CYSTS %602966 OROFACIAL CLEFT 2; OFC2 Gene map locus 2p13 #602875 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM ST. HELENA DYSPLASIA, INCLUDED Gene map locus 9p21-p12 #602849 MUENKE SYNDROME Gene map locus 4p16.3 %602782 HISTIOCYTOSIS WITH JOINT CONTRACTURES AND SENSORINEURAL DEAFNESS Gene map locus 11q25 %602772 RETINITIS PIGMENTOSA 25; RP25 Gene map locus 6q14-q21 #602771 RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1 Gene map locus 1p36-p35 %602759 PROSTATE CANCER, HEREDITARY, 8 Gene map locus 1q42.2-q43 %602723 PSORIASIS SUSCEPTIBILITY 2; PSORS2 Gene map locus 17q25 #602722 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS, INCLUDED Gene map locus 7q33-q34 %602685 MENTAL RETARDATION, SEVERE, WITH SPASTICITY AND PIGMENTARY TAPETORETINAL DEGENERATION Gene map locus 15q24 #602668 DYSTROPHIA MYOTONICA 2; DM2 Gene map locus 3q13.3-q24 %602639 TOOTH AGENESIS, SELECTIVE, 2; STHAG2 Gene map locus 16q12.1 %602629 DYSTONIA 6, TORSION; DYT6 Gene map locus 8p21-q22 602613 SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION, LETHAL 602612 CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS MUSCLE OF EYE 602611 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CORONAL CRANIOSYNOSTOSIS, CATARACTS, CLEFT PALATE, AND MENTAL RETARDATION 602596 PANCREATIC LYMPHOMA, FAMILIAL %602594 RETINITIS PIGMENTOSA 22; RP22 Gene map locus 16p12.3-p12.1 #602588 BRANCHIOOTIC SYNDROME 1; BOS1 602586 ACYL-CoA THIOESTER HYDROLASE, LONG-CHAIN, 1 #602585 MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE Gene map locus 2p24.1 #602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B Gene map locus 15q22-qter 602564 EMPHYSEMA, CONGENITAL, WITH DEAFNESS, PENOSCROTAL WEB, AND MENTAL RETARDATION 602562 MANDIBULOFACIAL DYSOSTOSIS WITH MACROBLEPHARON AND MACROSTOMIA 602561 BRACHYDACTYLY, INTRAVENTRICULAR SEPTAL DEFECT, AND DEAFNESS 602558 CRANIOMICROMELIC SYNDROME 602557 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE 602556 FACIAL DYSMORPHISM, CLEFT PALATE, HEARING LOSS, AND CAMPTODACTYLY 602555 MICROCEPHALY, MACROTIA, AND MENTAL RETARDATION 602554 TORSION DYSTONIA WITH ONSET IN INFANCY 602553 ANAL ATRESIA, HYPOSPADIAS, AND PENOSCROTAL INVERSION 602551 JEJUNAL ATRESIA WITH RENAL ADYSPLASIA 602541 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE #602540 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS Gene map locus 13q11-q12 602535 MARSHALL-SMITH SYNDROME 602531 ARTERIAL OCCLUSIVE DISEASE, PROGRESSIVE, WITH HYPERTENSION, HEART DEFECTS, BONE FRAGILITY, AND BRACHYSYNDACTYLY #602522 BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS BARTTER SYNDROME, TYPE 4, DIGENIC, INCLUDED Gene map locus 1p31, 1p36, 1p36 602511 PSEUDOACROMEGALY WITH SEVERE INSULIN RESISTANCE 602501 MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA %602499 MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA; MACOM 602497 CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC, AUTOSOMAL #602491 HYPERLIPIDEMIA, COMBINED, 1 Gene map locus 1q22-q23 #602485 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3 Gene map locus 7p15-p13 602484 PELVIC HYPOPLASIA WITH LOWER-LIMB ARTHROGRYPOSIS %602483 AURICULOCONDYLAR SYNDROME %602482 AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND SENSORINEURAL HEARING LOSS #602481 MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 MIGRAINE, FAMILIAL BASILAR, INCLUDED Gene map locus 1q21-q23 %602477 FEBRILE CONVULSIONS, FAMILIAL, 2; FEB2 Gene map locus 19p13.3 #602475 OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL Gene map locus 6q22-q23, 21q22.3 #602473 ENCEPHALOPATHY, ETHYLMALONIC Gene map locus 19q13.32 602472 CREASES, INFRA-AURICULAR CUTANEOUS, WITH TALL STATURE AND ADVANCED BONE AGE 602471 SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES #602459 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 15; DFNA15 Gene map locus 5q31 602455 REGENERATION-ASSOCIATED SERPIN-1 #602450 SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE, INCLUDED; SCIDA, INCLUDED Gene map locus 10p %602440 AMYOTROPHY, MONOMELIC %602439 ACUTE MYELOGENOUS LEUKEMIA ACUTE MYELOID LEUKEMIA CHROMOSOME REGION 2, INCLUDED; AMLCR2, INCLUDED Gene map locus 16q22 #602433 AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4 Gene map locus 9q34 %602429 GLAUCOMA 1, OPEN ANGLE, D; GLC1D Gene map locus 8q23 602418 WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME %602404 PARKINSON DISEASE 3, AUTOSOMAL DOMINANT LEWY BODY; PARK3 Gene map locus 2p13 602401 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL RECESSIVE 602400 ICHTHYOSIS, FOLLICULAR ATROPHODERMA, HYPOTRICHOSIS, AND HYPOHIDROSIS #602398 DESMOSTEROLOSIS Gene map locus 1p33-p31.1 #602390 HEMOCHROMATOSIS, JUVENILE; JH HEMOCHROMATOSIS DUE TO DEFECT IN HEMOJUVELIN, INCLUDED Gene map locus 19q13, 1q21 602361 GRACILE BONE DYSPLASIA #602347 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3; PFIC3 Gene map locus 7q21.1 602342 PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY 602340 SENSORINEURAL HEARING LOSS, RETINAL PIGMENT EPITHELIUM LESIONS, DISCOLORED TEETH 602271 SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL 602252 MITOCHONDRIAL INTERMEMBRANE SPACE PROTEIN TIM12, YEAST, HOMOLOG OF 602249 PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES %602248 MALIGNANT ATROPHIC PAPULOSIS %602247 XANTHOMATOSIS, SUSCEPTIBILITY TO %602200 VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY %602199 MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY 602197 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3 Gene map locus 17q25 %602196 PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES 602152 RHYNS SYNDROME %602134 TREMOR, HEREDITARY ESSENTIAL, 2; ETM2 Gene map locus 2p25-p22 %602124 DYSTONIA 7, TORSION; DYT7 CERVICAL DYSTONIA, PRIMARY, INCLUDED Gene map locus 18p 602114 NEPHROPATHY, PROGRESSIVE TUBULOINTERSTITIAL, WITH CHOLESTATIC LIVER DISEASE #602111 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, TYPE II Gene map locus 11q22.3 602107 NEUROPATHY, HEREDITARY THERMOSENSITIVE %602099 AMYOTROPHIC LATERAL SCLEROSIS 5; ALS5 Gene map locus 15q15.1-q21.1 %602097 USHER SYNDROME, TYPE IE; USH1E Gene map locus 21q21 %602096 ALZHEIMER DISEASE 5 Gene map locus 12p11.23-q13.12 #602093 CONE DYSTROPHY 3; COD3 Gene map locus 6p21.1 #602092 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 18; DFNB18 Gene map locus 11p15.1 %602089 HEMANGIOMA, CAPILLARY INFANTILE Gene map locus 5q35.3, 5q31-q33, 4q12 #602088 NEPHRONOPHTHISIS 2; NPHP2 Gene map locus 9q31 %602087 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 4; ARVD4 Gene map locus 2q32.1-q32.3 %602086 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 3; ARVD3 Gene map locus 14q12-q22 %602085 POLYDACTYLY, POSTAXIAL, TYPE A2 Gene map locus 13q21-q32 #602083 USHER SYNDROME, TYPE IF; USH1F Gene map locus 10q21-q22 %602082 CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II; CDB2 Gene map locus 10q24, 5q31 #602081 SPEECH-LANGUAGE DISORDER 1; SPCH1 Gene map locus 7q31 #602080 PAGET DISEASE OF BONE; PDB Gene map locus 18q22.1, 5q35, 5q31 #602079 TRIMETHYLAMINURIA; TMAU Gene map locus 1q23-q25 #602078 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2 Gene map locus 11q13.3-q13.4 %602071 BROAD TERMINAL PHALANGES, FAMILIAL 602068 LEISHMANIASIS, TEGUMENTARY %602067 CARDIOMYOPATHY, DILATED, 1F; CMD1F Gene map locus 6q23 %602066 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; ICCA Gene map locus 16p12-q12 #602036 ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC Gene map locus 1q21 #602032 ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE Gene map locus 12q13 %602025 OBESITY QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 20 Gene map locus 20q13.11-q13.2 #602014 HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA; HOMG HYPOMAGNESEMIA 1, INTESTINAL, INCLUDED; HOMG1, INCLUDED Gene map locus 9q22 %601992 FRIEDREICH ATAXIA 2 Gene map locus 9p23-p11 601979 HYPERZINCEMIA WITH FUNCTIONAL ZINC DEPLETION 601977 THROMBOCYTOSIS, BENIGN FAMILIAL MICROCYTIC 601976 OTOFACIOOSSEOUS-GONADAL SYNDROME 601957 ODONTOTRICHOUNGUAL-DIGITAL-PALMAR SYNDROME #601954 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G; LGMD2G Gene map locus 17q12 601952 KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA #601942 DIABETES MELLITUS, INSULIN-DEPENDENT, 10; IDDM10 Gene map locus 10p15.1 %601941 DIABETES MELLITUS, INSULIN-DEPENDENT, 6; IDDM6 Gene map locus 18q21 601927 LYMPHEDEMA, CARDIAC SEPTAL DEFECTS, AND CHARACTERISTIC FACIES #601894 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 Gene map locus 1q32, 2q34 %601888 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 6 Gene map locus 5p #601887 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 Gene map locus 1q32 #601885 CATARACT, ZONULAR PULVERULENT 3; CZP3 Gene map locus 13q11 #601884 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1 HIGH BONE MASS, INCLUDED; HBM, INCLUDED Gene map locus 11q13.4 601876 SPERM-SPECIFIC ANTIGEN 1; SSFA1 %601869 DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15 Gene map locus 3q #601868 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 13; DFNA13 Gene map locus 6p21.3 #601859 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, INCLUDED; ALPS1A, INCLUDED Gene map locus 10q24.1 601853 CEREBELLOTRIGEMINAL DERMAL DYSPLASIA #601847 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2; PFIC2 Gene map locus 2q24 %601846 VACUOLAR NEUROMYOPATHY Gene map locus 19p13.3 601829 ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE #601820 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2 Gene map locus 11p15.1 601816 BILIRUBIN, ELEVATED CONCENTRATIONS OF, IN SERUM #601815 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY Gene map locus 1q12 #601813 EXUDATIVE VITREORETINOPATHY 4; EVR4 Gene map locus 11q13.4 601812 PREMATURE AGING SYNDROME, PENTTINEN TYPE 601811 PREMATURE AGING SYNDROME, OKAMOTO TYPE 601809 SPONDYLOSPINAL THORACIC DYSOSTOSIS #601808 CHROMOSOME 18q DELETION SYNDROME #601803 PALLISTER-KILLIAN SYNDROME; PKS #601800 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3 Gene map locus 11q14-q21 %601794 COLOBOMA-OBESITY-HYPOGENITALISM-MENTAL RETARDATION SYNDROME #601780 CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6 NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, VARIANT, INCLUDED; vLINCL, INCLUDED Gene map locus 15q21-q23 #601777 CONE-ROD DYSTROPHY 6; CORD6 Gene map locus 17p13.1 %601776 ADDUCTED THUMB-CLUBFOOT SYNDROME 601775 FOLATE LEVEL IN ERYTHROCYTES %601764 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1 Gene map locus 19q 601759 PREAXIAL HALLUCAL POLYDACTYLY #601744 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1; SLEB1 SYSTEMIC LUPUS ERYTHEMATOSUS, RESISTANCE TO, 1, INCLUDED Gene map locus 1q41-q42, 1q41-q42 #601718 RETINITIS PIGMENTOSA 19; RP19 Gene map locus 1p21-p13 %601709 QUEBEC PLATELET DISORDER; QPD 601708 SUPERIOR TRANSVERSE SCAPULAR LIGAMENT, CALCIFICATION OF, FAMILIAL 601707 CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL SKIN AND GUT DEVELOPMENT #601706 YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME Gene map locus 22q13 #601705 T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY Gene map locus 17q11-q12 601701 ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA %601700 SEBACEOUS GLAND HYPERPLASIA, FAMILIAL PRESENILE 601696 NOVELTY SEEKING PERSONALITY TRAIT Gene map locus 11p15.5 %601694 LEPTIN, SERUM LEVELS OF Gene map locus 2p21 %601682 GLAUCOMA 1, OPEN ANGLE, C; GLC1C Gene map locus 3q21-q24 #601680 ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B Gene map locus 17p13.1, 11p15.5, 11p15.5, 9p13.2-p13.1 #601678 BARTTER SYNDROME, ANTENATAL, TYPE 1 Gene map locus 15q15-q21.1 %601676 ACUTE INSULIN RESPONSE Gene map locus 1p31 #601675 TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED Gene map locus 19q13.2-q13.3, 6p25.3, 2q21 601668 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION %601666 DIABETES MELLITUS, INSULIN-DEPENDENT, 15; IDDM15 Gene map locus 6q21 #601665 OBESITY LEANNESS, INCLUDED Gene map locus 20q13.2, 18q22, 16q22, 16q12.2, 1pter-p22.3, 11q13, 11q13, 10q, 10p, 8p12-p11.2, 6q22-q23, 6q16.3-q21, 5q33, 5q32-q34, 5q13.2, 4q31, 4p15-p14, 3p25, 3p26-p25, 1p36.1 %601650 PARAGANGLIOMAS 2; PGL2 Gene map locus 11q13.1 #601634 NEURAL TUBE DEFECTS, FOLATE-SENSITIVE SPINA BIFIDA, FOLATE-SENSITIVE, INCLUDED Gene map locus 14q24, 5p15.3-p15.2, 1q43 #601631 IRIDOGONIODYSGENESIS, TYPE 1; IRID1 GLAUCOMA IRIDOGONIODYSPLASIA, FAMILIAL, INCLUDED Gene map locus 6p25 #601626 LEUKEMIA, ACUTE MYELOID; AML Gene map locus 19q13.1, 19p13.3, 16q22, 13q12, 12p13, 11q23.3, 11q14, 10p12, 9q34.1, 9p24, 8p12, 5q35, 5q35, 4q12, 4q11-q12, 3q28, 3q25.1, 3q24, 21q22.3 %601616 IRIS PIGMENT EPITHELIUM ANOMALIES %601612 LUNG AGENESIS 601608 SPASTIC PARAPLEGIA AND EVANS SYNDROME #601606 TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1 Gene map locus 16q12-q13 #601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C Gene map locus 5q32 #601588 EPIDERMAL DIFFERENTIATION COMPLEX; EDC #601583 WILMS TUMOR 5; WT5 Gene map locus 7p14-p13 601563 HORNS IN SHEEP 601561 DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA 601560 MULTIPLE EPIPHYSEAL DYSPLASIA WITH ROBIN PHENOTYPE #601559 STUVE-WIEDEMANN SYNDROME Gene map locus 5p13.1 #601553 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD Gene map locus 16q22.1 %601552 ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM #601551 BLOOD GROUP--FROESE #601550 BLOOD GROUP--SWANN SYSTEM; SW %601549 ALACRIMA #601547 CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2 Gene map locus 22q11.2-q12.2 #601544 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3; DFNA3 Gene map locus 13q12, 13q11-q12 #601543 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 12; DFNA12 Gene map locus 11q22-q24 #601539 PEROXISOME BIOGENESIS DISORDERS; PBD %601537 MICROCEPHALY, RETINITIS PIGMENTOSA, AND SUTURAL CATARACT #601536 ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS BOSLEY-SALIH-ALORAINY SYNDROME, INCLUDED; BSAS, INCLUDED Gene map locus 7p15.3 #601518 PROSTATE CANCER, HEREDITARY, 1; HPC1 Gene map locus 1q25 %601499 RIEGER SYNDROME, TYPE 2; RIEG2 Gene map locus 13q14 #601495 AGAMMAGLOBULINEMIA, NON-BRUTON TYPE, AUTOSOMAL RECESSIVE AGAMMAGLOBULINEMIA, NON-BRUTON TYPE, AUTOSOMAL DOMINANT, INCLUDED Gene map locus 14q32.33, 9q34.13, 22q11.21 #601494 CARDIOMYOPATHY, DILATED, 1D; CMD1D Gene map locus 1q32 #601493 CARDIOMYOPATHY, DILATED, 1C; CMD1C CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION, INCLUDED Gene map locus 10q21-q23 #601492 HYALURONIDASE DEFICIENCY Gene map locus 3p21.3-p21.2 601477 RIBBING DISEASE #601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D Gene map locus 7p15 %601471 FACIAL PARESIS, HEREDITARY, CONGENITAL; HCFP1 Gene map locus 3q21-q22 601466 PATENT DUCTUS VENOSUS; PDV #601462 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS Gene map locus 17p12-p11, 17p13-p12, 2q33-q34, 2q24-q32 %601458 INFLAMMATORY BOWEL DISEASE 2; IBD2 Gene map locus 12p13.2-q24.1 #601457 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE Gene map locus 11p13, 11p13 #601455 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D Gene map locus 8q24.3 %601454 PSORIASIS SUSCEPTIBILITY 3; PSORS3 Gene map locus 4q 601453 TRICHODENTAL DYSPLASIA 601452 OCULOAURICULOFRONTONASAL SYNDROME; OAFNS #601451 NEVO SYNDROME Gene map locus 1p36.3-p36.2 601450 DISLOCATION OF HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS AND FACIAL DYSMORPHISM 601449 DEAFNESS, PROGRESSIVE, WITH STAPES FIXATION 601438 RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE 601427 ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM, AND TRACHEAL STENOSIS 601420 MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE #601419 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED Gene map locus 2q35 #601414 RETINITIS PIGMENTOSA 18; RP18 Gene map locus 1q21.2 %601412 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 7; DFNA7 Gene map locus 1q21-q23 %601410 DIABETES MELLITUS, TRANSIENT NEONATAL, 1 Gene map locus 6q24, 6q24, 6q24 %601407 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2; NIDDM2 Gene map locus 12q24.2 #601399 PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY Gene map locus 21q22.3 601390 CEREBROFACIOARTICULAR SYNDROME 601389 CERVICAL RIBS, SPRENGEL ANOMALY, ANAL ATRESIA, AND URETHRAL OBSTRUCTION #601388 DIABETES MELLITUS, INSULIN-DEPENDENT, 12; IDDM12 Gene map locus 2q33 #601386 DEAFNESS, AUTOSOMAL RECESSIVE 12; DFNB12 Gene map locus 10q21-q22, 3p26-p25 #601382 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1 Gene map locus 11q22 601379 HUNTER-MCALPINE CRANIOSYNOSTOSIS SYNDROME #601378 CRISPONI SYNDROME Gene map locus 19p12 601376 CHONDRODYSPLASIA, LETHAL, WITH LONG BONE ANGULATION AND MIXED BONE DENSITY 601375 ECTODERMAL DYSPLASIA, HIDROTIC, CHRISTIANSON-FOURIE TYPE 601374 APROSENCEPHALY AND CEREBELLAR DYSGENESIS 601372 CHOREA, REMITTING, WITH NYSTAGMUS AND CATARACT 601371 CATARACT, AGE-RELATED NUCLEAR 601370 HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS #601369 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 9; DFNA9 Gene map locus 14q12-q13 #601367 STROKE, ISCHEMIC Gene map locus 14q22-q23, 13q12, 7q36 %601363 WILMS TUMOR 4 Gene map locus 17q12-q21 %601362 DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME SPECTRUM OF MALFORMATION 2 Gene map locus 10p14-p13 601360 AMELIA, AUTOSOMAL RECESSIVE 601359 SEBACEOUS NEVUS SYNDROME AND HEMIMEGALENCEPHALY 601358 NICOLAIDES-BARAITSER SYNDROME 601357 BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS 601356 LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE 601355 MICROCEPHALY, CONGENITAL HEART DISEASE, UNILATERAL RENAL AGENESIS, AND HYPOSEGMENTED LUNGS 601353 BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION 601352 MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE 601351 GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMAL DUCT OBSTRUCTION 601350 SHORT STATURE SYNDROME, BRUSSELS TYPE #601349 MICROPHTHALMIA, SYNDROMIC 8; MCOPS8 Gene map locus 6q21 601348 ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA 601347 MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE, AND PSYCHOMOTOR DELAY 601346 GASTROINTESTINAL ABNORMALITIES, MULTIPLE 601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE 601344 SPINAL DYSPLASIA, ANHALT TYPE 601341 ATROPHIA MACULOSA VARIOLIFORMIS CUTIS, FAMILIAL; AMVC 601338 CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS 601331 RENAL DYSPLASIA, DIFFUSE CYSTIC 601322 PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS #601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Gene map locus 17q11.2 601319 ODONTOMICRONYCHIAL DYSPLASIA %601318 DIABETES MELLITUS, INSULIN-DEPENDENT, 13; IDDM13 Gene map locus 2q34 #601317 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 11; DFNA11 Gene map locus 11q13.5 #601316 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 10; DFNA10 Gene map locus 6q23 601315 EPITHELIAL BASOLATERAL CHLORIDE CONDUCTANCE REGULATOR, RABBIT, HOMOLOG OF #601287 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F Gene map locus 5q33 #601286 CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT Gene map locus 2q33-q35 #601283 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1; NIDDM1 Gene map locus 2q37.3 #601277 ICHTHYOSIS, LAMELLAR, 2; LI2 Gene map locus 2q34 601276 ZINC FINGER PROTEIN 177; ZNF177 Gene map locus 3q29 %601251 RETINAL CONE DYSTROPHY 2 Gene map locus 17p #601238 CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY Gene map locus 19p13.3 601230 DERMATITIS HERPETIFORMIS, FAMILIAL %601228 POLYPOSIS SYNDROME, HEREDITARY MIXED, 1; HMPS1 Gene map locus 15q15.3-q22.1 #601224 POTOCKI-SHAFFER SYNDROME Gene map locus 11p11.2 601223 NEURONAL INTESTINAL DYSPLASIA, TYPE B 601222 CRANIOSYNOSTOSIS, PHILADELPHIA TYPE 601220 OSTEOPOROSIS AND OCULOCUTANEOUS HYPOPIGMENTATION SYNDROME; OOCH 601217 ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPIC HYPOGONADISM 601216 PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA #601214 NAXOS DISEASE Gene map locus 17q21 %601208 DIABETES MELLITUS, INSULIN-DEPENDENT, 11; IDDM11 Gene map locus 14q24.3-q31 %601202 CATARACT, ANTERIOR POLAR, 2; CTAA2 Gene map locus 17p13 601200 PLEUROPULMONARY BLASTOMA 601195 IRON OVERLOAD IN AFRICA 601187 GURRIERI SYNDROME #601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9 Gene map locus 15q24.1 601174 IMIDAZOLINE RECEPTOR 601171 SERPIN-LIKE PROTEIN B43, BOVINE 601170 MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM ATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS 601165 CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION, AND LETHAL CONGENITAL HEART DISEASE 601163 DIAPHRAGMATIC DEFECTS, LIMB DEFICIENCIES, AND OSSIFICATION DEFECTS OF SKULL %601162 SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; SPG9 Gene map locus 10q23.3-q24.1 601161 TRISOMY 18-LIKE SYNDROME 601160 LISSENCEPHALY TYPE III AND BONE DYSPLASIA #601154 CARDIOMYOPATHY, DILATED, 1E; CMD1E Gene map locus 3p21 #601152 HEREDITARY MOTOR AND SENSORY NEUROPATHY VI Gene map locus 1p36.2 #601144 BRUGADA SYNDROME 1 Gene map locus 3p21 601138 GUANYLYL CYCLASE, MEMBRANE, TYPE E; GUCY2E 601137 GUANYLYL CYCLASE, MEMBRANE, TYPE D, MURINE 601127 FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION #601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D Gene map locus 3q27 #601104 SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1 Gene map locus 17q21.1 %601101 OSLER-RENDU-WEBER SYNDROME 3; ORW3 Gene map locus 5q31.3-q32 #601098 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C Gene map locus 16p13.3-p12 601096 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC 601095 HARROD SYNDROME 601088 CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION %601086 LATERALITY DEFECTS, AUTOSOMAL DOMINANT Gene map locus 6p21 %601085 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, AUTOSOMAL DOMINANT; RESDAD 601083 CD4/CD8 T-CELL RATIO 601076 MURCS ASSOCIATION 601075 APLASIA CUTIS CONGENITA, HIGH MYOPIA, AND CONE-ROD DYSFUNCTION #601072 DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8; DFNB8 Gene map locus 21q22.3 #601071 DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9 AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, INCLUDED; AUNB1, INCLUDED Gene map locus 2p23-p22 %601068 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 1 Gene map locus 8q24 #601067 USHER SYNDROME, TYPE ID; USH1D USHER SYNDROME, TYPE ID/F, INCLUDED Gene map locus 10q21-q22, 10q21-q22 %601042 CHOREOATHETOSIS/SPASTICITY, EPISODIC; CSE Gene map locus 1p 601039 ICHTHYOSIS-MENTAL RETARDATION SYNDROME WITH LARGE KERATOHYALIN GRANULES IN THE SKIN 601027 TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES 601016 MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM #601005 TIMOTHY SYNDROME; TS Gene map locus 12p13.3 601004 PORTAL VEIN, CAVERNOUS TRANSFORMATION OF #601003 BRODY MYOPATHY Gene map locus 16p12 #601001 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE Gene map locus 17q12-q21 #600996 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2; ARVD2 Gene map locus 1q42.1-q43 #600995 NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE; SRN1 Gene map locus 1q25-q31 #600994 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 5; DFNA5 Gene map locus 7p15 600991 HYDROCEPHALUS, SKELETAL ANOMALIES, AND MENTAL DISTURBANCE 600989 INFUNDIBULOPELVIC DYSGENESIS 600987 CARDIAC MALFORMATION, CLEFT LIP-PALATE, MICROCEPHALY AND DIGITAL ANOMALIES #600977 CONE-ROD DYSTROPHY 5; CORD5 Gene map locus 17p13-p12 %600975 GLAUCOMA 3, PRIMARY INFANTILE, B; GLC3B Gene map locus 1p36.2-p36.1 #600974 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 7; DFNB7 Gene map locus 9q13-q21 #600972 ACHONDROGENESIS, TYPE IB; ACG1B Gene map locus 5q32-q33.1 #600971 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 6; DFNB6 Gene map locus 3p21 #600969 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPATHY, INCLUDED Gene map locus 20q13.3 #600965 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 6; DFNA6 Gene map locus 4p16.1 %600964 REFSUM DISEASE WITH INCREASED PIPECOLIC ACIDEMIA; RDPA Gene map locus 10pter-p11.2 #600962 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK Gene map locus 17q12-q21, 12q13 #600955 PROPROTEIN CONVERTASE 1 DEFICIENCY Gene map locus 5q15-q21 600952 TRANSSEXUALITY 600931 PROTOCADHERIN 3 %600920 VAN DEN ENDE-GUPTA SYNDROME; VDEGS #600919 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED LONG QT SYNDROME 4, INCLUDED; LQT4, INCLUDED Gene map locus 4q25-q27 600908 AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS 600907 ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS 600906 ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY 600903 WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM #600886 HYPERFERRITINEMIA-CATARACT SYNDROME Gene map locus 19q13.3-q13.4 %600884 CARDIOMYOPATHY, DILATED, 1B; CMD1B Gene map locus 9q13 %600883 DIABETES MELLITUS, INSULIN-DEPENDENT, 8; IDDM8 Gene map locus 6q25-q27 #600882 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B Gene map locus 3q21 #600881 CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES; CCZS Gene map locus 17q11.1-q12 #600880 BUDD-CHIARI SYNDROME MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA, INCLUDED; MOVC, INCLUDED Gene map locus 1q23, 9p24 600878 RECEPTOR TYROSINE KINASE NSK2 #600858 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME Gene map locus 7q36 #600852 RETINITIS PIGMENTOSA 17; RP17 Gene map locus 17q23 600851 MITOCHONDRIAL IMPORT-STIMULATING FACTOR #600850 SCHIZOPHRENIA 4; SCZD4 Gene map locus 22q11.2 %600808 ENURESIS, NOCTURNAL, 2; ENUR2 Gene map locus 12q13-q21 #600807 ASTHMA, SUSCEPTIBILITY TO ASTHMA, PROTECTION AGAINST, INCLUDED Gene map locus 17q21.1-q21.2, 13q14.1, 11q12.3-q13.1, 10q11.2, 6p21.2-p12, 6p21.3, 6p21.3, 5q32-q34, 5q31.1-q33.1, 5q31-q34, 5q31, 4q13-q21, 2q22 #600803 GALLBLADDER DISEASE 1; GBD1 Gene map locus 7q21.1 #600802 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE Gene map locus 11q23, 5p13 600801 ISOPROTERENOL-MEDIATED VASODILATATION #600795 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3 Gene map locus 3p11.2 #600794 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V; HMN5 Gene map locus 11q13, 7p15 %600792 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 5; DFNB5 Gene map locus 14q12 #600791 ENLARGED VESTIBULAR AQUEDUCT; EVA Gene map locus 5q34 %600790 CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL Gene map locus 6q14-q16.2 %600785 VITAMIN D-DEPENDENT RICKETS, TYPE II, WITH NORMAL VITAMIN D RECEPTOR 600776 FRYNS MICROPHTHALMIA SYNDROME 600775 LAMBDOID SYNOSTOSIS %600771 DWARFISM, FAMILIAL, WITH MUSCLE SPASMS %600757 OROFACIAL CLEFT 3; OFC3 Gene map locus 19q13 %600740 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III; HHC3 Gene map locus 19q13 #600737 INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; IBM2 Gene map locus 9p12-p11 600736 VELOFACIOSKELETAL SYNDROME #600721 D-2-@HYDROXYGLUTARIC ACIDURIA Gene map locus 2p25.3 600706 PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA 600705 SATOYOSHI SYNDROME 600679 DERMOID CYSTS, FAMILIAL FRONTONASAL %600674 MICROTIA-ANOTIA 600670 VARICELLA, SEVERE RECURRENT #600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG Gene map locus 18q21, 14q23, 9q32-q33, 8q24, 6q24-q25, 2q22-q23 %600668 CHONDROCALCINOSIS 1; CCAL1 Gene map locus 8q 600666 POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT; PKD3 #600652 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 4; DFNA4 Gene map locus 19q13.33 #600651 FRAGILE SITE 11B; FRA11B #600649 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE Gene map locus 1p32 #600648 NEVUS, EPIDERMAL, EPIDERMOLYTIC HYPERKERATOTIC TYPE EPIDERMOLYTIC HYPERKERATOSIS, LINEAR FORM, INCLUDED Gene map locus 17q21-q22 600643 CAROLI DISEASE, ISOLATED %600638 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 3; CFEOM3 FIBROSIS, CONGENITAL, OF VERTICALLY ACTING EXTRAOCULAR MUSCLES, INCLUDED Gene map locus 16q24.2-q24.3 #600634 PITUITARY ADENOMA, PROLACTIN-SECRETING Gene map locus 11q13.3 %600631 ENURESIS, NOCTURNAL, 1; ENUR1 Gene map locus 13q13-q14.3 #600630 UV-SENSITIVE SYNDROME; UVS 600628 LOOSE ANAGEN HAIR SYNDROME 600627 HYPERTRYPTOPHANEMIA, FAMILIAL 600625 CLEFT LIP, CONGENITAL HEALED %600624 CONE-ROD DYSTROPHY 1; CORD1 Gene map locus 18q21.1-q21.3 600598 SETTING-SUN PHENOMENON, FAMILIAL BENIGN %600593 CRANIOSYNOSTOSIS, ADELAIDE TYPE; CRSA Gene map locus 4p16 600561 SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY 600559 HYDROCEPHALUS, ENDOCARDIAL FIBROELASTOSIS, AND CATARACTS 600546 INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY #600513 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1 Gene map locus 20q13.2-q13.3 #600512 EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE Gene map locus 10q24 %600511 SCHIZOPHRENIA 3; SCZD3 Gene map locus 6p23 %600510 GLAUCOMA-RELATED PIGMENT DISPERSION SYNDROME Gene map locus 7q35-q36 #600501 ABCD SYNDROME Gene map locus 13q22 #600496 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3 Gene map locus 12q24.2 %600467 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4 Gene map locus 3q13.1 #600462 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA; MLASA Gene map locus 12q24.33 600461 HEMOLYTIC ANEMIA, LETHAL CONGENITAL NONSPHEROCYTIC, WITH GENITAL AND OTHER ABNORMALITIES 600460 CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY 600459 ARTERIAL DISSECTION WITH LENTIGINOSIS 600458 ADENOMYOSIS 600457 HYPERTRICHOSIS, ANTERIOR CERVICAL %600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME Gene map locus 2q37 600419 ANGIOKERATOMA CORPORIS DIFFUSUM WITH ARTERIOVENOUS FISTULAS 600416 MUSCULAR DYSTROPHY, SCAPULOHUMERAL %600399 PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, DYSPLASTIC NAILS %600384 APHALANGIA, PARTIAL, WITH SYNDACTYLY AND DUPLICATION OF METATARSAL IV %600383 MESOMELIA-SYNOSTOSES SYNDROME #600376 OSLER-RENDU-WEBER SYNDROME 2; ORW2 HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION, INCLUDED Gene map locus 12q11-q14 600373 CODAS SYNDROME #600363 SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6 Gene map locus 15q11.1 %600361 HEREDITARY MOTOR AND SENSORY NEUROPATHY V %600360 APLASIA CUTIS CONGENITA OF LIMBS, RECESSIVE 600356 PACHYDERMODACTYLY, FAMILIAL 600351 ENTEROPATHY, FAMILIAL, WITH VILLOUS EDEMA AND IMMUNOGLOBULIN G2 DEFICIENCY 600348 BAND HETEROTOPIA OF BRAIN 600347 BREVICAN %600343 PAROTID SALIVARY GLANDS, POLYCYSTIC DISEASE OF %600335 SUCCINIC ACIDEMIA #600334 TIBIAL MUSCULAR DYSTROPHY, TARDIVE Gene map locus 2q31 600333 MOTOR NEURON DISEASE WITH DEMENTIA AND OPHTHALMOPLEGIA %600332 RIPPLING MUSCLE DISEASE 1; RMD1 Gene map locus 1q41 600331 PARC SYNDROME 600330 SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME 600329 OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY 600325 AMINOPTERIN SYNDROME SINE AMINOPTERIN %600321 DIABETES MELLITUS, INSULIN-DEPENDENT, 7; IDDM7 Gene map locus 2q31 #600320 DIABETES MELLITUS, INSULIN-DEPENDENT, 5; IDDM5 Gene map locus 6q25 %600319 DIABETES MELLITUS, INSULIN-DEPENDENT, 4; IDDM4 Gene map locus 11q13 %600318 DIABETES MELLITUS, INSULIN-DEPENDENT, 3; IDDM3 Gene map locus 15q26 #600316 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 3; DFNB3 Gene map locus 17p11.2 #600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD ATRIOVENTRICULAR CANAL DEFECT; AVCD Gene map locus 1p31-p21, 6q21-q23.2 600302 FRYNS MACROCEPHALY #600274 FRONTOTEMPORAL DEMENTIA; FTD PICK COMPLEX, INCLUDED Gene map locus 17q21.1, 14q24.3 #600273 POLYCYSTIC KIDNEY DISEASE, INFANTILE SEVERE, WITH TUBEROUS SCLEROSIS; PKDTS Gene map locus 16p13.3 600269 SHORT TARSUS WITH ABSENCE OF LOWER EYELASHES; STALE 600268 APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS #600263 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO Gene map locus 7q31.3, 6q23-q24 #600257 BOR-DUANE HYDROCEPHALUS CONTIGUOUS GENE SYNDROME %600256 HYDROCEPHALUS, AUTOSOMAL DOMINANT 600252 LOWRY-MACLEAN SYNDROME 600251 OCULOMAXILLOFACIAL DYSPLASIA WITH OBLIQUE FACIAL CLEFTS #600224 SPINOCEREBELLAR ATAXIA 5; SCA5 Gene map locus 11q13 %600223 SPINOCEREBELLAR ATAXIA 4; SCA4 Gene map locus 16q22.1 %600209 EXOSTOSES, MULTIPLE, TYPE III; EXT3 Gene map locus 19p #600208 MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS Gene map locus 22q11.2 #600204 EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2 Gene map locus 1p33-p32.2 #600202 DYSLEXIA, SUSCEPTIBILITY TO, 2; DYX2 Gene map locus 6p22.2 #600195 VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM Gene map locus 9p21 %600193 WAARDENBURG SYNDROME, TYPE IIB; WS2B Gene map locus 1p21-p13.3 600176 PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES %600175 SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE Gene map locus 12q23-q24 600171 GONADAL AGENESIS 600166 HYPERPARATHYROIDISM, PRIMARY, CAUSED BY WATER CLEAR CELL HYPERPLASIA %600165 NANOPHTHALMOS 1; NNO1 Gene map locus 11p 600159 PTERYGIUM COLLI AND MENTAL RETARDATION WITH FACIAL AND DIGITAL ANOMALIES %600156 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5; HSCR5 Gene map locus 21q22 #600155 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2 Gene map locus 13q22 #600149 GLYCEROL KINASE, TESTICULAR, TYPE B 600148 GLYCEROL KINASE, TESTICULAR, TYPE A 600146 SPASTIC PARAPLEGIA 5B, AUTOSOMAL RECESSIVE; SPG5B #600145 SACRAL DEFECT WITH ANTERIOR MENINGOCELE CAUDAL DYSGENESIS SYNDROME, INCLUDED Gene map locus 1p13 #600143 CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8 Gene map locus 8pter-p22 %600142 CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CARASIL 600139 SUBEPENDYMOMA #600138 RETINITIS PIGMENTOSA 11; RP11 Gene map locus 19q13.4 #600132 RETINITIS PIGMENTOSA 14; RP14 Gene map locus 6p21.3 %600131 EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1 Gene map locus 8q24 600123 ATRIOVENTRICULAR SEPTAL DEFECT WITH BLEPHAROPHIMOSIS AND ANAL AND RADIAL DEFECTS 600122 MALE PSEUDOHERMAPHRODITISM/MENTAL RETARDATION SYNDROME, VERLOES TYPE #600121 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3 Gene map locus 2q31 #600118 WARBURG MICRO SYNDROME; WARBM Gene map locus 2q21.3 600117 DYSPHASIA, FAMILIAL DEVELOPMENTAL #600116 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2 Gene map locus 6q25.2-q27 #600110 STARGARDT DISEASE 3; STGD3 MACULAR DYSTROPHY, AUTOSOMAL DOMINANT, CHROMOSOME 6-LINKED, INCLUDED; ADMD, INCLUDED Gene map locus 6q14 #600105 RETINITIS PIGMENTOSA 12; RP12 RETINITIS PIGMENTOSA WITH PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM, INCLUDED Gene map locus 1q31-q32.1 #600101 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2; DFNA2 Gene map locus 1p34, 1p35.1 600096 PUERTO RICAN INFANT HYPOTONIA SYNDROME %600095 SPLIT-HAND/FOOT MALFORMATION 3; SHFM3 Gene map locus 10q24 600093 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH CHARACTERISTIC FACIES 600092 CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME 600089 PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS Gene map locus Chr.6 600084 MACROCYTOSIS, FAMILIAL 600082 PROSTATIC HYPERPLASIA, BENIGN; BPH #600081 25-@HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE Gene map locus 11p15.2 600080 MYELOCYTIC LEUKEMIA-LIKE SYNDROME, FAMILIAL, CHRONIC #600072 FATAL FAMILIAL INSOMNIA; FFI Gene map locus 20pter-p12 #600060 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 2; DFNB2 Gene map locus 11q13.5 #600059 RETINITIS PIGMENTOSA 13; RP13 Gene map locus 17p13.3 %600057 EXSTROPHY OF BLADDER BLADDER EXSTROPHY AND EPISPADIAS COMPLEX, INCLUDED; BEEC, INCLUDED %600048 BREAST CANCER, 11-22 TRANSLOCATION ASSOCIATED Gene map locus 11q23 #600002 EIKEN SKELETAL DYSPLASIA Gene map locus 3p22-p21.1 600001 PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE 600000 SPONDYLOCAMPTODACTYLY #598500 WOLFRAM SYNDROME, MITOCHONDRIAL FORM #580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED Gene map locus 22q13 #560000 RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA DUE TO DUPLICATION OF MITOCHONDRIAL DNA #557000 PEARSON MARROW-PANCREAS SYNDROME #556500 PARKINSON DISEASE, MITOCHONDRIAL #553000 ONCOCYTOMA #551500 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA #551200 NEPHROPATHY, CHRONIC TUBULOINTERSTITIAL #551000 MYOPATHY, MITOCHONDRIAL, LETHAL INFANTILE; LIMM #550500 MYOGLOBINURIA, RECURRENT #545000 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF #540000 MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS #535000 LEBER OPTIC ATROPHY #530000 KEARNS-SAYRE SYNDROME; KSS #520100 DIARRHEA, CHRONIC, WITH VILLOUS ATROPHY #520000 DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED #515000 CHLORAMPHENICOL TOXICITY CHLORAMPHENICOL RESISTANCE, INCLUDED #502500 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL #502000 AGING #500007 CYCLIC VOMITING SYNDROME; CVS CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE, INCLUDED #500005 HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA, MITOCHONDRIAL #500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME #500003 STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL #500002 MITOCHONDRIAL MYOPATHY WITH DIABETES #500001 LEBER OPTIC ATROPHY AND DYSTONIA #500000 CARDIOMYOPATHY, INFANTILE HISTIOCYTOID 489000 UBIQUITIN-ACTIVATING ENZYME, Y-LINKED %475000 GROWTH CONTROL, Y-CHROMOSOME INFLUENCED; GCY Gene map locus Yq12 425500 HAIRY EARS, Y-LINKED Gene map locus Yq %424500 GONADOBLASTOMA; GBY #415000 SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED AZOOSPERMIA FACTOR REGIONS, INCLUDED Gene map locus Yq11.2 %400043 DEAFNESS, Y-LINKED 1; DFNY1 Gene map locus Chr.Y #400042 SERTOLI CELL-ONLY SYNDROME, Y-LINKED SERTOLI CELL-ONLY SYNDROME, TYPE II, INCLUDED Gene map locus 3q21 %400021 HODGKIN DISEASE, Y-LINKED PSEUDOAUTOSOMAL %400004 RETINITIS PIGMENTOSA, Y-LINKED Gene map locus Chr.Y 315000 ZONULAR CATARACT AND NYSTAGMUS 314960 XP40 314940 XP37 314920 XP24 %314900 XM SYSTEM Gene map locus Xq28 314800 XH ANTIGEN %314705 XG REGULATOR; XGR Gene map locus Xp22.32 314600 WILDERVANCK SYNDROME %314580 WIEACKER SYNDROME Gene map locus Xq13-q21 314570 WIDOW'S PEAK SYNDROME 314560 VON WILLEBRAND DISEASE, X-LINKED FORM 314550 VESICOURETERAL REFLUX, X-LINKED; VURX %314500 VAN DEN BOSCH SYNDROME %314400 CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1 Gene map locus Xq28 #314390 VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED Gene map locus Xp22.31 %314380 UNIQUE GREEN PHENOMENON 314360 ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET 314350 TYROSINE AMINOTRANSFERASE, REGULATOR OF 314320 TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY %314300 TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR Gene map locus Xq28 #314250 DYSTONIA 3, TORSION, X-LINKED; DYT3 Gene map locus Xq13 314240 TOOTH SIZE 314100 THUMBS, CONGENITAL CLASPED #314050 THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS 314000 THROMBOCYTOPENIA WITH ELEVATED SERUM IgA AND RENAL DISEASE #313900 THROMBOCYTOPENIA 1; THC1 THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, INCLUDED Gene map locus Xp11.23-p11.22 %313850 THORACOABDOMINAL SYNDROME; THAS MIDLINE DEFECTS, X-LINKED, INCLUDED Gene map locus Xq25-q26.1 313550 TEETH, BURIED 313500 TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1 313490 TAURODONTISM, MICRODONTIA, AND DENS INVAGINATUS 313480 TaqI POLYMORPHISM; TAQ1 %313420 SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED #313400 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT Gene map locus Xp22.2-p22.1 %313350 SPLIT-HAND/FOOT MALFORMATION 2; SHFM2 Gene map locus Xq26 #313200 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Gene map locus Xq11-q12 %313000 SPATIAL VISUALIZATION, APTITUDE FOR TURNER SYNDROME-ASSOCIATED NEUROCOGNITIVE PHENOTYPE, INCLUDED Gene map locus Xp22.33 #312920 SPASTIC PARAPLEGIA 2, X-LINKED; SPG2 Gene map locus Xq22 312910 SPASTIC PARAPARESIS AND DEAFNESS #312870 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 Gene map locus Xq26 #312863 COMBINED IMMUNODEFICIENCY, X-LINKED; CIDX Gene map locus Xq13 312860 SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION 312840 SCHIMKE X-LINKED MENTAL RETARDATION SYNDROME 312830 SCARF SYNDROME 312780 RUSSELL-SILVER SYNDROME, X-LINKED #312750 RETT SYNDROME; RTT RETT SYNDROME, PRESERVED SPEECH VARIANT, INCLUDED Gene map locus Xq28, Xp22 %312612 RETINITIS PIGMENTOSA 6; RP6 Gene map locus Xp21.3-p21.2 312550 RETINAL DYSPLASIA, PRIMARY; PRD 312530 RETINAL DETACHMENT %312500 RETICULOENDOTHELIOSIS, X-LINKED #312300 REIFENSTEIN SYNDROME 312210 RADIATION SENSITIVITY OF NATURAL KILLER ACTIVITY 312200 RADIAL LOOP, PLAIN, ON RIGHT INDEX FINGER 312190 RADIAL APLASIA, X-LINKED #312170 PYRUVATE DECARBOXYLASE DEFICIENCY LACTIC ACIDEMIA, THIAMINE-RESPONSIVE, INCLUDED Gene map locus Xp22.2-p22.1 %312150 MULTIPLE PTERYGIUM SYNDROME, X-LINKED 312100 PSEUDOHERMAPHRODITISM, INCOMPLETE MALE, TYPE I #312080 PELIZAEUS-MERZBACHER DISEASE; PMD Gene map locus Xq22 #312060 PROPERDIN DEFICIENCY, X-LINKED PROPERDIN DEFICIENCY, TYPE II, INCLUDED Gene map locus Xp11.4-p11.23 312030 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN, X-LINKED; B1G2; SP1X #312000 PANHYPOPITUITARISM, X-LINKED; PHPX Gene map locus Xq27.2-q27.3, Xq26.3 %311900 TARP SYNDROME; TARPS Gene map locus Xp11.23-q13.3 311895 PIERRE ROBIN SEQUENCE WITH FACIAL AND DIGITAL ANOMALIES %311510 PARKINSONISM, EARLY-ONSET, WITH MENTAL RETARDATION Gene map locus Xq28 311450 PALLISTER W SYNDROME 311400 PAINE SYNDROME SEEMANOVA SYNDROME I, INCLUDED #311360 PREMATURE OVARIAN FAILURE 1; POF1 Gene map locus Xq26-q28 311350 OUABAIN RESISTANCE; OUBR #311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 Gene map locus Xq28 311280 OSTEOPATHIA STRIATA WITH PIGMENTARY DERMOPATHY INCLUDING WHITE FORELOCK #311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO VALPROATE SENSITIVITY, INCLUDED Gene map locus Xp21.1 #311200 OROFACIODIGITAL SYNDROME I; OFD1 Gene map locus Xp22.3-p22.2 #311150 OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA Gene map locus Xq22 311100 OPTIC ATROPHY--SPASTIC PARAPLEGIA SYNDROME #311070 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5 Gene map locus Xq22-q24 %311050 OPTIC ATROPHY 2; OPA2 Gene map locus Xp11.4-p11.21 %311000 OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA; OPEM 310980 OMPHALOCELE 310900 OCCIPITAL HAIR, WHITE LOCK OF 310800 NYSTAGMUS, MYOCLONIC #310700 NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1 Gene map locus Xq26.2, Xq26-q27 310650 NUCLEAR RIBONUCLEIC ACID; nRNA #310600 NORRIE DISEASE; ND Gene map locus Xp11.4 #310500 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A NYCTALOPIA, INCLUDED Gene map locus Xp11.4 %310490 COWCHOCK SYNDROME Gene map locus Xq24-q26.1 310470 NEUROPATHY, HEREDITARY SENSORY, X-LINKED #310468 NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN Gene map locus Xp11.22 310465 N SYNDROME; NSX Gene map locus Xp22.3-p21.1 %310460 MYOPIA 1; MYP1 BORNHOLM EYE DISEASE, INCLUDED; BED, INCLUDED Gene map locus Xq28 %310440 MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX Gene map locus Xq28 #310400 MYOTUBULAR MYOPATHY 1; MTM1 Gene map locus Xq28 310370 MYOCLONIC EPILEPSY, PROGRESSIVE 310350 MYELOLYMPHATIC INSUFFICIENCY #310300 EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD Gene map locus Xq28 #310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD Gene map locus 12q21, Xp21.2 310095 MUSCULAR DYSTROPHY, PROGRESSIVE PECTORODORSAL 310000 MUSCULAR DYSTROPHY, MABRY TYPE 309950 MUSCULAR DYSTROPHY, HEMIZYGOUS LETHAL TYPE 309930 MUSCULAR DYSTROPHY, CARDIAC TYPE 309840 MODIFIER, X-LINKED, FOR NEUROFUNCTIONAL DEFECTS #309801 MICROPHTHALMIA, SYNDROMIC 7; MCOPS7 Gene map locus Xp22 %309800 MICROPHTHALMIA, SYNDROMIC 1; MCOPS1 Gene map locus Xq27-q28 309700 MOVED TO 310600 309645 METAPHYSEAL ANADYSPLASIA 309640 MENTAL RETARDATION WITH SPASTIC PARAPLEGIA %309630 METACARPAL 4-5 FUSION; MF4 %309620 MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD Gene map locus Xq28 %309610 PRIETO X-LINKED MENTAL RETARDATION SYNDROME; PRS Gene map locus Xp11-q21 %309605 MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME; MCS Gene map locus Xq13-q22 %309585 WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS Gene map locus Xp21.1-q22 #309583 MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE Gene map locus Xp22.1 #309580 MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Gene map locus Xq13 309560 MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS %309555 MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES Gene map locus Xq26 #309549 MENTAL RETARDATION, X-LINKED 9; MRX9 Gene map locus Xp11.23 %309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12; MRXS12 Gene map locus Xp11 %309541 MENTAL RETARDATION, X-LINKED 3; MRX3 Gene map locus Xq28 %309530 MENTAL RETARDATION, X-LINKED 1; MRX1 Gene map locus Xp11.3-q21.1 #309520 LUJAN-FRYNS SYNDROME #309510 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS Gene map locus Xp22.13 #309500 RENPENNING SYNDROME 1; RENS1 Gene map locus Xp11.23 309480 MENTAL RETARDATION ASSOCIATED WITH PSORIASIS #309400 MENKES DISEASE Gene map locus Xq12-q13 #309350 MELNICK-NEEDLES SYNDROME; MNS Gene map locus Xq28 %309300 MEGALOCORNEA; MGC1 Gene map locus Xq21.3-q22 %309200 MAJOR AFFECTIVE DISORDER 2; MAFD2 Gene map locus Xq28 %309150 MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE; TDD 309120 MALE INFERTILITY FROM DEFECT IN MEIOSIS %309100 MACULAR DYSTROPHY, X-LINKED 309050 LUTHERAN SUPPRESSOR, X-LINKED; XS Gene map locus Xp21.2-q21.1 #309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL Gene map locus Xq26.1 #308990 PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS Gene map locus Xp11.22 308960 LEUKEMIA, ACUTE, ?X-LINKED 308950 LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT #308940 LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH NEPHROPATHY Gene map locus Xq22.3 #308930 LEIGH SYNDROME, X-LINKED Gene map locus Xp22.2-p22.1 %308905 LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO Gene map locus Xp11 308850 LARYNGEAL ABDUCTOR PARALYSIS 308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY #308800 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS; KFSD Gene map locus Xp22.1 308750 KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA 308600 JAUNDICE, FAMILIAL OBSTRUCTIVE, OF INFANCY 308500 IRIS HYPOPLASIA WITH GLAUCOMA; IHG #308370 INFERTILE MALE SYNDROME #308350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 INFANTILE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY, INCLUDED Gene map locus Xp22, Xp22.13 #308300 INCONTINENTIA PIGMENTI; IP Gene map locus Xq28 308290 IMPRINTING GENE RELATED TO RETINOBLASTOMA 308280 IMPACTED TEETH, MULTIPLE %308250 IMMUNOGLOBULIN M, LEVEL OF #308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1 Gene map locus Xq25 #308230 IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1; HIGM1 Gene map locus Xq26 308220 IMMUNODEFICIENCY, X-LINKED, WITH DEFICIENCY OF 115,000 DALTON SURFACE GLYCOPROTEIN %308205 ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA SYNDROME 308200 ICHTHYOSIS AND MALE HYPOGONADISM RUD SYNDROME, INCLUDED #308050 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS Gene map locus Xq28 307830 HYPOURICEMIA, FAMILIAL RENAL, DUE TO TUBULAR HYPERSECRETION #307800 HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT Gene map locus Xp22.2-p22.1 %307700 HYPOPARATHYROIDISM, X-LINKED; HYPX Gene map locus Xq26-q27 307500 HYPOGONADISM, MALE, WITH MENTAL RETARDATION AND SKELETAL ANOMALIES 307300 HYPOGONADISM, MALE #307200 HYPOGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY, X-LINKED Gene map locus Xq21.3-q22 %307150 HYPERTRICHOSIS, CONGENITAL GENERALIZED; HTC2 Gene map locus Xq24-q27.1 #307030 HYPERGLYCEROLEMIA Gene map locus Xp21.3-p21.2 307010 HYDROCEPHALUS WITH CEREBELLAR AGENESIS #307000 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS HYDROCEPHALUS, X-LINKED, WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, INCLUDED Gene map locus Xq28 306995 HOMOSEXUALITY 1; HMS1 Gene map locus Xq28 306990 HOLOPROSENCEPHALY WITH FETAL AKINESIA/HYPOKINESIA SEQUENCE 306980 HIRSCHSPRUNG DISEASE WITH TYPE D BRACHYDACTYLY 306970 H-Y REGULATOR; HYR Gene map locus Xp22.3 306960 HHHH SYNDROME #306955 HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 CONGENITAL HEART DEFECTS, X-LINKED, INCLUDED Gene map locus Xq26.2 306950 HERNIA, ANTERIOR DIAPHRAGMATIC 306930 HEMOPOIETIC PROLIFERATION 306800 HEMOPHILIA A WITH VASCULAR ABNORMALITY 306500 GYNECOMASTIA, FAMILIAL #306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGD CYTOCHROME b-POSITIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, INCLUDED Gene map locus Xp21.1 306300 GRANULOMAS, CONGENITAL CEREBRAL 305920 GLUTAMYL RIBOSE-5-PHOSPHATE STORAGE DISEASE 305800 MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, X-LINKED 305700 SERTOLI CELL-ONLY SYNDROME 305690 GENITOURINARY TRACT ANOMALIES 305645 FRONTONASAL DYSPLASIA #305620 FRONTOMETAPHYSEAL DYSPLASIA; FMD #305600 FOCAL DERMAL HYPOPLASIA; FDH Gene map locus Xp11.23 305550 FINGERPRINT BODY MYOPATHY #305450 OPITZ-KAVEGGIA SYNDROME; OKS Gene map locus Xq12-q21.31 %305435 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3; HBFQTL3 HETEROCELLULAR HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, SWISS TYPE, INCLUDED Gene map locus Xp22.2 #305400 FACIOGENITAL DYSPLASIA FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER, INCLUDED Gene map locus Xp11.21 #305390 EXUDATIVE VITREORETINOPATHY, FAMILIAL, X-LINKED RECESSIVE; EVR2 Gene map locus Xp11.4 305350 EPIDERMODYSPLASIA VERRUCIFORMIS, X-LINKED; EDVX; EDV2 305300 ENDOCARDIAL FIBROELASTOSIS %305200 EHLERS-DANLOS SYNDROME, TYPE V #305100 ECTODERMAL DYSPLASIA 1; ED1 Gene map locus Xq12-q13.1 #305000 DYSKERATOSIS CONGENITA, X-LINKED; DKC Gene map locus Xq28 304950 DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED 304900 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE #304800 DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED Gene map locus Xq28 #304790 IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX ISLETS OF LANGERHANS, ABSENCE OF, INCLUDED Gene map locus Xp11.23-q13.3 %304730 DERMOIDS OF CORNEA; CND Gene map locus Xq24-qter #304700 MOHR-TRANEBJAERG SYNDROME; MTS Gene map locus Xq22 %304590 DEAFNESS, HIGH-FREQUENCY SENSORINEURAL, X-LINKED %304500 DEAFNESS, X-LINKED 1; DFNX1 Gene map locus Xq22 #304400 DEAFNESS, X-LINKED 2; DFNX2 PERILYMPHATIC GUSHER DURING STAPES SURGERY, INCLUDED Gene map locus Xq21.1 304350 DEAFNESS-HYPOGONADISM SYNDROME; DHS %304340 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES Gene map locus Xq25-q27 304300 CYANIDE, INABILITY TO SMELL 304200 CUTIS VERTICIS GYRATA, THYROID APLASIA, AND MENTAL RETARDATION #304150 CUTIS LAXA, X-LINKED Gene map locus Xq12-q13 #304120 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2 Gene map locus Xq28 #304110 CRANIOFRONTONASAL SYNDROME; CFNS Gene map locus Xq12 #304100 CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED Gene map locus Xq28 %304050 AICARDI SYNDROME; AIC Gene map locus Xp22 304030 CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN #304020 CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 CONE DYSTROPHY, X-LINKED, 1; COD1 Gene map locus Xp21.1 304000 COLORBLINDNESS, PARTIAL TRITANOMALY %303700 COLORBLINDNESS, BLUE-MONO-CONE-MONOCHROMATIC TYPE; CBBM RED AND GREEN PIGMENT GENES, CONTROLLER OF, INCLUDED Gene map locus Xq28, Xq28 303650 COLONIC ATRESIA #303600 COFFIN-LOWRY SYNDROME; CLS Gene map locus Xp22.2-p22.1 #303400 CLEFT PALATE, X-LINKED; CPX CLEFT PALATE WITH ANKYLOGLOSSIA, INCLUDED Gene map locus Xq12-q21 #303350 MASA SYNDROME Gene map locus Xq28 303110 CHOROIDEREMIA WITH DEAFNESS AND OBESITY #303100 CHOROIDEREMIA; CHM CHOROIDAL SCLEROSIS, INCLUDED Gene map locus Xq21.2 #302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2 Gene map locus Xp11.23-p11.22 #302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Gene map locus Xp22.3 302905 CHARGE-LIKE SYNDROME, X-LINKED 302900 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA, COMBINED 302803 CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED, WITH APLASIA CUTIS CONGENITA %302802 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3 Gene map locus Xq26 %302801 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2 Gene map locus Xp22.2 #302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1 Gene map locus Xq13.1 302700 CEREBRAL SCLEROSIS, DIFFUSE, SCHOLZ TYPE 302600 SPINOCEREBELLAR ATAXIA, X-LINKED 2 %302500 SPINOCEREBELLAR ATAXIA, X-LINKED 1; SCAX1 Gene map locus Xp11.21-q21.3 302400 CENTRAL INCISORS, ABSENCE OF 302380 CATEL-MANZKE SYNDROME #302350 NANCE-HORAN SYNDROME; NHS Gene map locus Xp22.13 302300 MICROPHTHALMIA, ISOLATED, WITH CATARACT 3; MCOPCT3 #302060 BARTH SYNDROME; BTHS Gene map locus Xq28 #302045 CARDIOMYOPATHY, DILATED, 3B; CMD3B Gene map locus Xp21.2 302030 CALVARIAL HYPEROSTOSIS %302000 BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE Gene map locus Xq27.3-qter 301950 BRANCHIAL ARCH SYNDROME, X-LINKED 301940 BRACHYDACTYLY, MONONEN TYPE #301900 BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS Gene map locus Xq26.3 301850 TUBULIN, BETA %301845 BAZEX SYNDROME; BZX Gene map locus Xq24-q27 301840 SPINOCEREBELLAR ATAXIA, X-LINKED 4 #301835 ARTS SYNDROME; ARTS Gene map locus Xq22-q24, Xq21.2-q24 #301830 SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2 Gene map locus Xp11.23 301815 ARTHROGRYPOSIS, ECTODERMAL DYSPLASIA, CLEFT LIP/PALATE, AND DEVELOPMENTAL DELAY 301800 ANUS, IMPERFORATE 301790 SPINOCEREBELLAR ATAXIA, X-LINKED 3 301700 ANOSMIA %301590 MICROPHTHALMIA, SYNDROMIC 4; MCOPS4 Gene map locus Xq27-q28 #301500 FABRY DISEASE FABRY DISEASE, CARDIAC VARIANT, INCLUDED Gene map locus Xq22 301410 NEURAL TUBE DEFECTS, X-LINKED SPINA BIFIDA, X-LINKED, INCLUDED #301310 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT Gene map locus Xq13.1-q13.3 %301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS; PDR Gene map locus Xp22-p21 %301201 AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2 Gene map locus Xq22-q28 #301200 AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH, INCLUDED Gene map locus Xp22.3-p22.1 301090 TETRA-AMELIA, X-LINKED #301050 ALPORT SYNDROME, X-LINKED; ATS ALPORT SYNDROME-LIKE HEREDITARY NEPHRITIS, INCLUDED; ASLHN, INCLUDED; ASLN, INCLUDED Gene map locus Xq22.3 #301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED; ATRX Gene map locus Xq13 #301000 WISKOTT-ALDRICH SYNDROME; WAS Gene map locus Xp11.23-p11.22 %300719 DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES Gene map locus Chr.X #300718 MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET Gene map locus Xq27.2 #300717 MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE Gene map locus Xq27.2 #300716 MENTAL RETARDATION, X-LINKED 95; MRX95 Gene map locus Xq13.1-q13.2 %300712 CRANIOFACIOSKELETAL SYNDROME Gene map locus Xq26-q27 %300711 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 4; IHPS4 Gene map locus Xq23 %300710 ALOPECIA, ANDROGENETIC, 2; AGA2 Gene map locus Xq11-q12 %300709 MENTAL RETARDATION, X-LINKED, SYNDROMIC 9; MRXS9 Gene map locus MRXS9 #300707 TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS; STAR Gene map locus Xq28 #300706 MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE Gene map locus Xp11.2 #300705 MENTAL RETARDATION, X-LINKED 17; MRX17 Gene map locus Xp11.2 %300704 PROSTATE CANCER, HEREDITARY, X-LINKED 2; HPCX2 Gene map locus Xp11.22 %300703 SPINOCEREBELLAR ATAXIA, X-LINKED 5; SCAX5 Gene map locus Xq25-q27.1 %300700 ALBINISM-DEAFNESS SYNDROME; ADFN Gene map locus Xq26.3-q27.1 #300699 MENTAL RETARDATION, X-LINKED 94; MRX94 Gene map locus Xq25-q26 #300696 MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA Gene map locus Xq27.2 #300695 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT Gene map locus Xq27.2 #300676 MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 Gene map locus Xq25-q26 #300673 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS Gene map locus Xq28 #300672 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 #300661 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY GOUT, PRPS-RELATED, INCLUDED Gene map locus Xq22-q24 %300660 LEUKOENCEPHALOPATHY WITH METAPHYSEAL CHONDRODYSPLASIA #300659 MENTAL RETARDATION, X-LINKED 93; MRX93 Gene map locus Xq13 #300653 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Gene map locus Xq13 %300652 ANGIOMA SERPIGINOSUM, X-LINKED Gene map locus Xp11.3-q12 300650 ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS; OASD Gene map locus Xp22.3 %300645 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2 Gene map locus Xp21.2-q26.3 #300643 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX #300640 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2; IPD2 #300639 MENTAL RETARDATION, X-LINKED, WITH BRACHYDACTYLY AND MACROGLOSSIA Gene map locus Xq23 #300636 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1; AMCBX1 Gene map locus Xq28 #300635 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2 Gene map locus Xq25 #300633 HYPOSPADIAS, X-LINKED Gene map locus Xq28, Xq11-q12 #300630 MENTAL RETARDATION, X-LINKED 59; MRX59 Gene map locus Xp22 #300624 FRAGILE X MENTAL RETARDATION SYNDROME Gene map locus Xq27.3 #300623 FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS Gene map locus Xq27.3 #300622 TN SYNDROME Gene map locus Xq23 %300619 CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION #300615 BRUNNER SYNDROME %300614 DEAFNESS, X-LINKED 5; DFNX5 Gene map locus Xq23-q27.3 %300613 MYOPIA 13 %300612 BROOKS-WISNIEWSKI-BROWN SYNDROME #300607 HYPEREKPLEXIA AND EPILEPSY Gene map locus Xq22.1 #300606 HYPODONTIA, X-LINKED Gene map locus Xq12-q13.1 %300605 RETINITIS PIGMENTOSA 34 Gene map locus Xq28 #300604 PREMATURE OVARIAN FAILURE 2B; POF2B Gene map locus Xq21 300602 CLARK-BARAITSER SYNDROME #300600 ALAND ISLAND EYE DISEASE; AIED Gene map locus Xp11.23 %300591 STATURE QUANTITATIVE TRAIT LOCUS 6 Gene map locus Xq24-q25 #300590 CORNELIA DE LANGE SYNDROME 2; CDLS2 Gene map locus Xp11.22-p11.21 %300589 NYSTAGMUS 5, INFANTILE PERIODIC ALTERNATING; NYS5 Gene map locus Chr.X #300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA Gene map locus Xq28 #300582 SHORT STATURE, IDIOPATHIC, X-LINKED; ISS Gene map locus Xpter-p22.32 %300581 FG SYNDROME 5; FGS5 Gene map locus Xq22.3 %300580 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION 2, X-LINKED; CFTD2 Gene map locus Xq13.1-q22.1 #300578 CHROMOSOME Xp11.3 DELETION SYNDROME Gene map locus Xp11.3 #300577 MENTAL RETARDATION, X-LINKED 91; MRX91 Gene map locus Xq13.3 300571 HOLOPROSENCEPHALY, ECTRODACTYLY, AND BILATERAL CLEFT LIP/PALATE #300559 MUSCLE GLYCOGENOSIS, X-LINKED Gene map locus Xq13 #300558 MENTAL RETARDATION, X-LINKED 30; MRX30 Gene map locus Xq21.3-q24 %300557 PARKINSON DISEASE 12 Gene map locus Xq21-q25 #300555 DENT DISEASE 2 #300554 HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE Gene map locus Xp11.22 %300551 MENTAL RETARDATION, X-LINKED 78; MRX78 Gene map locus Xp11.4-p11.23 #300539 NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD Gene map locus Xq28 #300537 HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT Gene map locus Xq28 %300536 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 4; BMND4 Gene map locus Xq27 #300534 MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED Gene map locus Xp11.22-p11.21 #300523 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS Gene map locus Xq13.2 %300519 MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME Gene map locus Xq11-q21 %300518 MENTAL RETARDATION, X-LINKED 82; MRX82 Gene map locus Xq24-q25 #300514 FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB Gene map locus Xp22.31 #300511 PREMATURE OVARIAN FAILURE 2A; POF2A Gene map locus Xq22 #300510 OVARIAN DYSGENESIS 2; ODG2 PREMATURE OVARIAN FAILURE 4, INCLUDED; POF4, INCLUDED Gene map locus Xp11.2 %300509 DYSLEXIA, SUSCEPTIBILITY TO, 9; DYX9 Gene map locus Xq27.3 %300505 MENTAL RETARDATION, X-LINKED 84; MRX84 Gene map locus Xp11.3-q22.3 %300504 MENTAL RETARDATION, X-LINKED 52; MRX52 Gene map locus Xp11.21-q22.3 #300498 MENTAL RETARDATION, X-LINKED 45; MRX45 Gene map locus Xp22.1-p11 #300497 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 Gene map locus Xp22.33 #300496 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 Gene map locus Xq28 #300495 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2 MENTAL RETARDATION, X-LINKED, INCLUDED Gene map locus Xp22.33 #300494 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 Gene map locus Xq13 #300491 EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS Gene map locus Xp11.4-p11.2 %300489 SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX3 Gene map locus Xq13.1-q21 %300488 MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 1; MENOQ1 Gene map locus Xp21.3 #300486 MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE Gene map locus Xq12 %300484 OROFACIODIGITAL SYNDROME VIII; OFD8 #300476 CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3 Gene map locus Xp11.23, Xp11.4-q13.1 #300475 CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME #300472 CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA Gene map locus Xq13.1-q13.3 %300464 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 3 Gene map locus Xq23-q26 #300455 RETINITIS PIGMENTOSA, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS RETINITIS PIGMENTOSA, X-LINKED, WITH DEAFNESS AND SINORESPIRATORY INFECTIONS, INCLUDED Gene map locus Xp21.1 %300454 MENTAL RETARDATION, X-LINKED 77; MRX77 Gene map locus Xq12-q21.3 #300448 ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS Gene map locus Xq13 #300438 HYDROXYACYL-CoA DEHYDROGENASE II DEFICIENCY Gene map locus Xp11.2 #300436 MENTAL RETARDATION, X-LINKED 46; MRX46 Gene map locus Xq26 #300434 STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME Gene map locus Xp11.2 %300433 MENTAL RETARDATION, X-LINKED 81; MRX81 Gene map locus Xp11.2-q12 #300432 EPILEPSY, MYOCLONIC, X-LINKED, WITH MENTAL RETARDATION AND SPASTICITY Gene map locus Xp22.13 300431 ATKIN-FLAITZ SYNDROME %300428 MENTAL RETARDATION, X-LINKED 2; MRX2 Gene map locus Xp22.3 #300425 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 AUTSX1 Gene map locus Xq13 %300424 RETINITIS PIGMENTOSA 23; RP23 Gene map locus Xp22 #300423 MENTAL RETARDATION, X-LINKED, WITH EPILEPSY; XMRE Gene map locus Xp11.4 %300422 FG SYNDROME 4; FGS4 Gene map locus Xp11.4-p11.3 %300421 WITTWER SYNDROME #300419 MENTAL RETARDATION, X-LINKED 54; MRX54 Gene map locus Xp22.13 %300406 FG SYNDROME 3; FGS3 Gene map locus Xp22.3 300404 BRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS, HIRSCHSPRUNG DISEASE, EAR/EYE ANOMALIES, CLEFT PALATE/CRYPTORCHIDISM, AND KIDNEY DYSPLASIA/HYPOPLASIA Gene map locus Chr.X #300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1 Gene map locus Xq13 #300389 RETINITIS PIGMENTOSA 3; RP3 Gene map locus Xp21.1 #300388 POLYMICROGYRIA, BILATERAL PERISYLVIAN; BPP Gene map locus Xq28 #300387 MENTAL RETARDATION, X-LINKED 63; MRX63 Gene map locus Xq22.3 #300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD Gene map locus Xp21.2 %300373 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS Gene map locus Chr.X %300372 MENTAL RETARDATION, X-LINKED 42; MRX42 Gene map locus Xq26 #300367 DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA MACROTHROMBOCYTOPENIA, X-LINKED, INCLUDED Gene map locus Xp11.23 %300360 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE Gene map locus Xq24 %300355 MENTAL RETARDATION, X-LINKED 73; MRX73 #300354 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, SMALL TESTES, MUSCLE WASTING, AND TREMOR Gene map locus Xq23 #300352 CREATINE DEFICIENCY SYNDROME, X-LINKED Gene map locus Xq28 %300351 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 1 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 2, INCLUDED; GRDX2, INCLUDED Gene map locus Xp11 %300345 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 1; MCOPCB1 Gene map locus Chr.X %300324 MENTAL RETARDATION, X-LINKED 53; MRX53 Gene map locus Xq22.2-q26 #300323 GOUT, HPRT-RELATED Gene map locus Xq26-q27.2 #300322 LESCH-NYHAN SYNDROME; LNS HPRT DEFICIENCY, NEUROLOGIC VARIANT, INCLUDED Gene map locus Xq26-q27.2 %300321 FG SYNDROME 2; FGS2 Gene map locus Xq28 %300310 AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2; AGMX2 Gene map locus Xp22 #300306 OBESITY, SUSCEPTIBILITY TO, X-LINKED Gene map locus Xq23-q24 #300301 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA; OLEDAID Gene map locus Xq28 #300299 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; XLN Gene map locus Xp11.23-p11.22 #300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY, INCLUDED Gene map locus Xq28 300290 INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES Gene map locus Chr.X 300280 URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME 300274 ANDROGEN INSENSITIVITY SYNDROME DUE TO COACTIVATOR DEFICIENCY %300273 GOITER, MULTINODULAR 2; MNG2 Gene map locus Xp22 %300271 MENTAL RETARDATION, X-LINKED 72; MRX72 Gene map locus Xq28 300270 ADRENOMYODYSTROPHY %300266 SPASTIC PARAPLEGIA 16, X-LINKED; SPG16 Gene map locus Xq11.2 #300263 SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME Gene map locus Xp11.2 %300262 ABIDI X-LINKED MENTAL RETARDATION SYNDROME Gene map locus Xq13.2 %300261 ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME Gene map locus Xq28 #300260 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL Gene map locus Xq28, Xq28 300259 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED 300258 ROIFMAN SYNDROME Gene map locus Chr.X #300257 DANON DISEASE Gene map locus Xq24 %300250 ADRENAL UNRESPONSIVENESS TO ACTH %300245 PTOSIS, HEREDITARY CONGENITAL 2 Gene map locus Xq24-q27.1 %300244 TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS Gene map locus Xq27.3-q28 #300243 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE Gene map locus Xq26.3, Xq24-q27.3 #300240 HOYERAAL-HREIDARSSON SYNDROME; HHS Gene map locus Xq28 %300238 MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11 Gene map locus Xq26-q27 300233 RADIOULNAR SYNOSTOSIS, RADIAL RAY ABNORMALITIES, AND SEVERE MALFORMATIONS IN THE MALE 300232 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH MENTAL DETERIORATION %300228 TESTICULAR GERM CELL TUMOR 1 Gene map locus Xq27 %300221 HODGKIN DISEASE, X-LINKED PSEUDOAUTOSOMAL Gene map locus Xpter-p22.32 #300220 MENTAL RETARDATION, X-LINKED, SYNDROMIC 10; MRXS10 Gene map locus Xp11.2, Xp11.2 #300219 MYOTUBULAR MYOPATHY WITH ABNORMAL GENITAL DEVELOPMENT %300218 MENTAL RETARDATION, X-LINKED, SYNDROMIC 7; MRXS7 Gene map locus Xp11.3-q22 300216 COATS DISEASE #300215 LISSENCEPHALY, X-LINKED, 2; LISX2 HYDRANENCEPHALY AND ABNORMAL GENITALIA, INCLUDED Gene map locus Xp22.13 %300211 EPISODIC MUSCLE WEAKNESS, X-LINKED; EMWX Gene map locus Xp22.3 #300210 MENTAL RETARDATION, X-LINKED 58; MRX58 Gene map locus Xq11 #300209 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 Gene map locus Xp22, Xp22.3-p22.2 #300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC ADRENAL HYPOPLASIA, CONGENITAL, WITH PRECOCIOUS PUBERTY, INCLUDED Gene map locus Xp21.3-p21.2 %300195 ALPORT SYNDROME, MENTAL RETARDATION, MIDFACE HYPOPLASIA, AND ELLIPTOCYTOSIS CHROMOSOMAL REGION GENE 1; AMMECR1 Gene map locus Xq22.3 #300194 AMME COMPLEX Gene map locus Xq22.3 300184 HYPOTONIA, CONGENITAL NYSTAGMUS, ATAXIA, AND ABNORMAL AUDITORY BRAINSTEM RESPONSES #300183 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, X-LINKED; LVNCX Gene map locus Xq28 %300179 X INACTIVATION, FAMILIAL SKEWED, 2 Gene map locus Xq25-q26 #300166 MICROPHTHALMIA, SYNDROMIC 2; MCOPS2 Gene map locus Xp11.4 %300158 ARTHROGRYPOSIS, X-LINKED, TYPE V; AMCX5 %300155 RETINITIS PIGMENTOSA 24; RP24 Gene map locus Xq26-q27 %300148 MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY; MEHMO Gene map locus Xp22.13-p21.1 %300147 PROSTATE CANCER, HEREDITARY, X-LINKED 1; HPCX1 Gene map locus Xq27-q28 #300143 MENTAL RETARDATION, X-LINKED 21; MRX21 Gene map locus Xp22.1-p21.3 %300136 DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO Gene map locus Xp11 300129 HEMATOPOIETIC STEM CELL KINETICS, CONTROL OF %300125 MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2 Gene map locus Xq #300123 MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY, INCLUDED; MRGH, INCLUDED Gene map locus Xq26.3 %300115 MENTAL RETARDATION, X-LINKED 50; MRX50 Gene map locus Xp11.3-p11.21 %300114 MENTAL RETARDATION, X-LINKED 49; MRX49 Gene map locus Xp22.3 300106 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED #300100 ADRENOLEUKODYSTROPHY; ALD Gene map locus Xq28 #300088 EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION; EFMR Gene map locus Xq22 #300087 X INACTIVATION, FAMILIAL SKEWED, 1; SXI1 Gene map locus Xq13.2 %300085 CONE-ROD DYSTROPHY, X-LINKED, 2; CORDX2 Gene map locus Xq27 %300082 COGNITIVE FUNCTION 1, SOCIAL; CGF1 Gene map locus Xq %300077 MENTAL RETARDATION, X-LINKED 29; MRX29 Gene map locus Xp22.3-p21.3 %300076 IMMUNONEUROLOGIC DISORDER, X-LINKED Gene map locus Xq26-qter 300073 FETAL AKINESIA SYNDROME, X-LINKED #300071 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A; CSNB2A Gene map locus Xp11.23 #300069 CARDIOMYOPATHY, DILATED, 3A; CMD3A Gene map locus Xq28 #300068 ANDROGEN INSENSITIVITY SYNDROME; AIS Gene map locus Xq11-q12 #300067 LISSENCEPHALY, X-LINKED, 1; LISX1 SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED; SCLH, INCLUDED Gene map locus Xq22.3-q23 %300066 DEAFNESS, X-LINKED 4; DFNX4 Gene map locus Xp22 300064 MENTAL RETARDATION, X-LINKED, WITH CRANIOFACIAL DYSMORPHISM 300062 MENTAL RETARDATION, X-LINKED 14; MRX14 Gene map locus Xp11.3-q13.3 #300055 MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13 MENTAL RETARDATION, X-LINKED 79; MRX79 Gene map locus Xq28 300054 BODY LENGTH, MOUSE, HUMAN HOMOLOG #300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA, INCLUDED Gene map locus Xq28 #300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Gene map locus Xq28 %300047 MENTAL RETARDATION, X-LINKED 20; MRX20 Gene map locus Xp11-q21 %300046 MENTAL RETARDATION, X-LINKED 23; MRX23 Gene map locus Xq23-q24 300042 ALOPECIA, CONGENITAL #300031 FRAGILE SITE F, X-LINKED; FRAXF %300030 DEAFNESS, X-LINKED 3; DFNX3 Gene map locus Xp21.2 #300029 RETINITIS PIGMENTOSA 15; RP15 Gene map locus Xp21.1 #300018 DOSAGE-SENSITIVE SEX REVERSAL; DSS Gene map locus Xp21.3-p21.2 #300009 DENT DISEASE 1 Gene map locus Xq26.1, Xp11.22 #300004 CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA Gene map locus Xp22.13 %300001 ICHTHYOSIS, X-LINKED, WITHOUT STEROID SULFATASE DEFICIENCY #300000 OPITZ SYNDROME Gene map locus Xp22 280000 ZUNICH NEUROECTODERMAL SYNDROME 279000 YOUNG SYNDROME 278900 XYLOSIDASE DEFICIENCY 278850 XX MALE SYNDROME 278810 XERODERMA PIGMENTOSUM IX #278800 DE SANCTIS-CACCHIONE SYNDROME Gene map locus 10q11 #278780 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME, INCLUDED; XPG/CS, INCLUDED Gene map locus 13q33 #278760 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Gene map locus 16p13.3-p13.13 #278750 XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV Gene map locus 6p21.1-p12 #278740 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E Gene map locus 11p12-p11 #278730 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD TRICHOTHIODYSTROPHY WITH SUN SENSITIVITY, INCLUDED Gene map locus 19q13.2-q13.3 #278700 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA Gene map locus 9q22.3 #278400 ALBINISM, RUFOUS OCULOCUTANEOUS; ROCA Gene map locus 9p23 #278300 XANTHINURIA, TYPE I Gene map locus 2p23-p22 #278250 WRINKLY SKIN SYNDROME; WSS Gene map locus 12q24.3 278200 WOOLLY HAIR, HYPOTRICHOSIS, EVERTED LOWER LIP, AND OUTSTANDING EARS #278150 WOOLLY HAIR, AUTOSOMAL RECESSIVE Gene map locus 13q14.12-q14.2 278100 WOLMAN DISEASE WITH HYPOLIPOPROTEINEMIA AND ACANTHOCYTOSIS 277990 WOLFF MENTAL RETARDATION SYNDROME 277970 WISKOTT-ALDRICH SYNDROME #277950 WINCHESTER SYNDROME Gene map locus 16q13 #277900 WILSON DISEASE Gene map locus 13q14.3-q21.1 277740 WHITE FORELOCK WITH MALFORMATIONS %277730 WERNICKE-KORSAKOFF SYNDROME Gene map locus 3p14.3 277720 WHISTLING FACE SYNDROME, RECESSIVE FORM #277700 WERNER SYNDROME; WRN Gene map locus 8p12-p11.2 #277610 WEISSENBACHER-ZWEYMULLER SYNDROME; WZS Gene map locus 6p21.3 #277600 WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE Gene map locus 19p13.3-p13.2 #277590 WEAVER SYNDROME WEAVER-LIKE SYNDROME, INCLUDED Gene map locus 5q35 #277580 WAARDENBURG-SHAH SYNDROME Gene map locus 20q13.2-q13.3, 13q22, 22q13 #277480 VON WILLEBRAND DISEASE, RECESSIVE FORM %277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2 277465 VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION #277460 VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED Gene map locus 8q13.1-q13.3 #277450 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 CHONDRODYSPLASIA PUNCTATA WITH COAGULATION FACTOR DEFICIENCY, INCLUDED Gene map locus 2p12 #277440 VITAMIN D-DEPENDENT RICKETS, TYPE II VITAMIN D-DEPENDENT RICKETS, TYPE II, WITHOUT ALOPECIA, INCLUDED Gene map locus 12q12-q14 #277410 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE HOMOCYSTINURIA, cblD TYPE, VARIANT 1, INCLUDED Gene map locus 2q23.2 #277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE Gene map locus 1p34.1 %277380 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE %277350 VITAMIN A METABOLIC DEFECT %277320 VISCERAL MYOPATHY, FAMILIAL, WITH EXTERNAL OPHTHALMOPLEGIA #277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1 Gene map locus 19q13 277200 RIGHT VENTRICULAR HYPOPLASIA, ISOLATED #277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD Gene map locus 7q31.2 277175 VASCULAR HYALINOSIS %277170 VARADI-PAPP SYNDROME %277150 VAN BOGAERT-HOZAY SYNDROME %277100 VALINEMIA #277000 ROKITANSKY-KUSTER-HAUSER SYNDROME Gene map locus 1p35 #276950 VACTERL ASSOCIATION WITH HYDROCEPHALUS VATER ASSOCIATION WITH HYDROCEPHALUS, INCLUDED Gene map locus 10q23.31 %276905 USHER SYNDROME, TYPE IIB; USH2B Gene map locus 3p24.2-p23 #276904 USHER SYNDROME, TYPE IC; USH1C Gene map locus 11p15.1 #276902 USHER SYNDROME, TYPE III; USH3 Gene map locus 3q21-q25 #276901 USHER SYNDROME, TYPE IIA; USH2A Gene map locus 1q41 #276900 USHER SYNDROME, TYPE I USHER SYNDROME, TYPE IB, INCLUDED; USH1B, INCLUDED Gene map locus 11q13.5 276880 UROCANASE DEFICIENCY 276822 ULNAR AGENESIS AND ENDOCARDIAL FIBROELASTOSIS 276821 ULNAR HYPOPLASIA WITH MENTAL RETARDATION #276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY Gene map locus 3p25 276800 TYROSINOSIS #276710 TYROSINEMIA, TYPE III Gene map locus 12q24-qter 276410 TWINNING, MONOZYGOTIC %276400 TWINNING, DIZYGOTIC OVARIAN RESPONSE TO FSH STIMULATION, INCLUDED Gene map locus 2p21-p16 #276300 MISMATCH REPAIR CANCER SYNDROME Gene map locus 7p22, 3p21.3, 2p16, 2p22-p21 276200 T-SUBSTANCE ANOMALY %276100 TRYPTOPHANURIA WITH DWARFISM #275900 SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20 Gene map locus 13q12.3 #275630 CHANARIN-DORFMAN SYNDROME; CDS Gene map locus 3p21 275595 TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES OF THE HANDS AND FEET %275550 TRICHORRHEXIS NODOSA SYNDROME 275450 TRICHOODONTOONYCHIAL DYSPLASIA %275400 TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION OF RETINA %275370 TRICARBOXYLIC ACID CYCLE, DEFECT OF #275355 SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC Gene map locus 13q34, 8p22-p21 275300 TRACHEOBRONCHOMEGALY %275250 TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF 275240 TINEA IMBRICATA, SUSCEPTIBILITY TO 275230 TIBIA, ABSENCE OF, WITH CONGENITAL DEAFNESS 275220 TIBIAL HEMIMELIA Gene map locus 8q24.1 #275210 TIGHT SKIN CONTRACTURE SYNDROME, LETHAL Gene map locus 1p34 #275200 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 Gene map locus 14q31 275190 TIGLIC ACIDEMIA #275100 THYROTROPIN DEFICIENCY, ISOLATED THYROTROPIN, BIOLOGICALLY INACTIVE, INCLUDED #275000 GRAVES DISEASE GRD1, INCLUDED Gene map locus 20q13.11, 4q12, 2q33, 2q24, Xp11 274900 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 5 #274800 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 4 Gene map locus 6q24-q25 %274700 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 #274600 PENDRED SYNDROME; PDS THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B, INCLUDED Gene map locus 7q31 #274500 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A TOTAL IODIDE ORGANIFICATION DEFECT, INCLUDED; TIOD, INCLUDED Gene map locus 2p25 #274400 THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1 Gene map locus 19p13.2-p12 #274300 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH Gene map locus 3p24.3 274265 THYMIC-RENAL-ANAL-LUNG DYSPLASIA 274240 THYROCEREBRORETINAL SYNDROME 274230 THYMOMA, FAMILIAL 274210 THYMIC APLASIA WITH FETAL DEATH 274205 THUMB, HYPOPLASTIC, WITH CHOROID COLOBOMA, POORLY DEVELOPED ANTIHELIX, AND DEAFNESS 274200 THUMB, DISTAL HYPEREXTENSIBILITY OF %274190 THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY #274150 THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP Gene map locus 9q34 %274000 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME TETRAPHOCOMELIA-THROMBOCYTOPENIA SYNDROME, INCLUDED Gene map locus 1q21.1 %273900 THROMBOCYTOPENIA 3; THC3 #273800 THROMBASTHENIA OF GLANZMANN AND NAEGELI Gene map locus 17q21.32 273770 THREONINEMIA #273750 THREE M SYNDROME YAKUT SHORT STATURE SYNDROME, INCLUDED Gene map locus 6p21.1 273740 THORACOMELIC DYSPLASIA 273730 THORACIC DYSPLASIA-HYDROCEPHALUS SYNDROME 273680 THANATOPHORIC DYSPLASIA, GLASGOW VARIANT 273600 THALIDOMIDE SUSCEPTIBILITY 273490 THALAMIC DEGENERATION, SYMMETRIC INFANTILE 273400 TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES #273395 TETRA-AMELIA, AUTOSOMAL RECESSIVE Gene map locus 17q21 273390 TETRA-AMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES #273300 TESTICULAR TUMORS TESTICULAR GERM CELL TUMOR, INCLUDED; TGCT, INCLUDED Gene map locus 19p13.3, 12q22, 4q12 273250 TESTICULAR REGRESSION SYNDROME; TRS 273150 TESTES, RUDIMENTARY 273120 TERATOMA, PINEAL 273050 TEETH, NONERUPTION OF, WITH MAXILLARY HYPOPLASIA AND GENU VALGUM 273000 TEETH, FUSED 272980 TEETH, CONGENITAL ABSENCE OF, WITH TAURODONTIA AND SPARSE HAIR 272950 TEEBI-SHALTOUT SYNDROME #272800 TAY-SACHS DISEASE; TSD TAY-SACHS DISEASE, JUVENILE, INCLUDED Gene map locus 15q23-q24 272700 TAURODONTISM %272650 TATSUMI FACTOR DEFICIENCY 272620 TARDIVE DYSKINESIA 272600 TAPETORETINAL DEGENERATION WITH ATAXIA 272550 TACHYCARDIA, HYPERTENSION, MICROPHTHALMIA, AND HYPERGLYCINURIA #272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME Gene map locus 3p14.3 272450 SYNDESMODYSPLASIC DWARFISM %272440 SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION #272430 COLD-INDUCED SWEATING SYNDROME 1; CISS1 Gene map locus 19p12 %272370 SUSCEPTIBILITY TO LYSIS BY ALLOREACTIVE NATURAL KILLER CELLS; EC1 Gene map locus 6p21.3 272350 SUMMITT SYNDROME #272300 SULFOCYSTEINURIA Gene map locus Chr.12 #272200 MULTIPLE SULFATASE DEFICIENCY; MSD Gene map locus 3p26 272150 SUGARMAN BRACHYDACTYLY #272120 SUDDEN INFANT DEATH SYNDROME 272100 SUDANOPHILIC CEREBRAL SCLEROSIS 272000 SUCROSURIA, HIATUS HERNIA AND MENTAL RETARDATION #271980 SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Gene map locus 6p22 271960 SUBAORTIC STENOSIS--SHORT STATURE SYNDROME 271950 SUBAORTIC STENOSIS, MEMBRANOUS #271930 STRIATONIGRAL DEGENERATION, INFANTILE; SNDI Gene map locus 19q13.33 #271900 CANAVAN DISEASE Gene map locus 17pter-p13 #271700 SPONDYLOPERIPHERAL DYSPLASIA Gene map locus 12q13.11-q13.2 271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE %271650 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE; SEMDIT %271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY; SEMDJL %271630 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, TOLEDO TYPE 271620 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH MENTAL RETARDATION %271600 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE %271550 SPONDYLOENCHONDRODYSPLASIA %271530 SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA 271520 SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES %271510 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE 271500 SPLENOPORTAL VASCULAR ANOMALIES %271400 SPLENIC HYPOPLASIA 271322 SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM 271320 SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA 271310 SPINOCEREBELLAR DEGENERATION AND CORNEAL DYSTROPHY 271270 SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM %271250 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3; SCAR3 Gene map locus 6p23-p21 #271245 INFANTILE-ONSET SPINOCEREBELLAR ATAXIA; IOSCA Gene map locus 10q24, 10q24 271225 SPINAL MUSCULAR ATROPHY, TYPE I, WITH CONGENITAL BONE FRACTURES 271220 SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL 271200 SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE #271150 SPINAL MUSCULAR ATROPHY, TYPE IV; SMA4 Gene map locus 5q12.2-q13.3 271110 SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY 271109 SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION #270970 SPHEROCYTOSIS, AUTOSOMAL RECESSIVE Gene map locus 1q21 #270960 AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS Gene map locus 12q23 270950 SPASTIC QUADRIPLEGIA, RETINITIS PIGMENTOSA, AND MENTAL RETARDATION 270900 SPASTIC PSEUDOSCLEROSIS 270850 SPASTIC PARESIS, GLAUCOMA, AND MENTAL RETARDATION 270805 SPASTIC PARAPLEGIA WITH MYOCLONIC EPILEPSY #270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A Gene map locus 8q21.3 %270750 SPASTIC PARAPLEGIA 23; SPG23 270710 FITZSIMMONS-GUILBERT SYNDROME #270700 SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE; SPG15 Gene map locus 14q24.1 #270685 SPASTIC PARAPLEGIA 17; SPG17 Gene map locus 11q13 %270600 SPASTIC DIPLEGIA, INFANTILE TYPE #270550 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS Gene map locus 13q12 270500 SPASTIC ATAXIA 270460 SONODA SYNDROME #270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DUE TO INCREASED BINDING PROTEIN, INCLUDED 270425 SODIUM-POTASSIUM-ATPase ACTIVITY OF RED CELL %270420 DIARRHEA 3, SECRETORY SODIUM, CONGENITAL #270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS Gene map locus 11q12-q13 270350 SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL %270300 PEELING SKIN SYNDROME 270240 SKELETAL DYSPLASIA WITH TELANGIECTASES AND MESODERMAL DYSGENESIS OF THE IRIS 270220 SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT #270200 SJOGREN-LARSSON SYNDROME; SLS Gene map locus 17p11.2 %270150 SJOGREN SYNDROME 270100 SITUS INVERSUS VISCERUM 269950 SIDEROBLASTIC ANEMIA, AUTOSOMAL #269921 SIALURIA Gene map locus 9p12-p11 #269920 INFANTILE SIALIC ACID STORAGE DISORDER Gene map locus 6q14-q15 269880 SHORT SYNDROME 269870 SHORT STATURE-OBESITY SYNDROME; SSOS %269860 SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV 269840 SEVERE COMBINED IMMUNODEFICIENCY, ATYPICAL 269800 SENILE PLAQUE FORMATION 269720 EPILEPSY, BENIGN NEONATAL, AUTOSOMAL RECESSIVE #269700 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Gene map locus 11q13 269650 SECRETORY COMPONENT DEFICIENCY 269630 SECOND METATARSAL-METACARPAL SYNDROME #269600 SEA-BLUE HISTIOCYTE DISEASE Gene map locus 19q13.2 #269500 SCLEROSTEOSIS; SOST Gene map locus 17q12-q21 269400 SCLEROCORNEA 269300 SCHWARTZ-LELEK SYNDROME #269250 SCHNECKENBECKEN DYSPLASIA %269200 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2 #269160 SCHIZENCEPHALY Gene map locus 10q26.1 %269150 SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME #269000 SC PHOCOMELIA SYNDROME Gene map locus 8p21.1 268900 SARCOSINEMIA Gene map locus 9q33-q34 268850 SAO PAULO MCA/MR SYNDROME #268800 SANDHOFF DISEASE SANDHOFF DISEASE, ADULT TYPE, INCLUDED Gene map locus 5q13 %268700 SACCHAROPINURIA Gene map locus 7q31.3 268650 RUDIGER SYNDROME 268500 ROWLEY-ROSENBERG SYNDROME #268400 ROTHMUND-THOMSON SYNDROME; RTS Gene map locus 8q24.3 268320 RODRIGUES BLINDNESS 268315 ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION #268310 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE Gene map locus 9q22 268305 ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES #268300 ROBERTS SYNDROME; RBS Gene map locus 8p21.1 268250 RHIZOMELIC SYNDROME 268240 RHEUMATIC FEVER-RELATED ANTIGEN RHEUMATIC FEVER, ACUTE, SUSCEPTIBILITY TO, INCLUDED #268220 RHABDOMYOSARCOMA 2; RMS2 Gene map locus 1p36.2-p36.12, 13q14.1, 2q35 #268210 RHABDOMYOSARCOMA 1; RMS1 Gene map locus 11p15.5 %268200 RHABDOMYOLYSIS, ACUTE RECURRENT #268150 RH-NULL, REGULATOR TYPE; RHN RH DEFICIENCY SYNDROME, INCLUDED Gene map locus 6p21.1-p11 #268130 REVESZ SYNDROME Gene map locus 14q12 #268100 ENHANCED S-CONE SYNDROME; ESCS GOLDMANN-FAVRE SYNDROME, INCLUDED Gene map locus 15q23 %268080 RETINOSCHISIS OF FOVEA 268060 RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE 268050 RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION 268040 RETINOHEPATOENDOCRINOLOGIC SYNDROME 268025 RETINITIS PIGMENTOSA, LATE-ADULT ONSET 268020 RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM 268010 RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS #268000 RETINITIS PIGMENTOSA; RP Gene map locus 19q13.3, 1q41, 16q13, 15q26, 2q14.1 267900 RETINAL TELANGIECTASIA AND HYPOGAMMAGLOBULINEMIA 267800 RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE 267760 RETINAL DEGENERATION WITH NANOPHTHALMOS, CYSTIC MACULAR DEGENERATION, AND ANGLE CLOSURE GLAUCOMA #267750 KNOBLOCH SYNDROME, TYPE I Gene map locus 21q22.3 267740 RETINAL DEGENERATION AND EPILEPSY 267730 RETICULUM CELL SARCOMA %267700 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 Gene map locus 9q21.3-q22 %267500 RETICULAR DYSGENESIA 267480 RESPIRATORY UNDERRESPONSIVENESS TO HYPOXIA AND HYPERCAPNIA #267450 RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS #267430 RENAL TUBULAR DYSGENESIS; RTD RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA, INCLUDED Gene map locus 1q42-q43, 1q32, 17q23, 3q21-q25 267400 RENAL, GENITAL, AND MIDDLE EAR ANOMALIES #267300 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS Gene map locus 2cen-q13 267200 RENAL TUBULAR ACIDOSIS III %267000 RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM 266920 RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY, CEREBELLAR ATAXIA, AND SKELETAL DYSPLASIA 266910 RENAL DYSPLASIA-LIMB DEFECTS SYNDROME #266900 SENIOR-LOKEN SYNDROME 1; SLSN1 Gene map locus 2q13 266810 RENAL AND MULLERIAN DUCT HYPOPLASIA #266600 INFLAMMATORY BOWEL DISEASE 1; IBD1 Gene map locus 19p13, 16q12, 16p, 14q11-q12, 12p13.2-q24.1, 10q23, 8p23.1, 6p, 1p32.1-p31.2, 5q31, 5q31, 3p26, 1p36 #266510 REFSUM DISEASE, INFANTILE FORM Gene map locus 8q21.1, 7q21-q22, 22q11.21 #266500 REFSUM DISEASE Gene map locus 10pter-p11.2, 6q22-q24 266400 REESE RETINAL DYSPLASIA %266350 RED SKIN PIGMENT ANOMALY OF NEW GUINEA #266300 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2 UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO, INCLUDED Gene map locus 16q24.3 #266280 RAPADILINO SYNDROME Gene map locus 8q24.3 266270 RAMON SYNDROME #266265 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C Gene map locus 11p11.2 266255 RADIOULNAR SYNOSTOSIS, UNILATERAL, WITH DEVELOPMENTAL RETARDATION AND HYPOTONIA %266250 RADICULONEUROPATHY, FATAL NEONATAL #266200 PYRUVATE KINASE DEFICIENCY OF RED CELLS Gene map locus 1q21 #266150 PYRUVATE CARBOXYLASE DEFICIENCY Gene map locus 11q13.4-q13.5 #266140 PYROPOIKILOCYTOSIS, HEREDITARY; HPP Gene map locus 1q21 #266130 GLUTATHIONE SYNTHETASE DEFICIENCY Gene map locus 20q11.2 #266120 URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO Gene map locus 7p15-p14 #266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD %265950 PYLORIC ATRESIA %265900 PYLE DISEASE 265880 PYKNOACHONDROGENESIS %265850 PYGMY #265800 PYCNODYSOSTOSIS Gene map locus 1q21 265600 PULMONIC STENOSIS AND CONGENITAL NEPHROSIS 265500 PULMONIC STENOSIS #265450 PULMONARY VENOOCCLUSIVE DISEASE; PVOD Gene map locus 2q33 265430 PULMONARY HYPOPLASIA, PRIMARY 265400 PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE #265380 PULMONARY HYPERTENSION, FAMILIAL PERSISTENT, OF THE NEWBORN %265300 LYMPHANGIECTASIA, PULMONARY, CONGENITAL; CPL 265200 PULMONARY BULLAE CAUSING PNEUMOTHORAX 265150 PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM 265140 PULMONARY ARTERIOVENOUS FISTULAS #265120 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1; SMDP1 Gene map locus 2p12-p11.2 #265100 PULMONARY ALVEOLAR MICROLITHIASIS Gene map locus 4p15.31-p15.2 265050 CARNEVALE SYNDROME #265000 MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT Gene map locus 2q33-q34 #264800 PSEUDOXANTHOMA ELASTICUM; PXE Gene map locus 17q21.3-q22, 16p13.1, 16p13.1 #264700 VITAMIN D-DEPENDENT RICKETS, TYPE I Gene map locus 12q13.1-q13.3 #264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH Gene map locus 2p23 264500 PSEUDOURIDINURIA AND MENTAL DEFECT 264480 PSEUDOTRISOMY 13 SYNDROME 264475 PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES #264470 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY Gene map locus 17q25 264420 FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM #264350 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE; PHA1 Gene map locus 16p13-p12, 16p13-p12, 12p13 #264300 17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY, INCLUDED Gene map locus 9q22 %264270 PSEUDOHERMAPHRODITISM, FEMALE, WITH SKELETAL ANOMALIES 264180 PSEUDODIASTROPHIC DYSPLASIA 264140 PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, AND DEAFNESS 264120 PROLACTIN DEFICIENCY WITH OBESITY AND ENLARGED TESTES 264110 PROLACTIN DEFICIENCY, ISOLATED %264090 PROGEROID SYNDROME, NEONATAL 264080 PROGESTERONE RESISTANCE Gene map locus 11q22 #264070 HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA Gene map locus 10q22 264060 PREPAPILLARY VASCULAR LOOPS 264050 PRENATAL BOWING 264010 PRADER-WILLI HABITUS, OSTEOPENIA, AND CAMPTODACTYLY #263800 GITELMAN SYNDROME Gene map locus 16q13 %263750 POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS #263700 PORPHYRIA, CONGENITAL ERYTHROPOIETIC Gene map locus 10q25.2-q26.3 %263650 POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION 263610 POLYHYDRAMNIOS, CHRONIC IDIOPATHIC 263600 POLYSACCHARIDE, STORAGE OF UNUSUAL #263570 POLYGLUCOSAN BODY DISEASE, ADULT FORM; APBD 263560 POLYNEUROPATHY, MIXED, OF EARLY ONSET 263550 POLYMYOCLONUS, INFANTILE 263540 POLYDACTYLY, POSTAXIAL, WITH DENTAL AND VERTEBRAL ANOMALIES %263530 SHORT RIB-POLYDACTYLY SYNDROME, TYPE I %263520 SHORT RIB-POLYDACTYLY SYNDROME, TYPE II %263510 SHORT RIB-POLYDACTYLY SYNDROME, TYPE III 263450 POLYDACTYLY, POSTAXIAL #263400 ERYTHROCYTOSIS, FAMILIAL, 2 Gene map locus 3p26-p25 #263300 POLYCYTHEMIA VERA Gene map locus 9p24 %263210 POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA #263200 POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD HEPATIC FIBROSIS, CONGENITAL, INCLUDED Gene map locus 6p21.1-p12 263100 POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS %263000 INTERSTITIAL PNEUMONITIS, DESQUAMATIVE, FAMILIAL; DIP 262900 PLEOCONIAL MYOPATHY WITH SALT CRAVING %262890 SCOTT SYNDROME 262875 PLATELET PROSTACYCLIN RECEPTOR DEFECT 262800 PLASMA CLOT RETRACTION FACTOR, DEFICIENCY OF 262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA 262700 PITUITARY DWARFISM WITH SMALL SELLA TURCICA #262650 PITUITARY DWARFISM IV Gene map locus 17q22-q24 #262600 PITUITARY DWARFISM III PITUITARY HORMONE DEFICIENCY, COMBINED, WITH RIGID CERVICAL SPINE, INCLUDED Gene map locus 9q34.3 #262500 GROWTH HORMONE INSENSITIVITY SYNDROME Gene map locus 5p13-p12 #262400 PITUITARY DWARFISM I ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA, INCLUDED Gene map locus 17q22-q24 #262350 PITT SYNDROME #262300 ACHROMATOPSIA 3; ACHM3 Gene map locus 8q21-q22 #262190 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES Gene map locus 19p13.2 262020 PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS #262000 BJORNSTAD SYNDROME; BJS Gene map locus 2q33 261990 PILI TORTI AND DEVELOPMENTAL DELAY 261900 PILI TORTI 261800 PIERRE ROBIN SYNDROME #261750 PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE Gene map locus 16q12-q13 #261740 GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL 261590 PHENFORMIN 4-HYDROXYLATION 261575 PHAVER SYNDROME 261560 PFEIFFER-PALM-TELLER SYNDROME #261550 PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS Gene map locus 19p13.3-p13.2, 12q13 #261540 PETERS-PLUS SYNDROME #261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene map locus 5q2, 3p23-p22 #261500 PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS Gene map locus 17q23.1 261400 PERONEUS TERTIUS MUSCLE, ABSENCE OF #261100 MEGALOBLASTIC ANEMIA 1 Gene map locus 14q32, 10p12.1 #261000 INTRINSIC FACTOR DEFICIENCY; IFD Gene map locus 11q13 260970 PERIPHERAL NEUROPATHY, ATAXIA, FOCAL NECROTIZING ENCEPHALOPATHY, AND SPONGY DEGENERATION OF BRAIN 260950 PERIODONTITIS, CHRONIC #260920 HYPER-IgD SYNDROME; HIDS Gene map locus 12q24 260910 PERIFOLLICULITIS CAPITIS ABSCEDENS ET SUFFODIENS, FAMILIAL 260900 PERICARDIAL EFFUSION, CHRONIC %260800 PENTOSURIA 260660 PELVISCAPULAR DYSPLASIA 260650 PELLAGRA-LIKE SYNDROME %260600 PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 2 260570 PELGER-HUET-LIKE ANOMALY AND EPISODIC FEVER WITH ABDOMINAL PAIN %260565 PEHO SYNDROME PEHO-LIKE SYNDROME, INCLUDED 260555 PARTINGTON-ANDERSON SYNDROME #260540 PARKINSON-DEMENTIA SYNDROME SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, INCLUDED Gene map locus 17q21.1 260530 PARANA HARD-SKIN SYNDROME #260500 PAPILLOMA OF CHOROID PLEXUS 260480 PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX 260470 PANENCEPHALITIS, SUBACUTE SCLEROSING 260450 PANCREATIC INSUFFICIENCY, COMBINED EXOCRINE #260400 SHWACHMAN-DIAMOND SYNDROME; SDS Gene map locus 7q11 #260370 PANCREATIC AGENESIS, CONGENITAL Gene map locus 13q12.1 #260350 PANCREATIC CARCINOMA Gene map locus 17p13.1, 13q12.3, 12p12.1, 3p21.1 %260300 PALLIDOPYRAMIDAL SYNDROME 260200 PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA 260150 PALANT CLEFT PALATE SYNDROME 260130 PACHYONYCHIA CONGENITA, RECESSIVE 260100 PA POLYMORPHISM OF ALPHA-2-GLOBULIN %260005 5-@OXOPROLINASE DEFICIENCY #260000 HYPEROXALURIA, PRIMARY, TYPE II Gene map locus 9cen #259900 HYPEROXALURIA, PRIMARY, TYPE I Gene map locus 2q36-q37 %259780 OTOONYCHOPERONEAL SYNDROME #259775 RAINE SYNDROME; RNS Gene map locus 7p22 #259770 OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG Gene map locus 11q13.4 259750 OSTEOPOROSIS, JUVENILE #259730 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; OPTB3 Gene map locus 8q22 #259720 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 Gene map locus 6q21 #259710 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2; OPTB2 Gene map locus 13q14 #259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Gene map locus 11q13.4-q13.5 259690 OSTEOPENIA AND SPARSE HAIR 259680 CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS; CRMO 259660 OSTEOMALACIA, SCLEROSING, WITH CEREBRAL CALCIFICATION 259650 OSTEOMA OF MIDDLE EAR 259610 OSTEOLYSIS SYNDROME, RECESSIVE 259600 OSTEOLYSIS, HEREDITARY MULTICENTRIC 259550 OSTEOID OSTEOMA #259500 OSTEOGENIC SARCOMA Gene map locus 18q21-q22, 13q14.1-q14.2, 22q12.1 %259450 BRUCK SYNDROME 1 Gene map locus 17p12 259440 OSTEOGENESIS IMPERFECTA, SILLENCE TYPE II/III, WITHOUT ABNORMALITY OF TYPE I COLLAGEN #259420 OSTEOGENESIS IMPERFECTA, TYPE III Gene map locus 17q21.31-q22, 7q22.1 259410 OSTEOGENESIS IMPERFECTA CONGENITA, MICROCEPHALY, AND CATARACTS 259270 OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI %259250 OSTEODYSPLASIA, FAMILIAL, ANDERSON TYPE 259200 OSTEOCHONDROSIS DEFORMANS TIBIAE, FAMILIAL INFANTILE TYPE #259100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE CRANIOOSTEOARTHROPATHY, INCLUDED; COA, INCLUDED 259050 OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND BONY CHANGES 258920 OROTIC ACIDURIA II %258865 OROFACIODIGITAL SYNDROME IX; OFD9 %258860 OROFACIODIGITAL SYNDROME IV; OFD4 %258850 OROFACIODIGITAL SYNDROME III; OFD3 258840 ORAL AND DIGITAL ANOMALIES WITH ICHTHYOSIS 258800 ORAL SENSIBILITY, DISTURBANCE OF %258700 OPTICOCOCHLEODENTATE DEGENERATION #258660 NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO Gene map locus 17pter-p12 258650 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE #258501 3-@METHYLGLUTACONIC ACIDURIA, TYPE III Gene map locus 19q13.2-q13.3 %258500 OPTIC ATROPHY 6; OPA6 Gene map locus 8q21-q22 %258480 OPSISMODYSPLASIA 258470 OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA #258450 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE %258400 OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS %258360 ONYCHOTRICHODYSPLASIA AND NEUTROPENIA 258320 OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL %258315 OMODYSPLASIA, GENERALIZED FORM %258300 OLIVOPONTOCEREBELLAR ATROPHY II, AUTOSOMAL RECESSIVE 258200 OLIVER SYNDROME %258150 OLIGOSYNAPTIC INFERTILITY #258100 OGUCHI DISEASE Gene map locus 13q34, 2q37.1 258040 OEIS COMPLEX #257980 ODONTOONYCHODERMAL DYSPLASIA; OODD Gene map locus 2q35 %257970 OCULORENOCEREBELLAR SYNDROME 257960 OCULOTRICHODYSPLASIA; OTD 257920 OCULOPALATOSKELETAL SYNDROME %257910 OCULOPALATOCEREBRAL SYNDROME %257850 OCULODENTOOSSEOUS DYSPLASIA, RECESSIVE %257800 OCULOCEREBRAL SYNDROME WITH HYPOPIGMENTATION 257790 OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS %257600 OCULAR MYOPATHY WITH CURARE SENSITIVITY %257550 OCULAR MOTOR APRAXIA Gene map locus 2q13 257500 OBESITY-HYPOVENTILATION SYNDROME 257400 NYSTAGMUS, CONGENITAL MOTOR, AUTOSOMAL RECESSIVE 257350 NUCHAL BLEB, FAMILIAL #257320 LISSENCEPHALY 2; LIS2 Gene map locus 7q22 #257300 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME; MVA #257270 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B Gene map locus 5q35 #257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1 NIEMANN-PICK DISEASE, TYPE D, INCLUDED Gene map locus 18q11-q12 #257200 NIEMANN-PICK DISEASE, TYPE A Gene map locus 11p15.4-p15.1 %257150 NEUTROPHIL ACTIN DYSFUNCTION; NAD 257100 NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA 257000 NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES 256870 NEUROPATHY, PAINFUL 256860 NEUROPATHY, HEREDITARY SENSORY, ATYPICAL %256855 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE #256850 GIANT AXONAL NEUROPATHY 1; GAN1 Gene map locus 16q24.1 #256840 NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE Gene map locus 5p15.2 #256810 NAVAJO NEUROHEPATOPATHY; NN NAVAJO FAMILIAL NEUROGENIC ARTHROPATHY, INCLUDED #256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA Gene map locus 1q21-q22 #256731 CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5 NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT, INCLUDED Gene map locus 13q21.1-q32 #256730 CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1 NEURONAL CEROID LIPOFUSCINOSIS, INFANTILE, INCLUDED; INCL, INCLUDED Gene map locus 1p32 256720 NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY #256710 ELEJALDE DISEASE #256700 NEUROBLASTOMA NEUROBLASTOMA SUPPRESSOR, INCLUDED Gene map locus 17q21.3, 1p36.2, 4p12 256690 NEUROFACIODIGITORENAL SYNDROME #256600 NEUROAXONAL DYSTROPHY, INFANTILE; INAD1 NEUROAXONAL DYSTROPHY, LATE INFANTILE, INCLUDED Gene map locus 22q13.1 #256550 NEURAMINIDASE DEFICIENCY SIALIDOSIS, TYPE I, INCLUDED Gene map locus 6p21.3 %256520 NEU-LAXOVA SYNDROME; NLS #256500 NETHERTON SYNDROME; NETH Gene map locus 5q32 #256450 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 Gene map locus 11p15.1 #256370 NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS Gene map locus 11p13 #256300 NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1 Gene map locus 19q13.1 256200 NEPHROSIS WITH DEAFNESS AND URINARY TRACT AND DIGITAL MALFORMATIONS 256150 NEPHROSIALIDOSIS 256120 NEPHROPATHY, DEAFNESS, AND HYPERPARATHYROIDISM #256100 NEPHRONOPHTHISIS 1; NPHP1 Gene map locus 2q13 #256050 ATELOSTEOGENESIS, TYPE II; AOII DE LA CHAPELLE DYSPLASIA, INCLUDED Gene map locus 5q32-q33.1 256040 NAKAJO SYNDROME #256030 NEMALINE MYOPATHY 2; NEM2 Gene map locus 2q22 256020 NAIL-PATELLA-LIKE RENAL DISEASE #256000 LEIGH SYNDROME; LS LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, INCLUDED Gene map locus 19p13, 11q13, 11q13, 11p11.11, 10q24, 9q34, 7q31-q32, 5q11.1, 5p15, 2q33 255995 NATIVE AMERICAN MYOPATHY 255990 NATHALIE SYNDROME %255980 NASODIGITOACOUSTIC SYNDROME #255960 MYXOMA, INTRACARDIAC Gene map locus 17q23-q24 255900 MYXEDEMA #255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Gene map locus 1p36.1 255710 MYOTONIA WITH SKELETAL ABNORMALITIES AND MENTAL RETARDATION #255700 MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE Gene map locus 7q35 255600 MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL 255500 MYOPIA, INFANTILE SEVERE #255320 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA #255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION 1, INCLUDED; CFTD1, INCLUDED Gene map locus 1q42.1 %255300 MYOPATHY, CONGENITAL #255200 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE Gene map locus 2q14 %255160 MYOPATHY, HYALINE BODY, AUTOSOMAL RECESSIVE Gene map locus 3p22.2-p21.32 255140 MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA #255125 MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE Gene map locus 12q24.1 #255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY Gene map locus 11q13 #255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene map locus 1p32 255100 MYOPATHY WITH ABNORMAL LIPID METABOLISM 254960 MYOPATHY DUE TO MALATE-ASPARTATE SHUTTLE DEFECT 254950 MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA 254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE #254900 ACTION MYOCLONUS-RENAL FAILURE SYNDROME; AMRF Gene map locus 4q13-q21 #254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG FAME3, INCLUDED Gene map locus 21q22.3 #254780 MYOCLONIC EPILEPSY OF LAFORA EPILEPSY, PROGRESSIVE MYOCLONIC 2B, INCLUDED; EPM2B, INCLUDED Gene map locus 6q24, 6p22.3 #254770 MYOCLONIC EPILEPSY, JUVENILE, 1; EJM1 Gene map locus 6p12-p11 254700 MYELOPROLIFERATIVE DISEASE, AUTOSOMAL RECESSIVE #254600 MYELOPEROXIDASE DEFICIENCY Gene map locus 17q23.1 #254500 MYELOMA, MULTIPLE AMYLOIDOSIS, PRIMARY, INCLUDED; AL, INCLUDED Gene map locus 13q22-q34, 11q13 #254450 MYELOFIBROSIS MYELOFIBROSIS WITH MYELOID METAPLASIA, INCLUDED; MMM, INCLUDED Gene map locus 9p24 254400 MYCOSIS FUNGOIDES #254300 MYASTHENIA, LIMB-GIRDLE, FAMILIAL #254210 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA Gene map locus 10q11.2 #254200 MYASTHENIA GRAVIS; MG 254190 MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS %254150 MUSK, INABILITY TO SMELL #254130 MIYOSHI MYOPATHY; MM Gene map locus 2p13.3-p13.1 254120 MUSCULAR HYPERTONIA, LETHAL #254110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H Gene map locus 9q31-q34.1 254100 MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION #254090 ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD Gene map locus 2q37, 21q22.3, 21q22.3 254000 MUSCULAR DYSTROPHY, CONGENITAL, WITH INFANTILE CATARACT AND HYPOGONADISM %253900 MUSCULAR DYSTROPHY, CONGENITAL, PRODUCING ARTHROGRYPOSIS #253800 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD Gene map locus 9q31 #253700 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C Gene map locus 13q12 #253601 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B Gene map locus 2p13.3-p13.1 #253600 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A MYOSITIS, EOSINOPHILIC, INCLUDED Gene map locus 15q15.1-q21.1 253590 MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY #253550 SPINAL MUSCULAR ATROPHY, TYPE II; SMA2 Gene map locus 5q12.2-q13.3 #253400 SPINAL MUSCULAR ATROPHY, TYPE III; SMA3 Gene map locus 5q12.2-q13.3 253320 MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPIC HYPOGONADISM #253310 LETHAL CONGENITAL CONTRACTURE SYNDROME 1; LCCS1 Gene map locus 9q34 #253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1 Gene map locus 5q12.2-q13.3 #253290 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE Gene map locus 2q33-q34, 2q33-q34, 2q24-q32 #253280 MUSCLE-EYE-BRAIN DISEASE; MEB Gene map locus 19q13.3, 1p34-p33 #253270 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Gene map locus 21q22.1 #253260 BIOTINIDASE DEFICIENCY MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET Gene map locus 3p25 #253250 MULIBREY NANISM Gene map locus 17q22-q23 %253240 MUCUS INSPISSATION OF RESPIRATORY TRACT #253230 MUCOPOLYSACCHARIDOSIS TYPE VIII #253220 MUCOPOLYSACCHARIDOSIS TYPE VII Gene map locus 7q21.11 #253200 MUCOPOLYSACCHARIDOSIS TYPE VI Gene map locus 5q11-q13 #253010 MORQUIO SYNDROME B Gene map locus 3p21.33 #252940 MUCOPOLYSACCHARIDOSIS TYPE IIID Gene map locus 12q14 #252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC Gene map locus 8p11.1 #252920 MUCOPOLYSACCHARIDOSIS TYPE IIIB Gene map locus 17q21 #252900 MUCOPOLYSACCHARIDOSIS TYPE IIIA Gene map locus 17q25.3 #252700 MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES #252650 MUCOLIPIDOSIS IV Gene map locus 19p13.3-p13.2 #252605 MUCOLIPIDOSIS III GAMMA Gene map locus 16p #252600 MUCOLIPIDOSIS III ALPHA/BETA MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, INCLUDED Gene map locus 12q23.3 #252500 MUCOLIPIDOSIS II ALPHA/BETA Gene map locus 12q23.3 %252350 MOYAMOYA DISEASE 1; MYMY1 Gene map locus 3p26-p24.2 252320 MOTOR NEUROPATHY, PERIPHERAL, WITH DYSAUTONOMIA 252300 MORQUIO SYNDROME, NONKERATOSULFATE-EXCRETING TYPE 252270 MONOSOMY 7 OF BONE MARROW 252250 MONOCYTE CHEMOTACTIC DISORDER 252200 MONILETHRIX #252150 MOLYBDENUM COFACTOR DEFICIENCY MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A, INCLUDED Gene map locus 14q24, 6p21.3, 5q11 %252100 MOHR SYNDROME #252011 MITOCHONDRIAL COMPLEX II DEFICIENCY Gene map locus 5p15 #252010 MITOCHONDRIAL COMPLEX I DEFICIENCY Gene map locus 1q23, 11q13, 6q16.1, 5q12.1, 5q11.1, 5pter-p15.33, 2q33-q34, Xq24 251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS 251945 MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT 251900 MITOCHONDRIAL MYOPATHY #251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM Gene map locus 10q24, 2p13, 2p23-p21 %251850 DIARRHEA 2, WITH MICROVILLOUS ATROPHY %251800 MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS 251750 MICROSPHEROPHAKIA 251700 MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA, AND DENTAL ANOMALIES %251600 MICROPHTHALMIA, ISOLATED 1; MCOP1 Gene map locus 14q32 251505 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 4; MCOPCB4 251455 MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS %251450 DESBUQUOIS SYNDROME; DBQD Gene map locus 17q25.3 251400 MICROCOLON %251300 MICROCEPHALY, HIATUS HERNIA, AND NEPHROTIC SYNDROME 251280 MICROCEPHALY WITH SPASTIC QUADRIPLEGIA %251270 MICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL RECESSIVE CHORIORETINAL DYSPLASIA-MICROCEPHALY-MENTAL RETARDATION SYNDROME, INCLUDED #251260 NIJMEGEN BREAKAGE SYNDROME BERLIN BREAKAGE SYNDROME, INCLUDED; BBS, INCLUDED Gene map locus 8q21 %251255 MICROCEPHALY WITH DIGITAL ANOMALIES 251250 MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIES 251240 MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA %251230 MICROCEPHALY-MICROMELIA SYNDROME 251220 MICROCEPHALY-CARDIOMYOPATHY #251200 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1; MCPH1 Gene map locus 19q13.1-q13.2, 15q15-q21, 8p23 251190 MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE #251120 METHYLMALONYL-CoA EPIMERASE DEFICIENCY METHYLMALONYL-CoA EPIMERASE DEFICIENCY WITH SEPIAPTERIN REDUCTASE DEFICIENCY, INCLUDED #251110 METHYLMALONIC ACIDURIA, cblB TYPE Gene map locus 12q24 #251100 METHYLMALONIC ACIDURIA, cblA TYPE Gene map locus 4q31.1-q31.2 #251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY METHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDED Gene map locus 6p21 250951 3-@METHYLGLUTACONIC ACIDURIA, TYPE IV #250950 3-@METHYLGLUTACONIC ACIDURIA, TYPE I Gene map locus Chr.9 #250940 METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene map locus 1q43 %250900 METHIONINE MALABSORPTION SYNDROME #250850 METHIONINE ADENOSYLTRANSFERASE DEFICIENCY Gene map locus 10q22 250700 METHEMOGLOBIN REDUCTASE DEFICIENCY 250650 METHANE PRODUCTION #250620 BETA-HYDROXYISOBUTYRYL CoA DEACYLASE, DEFICIENCY OF Gene map locus 2q32.2 %250600 METATROPIC DWARFISM 250500 METAPHYSEAL MODELING ABNORMALITY, SKIN LESIONS, AND SPASTIC PARAPLEGIA #250460 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS Gene map locus 9p21-p12 250450 METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY 250420 METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS 250410 METAPHYSEAL CHONDRODYSPLASIA WITH RETINITIS PIGMENTOSA 250400 METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE 250300 METAPHYSEAL CHONDRODYSPLASIA, PENA TYPE #250250 CARTILAGE-HAIR HYPOPLASIA; CHH Gene map locus 9p21-p12 250230 METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE %250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE %250215 METAPHYSEAL ACROSCYPHODYSPLASIA #250100 METACHROMATIC LEUKODYSTROPHY PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED Gene map locus 22q13.31-qter #249900 METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY Gene map locus 10q22.1 249710 MESOMELIC LIMB SHORTENING AND BOWING #249700 LANGER MESOMELIC DYSPLASIA Gene map locus Ypter-p11.2, Xpter-p22.32 249670 MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION 249660 MESANGIAL SCLEROSIS, DIFFUSE RENAL, WITH OCULAR ABNORMALITIES %249650 MERCAPTOLACTATE-CYSTEINE DISULFIDURIA; MCDU 249630 MENTAL RETARDATION, BUENOS AIRES TYPE %249620 MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS, AND HYPOPLASTIC TEETH 249600 MENTAL RETARDATION SYNDROME, MIETENS-WEBER TYPE 249599 MENTAL RETARDATION SYNDROME, BELGIAN TYPE #249500 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1 Gene map locus 4q25-q26 249400 MELANOSIS, NEUROCUTANEOUS %249310 MEGALOCORNEA-MENTAL RETARDATION SYNDROME 249300 MEGALOCORNEA #249270 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA Gene map locus 1q23.3 249240 MEGALENCEPHALY WITH DYSMYELINATION 249230 MEGAEPIPHYSEAL DWARFISM %249210 MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME #249100 FAMILIAL MEDITERRANEAN FEVER; FMF Gene map locus 16p13 #249000 MECKEL SYNDROME, TYPE 1; MKS1 Gene map locus 17q23 248950 MCDONOUGH SYNDROME 248910 MASTOCYTOSIS, CUTANEOUS, WITH SHORT STATURE, CONDUCTIVE HEARING LOSS AND MICROTIA #248900 MAST SYNDROME Gene map locus 15q21-q22 #248800 MARINESCO-SJOGREN SYNDROME; MSS Gene map locus 5q31 248770 MARFANOID MENTAL RETARDATION SYNDROME, AUTOSOMAL 248760 MARFANOID HABITUS WITH MICROCEPHALY AND GLOMERULONEPHRITIS %248700 MARDEN-WALKER SYNDROME #248600 MAPLE SYRUP URINE DISEASE MAPLE SYRUP URINE DISEASE, CLASSIC, INCLUDED Gene map locus 19q13.1-q13.2, 7q31-q32, 1p31, 6q14 #248510 MANNOSIDOSIS, BETA A, LYSOSOMAL Gene map locus 4q22-q25 #248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL ALPHA-MANNOSIDOSIS, TYPE II, INCLUDED Gene map locus 19cen-q12 248450 MANITOBA OCULOTRICHOANAL SYNDROME; MOTA 248400 MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY 248390 MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE #248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Gene map locus 1q21.2 #248360 MALONYL-CoA DECARBOXYLASE DEFICIENCY Gene map locus 16q24 248350 MALOCCLUSION AND SHORT STATURE 248340 MALPUECH FACIAL CLEFTING SYNDROME %248310 PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL Gene map locus 5q31-q33 #248300 MAL DE MELEDA Gene map locus 8qter 248260 MAGNESIUM, ELEVATED RED CELL #248250 HYPOMAGNESEMIA 3, RENAL; HOMG3 Gene map locus 3q27 #248200 STARGARDT DISEASE 1; STGD1 FUNDUS FLAVIMACULATUS, INCLUDED; FFM, INCLUDED Gene map locus 8q21-q22, 1p21-p13 #248190 HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT Gene map locus 1p34.2 248110 MACROSOMIA WITH MICROPHTHALMIA, LETHAL 248100 MACROSOMIA ADIPOSA CONGENITA 248010 MACROEPIPHYSEAL DYSPLASIA WITH OSTEOPOROSIS, WRINKLED SKIN, AND AGED APPEARANCE 248000 MACROCEPHALY 247990 MACDERMOT-WINTER SYNDROME 247950 LYSINE MALABSORPTION SYNDROME %247800 LYMPHOPENIC HYPERGAMMAGLOBULINEMIA, ANTIBODY DEFICIENCY, AUTOIMMUNE HEMOLYTIC ANEMIA, AND GLOMERULONEPHRITIS 247650 LYMPHOKINE DEFICIENCY 247640 LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES; LALL Gene map locus 9p22-p21 247630 LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE 247610 LYMPHOID INTERSTITIAL PNEUMONIA; LIP 247450 LYMPHOBLASTIC TRANSFORMATION, INTRINSIC DEFECT IN 247440 LYMPHEDEMA, CONGENITAL RECESSIVE 247430 LYMPHOBLASTIC TRANSFORMATION, INHIBITION OF 247420 LUTHERAN NULL 247410 LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME #247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS MILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED; MDCR, INCLUDED Gene map locus 17p13.3 247150 LIP PRINTS #247100 LIPOID PROTEINOSIS OF URBACH AND WIETHE Gene map locus 1q21 #246700 CHYLOMICRON RETENTION DISEASE; CMRD Gene map locus 5q31.1 #246650 LIPASE DEFICIENCY, COMBINED Gene map locus 16p13.3 246570 FIBULAR APLASIA, TIBIAL CAMPOMELIA, AND OLIGOSYNDACTYLY SYNDROME 246560 LIMB DEFICIENCIES, DISTAL, WITH MICROGNATHIA 246555 LIMB DEFECTS, DISTAL TRANSVERSE, WITH MENTAL RETARDATION AND SPASTICITY 246550 LICHTENSTEIN SYNDROME 246500 LEUKOMELANODERMA, INFANTILISM, MENTAL RETARDATION, HYPODONTIA, HYPOTRICHOSIS 246470 LEUKEMIA, ACUTE MYELOCYTIC, WITH POLYPOSIS COLI AND COLON CANCER %246400 LETTERER-SIWE DISEASE #246300 LEPROSY, SUSCEPTIBILITY TO LEPROSY, SUSCEPTIBILITY TO, 3, INCLUDED; LPRS3, INCLUDED Gene map locus 4q32 #246200 DONOHUE SYNDROME INSULIN RECEPTOR, DEFECT IN, INCLUDED Gene map locus 19p13.2 %246000 LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT #245900 LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY Gene map locus 16q22.1 245800 LAURENCE-MOON SYNDROME #245660 LARYNGOONYCHOCUTANEOUS SYNDROME; LOCS Gene map locus 18q11.2 245650 LARSEN-LIKE SYNDROME, LETHAL TYPE %245600 LARSEN SYNDROME, RECESSIVE #245590 GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Gene map locus 17q11.2 245570 LANDAU-KLEFFNER SYNDROME; LKS 245552 LAMBOTTE SYNDROME 245550 LAMBERT SYNDROME #245480 SPECIFIC GRANULE DEFICIENCY; SGD Gene map locus 14q11.2 245450 LACTIC ACIDURIA DUE TO D-LACTIC ACID #245400 LACTIC ACIDOSIS, FATAL INFANTILE Gene map locus 2p11.2 #245349 PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Gene map locus 11p13 #245348 PYRUVATE DEHYDROGENASE E2 DEFICIENCY #245340 ERYTHROCYTE LACTATE TRANSPORTER DEFECT Gene map locus 1p13.2-p12 #245300 KURU, SUSCEPTIBILITY TO #245200 KRABBE DISEASE Gene map locus 14q31 245190 KNIEST-LIKE DYSPLASIA, LETHAL 245180 KIFAFA SEIZURE DISORDER 245160 KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS #245150 KEUTEL SYNDROME Gene map locus 12p13.1-p12.3 245130 KETOADIPICACIDURIA %245100 KETOACIDURIA WITH MENTAL DEFICIENCY AND OTHER FEATURES #245050 SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY Gene map locus 5p13 #245010 HAIM-MUNK SYNDROME; HMS Gene map locus 11q14.1-q14.3 #245000 PAPILLON-LEFEVRE SYNDROME; PALS Gene map locus 11q14.1-q14.3 244850 KERATODERMA, PALMOPLANTAR, NORRBOTTEN RECESSIVE TYPE 244600 KERATOCONUS POSTICUS CIRCUMSCRIPTUS; KPC KPC WITH ASSOCIATED MALFORMATIONS, INCLUDED 244510 KERATOCONUS AND CONGENITAL HIP DYSPLASIA #244460 KENNY-CAFFEY SYNDROME, TYPE 1; KCS Gene map locus 1q42-q43 %244450 KAUFMAN OCULOCEREBROFACIAL SYNDROME #244400 KARTAGENER SYNDROME Gene map locus 9p21-p13, 7p21, 5p15-p14 244300 KAPUR-TORIELLO SYNDROME #244200 KALLMANN SYNDROME 3; KAL3 Gene map locus 20p13 244100 JUMPING FRENCHMAN OF MAINE %243910 ARIMA SYNDROME #243800 JOHANSON-BLIZZARD SYNDROME; JBS Gene map locus 15q15-q21.1 %243700 HYPERIMMUNOGLOBULIN E-RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE 243605 JEJUNAL ATRESIA WITH MICROCEPHALY AND OCULAR ANOMALIES %243600 JEJUNAL ATRESIA #243500 ISOVALERIC ACIDEMIA; IVA Gene map locus 15q14-q15 243450 ISOVALERIC ACID, INABILITY TO SMELL 243440 ISOTRETINOIN EMBRYOPATHY-LIKE SYNDROME #243400 ACETYLATION, SLOW ACETYLATION, FAST, INCLUDED Gene map locus 8p23.1-p21.3 243320 INTRINSIC FACTOR AND R BINDER, COMBINED CONGENITAL DEFICIENCY OF 243310 IRIS COLOBOMA WITH PTOSIS, HYPERTELORISM, AND MENTAL RETARDATION #243300 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 1; BRIC1 Gene map locus 18q21 243200 INTRACRANIAL HYPERTENSION, IDIOPATHIC 243185 INTESTINAL PSEUDOOBSTRUCTION WITH PATENT DUCTUS ARTERIOSUS AND NATAL TEETH %243180 VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE NEURONAL INTESTINAL DYSPLASIA, TYPE A, INCLUDED %243150 INTESTINAL ATRESIA, MULTIPLE 243110 INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO 243100 INTERNAL CAROTID ARTERIES, HYPOPLASIA OF 243080 INOSINE PHOSPHORYLASE DEFICIENCY, IMMUNE DEFECT DUE TO #243060 MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA Gene map locus 19q13.3-qter 243050 INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION #243000 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE Gene map locus 2q24 #242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE Gene map locus 2q34-q36 242890 IMMUNOGLOBULIN D LEVEL IN PLASMA, LOW 242880 IMMUNOERYTHROMYELOID HYPOPLASIA 242870 IMMUNODEFICIENCY, PARTIAL COMBINED, WITH ABSENCE OF HLA DETERMINANTS AND BETA-2-MICROGLOBULIN FROM LYMPHOCYTES #242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME Gene map locus 20q11.2 242850 IMMUNE DEFICIENCY DISEASE %242840 IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM %242700 IMMUNE DEFECT DUE TO ABSENCE OF THYMUS 242680 IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIA %242670 IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES #242650 PRIMARY CILIARY DYSKINESIA; PCD CILIARY DYSKINESIA, PRIMARY, 1, INCLUDED; CILD1, INCLUDED Gene map locus 9p21-p13 %242600 IMINOGLYCINURIA 242550 ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA 242530 ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL IMPAIRMENT 242520 ICHTHYOSIS, HEPATOSPLENOMEGALY, AND CEREBELLAR DEGENERATION 242510 ICHTHYOSIS WITH ALOPECIA, ECLABION, ECTROPION, AND MENTAL RETARDATION #242500 ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE Gene map locus 2q34 242400 ICHTHYOSIS CONGENITA WITH BILIARY ATRESIA #242300 ICHTHYOSIS, LAMELLAR, 1; LI1 SELF-HEALING COLLODION BABY, INCLUDED Gene map locus 14q11.2 242150 ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS #242100 ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1; NCIE1 Gene map locus 17p13.1, 17p13.1, 14q11.2 242050 HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY #241850 HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE HYPOTHYROIDISM, THYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE, INCLUDED Gene map locus 9q22 241800 HYPOTHALAMIC HAMARTOMAS CONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED; CHHS, INCLUDED Gene map locus 7p13 241760 HYPOSPADIAS-MENTAL RETARDATION SYNDROME #241600 HYPOPROTEINEMIA, HYPERCATABOLIC Gene map locus 15q21-q22 #241550 HYPOPLASTIC LEFT HEART SYNDROME Gene map locus 6q21-q23.2 241540 HYPOPITUITARISM, CONGENITAL, WITH CENTRAL DIABETES INSIPIDUS #241530 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH Gene map locus 9q34 #241520 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE 241519 HYPOPHOSPHATEMIA, RENAL, WITH INTRACEREBRAL CALCIFICATIONS #241510 HYPOPHOSPHATASIA, CHILDHOOD Gene map locus 1p36.1-p34 #241500 HYPOPHOSPHATASIA, INFANTILE Gene map locus 1p36.1-p34 #241410 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD Gene map locus 1q42-q43 %241310 HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS #241200 BARTTER SYNDROME, ANTENATAL, TYPE 2 Gene map locus 11q24 %241150 HYPOKALEMIA, FAMILIAL 241120 HYPOHIDROSIS WITH ABNORMAL PALMAR DERMAL RIDGES 241100 HYPOGONADISM, MALE 241090 HYPOGONADISM, PRIMARY, AND PARTIAL ALOPECIA %241080 HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, AND EXTRAPYRAMIDAL SYNDROME 241000 HYPOGONADISM WITH LOW-GRADE MENTAL DEFICIENCY AND MICROCEPHALY 240950 HYPOGONADISM-CATARACT SYNDROME 240900 HYPOGLYCEMIA, NEONATAL, SIMULATING FOETOPATHIA DIABETICA #240800 HYPOGLYCEMIA, LEUCINE-INDUCED; LIH Gene map locus 11p15.1 #240600 GLYCOGEN STORAGE DISEASE 0, LIVER Gene map locus 12p12.2 #240500 COMMON VARIABLE IMMUNODEFICIENCY; CVID Gene map locus 17p11.2 240400 HYPOASCORBEMIA L-GULONOLACTONE OXIDASE PSEUDOGENE, INCLUDED; GULOP, INCLUDED Gene map locus 8p21.1 #240300 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1 POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE, INCLUDED Gene map locus 21q22.3 %240200 HYPOADRENOCORTICISM, FAMILIAL 240150 HYPERVITAMINOSIS A, SUSCEPTIBILITY TO 240000 HYPERURICEMIA, INFANTILE, WITH ABNORMAL BEHAVIOR AND NORMAL HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 239900 HYPERTROPHIC NEUROPATHY AND CATARACT %239850 HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239840 HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY AND MOTOR NEUROPATHY %239800 HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME 239711 HYPERTELORISM AND TETRALOGY OF FALLOT 239710 ACROFRONTOFACIONASAL DYSOSTOSIS, SEVERE #239510 HYPERPROLINEMIA, TYPE II Gene map locus 1p36 #239500 HYPERPROLINEMIA, TYPE I Gene map locus 22q11.2 239400 HYPERPIPECOLATEMIA 239350 HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES %239300 HYPERPHOSPHATASIA WITH MENTAL RETARDATION #239200 HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY; NSHPT Gene map locus 3q13.3-q21 239199 HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA #239100 HYPEROSTOSIS CORTICALIS GENERALISATA Gene map locus 17q12-q21 #239000 PAGET DISEASE, JUVENILE Gene map locus 8q24 #238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME Gene map locus 13q14 238950 HYPEROPIA, HIGH 238800 HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIA 238750 HYPERLYSINURIA WITH HYPERAMMONEMIA 238710 HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA #238700 HYPERLYSINEMIA Gene map locus 7q31.3 #238600 HYPERLIPOPROTEINEMIA, TYPE I Gene map locus 8p22 238350 HYPERLEXIA 238340 HYPERLEUCINE-ISOLEUCINEMIA %238320 HYPERGONADOTROPIC HYPOGONADISM; HHG #237900 HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL BREASTFEEDING JAUNDICE, INCLUDED Gene map locus 2q37 %237800 HYPERBILIRUBINEMIA, SHUNT 237550 HYPERBILIRUBINEMIA, CONJUGATED, TYPE III #237500 DUBIN-JOHNSON SYNDROME; DJS Gene map locus 10q24 %237450 HYPERBILIRUBINEMIA, ROTOR TYPE 237400 HYPER-BETA-ALANINEMIA #237310 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY Gene map locus 17q21.31 #237300 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO Gene map locus 2q35 237100 HYMEN, IMPERFORATE 237000 HYDROXYPROLINEMIA %236900 HYDROXYLYSINURIA %236800 HYDROXYKYNURENINURIA %236795 3-@HYDROXYISOBUTYRIC ACIDURIA #236792 L-2-HYDROXYGLUTARIC ACIDURIA Gene map locus 14q22.1 #236750 HYDROPS FETALIS, IDIOPATHIC %236730 UROFACIAL SYNDROME; UFS Gene map locus 10q23-q24 #236700 MCKUSICK-KAUFMAN SYNDROME; MKKS Gene map locus 20p12 236690 HYDROCEPHALUS, NORMAL-PRESSURE #236680 HYDROLETHALUS SYNDROME 1 Gene map locus 11q24.2 #236670 WALKER-WARBURG SYNDROME; WWS MUSCULAR DYSTROPHY, CONGENITAL, PLUS MENTAL RETARDATION, INCLUDED Gene map locus 19q13.3, 14q24.3, 9q34.1, 9q31, 22q12.3-q13.1 236660 HYDROCEPHALUS, TALL STATURE, JOINT LAXITY, AND KYPHOSCOLIOSIS 236640 HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS 236635 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS 236600 HYDROCEPHALUS 236500 HYDRANENCEPHALY WITH RENAL APLASIA-DYSPLASIA #236490 HYALINOSIS, INFANTILE SYSTEMIC Gene map locus 4q21 236450 HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME 236410 HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES %236400 HUMERORADIAL SYNOSTOSIS HUMERORADIAL/MULTIPLE SYNOSTOSIS SYNDROME; INCLUDED 236300 HOOFT DISEASE #236270 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE Gene map locus 5p15.3-p15.2 #236250 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY MTHFR DEFICIENCY, THERMOLABILE TYPE, INCLUDED Gene map locus 1p36.3 236130 HOMOCARNOSINOSIS 236110 HOLZGREVE SYNDROME %236100 HOLOPROSENCEPHALY HOLOPROSENCEPHALY 1, INCLUDED; HPE1, INCLUDED Gene map locus 2q37.1-q37.3, 21q22.3 236000 HODGKIN LYMPHOMA %235900 HISTIOCYTOSIS, FAMILIAL LIPOCHROME %235830 HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT #235800 HISTIDINEMIA Gene map locus 12q22-q23 235760 HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIAL FEATURES 235750 HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIG TOES, AND VENTRICULAR SEPTAL DEFECT 235740 HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS #235730 MOWAT-WILSON SYNDROME Gene map locus 2q22 #235700 HEXOKINASE DEFICIENCY HEMOLYTIC ANEMIA #235600 HERMAPHRODITISM, TRUE #235555 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 #235550 HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY; VODI Gene map locus 2q37.1 %235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 235500 HEMOSIDEROSIS, PULMONARY, WITH DEFICIENCY OF GAMMA-A GLOBULIN #235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL; aHUS HEMOLYTIC UREMIC SYNDROME, TYPICAL, INCLUDED Gene map locus 1q32, 1q32 235370 HEMOLYTIC ANEMIA WITH THERMAL SENSITIVITY OF RED CELLS 235360 HEMOLYTIC ANEMIA, CONGENITAL, WITH EMPHYSEMA AND CUTIS LAXA %235255 MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY %235000 HEMIHYPERPLASIA, ISOLATED; IH HEMI-3 SYNDROME, INCLUDED Gene map locus 11p15 234820 HEMANGIOPERICYTOMA, MALIGNANT 234810 HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY 234800 HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURES 234750 HEART, MALFORMATION OF 234700 HEART BLOCK, CONGENITAL 234580 HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS #234500 HARTNUP DISORDER Gene map locus 5p15 234350 HALOTHANE HEPATITIS 234300 HALO NEVI 234280 HALLUX VARUS AND PREAXIAL POLYSYNDACTYLY 234250 HALL-RIGGS MENTAL RETARDATION SYNDROME #234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 Gene map locus 20p13-p12.3 234100 HALLERMANN-STREIFF SYNDROME; HSS #234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1 Gene map locus 7p14 234030 HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION #234000 FACTOR XII DEFICIENCY Gene map locus 5q33-qter #233910 GTP CYCLOHYDROLASE I DEFICIENCY Gene map locus 14q22.1-q22.2 233810 GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA 233805 GROWTH FACTORS, COMBINED DEFECT OF 233800 GROUPED PIGMENTATION OF THE MACULA #233710 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II Gene map locus 1q25 #233700 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I Gene map locus 7q11.23 #233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE Gene map locus 16q24 233670 GRANULOMATOUS DISEASE WITH DEFECT IN NEUTROPHIL CHEMOTAXIS #233650 COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS Gene map locus 11p13, 11p13 233600 GRANULOCYTOPENIA WITH IMMUNOGLOBULIN ABNORMALITY 233500 GORLIN-CHAUDHRY-MOSS SYNDROME 233450 GOODPASTURE SYNDROME 233430 GONADAL DYSGENESIS, XY TYPE, WITH ASSOCIATED ANOMALIES %233420 GONADAL DYSGENESIS, XY TYPE GONADAL DYSGENESIS, 46,XY, PURE, INCLUDED Gene map locus 5cen %233400 GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS #233300 OVARIAN DYSGENESIS 1; ODG1 Gene map locus 2p21-p16 233270 GOMBO SYNDROME #233100 RENAL GLUCOSURIA; GLYS1 Gene map locus 16p11.2 232900 GLYCOPROTEIN STORAGE DISEASE #232800 GLYCOGEN STORAGE DISEASE VII Gene map locus 12q13.3 #232600 GLYCOGEN STORAGE DISEASE V Gene map locus 11q13 #232500 GLYCOGEN STORAGE DISEASE IV GSD IV, CLASSIC HEPATIC, INCLUDED Gene map locus 3p12 #232400 GLYCOGEN STORAGE DISEASE III GLYCOGEN STORAGE DISEASE IIIa, INCLUDED; GSD IIIa, INCLUDED Gene map locus 1p21 #232300 GLYCOGEN STORAGE DISEASE II Gene map locus 17q25.2-q25.3 #232240 GLYCOGEN STORAGE DISEASE Ic GLYCOGEN STORAGE DISEASE Id, INCLUDED; GSD1D, INCLUDED Gene map locus 11q23, 6p21.3 #232220 GLYCOGEN STORAGE DISEASE Ib Gene map locus 11q23 231970 GLUTEAL MUSCLES, ABSENCE OF #231900 GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO Gene map locus 20q11.2 231690 GLUTARYL-CoA OXIDASE DEFICIENCY #231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD GLUTARIC ACIDURIA IIA, INCLUDED Gene map locus 19q13.3, 15q23-q25, 4q32-qter #231670 GLUTARIC ACIDEMIA I Gene map locus 19p13.2 231630 GLUTAMATE MONOSODIUM SENSITIVITY #231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA ACHALASIA-ALACRIMA SYNDROME, INCLUDED Gene map locus 12q13 #231530 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY Gene map locus 4q22-q26 #231300 GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A Gene map locus 2p22-p21 #231200 GIANT PLATELET SYNDROME MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE, INCLUDED Gene map locus 17pter-p12, 3q21, 22q11.2 231100 HEMOCHROMATOSIS, NEONATAL #231095 GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD Gene map locus 7q34 #231090 HYDATIDIFORM MOLE Gene map locus 19q13.4 231080 GERMAN SYNDROME %231070 GERODERMA OSTEODYSPLASTICA; GO 231060 GENITOPALATOCARDIAC SYNDROME %231050 GELEOPHYSIC DYSPLASIA #231005 GAUCHER DISEASE, TYPE IIIC Gene map locus 1q21 #231000 GAUCHER DISEASE, TYPE III GAUCHER DISEASE, TYPE IIIA, INCLUDED Gene map locus 1q21 #230900 GAUCHER DISEASE, TYPE II Gene map locus 1q21 #230800 GAUCHER DISEASE, TYPE I Gene map locus 1q21 230750 GASTROSCHISIS ABDOMINAL WALL DEFECTS, INCLUDED %230740 GAPO SYNDROME 230710 GANGLIOSIDOSIS, GM2, JUVENILE, A(M)B VARIANT %230700 GANGLIOSIDOSIS, GM2, TYPE III, OR JUVENILE TYPE #230650 GM1-GANGLIOSIDOSIS, TYPE III Gene map locus 3p21.33 #230600 GM1-GANGLIOSIDOSIS, TYPE II GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE, INCLUDED Gene map locus 3p21.33 #230500 GM1-GANGLIOSIDOSIS, TYPE I GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, INCLUDED Gene map locus 3p21.33 #230450 GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO Gene map locus 6p12 #230400 GALACTOSEMIA Gene map locus 9p13 #230350 GALACTOSE EPIMERASE DEFICIENCY Gene map locus 1p36-p35 230300 GALACTORRHEA #230200 GALACTOKINASE DEFICIENCY Gene map locus 17q24 %229850 FRYNS SYNDROME; FRNS #229700 FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY Gene map locus 9q22.2-q22.3 229650 FRUCTOSE UTILIZATION %229500 FRUCTOSE AND GALACTOSE INTOLERANCE %229400 FRONTOFACIONASAL DYSOSTOSIS 229310 FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA #229300 FRIEDREICH ATAXIA 1; FRDA FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED Gene map locus 9q13, 9p23-p11 229250 FREESIA FLOWERS, INABILITY TO SMELL 229230 FRASER-LIKE SYNDROME #229200 BRITTLE CORNEA SYNDROME; BCS EHLERS-DANLOS SYNDROME VI PHENOTYPE WITH MACROCEPHALY, INCLUDED Gene map locus 16q24 229120 FOUNTAIN SYNDROME #229100 FORMIMINOTRANSFERASE DEFICIENCY Gene map locus 21q22.3 #229070 FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED Gene map locus 11p13 %229050 FOLIC ACID, TRANSPORT DEFECT INVOLVING 229045 FOCAL EPITHELIAL HYPERPLASIA, ORAL 228990 FLECK RETINA OF KANDORI 228980 FLECK RETINA, FAMILIAL BENIGN 228940 FIBULOULNAR APLASIA OR HYPOPLASIA WITH RENAL ABNORMALITIES #228930 FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY Gene map locus 3p25 #228900 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY Gene map locus 20q11.2 228800 FIBROSCLEROSIS, MULTIFOCAL #228600 FIBROMATOSIS, JUVENILE HYALINE Gene map locus 4q21 228560 FIBROMATOSIS, GINGIVAL, WITH DISTINCTIVE FACIES %228550 FIBROMATOSIS, CONGENITAL GENERALIZED; CGF MYOFIBROMATOSIS, JUVENILE, INCLUDED %228520 FIBROCHONDROGENESIS 228400 FEVER, FAMILIAL LIFELONG PERSISTENT 228355 FETAL IODINE DEFICIENCY DISORDER; FIDD #228300 FERTILE EUNUCH SYNDROME Gene map locus 4q21.2 %228250 FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY 228200 FEMUR-FIBULA-ULNA SYNDROME %228100 FATTY METAMORPHOSIS OF VISCERA 228020 FASCIAL DYSTROPHY, CONGENITAL 227850 FANCONI-LIKE SYNDROME #227810 FANCONI-BICKEL SYNDROME; FBS Gene map locus 3q26.1-q26.3 #227650 FANCONI ANEMIA; FA FANCONI ANEMIA, ESTREN-DAMESHEK VARIANT, INCLUDED Gene map locus 16q24.3 %227330 FACIODIGITOGENITAL SYNDROME, RECESSIVE 227320 FACIOTHORACOGENITAL SYNDROME 227310 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, WITH NORMAL PROTEIN C AND PROTEIN C INHIBITOR #227300 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF; F5F8D Gene map locus 18q21.3-q22, 2p21-p16.3 227280 FACIOCARDIORENAL SYNDROME 227270 FACIOCARDIOMELIC DYSPLASIA, LETHAL %227260 FACIAL ECTODERMAL DYSPLASIA 227255 FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS 227250 FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION #227240 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5 Gene map locus 5p13.3 #227220 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1 Gene map locus 15q13.1, 15q11.2-q12 227210 EYEBROWS, DUPLICATION OF, WITH STRETCHABLE SKIN AND SYNDACTYLY 227200 EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC Gene map locus 8p21-p11.2 %227150 ETHANOLAMINOSIS %227090 ERYTHRODERMA, LETHAL CONGENITAL %227050 TRANSIENT ERYTHROBLASTOPENIA OF CHILDHOOD Gene map locus 19q13.2 227010 ERMINE PHENOTYPE BLACK LOCKS WITH ALBINISM AND DEAFNESS SYNDROME, INCLUDED; BADS SYNDROME, INCLUDED 227000 ERYTHEMA OF ACRAL REGIONS 226990 EPSTEIN-BARR VIRUS, SUSCEPTIBILITY TO CHRONIC INFECTION BY 226985 EPITHELIAL SQUAMOUS DYSPLASIA, KERATINIZING DESQUAMATIVE, OF URINARY TRACT #226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS Gene map locus 2p12 %226960 EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS 226950 EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS #226900 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4 Gene map locus 5q32-q33.1 226850 EPILEPSY-TELANGIECTASIA 226810 EPILEPSY WITH BILATERAL OCCIPITAL CALCIFICATIONS 226800 EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND MENTAL RETARDATION %226750 KOHLSCHUTTER-TONZ SYNDROME 226735 EPIDERMOLYSIS BULLOSA WITH DIAPHRAGMATIC HERNIA #226730 EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA Gene map locus 17q11-qter, Chr.2 #226700 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE Gene map locus 18q11.2, 1q32, 1q25-q31 #226670 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY Gene map locus 8q24 #226650 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, INCLUDED Gene map locus 18q11.2, 1q32, 17q11-qter, 1q25-q31, 10q24.3 #226600 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT, INCLUDED Gene map locus 11q22-q23, 3p21.3 %226500 EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA 226440 EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH MENTAL RETARDATION #226400 EPIDERMODYSPLASIA VERRUCIFORMIS; EV Gene map locus 17q25, 17q25 226350 EOSINOPHILIC FASCIITIS %226300 ENTEROPATHY, PROTEIN-LOSING Gene map locus 16q24.3 #226200 ENTEROKINASE DEFICIENCY Gene map locus 21q21 226150 ENTEROCOLITIS 226110 ENDOTHELIAL DYSTROPHY, CONGENITAL HEREDITARY, WITH NAIL HYPOPLASIA 226100 ENDOCARDIAL FIBROELASTOSIS AND COARCTATION OF ABDOMINAL AORTA 226000 ENDOCARDIAL FIBROELASTOSIS; EFE %225790 ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY; EPV 225755 ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, GROWTH HORMONE DEFICIENCY, MICROCEPHALY, AND RETINAL DEGENERATION 225753 ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA #225750 AICARDI-GOUTIERES SYNDROME 1; AGS1 Gene map locus 3p21.3-p21.2 225740 ENCEPHALOPATHY, AXONAL, WITH NECROTIZING MYOPATHY, CARDIOMYOPATHY, AND CATARACTS 225700 ENCEPHALOMALACIA, MULTILOCULAR #225500 ELLIS-VAN CREVELD SYNDROME; EVC Gene map locus 4p16, 4p16 225450 ELLIPTOCYTOSIS, ATYPICAL #225410 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE Gene map locus 5q23 #225400 EHLERS-DANLOS SYNDROME, TYPE VI Gene map locus 1p36.3-p36.2 #225320 EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM Gene map locus 7q22.1 225310 EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTIN ABNORMALITY 225300 ECTRODACTYLY 225290 ECTRODACTYLY-POLYDACTYLY #225280 EEM SYNDROME %225200 ECTOPIA LENTIS WITH ECTOPIA OF PUPIL 225100 ECTOPIA LENTIS #225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1 OROFACIAL CLEFT 7, INCLUDED; OFC7, INCLUDED Gene map locus 11q23-q24 225050 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND CILIARY DYSKINESIA 225040 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH HYPOTHYROIDISM AND AGENESIS OF THE CORPUS CALLOSUM %225000 ROSSELLI-GULIENETTI SYNDROME Gene map locus 11q23-q24 #224900 ECTODERMAL DYSPLASIA, ANHIDROTIC Gene map locus 2q11-q13, 1q42.2-q43 224800 ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS %224750 SCHOPF-SCHULZ-PASSARGE SYNDROME 224700 EBSTEIN ANOMALY %224690 EAR, PATELLA, SHORT STATURE SYNDROME 224550 DYSTONIA WITH RINGBINDEN %224500 DYSTONIA, TORSION, 2, AUTOSOMAL RECESSIVE; DYT2 #224410 DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE; DDSH Gene map locus 1p36.1 %224400 DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE %224300 DYSOSTEOSCLEROSIS 224250 DYSMYELINATION WITH JAUNDICE #224230 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE Gene map locus 15q14-q15 224200 DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE #224120 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I Gene map locus 15q15 %224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2 Gene map locus 20q11.2 #224050 CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED; VLDLRCH CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, AND QUADRUPEDAL LOCOMOTION, VLDLR-ASSOCIATED, INCLUDED Gene map locus 9p24 224000 DYSAUTONOMIA-LIKE DISORDER #223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 Gene map locus 9q31 #223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC Gene map locus 18q12-q21.1 223550 DWARFISM, PROPORTIONATE, WITH HIP DISLOCATION 223540 DWARFISM, MENTAL RETARDATION, AND EYE ABNORMALITY 223500 DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE 223400 DUODENAL ATRESIA 223380 DOPAMINE BETA-HYDROXYLASE, PLASMA, THERMOLABILITY OF %223370 DUBOWITZ SYNDROME #223360 DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL Gene map locus 9q34 223350 DOHLE BODIES AND LEUKEMIA 223340 DK PHOCOMELIA SYNDROME 223330 DIVERTICULOSIS OF BOWEL, HERNIA, AND RETINAL DETACHMENT 223320 DIVERTICULOSIS, SMALL-INTESTINAL 223300 DISSEMINATED SCLEROSIS WITH NARCOLEPSY 223200 DISORGANIZATION, MOUSE, HOMOLOG OF #223100 LACTASE PERSISTENCE HYPOLACTASIA, ADULT TYPE, INCLUDED Gene map locus 2q21, 2q21 #223000 LACTASE DEFICIENCY, CONGENITAL #222900 SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID Gene map locus 3q25-q26 #222765 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2 Gene map locus 1q42 222760 DIGITORENOCEREBRAL SYNDROME 222730 DICARBOXYLICAMINO ACIDURIA Gene map locus 9p24 #222700 LYSINURIC PROTEIN INTOLERANCE; LPI Gene map locus 14q11.2 %222690 DIBASIC AMINO ACIDURIA I #222600 DIASTROPHIC DYSPLASIA DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, INCLUDED Gene map locus 5q32-q33.1 222500 DIASTEMATOMYELIA %222470 TRICHOHEPATOENTERIC SYNDROME #222448 DONNAI-BARROW SYNDROME Gene map locus 2q24-q31 %222400 DIAPHRAGMATIC HERNIA 2; DIH2 Gene map locus 8p23.1 222350 DIAMINOPENTANURIA #222300 WOLFRAM SYNDROME 1; WFS1 WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, INCLUDED Gene map locus 4p16.1 %222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM DIABETES MELLITUS, INSULIN-DEPENDENT, 1, INCLUDED; IDDM1, INCLUDED Gene map locus 12q24.2, 12q24.2, 1p13, 6p21.3, 6pter-p21, Xp11.23-q13.3 221995 DIABETES INSIPIDUS, NEPHROGENIC, WITH MENTAL RETARDATION AND INTRACEREBRAL CALCIFICATION 221950 DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA %221900 RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL; RNANC Gene map locus 10q21 221820 GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL Gene map locus 17q21-q22 221810 DERMATOOSTEOLYSIS, KIRGHIZIAN TYPE %221800 DERMOCHONDROCORNEAL DYSTROPHY 221790 DERMATOLEUKODYSTROPHY 221780 DERMATOGLYPHICS--HYPOTHENAR RADIAL ARCH #221770 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL Gene map locus 19q13.1, 6p21.2 221760 DERMATOGLYPHICS--PALMAR TRIRADIUS d, ABSENCE OF 221750 DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM 221740 DEAFNESS-OLIGODONTIA SYNDROME 221700 DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS 221500 DEAFNESS, NEURAL, CONGENITAL MODERATE 221400 DEAFNESS, NERVE TYPE, WITH MESENTERIC DIVERTICULA OF SMALL BOWEL AND PROGRESSIVE SENSORY NEUROPATHY %221350 DEAFNESS, CONGENITAL, WITH VITILIGO AND ACHALASIA 221320 DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES %221300 DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR 221200 DEAFNESS, COCHLEAR, WITH MYOPIA AND INTELLECTUAL IMPAIRMENT 220900 DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM #220700 DEAFNESS, AUTOSOMAL RECESSIVE %220600 SPLIT-HAND/FOOT MALFORMATION WITH SENSORINEURAL HEARING LOSS Gene map locus 7q21.2-q21.3 %220500 DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, AND MENTAL RETARDATION SYNDROME #220400 JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1 Gene map locus 11p15.5, 21q22.1-q22.2 220300 DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY #220290 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1 DEAFNESS, NONSYNDROMIC SENSORINEURAL, DIGENIC, INCLUDED Gene map locus 13q11-q12 220220 DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY 220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, AND BRACHYTELEPHALANGY %220210 DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT %220200 DANDY-WALKER SYNDROME; DWS Gene map locus 3q24, 3q24 #220150 HYPOURICEMIA, RENAL URIC ACID UROLITHIASIS, INCLUDED Gene map locus 11q13 %220120 D-GLYCERIC ACIDEMIA #220111 LEIGH SYNDROME, FRENCH-CANADIAN TYPE; LSFC Gene map locus 2p21-p16 #220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY #220100 CYSTINURIA CYSTINURIA, TYPE A, INCLUDED Gene map locus 2p16.3 #219900 CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE Gene map locus 17p13 #219800 CYSTINOSIS, NEPHROPATHIC; CTNS CYSTINOSIS, INFANTILE NEPHROPATHIC, INCLUDED Gene map locus 17p13 #219750 CYSTINOSIS, ADULT NONNEPHROPATHIC Gene map locus 17p13 219730 CYSTIC KIDNEY DISEASE WITH VENTRICULOMEGALY 219721 CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND SUBNORMAL MENTALITY #219700 CYSTIC FIBROSIS; CF Gene map locus 19q13.1, 7q31.2 219600 CYSTIC DISEASE OF LUNG 219550 CYSTEINE PEPTIDURIA #219500 CYSTATHIONINURIA Gene map locus 1p31.1 219400 CYANOSIS AND HEPATIC DISEASE 219300 CUTIS VERTICIS GYRATA AND MENTAL DEFICIENCY; CVG/MR 219250 CUTIS MARMORATA TELANGIECTATICA CONGENITA; CMTC #219200 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II Gene map locus 12q24.3 %219150 CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION #219100 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I Gene map locus 14q32.1, 11q13, 5q23.3-q31.2 219095 CUTANEOUS PHOTOSENSITIVITY AND COLITIS, LETHAL #219090 PITUITARY ADENOMA, ACTH-SECRETING Gene map locus 11q13.3 #219080 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH 219070 CURVED NAIL OF FOURTH TOE #219050 CRYPTORCHIDISM, UNILATERAL OR BILATERAL Gene map locus 19p13.2, 13q13.1 #219000 FRASER SYNDROME CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME, INCLUDED Gene map locus 13q13.3, 4q21 %218900 CROME SYNDROME #218800 CRIGLER-NAJJAR SYNDROME Gene map locus 2q37 #218700 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Gene map locus 2q12-q14 218670 CRANIOTELENCEPHALIC DYSPLASIA 218650 CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME 218649 CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG #218600 BALLER-GEROLD SYNDROME; BGS Gene map locus 8q24.3 218550 CRANIOSYNOSTOSIS WITH FIBULAR APLASIA 218530 CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS 218500 CRANIOSYNOSTOSIS SCAPHOCEPHALY, INCLUDED 218455 CRANIOSYNOSTOSIS-MICROCEPHALY WITH CHROMOSOMAL BREAKAGE AND OTHER ABNORMALITIES 218450 CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY, AND MANDIBULAR ANKYLOSIS %218400 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE; CMDR Gene map locus 6q21-q22 218350 CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE 218340 CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM, AND AORTIC DILATATION %218330 CRANIOECTODERMAL DYSPLASIA 218300 CRANIODIAPHYSEAL DYSPLASIA; CDD 218200 CRANIAL NERVES, RECURRENT PARESIS OF %218100 CRANIAL NERVES, CONGENITAL PARESIS OF 218090 CRANE-HEISE SYNDROME 218050 CRAMPS, FAMILIAL ADOLESCENT #218040 COSTELLO SYNDROME MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED; CMEMS; INCLUDED Gene map locus 12p12.1, 11p15.5 218010 CORTICAL BLINDNESS, RETARDATION, AND POSTAXIAL POLYDACTYLY #218000 AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN Gene map locus 15q13-q14 217990 CORPUS CALLOSUM, AGENESIS OF %217980 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE #217800 MACULAR DYSTROPHY, CORNEAL, 1; MCDC1 MACULAR CORNEAL DYSTROPHY, TYPE II, INCLUDED Gene map locus 16q22 #217700 CORNEAL ENDOTHELIAL DYSTROPHY 2; CHED2 Gene map locus 20p13-p12 217600 CORNEAL DYSTROPHY, CENTRAL TYPE 217520 CORNEAL DEGENERATION, BAND-SHAPED SPHEROID %217500 CORNEAL DYSTROPHY, BAND-SHAPED #217400 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS Gene map locus 20p13-p12, 20p13 #217300 CORNEA PLANA 2; CNA2 Gene map locus 12q22 217200 CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET 217150 CONTRACTURES, CONGENITAL, TORTICOLLIS, AND MALIGNANT HYPERTHERMIA %217100 CONSTRICTING BANDS, CONGENITAL ADAM COMPLEX, INCLUDED #217095 CONOTRUNCAL HEART MALFORMATIONS; CTHM TRUNCUS ARTERIOSUS COMMUNIS, INCLUDED Gene map locus 19p12, 8p21, 2q21.1, 22q11.2 #217090 PLASMINOGEN DEFICIENCY, TYPE I LIGNEOUS CONJUNCTIVITIS, INCLUDED Gene map locus 6q26 217085 CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY %217080 CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA 216920 COMBINED INFLAMMATORY AND IMMUNOLOGIC DEFECT #216900 ACHROMATOPSIA 2; ACHM2 Gene map locus 2q11 216820 COLOBOMA, OCULAR 216800 COLOBOMA OF MACULA AND SKELETAL ANOMALIES %216700 COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING #216550 COHEN SYNDROME; COH1 Gene map locus 8q22-q23 216411 COCKAYNE SYNDROME, TYPE III #216400 COCKAYNE SYNDROME, TYPE A; CSA Gene map locus 5q12 216360 COACH SYNDROME %216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA 216330 CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM 216300 CLEFT PALATE, DEAFNESS, AND OLIGODONTIA 216100 CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY 215850 CLEFT-LIMB-HEART MALFORMATION SYNDROME 215800 CLEFT LARYNX, POSTERIOR STRIDOR, CONGENITAL, INCLUDED 215720 CITRULLINE TRANSPORT DEFECT #215700 CITRULLINEMIA, CLASSIC Gene map locus 9q34.1 #215600 CIRRHOSIS, FAMILIAL CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED Gene map locus 12q13, 12q13 215550 CIRCUMVALLATE PLACENTA SYNDROME %215520 CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES 215518 CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION 215510 CHROMOSOMAL INSTABILITY WITH TISSUE-SPECIFIC RADIOSENSITIVITY %215500 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR; CACD Gene map locus 17p 215480 CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION %215470 CHORIORETINAL DYSTROPHY, SPINOCEREBELLAR ATAXIA, AND HYPOGONADOTROPIC HYPOGONADISM 215450 CHOREA, BENIGN FAMILIAL %215400 CHORDOMA; CHDM Gene map locus 7q33 #215300 CHONDROSARCOMA Gene map locus 8q24.11-q24.13 215250 CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME #215150 OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED Gene map locus 6p21.3 #215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA Gene map locus 1q42.1 215105 CHONDRODYSPLASIA PUNCTATA SYNDROME #215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Gene map locus 6q22-q24 215050 CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS #215045 CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD Gene map locus 3p22-p21.1 215030 CHOLESTEROL PNEUMONIA 214980 CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE #214950 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 %214900 CHOLESTASIS-LYMPHEDEMA SYNDROME Gene map locus 15q #214800 CHARGE SYNDROME Gene map locus 8q12.1, 7q21.1 #214700 DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL Gene map locus 7q22-q31.1 #214500 CHEDIAK-HIGASHI SYNDROME; CHS Gene map locus 1q42.1-q42.2 #214450 GRISCELLI SYNDROME, TYPE 1; GS1 Gene map locus 15q21 #214400 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A Gene map locus 8q13-q21.1 %214370 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS 214350 CHANDS %214300 KLIPPEL-FEIL SYNDROME, AUTOSOMAL RECESSIVE Gene map locus 5q11.2 214290 CERVICAL VERTEBRAE, AGENESIS OF 214200 CEROID STORAGE DISEASE #214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Gene map locus 10q11 %214110 CEREBROHEPATORENAL SYNDROME, VARIANT TYPES #214100 ZELLWEGER SYNDROME; ZS Gene map locus 1p36.2, 1q22, 12p13.3, 7q21-q22, 6q23-q24, 2p15, Chr.1, 22q11.21 %213980 CEREBROFACIOTHORACIC DYSPLASIA 213950 CEREBROCORTICAL DEGENERATION OF INFANCY 213900 CEREBRAL SCLEROSIS SIMILAR TO PELIZAEUS-MERZBACHER DISEASE 213820 CEREBRAL MALFORMATION, SEIZURES, HYPERTRICHOSIS, AND OVERLAPPING FINGERS #213700 CEREBROTENDINOUS XANTHOMATOSIS Gene map locus 2q33-qter %213600 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1 Gene map locus 14q 213500 CEREBRAL ANGIOPATHY, DYSPHORIC 213400 CEREBELLOPARENCHYMAL DISORDER V; CPD5 %213300 JOUBERT SYNDROME 1; JBTS1 Gene map locus 9q34.3 %213200 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2 Gene map locus 9q34-qter %213100 CEREBELLOPARENCHYMAL DISORDER II; CPD2 213010 CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZ SYNDROME AND MECKEL SYNDROME 213002 CEREBELLAR HYPOPLASIA WITH ENDOSTEAL SCLEROSIS %213000 CEREBELLAR HYPOPLASIA 212900 CEREBELLAR ATAXIA, INFANTILE, WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA %212895 CEREBELLAR ATAXIA, EARLY-ONSET, WITH RETAINED TENDON REFLEXES; EOCA 212890 CEREBELLAR ATAXIA, BENIGN, WITH THERMOANALGESIA 212850 CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS %212840 CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM GORDON HOLMES SYNDROME, INCLUDED 212835 CEREBELLAR ATAXIA AND ECTODERMAL DYSPLASIA 212800 CEPHALIN LIPIDOSIS %212790 PREMATURE CENTROMERE DIVISION; PCD %212780 CENANI SYNDACTYLISM #212750 CELIAC DISEASE; CD CELIAC DISEASE, SUSCEPTIBILITY TO, 1, INCLUDED; CELIAC1, INCLUDED Gene map locus 6p21.3, 6p21.3 #212720 MARTSOLF SYNDROME Gene map locus 1q41 212710 CATARACT-ATAXIA-DEAFNESS-RETARDATION SYNDROME #212550 MICROPHTHALMIA, ISOLATED, WITH CATARACT 2; MCOPCT2 Gene map locus 14q23 212540 CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME CATARACT, MICROCEPHALY, ARTHROGRYPOSIS, KYPHOSIS SYNDROME, INCLUDED %212500 CATARACT, CONGENITAL OR JUVENILE CATARACT, JUVENILE, HUTTERITE TYPE, INCLUDED %212400 CATARACT AND CONGENITAL ICHTHYOSIS 212360 CATARACT-ALOPECIA-SCLERODACTYLY SYNDROME; CASS %212350 CATARACT AND CARDIOMYOPATHY %212200 CARNOSINEMIA Gene map locus 18q21.3 %212160 CARNITINE DEFICIENCY, MYOPATHIC #212140 CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP Gene map locus 5q31.1 212135 CARDIOSKELETAL SYNDROME, KUWAITI TYPE %212130 CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH 212120 CARDIOGENITAL SYNDROME 212112 CARDIOMYOPATHY, CONGESTIVE, WITH HYPERGONADOTROPIC HYPOGONADISM 212110 CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE 212100 CARDIOAUDITORY SYNDROME OF SANCHEZ CASCOS 212093 CARDIAC VALVULAR DEFECT, DEVELOPMENTAL 212090 CARDIAC SEPTAL DEFECTS WITH COARCTATION OF THE AORTA 212080 CARDIAC LIPIDOSIS, FAMILIAL #212070 CARBOXYPEPTIDASE N DEFICIENCY Gene map locus 10q24.2 212067 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx #212066 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A Gene map locus 14q21 #212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A Gene map locus 16p13.3-p13.2 212060 CARBIMAZOLE SENSITIVITY %212050 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE 211990 CAMPTOMELIC SYNDROME, LONG-LIMB TYPE #211980 LUNG CANCER ALVEOLAR CELL CARCINOMA, INCLUDED Gene map locus 19q13.2, 17q21.1, 12p12.1, 11q22-q24, 11p15.5, 10q11, 10p11.2, 7q34, 7p12.3-p12.1, 6q25.2-q27, 3q26.3, 3p21.3, 3p22-p21.3, 2q33 211965 CAMPTODACTYLY-ICHTHYOSIS SYNDROME %211960 CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMAL PALMAR CREASES 211930 CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA 211920 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE II 211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I; GCS1 #211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC Gene map locus 13q12, 12p13.3, 2q24-q31 %211890 CAMPOMELIA, CUMMING TYPE 211800 CALCIFICATION OF JOINTS AND ARTERIES 211770 CAHMR SYNDROME #211750 C SYNDROME Gene map locus 3q13.13 #211600 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1 Gene map locus 18q21 %211530 BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS %211500 BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD 211480 BUERGER DISEASE 211450 BRONCHOMALACIA %211420 BREAST CANCER, DUCTAL, 2; BRCD2 Gene map locus 1p36 %211410 BREAST CANCER, DUCTAL, 1; BRCD1 Gene map locus Chr.13 211400 BRONCHIECTASIS %211390 SABINAS BRITTLE HAIR SYNDROME 211380 BRACHIOSKELETOGENITAL SYNDROME 211370 BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM 211369 BRACHYDACTYLY, TYPE A2, WITH MICROCEPHALY 211355 BOWING OF LONG BONES, ASYMMETRIC AND SYMMETRIC %211350 KYPHOMELIC DYSPLASIA 211200 BOWEN SYNDROME OF MULTIPLE MALFORMATIONS %211180 BOWEN-CONRADI SYNDROME; BWCNS Gene map locus 12p13.3 %211170 BORRONE DERMATOCARDIOSKELETAL SYNDROME 211120 BONE DYSPLASIA, LETHAL, HOLMGREN TYPE 211000 BLUE DIAPER SYNDROME #210900 BLOOM SYNDROME; BLM Gene map locus 15q26.1 #210750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6; SHEP6 Gene map locus 14q32 %210745 BLEPHAROPHIMOSIS WITH PTOSIS, SYNDACTYLY, AND SHORT STATURE 210740 BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN-RESISTANT DIABETES, GOITER, AND PRIMARY GONADAL INSUFFICIENCY %210730 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III #210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II %210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I Gene map locus 2q14.2-q14.3 210700 BIRD-HEADED DWARFISM, MONTREAL TYPE #210600 SECKEL SYNDROME 1 Gene map locus 3q22-q24 210550 BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY 210500 BILIARY ATRESIA, EXTRAHEPATIC; EHBA 210450 BILE ACID, SYNTHETIC DEFECT OF 210400 BIFID NOSE #210370 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY Gene map locus 4q35.1 210350 BIEMOND SYNDROME II #210250 SITOSTEROLEMIA Gene map locus 2p21, 2p21 #210210 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY Gene map locus 5q12-q13 #210200 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY Gene map locus 3q25-q27 %210100 BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF 210050 BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION %210000 BEHR SYNDROME 209970 BEEMER LETHAL MALFORMATION SYNDROME #209950 ATYPICAL MYCOBACTERIOSIS, FAMILIAL BCG INFECTION, GENERALIZED FAMILIAL, INCLUDED Gene map locus 19p13.1, 6q23-q24, 5q31.1-q33.1, 2q32.2-q32.3, 21q22.1-q22.2 #209920 BARE LYMPHOCYTE SYNDROME, TYPE II BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A, INCLUDED Gene map locus 19p12, 16p13, 13q14, 1q21.1-q21.3 #209900 BARDET-BIEDL SYNDROME; BBS BARDET-BIEDL SYNDROME 1, INCLUDED; BBS1, INCLUDED Gene map locus 20p12, 17q23, 16q21, 15q22.3-q23, 14q32.1, 12q21.3, 12q21.2, 11q13, 9q31-q34.1, 8q21.13-q22.1, 7p14, 4q27, 4q27, 3p12-q13, 2q31 209885 BARBER-SAY SYNDROME #209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF ONDINE-HIRSCHSPRUNG DISEASE, INCLUDED; OHD, INCLUDED Gene map locus 20q13.2-q13.3, 12q22-q23, 11p13, 10q11.2, 5p13.1-p12, 4p12 %209850 AUTISM AUTISM SPECTRUM DISORDER, INCLUDED Gene map locus 7q22, 6p21.3-p21.2, 2q32 209800 AUSTRALIA ANTIGEN 209770 AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION 209700 ATROPHODERMIA VERMICULATA 209600 ATRIOVENTRICULAR DISSOCIATION #209500 ATRICHIA WITH PAPULAR LESIONS; APL Gene map locus 8p21.2 #209300 ATRANSFERRINEMIA Gene map locus 3q21 %209100 ATONIC-ASTATIC SYNDROME OF FOERSTER 209050 ATHROMBIA, ESSENTIAL 209010 ATHEROSCLEROSIS, PREMATURE, WITH DEAFNESS, NEPHROPATHY, DIABETES MELLITUS, PHOTOMYOCLONUS, AND DEGENERATIVE NEUROLOGIC DISEASE 209000 ATAXIC DIPLEGIA WITH DEFECTIVE CELLULAR IMMUNITY #208920 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA, INCLUDED Gene map locus 9p13.3 208910 ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLY DEATH #208900 ATAXIA-TELANGIECTASIA; AT AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED Gene map locus 11q22.3 208870 ATAXIA-MICROCEPHALY-CATARACT SYNDROME 208850 ATAXIA-DEAFNESS-RETARDATION SYNDROME %208750 ATAXIA, DEAFNESS, AND CARDIOMYOPATHY 208700 ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA 208600 ASTHMA, SHORT STATURE, AND ELEVATED IgA #208550 ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO, INCLUDED Gene map locus 17q21.3, 14q22 #208540 RENAL-HEPATIC-PANCREATIC DYSPLASIA; RHPD RENAL-HEPATIC-PANCREATIC DYSPLASIA WITH DANDY-WALKER CYST, INCLUDED Gene map locus 3q22 %208530 ASPLENIA WITH CARDIOVASCULAR ANOMALIES POLYSPLENIA SYNDROME, INCLUDED %208500 ASPHYXIATING THORACIC DYSTROPHY 1; ATD1 Gene map locus 15q13 208300 ASCITES, CHYLOUS #208250 CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME; CACP Gene map locus 1q24-q25 #208230 ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD; PPAC Gene map locus 6q22-q23 %208200 ARTHROGRYPOSIS-LIKE DISORDER 208158 ARTHROGRYPOSIS WITH HYPERKERATOSIS 208155 ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE #208150 FETAL AKINESIA DEFORMATION SEQUENCE; FADS Gene map locus 11p11.2-p11.1 %208100 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE; AMCN Gene map locus 5q35 #208085 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Gene map locus 15q26.1 208081 ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTIC FACIES 208080 ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION, AND FACIAL ANOMALIES %208060 ARTERIOSCLEROSIS, SEVERE JUVENILE #208050 ARTERIAL TORTUOSITY SYNDROME; ATS Gene map locus 20q13.1 #208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY; GACI CORONARY SCLEROSIS, MEDIAL, OF INFANCY, INCLUDED Gene map locus 6q22-q23 %207950 CHIARI MALFORMATION TYPE II #207900 ARGININOSUCCINIC ACIDURIA Gene map locus 7cen-q11.2 #207800 ARGININEMIA Gene map locus 6q23 207790 ARACHNOID CYSTS, INTRACRANIAL 207780 AREDYLD 207770 APROSENCEPHALY SYNDROME 207765 APPARENT MINERALOCORTICOID EXCESS, TYPE 2; AME2 #207750 APOLIPOPROTEIN C-II DEFICIENCY Gene map locus 19q13.2 207740 APLASIA OF EXTENSOR MUSCLES OF FINGERS, UNILATERAL, WITH GENERALIZED POLYNEUROPATHY 207731 APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA 207720 APNEA, CENTRAL SLEEP 207620 APHALANGY WITH HEMIVERTEBRAE 207600 TAKAYASU ARTERITIS 207500 ANUS, IMPERFORATE #207410 ANTLEY-BIXLER SYNDROME; ABS Gene map locus 10q26 207300 ANTITHROMBIN, FAMILIAL HEMORRHAGIC DIATHESIS DUE TO 207000 ANOSMIA FOR ISOBUTYRIC ACID %206920 MICROPHTHALMIA WITH LIMB ANOMALIES #206900 MICROPHTHALMIA, SYNDROMIC 3; MCOPS3 OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, INCLUDED Gene map locus 3q26.3-q27 #206800 ANONYCHIA CONGENITA Gene map locus 20p13 %206780 ANODONTIA OF PERMANENT DENTITION 206750 ANIRIDIA, PARTIAL, WITH UNILATERAL RENAL AGENESIS AND PSYCHOMOTOR RETARDATION %206700 ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY 206600 ANHIDROSIS %206570 ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT 206550 ANGIOLIPOMATOSIS, FAMILIAL %206500 ANENCEPHALY 206400 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, POSSIBLY DUE TO DEFECT IN PORPHYRIN METABOLISM 206300 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, ASSOCIATED WITH ABNORMALITY OF RED CELL MEMBRANE #206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA Gene map locus 22q12-q13 #206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD Gene map locus 12q13 206000 ANEMIA, FAMILIAL PYRIDOXINE-RESPONSIVE 205950 ANEMIA, CONGENITAL SIDEROBLASTIC, B6-NONRESPONSIVE 205700 ANEMIA, AUTOIMMUNE HEMOLYTIC #205400 TANGIER DISEASE; TGD Gene map locus 9q22-q31 205250 AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES %205200 AMYOTROPHIC LATERAL SCLEROSIS, JUVENILE, WITH DEMENTIA #205100 AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2 Gene map locus 2q33 #205000 AMYOTONIA CONGENITA 204900 AMYLOIDOSIS, CUTANEOUS BULLOUS #204870 CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE Gene map locus 1p32 204850 AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION %204800 AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF 204750 AMINOADIPIC ACIDURIA 204730 AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY, OSTEOPOROSIS, AND ACIDOSIS #204700 AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE Gene map locus 19q13.4, 11q22.3-q23 204690 AMELOGENESIS IMPERFECTA, TYPE IG; AI1G #204650 AMELOGENESIS IMPERFECTA, TYPE IC; AI1C #204500 CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, INCLUDED; LINCL, INCLUDED Gene map locus 11p15.5 %204300 CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A #204200 CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 Gene map locus 16p12.1 204110 AMAUROSIS CONGENITA, CONE-ROD TYPE, WITH CONGENITAL HYPERTRICHOSIS #204100 LEBER CONGENITAL AMAUROSIS, TYPE II; LCA2 Gene map locus 1p31 #204000 LEBER CONGENITAL AMAUROSIS, TYPE I; LCA1 Gene map locus 17p13.1 #203800 ALSTROM SYNDROME; ALMS Gene map locus 2p13 #203780 ALPORT SYNDROME, AUTOSOMAL RECESSIVE Gene map locus 2q36-q37, 2q36-q37 203760 ALPHA-2-DEFICIENT COLLAGEN DISEASE #203750 ALPHA-METHYLACETOACETIC ACIDURIA Gene map locus 11q22.3-q23.1 #203700 ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS Gene map locus 15q25 #203655 ALOPECIA UNIVERSALIS CONGENITA; ALUNC Gene map locus 8p21.2 %203650 ALOPECIA-MENTAL RETARDATION SYNDROME 1 Gene map locus 3q26.3-q27.3 203600 ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHAN 203550 ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME #203500 ALKAPTONURIA Gene map locus 3q21-q23 #203450 ALEXANDER DISEASE Gene map locus 17q21, 11q13 #203400 CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY Gene map locus 8q21 203340 ALBINISM-MICROCEPHALY-DIGITAL ANOMALIES SYNDROME %203330 PSEUDOHYPOPARATHYROIDISM, TYPE II #203300 HERMANSKY-PUDLAK SYNDROME; HPS Gene map locus 19q13, 11p15-p13, 10q24.32, 10q23.1, 6p22.3, 3q24, 22q11.2-q12.2 #203290 ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3 Gene map locus 9p23 #203200 ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2 ALBINISM, BROWN OCULOCUTANEOUS, INCLUDED; BOCA, INCLUDED Gene map locus 16q24.3, 15q11.2-q12 #203100 ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A Gene map locus 11q14-q21 203000 FRONTONASAL DYSPLASIA WITH ALAR CLEFTS 202900 ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETES MELLITUS #202700 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1; SCN1 Gene map locus 19p13.3, 1p22 202660 AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS %202650 DYSGNATHIA COMPLEX 202600 AGENESIS OF CEREBRAL WHITE MATTER 202550 AGANGLIONOSIS, TOTAL INTESTINAL #202400 AFIBRINOGENEMIA, CONGENITAL HYPOFIBRINOGENEMIA, CONGENITAL, INCLUDED Gene map locus 4q28, 4q28 #202370 ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM Gene map locus 12p13.3, 7q21-q22, 2p15, Chr.1, 22q11.21 202355 ADRENOCORTICAL UNRESPONSIVENESS TO ACTH WITH POSTRECEPTOR DEFECT #202300 ADRENOCORTICAL CARCINOMA, HEREDITARY; ADCC ADRENOCORTICAL CARCINOMA, PEDIATRIC, INCLUDED Gene map locus 17p13.1, 11p15.5 #202200 GLUCOCORTICOID DEFICIENCY 1; GCCD1 Gene map locus 18p11.2 202155 ADRENAL HYPOPLASIA, CYTOMEGALIC TYPE 202150 ADRENAL HYPOPLASIA, CONGENITAL, WITH ABSENT PITUITARY LUTEINIZING HORMONE #202110 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY 17,20-@LYASE DEFICIENCY, ISOLATED, INCLUDED Gene map locus 10q24.3 #202010 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY Gene map locus 8q21 #201750 POR DEFICIENCY Gene map locus 7q11.2 #201710 LIPOID CONGENITAL ADRENAL HYPERPLASIA Gene map locus 15q23-q24, 8p11.2 %201550 ADDUCTED THUMBS SYNDROME #201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF Gene map locus 17p13 #201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF Gene map locus 12q22-qter #201460 ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF Gene map locus 2q34-q35 #201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF Gene map locus 1p31 #201400 ACTH DEFICIENCY Gene map locus 1q23-q24, 8q13 201310 ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE #201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II; HSAN2 Gene map locus 12p13.33 #201250 ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE Gene map locus 20q11.2 201200 ACROGERIA, GOTTRON TYPE 201180 ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME 201170 ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ #201100 ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ Gene map locus 8q24.3 201050 ACROCRANIOFACIAL DYSOSTOSIS 201020 ACROCEPHALOPOLYSYNDACTYLY TYPE IV #201000 CARPENTER SYNDROME Gene map locus 6p11 200995 ACROCEPHALOPOLYDACTYLOUS DYSPLASIA #200990 ACROCALLOSAL SYNDROME; ACLS Gene map locus 7p13 200980 ACRORENAL-MANDIBULAR SYNDROME 200970 ACKERMAN SYNDROME #200950 ACID PHOSPHATASE DEFICIENCY Gene map locus 11p12-p11 200900 ACHONDROPLASIA, SO-CALLED, AND SEVERE COMBINED IMMUNODEFICIENCY 200720 ACHONDROGENESIS, TYPE IV 200710 ACHONDROGENESIS, TYPE III #200700 CHONDRODYSPLASIA, GREBE TYPE Gene map locus 20q11.2 #200610 ACHONDROGENESIS, TYPE II; ACG2 Gene map locus 12q13.11-q13.2 %200600 ACHONDROGENESIS, TYPE IA; ACG1A #200500 ACHEIROPODY Gene map locus 7q36 200450 ACHALASIA-MICROCEPHALY SYNDROME %200400 ACHALASIA, FAMILIAL ESOPHAGEAL 200300 ACETOPHENETIDIN SENSITIVITY 200170 ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT #200150 CHOREOACANTHOCYTOSIS; CHAC Gene map locus 9q21 200130 ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATION 200110 ABLEPHARON-MACROSTOMIA SYNDROME #200100 ABETALIPOPROTEINEMIA; ABL Gene map locus 4q22-q24 %194470 ZINC, ELEVATED PLASMA HYPERZINCEMIA AND HYPERCALPROTECTINEMIA, INCLUDED Gene map locus 4q11-q13 194400 XERODERMA PIGMENTOSUM, AUTOSOMAL DOMINANT, MILD %194380 DEHYDRATED HEREDITARY STOMATOCYTOSIS; DHS Gene map locus 16q23-q24 194370 X-RAY SENSITIVITY; XRS Gene map locus 13q14 %194350 WT LIMB-BLOOD SYNDROME 194320 WORONETS TRAIT %194300 WOOLLY HAIR, AUTOSOMAL DOMINANT #194200 WOLFF-PARKINSON-WHITE SYNDROME PREEXCITATION SYNDROME, INCLUDED Gene map locus 7q36 #194190 WOLF-HIRSCHHORN SYNDROME; WHS WOLF-HIRSCHHORN CHROMOSOME REGION, INCLUDED; WHCR, INCLUDED; WHSCR, INCLUDED 194100 WISDOM TEETH, ABSENCE OF %194090 WILMS TUMOR 3; WT3 Gene map locus 16q #194080 DENYS-DRASH SYNDROME; DDS Gene map locus 11p13 #194072 WAGR SYNDROME WAGR SYNDROME WITH OBESITY, INCLUDED; WAGRO, INCLUDED Gene map locus 11p13 %194071 MULTIPLE TUMOR-ASSOCIATED CHROMOSOME REGION 1; MTACR1 Gene map locus 11p15.5 #194070 WILMS TUMOR 1; WT1 Gene map locus 13q12.3, 11p13, Xq26 #194050 WILLIAMS-BEUREN SYNDROME; WBS HYPERCALCEMIA, INFANTILE, INCLUDED Gene map locus 7q11.23, 7q11.23 194000 WIDOW'S PEAK #193900 WHITE SPONGE NEVUS OF CANNON Gene map locus 17q21-q22, 12q13 #193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Gene map locus 17p13.1 193680 WHISPERING DYSPHONIA, HEREDITARY #193670 WHIM SYNDROME Gene map locus 2q21 #193530 WEYERS ACROFACIAL DYSOSTOSIS CURRY-HALL SYNDROME, INCLUDED Gene map locus 4p16 #193520 WATSON SYNDROME Gene map locus 17q11.2 #193510 WAARDENBURG SYNDROME, TYPE IIA; WS2A WS2 Gene map locus 3p14.1-p12.3 #193500 WAARDENBURG SYNDROME, TYPE I; WS1 Gene map locus 2q35 193450 VULVOVAGINITIS, ALLERGIC SEMINAL #193300 VON HIPPEL-LINDAU SYNDROME; VHL VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF, INCLUDED Gene map locus 11q13, 3p26-p25 %193250 VOLVULUS OF MIDGUT 193240 VOCAL CORD PARALYSIS AND PTOSIS %193235 VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY; VRNI Gene map locus 11q13 #193230 VITREORETINAL DEGENERATION, SNOWFLAKE TYPE; SVD Gene map locus 2q37 %193220 VITREORETINOCHOROIDOPATHY; VRCP #193200 VITILIGO VTLG Gene map locus 6p21.3 #193100 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR Gene map locus 12p13.3 %193090 TRANSCOBALAMIN I DEFICIENCY TRANSCOBALAMIN I DEFICIENCY WITH LACTOFERRIN DEFICIENCY, INCLUDED 193070 VIRUS RD114 RNA COMPLEMENTARITY 193050 VIBRATORY ANGIOEDEMA %193007 VESTIBULOPATHY, FAMILIAL Gene map locus 6q 193005 VESTIBULOCOCHLEAR DYSFUNCTION, PROGRESSIVE %193003 NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT; NYS4 Gene map locus 13q31-q22 %193000 VESICOURETERAL REFLUX 1; VUR1 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, INCLUDED; CAKUT, INCLUDED Gene map locus 1p13 #192950 VERTICAL TALUS, CONGENITAL; CVT Gene map locus 2q31-q32 %192900 VERTEBRAL HYPOPLASIA WITH LUMBAR KYPHOSIS 192800 VERTEBRAL FUSION, POSTERIOR LUMBOSACRAL, WITH BLEPHAROPTOSIS 192700 VENULAR INSUFFICIENCY, SYSTEMIC #192605 VENTRICULAR TACHYCARDIA, FAMILIAL Gene map locus 3p21 #192600 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1, INCLUDED; CMH1, INCLUDED Gene map locus 14q12, 14q12, 3p21.3-p14.3, 3p25, 20q13.3 #192500 LONG QT SYNDROME 1; LQT1 LONG QT SYNDROME 1/2, INCLUDED; LQT1/2, INCLUDED Gene map locus 11p15.5 192445 VENTRICULAR EXTRASYSTOLES WITH SYNCOPE, PERODACTYLY, AND ROBIN SEQUENCE #192430 VELOCARDIOFACIAL SYNDROME Gene map locus 22q11.2 192400 VEINS, PATTERN OF, ON ANTERIOR THORAX 192350 VATER ASSOCIATION VACTERL ASSOCIATION, INCLUDED #192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY Gene map locus 3p21.3-p21.2 192310 VASCULITIS, LYMPHOCYTIC, NODULAR 192300 VASCULAR HELIX OF UMBILICAL CORD 192200 VARICOSE VEINS 192100 UVULA, BIFID %192070 UV DAMAGE, EXCISION REPAIR OF, UV-24 Gene map locus Chr.2 192050 UTERUS BICORNIS BICOLLIS WITH PARTIAL VAGINAL SEPTUM AND UNILATERAL HEMATOCOLPOS WITH IPSILATERAL RENAL AGENESIS 192000 UTERINE ANOMALIES 191950 URTICARIA, FAMILIAL LOCALIZED HEAT #191900 MUCKLE-WELLS SYNDROME Gene map locus 1q44 191850 URTICARIA, AQUAGENIC #191830 RENAL ADYSPLASIA UROGENITAL ADYSPLASIA, INCLUDED Gene map locus 10q11.2, 22q13.31 191800 URINARY BLADDER, ATONY OF 191700 URIC ACID UROLITHIASIS 191650 URETEROCELE 191600 URETER, CANCER OF %191550 URETER, BIFID OR DOUBLE 191540 URATE OXIDASE; UOX Gene map locus 1p22 %191530 URATE-BINDING GLOBULIN, DECREASE IN %191520 UPINGTON DISEASE %191500 UNDRITZ ANOMALY 191482 UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, AND BRACHYDACTYLY %191480 UNCOMBABLE HAIR SYNDROME %191440 ULNAR HYPOPLASIA 191420 ULNA METAPHYSEAL DYSPLASIA SYNDROME 191400 ULNA AND FIBULA, HYPOPLASIA OF #191390 ULCERATIVE COLITIS, SUSCEPTIBILITY TO Gene map locus 7q22 191270 TYROSINASE-LIKE; TYRL Gene map locus 11p11.2 191250 TWINNING DUE TO SUPERFETATION %191200 TUNE DEAFNESS %191181 SUPPRESSOR OF TUMORIGENICITY 3; ST3 Gene map locus 11q13 191150 TUFTSIN DEFICIENCY #191100 TUBEROUS SCLEROSIS; TS TUBEROUS SCLEROSIS 1, INCLUDED Gene map locus 16p13.3, 12q14, 9q34 191091 TUBEROUS SCLEROSIS 3; TSC3 191090 TUBEROUS SCLEROSIS 4 191000 TROCHLEA OF THE HUMERUS, APLASIA OF 190800 TRISTICHIASIS #190685 DOWN SYNDROME TRISOMY 21, INCLUDED Gene map locus Xp11.23, 21q22.3, 1q43 %190680 TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY 190650 TRIPHALANGEAL THUMBS AND DISLOCATION OF PATELLA %190600 TRIPHALANGEAL THUMB, NONOPPOSABLE 190500 TRIPHALANGEAL THUMB WITH DOUBLE PHALANGES 190445 TRIIODOTHYRONINE RECEPTOR AUXILIARY PROTEIN; TRAP #190440 TRIGONOCEPHALY, NONSYNDROMIC 190430 TRIGLYCERIDE STORAGE DISEASE, TYPE II 190420 TRIGLYCERIDE STORAGE DISEASE, TYPE I 190410 TRIGGER THUMB 190400 TRIGEMINAL NEURALGIA 190360 TRICHODYSPLASIA-XERODERMA #190351 TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3 Gene map locus 8q24.12 #190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Gene map locus 8q24.12 190345 TRICHOEPITHELIOMAS, MULTIPLE DESMOPLASTIC 190340 TRICHODISCOMAS, FAMILIAL MULTIPLE 190330 TRICHOMEGALY #190320 TRICHODENTOOSSEOUS SYNDROME Gene map locus 17q21.3-q22 %190310 TREMOR, NYSTAGMUS, AND DUODENAL ULCER #190300 TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 Gene map locus 3q13.3 190200 TREMOR OF INTENTION, ATAXIA, AND LIPOFUSCINOSIS %190100 GENIOSPASM 1; GSM1 Gene map locus 9q13-q21 189961 TRACHEOPATHIA OSTEOPLASTICA 189960 TRACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA %189800 PREECLAMPSIA/ECLAMPSIA 1; PEE1 HYPERTENSION, PREGNANCY-INDUCED, INCLUDED Gene map locus 1q42.1, 7q36, 2p13 %189700 TORUS PALATINUS AND TORUS MANDIBULARIS 189600 TORTICOLLIS #189500 WITKOP SYNDROME Gene map locus 4p16.1 189490 TOOTH MALFORMATION 189300 TONGUE CURLING, FOLDING, OR ROLLING CLOVERLEAF TONGUE, INCLUDED 189230 TOES, SPACE BETWEEN FIRST AND SECOND 189200 TOES, RELATIVE LENGTH OF FIRST AND SECOND 189150 TOE, ROTATED FIFTH 189100 TOE, MISSHAPEN 189000 TOE, FIFTH, NUMBER OF PHALANGES IN #188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO Gene map locus 20q13.2-q13.3, 19q13.2, 9q22.1, 5p15.3 %188800 TIBIAL TORSION, BILATERAL MEDIAL %188770 TIBIA, HYPOPLASIA OF, WITH POLYDACTYLY 188740 TIBIA, ABSENCE OF, WITH POLYDACTYLY 188700 TIBIA VARA 188600 THYROXINE-BINDING GLOBULIN OF SERUM #188580 THYROTOXIC PERIODIC PARALYSIS HASHITOXIC PERIODIC PARALYSIS, INCLUDED Gene map locus 1q32 #188570 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH Gene map locus 3p24.3 188560 THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT #188550 THYROID CARCINOMA, PAPILLARY Gene map locus 17q23-q24, 14q, 10q21, 10q11.2, 1p13, 8p22-p21.3, 7q32-q34 188470 THYROID CARCINOMA, FOLLICULAR; FTC Gene map locus 11p15.5, 10q23.31, 10q23, 1p13.2 188455 THYROGLOSSAL DUCT CYST, FAMILIAL #188400 DIGEORGE SYNDROME; DGS DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED Gene map locus 22q11.2 188201 THUMBS, STIFF, WITH BRACHYDACTYLY TYPE A1 AND DEVELOPMENTAL DELAY 188200 THUMBNAILS, ABSENT 188150 THUMB DEFORMITY AND ALOPECIA 188100 THUMB DEFORMITY #188055 THROMBOPHILIA DUE TO DEFICIENCY OF ACTIVATED PROTEIN C COFACTOR #188050 THROMBOPHILIA VENOUS THROMBOEMBOLISM, INCLUDED Gene map locus 10q25-q26 188030 THROMBOCYTOPENIC PURPURA, AUTOIMMUNE; AITP #188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT Gene map locus 11q23 188020 THROMBOCYTOPENIA, CYCLIC #188000 THROMBOCYTOPENIA 2; THC2 Gene map locus 10p12.1 #187950 THROMBOCYTHEMIA, ESSENTIAL Gene map locus 9p24, 1p34, 3q26.3-q27 187940 THROMBOCYTE B; THB %187900 THROMBASTHENIA-THROMBOCYTOPENIA, HEREDITARY 187800 GLANZMANN THROMBASTHENIA, AUTOSOMAL DOMINANT 187770 THORACOPELVIC DYSOSTOSIS 187760 THORACOLARYNGOPELVIC DYSPLASIA; TLPD 187750 THORACIC DYSOSTOSIS, ISOLATED %187650 THEOPHYLLINE BIOTRANSFORMATION #187601 THANATOPHORIC DYSPLASIA, TYPE II; TD2 #187600 THANATOPHORIC DYSPLASIA, TYPE I; TD1 Gene map locus 4p16.3 187550 THALASSEMIA, BETA+, SILENT ALLELE 187510 TETRAMELIC MONODACTYLY 187501 TETRALOGY OF FALLOT AND GLAUCOMA #187500 TETRALOGY OF FALLOT Gene map locus 20p12, 19p12, 8q23, 5q34 187400 TESTICULAR TORSION 187390 TENDONS, EXTENSOR, OF FINGERS, ANOMALOUS INSERTION OF %187370 ARTHROGRYPOSIS, DISTAL, TYPE 10; DA10 187360 TEMPORAL ARTERITIS 187350 TELECANTHUS 187340 TEMPERATURE-SENSITIVE LETHAL MUTATION %187330 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts546; TS546 Gene map locus Chr.6 %187320 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, ts13; TS13 Gene map locus Chr.4 %187310 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, K12 Gene map locus Chr.14 #187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT Gene map locus 9q34.1 %187290 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, H142; H142T Gene map locus Chr.9 %187280 TEMPERATURE SENSITIVITY COMPLEMENTATION, CELL CYCLE SPECIFIC, tsBN51; BN51T Gene map locus 8q21 %187260 TELANGIECTASIA, HEREDITARY BENIGN 187100 TEETH, SUPERNUMERARY 187050 TEETH PRESENT AT BIRTH 187030 T-COMPLEX LOCUS TCP10B; TCP10B %187000 TEETH, ODD SHAPES OF LOBODONTIA, INCLUDED 186950 T-CELL SUBGROUPS, NON-HLA-LINKED %186890 TEAR PROTEIN, ANODAL %186850 TARSAL FUSION 186750 TALONAVICULAR COALITION %186700 SYRINGOMYELIA, ISOLATED 186600 SYRINGOMAS, MULTIPLE #186580 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES Gene map locus 16q12 186575 SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM #186570 TARSAL-CARPAL COALITION SYNDROME; TCC SYNOSTOSIS OF TALUS AND CALCANEUS WITH SHORT STATURE, INCLUDED Gene map locus 17q22 %186550 SYNOSTOSIS, CARPAL, WITH DYSPLASTIC ELBOW JOINTS AND BRACHYDACTYLY #186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1 Gene map locus 17q22 %186400 SYNOSTOSES, TARSAL, CARPAL, AND DIGITAL %186350 SYNDACTYLY-POLYDACTYLY-EARLOBE SYNDROME #186300 SYNDACTYLY, TYPE V Gene map locus 2q31-q32 186200 SYNDACTYLY, TYPE IV #186100 SYNDACTYLY, TYPE III Gene map locus 6q21-q23.2 #186000 SYNPOLYDACTYLY 1; SPD1 SYNPOLYDACTYLY WITH FOOT ANOMALIES, INCLUDED Gene map locus 2q31-q32 %185900 SYNDACTYLY, TYPE I Gene map locus 2q34-q36 #185800 SYMPHALANGISM, PROXIMAL; SYM1 Gene map locus 20q11.2, 17q22 185750 SYMPHALANGISM WITH MULTIPLE ANOMALIES OF HANDS AND FEET %185700 SYMPHALANGISM, DISTAL 185650 SYMPHALANGISM, C. S. LEWIS TYPE 185610 SURFACE POLYPEPTIDES, ANONYMOUS 185600 SYMPHALANGISM OF TOES 185540 SURFACE ANTIGEN, GLYCOPROTEIN 75 #185500 SUPRAVALVULAR AORTIC STENOSIS; SVAS Gene map locus 7q11.2 185480 SUPRABULBAR PARESIS, CONGENITAL 185460 SULFHEMOGLOBINEMIA, CONGENITAL 185450 SUBLUXATION OF LENSES, LATE 185400 SUBGLOTTIC BAR 185300 STURGE-WEBER SYNDROME %185200 STRIAE DISTENSAE, FAMILIAL 185120 STRATTON-PARKER SYNDROME %185100 STRABISMUS, SUSCEPTIBILITY TO STRABISMUS, SUSCEPTIBILITY TO, 1, INCLUDED; STBMS1, INCLUDED Gene map locus 7p22.1 185070 STORMORKEN SYNDROME 185069 STORM SYNDROME %185050 STORAGE POOL PLATELET DISEASE 185020 PSEUDOHYPERKALEMIA CARDIFF %185010 STOMATOCYTOSIS II %185000 STOMATOCYTOSIS I Gene map locus 9q34.1 %184900 STIFF SKIN SYNDROME %184850 STIFF-PERSON SYNDROME; SPS PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY, INCLUDED; PERM, INCLUDED; PER, INCLUDED #184840 STICKLER SYNDROME, TYPE III; STL3 Gene map locus 6p21.3 184800 STERNUM, PREMATURE OBLITERATION OF SUTURES OF 184705 STEINFELD SYNDROME %184700 POLYCYSTIC OVARY SYNDROME 1; PCOS1 Gene map locus 5q11.2 184510 STEATOCYSTOMA MULTIPLEX WITH NATAL TEETH #184500 STEATOCYSTOMA MULTIPLEX Gene map locus 17q12-q21 #184460 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES Gene map locus 17q22 %184450 STUTTERING, FAMILIAL PERSISTENT 1; STUT1 Gene map locus 18p11.3-p11.2 %184400 SPRENGEL DEFORMITY 184300 SPONDYLOSIS, CERVICAL 184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA %184255 SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE 184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE %184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE #184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE Gene map locus 12q13.11-q13.2 184200 SPONDYLOLISTHESIS %184100 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT 184095 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE 184000 SPONDYLOEPIPHYSEAL DYSPLASIA, MYOPIA, AND SENSORINEURAL DEAFNESS #183900 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Gene map locus 12q13.11-q13.2 183850 SPONDYLOEPIPHYSEAL DYSPLASIA WITH PUNCTATE CORNEAL DYSTROPHY 183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS %183840 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2 Gene map locus 9q31-q34 183802 SPLIT-HAND WITH OBSTRUCTIVE UROPATHY, SPINA BIFIDA, AND DIAPHRAGMATIC DEFECTS 183800 SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS 183700 SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS %183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1 Gene map locus 7q21.2-q21.3, 2q31 183500 SPLIT-HAND AND SPLIT-FOOT WITH HYPODONTIA 183400 SPLIT LOWER LIP 183350 SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA AND REDUCED CIRCULATING T-HELPER CELLS 183300 SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA 183100 SPINOCEREBELLAR ATROPHY WITH PUPILLARY PARALYSIS #183090 SPINOCEREBELLAR ATAXIA 2; SCA2 Gene map locus 12q24 #183086 SPINOCEREBELLAR ATAXIA 6; SCA6 Gene map locus 19p13 %183050 SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY 183020 SPINAL MUSCULAR ATROPHY, SEGMENTAL %183000 SPINOCEREBELLAR ATAXIA AND PLAQUE-LIKE DEPOSITS 182990 SPINAL INTRADURAL ARACHNOID CYSTS #182980 SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, INCLUDED Gene map locus 20q13.3 %182970 SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE %182960 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I; HMN1 %182950 SPINAL ARACHNOIDITIS #182940 NEURAL TUBE DEFECTS SPINA BIFIDA, INCLUDED Gene map locus 17q11.2-q12, 1p13, 6q27 #182920 MYOPATHY, SPHEROID BODY Gene map locus 5q31 182882 SPERM PROTAMINE P4; PRM4 182875 SPEECH DEVELOPMENT, DELAYED, WITH FACIAL ASYMMETRY, STRABISMUS, AND TRANSVERSE EARLOBE CREASE 182830 SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND DEMENTIA 182820 SPASTIC PARAPLEGIA WITH PRECOCIOUS PUBERTY 182815 SPASTIC PARAPLEGIA WITH NEUROPATHY AND POIKILODERMA 182800 SPASTIC PARAPLEGIA WITH ASSOCIATED EXTRAPYRAMIDAL SIGNS 182690 SPASTIC PARAPLEGIA, SENSORINEURAL DEAFNESS, MENTAL RETARDATION, AND PROGRESSIVE NEPHROPATHY 182610 SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPERM #182601 SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4 Gene map locus 2p22-p21 #182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A Gene map locus 14q11-q21 %182410 SNEDDON SYNDROME 182400 SOMATOMEDIN, EMBRYONIC #182290 SMITH-MAGENIS SYNDROME; SMS SMITH-MAGENIS CHROMOSOME REGION, INCLUDED; SMCR, INCLUDED Gene map locus 17p11.2 %182280 SMALL CELL CANCER OF THE LUNG Gene map locus 3p23-p21 182270 SMELL KETONE COMPOUNDS, ABILITY TO 182269 SMALL PROLINE-RICH PROTEIN 2C; SPRR2C Gene map locus 1q21-q22 182260 SLIPPED FEMORAL CAPITAL EPIPHYSES 182255 SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION %182250 SINGLETON-MERTEN SYNDROME #182230 SEPTOOPTIC DYSPLASIA PITUITARY HORMONE DEFICIENCY, COMBINED, HESX1-RELATED; INCLUDED; CPHD, INCLUDED Gene map locus 3p21.2-p21.1 182220 SISTER CHROMATID EXCHANGE, FREQUENCY OF #182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME Gene map locus 15q21.1 182210 SHPRINTZEN OMPHALOCELE SYNDROME 182200 SELLA TURCICA, BRIDGED 182190 SINUS NODE DISEASE AND MYOPIA 182170 SIDEROBLASTIC ANEMIA WITH ERYTHROCYTE DIMORPHISM 182150 SIMOSA CRANIOFACIAL SYNDROME 182000 KERATOSIS, SEBORRHEIC %181800 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO,; IS1 Gene map locus 19p13.3 %181750 SCLERODERMA, FAMILIAL PROGRESSIVE INCREASED CHROMOSOMAL BREAKAGE RATE OF SCLERODERMA, INCLUDED; CBRS, INCLUDED 181700 SCLEROCORNEA, AUTOSOMAL DOMINANT %181600 SCLEROTYLOSIS Gene map locus 4q23 %181515 SCHOLTE SYNDROME #181510 SCHIZOPHRENIA 1; SCZD1 Gene map locus 5q33.3 #181500 SCHIZOPHRENIA; SCZD Gene map locus 1q42.1, 1q42.1, 1q32.1, 18p, 15q15, 1p36.2, 14q32.3, 13q34, 13q32, 13q14-q21, 12q24, 11q14-q21, 10q22.3, 8p21, 6p22.3, 6p23, 3q13.3, 3p25, 22q12.3, 22q12.3, 22q12.3, 22q11.2, 22q11 %181460 SCHISTOSOMA MANSONI INFECTION, SUSCEPTIBILITY/RESISTANCE TO Gene map locus 5q31-q33 #181450 ULNAR-MAMMARY SYNDROME; UMS ULNAR-MAMMARY SYNDROME OF PALLISTER, INCLUDED Gene map locus 12q24.1 %181440 SCHEUERMANN DISEASE #181430 SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM Gene map locus 14q12 %181405 AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE Gene map locus 12q24.1-q24.31 #181400 SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE Gene map locus 2q35 #181350 EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2 Gene map locus 1q21.2 181300 SCAPULA, CONTOUR OF VERTEBRAL BORDER OF 181270 SCALP-EAR-NIPPLE SYNDROME 181250 SCALP DEFECTS AND POSTAXIAL POLYDACTYLY 181200 SC(1) TRAIT OF SALIVA 181180 SAY SYNDROME #181030 SALIVARY GLAND ADENOMA, PLEOMORPHIC Gene map locus 8q12 181010 SALIVARY DUCT CALCULI #181000 SARCOIDOSIS Gene map locus 6p21.3, 6p21.3 %180950 SALIVARY SUBSTANCE, CLOSTRIDIUM BOTULINUM TYPE 180940 SALIVARY PROTEIN II; SAL-II 180930 SALIVARY PROTEIN I; SAL-I #180920 APLASIA OF LACRIMAL AND SALIVARY GLANDS; ALSG PAROTID APLASIA OR HYPOPLASIA, INCLUDED Gene map locus 5p13-p12 %180900 RUTHERFURD SYNDROME 180870 RUVALCABA SYNDROME %180860 SILVER-RUSSELL SYNDROME; SRS Gene map locus 11p15.5, 7p11.2 #180849 RUBINSTEIN-TAYBI SYNDROME; RSTS Gene map locus 16p13.3, 22q13 #180800 ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA Gene map locus 17p11.2, 1q22 #180750 ROBINOW-SORAUF SYNDROME 180730 ROMBO SYNDROME %180700 ROBINOW SYNDROME, AUTOSOMAL DOMINANT %180600 RINGED HAIR #180550 RING DERMOID OF CORNEA; RDC Gene map locus 4q25-q26 #180500 RIEGER SYNDROME, TYPE 1; RIEG1 Gene map locus 4q25-q26 180360 RHINY 180350 RHEUMATOID NODULOSIS 180330 RHEUMATOID FACTOR IgM IDIOTYPES #180300 RHEUMATOID ARTHRITIS; RA Gene map locus 1p36.13, 1q31-q32, 16p13, 1p13, 6q23, 6p21.3, 6p21.3, 5q31, 2q32.2-q32.3, 21q22.3 %180295 RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2 180270 RETINOSCHISIS, AUTOSOMAL DOMINANT 180210 RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT #180105 RETINITIS PIGMENTOSA 10; RP10 Gene map locus 7q31.3-q32 #180104 RETINITIS PIGMENTOSA 9; RP9 Gene map locus 7p14.2 #180100 RETINITIS PIGMENTOSA 1; RP1 Gene map locus 8q11-q13 180080 RETINAL VENOUS BEADING 180070 RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT %180050 RETINAL DETACHMENT %180020 RETINAL CONE DYSTROPHY 1; RCD1 Gene map locus 6q25-q26 %179900 RETINAL APLASIA #179850 DOWLING-DEGOS DISEASE; DDD Gene map locus 12q13 179840 RETICULAR DYSTROPHY OF RETINAL PIGMENT EPITHELIUM 179830 RENAL TUBULAR ACIDOSIS, PROXIMAL #179800 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT Gene map locus 17q21-q22 179770 RENAL CELL CARCINOMA 3; RCC3 179760 RENAL CELL CARCINOMA 2; RCC2 %179700 RED CELL PHOSPHOLIPID DEFECT WITH HEMOLYSIS %179650 RED CELL PERMEABILITY DEFECT #179620 RAPH BLOOD GROUP SYSTEM Gene map locus 11p15.5 #179613 RECOMBINANT CHROMOSOME 8 SYNDROME %179600 RAYNAUD DISEASE 179500 RAINDROP HYPOPIGMENTATION 179450 RAGWEED SENSITIVITY Gene map locus 6p21.3 179400 RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE 179300 RADIOULNAR SYNOSTOSIS 179280 RADIAL-RENAL SYNDROME 179270 RADIAL RAY HYPOPLASIA WITH CHOANAL ATRESIA 179250 RADIAL HYPOPLASIA, TRIPHALANGEAL THUMBS, HYPOSPADIAS, AND MAXILLARY DIASTEMA %179200 RADIAL HEADS, POSTERIOR DISLOCATION OF #179010 PYLORIC STENOSIS, INFANTILE HYPERTROPHIC 1; IHPS1 Gene map locus 12q24.2-q24.31 179000 PURPURA SIMPLEX 178995 PRURITIC URTICARIAL PAPULES AND PLAQUES OF PREGNANCY; PUPPP 178900 PUPILLARY MEMBRANE, PERSISTENCE OF 178800 PUPIL, EGG-SHAPED 178651 PULMONIC STENOSIS AND DEAFNESS 178650 PULMONIC STENOSIS, ATRIAL SEPTAL DEFECT, AND UNIQUE ELECTROCARDIOGRAPHIC ABNORMALITIES 178610 PULMONARY NODULAR LYMPHOID HYPERPLASIA, FAMILIAL #178600 PULMONARY HYPERTENSION, PRIMARY; PPH1 PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED, INCLUDED Gene map locus 2q33 178550 PULMONARY HEMOSIDEROSIS #178500 PULMONARY FIBROSIS, IDIOPATHIC INTERSTITIAL PNEUMONITIS, USUAL, INCLUDED; UIP, INCLUDED Gene map locus 10q22.2-q23.1, 5p15.33, 4q31.1 178400 PULMONARY EDEMA OF MOUNTAINEERS 178370 PULMONARY ATRESIA WITH VENTRICULAR SEPTAL DEFECT %178350 PUBIC BONE DYSPLASIA 178330 PTOSIS, STRABISMUS, AND ECTOPIC PUPILS %178300 PTOSIS, HEREDITARY CONGENITAL 1; PTOS1 Gene map locus 8q21.12, 1p34.1-p32 %178200 PTERYGIUM, ANTECUBITAL %178110 MULTIPLE PTERYGIUM SYNDROME, AUTOSOMAL DOMINANT 178000 PTERYGIUM OF CONJUNCTIVA AND CORNEA 177990 PTERYGIUM COLLI, ISOLATED #177980 PTERYGIA, MENTAL RETARDATION, AND DISTINCTIVE CRANIOFACIAL FEATURES #177900 PSORIASIS SUSCEPTIBILITY 1; PSORS1 Gene map locus 19p13, 17q25, 1q21, 1p, 6p21.3, 5q31.1-q33.1, 4q31-q34, 4q, 3q21 #177850 PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED Gene map locus 16p13.1 #177820 PSEUDO-VON WILLEBRAND DISEASE Gene map locus 17pter-p12 177800 PSEUDOPAPILLEDEMA %177750 PSEUDOMONILETHRIX #177735 PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT Gene map locus 4q31.1 %177720 PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK PSEUDOHYPERKALEMIA CHISWICK, INCLUDED Gene map locus 16q23-q24 177700 PSEUDOGLAUCOMA #177650 EXFOLIATION SYNDROME; XFS Gene map locus 15q22 177600 PSEUDOCHOLINESTERASE, INCREASE IN PLASMA LEVEL OF 177350 PSEUDOATROPHODERMA COLLI 177300 PSEUDOARTHROGRYPOSIS #177200 LIDDLE SYNDROME Gene map locus 16p13-p12, 16p13-p12 #177170 PSEUDOACHONDROPLASIA; PSACH Gene map locus 19p13.1 177100 PRURITUS, HEREDITARY LOCALIZED %177050 PROTRUSIO ACETABULI %176920 PROTEUS SYNDROME ELATTOPROTEUS SYNDROME, INCLUDED Gene map locus 10q23.31 176900 PROTEOLYTIC CAPACITY OF PLASMA #176807 PROSTATE CANCER Gene map locus 20q13, 19q, 17p11, 16q22.3-q23.1, 1q25, 13q12.3, 11p11.2, 10q25, 10q23.31, 10p15, 8p22, 7q11.23, 7p11-q21, 7p22, 3p26, Xq11-q12, 22q12.3, 22q12.1, 1q42.2-q43 176800 PRONATION-SUPINATION OF THE FOREARM, IMPAIRMENT OF %176780 PELVIC ORGAN PROLAPSE Gene map locus 1q31 176770 PROLINE-NEGATIVE AUXOTROPH OF HAMSTER, COMPLEMENTATION OF; PROA Gene map locus Chr.10 %176700 PROGNATHISM, MANDIBULAR 176690 PROGEROID SHORT STATURE WITH PIGMENTED NEVI 176680 PRIMED LYMPHOCYTE TEST 1; PLT1 Gene map locus 6p21.3 #176670 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS MYOPATHY, EARLY-ONSET, WITH PROGEROID FEATURES, INCLUDED Gene map locus 1q21.2 176630 PRIMARY RELEASE DISORDER OF PLATELETS 176620 PRIAPISM, FAMILIAL IDIOPATHIC 176600 PRESENILE DEMENTIA, KRAEPELIN TYPE #176500 DEMENTIA, FAMILIAL BRITISH; FBD Gene map locus 13q14 #176450 CURRARINO SYNDROME SACRAL AGENESIS SYNDROME, INCLUDED Gene map locus 7q36 #176430 PREMATURE CHROMATID SEPARATION TRAIT; PCS #176410 PRECOCIOUS PUBERTY, MALE-LIMITED TESTIS-STIMULATING FACTOR, INCLUDED Gene map locus 2p21 #176400 PRECOCIOUS PUBERTY, CENTRAL Gene map locus 19p13.3 #176305 PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS Gene map locus 7p15-p14.2 #176270 PRADER-WILLI SYNDROME; PWS PRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED; PWCR, INCLUDED Gene map locus 15q12, 15q11-q13 176250 POSTERIOR COLUMN ATAXIA 176240 POSTAXIAL OLIGODACTYLY, TETRAMELIC #176200 PORPHYRIA VARIEGATA Gene map locus 1q22, 6p21.3 176090 PORPHYRIA CUTANEA TARDA, TYPE I %176010 PORPHYRIA, CHESTER TYPE; PORC Gene map locus 11q23.1 #176000 PORPHYRIA, ACUTE INTERMITTENT PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, INCLUDED Gene map locus 11q23.3 #175900 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1; DSAP1 Gene map locus 12q24.1 %175860 POROKERATOSIS PUNCTATA PALMARIS ET PLANTARIS; PPPP 175850 POROKERATOSIS PLANTARIS, PALMARIS, ET DISSEMINATA %175800 POROKERATOSIS OF MIBELLI #175780 PORENCEPHALY, FAMILIAL Gene map locus 13q34 175750 POPLITEAL CYST #175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS Gene map locus 7p13 %175690 POLYSYNDACTYLY, CROSSED 175510 POLYPS, MULTIPLE AND RECURRENT INFLAMMATORY FIBROID, GASTROINTESTINAL 175505 POLYPOSIS OF GASTRIC FUNDUS WITHOUT POLYPOSIS COLI 175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES 175450 POLYPOSIS, INTESTINAL, WITH MULTIPLE EXOSTOSES 175400 POLYPOSIS, INTESTINAL, SCATTERED AND DISCRETE #175200 PEUTZ-JEGHERS SYNDROME; PJS Gene map locus 19p13.3 #175100 ADENOMATOUS POLYPOSIS OF THE COLON; APC GARDNER SYNDROME, INCLUDED; GS, INCLUDED Gene map locus 5q21-q22 #175050 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT Gene map locus 18q21.1 %175020 POLYPOSIS, GASTRIC #174900 JUVENILE POLYPOSIS SYNDROME; JPS JUVENILE POLYPOSIS OF STOMACH, INCLUDED Gene map locus 18q21.1, 10q22.3 #174810 POLYOSTOTIC OSTEOLYTIC DYSPLASIA, HEREDITARY EXPANSILE; HEPOD Gene map locus 18q22.1 #174800 MCCUNE-ALBRIGHT SYNDROME; MAS POLYOSTOTIC FIBROUS DYSPLASIA, INCLUDED; PFD, INCLUDED; POFD, INCLUDED Gene map locus 20q13.2 %174770 ACTINIC PRURIGO POLYMORPHIC LIGHT ERUPTION, HEREDITARY; HPLE 174750 POLYKARYOCYTOSIS INDUCER; FUSE Gene map locus Chr.10 #174700 POLYDACTYLY, PREAXIAL IV CROSSED POLYDACTYLY, TYPE I, INCLUDED; CP1, INCLUDED Gene map locus 7p13 %174600 POLYDACTYLY, PREAXIAL III #174500 POLYDACTYLY, PREAXIAL II; PPD2 TRIPHALANGEAL THUMB WITH POLYSYNDACTYLY, INCLUDED Gene map locus 7q36 #174400 POLYDACTYLY, PREAXIAL I THENAR HYPOPLASIA, INCLUDED 174310 POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA %174300 OROFACIODIGITAL SYNDROME V; OFD5 #174200 POLYDACTYLY, POSTAXIAL, TYPE A1 POSTAXIAL POLYDACTYLY, TYPE B, INCLUDED; PAPB, INCLUDED Gene map locus 7p13 174100 POLYDACTYLY, IMPERFORATE ANUS, AND VERTEBRAL ANOMALIES #174050 POLYCYSTIC LIVER DISEASE; PCLD Gene map locus 19p13.2-p13.1, 6q21 %174000 MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1 Gene map locus 1q21 #173900 POLYCYSTIC KIDNEYS POLYCYSTIC KIDNEY DISEASE, ADULT, INCLUDED; APKD, INCLUDED Gene map locus 16p13.3-p13.12 %173800 POLAND SYNDROME PECTORALIS MUSCLE, ABSENCE OF, INCLUDED 173700 POIKILODERMA, HEREDITARY SCLEROSING #173650 KINDLER SYNDROME Gene map locus 20p13 #173600 PNEUMOTHORAX, PRIMARY SPONTANEOUS Gene map locus 17p11.2 173590 PLATELET SIGNAL PROCESSING DEFECT 173580 PLATELET RESPONSIVENESS TO ADRENALINE, DEPRESSED 173560 PLATELET MEMBRANE FLUIDITY; PMF %173540 PLATELET GROUPS--Pl(E) SYSTEM 173450 PLATELET FACTOR 3 DEFICIENCY 173420 PLATELET DISORDER, UNDEFINED 173400 PLATELET AGGREGATION, SPONTANEOUS 173395 PLATELET ADENYLATE CYCLASE ACTIVITY %173200 PITYRIASIS RUBRA PILARIS #173100 PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY, AUTOSOMAL DOMINANT Gene map locus 17q22-q24 173000 PILONIDAL SINUS %172900 PIGMENTED PURPURIC ERUPTION 172880 PIERRE ROBIN SYNDROME AND OLIGODACTYLY #172870 PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY; PPCRA Gene map locus 1q31-q32.1 172850 PIEBALD TRAIT WITH NEUROLOGIC DEFECTS #172800 PIEBALD TRAIT; PBT Gene map locus 8q11 #172700 PICK DISEASE OF BRAIN Gene map locus 17q21.1, 14q24.3 172500 PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRAL DYSFUNCTION 172290 PHOSPHOGLYCOPROTEIN 1; PGP1 %172150 6-@PHOSPHOGLUCONOLACTONASE DEFICIENCY 172110 PHOSPHOGLUCOMUTASE 4 171700 ALKALINE PHOSPHATASE, BLOOD GROUP-ASSOCIATED 171660 PHOSPHATASE, ACID, OF TISSUES 171480 PHOCOMELIA-ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA 171450 PHLEBECTASIA OF LIPS 171420 PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME #171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED Gene map locus 10q11.2 #171300 PHEOCHROMOCYTOMA Gene map locus 1p36.2, 11q23, 10q11.2, 5p13.1-p12, 3p26-p25, 1p36.1-p35 #171200 THIOUREA TASTING PHENYLTHIOCARBAMIDE TASTING, INCLUDED Gene map locus 7q35-q36 171100 PHAGOCYTOSIS, PLASMA-RELATED DEFECT IN %171000 PEYRONIE DISEASE 170990 PEROXIDASE, SALIVARY; SAPX 170980 PERONEAL NERVE, ACCESSORY DEEP 170900 PERNICIOUS ANEMIA 170700 PERIPHERAL DYSOSTOSIS #170650 PERIODONTITIS, AGGRESSIVE, 1 Gene map locus 11q14.1-q14.3 170600 NORMOKALEMIC PERIODIC PARALYSIS #170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE, INCLUDED Gene map locus 17q23.1-q25.3 #170400 HYPOKALEMIC PERIODIC PARALYSIS; HOKPP Gene map locus 17q23.1-q25.3, 1q32, 11q13-q14 #170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Gene map locus 17q23.1-q24.2 169610 PEMPHIGUS VULGARIS, FAMILIAL #169600 BENIGN CHRONIC PEMPHIGUS; BCPM Gene map locus 3q21-q24 169550 PELVIS-SHOULDER DYSPLASIA %169545 PELVIC LIPOMATOSIS WITH CROSSED RENAL ECTOPIA #169500 LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT Gene map locus 5q23.3-q31.1 #169400 PELGER-HUET ANOMALY; PHA Gene map locus 1q42.1 169300 PECTUS EXCAVATUM 169200 PECHET FACTOR DEFICIENCY 169170 PATTERSON PSEUDOLEPRECHAUNISM SYNDROME #169150 PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM Gene map locus 6p21.1-cen #169100 CHAR SYNDROME Gene map locus 6p12 %169000 PATELLA, FAMILIAL RECURRENT DISLOCATION OF %168900 PATELLA, CHONDROMALACIA OF 168885 PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA %168860 PATELLA APLASIA-HYPOPLASIA; PTLAH Gene map locus 17q21-q22 168850 PATELLA APLASIA, COXA VARA, AND TARSAL SYNOSTOSIS 168830 PASSOVOY FACTOR 168800 PAROTIDOMEGALY, HEREDITARY BILATERAL 168710 PAROTID PROLINE-RICH SALIVARY PROTEIN Pc Gene map locus 12p13.2 %168605 PARKINSONISM WITH ALVEOLAR HYPOVENTILATION AND MENTAL DEPRESSION #168601 PARKINSON DISEASE, FAMILIAL, TYPE 1; PARK1 ATYPICAL PARKINSON DISEASE, INCLUDED Gene map locus 4q21 #168600 PARKINSON DISEASE; PD Gene map locus 18p11.31-p11.2, 17q21.1, 11p15.5, 1p, 9q34, 8p22-p21.3, 6q27, 5q23.1-q23.3, 4q22, 4p14, 2q22-q23, 2p13, Xq21-q25 #168550 PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA; PFMCCD Gene map locus 5q34-q35 #168500 PARIETAL FORAMINA; PFM PARIETAL FORAMINA 1, INCLUDED; PFM1, INCLUDED Gene map locus 5q34-q35 168400 PARASTREMMATIC DWARFISM #168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC PARALYSIS PERIODICA PARAMYOTONIA, INCLUDED Gene map locus 17q23.1-q25.3 168200 PARAMOLAR TUBERCLE OF BOLK 168100 PARALYSIS AGITANS, JUVENILE, OF HUNT #168000 PARAGANGLIOMAS 1; PGL1 PARAGANGLIOMAS WITH SENSORINEURAL HEARING LOSS, INCLUDED Gene map locus 11q23 167960 HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2; HPV18I2 Gene map locus 12q13 167959 HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1; HPV18I1 Gene map locus 8q24 167950 PAPILLOMATOSIS, FLORID, OF NIPPLE 167900 PAPILLOMATOSIS, FAMILIAL CUTANEOUS %167870 PANIC DISORDER 1; PAND1 PANIC DISORDER WITH BLADDER CONDITIONS, INCLUDED Gene map locus 13q22-q32, 22q11.2 167850 PANCYTOPENIA AND OCCLUSIVE VASCULAR DISEASE #167800 PANCREATITIS, HEREDITARY; PCTT PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO, INCLUDED Gene map locus 1p36.21, 7q35, 5q32 167755 PANCREAS, DORSAL, AGENESIS OF 167750 PANCREAS, ANNULAR %167730 PALPEBRAL COLOBOMA-LIPOMA SYNDROME 167700 PALMOMENTAL REFLEX 167600 PALMARIS LONGUS MUSCLE, ABSENCE OF %167500 PALATOPHARYNGEAL INCOMPETENCE #167400 PAROXYSMAL EXTREME PAIN DISORDER Gene map locus 2q24 #167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD Gene map locus 9p13-p12 167300 PAGET DISEASE, EXTRAMAMMARY 167250 PAGET DISEASE OF BONE 1; PDB1 Gene map locus 6p21.3 167220 PACMAN DYSPLASIA #167210 PACHYONYCHIA CONGENITA, TYPE 2; PC2 Gene map locus 17q12-q21, 12q13 #167200 PACHYONYCHIA CONGENITA, TYPE 1; PC1 PACHYONYCHIA CONGENITA TARDA, TYPE 1 Gene map locus 17q12-q21, 12q13 %167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT %167030 NEPHROLITHIASIS, CALCIUM OXALATE UROLITHIASIS, CALCIUM OXALATE, INCLUDED %167000 SUPPRESSOR OF TUMORIGENICITY 8; ST8 OVARIAN CANCER, FAMILIAL, INCLUDED Gene map locus 6q26-q27 166990 OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA, HYDROCEPHALUS, AND HYPERTENSION 166970 OVARIAN FIBROMATA 166950 TERATOMA, OVARIAN 166910 OVALOCYTOSIS, HEREDITARY HEMOLYTIC, WITH DEFECTIVE ERYTHROPOIESIS 166900 OVALOCYTOSIS, HEREDITARY HEMOLYTIC %166800 OTOSCLEROSIS; OTSC1 Gene map locus 15q26.1-qter #166780 OTOFACIOCERVICAL SYNDROME Gene map locus 8q13.3 %166760 OTITIS MEDIA, SUSCEPTIBILITY TO Gene map locus 10q26.3 %166750 OTODENTAL DYSPLASIA 166740 OSTEOSCLEROSIS WITH ICHTHYOSIS AND FRACTURES #166710 OSTEOPOROSIS FRACTURE, HIP, SUSCEPTIBILITY TO, INCLUDED Gene map locus 20p12.3, 17q21.31-q22, 12q12-q14, 11q13.4, 11p12, 7q22.1, 7q21.3, 7p21, 5q31.1 166705 OSTEOPOIKILOSIS AND DACRYOCYSTITIS #166700 BUSCHKE-OLLENDORFF SYNDROME OSTEOPOIKILOSIS, ISOLATED, INCLUDED Gene map locus 12q14 #166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2 Gene map locus 16p13 %166500 OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS 166450 OSTEOMESOPYKNOSIS 166400 OSTEOMAS OF MANDIBLE #166350 OSSEOUS HETEROPLASIA, PROGRESSIVE Gene map locus 20q13.2 %166300 OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH NEPHROPATHY #166260 GNATHODIAPHYSEAL DYSPLASIA; GDD Gene map locus 11p14.3 #166250 OSTEOGLOPHONIC DYSPLASIA; OGD 166240 OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH 166230 OSTEOGENESIS IMPERFECTA WITH OPALESCENT TEETH, BLUE SCLERAE AND WORMIAN BONES, BUT WITHOUT FRACTURES #166220 OSTEOGENESIS IMPERFECTA, TYPE IV Gene map locus 17q21.31-q22 #166210 OSTEOGENESIS IMPERFECTA, TYPE IIA Gene map locus 17q21.31-q22, 7q22.1 #166200 OSTEOGENESIS IMPERFECTA, TYPE I OSTEOPENIC NONFRACTURE SYNDROME, INCLUDED Gene map locus 17q21.31-q22, 7q22.1 #166000 ENCHONDROMATOSIS, MULTIPLE MAFFUCCI SYNDROME, INCLUDED Gene map locus 3p22-p21.1 %165800 OSTEOCHONDRITIS DISSECANS; OD #165720 OSTEOARTHRITIS OSTEOARTHRITIS SUSCEPTIBILITY, FEMALE-SPECIFIC, INCLUDED; OASF, INCLUDED Gene map locus 12q13.11-q13.2, 11q, 9q21.3-q22, 2q31-q33 %165700 OSTEOARTHROPATHY OF FINGERS, FAMILIAL 165680 OSSICULAR MALFORMATIONS, FAMILIAL 165670 OSSIFIED EAR CARTILAGES %165660 OSLAM SYNDROME 165600 ORBITAL MARGIN, HYPOPLASIA OF 165590 OROFACIODIGITAL SYNDROME X; OFD10 #165550 OPTIC NERVE HYPOPLASIA, BILATERAL OPTIC NERVE APLASIA, BILATERAL, INCLUDED Gene map locus 11p13 165510 OPTIC ATROPHY WITH NEGATIVE ELECTRORETINOGRAMS #165500 OPTIC ATROPHY 1; OPA1 Gene map locus 3q28-q29 #165300 OPTIC ATROPHY 3, AUTOSOMAL DOMINANT Gene map locus 19q13.2-q13.3 165200 OPTIC ATROPHY WITH DEMYELINATING DISEASE OF CNS 165199 OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMAL DOMINANT 165150 OPHTHALMOPLEGIA, PROGRESSIVE, WITH SCROTAL TONGUE AND MENTAL DEFICIENCY 165098 OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION %165000 OPHTHALMOPLEGIA, FAMILIAL STATIC #164970 ONCOGENE TRK %164900 OPHTHALMOMANDIBULOMELIC DYSPLASIA 164891 ONCOGENE YUASA 164800 ONYCHOLYSIS, PARTIAL, WITH SCLERONYCHIA 164750 OMPHALOCELE %164745 OMODYSPLASIA 164700 OLIVOPONTOCEREBELLAR ATROPHY V; OPCA V 164680 ONYCHOGRYPOSIS, PEDAL, WITH KERATOSIS PLANTARIS AND COARSE HAIR #164500 SPINOCEREBELLAR ATAXIA 7; SCA7 Gene map locus 3p21.1-p12 #164400 SPINOCEREBELLAR ATAXIA 1; SCA1 Gene map locus 6p23 164330 ODONTOMA-DYSPHAGIA SYNDROME 164310 OCULOPHARYNGODISTAL MYOPATHY #164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD Gene map locus 14q11.2-q13 #164280 FEINGOLD SYNDROME Gene map locus 2p24.1 #164230 OBSESSIVE-COMPULSIVE DISORDER 1; OCD1 Gene map locus 17q11.1-q12, 13q14-q21, 11p13 %164220 OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS %164210 HEMIFACIAL MICROSOMIA; HFM Gene map locus 14q32 #164200 OCULODENTODIGITAL DYSPLASIA; ODDD Gene map locus 6q21-q23.2 164190 OCULAR DOMINANCE 164185 OCULAR CICATRICIAL PEMPHIGOID; OCP 164180 OCULOCEREBROCUTANEOUS SYNDROME %164170 NYSTAGMUS, VOLUNTARY %164150 NYSTAGMUS, HEREDITARY VERTICAL %164100 NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT; NYS2 Gene map locus 6p12 164000 NOSE, ANOMALOUS SHAPE OF #163955 NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME #163950 NOONAN SYNDROME 1; NS1 PTERYGIUM COLLI SYNDROME, INCLUDED Gene map locus 12q24.1 163850 NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES #163800 SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT; SSS2 Gene map locus 15q24-q25 %163700 NIPPLES, SUPERNUMERARY 163600 NIPPLES INVERTED #163500 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2; CSNBAD2 Gene map locus 4p16.3 %163400 NIEVERGELT SYNDROME %163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME %163100 NEVUS FLAMMEUS OF NAPE OF NECK 163050 NEVUS ANEMICUS %163000 NEVI FLAMMEI, FAMILIAL MULTIPLE Gene map locus 5q13-q22 #162900 NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC Gene map locus 4p16.3 162830 NEUTROPHILIA, HEREDITARY %162820 NEUTROPHIL CHEMOTACTIC RESPONSE; NCR Gene map locus 7q22-qter #162800 CYCLIC HEMATOPOIESIS Gene map locus 19p13.3 %162700 NEUTROPENIA, CHRONIC FAMILIAL 162600 NEUROPATHY, WITH PARAPROTEIN IN SERUM, CEREBROSPINAL FLUID AND URINE #162500 NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP Gene map locus 17p11.2 #162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I; HSAN1 Gene map locus 9q22.1-q22.3 162380 NEUROPATHY, HEREDITARY SENSORIMOTOR, WITH UPPER MOTOR NEURON, VISUAL PATHWAY AND AUTONOMIC DISTURBANCE %162370 NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX %162350 CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B #162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B GANGLIONEUROMATOSIS OF THE ALIMENTARY TRACT, INCLUDED Gene map locus 10q11.2 162270 NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI; NF4 162260 NEUROFIBROMATOSIS, TYPE III, MIXED CENTRAL AND PERIPHERAL; NF3A NEUROFIBROMAS, PALMAR CUTANEOUS, INCLUDED 162240 NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME #162210 NEUROFIBROMATOSIS, FAMILIAL SPINAL Gene map locus 17q11.2 #162100 AMYOTROPHY, HEREDITARY NEURALGIC; HNA Gene map locus 17q25 #162091 SCHWANNOMATOSIS Gene map locus 22q12.2 162020 NERVE GROWTH FACTOR, ALPHA SUBUNIT; NGFA #162000 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE; HNFJ Gene map locus 16p12.3 %161950 IgA NEPHROPATHY 1; IGAN1 Gene map locus 1q31-q42, 1q23-q25, 1q23-q25, 6q22-q23 %161900 RENAL FAILURE, PROGRESSIVE, WITH HYPERTENSION Gene map locus 1q21 #161800 NEMALINE MYOPATHY 3; NEM3 NEMALINE MYOPATHY 3 WITH INTRANUCLEAR RODS, INCLUDED Gene map locus 1q42.1, 1q22-q23, 9p13.2-p13.1 161700 NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT 161600 NAVICULAR BONE, ACCESSORY #161550 NASOPHARYNGEAL CARCINOMA Gene map locus 17p13.1, 4p15.1-q12 161530 NASAL HYPERPIGMENTATION, FAMILIAL TRANSVERSE %161500 NASAL GROOVE, FAMILIAL TRANSVERSE 161480 NASAL BONES, ABSENCE OF 161470 NASAL ALAR COLLAPSE, BILATERAL #161400 NARCOLEPSY 1; NRCLP1 CATAPLEXY, INCLUDED Gene map locus 17q21, 4p13-q21, 21q22.3 #161200 NAIL-PATELLA SYNDROME; NPS Gene map locus 9q34.1 161100 NAILBEDS, PIGMENTATION OF 161080 NAIL LOW-SULFUR PROTEIN 161070 NAIL HIGH-SULFUR PROTEIN %161050 NAIL DYSPLASIA TWENTY-NAIL DYSTROPHY, INCLUDED #161000 NAEGELI SYNDROME Gene map locus 17q12-q21 160990 MYOTONIC MYOPATHY WITH CYLINDRICAL SPIRALS #160980 CARNEY COMPLEX, TYPE 1; CNC1 Gene map locus 17q23-q24 #160900 DYSTROPHIA MYOTONICA 1 Gene map locus 19q13.2-q13.3 #160800 MYOTONIA CONGENITA, AUTOSOMAL DOMINANT MYOTONIA LEVIOR, INCLUDED Gene map locus 7q35 %160750 MYOSITIS %160700 MYOPIA 2; MYP2 Gene map locus 18p11.31 160570 MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS %160565 MYOPATHY, TUBULAR AGGREGATE #160500 MYOPATHY, DISTAL 1; MPD1 Gene map locus 14q12 %160300 MYOPATHY, DISTAL, WITH ONSET IN INFANCY #160150 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT Gene map locus 19p13.2, 12q21, 3p25.3 #160120 EPISODIC ATAXIA, TYPE 1; EA1 MYOKYMIA 1, INCLUDED Gene map locus 12p13 %160010 MYOGLOBINURIA, AUTOSOMAL DOMINANT 159950 MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY #159900 MYOCLONIC DYSTONIA DYSTONIA 11, MYOCLONIC, INCLUDED; DYT11, INCLUDED Gene map locus 11q23, 7q21 159800 MYOCLONUS, CEREBELLAR ATAXIA, AND DEAFNESS 159700 MYOCLONUS AND ATAXIA %159600 MYOCLONIC EPILEPSY, HARTUNG TYPE %159595 MYELOPROLIFERATIVE SYNDROME, TRANSIENT Gene map locus 21q11.2 159580 MYELOPATHY, HTLV-1-ASSOCIATED; HAM 159550 MYELOCEREBELLAR DISORDER 159500 MYELINATED OPTIC NERVE FIBERS 159420 MYDRIASIS, CONGENITAL 159410 MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS 159400 MYASTHENIA, LIMB-GIRDLE, AUTOIMMUNE 159300 MUSICAL PERFECT PITCH 159100 MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE %159050 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES #159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B Gene map locus 1q21.2 #159000 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A; LGMD1A Gene map locus 5q31 %158901 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B; FSHMD1B %158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, INFANTILE, INCLUDED Gene map locus 4q35 #158810 BETHLEM MYOPATHY Gene map locus 2q37, 21q22.3, 21q22.3 158800 MUSCULAR DYSTROPHY, BARNES TYPE 158650 MUSCULAR ATROPHY, MALIGNANT NEUROGENIC %158600 SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT SMA, CHILDHOOD ISOLATED, INCLUDED #158590 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A Gene map locus 12q24 %158580 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA; HMN7A Gene map locus 2q14 %158500 MUSCULAR ATROPHY, ATAXIA, RETINITIS PIGMENTOSA, AND DIABETES MELLITUS %158400 MUSCLE CRAMPS, FAMILIAL #158350 COWDEN DISEASE; CD DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM, INCLUDED Gene map locus 10q23.31 158345 MULTIPLE EXOSTOSES WITH SPASTIC TETRAPARESIS #158330 MULLERIAN APLASIA #158320 MUIR-TORRE SYNDROME; MTS Gene map locus 3p21.3, 2p22-p21 %158310 MUCOEPITHELIAL DYSPLASIA, HEREDITARY #158300 TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Gene map locus 17p13.1 158280 MOTION SICKNESS 158250 NONDISJUNCTION #158170 MONOSOMY 9p SYNDROME 158100 MONOPHALANGY OF GREAT TOE 158050 MONKEY RED BLOOD CELL RECEPTOR; MRBC Gene map locus Chr.6 #158000 MONILETHRIX Gene map locus 12q13, 12q13, 12q13 157980 MOMO SYNDROME 157960 MOLONEY LEUKEMIA VIRUS INTEGRATION SITE 2, MOUSE, HOMOLOG OF; MLVI2 Gene map locus 5p14 %157950 MOLAR I REINCLUSION %157900 MOEBIUS SYNDROME; MBS Gene map locus 13q12.2-q13 157860 MIXED LYMPHOCYTE CULTURE LOCUS II Gene map locus 6p21.3 157800 MITRAL REGURGITATION, CONDUCTIVE DEAFNESS, AND FUSION OF CERVICAL VERTEBRAE AND OF CARPAL AND TARSAL BONES %157700 MITRAL VALVE PROLAPSE, FAMILIAL; MVP MITRAL VALVE PROLAPSE, MYXOMATOUS 1, INCLUDED; MMVP1, INCLUDED Gene map locus 16p12.1-p11.2 #157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM, INCLUDED Gene map locus 15q25, 4q35 157600 MIRROR MOVEMENTS, HEREDITARY %157400 MILIA, MULTIPLE ERUPTIVE %157300 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 Gene map locus 6q25.1, 6p21.3, 4q31.2, 4q24 %157200 MIDPHALANGEAL HAIR #157170 HOLOPROSENCEPHALY 2; HPE2 MIDLINE CLEFT SYNDROME, INCLUDED Gene map locus 2p21 157160 MICROTUBULE-ASSOCIATED PROTEIN TAU-LIKE; MAPTL 157151 MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA 157150 MICROSPHEROPHAKIA WITH HERNIA 157100 MICROPHTHALMIA, PIGMENTARY RETINOPATHY, CATARACT, AND GLAUCOMA 156900 MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA; MCOPCR %156850 MICROPHTHALMIA, ISOLATED, WITH CATARACT 1; MCOPCT1 Gene map locus 16p13.3 156830 MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL 156810 MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION; MLRD 156700 MICROCORNEA, GLAUCOMA, AND ABSENT FRONTAL SINUSES 156620 MICROCEPHALY-DEAFNESS SYNDROME %156610 SKIN CREASES, MULTIPLE BENIGN RING-SHAPED, OF LIMBS %156600 MICROCORIA, CONGENITAL Gene map locus 13q31-q32 156590 CHORIORETINAL DYSPLASIA-MICROCEPHALY-MENTAL RETARDATION SYNDROME MICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL DOMINANT, INCLUDED %156580 MICROCEPHALY, AUTOSOMAL DOMINANT #156575 MEVALONATE UPTAKE FACILITATOR; MEV #156550 KNIEST DYSPLASIA Gene map locus 12q13.11-q13.2 156530 METATROPIC DYSPLASIA, NONLETHAL DOMINANT %156520 METATARSUS VARUS, TYPE I 156510 METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA AND BRACHYDACTYLY #156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE; MCDS #156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE Gene map locus 3p22-p21.1 156310 METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASE A 156300 METACHROMASIA OF FIBROBLASTS 156250 METACHONDROMATOSIS %156240 MESOTHELIOMA, MALIGNANT Gene map locus 9p %156232 MESOMELIC DYSPLASIA, KANTAPUTRA TYPE Gene map locus 2q24-q32 %156230 MESOMELIC DWARFISM OF HYPOPLASTIC TIBIA AND RADIUS TYPE 156220 MERALGIA PARAESTHETICA, FAMILIAL #156200 MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1 Gene map locus 2q23.1 156190 MENTAL AND GROWTH RETARDATION WITH AMBLYOPIA #156000 MENIERE DISEASE Gene map locus 14q12-q13 %155980 MEMBRANOUS CRANIAL OSSIFICATION, DELAYED #155950 MELORHEOSTOSIS MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, INCLUDED Gene map locus 12q14 %155900 MELKERSSON-ROSENTHAL SYNDROME Gene map locus 9p11 %155800 MELANOSIS, UNIVERSAL 155770 MELANOMA TUMOR ANTIGEN GP90 #155755 MELANOMA-ASTROCYTOMA SYNDROME Gene map locus 9p21 #155720 MELANOMA, UVEAL 155700 MELANOMA, MALIGNANT FAMILIAL INTRAOCULAR #155601 MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2 Gene map locus 9p21 %155600 MELANOMA, CUTANEOUS MALIGNANT; CMM MELANOMA, CUTANEOUS MALIGNANT, 1, INCLUDED; CMM1, INCLUDED Gene map locus 16q24.3, 1p22, 1p36 155500 MEGALODACTYLY %155350 MEGALENCEPHALY %155310 MEGADUODENUM AND/OR MEGACYSTIS PSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL #155255 MEDULLOBLASTOMA MEDULLOBLASTOMA, DESMOPLASTIC, INCLUDED Gene map locus 10q25.3-q26.1, 10q24-q25, 1p32 #155240 THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC Gene map locus 1q21-q22, 10q11.2 155200 MEDIOSTERNAL DEPIGMENTATION LINE 155150 MEDIAN-ULNAR NERVE COMMUNICATIONS 155145 CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA 155140 MECKEL DIVERTICULUM #155100 MAY-HEGGLIN ANOMALY; MHA Gene map locus 22q11.2 %155050 MAXILLONASAL DYSPLASIA, BINDER TYPE %155000 MAXILLOFACIAL DYSOSTOSIS 154850 MASTICATORY MUSCLES, HYPERTROPHY OF 154800 MAST CELL DISEASE URTICARIA PIGMENTOSA, INCLUDED #154780 MARSHALL SYNDROME Gene map locus 1p21 154750 MARFANOID HYPERMOBILITY SYNDROME #154700 MARFAN SYNDROME; MFS Gene map locus 15q21.1 154600 MARCUS GUNN PHENOMENON %154570 MANNOSE 6-PHOSPHATE RECEPTOR RECOGNITION DEFECT, LEBANESE TYPE #154500 TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF Gene map locus 5q32-q33.1 154400 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1 Gene map locus 9q32 154370 MAMMASTATIN 154300 MALOCCLUSION DUE TO PROTUBERANT UPPER FRONT TEETH %154276 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 Gene map locus 7q21-q22 %154275 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 Gene map locus 17q11.2-q24 #154020 HYPOMAGNESEMIA 2, RENAL; HOMG2 Gene map locus 11q23 154000 MACULES, HEREDITARY CONGENITAL HYPOPIGMENTED AND HYPERPIGMENTED 153890 MACULAR DYSTROPHY, FENESTRATED SHEEN TYPE %153880 MACULAR EDEMA, CYSTOID Gene map locus 7p21-p15 %153870 MACULAR DYSTROPHY, CONCENTRIC ANNULAR Gene map locus 11q13 %153840 MACULAR DYSTROPHY, ATYPICAL VITELLIFORM; VMD1 Gene map locus 8q24 #153800 MACULAR DEGENERATION, AGE-RELATED, 2; ARMD2 Gene map locus 1p21-p13 #153700 MACULAR DYSTROPHY, VITELLIFORM; VMD BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL, INCLUDED Gene map locus 11q13 #153670 BERNARD-SOULIER SYNDROME, BENIGN AUTOSOMAL DOMINANT #153650 EPSTEIN SYNDROME ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA, INCLUDED; APSM, INCLUDED Gene map locus 22q11.2 #153640 FECHTNER SYNDROME; FTNS Gene map locus 22q11.2 %153630 MACROGLOSSIA %153600 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1; WM1 Gene map locus 6p21.3 #153550 CHROMOSOME 5q DELETION SYNDROME MEGAKARYOCYTES, UNILOBULAR NUCLEATED, INCLUDED Gene map locus 5q31.1 #153480 BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS Gene map locus 10q23.31 153470 MACROCEPHALY, BENIGN FAMILIAL #153400 LYMPHEDEMA-DISTICHIASIS SYNDROME LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, INCLUDED Gene map locus 16q24.3 %153300 YELLOW NAIL SYNDROME %153200 LYMPHEDEMA, HEREDITARY, II #153100 LYMPHEDEMA, HEREDITARY, IA Gene map locus 5q35.3 %152950 LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME 152900 LYMPHEDEMA AND CEREBRAL ARTERIOVENOUS ANOMALY %152800 LYMPHANGIECTASIA, INTESTINAL #152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA, INCLUDED Gene map locus 1q41-q42, 16p12.3-q12.2, 16p13.3, 1q23, 1q23, 13q32, 1q22, 12q24, 11q14, 1p13, 6p21.3, 4q22-q24, 4p16-p15.2, 3p21.3-p21.2, 2q37.3, 2q32.2-q32.3 152600 LUNULAE OF FINGERNAILS 152550 LUMBAR STENOSIS, FAMILIAL %152460 LOBULAR GLOMERULOPATHY, FAMILIAL 152450 LOW DENSITY LIPOPROTEIN, VARIATION IN MOLECULAR WEIGHT OF #152430 LONGEVITY Gene map locus 17p11.1, 16q21, 9q32-q33, 4q25, 1p35 152420 LITHIUM TRANSPORT 152400 LIPOPROTEIN, VARIANT OF BETA 152300 LIPOPROTEIN TYPES--Lt SYSTEM %152100 LIPOPROTEIN TYPES--Ld SYSTEM %151900 LIPOMATOSIS, MULTIPLE Gene map locus 12q14.3 151800 LIPOMATOSIS, FAMILIAL BENIGN CERVICAL 151700 LIPOMA OF THE CONJUNCTIVA #151660 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2 Gene map locus 1q21.2, 3p25 151640 LIP, HAMARTOMATOUS %151630 LIP, MEDIAN NODULE OF UPPER #151623 LI-FRAUMENI SYNDROME 1; LFS1 LI-FRAUMENI-LIKE SYNDROME, INCLUDED; LFL, INCLUDED Gene map locus 17p13.1, 9p21 151620 LICHEN PLANUS, FAMILIAL 151610 LEVATOR-MEDIAL RECTUS SYNKINESIS %151600 LEUKONYCHIA TOTALIS 151590 LICHEN SCLEROSUS ET ATROPHICUS; LSA 151550 LEUKONYCHIA MACULATA 151500 LEUKOCYTE NUCLEAR APPENDAGES, HEREDITARY PREVALENCE OF #151400 LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL Gene map locus 13q14.3, 13q14.3, 12q24, 11q13 151380 LEUKEMIA, ACUTE MONOCYTIC #151210 PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, LUTON TYPE, INCLUDED; PLSDL, INCLUDED %151200 LERI PLEONOSTEOSIS #151100 LEOPARD SYNDROME 1 Gene map locus 12q24.1 151050 LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM %151001 LENTIGINOSIS, INHERITED PATTERNED 151000 LENTIGINOSIS, CENTROFACIAL NEURODYSRAPHIC 150900 LENTIGINES #150800 LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN Gene map locus 1q42.1 150700 LEIOMYOMA OF VULVA AND ESOPHAGUS #150699 LEIOMYOMA, UTERINE; UL #150600 LEGG-CALVE-PERTHES DISEASE 150590 LEG ULCERS, FAMILIAL, OF JUVENILE ONSET 150550 LAZY LEUKOCYTE SYNDROME 150500 LATTICE DEGENERATION OF RETINA LEADING TO RETINAL DETACHMENT %150400 TOOTH AGENESIS, SELECTIVE, 4; STHAG4 SUCCEDANEOUS TEETH, AGENESIS OF, INCLUDED 150360 LARYNGEAL WEB, FAMILIAL 150300 LARYNX, CONGENITAL PARTIAL ATRESIA OF 150280 LARYNGOMALACIA %150270 LARYNGEAL ADDUCTOR PARALYSIS; LAP Gene map locus 6p21.3-p21.2 %150260 LARYNGEAL ABDUCTOR PARALYSIS #150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1 Gene map locus 3p14.3 #150230 TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 Gene map locus 8q24.11-q24.13 150220 LACTOSE INTOLERANCE, CONGENITAL 150170 LACTIC ACIDOSIS, CHRONIC ADULT FORM 150160 LACTATE DEHYDROGENASE-K; LDHK #149730 LACRIMOAURICULODENTODIGITAL SYNDROME; LADD Gene map locus 5p13-p12, 4p16.3 149700 LACRIMAL DUCT DEFECT 149600 LABIA MINORA, INCOMPLETE ADHESION OF 149500 KYRLE DISEASE #149400 HYPEREKPLEXIA, HEREDITARY Gene map locus 14q24, 11p15.2-p15.1, 5q32, 4q31.3 %149300 KOILONYCHIA, HEREDITARY #149200 KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS Gene map locus 13q11-q12 #149100 KNUCKLE PADS %149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME Gene map locus 8q22.3 %148900 SEGMENTATION SYNDROME 1; SGM1 Gene map locus 8q22.2 148840 KLEINE-LEVIN HIBERNATION SYNDROME #148820 WAARDENBURG SYNDROME, TYPE III; WS3 Gene map locus 2q35 148800 KLEEBLATTSCHAEDEL SYNDROME %148730 KERATOSIS, FOCAL PALMOPLANTAR AND GINGIVAL #148700 KERATOSIS PALMOPLANTARIS STRIATA I Gene map locus 18q12.1-q12.2, 12q13 %148600 KERATOSIS PALMOPLANTARIS PAPULOSA 148520 KERATOSIS PALMARIS ET PLANTARIS WITH CLINODACTYLY %148500 TYLOSIS WITH ESOPHAGEAL CANCER; TOC Gene map locus 17q25 148390 KERATOSIS, FAMILIAL ACTINIC %148370 KERATOLYTIC WINTER ERYTHEMA Gene map locus 8p23-p22 148360 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY NEUROPATHY #148350 KERATODERMA, PALMOPLANTAR, WITH DEAFNESS Gene map locus 13q11-q12 #148300 KERATOCONUS 1; KTCN1 Gene map locus 20p11.2 #148210 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT Gene map locus 13q11-q12 %148200 KERATITIS FUGAX HEREDITARIA #148190 KERATITIS, HEREDITARY Gene map locus 11p13 148100 KELOIDS %148050 KBG SYNDROME #148000 KAPOSI SARCOMA Gene map locus 7p21 #147950 KALLMANN SYNDROME 2; KAL2 KALLMANN SYNDROME 2 WITH CLEFT LIP OR PALATE, INCLUDED Gene map locus 8p11.2-p11.1 %147920 KABUKI SYNDROME %147900 JOINT LAXITY, FAMILIAL #147891 SMALL PATELLA SYNDROME; SPS Gene map locus 17q21-q22 147820 INTERNAL CAROTID ARTERY, SPONTANEOUS DISSECTION OF %147800 AASE-SMITH SYNDROME I #147791 JACOBSEN SYNDROME; JBS Gene map locus 11q23 %147770 JOHNSON NEUROECTODERMAL SYNDROME #147750 IVIC SYNDROME Gene map locus 20q13.13-q13.2 147710 INTUSSUSCEPTION 147630 ISLET CELL ADENOMATOSIS 147610 IRIS PIGMENT LAYER, CLEAVAGE OF 147560 INTERFERON ANTIVIRAL DEPRESSOR 147540 INSECT STINGS, HYPERSENSITIVITY TO 147530 INSENSITIVITY TO PAIN WITH HYPERPLASTIC MYELINOPATHY #147480 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY; ICP Gene map locus 7q21.1 %147430 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT %147421 INCLUSION BODY MYOSITIS 147400 INCISORS, SHOVEL-SHAPED 147350 INCISORS, ROTATION OF UPPER CENTRAL 147330 INCISORS, LOWER CENTRAL, ABSENCE OF 147320 INSULIN RECEPTORS, FAMILIAL INCREASE IN 147300 INCISORS, LONG UPPER CENTRAL 147260 IMMUNOGLOBULIN SWITCH SEQUENCES IMMUNOGLOBULIN-INDEPENDENT SWITCH SEQUENCES, INCLUDED 147251 INCISORS, FUSED MANDIBULAR #147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME, INCLUDED Gene map locus 7q36 %147061 IMMUNOGLOBULIN E CONCENTRATION, SERUM; IGES Gene map locus 5q31.1 #147060 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Gene map locus 17q21, 4q21 #147050 IgE RESPONSIVENESS, ATOPIC; IGER IgE, ELEVATED LEVEL OF, INCLUDED Gene map locus 16p11, 16p12.1-p11.2, 1q23-q25, 13q14.1, 11q13, 6p21.2-p12, 5q33.2, 5q32 146990 IMMUNOGLOBULIN HEAVY CHAIN DIVERSITY REGION 2; IGHDY2 Gene map locus 15q11-q12 146850 IMMUNE SUPPRESSION; IS Gene map locus 6p21.3 146840 IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTION AND WITH RESPONSE TO HISTAMINE-1 ANTAGONIST 146830 IMMUNE DEFICIENCY, FAMILIAL VARIABLE #146800 ICHTHYOSIS, BULLOUS TYPE ICHTHYOSIS EXFOLIATIVA, INCLUDED Gene map locus 12q11-q13 146750 ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT 146720 ICHTHYOSIS--CHEEK--EYEBROW SYNDROME #146700 ICHTHYOSIS VULGARIS Gene map locus 1q21 146600 ICHTHYOSIS HYSTRIX GRAVIOR #146590 ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE; IHCM Gene map locus 12q13 146580 HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE SUPPRESSOR %146550 HYPOTRICHOSIS, MARIE UNNA TYPE Gene map locus 8p21 #146520 HYPOTRICHOSIS SIMPLEX OF SCALP Gene map locus 6p21.3 #146510 PALLISTER-HALL SYNDROME; PHS Gene map locus 7p13 146500 HYPOTENSION, ORTHOSTATIC 146450 HYPOSPADIAS, AUTOSOMAL 146400 HYPOPLASIA OF TEETH ROOTS #146390 CHROMOSOME 18p DELETION SYNDROME %146350 HYPOPHOSPHATEMIC BONE DISEASE; HBD #146300 HYPOPHOSPHATASIA, ADULT ODONTOHYPOPHOSPHATASIA, INCLUDED Gene map locus 1p36.1-p34 #146255 HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE Gene map locus 10p15 #146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH HYPOPARATHYROIDISM, AUTOSOMAL RECESSIVE, INCLUDED Gene map locus 11p15.3-p15.1, 6p24.2, 3q13.3-q21 146160 HYPOMELIA WITH MULLERIAN DUCT ANOMALIES #146110 HYPOGONADOTROPIC HYPOGONADISM Gene map locus 19p13.3, 9q34.3 #146000 HYPOCHONDROPLASIA; HCH Gene map locus 4p16.3 %145981 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II; HHC2 Gene map locus 19p13.3 #145980 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1 HYPOCALCIURIC HYPERCALCEMIA, ACQUIRED, INCLUDED Gene map locus 3q13.3-q21 #145900 HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS Gene map locus 19q13.1-q13.2, 17p11.2, 1q22, 10q21.1-q22.1 %145800 HYPERTROPHIA MUSCULORUM VERA #145750 HYPERTRIGLYCERIDEMIA, FAMILIAL Gene map locus 15q11.2-q13.1, 11q23, 8q11-q13, 21q11.2 %145701 HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1 Gene map locus 8q22 %145700 HYPERTRICHOSIS UNIVERSALIS %145680 HYPERTHYROXINEMIA, FAMILIAL #145650 THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; PRTH #145600 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 KING SYNDROME, INCLUDED Gene map locus 19q13.1 145590 HYPERTHERMIA, CUTANEOUS, WITH HEADACHES AND NAUSEA #145500 HYPERTENSION, ESSENTIAL Gene map locus 20q13.11-q13.13, 20q11-q13, 1q42-q43, 17q21-q22, 17q, 17cen-q11.2, 1q23-q25, 15q, 1q23, 1q22-q25, 12p12.2-p12.1, 12p13, 7q36, 7q22.1, 5p13-q12, 4p16.3, 3q21-q25, 1p36.1, 2p25-p24 %145420 HYPERTELORISM, TEEBI TYPE %145410 HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS Gene map locus 22q11.2 %145400 HYPERTELORISM 145350 HYPERTAURINURIC CARDIOMYOPATHY 145300 HYPERSENSITIVITY PNEUMONITIS, FAMILIAL 145295 HYPERSECRETION OF ADRENAL ANDROGENS, FAMILIAL 145290 HYPERREFLEXIA; HRX Gene map locus 7q 145270 HYPERPROGLUCAGONEMIA #145260 PSEUDOHYPOALDOSTERONISM, TYPE II; PHA2 PSEUDOHYPOALDOSTERONISM, TYPE IIA, INCLUDED; PHA2A, INCLUDED Gene map locus 17q21-q22, 1q31-q42, 12p13 %145250 HYPERPIGMENTATION, FAMILIAL PROGRESSIVE Gene map locus 19pter-p13.1 145200 HYPERPIGMENTATION OF FULDAUER AND KUIJPERS %145100 HYPERPIGMENTATION OF EYELIDS #145001 HYPERPARATHYROIDISM 2; HRPT2 PARATHYROID ADENOMATOSIS, FAMILIAL CYSTIC, INCLUDED Gene map locus 1q25-q31 #145000 HYPERPARATHYROIDISM 1; HRPT1 PARATHYROID ADENOMA, FAMILIAL, INCLUDED Gene map locus 1q25-q31, 11q13 144800 HYPEROSTOSIS FRONTALIS INTERNA 144755 HYPEROSTOSIS CRANIALIS INTERNA #144750 HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS Gene map locus 11q13.4 #144700 RENAL CELL CARCINOMA 1; RCC1 HEREDITARY RENAL CANCER ASSOCIATED 1, INCLUDED; HRCA1, INCLUDED Gene map locus 17q12, 17p11.2, 12q24.2, 8q24.1, 3q21, 3p26-p25, 3p26.2 #144650 HYPERLIPOPROTEINEMIA, TYPE V Gene map locus 11q23 144600 HYPERLIPOPROTEINEMIA, TYPE IV #144400 HYPERLIPOPROTEINEMIA, TYPE II 144300 HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS #144250 HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL Gene map locus 8p22 #144200 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK UNILATERAL PALMOPLANTAR VERRUCOUS NEVUS, INCLUDED Gene map locus 17q12-q21, 17q12-q21 144190 HYPERKERATOSIS-HYPERPIGMENTATION SYNDROME %144150 HYPERKERATOSIS LENTICULARIS PERSTANS; HLP 144120 HYPERIMMUNOGLOBULIN G1(A1) SYNDROME IMMUNOGLOBULIN HEAVY CHAIN REGULATOR, INCLUDED; IGHR Gene map locus 14q32.33 144110 HYPERHIDROSIS PALMARIS ET PLANTARIS 144100 HYPERHIDROSIS, GUSTATORY 144050 HYPERHEPARINEMIA 144020 HYPERCHOLESTEROLEMIA SUPPRESSOR #144010 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B Gene map locus 2p24 #143890 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT Gene map locus 19p13.2, 1q21-q23, 9q22-q31, 8p21-p12, 7p15, 3p21.2-p14.1 143880 HYPERCALCEMIA, IDIOPATHIC, OF INFANCY #143870 HYPERCALCIURIA, ABSORPTIVE, 2; HCA2 Gene map locus 1q24 143860 HYPERCHLORHIDROSIS, ISOLATED %143850 ORTHOSTATIC HYPOTENSIVE DISORDER, STREETEN TYPE Gene map locus 18q #143500 GILBERT SYNDROME Gene map locus 2q37 #143470 HYPERALPHALIPOPROTEINEMIA Gene map locus 16q21 #143465 ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD Gene map locus 17p11, 16p13, 11p15.5, 6q12, 5p13, 5p15.3, 4p16.1-p15.3 143460 5-@HYDROXYTRYPTAMINE OXYGENASE REGULATOR; HTOR Gene map locus Chr.21 %143400 MULTICYSTIC RENAL DYSPLASIA, BILATERAL; MRD Gene map locus 6p #143200 WAGNER SYNDROME 1; WGN1 Gene map locus 5q12-q14 143150 H-Y ANTIGEN RECEPTOR 143095 HUMEROSPINAL DYSOSTOSIS 143050 HUMERORADIAL SYNOSTOSIS #143020 HPA I RECOGNITION POLYMORPHISM, BETA-GLOBIN-RELATED; HPA1 %143000 HORNER SYNDROME, CONGENITAL #142946 HOLOPROSENCEPHALY 4; HPE4 Gene map locus 18p11.3 #142945 HOLOPROSENCEPHALY 3; HPE3 Gene map locus 7q36 #142900 HOLT-ORAM SYNDROME; HOS Gene map locus 12q24.1 142770 HLA MODIFIER 142730 HISTIOCYTIC DERMATOARTHRITIS %142700 ACETABULAR DYSPLASIA HIP, DISLOCATION OF, CONGENITAL, INCLUDED Gene map locus 13q22 %142690 ACNE INVERSA, FAMILIAL #142680 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT Gene map locus 12p13.2 %142669 HIP DYSPLASIA, BEUKES TYPE Gene map locus 4q35 142630 HISTIOCYTOSIS, PROGRESSIVE MUCINOUS 142625 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME #142623 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 Gene map locus 20q13.2-q13.3, 10q11.2, 5p13.1-p12, 4p12, Xq28 142550 HEXOKINASE OF SPERMATOZOA 142500 HETEROCHROMIA IRIDIS %142470 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2; HBFQTL2 Gene map locus 6q22.3-q23.1 %142450 HERPESVIRUS SENSITIVITY; HV1S Gene map locus Chr.3 %142400 HERNIA, HIATUS 142395 HEPATITIS B VACCINE, RESPONSE TO 142350 HERNIA, DOUBLE INGUINAL %142340 DIAPHRAGMATIC HERNIA, CONGENITAL DIAPHRAGMATIC HERNIA 1, INCLUDED; DIH1; INCLUDED Gene map locus 15q26.1 #142335 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5; HBFQTL5 Gene map locus 7q36, 2p13 #142330 HEPATIC ADENOMAS, FAMILIAL Gene map locus 12q24.2 #142309 HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION IS UNKNOWN OR UNCERTAIN #141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE Gene map locus 16pter-p13.3 #141749 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1 Gene map locus 11p15.5, 11p15.5 141700 HEMOLYTIC POIKILOCYTIC ANEMIA DUE TO REDUCED ANKYRIN BINDING SITES #141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, INCLUDED Gene map locus 19p13 141405 HEMIFACIAL SPASM, FAMILIAL %141400 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS %141350 HEMIFACIAL HYPERPLASIA WITH STRABISMUS; HFH %141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA #141200 HEMATURIA, BENIGN FAMILIAL; BFH Gene map locus 2q36-q37 141000 HEMANGIOMA-THROMBOCYTOPENIA SYNDROME 140900 HEMANGIOMAS OF SMALL INTESTINE 140850 HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE #140700 HEINZ BODY ANEMIAS 140600 OSTEOARTHRITIS OF DISTAL INTERPHALANGEAL JOINTS HEBERDEN NODES, INCLUDED Gene map locus 2q12-q13 140500 HEART, MALFORMATION OF 140450 HEART-HAND SYNDROME, SPANISH TYPE %140400 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE II; PFHB2 #140350 HAWKINSINURIA Gene map locus 12q24-qter #140340 HAW RIVER SYNDROME %140300 HASHIMOTO THYROIDITIS THYROID AUTOANTIBODIES, INCLUDED Gene map locus 8q23-q24, 2q33 #140000 HAND-FOOT-UTERUS SYNDROME Gene map locus 7p15-p14.2 139800 HAND CLASPING PATTERN 139750 HAND AND FOOT DEFORMITY WITH FLAT FACIES 139630 HAIRY NOSE TIP %139600 HAIRY ELBOWS 139500 HAIRY EARS 139450 HAIR, CURLY 139400 HAIR WHORL DOUBLE HAIR WHORL, INCLUDED #139393 GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, CHRONIC, INCLUDED; CIDP, INCLUDED #139300 AROMATASE EXCESS SYNDROME; AEXS GYNECOMASTIA, FAMILIAL, DUE TO INCREASED AROMATASE ACTIVITY, INCLUDED Gene map locus 15q21.1 139280 GUANYLATE KINASE 2; GUK2 Gene map locus 1q32.1-q42 139210 GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE %139100 GRAYING OF HAIR, PRECOCIOUS %139090 GRAY PLATELET SYNDROME; GPS 139000 GRANULOSIS RUBRA NASI 138990 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL DOMINANT TYPE 138972 CCAAT/ENHANCER-BINDING PROTEIN, GAMMA; CEBPG 138930 GRANT SYNDROME 138920 GRANDDAD SYNDROME %138900 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1 Gene map locus 4q25 %138800 GOITER, MULTINODULAR 1; MNG1 Gene map locus 14q 138790 GOITER, MULTINODULAR, CYSTIC RENAL DISEASE AND DIGITAL ANOMALIES 138770 GMS SYNDROME 138710 GLYCOPROTEIN, RENAL 138500 GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS 138391 GLUTATHIONE S-TRANSFERASE 6 138340 GLUTATHIONE TRANSFERASE ACTIVITY TOWARD TRANS-STILBENE OXIDE 138277 GLUTAMIC ACID DECARBOXYLASE, BRAIN, MEMBRANE FORM 138110 GLUCOSE-6-PHOSPHATE DEHYDROGENASE-LIKE; G6PDL Gene map locus Chr.17 138070 GLUCOGLYCINURIA 138060 GLUCOCORTICOID RECEPTOR-LIKE 1; GRLL1 Gene map locus Chr.16 #138000 GLOMUVENOUS MALFORMATIONS; GVM Gene map locus 1p22-p21 %137950 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1 137940 GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES #137920 RENAL CYSTS AND DIABETES SYNDROME Gene map locus 17q12 137900 GLOBULIN ANOMALY INVOLVING BETA (2A)-GLOBULIN #137800 GLIOMA OF BRAIN, FAMILIAL GLIOBLASTOMA MULTIFORME, INCLUDED; GLM, INCLUDED; GBM, INCLUDED Gene map locus 17q21.1, 15q23-q26.3, 10q26, 10q25.3-q26.1, 10q24, 10q23.31, 10p15.1, 3p25 137765 GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME; GEMSS 137763 GLAUCOMA AND SLEEP APNEA #137760 GLAUCOMA, PRIMARY OPEN ANGLE; POAG GLAUCOMA 1, OPEN ANGLE, E, INCLUDED; GLC1E, INCLUDED Gene map locus 10p15-p14, 2cen-q13, 2p22-p21 #137750 GLAUCOMA 1, OPEN ANGLE, A; GLC1A GLAUCOMA 1, OPEN ANGLE, L, INCLUDED; GLC1L, INCLUDED Gene map locus 1q24.3-q25.2, 9q34.1, 2p22-p21 137700 GLAUCOMA WITH ELEVATED EPISCLERAL VENOUS PRESSURE #137600 IRIDOGONIODYSGENESIS, TYPE 2; IRID2 Gene map locus 4q25-q26 #137580 GILLES DE LA TOURETTE SYNDROME; GTS CHRONIC MOTOR TICS, INCLUDED Gene map locus 13q31, 11q23 %137575 GIGANTIFORM CEMENTOMA, FAMILIAL 137560 GIANT PLATELET SYNDROME WITH THROMBOCYTOPENIA 137550 GIANT PIGMENTED HAIRY NEVUS; GPHN %137500 GIANT NEUTROPHIL LEUKOCYTES #137440 GERSTMANN-STRAUSSLER DISEASE; GSD Gene map locus 20pter-p12 137400 GEOGRAPHIC TONGUE AND FISSURED TONGUE GLOSSITIS, BENIGN MIGRATORY, INCLUDED 137370 GENU VALGUM, ST. HELENA FAMILIAL 137360 GENOCHONDROMATOSIS #137357 GENITOURINARY DYSPLASIA COMPONENT OF WAGR SYNDROME; GUD 137280 GASTRITIS, FAMILIAL GIANT HYPERTROPHIC 137270 GASTROCUTANEOUS SYNDROME 137245 GASTRIC LYMPHOMA, PRIMARY 137220 GASTRIC JUICE PEPTIDES #137215 GASTRIC CANCER Gene map locus 17q21.1, 16q22.1, 12p12.1, 10q26, 10p15, 5q31.1, 5q21-q22, 1p34.3-p32.1, 3q26.3, 2q33-q34, 2q14.2, 2q14 137210 GASTRIC VOLVULUS, INTRATHORACIC 137200 GAMSTORP-WOHLFART SYNDROME 137130 GASTRIC SNEEZING %137100 IMMUNOGLOBULIN A DEFICIENCY 1; IGAD1 Gene map locus 6p21.3 137050 GAMMA-A-GLOBULIN, DEFECT IN ASSEMBLY OF 137040 GALLBLADDER, AGENESIS OF 137030 GALACTOSE + ACTIVATOR; GLAT Gene map locus 2p22-p11 137000 FUTCHER LINE #136900 FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY; SFD Gene map locus 22q12.1-q13.2 #136880 FUNDUS ALBIPUNCTATUS RETINITIS PUNCTATA ALBESCENS, INCLUDED Gene map locus 15q26, 12q13-q14, 6p21.1-cen 136830 FUCOSIDASE REGULATOR #136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1 Gene map locus 1p34.3-p32.3 136770 FRIEND MURINE LEUKEMIA VIRUS INTEGRATION SITE 3, MOUSE, HOMOLOG OF; FIM3 Gene map locus 3q27 136760 FRONTONASAL DYSPLASIA 136750 FRIEND MURINE LEUKEMIA VIRUS INTEGRATION SITE 1, MOUSE, HOMOLOG OF; FIM1 Gene map locus 6p23-p22.3 #136680 FRASIER SYNDROME Gene map locus 11p13 #136670 FRAGILE SITE: ADDITIONAL TYPES #136660 FRAGILE SITE 17p12 #136640 FRAGILE SITE 9q32 #136630 MENTAL RETARDATION, FRA12A TYPE Gene map locus 12q13.12 #136620 FRAGILE SITE 10q25 #136610 FRAGILE SITE 2q11 136600 FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURAL DEAFNESS #136590 FRAGILE SITE 20p11 #136580 FRAGILE SITE 16q22; FRA16A #136570 FRAGILE SITE 16p12 #136560 FRAGILE SITE 11q13 %136550 MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1 Gene map locus 6q14-q16.2 #136540 FRAGILE SITE 10q23 #136520 FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME FOVEAL HYPOPLASIA, ISOLATED, INCLUDED Gene map locus 11p13 %136500 FOCAL FACIAL DERMAL DYSPLASIA 136480 FOURTH CRANIAL NERVE PALSY, FAMILIAL CONGENITAL 136400 FOCAL EPITHELIAL HYPERPLASIA OF THE ORAL MUCOSA %136300 FLYNN-AIRD SYNDROME 136200 FLUSHING OF EARS AND SOMNOLENCE 136150 FLOOD FACTOR DEFICIENCY 136140 FLOATING-HARBOR SYNDROME #136120 FISH-EYE DISEASE; FED Gene map locus 16q22.1 136100 FINGERS, RELATIVE LENGTH OF %136000 FINGERPRINTS, ABSENCE OF 135950 FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION AND PROPORTIONATE SHORT STATURE %135900 COFFIN-SIRIS SYNDROME 135800 FIBULA, RECURRENT DISLOCATION OF HEAD OF %135750 LAURIN-SANDROW SYNDROME LAURIN-SANDROW SYNDROME, SEGMENTAL, INCLUDED Gene map locus 14q13, 14q13 #135700 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1; CFEOM1 Gene map locus 12q12 135610 FIBRONECTIN-LIKE 2; FNL2 Gene map locus 11q12.1-q13.5 135580 FIBROMUSCULAR DYSPLASIA OF ARTERIES %135550 FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS %135500 ZIMMERMANN-LABAND SYNDROME; ZLS Gene map locus 3p14.3 135400 FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS #135300 FIBROMATOSIS, GINGIVAL, 1; GINGF Gene map locus 5q13-q22, 2p22-p21 #135290 DESMOID DISEASE, HEREDITARY DESMOID TUMOR CAUSED BY SOMATIC MUTATION, INCLUDED Gene map locus 5q21-q22 #135150 BIRT-HOGG-DUBE SYNDROME; BHD Gene map locus 17p11.2 #135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP Gene map locus 2q23-q24 134900 FIBRINOLYTIC DEFECT 134780 FEMORAL-FACIAL SYNDROME; FFS 134750 FELTY SYNDROME 134720 FECUNDITY GENE, BOOROOLA, OF SHEEP, HOMOLOG OF Gene map locus 4q21-q25 134700 FAVISM, SUSCEPTIBILITY TO #134610 FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT %134600 FANCONI RENOTUBULAR SYNDROME LUDER-SHELDON SYNDROME, INCLUDED Gene map locus 15q15.3 134540 FACTOR IX AND FACTOR XI, COMBINED DEFICIENCY OF 134520 FACTORS VIII, IX AND XI, COMBINED DEFICIENCY OF 134510 FACTOR VIII AND FACTOR IX, COMBINED DEFICIENCY OF; F8FD9 134500 FACTOR VIII DEFICIENCY 134430 FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF 134400 FACTOR V EXCESS WITH SPONTANEOUS THROMBOSIS 134300 FACIAL SPASM %134200 FACIAL PALSY, FAMILIAL RECURRENT PERIPHERAL 134000 FACIAL HYPERTRICHOSIS 133900 FACIAL ASYMMETRY 133800 EYEBROW, WHORL IN #133780 EXUDATIVE VITREORETINOPATHY 1; EVR1 RETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED Gene map locus 11q14-q21 133750 EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATION AND MICROCEPHALY 133705 EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS #133701 EXOSTOSES, MULTIPLE, TYPE II Gene map locus 11p12-p11 #133700 EXOSTOSES, MULTIPLE, TYPE I Gene map locus 8q24.11-q24.13 133690 EXOSTOSES WITH ANETODERMIA AND BRACHYDACTYLY, TYPE E 133600 EXOSTOSES OF HEEL #133540 COCKAYNE SYNDROME, TYPE B; CSB Gene map locus 10q11 %133500 EXCHONDROSIS OF PINNA, POSTERIOR 133300 ESTERASE ES-2, REGULATOR FOR 133270 ESTERASE C; ESC 133260 ESTERASE B; ESB 133240 ESOPHAGEAL RING, LOWER #133239 ESOPHAGEAL CANCER ESOPHAGEAL SQUAMOUS CELL CARCINOMA, INCLUDED; ESCC, INCLUDED Gene map locus 16q23.3-q24.1, 13q12.11, 9q32, 8p22, 3p22-p21.3, 3p22 #133200 ERYTHROKERATODERMIA VARIABILIS; EKV ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, INCLUDED Gene map locus 1p35.1, 1p35.1 %133190 ERYTHROKERATODERMIA WITH ATAXIA 133180 ERYTHROLEUKEMIA, FAMILIAL #133100 ERYTHROCYTOSIS, FAMILIAL, 1 Gene map locus 19p13.3-p13.2 #133020 ERYTHERMALGIA, PRIMARY Gene map locus 2q24 %133000 ERYTHEMA PALMARE HEREDITARIUM 132990 ERYTHEMA NODOSUM, FAMILIAL #132900 AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4 Gene map locus 16p13.13-p13.12 132860 EPSTEIN-BARR VIRUS MODIFICATION SITE 1; EBVM1 Gene map locus 11q23.1 132850 EPSTEIN-BARR VIRUS INSERTION SITE 1; EBVS1 EPSTEIN-BARR VIRUS INTEGRATION SITE Gene map locus 1p35 %132800 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA; MSSE Gene map locus 9q31 #132700 CYLINDROMATOSIS, FAMILIAL Gene map locus 16q12-q13 #132600 PILOMATRIXOMA Gene map locus 1p34.3-p32.1, 3p22-p21.3 132500 EPISTAXIS, HEREDITARY #132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS Gene map locus 12q13.11-q13.2 #132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1 EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE, INCLUDED Gene map locus 19p13.1 132300 EPILEPSY, READING 132100 EPILEPSY, PHOTOGENIC 132090 EPILEPSY, BENIGN OCCIPITAL; BOE #132000 EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS Gene map locus 3p21.3 #131960 EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBS-MP Gene map locus 12q13 #131950 EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE Gene map locus 8q24 #131900 EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; EBS2 Gene map locus 17q12-q21, 12q13 131880 EPIDERMOLYSIS BULLOSA WITH DEFICIENCY OF GALACTOSYLHYDROXYLYSYL GLUCOSYLTRANSFERASE #131850 EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL Gene map locus 3p21.3 #131800 EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE Gene map locus 17q12-q21, 17q11-qter, 12q13 #131760 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE Gene map locus 17q12-q21, 12q13 #131750 EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE, INCLUDED; EBDSC, INCLUDED Gene map locus 3p21.3 #131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN Gene map locus 3p21.3 131600 EPIDERMOID CYSTS %131500 EPICANTHUS 131460 EPIBLEPHARON OF UPPER LID 131450 EPIBLEPHARON OF LOWER LID 131445 EPENDYMOMA, FAMILIAL #131440 MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA Gene map locus 5q31-q32 131430 EOSINOPHILOPENIA %131400 EOSINOPHILIA, FAMILIAL Gene map locus 5q31-q33 131375 ENOLASE, SPERM SPECIFIC; ENO4 #131300 CAMURATI-ENGELMANN DISEASE Gene map locus 19q13.1 %131200 ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1 Gene map locus 10q26 130950 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD #130900 AMELOGENESIS IMPERFECTA, TYPE III; AI3 Gene map locus 8q24.3, 8q24.3 %130720 LATERAL MENINGOCELE SYNDROME 130710 EMPHYSEMA, CONGENITAL LOBAR; CLE 130700 EMPHYSEMA, HEREDITARY PULMONARY #130650 BECKWITH-WIEDEMANN SYNDROME; BWS BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION, INCLUDED; BWCR, INCLUDED Gene map locus 11p15.5, 11p15.5, 11p15.5, 5q35 #130600 ELLIPTOCYTOSIS, RHESUS-UNLINKED TYPE Gene map locus 1q21 130400 ELECTROENCEPHALOGRAPHIC PECULIARITY: OCCIPITAL SLOW BETA WAVES 130300 ELECTROENCEPHALOGRAPHIC PECULIARITY: FRONTO-PRECENTRAL BETA WAVE GROUPS 130200 ELECTROENCEPHALOGRAPHIC PECULIARITY: 14 AND 6 PER SEC. POSITIVE SPIKE PHENOMENON #130190 ELECTROENCEPHALOGRAPHIC PATTERNS; EEG %130180 ELECTROENCEPHALOGRAM, LOW-VOLTAGE Gene map locus 20q13.2-q13.3 130100 ELASTOSIS PERFORANS SERPIGINOSA; EPS 130090 EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED %130080 EHLERS-DANLOS SYNDROME, TYPE VIII Gene map locus 12p13 #130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM Gene map locus 5q35.2-q35.3 #130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT EDS VIIB, INCLUDED; EDS7B, INCLUDED Gene map locus 17q21.31-q22, 7q22.1 #130050 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT Gene map locus 2q31 #130020 EHLERS-DANLOS SYNDROME, TYPE III Gene map locus 6p21.3, 2q31 #130010 EHLERS-DANLOS SYNDROME, TYPE II Gene map locus 9q34.2-q34.3 #130000 EHLERS-DANLOS SYNDROME, TYPE I Gene map locus 17q21.31-q22, 9q34.2-q34.3, 2q31 129905 EGASYN %129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Gene map locus 7q11.2-q21.3 #129850 EDINBURGH MALFORMATION SYNDROME 129840 EDEMA, FAMILIAL IDIOPATHIC, PREPUBERTAL 129830 ECTRODACTYLY-CLEFT PALATE SYNDROME 129810 ECTRODACTYLY AND ECTODERMAL DYSPLASIA WITHOUT CLEFT LIP/PALATE #129750 ECTOPIA PUPILLAE Gene map locus 11p13 #129600 ECTOPIA LENTIS, ISOLATED Gene map locus 15q21.1 129550 ECTODERMAL DYSPLASIA WITH ADRENAL CYST 129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE AND PREAXIAL POLYDACTYLY OF FEET 129510 ECTODERMAL DYSPLASIA, TRICHOODONTOONYCHIAL TYPE AMASTIA, INCLUDED #129500 ECTODERMAL DYSPLASIA 2, HIDROTIC; ED2 Gene map locus 13q12 #129490 ECTODERMAL DYSPLASIA 3; ED3 Gene map locus 2q11-q13, 1q42.2-q43 #129400 RAPP-HODGKIN SYNDROME; RHS OROFACIAL CLEFT 8, INCLUDED; OFC8, INCLUDED Gene map locus 3q27 %129200 ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS, AND SIMIAN CREASE %129150 ECHO VIRUS 11 SENSITIVITY; E11S Gene map locus 19q13.1-qter 129100 EARS, ABILITY TO MOVE 129000 EARRING HOLES, NATURAL %128980 EARLOBES, THICKENED, WITH CONDUCTIVE DEAFNESS FROM INCUDOSTAPEDIAL ABNORMALITIES 128950 EARLOBE CREASE 128900 EARLOBE ATTACHMENT: ATTACHED VS UNATTACHED 128800 EAR WITHOUT HELIX 128710 EAR PITS, POSTERIOR HELICAL %128700 PREAURICULAR FISTULAE, CONGENITAL Gene map locus 8q11.1-q13.3 %128600 EAR MALFORMATION 128500 EAR FOLDING 128400 EAR FLARE 128300 EAR EXOSTOSES 128290 EAR ANTITRAGUS, TAG AT BASE OF #128235 DYSTONIA 12; DYT12 Gene map locus 19q12-q13.2 #128230 DYSTONIA, DOPA-RESPONSIVE; DRD Gene map locus 14q22.1-q22.2 %128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1 Gene map locus 16p11.2-q12.1 %128101 DYSTONIA MUSCULORUM DEFORMANS 4; DYT4 #128100 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1 Gene map locus 9q34 %128000 DYSTELEPHALANGY 127820 DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS 127800 DYSPLASIA EPIPHYSEALIS HEMIMELICA #127750 DEMENTIA, LEWY BODY; DLB DIFFUSE LEWY BODY DISEASE WITH GAZE PALSY, INCLUDED Gene map locus 5q35, 4q21 #127700 DYSLEXIA, SUSCEPTIBILITY TO, 1; DYX1 DYSLEXIA, SUSCEPTIBILITY TO, 4, INCLUDED; DYX4, INCLUDED Gene map locus 15q21 %127600 DYSKERATOSIS, HEREDITARY BENIGN INTRAEPITHELIAL Gene map locus 4q35 #127550 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT Gene map locus 14q12, 5p15.33, 3q21-q28 %127500 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA Gene map locus 6q24.2-q25.2 #127400 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 Gene map locus 1q21.3 127350 DYSCHONDROSTEOSIS AND NEPHRITIS #127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD MADELUNG DEFORMITY, INCLUDED Gene map locus Ypter-p11.2, Xpter-p22.32 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES 127100 DWARFISM, LEVI TYPE %127000 KENNY-CAFFEY SYNDROME, TYPE 2 126950 DWARFISM WITH TALL VERTEBRAE %126900 DUPUYTREN CONTRACTURE DUPUYTREN CONTRACTURE 1, INCLUDED; DUPC1, INCLUDED Gene map locus 16q11.1-q22 %126850 DUODENAL ULCER, HYPERPEPSINOGENEMIC I 126840 DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION %126800 DUANE RETRACTION SYNDROME 1; DURS1 Gene map locus 8q13 #126700 BASAL LAMINAR DRUSEN Gene map locus 1q32 #126600 DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD MALATTIA LEVENTINESE, INCLUDED; MLVT, INCLUDED Gene map locus 2p16 %126550 DOUGHNUT LESIONS OF SKULL, FAMILIAL 126500 DOUBLE NAIL FOR FIFTH TOE 126410 DNA, SATELLITE, ALPHA TYPE 126390 DNA, LOW-REPETITIVE SEQUENCES OF 126370 DNA, SATELLITE, III; HS3; D1Z1 126320 DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERAL VASCULATURE %126300 DISTICHIASIS 126250 DISTAL OSTEOSCLEROSIS #126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Gene map locus 1q31-q32, 16p13, 6q21, 6p21.3, 6p21.3, 5p13 126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS 126180 DISCRIMINATION, TWO-POINT, REDUCTION IN 126100 DIMPLES, FACIAL %126070 DILUTION, PIGMENTARY %126050 DIGITOTALAR DYSMORPHISM 125900 DIASTEMA, DENTAL MEDIAL 125890 DIARRHEA, GLUCOSE-STIMULATED SECRETORY, WITH COMMON VARIABLE IMMUNODEFICIENCY #125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM INSULIN RESISTANCE, SUSCEPTIBILITY TO, INCLUDED Gene map locus 20q12-q13.1, 20q12-q13.1, 19q13.1-q13.2, 19p13.2, 17q25, 17q12, 15q21-q23, 13q34, 13q12.1, 12q24.2, 11p12-p11.2, 11p15.1, 11p15.1, 10q25.3, 8q24.11, 7p15-p13, 6q22-q23, 6p12, 6p22.3, 5q34-q35.2, 4p16.1, 3q28, 2q3620q12-q13.1, 20q12-q13.1, 19q13.1-q13.2, 19p13.2, 17q25, 17q12, 15q21-q23, 13q34, 13q12.1, 12q24.2, 11p12-p11.2, 11p15.1, 11p15.1, 10q25.3, 8q24.11, 7p15-p13, 6q22-q23, 6p12, 6p22.3, 5q34-q35.2, 4p16.1, 3q28, 2q %125852 DIABETES MELLITUS, INSULIN-DEPENDENT, 2 Gene map locus 11p15.5 #125851 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II; MODY2 DIABETES, GESTATIONAL, INCLUDED Gene map locus 7p15-p13 #125850 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1 Gene map locus 20q12-q13.1, 11p15.5 #125800 DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL Gene map locus 12q13 #125700 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE Gene map locus 20p13 125640 DERMOODONTODYSPLASIA 125635 DERMOGRAPHISM, FAMILIAL 125630 DERMODISTORTIVE URTICARIA; DDU 125600 DERMATOSIS PAPULOSA NIGRA #125595 DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR Gene map locus 17q12-q21 %125590 DERMATOGLYPHICS--FINGERPRINT PATTERN 125580 DERMATOGLYPHICS--FINGER RIDGE COUNT 125570 DERMATOGLYPHICS--ARCH ON ANY DIGIT %125550 DERMAL RIDGES-OFF-THE-END %125540 DERMAL RIDGES, PATTERNLESS 125530 DERMAL RIDGES, NELSON SYNDROME %125520 CAYLER CARDIOFACIAL SYNDROME Gene map locus 22q11 #125500 DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III Gene map locus 4q21.3 #125490 DENTINOGENESIS IMPERFECTA 1; DGI1 Gene map locus 4q21.3 %125480 MAJOR AFFECTIVE DISORDER 1; MAFD1 Gene map locus 18p, 5p15.3, 22q12 125460 DEOXYRIBOSE-5-PHOSPHATE ALDOLASE DEFICIENCY %125440 DENTIN DYSPLASIA WITH SCLEROTIC BONES #125420 DENTIN DYSPLASIA, TYPE II Gene map locus 4q21.3 %125400 DENTIN DYSPLASIA, TYPE I #125370 DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA Gene map locus 12p13.31 125350 DENTAL NONERUPTION 125320 DEMENTIA/PARKINSONISM WITH NON-ALZHEIMER AMYLOID PLAQUES #125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CADASIL Gene map locus 19p13.2-p13.1 125300 DENS IN DENTE AND PALATAL INVAGINATIONS 125280 DENS EVAGINATUS %125260 DEFECTIVE INTERFERING PARTICLE INDUCTION, CONTROL OF Gene map locus Chr.16 #125250 OPTIC ATROPHY 1 AND DEAFNESS OPTIC ATROPHY, DEAFNESS, OPHTHALMOPLEGIA, AND MYOPATHY, INCLUDED Gene map locus 3q28-q29 125230 DEAFNESS-CRANIOFACIAL SYNDROME 125050 DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA 125000 DEAFNESS, UNILATERAL 124950 DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE #124900 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 1; DFNA1 Gene map locus 5q31 %124800 DEAFNESS, PROGRESSIVE HIGH-TONE NEURAL %124700 DEAFNESS, MID-TONE NEURAL #124500 DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES Gene map locus 13q11-q12 124490 DEAFNESS, CONDUCTIVE STAPEDIAL, WITH EAR MALFORMATION AND FACIAL PALSY %124480 DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, AUTOSOMAL DOMINANT 124400 DARWINIAN TUBERCLE OF PINNA 124300 DARWINIAN POINT OF PINNA #124200 DARIER-WHITE DISEASE; DAR DARIER DISEASE, ACRAL HEMORRHAGIC TYPE, INCLUDED Gene map locus 12q23-q24.1 124100 DANUBIAN ENDEMIC FAMILIAL NEPHROPATHY #124000 MITOCHONDRIAL COMPLEX III DEFICIENCY Gene map locus 8q22, 5q31.1, 2q33 123880 CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE 123853 CYPRUS FACIAL NEUROMUSCULOSKELETAL SYNDROME #123790 CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON Gene map locus 10q26 #123700 CUTIS LAXA, AUTOSOMAL DOMINANT Gene map locus 14q32.1, 7q11.2 %123570 CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED 123560 CRYPTOMICROTIA-BRACHYDACTYLY SYNDROME 123557 CRYPTOTIA, FAMILIAL %123550 CRYOGLOBULINEMIA, FAMILIAL MIXED 123540 CRYOFIBRINOGENEMIA, FAMILIAL PRIMARY #123500 CROUZON SYNDROME PSEUDO-CROUZON SYNDROME, INCLUDED Gene map locus 10q26 #123450 CRI-DU-CHAT SYNDROME Gene map locus 5p15.2 #123400 CREUTZFELDT-JAKOB DISEASE; CJD CREUTZFELDT-JAKOB DISEASE, SPORADIC, INCLUDED; sCJD, INCLUDED Gene map locus 20pter-p12, 6p21.3 #123320 CREATINE PHOSPHOKINASE, ELEVATED SERUM Gene map locus 3p25 123270 CREATINE KINASE, BRAIN TYPE, ECTOPIC EXPRESSION OF; CKBE Gene map locus 14q32 123155 CRANIOSYNOSTOSIS, SAGITTAL, WITH DANDY-WALKER MALFORMATION AND HYDROCEPHALUS #123150 JACKSON-WEISS SYNDROME; JWS Gene map locus 10q26, 8p11.2-p11.1 #123100 CRANIOSYNOSTOSIS, TYPE 1; CRS1 SCAPHOCEPHALY, INCLUDED Gene map locus 7p21.3-p21.2 123050 CRANIORHINY #123000 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD Gene map locus 5p15.2-p14.1 122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA #122880 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS Gene map locus 2q35 122860 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CDD 122850 CRANIOACROFACIAL SYNDROME 122780 COXOAURICULAR SYNDROME %122750 COXA VARA #122700 COUMARIN RESISTANCE WARFARIN SENSITIVITY, INCLUDED Gene map locus 19q13.2, 16p11.2, 10q24 %122600 COSTOVERTEBRAL SEGMENTATION ANOMALIES POLYDYSSPONDYLY, INCLUDED 122580 COSTOCORACOID LIGAMENT, CONGENITALLY SHORT 122550 CORTICOSTERONE SIDE-CHAIN ISOMERASE; CSCI Gene map locus 6p #122470 CORNELIA DE LANGE SYNDROME 1; CDLS1 Gene map locus 5p13.1 %122460 CORONAVIRUS 229E SUSCEPTIBILITY; CVS Gene map locus 15q11-qter 122455 CORONARY ARTERY DISSECTION, SPONTANEOUS %122450 CORNEAL HYPESTHESIA, FAMILIAL 122440 CORNEODERMATOOSSEOUS SYNDROME 122430 CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS, UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION %122400 CORNEAL EROSIONS, RECURRING HEREDITARY #122200 CORNEAL DYSTROPHY, LATTICE TYPE I; CDL1 Gene map locus 5q31 #122100 CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN Gene map locus 17q12, 12q13 #122000 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1; PPCD1 Gene map locus 20p11.2, 1p34.3-p32.3 #121900 GROENOUW TYPE I CORNEAL DYSTROPHY; CDGG1 Gene map locus 5q31 #121850 CORNEAL FLECK DYSTROPHY Gene map locus 2q35 #121820 CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE Gene map locus 5q31 #121800 CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER Gene map locus 1p36.3 %121700 CORNEAL ENDOTHELIAL DYSTROPHY 1; CHED1 Gene map locus 20p11.2-q11.2 121450 CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS %121400 CORNEA PLANA 1; CNA1 %121390 CORNEA GUTTATA WITH ANTERIOR POLAR CATARACTS 121350 CORACOCLAVICULAR JOINT, ANOMALOUS 121270 COPPER DEFICIENCY, FAMILIAL BENIGN %121210 FEBRILE CONVULSIONS, FAMILIAL, 1; FEB1 Gene map locus 8q13-q21 #121201 EPILEPSY, BENIGN NEONATAL, 2; EBN2 Gene map locus 8q24 #121200 EPILEPSY, BENIGN NEONATAL, 1; EBN1 Gene map locus 20q13.3 121070 ARTHROGRYPOSIS, DISTAL, TYPE 2E #120970 CONE-ROD DYSTROPHY 2; CORD2 Gene map locus 19q13.3 #120790 COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF %120502 BRANCHIOOTIC SYNDROME 2 Gene map locus 1q31 120500 COMMISSURAL LIP PITS %120450 COMEDONES, FAMILIAL DYSKERATOTIC 120440 COLONIC VARICES WITHOUT PORTAL HYPERTENSION #120435 LYNCH SYNDROME I LYNCH SYNDROME II, INCLUDED Gene map locus 2p22-p21 120433 COLOBOMA, UVEAL, WITH CLEFT LIP AND PALATE AND MENTAL RETARDATION #120430 COLOBOMA OF OPTIC NERVE OPTIC NERVE HEAD PITS, BILATERAL CONGENITAL, INCLUDED 120400 COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY #120330 PAPILLORENAL SYNDROME RENAL HYPOPLASIA, ISOLATED, INCLUDED Gene map locus 10q24.3-q25.1 %120300 COLOBOMA OF MACULA #120200 COLOBOMA, OCULAR Gene map locus 11p13, 8q22.1, 7q36 #120100 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 Gene map locus 1q44 #120080 COLCHICINE RESISTANCE %120050 COXSACKIEVIRUS B3 SUSCEPTIBILITY; CXB3S Gene map locus 19pter-q13 120040 COCHLEOSACCULAR DEGENERATION OF THE INNER EAR WITH PROGRESSIVE CATARACTS 120000 COARCTATION OF AORTA %119915 CLUSTER HEADACHE, FAMILIAL %119900 CLUBBING OF DIGITS 119800 CLUBFOOT 119650 CLEIDORHIZOMELIC SYNDROME #119600 CLEIDOCRANIAL DYSPLASIA; CCD CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED Gene map locus 6p21 %119580 BLEPHAROCHEILODONTIC SYNDROME 119570 CLEFT SOFT PALATE %119550 CLEFT PALATE-LATERAL SYNECHIA SYNDROME #119540 CLEFT PALATE, ISOLATED; CPI CLEFT PALATE, ISOLATED, AND MENTAL RETARDATION, INCLUDED Gene map locus 17p12-p11.1, 2q33 %119530 OROFACIAL CLEFT 1; OFC1 Gene map locus 6p24.3, 1q43 #119500 POPLITEAL PTERYGIUM SYNDROME; PPS Gene map locus 1q32-q41 #119300 VAN DER WOUDE SYNDROME; VWS Gene map locus 1q32-q41 %119100 SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1 Gene map locus 1q42.2-q43 %119000 CLEFT CHIN 118980 CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL 118943 CHYMOSIN PSEUDOGENE; CYMP PROCHYMOSIN, INCLUDED Gene map locus Chr.1 118900 CIRRHOSIS, FAMILIAL 118865 CHOROIDAL OSTEOMA, BILATERAL %118840 CHROMATE RESISTANCE; CHR Gene map locus 5q35 %118830 CHYLOMICRONEMIA, FAMILIAL, DUE TO CIRCULATING INHIBITOR OF LIPOPROTEIN LIPASE #118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1 Gene map locus 2q35 118750 CHOREOATHETOSIS, FAMILIAL INVERTED #118700 CHOREA, BENIGN HEREDITARY; BHC Gene map locus 14q13 118670 CHONDRONECTIN 118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE 118650 CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT CHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY, INCLUDED 118610 CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION #118600 CHONDROCALCINOSIS 2; CCAL2 Gene map locus 5p15.2-p14.1 #118450 ALAGILLE SYNDROME 1; ALGS1 Gene map locus 20p12 118430 CHLORPROPAMIDE-ALCOHOL FLUSHING; CPAF %118420 CHIARI MALFORMATION TYPE I CHIARI MALFORMATION TYPE I WITH SYRINGOMYELIA, INCLUDED #118400 CHERUBISM Gene map locus 4p16.3 118350 CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS 118330 CHEILITIS GLANDULARIS 118301 CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM #118300 CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS Gene map locus 17p11.2 118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE #118220 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A Gene map locus 17p11.2 #118210 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1 Gene map locus 1p36.2 #118200 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B Gene map locus 1q22 %118100 KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 118005 CERVICAL VERTEBRAL DYSPLASIA 118000 CERVICAL VERTEBRAL BRIDGE 117900 CERVICAL RIB 117850 CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS #117800 EAR WAX, WET/DRY Gene map locus 16q12.1 117650 CEREBROCOSTOMANDIBULAR SYNDROME 117600 CEREBRAL SARCOMA #117550 SOTOS SYNDROME Gene map locus 5q35 %117360 SPINOCEREBELLAR ATAXIA 29 Gene map locus 3p26 #117300 DEMENTIA, FAMILIAL DANISH; FDD Gene map locus 13q14 #117210 SPINOCEREBELLAR ATAXIA, 16q22-LINKED Gene map locus 16q22.1 %117100 CENTRALOPATHIC EPILEPSY #117000 CENTRAL CORE DISEASE OF MUSCLE MINICORE MYOPATHY, MODERATE, WITH HAND INVOLVEMENT, INCLUDED Gene map locus 19q13.1 %116950 TEMPERATURE-SENSITIVE AF8 COMPLEMENT; AF8T Gene map locus Chr.3 #116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD Gene map locus 21q22.3 116870 CELIAC ARTERY STENOSIS FROM COMPRESSION BY MEDIAN ARCUATE LIGAMENT OF DIAPHRAGM #116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM CEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED Gene map locus 7q11.2-q21 116850 CATATRICHY #116800 CATARACT, LAMELLAR CATARACT, MARNER TYPE, INCLUDED Gene map locus 16q21-q22.1 116700 CATARACT, TOTAL CONGENITAL; CC %116600 CATARACT, POSTERIOR POLAR, 1; CTPP1 Gene map locus 1pter-p36.1 %116400 CATARACT, NUCLEAR TOTAL %116300 CATARACT, NUCLEAR DIFFUSE NONPROGRESSIVE #116200 CATARACT, ZONULAR PULVERULENT 1; CZP1 Gene map locus 1q21.1 #116150 CATARACT-MICROCORNEA SYNDROME 116100 CATARACT, MEMBRANOUS %115900 CATARACT, FLORIFORM %115800 CATARACT, CRYSTALLINE CORALLIFORM #115700 CATARACT, CRYSTALLINE ACULEIFORM Gene map locus 2q33-q35 %115665 CATARACT, CONGENITAL, VOLKMANN TYPE; CCV Gene map locus 1pter-p36.13 %115660 CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1 Gene map locus 17q24 %115650 CATARACT, ANTERIOR POLAR, 1; CTAA1 Gene map locus 14q24-qter 115645 CATARACT, ABERRANT ORAL FRENULA, AND GROWTH RETARDATION #115470 CAT EYE SYNDROME; CES Gene map locus 22q11 %115430 CARPAL TUNNEL SYNDROME; CTS1 115400 CARPAL DISPLACEMENT #115310 PARAGANGLIOMAS 4; PGL4 Gene map locus 1p36.1-p35 115300 CAROTENEMIA, FAMILIAL 115250 CARDIOMYOPATHY-HYPOGONADISM-COLLAGENOMA SYNDROME COLLAGENOMA, FAMILIAL CUTANEOUS, INCLUDED #115210 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 Gene map locus 19q13.4 #115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A Gene map locus 1q21.2, 11p11.2 #115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4 Gene map locus 11p11.2 #115196 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3 Gene map locus 15q22.1 #115195 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2 Gene map locus 1q32 #115150 CARDIOFACIOCUTANEOUS SYNDROME Gene map locus 7q34 #115080 CARDIAC CONDUCTION DEFECT SUDDEN CARDIAC DEATH, INCLUDED; SCD, INCLUDED 115000 CARDIAC ARRHYTHMIA #114900 CARCINOID TUMORS, INTESTINAL Gene map locus 11q23 114700 CARABELLI ANOMALY OF MAXILLARY MOLAR TEETH 114650 CAR FACTOR DEFICIENCY 114620 CANTU SYNDROME %114600 CANINE TEETH, ABSENCE OF UPPER PERMANENT %114580 CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT #114550 HEPATOCELLULAR CARCINOMA HEPATOBLASTOMA, INCLUDED Gene map locus 17p13.1, 16p13.3, 8p22-p21.3, 7q31, 3q26.3, 3p22-p21.3, 2q33 #114500 COLORECTAL CANCER; CRC Gene map locus 20q13.2-q13.3, 18q21.1, 17q24, 17p11.2, 17p13.1, 15q15, 14q32.3, 14q24.3, 11p11.2, 9q32-q33, 1p13.2, 8p22-p21.3, 5q21-q22, 4q32, 3q26.3, 1p35, 2p25, 22q13 #114480 BREAST CANCER BREAST CANCER, FAMILIAL MALE, INCLUDED Gene map locus 17q22-q23, 17q22, 17p13.1, 16p12, 15q15.1, 14q32.3, 13q12.3, 12p12.1, 11q22.3, 11p15.5, 8q11, 5q33.2, 3q26.3, 2q34-q35, 2q33, 22q12.1 114450 CANCER, FAMILIAL, WITH IN VITRO RADIORESISTANCE %114300 GORDON SYNDROME #114290 CAMPOMELIC DYSPLASIA CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED Gene map locus 17q24.3-q25.1 %114200 CAMPTODACTYLY STREBLODACTYLY, INCLUDED %114150 CAMPTOBRACHYDACTYLY %114140 CALLOSITIES, HEREDITARY PAINFUL %114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET 114065 CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL 114030 CAFE-AU-LAIT SPOTS, MULTIPLE #114000 CAFFEY DISEASE PRENATAL CORTICAL HYPEROSTOSIS, LETHAL, INCLUDED Gene map locus 17q21.31-q22 #113970 BURKITT LYMPHOMA; BL Gene map locus 8q24.12-q24.13 113960 BUTYRYLESTERASE 1 %113950 BUNDLE BRANCH BLOCK, FAMILIAL ISOLATED COMPLETE RIGHT #113900 PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A HEART BLOCK, NONPROGRESSIVE, INCLUDED Gene map locus 19q13.2-q13.3, 3p21 #113800 BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQ EPIDERMOLYTIC HYPERKERATOSIS, LATE-ONSET, INCLUDED Gene map locus 17q21-q22, 12q13 #113750 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4; SHEP4 Gene map locus 15q21.1 113700 BREASTS AND NIPPLES, ABSENCE OF 113670 BREAST, UNILATERAL GIANT #113650 BRANCHIOOTORENAL SYNDROME 1; BOR1 Gene map locus 8q13.3 #113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS Gene map locus 6p24 113610 BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA 113600 BRANCHIAL CLEFT ANOMALIES BRANCHIAL CYSTS, INCLUDED 113500 BRACHYRACHIA 113480 BRACHYTELEPHALANGY WITH CHARACTERISTIC FACIES AND KALLMANN SYNDROME 113477 BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM SYNDROME 113475 BRACHYMETATARSUS IV 113470 BRACHYMESOMELIA-RENAL SYNDROME 113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME 113400 BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA 113310 BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA 113301 BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II #113300 BRACHYDACTYLY, TYPE E; BDE Gene map locus 2q31-q32 #113200 BRACHYDACTYLY, TYPE D; BDD Gene map locus 2q31-q32 #113100 BRACHYDACTYLY, TYPE C; BDC Gene map locus 20q11.2 #113000 BRACHYDACTYLY, TYPE B1; BDB1 Gene map locus 9q22 112910 BRACHYDACTYLY, TYPE A6; BDA6 %112900 BRACHYDACTYLY, TYPE A5, WITH NAIL DYSPLASIA %112800 BRACHYDACTYLY, TYPE A4; BDA4 %112700 BRACHYDACTYLY, TYPE A3; BDA3 #112600 BRACHYDACTYLY, TYPE A2; BDA2 Gene map locus 20q11.2, 4q23-q24 #112500 BRACHYDACTYLY, TYPE A1; BDA1 Gene map locus 5p13.3-p13.2, 2q33-q35 112450 BRACHYDACTYLY, PREAXIAL, WITH HALLUX VARUS AND THUMB ABDUCTION %112440 BRACHYDACTYLY, COMBINED B AND E TYPES 112430 BRACHYDACTYLY, LONG-THUMB TYPE %112410 HYPERTENSION WITH BRACHYDACTYLY Gene map locus 12p12.2-p11.2 112370 BRACHMANN-DE LANGE-LIKE FACIAL CHANGES WITH MICROCEPHALY, METATARSUS ADDUCTUS, AND DEVELOPMENTAL DELAY 112350 BOWING OF LEGS, ANTERIOR, WITH DWARFISM #112310 BOOMERANG DYSPLASIA Gene map locus 3p14.3 %112300 BOOK SYNDROME 112270 BONE PAIN, PERIODIC %112250 DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA Gene map locus 9p22-p21 112240 BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES %112200 BLUE RUBBER BLEB NEVUS #112100 BLOOD GROUP--Yt SYSTEM; YT Gene map locus 7q22 #112050 BLOOD GROUP--WRIGHT ANTIGEN; WR Gene map locus 17q21-q22 #112010 BLOOD GROUP--WALDNER TYPE; WD Gene map locus 17q21-q22 %112000 BLOOD GROUP--Ul SYSTEM; UL %111800 BLOOD GROUP--STOLTZFUS SYSTEM; Sf Gene map locus 4q28-q31 #111750 BLOOD GROUP--SCIANNA SYSTEM; SC Gene map locus 1p34 #111690 BLOOD GROUP--RHESUS SYSTEM E POLYPEPTIDE; RHE #111620 RADIN BLOOD GROUP ANTIGEN; RD Gene map locus 1p34 #111600 BLOOD GROUP--PUBLIC SYSTEMS #111500 BLOOD GROUP--PRIVATE SYSTEMS #111400 BLOOD GROUP, P SYSTEM P1 PHENOTYPE, INCLUDED Gene map locus 3q25, 22q13.2 #111380 BLOOD GROUP--OK; OK Gene map locus 19p13.3 111360 BLOOD GROUP--NEWFOUNDLAND; NFLD %111150 BLOOD GROUP--LUTHERAN INHIBITOR Gene map locus 11p %111130 BLOOD GROUP--LKE; LKE #110800 BLOOD GROUP--I SYSTEM; Ii ADULT i BLOOD GROUP PHENOTYPE, INCLUDED Gene map locus 6p24-p23 110720 BLOOD GROUP--En #110500 BLOOD GROUP--DIEGO SYSTEM; DI Gene map locus 17q21-q22 #110450 BLOOD GROUP--COLTON; CO Gene map locus 7p14 %110350 BLOOD GROUP--AHONEN; AN 110310 BLOOD GROUP--ABH ANTIGEN, TYPE 2 110250 BLOOD GROUP--ABO SUPPRESSOR 110150 BLEPHAROPTOSIS, MYOPIA, AND ECTOPIA LENTIS #110100 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES BPES, TYPE I, INCLUDED Gene map locus 3q23 110050 BLEPHARONASOFACIAL MALFORMATION SYNDROME 110000 BLEPHAROCHALASIS, SUPERIOR 109900 BLEPHAROCHALASIS AND DOUBLE LIP 109820 BLADDER DIVERTICULUM #109800 BLADDER CANCER Gene map locus 13q14.1-q14.2, 12p12.1, 11p15.5, 4p16.3 109740 BIFID NOSE #109730 AORTIC VALVE DISEASE Gene map locus 9q34.3 109720 BILIARY CIRRHOSIS, PRIMARY; PBC 109670 BETA-ADRENERGIC STIMULATION, RESPONSE TO; BAS Gene map locus Chr.21 %109660 BETA-AMINO ACIDS, RENAL TRANSPORT OF; AABT Gene map locus Chr.21 %109650 BEHCET SYNDROME 109600 BEETURIA %109543 B-CELL MALIGNANCY, LOW-GRADE Gene map locus 13q14 109540 B-CELL GROWTH FACTOR; BCGF %109500 BASILAR IMPRESSION, PRIMARY #109400 BASAL CELL NEVUS SYNDROME; BCNS Gene map locus 9q22.3 %109350 GASTROESOPHAGEAL REFLUX BARRETT METAPLASIA, INCLUDED Gene map locus 13q14 109300 BANKI SYNDROME %109200 ALOPECIA, ANDROGENETIC, 1; AGA1 BALDNESS, MALE PATTERN, INCLUDED; MPB, INCLUDED Gene map locus 3q26 109180 BABOON M7 VIRUS INTEGRATION SITE; BEVI Gene map locus Chr.6 %109160 AZOTEMIA, FAMILIAL #109150 MACHADO-JOSEPH DISEASE; MJD Gene map locus 14q24.3-q31 109130 AXIAL OSTEOMALACIA 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES #109100 AUTOIMMUNE DISEASE 109050 AUROCEPHALOSYNDACTYLY %109000 AURICULOOSTEODYSPLASIA #108985 SVEINSSON CHORIORETINAL ATROPHY; SCRA Gene map locus 11p15.2 108980 ATRIOVENTRICULAR CONDUCTION TIME 108950 ATRIAL TACHYARRHYTHMIA WITH SHORT PR INTERVAL #108900 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS Gene map locus 5q34 %108800 ATRIAL SEPTAL DEFECT 1; ASD1 ATRIAL SEPTAL DEFECT, PRIMUM TYPE, INCLUDED Gene map locus 6p21.3 #108770 ATRIAL STANDSTILL %108760 ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTION DEAFNESS %108725 ATHEROSCLEROSIS SUSCEPTIBILITY; ATHS Gene map locus 19p13.3-p13.2 #108721 ATELOSTEOGENESIS, TYPE III; AOIII Gene map locus 3p14.3 #108720 ATELOSTEOGENESIS, TYPE I; AOI Gene map locus 3p14.3 108700 ATAXIA WITH FASCICULATIONS %108650 ATAXIA, SPASTIC, WITH CONGENITAL MIOSIS %108600 ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT; SPAX1 Gene map locus 12p13 #108500 EPISODIC ATAXIA, TYPE 2; EA2 Gene map locus 19p13 108450 ASYMMETRIC SHORT STATURE SYNDROME 108420 ASPERMIOGENESIS FACTOR %108390 ASPARAGUS, SPECIFIC SMELL HYPERSENSITIVITY #108340 ARYL HYDROCARBON HYDROXYLASE INDUCIBILITY 108320 ARTICHOKE, MODIFICATION OF TASTE BY #108300 STICKLER SYNDROME, TYPE I; STL1 Gene map locus 12q13.11-q13.2 108200 ARTHROGRYPOSIS-LIKE HAND ANOMALY AND SENSORINEURAL DEAFNESS %108145 ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 #108120 ARTHROGRYPOSIS, DISTAL, TYPE 1; DA1 Gene map locus 9p13.2-p13.1 108110 ARTHROGRYPOSIS MULTIPLEX CONGENITA; AMC 108100 ARTHRITIS, SACROILIAC 108050 ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS #108010 ARTERIOVENOUS MALFORMATIONS OF THE BRAIN INTRACRANIAL HEMORRHAGE IN BRAIN ARTERIOVENOUS MALFORMATIONS, SUSCEPTIBILITY TO, INCLUDED 108000 ARTERIES, ANOMALIES OF #107970 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1 UHL ANOMALY, INCLUDED Gene map locus 14q24 %107950 ARRHENOBLASTOMA--THYROID ADENOMA 107920 AROMATIC ALPHA-KETO ACID REDUCTASE Gene map locus 12p 107900 ARMS, MALFORMATION OF 107850 ARM FOLDING PREFERENCE 107800 ARCUS CORNEAE 107760 APOLIPOPROTEIN F; APOF #107750 ARBITRARY RESTRICTION POLYMORPHISM 1 107700 APPENDICITIS, PRONENESS TO %107650 APNEA, OBSTRUCTIVE SLEEP 107640 APNEA, CENTRAL SLEEP 107601 APLASIA CUTIS CONGENITA AND COARCTATION OF AORTA; ACCCA %107600 APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC 107550 AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA 107500 AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION #107480 TOWNES-BROCKS SYNDROME; TBS TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED Gene map locus 16q12.1 107440 ANTIVIRAL STATE REPRESSOR, REGULATOR OF; AVRR 107410 PROTEASE INHIBITOR 1-LIKE; PIL Gene map locus 14q32.1 107320 ANTIPHOSPHOLIPID SYNDROME %107290 ANTIPYRINE METABOLISM #107250 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ASMD Gene map locus 10q25, 1p32 %107200 ANOSMIA, CONGENITAL Gene map locus 18p11.23-q12.2 %107100 ANORECTAL ANOMALIES 107000 ANONYCHIA-ONYCHODYSTROPHY %106995 ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES 106990 ANONYCHIA-ONYCHODYSTROPHY WITH BRACHYDACTYLY TYPE B AND ECTRODACTYLY 106900 ANONYCHIA-ECTRODACTYLY 106750 ANONYCHIA WITH FLEXURAL PIGMENTATION %106700 TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1; TAPVR1 Gene map locus 4q12 #106600 TOOTH AGENESIS, SELECTIVE, 1; STHAG1 TOOTH AGENESIS, SELECTIVE, WITH OROFACIAL CLEFT, INCLUDED Gene map locus 14q12-q13, 4p16.1 106500 ANNULAR ERYTHEMA 106400 ANKYLOSING VERTEBRAL HYPEROSTOSIS WITH TYLOSIS DIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSIS, INCLUDED; DISH, INCLUDED #106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1 ANKYLOSING SPONDYLITIS, SUSCEPTIBILITY TO, INCLUDED Gene map locus 6p21.3, 6p21.3 106280 ANKYLOGLOSSIA #106260 ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Gene map locus 3q27 106250 ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE 106240 ANISOCORIA 106230 ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT 106220 ANIRIDIA AND ABSENT PATELLA #106210 ANIRIDIA, TYPE II; AN2 Gene map locus 11p13 #106200 ANIRIDIA; AN1 106190 ANHIDROSIS, FAMILIAL GENERALIZED, WITH NORMAL SWEAT GLANDS 106160 ANGIOTENSIN II BINDING PROTEIN #106100 ANGIOEDEMA, HEREDITARY; HAE ANGIOEDEMA, HEREDITARY, TYPE II, INCLUDED Gene map locus 11q11-q13.1 %106070 ANGIOMA, HEREDITARY NEUROCUTANEOUS SPINAL ARTERIAL VENOUS MALFORMATIONS WITH CUTANEOUS HEMANGIOMAS, INCLUDED 106050 ANGIOMA SERPIGINOSUM, AUTOSOMAL DOMINANT 105835 ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA; ASPED #105830 ANGELMAN SYNDROME; AS ANGELMAN SYNDROME CHROMOSOME REGION, INCLUDED; ANCR, INCLUDED Gene map locus 15q11-q13, Xq28 105805 ANEURYSM OF INTERVENTRICULAR SEPTUM %105800 ANEURYSM, INTRACRANIAL BERRY, 1 Gene map locus 7q11.2 #105650 DIAMOND-BLACKFAN ANEMIA; DBA Gene map locus 19q13.2, 8p23.3-p22 %105600 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE III; CDAN3 ERYTHRORETICULOSIS, HEREDITARY BENIGN, INCLUDED Gene map locus 15q21 105580 ANAL CANAL CARCINOMA CLOACOGENIC CARCINOMA, INCLUDED Gene map locus 11q22-qter 105570 ANDROSTENONE, ABILITY TO SMELL 105565 ANAL SPHINCTER MYOPATHY, INTERNAL 105563 ANAL SPHINCTER DYSPLASIA; ASDP %105550 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1; ALSFTD1 Gene map locus 9q21-q22 #105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 Gene map locus 15q21 #105400 AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1 AMYOTROPHIC LATERAL SCLEROSIS, AUTOSOMAL RECESSIVE, INCLUDED Gene map locus 12q12-q13, 2p13, 22q12.2, 21q22.1 105300 AMYOTROPHIC DYSTONIC PARAPLEGIA #105250 AMYLOIDOSIS, PRIMARY CUTANEOUS Gene map locus 5p13.1 #105210 AMYLOIDOSIS VII AMYLOIDOSIS, OCULOLEPTOMENINGEAL, INCLUDED #105200 AMYLOIDOSIS, FAMILIAL VISCERAL Gene map locus Chr.12, 4q28 #105150 AMYLOIDOSIS VI Gene map locus 20p11.2 #105120 AMYLOIDOSIS V LATTICE CORNEAL DYSTROPHY, TYPE II, INCLUDED Gene map locus 9q34 104600 AMENORRHEA-GALACTORRHEA SYNDROME %104570 AMELOONYCHOHYPOHIDROTIC SYNDROME %104530 AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE MICRODONTIA, GENERALIZED, INCLUDED #104510 AMELOGENESIS IMPERFECTA, TYPE IV; AI4 Gene map locus 17q21.3-q22 #104500 AMELOGENESIS IMPERFECTA, TYPE IB; AI1B Gene map locus 4q21 104400 AMELIA AND TERMINAL TRANSVERSE HEMIMELIA 104350 AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM #104310 ALZHEIMER DISEASE 2 Gene map locus 19q13.2 #104300 ALZHEIMER DISEASE; AD ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED; AD1, INCLUDED Gene map locus 20p, 19p13.2, 17q23.1, 17q23, 17q11.2, 12p11.23-q13.12, 12p13.3-p12.3, 11q23.2-q24.2, 10q24, 10q24, 7q36, 7q36, 7q36, 4p14 #104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD Gene map locus 1q21-q23 %104200 ALPORT SYNDROME, AUTOSOMAL DOMINANT %104130 ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY 104110 ALOPECIA, FAMILIAL FOCAL 104100 ALOPECIA CONGENITA WITH KERATOSIS PALMOPLANTARIS %104000 ALOPECIA AREATA 1 ALOPECIA UNIVERSALIS, INCLUDED; AU, INCLUDED Gene map locus 18p11.3-p11.2 103920 ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS #103900 GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM; GRA Gene map locus 8q21 #103780 ALCOHOL DEPENDENCE Gene map locus 13q14-q21, 4q22, 4p13-p12 103581 ALBRIGHT HEREDITARY OSTEODYSTROPHY 2 Gene map locus 15q11-q13 #103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO PSEUDOHYPOPARATHYROIDISM, TYPE IA, INCLUDED Gene map locus 20q13.2 #103500 TIETZ SYNDROME Gene map locus 3p14.1-p12.3 #103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS Gene map locus 11q14-q21, 3p14.1-p12.3 %103420 ALACRIMA, CONGENITAL 103400 AINHUM 103300 AGLOSSIA-ADACTYLIA HANHART SYNDROME, INCLUDED #103285 ADULT SYNDROME Gene map locus 3q27 103230 ADRENOCORTICAL HYPOFUNCTION, CHRONIC PRIMARY CONGENITAL %103200 ADIPOSIS DOLOROSA #103100 ADIE PUPIL HOLMES-ADIE SYNDROME, INCLUDED #103050 ADENYLOSUCCINASE DEFICIENCY Gene map locus 22q13.1 #102900 ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES %102800 ADENOSINE TRIPHOSPHATASE DEFICIENCY, ANEMIA DUE TO 102730 ADENOSINE DEAMINASE, ELEVATED, HEMOLYTIC ANEMIA DUE TO 102710 ADENOSINE DEAMINASE COMPLEXING PROTEIN 1; ADCP1 Gene map locus Chr.6 #102700 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY SCID DUE TO ADA DEFICIENCY, DELAYED ONSET, INCLUDED Gene map locus 20q13.11 102699 ADENO-ASSOCIATED VIRUS INTEGRATION SITE 1; AAVS1 Gene map locus 19q13-qter 102660 ADAMANTINOMA OF LONG BONES 102650 ADACTYLIA, UNILATERAL 102590 ACYLASE, COBALT-ACTIVATED #102530 GLOBOZOOSPERMIA Gene map locus 6q21, 3q26.3 102520 ACRORENAL SYNDROME %102510 ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF Gene map locus 2q36 %102500 ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE 102400 ACROOSTEOLYSIS %102370 ACROMICRIC DYSPLASIA %102350 ACROMIAL DIMPLES %102300 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 1 Gene map locus 12q12-q21 #102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING PITUITARY ADENOMA PREDISPOSITION, INCLUDED; PAP, INCLUDED Gene map locus 20q13.2, 16p13.3, 11q13.3 %102150 ACROMEGALOID FACIAL APPEARANCE SYNDROME %102100 ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA 102000 ACROLEUKOPATHY, SYMMETRIC #101900 ACROKERATOSIS VERRUCIFORMIS; AKV Gene map locus 12q23-q24.1 %101850 ACROKERATOELASTOIDOSIS; AKE 101840 ACROKERATODERMA, HEREDITARY PAPULOTRANSLUCENT 101805 ACROFACIAL DYSOSTOSIS, CATANIA TYPE %101800 ACRODYSOSTOSIS #101600 PFEIFFER SYNDROME NOACK SYNDROME, INCLUDED Gene map locus 10q26, 8p11.2-p11.1 #101400 SAETHRE-CHOTZEN SYNDROME; SCS SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED Gene map locus 10q26, 7p21 #101200 APERT SYNDROME APERT-CROUZON DISEASE, INCLUDED Gene map locus 10q26 101120 ACROCEPHALOPOLYSYNDACTYLY TYPE III #101000 NEUROFIBROMATOSIS, TYPE II; NF2 Gene map locus 22q12.2 %100820 ACHOO SYNDROME #100800 ACHONDROPLASIA; ACH Gene map locus 4p16.3 100700 ACHARD SYNDROME 100680 ACETYLCHOLINESTERASE EXPRESSION; ACEE 100675 ACETAMINOPHEN METABOLISM %100600 ACANTHOSIS NIGRICANS %100300 ADAMS-OLIVER SYNDROME; AOS APLASIA CUTIS CONGENITA, CONGENITAL HEART DEFECT, AND FRONTONASAL CYSTS, INCLUDED 100200 ABDUCENS PALSY 100100 ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM #100070 AORTIC ANEURYSM, ABDOMINAL ARTERIOMEGALY, INCLUDED 100050 AARSKOG SYNDROME