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April 2, 2016 21:10
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clinvar submitter trait-free-text clustered by triglyph scoring
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| 1 infantile-onset spinocerebellar ataxia | |
| 1 spinocerebellar ataxia 1 | |
| 1 spinocerebellar ataxia 10 | |
| 1 spinocerebellar ataxia 11 | |
| 1 spinocerebellar ataxia 12 | |
| 1 spinocerebellar ataxia 13 | |
| 1 spinocerebellar ataxia 14 | |
| 1 spinocerebellar ataxia 15 | |
| 1 spinocerebellar ataxia 17 | |
| 1 spinocerebellar ataxia 19 | |
| 1 spinocerebellar ataxia 2 | |
| 1 spinocerebellar ataxia 21 | |
| 1 spinocerebellar ataxia 23 | |
| 1 spinocerebellar ataxia 26 (1 family) | |
| 1 spinocerebellar ataxia 27 | |
| 1 spinocerebellar ataxia 28 | |
| 1 spinocerebellar ataxia 29 | |
| 1 spinocerebellar ataxia 31 | |
| 1 spinocerebellar ataxia 34 (1 family) | |
| 1 spinocerebellar ataxia 35 | |
| 1 spinocerebellar ataxia 36 | |
| 1 spinocerebellar ataxia 38 | |
| 1 spinocerebellar ataxia 40 | |
| 1 spinocerebellar ataxia 40 (1 family) | |
| 1 spinocerebellar ataxia 41 (1 patient) | |
| 1 spinocerebellar ataxia 5 | |
| 1 spinocerebellar ataxia 6 | |
| 1 spinocerebellar ataxia 7 | |
| 1 spinocerebellar ataxia 8 | |
| 1 spinocerebellar ataxia autosomal recessive 1 | |
| 1 spinocerebellar ataxia, autosomal recessive 1 | |
| 1 spinocerebellar ataxia, autosomal recessive 10 | |
| 1 spinocerebellar ataxia, autosomal recessive 11 | |
| 1 spinocerebellar ataxia, autosomal recessive 12 | |
| 1 spinocerebellar ataxia, autosomal recessive 13 | |
| 1 spinocerebellar ataxia, autosomal recessive 14 | |
| 1 spinocerebellar ataxia, autosomal recessive 15 (1 family) | |
| 1 spinocerebellar ataxia, autosomal recessive 16 | |
| 1 spinocerebellar ataxia, autosomal recessive 17 (1 family) | |
| 1 spinocerebellar ataxia, autosomal recessive 18 | |
| 1 spinocerebellar ataxia, autosomal recessive 20 | |
| 1 spinocerebellar ataxia, autosomal recessive 7 | |
| 1 spinocerebellar ataxia, autosomal recessive 8 | |
| 1 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy | |
| 1 spinocerebellar ataxia, infantile-onset | |
| 1 spinocerebellar ataxia type10 | |
| 1 spinocerebellar ataxia type11 | |
| 1 spinocerebellar ataxia type14 | |
| 1 spinocerebellar ataxia type 2 | |
| 1 spinocerebellar ataxia type28 | |
| 1 spinocerebellar ataxia with epilepsy | |
| 1 spinocerebellar ataxia, x-linked | |
| 1 spinocerebellar ataxia, x-linked 1 (1 family) | |
| 2 hyperoxaluria, primary, type 2 | |
| 2 hyperoxaluria, primary, type i | |
| 2 hyperoxaluria, primary, type ii | |
| 2 hyperoxaluria, primary, type iii | |
| 2 primary hyperoxaluria, type i | |
| 2 primary hyperoxaluria, type ii | |
| 2 primary hyperoxaluria, type iii | |
| 3 noonan syndrome-like disorder with juvenile myelomonocytic leukemia | |
| 3 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | |
| 3 noonan syndrome-like disorder without juvenile myelomonocytic leukemia | |
| 4 myofibrillar myopathy | |
| 4 myofibrillar myopathy 1 | |
| 4 myopathy, myofibrillar, 1 | |
| 4 myopathy, myofibrillar, 2 | |
| 4 myopathy, myofibrillar, 3 | |
| 4 myopathy, myofibrillar, 4 | |
| 4 myopathy, myofibrillar, 5 | |
| 4 myopathy, myofibrillar, 6 | |
| 5 adenocarcinoma | |
| 5 adenocarcinoma, colonic, somatic | |
| 5 adenocarcinoma of lung, somatic | |
| 5 bladder cancer | |
| 5 bladder cancer, somatic | |
| 5 bladder cancer, transitional cell, somatic | |
| 5 brca1 and brca2 hereditary breast and ovarian cancer | |
| 5 breast adenocarcinoma, somatic | |
| 5 breast and colorectal cancer | |
| 5 breast and colorectal cancer, susceptibility to | |
| 5 breast and/or ovarian cancer | |
| 5 breast cancer | |
| 5 breast cancer, familial | |
| 5 breast cancer, invasive ductal | |
| 5 breast cancer, invasive, susceptibility to | |
| 5 breast cancer, lobular | |
| 5 breast cancer, lobular, somatic | |
| 5 breast cancer, male | |
| 5 breast cancer, somatic | |
| 5 breast cancer, susceptibility to | |
| 5 breast-ovarian cancer, familial | |
| 5 breast-ovarian cancer, familial 1 | |
| 5 breast-ovarian cancer, familial, 1 | |
| 5 breast-ovarian cancer, familial 2 | |
| 5 breast-ovarian cancer, familial, 2 | |
| 5 breast-ovarian cancer, familial 4 | |
| 5 breast-ovarian cancer, familial, susceptibility to, 1 | |
| 5 breast-ovarian cancer, familial, susceptibility to, 2 | |
| 5 breast-ovarian cancer, familial, susceptibility to, 3 | |
| 5 breast-ovarian cancer, familial, susceptibility to, 4 | |
| 5 cervical cancer, somatic | |
| 5 colon cancer | |
| 5 colon cancer, advanced, somatic | |
| 5 colon cancer, somatic | |
| 5 colon cancer, susceptibility to | |
| 5 colorectal cancer | |
| 5 colorectal cancer, early onset | |
| 5 colorectal cancer, somatic | |
| 5 colorectal cancer, sporadic, susceptibility to | |
| 5 colorectal cancer, susceptibility to | |
| 5 colorectal cancer, susceptibility to, 1 | |
| 5 colorectal cancer, susceptibility to, 10 | |
| 5 colorectal cancer, susceptibility to, 12 | |
| 5 colorectal cancer, susceptibility to, 3 | |
| 5 colorectal / endometrial cancer | |
| 5 endometrial cancer | |
| 5 endometrial cancer, somatic | |
| 5 endometrial carcinoma | |
| 5 endometrial carcinoma, somatic | |
| 5 familial breast cancer | |
| 5 familial cancer of breast | |
| 5 familial colorectal cancer | |
| 5 gastric cancer | |
| 5 gastric cancer, somatic | |
| 5 hereditary breast and ovarian cancer | |
| 5 hereditary breast and ovarian cancer, brovca1 | |
| 5 hereditary breast and ovarian cancer, brovca2 | |
| 5 lung cancer | |
| 5 lung cancer, somatic | |
| 5 lung cancer, squamous cell, somatic | |
| 5 lung cancer susceptibility 2 | |
| 5 lung cancer, susceptibility to | |
| 5 melanoma-pancreatic cancer syndrome | |
| 5 non-small cell lung cancer | |
| 5 nonsmall cell lung cancer | |
| 5 nonsmall cell lung cancer, somatic | |
| 5 oligodontia-colorectal cancer syndrome | |
| 5 ovarian cancer | |
| 5 ovarian cancer, epithelial, somatic | |
| 5 ovarian cancer, somatic | |
| 5 ovarian cancer, susceptibility to | |
| 5 pancreatic adenocarcinoma | |
| 5 pancreatic cancer 3 | |
| 5 pancreatic cancer, somatic | |
| 5 pancreatic cancer, susceptibility to | |
| 5 pancreatic cancer, susceptibility to, 1 | |
| 5 pancreatic cancer, susceptibility to, 2 | |
| 5 pancreatic cancer, susceptibility to, 3 | |
| 5 pancreatic cancer, susceptibility to, 4 | |
| 5 pancreatic carcinoma, somatic | |
| 5 rectal cancer, somatic | |
| 5 small cell cancer of the lung, somatic | |
| 6 familial hemiplegic migraine type 1 | |
| 6 familial hemiplegic migraine type 3 | |
| 6 migraine, familial hemiplegic, 1 | |
| 6 migraine, familial hemiplegic, 2 | |
| 6 migraine, familial hemiplegic, 3 | |
| 6 migraine, sporadic hemiplegic | |
| 7 frontometaphyseal dysplasia | |
| 7 metaphyseal dysplasia, spahr type | |
| 7 otospondylomegaepiphyseal dysplasia | |
| 7 otospondylomegaepiphyseal dysplasia, heterozygous | |
| 7 spondyloepimetaphyseal dysplasia, aggrecan type | |
| 7 spondyloepimetaphyseal dysplasia, faden-alkuraya type | |
| 7 spondyloepimetaphyseal dysplasia, matn3-related | |
| 7 spondyloepimetaphyseal dysplasia, missouri type | |
| 7 spondyloepimetaphyseal dysplasia, pakistani type | |
| 7 spondyloepimetaphyseal dysplasia, stanescu type | |
| 7 spondyloepimetaphyseal dysplasia strudwick type | |
| 7 spondyloepimetaphyseal dysplasia, strudwick type | |
| 7 spondyloepimetaphyseal dysplasia with joint laxity, type 1 | |
| 7 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | |
| 7 spondyloepimetaphyseal dysplasia with joint laxity, type 2 | |
| 7 spondyloepiphyseal dysplasia congenita | |
| 7 spondyloepiphyseal dysplasia, kimberley type | |
| 7 spondyloepiphyseal dysplasia, maroteaux type | |
| 7 spondyloepiphyseal dysplasia tarda | |
| 7 spondyloepiphyseal dysplasia tarda with progressive arthropathy | |
| 7 spondylo-megaepiphyseal-metaphyseal dysplasia | |
| 7 spondylometaphyseal dysplasia, kozlowski type | |
| 7 spondylometaphyseal dysplasia, megarbane-dagher-melki type | |
| 7 spondylometaphyseal dysplasia, sedaghatian type | |
| 8 metabolic disease | |
| 8 metabolic syndrome, susceptibility to | |
| 9 aphasia, primary progressive | |
| 9 aphasia, primary progressive, susceptibility to | |
| 10 aplastic anemia | |
| 10 aplastic anemia, susceptibility to | |
| 11 alpha-plus-thalassemia | |
| 11 alpha thalassemia | |
| 11 alpha-thalassemia | |
| 11 alpha-thalassemia, dutch type | |
| 11 alpha-thalassemia, hmong type | |
| 11 alpha-thalassemia trait | |
| 11 alpha-thalassemia, zf type | |
| 11 beta-e-thalassemia | |
| 11 beta-knossos-thalassemia | |
| 11 beta-malay-thalassemia | |
| 11 beta-plus-thalassemia | |
| 11 beta-plus-thalassemia, dominant | |
| 11 beta thalassemia | |
| 11 beta-thalassemia | |
| 11 beta-thalassemia, dominant | |
| 11 beta-thalassemia, dominant inclusion body type | |
| 11 beta thalassemia intermedia | |
| 11 beta-thalassemia intermedia | |
| 11 beta-thalassemia intermedia, dominant | |
| 11 beta-thalassemia, lermontov type | |
| 11 beta thalassemia major | |
| 11 beta-zero-thalassemia | |
| 11 delta-0-thalassemia | |
| 11 delta/beta thalassemia | |
| 11 delta-plus-thalassemia | |
| 11 delta-thalassemia | |
| 11 delta-zero-thalassemia, knossos type | |
| 11 dominant beta thalassemia | |
| 11 thalassemia, alpha-plus | |
| 11 thalassemia, gamma-delta-beta | |
| 11 thalassemia intermedia | |
| 12 schizophrenia | |
| 12 schizophrenia 15 | |
| 12 schizophrenia 18 (1 family) | |
| 12 schizophrenia 9 | |
| 12 schizophrenia, susceptibility to | |
| 12 schizophrenia, susceptibility to, 17 | |
| 12 schizophrenia, susceptibility to, 4 | |
| 13 aarskog-scott syndrome with attention deficit-hyperactivity disorder | |
| 13 attention deficit hyperactivity disorder | |
| 13 attention deficit-hyperactivity disorder, susceptibility to | |
| 13 attention deficit-hyperactivity disorder, susceptibility to, 7 | |
| 14 acquired immunodeficiency syndrome, delayed progression to | |
| 14 acquired immunodeficiency syndrome, rapid progression to | |
| 14 acquired immunodeficiency syndrome, slow progression to | |
| 14 combined immunodeficiency | |
| 14 combined immunodeficiency, x-linked | |
| 14 human immunodeficiency virus dementia, susceptibility to | |
| 14 human immunodeficiency virus type 1, delayed disease progression with infection by | |
| 14 human immunodeficiency virus type 1, rapid disease progression with infection by | |
| 14 human immunodeficiency virus type 1, rapid progression to aids | |
| 14 human immunodeficiency virus type 1, resistance to | |
| 14 human immunodeficiency virus type 1, susceptibility to | |
| 14 il21r immunodeficiency | |
| 14 immunodeficency 31c | |
| 14 immunodeficiency 10 | |
| 14 immunodeficiency 11 | |
| 14 immunodeficiency 12 | |
| 14 immunodeficiency 13 (1 family) | |
| 14 immunodeficiency 14 | |
| 14 immunodeficiency 15 | |
| 14 immunodeficiency 16 (1 family) | |
| 14 immunodeficiency 17 | |
| 14 immunodeficiency 18 | |
| 14 immunodeficiency 18, severe combined immunodeficiency variant | |
| 14 immunodeficiency 19 | |
| 14 immunodeficiency 20 | |
| 14 immunodeficiency 22 (1 patient) | |
| 14 immunodeficiency 23 | |
| 14 immunodeficiency 24 | |
| 14 immunodeficiency 27a | |
| 14 immunodeficiency 27b | |
| 14 immunodeficiency 27b; imd27b | |
| 14 immunodeficiency 28 | |
| 14 immunodeficiency 29 | |
| 14 immunodeficiency 30 | |
| 14 immunodeficiency 31a | |
| 14 immunodeficiency 31b | |
| 14 immunodeficiency 31c | |
| 14 immunodeficiency 32a | |
| 14 immunodeficiency 32b | |
| 14 immunodeficiency 33 | |
| 14 immunodeficiency 34 | |
| 14 immunodeficiency 35 | |
| 14 immunodeficiency 36 | |
| 14 immunodeficiency 37 (1 patient) | |
| 14 immunodeficiency 39 (1 family) | |
| 14 immunodeficiency 40 | |
| 14 immunodeficiency 42 | |
| 14 immunodeficiency 43 | |
| 14 immunodeficiency 44 | |
| 14 immunodeficiency 45 (1 family) | |
| 14 immunodeficiency 8 | |
| 14 immunodeficiency 9 | |
| 14 immunodeficiency due to ficolin 3 deficiency | |
| 14 immunodeficiency, isolated | |
| 14 immunodeficiency with hyper-igm, type 1 | |
| 14 immunodeficiency with hyper-igm, type 2 | |
| 14 immunodeficiency with hyper-igm, type 3 | |
| 14 immunodeficiency with hyper-igm, type 5 | |
| 14 neutrophil immunodeficiency syndrome | |
| 14 severe combined immunodeficiency | |
| 14 severe combined immunodeficiency, athabascan-type | |
| 14 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency | |
| 14 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency, delayed onset | |
| 14 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency, late onset | |
| 14 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency, late-onset | |
| 14 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative | |
| 14 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive | |
| 14 severe combined immunodeficiency, b cell-negative | |
| 14 severe combined immunodeficiency disease | |
| 14 severe combined immunodeficiency due to ada deficiency | |
| 14 severe combined immunodeficiency, partial | |
| 14 severe combined immunodeficiency, x-linked | |
| 14 x-linked severe combined immunodeficiency | |
| 14 zap70-related severe combined immunodeficiency | |
| 15 waardenburg syndrome, type 2e, with neurologic involvement | |
| 15 waardenburg syndrome, type 2e, without neurologic involvement | |
| 16 osteoporosis-pseudoglioma syndrome | |
| 16 osteoporosis with pseudoglioma | |
| 17 17-@beta hydroxysteroid dehydrogenase iii deficiency | |
| 17 17-@beta-hydroxysteroid dehydrogenase x deficiency | |
| 17 17-beta-hydroxysteroid dehydrogenase x deficiency | |
| 17 3-@beta-hydroxysteroid dehydrogenase, type ii, deficiency of | |
| 18 hypogonadotrophic hypogonadism | |
| 18 hypogonadotrophic hypogonadism 5 without anosmia | |
| 18 hypogonadotropic hypogonadism | |
| 18 hypogonadotropic hypogonadism 10 with or without anosmia | |
| 18 hypogonadotropic hypogonadism 10 without anosmia | |
| 18 hypogonadotropic hypogonadism 11 with or without anosmia | |
| 18 hypogonadotropic hypogonadism 11 without anosmia | |
| 18 hypogonadotropic hypogonadism 12 without anosmia (1 family) | |
| 18 hypogonadotropic hypogonadism 13 without anosmia (1 family) | |
| 18 hypogonadotropic hypogonadism 14 with anosmia | |
| 18 hypogonadotropic hypogonadism 14 without anosmia | |
| 18 hypogonadotropic hypogonadism 15 with anosmia, susceptibility to | |
| 18 hypogonadotropic hypogonadism 15 with or without anosmia, susceptibility to | |
| 18 hypogonadotropic hypogonadism 16 with anosmia, susceptibility to | |
| 18 hypogonadotropic hypogonadism 17 with anosmia | |
| 18 hypogonadotropic hypogonadism 17 with or without anosmia, susceptibility to | |
| 18 hypogonadotropic hypogonadism 17 without anosmia | |
| 18 hypogonadotropic hypogonadism 18 with anosmia | |
| 18 hypogonadotropic hypogonadism 18 with anosmia, susceptibility to | |
| 18 hypogonadotropic hypogonadism 19 with anosmia | |
| 18 hypogonadotropic hypogonadism 19 with anosmia, susceptibility to | |
| 18 hypogonadotropic hypogonadism 19 without anosmia | |
| 18 hypogonadotropic hypogonadism 1 with anosmia | |
| 18 hypogonadotropic hypogonadism 20 with anosmia | |
| 18 hypogonadotropic hypogonadism 20 with anosmia, susceptibility to | |
| 18 hypogonadotropic hypogonadism 20 without anosmia | |
| 18 hypogonadotropic hypogonadism 21 with anosmia | |
| 18 hypogonadotropic hypogonadism 21 with anosmia, susceptibility to | |
| 18 hypogonadotropic hypogonadism 22 with anosmia | |
| 18 hypogonadotropic hypogonadism 23 without anosmia | |
| 18 hypogonadotropic hypogonadism 24 without anosmia | |
| 18 hypogonadotropic hypogonadism 2 with anosmia | |
| 18 hypogonadotropic hypogonadism 2 with anosmia, susceptibility to | |
| 18 hypogonadotropic hypogonadism 2 with or without anosmia, susceptibility to | |
| 18 hypogonadotropic hypogonadism 2 without anosmia | |
| 18 hypogonadotropic hypogonadism 2 without anosmia, susceptibility to | |
| 18 hypogonadotropic hypogonadism 3 with anosmia | |
| 18 hypogonadotropic hypogonadism 3 with or without anosmia | |
| 18 hypogonadotropic hypogonadism 3 without anosmia | |
| 18 hypogonadotropic hypogonadism 4 with anosmia | |
| 18 hypogonadotropic hypogonadism 4 with or without anosmia | |
| 18 hypogonadotropic hypogonadism 5 with anosmia | |
| 18 hypogonadotropic hypogonadism 5 without anosmia | |
| 18 hypogonadotropic hypogonadism 6 with anosmia | |
| 18 hypogonadotropic hypogonadism 6 with or without anosmia | |
| 18 hypogonadotropic hypogonadism 6 without anosmia | |
| 18 hypogonadotropic hypogonadism 7 with anosmia | |
| 18 hypogonadotropic hypogonadism 7 without anosmia | |
| 18 hypogonadotropic hypogonadism 8 with anosmia, susceptibility to | |
| 18 hypogonadotropic hypogonadism 8 without anosmia | |
| 18 hypogonadotropic hypogonadism 9 with anosmia, susceptibility to | |
| 18 hypogonadotropic hypogonadism 9 without anosmia, susceptibility to | |
| 18 isolated hypogonadotropic hypogonadism | |
| 18 nonsyndromic hypergonadotropic hypogonadism | |
| 19 early onset obesity | |
| 19 obesity, early-onset, susceptibility to | |
| 19 obesity, mild, early-onset | |
| 20 diabetes mellitus | |
| 20 diabetes mellitus, gestational | |
| 20 diabetes mellitus, insulin-dependent | |
| 20 diabetes mellitus, insulin-dependent, 10 | |
| 20 diabetes mellitus, insulin-dependent, 2 | |
| 20 diabetes mellitus, insulin-dependent, 20 | |
| 20 diabetes mellitus, insulin-dependent, 5 | |
| 20 diabetes mellitus, insulin-dependent, susceptibility to | |
| 20 diabetes mellitus, insulin-resistant | |
| 20 diabetes mellitus, insulin-resistant, with acanthosis nigricans | |
| 20 diabetes mellitus, ketosis-prone, susceptibility to | |
| 20 diabetes mellitus, neonatal, with congenital hypothyroidism | |
| 20 diabetes mellitus, noninsulin-dependent | |
| 20 diabetes mellitus, noninsulin-dependent, 5 | |
| 20 diabetes mellitus, noninsulin-dependent, association with | |
| 20 diabetes mellitus, noninsulin-dependent, late-onset | |
| 20 diabetes mellitus, noninsulin-dependent, maternally transmitted | |
| 20 diabetes mellitus, noninsulin-dependent, modifier of | |
| 20 diabetes mellitus, noninsulin-dependent, susceptibility to | |
| 20 diabetes mellitus, permanent neonatal | |
| 20 diabetes mellitus, permanent neonatal, with neurologic features | |
| 20 diabetes mellitus, transient neonatal, 1 | |
| 20 diabetes mellitus, transient neonatal 2 | |
| 20 diabetes mellitus, transient neonatal, 2 | |
| 20 diabetes mellitus, transient neonatal, 3 | |
| 20 diabetes mellitus, type 1, susceptibility to | |
| 20 diabetes mellitus type 2 | |
| 20 diabetes mellitus, type 2 | |
| 20 diabetes mellitus, type 2, susceptibility to | |
| 20 diabetes mellitus, type ii | |
| 20 diabetes mellitus, type ii, digenic | |
| 20 diabetes mellitus, type ii, susceptibility to | |
| 20 diabetes, type ii, susceptibility to | |
| 20 gestational diabetes mellitus uncontrolled | |
| 20 neonatal diabetes mellitus | |
| 20 neonatal insulin-dependent diabetes mellitus | |
| 20 noninsulin-dependent diabetes mellitus | |
| 20 permanent neonatal diabetes mellitus | |
| 21 anhaptoglobinemia | |
| 21 anhaptoglobinemia, susceptibility to | |
| 21 hypohaptoglobinemia | |
| 22 becker muscular dystrophy | |
| 22 becker muscular dystrophy, atypical | |
| 22 congenital muscular dystrophy | |
| 22 congenital muscular dystrophy, lmna-related | |
| 22 duchenne muscular dystrophy | |
| 22 eichsfeld type congenital muscular dystrophy | |
| 22 emery-dreifuss muscular dystrophy | |
| 22 emery-dreifuss muscular dystrophy 1, x-linked | |
| 22 emery-dreifuss muscular dystrophy 3, autosomal recessive | |
| 22 emery-dreifuss muscular dystrophy 4 | |
| 22 emery-dreifuss muscular dystrophy 4, autosomal dominant | |
| 22 emery-dreifuss muscular dystrophy 4 with variable features | |
| 22 emery-dreifuss muscular dystrophy 5 | |
| 22 emery-dreifuss muscular dystrophy 6 | |
| 22 emery-dreifuss muscular dystrophy 7, autosomal dominant | |
| 22 emery-dreifuss muscular dystrophy, autosomal dominant | |
| 22 emery-dreifuss muscular dystrophy, x-linked | |
| 22 fukuyama congenital muscular dystrophy | |
| 22 intermediate muscular dystrophy | |
| 22 lama2-related muscular dystrophy | |
| 22 limb-girdle muscular dystrophy-dystroglycanopathy, type c1 | |
| 22 limb-girdle muscular dystrophy-dystroglycanopathy, type c14 | |
| 22 limb-girdle muscular dystrophy-dystroglycanopathy, type c5 | |
| 22 limb-girdle muscular dystrophy, type 1b | |
| 22 limb-girdle muscular dystrophy, type 1c | |
| 22 limb-girdle muscular dystrophy, type 1g | |
| 22 limb-girdle muscular dystrophy, type 2a | |
| 22 limb-girdle muscular dystrophy, type 2b | |
| 22 limb girdle muscular dystrophy type 2c | |
| 22 limb-girdle muscular dystrophy, type 2d | |
| 22 limb-girdle muscular dystrophy, type 2e | |
| 22 limb-girdle muscular dystrophy, type 2g | |
| 22 limb-girdle muscular dystrophy, type 2j | |
| 22 limb-girdle muscular dystrophy, type 2l | |
| 22 miyoshi muscular dystrophy 1 | |
| 22 miyoshi muscular dystrophy 3 | |
| 22 muscular dystrophy | |
| 22 muscular dystrophy and arthrogryposis | |
| 22 muscular dystrophy, becker | |
| 22 muscular dystrophy, congenital | |
| 22 muscular dystrophy, congenital, due to itga7 deficiency | |
| 22 muscular dystrophy, congenital, due to partial lama2 deficiency | |
| 22 muscular dystrophy, congenital, lmna-related | |
| 22 muscular dystrophy, congenital, megaconial type | |
| 22 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1 | |
| 22 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 | |
| 22 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 | |
| 22 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 2 | |
| 22 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 3 | |
| 22 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4 | |
| 22 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5 | |
| 22 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 | |
| 22 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 9 | |
| 22 muscular dystrophy, emery dreifuss | |
| 22 muscular dystrophy, emery-dreifuss | |
| 22 muscular dystrophy, limb girdle | |
| 22 muscular dystrophy, limb girdle 2f | |
| 22 muscular dystrophy, limb-girdle, type 1a | |
| 22 muscular dystrophy, limb-girdle, type 1b | |
| 22 muscular dystrophy, limb-girdle, type 1c | |
| 22 muscular dystrophy, limb-girdle, type 1c, autosomal recessive | |
| 22 muscular dystrophy, limb-girdle, type 1e | |
| 22 muscular dystrophy, limb-girdle, type 1f | |
| 22 muscular dystrophy, limb-girdle, type 2a | |
| 22 muscular dystrophy, limb-girdle, type 2a, amish | |
| 22 muscular dystrophy, limb-girdle, type 2b | |
| 22 muscular dystrophy, limb-girdle, type 2c | |
| 22 muscular dystrophy, limb-girdle, type 2d | |
| 22 muscular dystrophy, limb-girdle, type 2e | |
| 22 muscular dystrophy, limb-girdle, type 2f | |
| 22 muscular dystrophy, limb-girdle, type 2f, digenic | |
| 22 muscular dystrophy, limb-girdle, type 2g | |
| 22 muscular dystrophy, limb-girdle, type 2h | |
| 22 muscular dystrophy, limb-girdle, type 2j | |
| 22 muscular dystrophy, limb-girdle, type 2l | |
| 22 muscular dystrophy, limb-girdle, type 2q | |
| 22 muscular dystrophy, limb-girdle, type 2r (1 family) | |
| 22 muscular dystrophy, limb-girdle, type 2s | |
| 22 muscular dystrophy, rigid spine, 1 | |
| 22 oculopharyngeal muscular dystrophy | |
| 22 rigid spine muscular dystrophy 1 | |
| 22 tibial muscular dystrophy, tardive | |
| 22 ullrich congenital muscular dystrophy | |
| 22 ullrich congenital muscular dystrophy 1, autosomal dominant | |
| 22 ullrich congenital muscular dystrophy 1, autosomal recessive | |
| 22 ullrich congenital muscular dystrophy 1, digenic, col6a1/col6a2 | |
| 22 ullrich congenital muscular dystrophy 2 (1 family) | |
| 22 walker-warburg congenital muscular dystrophy | |
| 23 hemochromatosis | |
| 23 hemochromatosis, hereditary | |
| 23 hemochromatosis, juvenile, digenic | |
| 23 hemochromatosis type 1 | |
| 23 hemochromatosis, type 1 | |
| 23 hemochromatosis, type 1, modifier of | |
| 23 hemochromatosis type 2a | |
| 23 hemochromatosis, type 2a | |
| 23 hemochromatosis, type 2a, modifier of | |
| 23 hemochromatosis, type 2b | |
| 23 hemochromatosis, type 3 | |
| 23 hemochromatosis type 4 | |
| 23 hemochromatosis, type 4 | |
| 23 hemochromatosis, type 5 (1 family) | |
| 23 hereditary hemochromatosis | |
| 23 juvenile hemochromatosis | |
| 23 tfr2-related hereditary hemochromatosis | |
| 24 brody myopathy | |
| 24 cap myopathy 1 | |
| 24 cap myopathy 2 | |
| 24 miyoshi myopathy | |
| 24 myopathy | |
| 24 myopathy, actin, congenital, with cores | |
| 24 myopathy, congenital | |
| 24 myopathy, congenital with cores | |
| 24 nonaka myopathy | |
| 24 salih myopathy | |
| 25 ciliary dyskinesia, primary, 1 | |
| 25 ciliary dyskinesia, primary, 10 | |
| 25 ciliary dyskinesia, primary, 11, without situs inversus | |
| 25 ciliary dyskinesia, primary, 12, without situs inversus | |
| 25 ciliary dyskinesia, primary, 13 | |
| 25 ciliary dyskinesia, primary, 14 | |
| 25 ciliary dyskinesia, primary, 15 | |
| 25 ciliary dyskinesia, primary, 16 | |
| 25 ciliary dyskinesia, primary, 17 | |
| 25 ciliary dyskinesia, primary, 18, with or without situs inversus | |
| 25 ciliary dyskinesia, primary, 19 | |
| 25 ciliary dyskinesia, primary, 2 | |
| 25 ciliary dyskinesia, primary, 20 | |
| 25 ciliary dyskinesia, primary, 21, without situs inversus | |
| 25 ciliary dyskinesia, primary, 22 | |
| 25 ciliary dyskinesia, primary, 23 | |
| 25 ciliary dyskinesia, primary, 24 | |
| 25 ciliary dyskinesia, primary, 24, without situs inversus | |
| 25 ciliary dyskinesia, primary, 25 | |
| 25 ciliary dyskinesia, primary, 26, without situs inversus | |
| 25 ciliary dyskinesia, primary, 26, with situs inversus | |
| 25 ciliary dyskinesia, primary, 27, without situs inversus | |
| 25 ciliary dyskinesia, primary, 28, with or without situs inversus | |
| 25 ciliary dyskinesia, primary, 28, without situs inversus | |
| 25 ciliary dyskinesia, primary, 28, with situs inversus | |
| 25 ciliary dyskinesia, primary, 29 | |
| 25 ciliary dyskinesia, primary, 3 | |
| 25 ciliary dyskinesia, primary, 30 | |
| 25 ciliary dyskinesia, primary, 31 | |
| 25 ciliary dyskinesia, primary, 32 | |
| 25 ciliary dyskinesia, primary, 3, with or without situs inversus | |
| 25 ciliary dyskinesia, primary, 5, without situs inversus | |
| 25 ciliary dyskinesia, primary, 6 | |
| 25 ciliary dyskinesia, primary, 7 | |
| 25 ciliary dyskinesia, primary, 9 | |
| 25 primary ciliary dyskinesia | |
| 26 myotonic dystrophy 1 | |
| 26 myotonic dystrophy 2 | |
| 26 myotonic dystrophy-like myopathy | |
| 26 myotonic dystrophy type 1 | |
| 26 steinert myotonic dystrophy syndrome | |
| 27 hereditary neuropathy with liability to pressure palsies | |
| 27 neuropathy, hereditary, with liability to pressure palsies | |
| 28 autosomal recessive cutis laxa type 1b | |
| 28 cutis laxa, autosomal recessive, type 1b | |
| 28 cutis laxa, autosomal recessive, type ia | |
| 28 cutis laxa, autosomal recessive, type ib | |
| 28 cutis laxa, autosomal recessive, type ic | |
| 28 cutis laxa, autosomal recessive, type iia | |
| 28 cutis laxa, autosomal recessive, type iib | |
| 28 cutis laxa, autosomal recessive, type iiia | |
| 28 cutis laxa, autosomal recessive, type iiib | |
| 29 short-rib thoracic dysplasia 10 with or without polydactyly | |
| 29 short-rib thoracic dysplasia 10 without polydactyly | |
| 29 short-rib thoracic dysplasia 10 with polydactyly | |
| 29 short-rib thoracic dysplasia 11 with or without polydactyly | |
| 29 short-rib thoracic dysplasia 11 without polydactyly | |
| 29 short-rib thoracic dysplasia 13 with or without polydactyly | |
| 29 short-rib thoracic dysplasia 14 with polydactyly | |
| 29 short-rib thoracic dysplasia 2 without polydactyly | |
| 29 short-rib thoracic dysplasia 2 with polydactyly | |
| 29 short-rib thoracic dysplasia 3/6 with polydactyly, digenic | |
| 29 short-rib thoracic dysplasia 3 with or without polydactyly | |
| 29 short-rib thoracic dysplasia 3 without polydactyly | |
| 29 short-rib thoracic dysplasia 3 with polydactyly | |
| 29 short-rib thoracic dysplasia 4 | |
| 29 short-rib thoracic dysplasia 5 without polydactyly (1 patient) | |
| 29 short-rib thoracic dysplasia 6 without polydactyly | |
| 29 short-rib thoracic dysplasia 6 with polydactyly | |
| 29 short-rib thoracic dysplasia 7 with polydactyly | |
| 29 short-rib thoracic dysplasia 8 with or without polydactyly | |
| 29 short-rib thoracic dysplasia 8 with polydactyly | |
| 29 short-rib thoracic dysplasia 9 without polydactyly | |
| 29 short-rib thoracic dysplasia without polydactyly | |
| 30 axial myopathy, late-onset | |
| 30 cardiomyopathy, apical hypertrophic, and neuropathy | |
| 30 cardiomyopathy, familial hypertrophic | |
| 30 cardiomyopathy, familial hypertrophic, 1 | |
| 30 cardiomyopathy, familial hypertrophic, 10 | |
| 30 cardiomyopathy, familial hypertrophic, 11 | |
| 30 cardiomyopathy, familial hypertrophic, 12 | |
| 30 cardiomyopathy, familial hypertrophic, 13 | |
| 30 cardiomyopathy, familial hypertrophic, 14 | |
| 30 cardiomyopathy, familial hypertrophic, 15 | |
| 30 cardiomyopathy, familial hypertrophic, 16 | |
| 30 cardiomyopathy, familial hypertrophic 17 | |
| 30 cardiomyopathy, familial hypertrophic 18 | |
| 30 cardiomyopathy, familial hypertrophic, 18 | |
| 30 cardiomyopathy, familial hypertrophic, 19 (1 patient) | |
| 30 cardiomyopathy, familial hypertrophic, 2 | |
| 30 cardiomyopathy, familial hypertrophic, 20 | |
| 30 cardiomyopathy, familial hypertrophic, 22 | |
| 30 cardiomyopathy, familial hypertrophic, 23 | |
| 30 cardiomyopathy, familial hypertrophic, 24 | |
| 30 cardiomyopathy, familial hypertrophic, 25 | |
| 30 cardiomyopathy, familial hypertrophic, 3 | |
| 30 cardiomyopathy, familial hypertrophic, 4 | |
| 30 cardiomyopathy, familial hypertrophic, 4, susceptibility to | |
| 30 cardiomyopathy, familial hypertrophic 6 | |
| 30 cardiomyopathy, familial hypertrophic, 6 | |
| 30 cardiomyopathy, familial hypertrophic, 7 | |
| 30 cardiomyopathy, familial hypertrophic, 8 | |
| 30 cardiomyopathy, familial hypertrophic, 9 | |
| 30 cardiomyopathy, fatal | |
| 30 cardiomyopathy, fatal infantile | |
| 30 cardiomyopathy, hypertrophic | |
| 30 cardiomyopathy, hypertrophic, midventricular, digenic | |
| 30 cardiomyopathy, hypertrophic, mitochondrial | |
| 30 cardiomyopathy, hypertropic | |
| 30 cardiomyopathy, idiopathic dilated, mitochondrial | |
| 30 cardiomyopathy, infantile histiocytoid | |
| 30 cardiomyopathy, infantile hypertrophic | |
| 30 cardiomyopathy, mitochondrial | |
| 30 cardiomyopathy with or without skeletal myopathy | |
| 30 encephalocardiomyopathy, mitochondrial | |
| 30 encephalomyopathy, mitochondrial | |
| 30 encephalopathy, mitochondrial | |
| 30 familial hypertrophic cardiomyopathy 1 | |
| 30 familial hypertrophic cardiomyopathy 10 | |
| 30 familial hypertrophic cardiomyopathy 12 | |
| 30 familial hypertrophic cardiomyopathy 14 | |
| 30 familial hypertrophic cardiomyopathy 18 | |
| 30 familial hypertrophic cardiomyopathy 2 | |
| 30 familial hypertrophic cardiomyopathy 20 | |
| 30 familial hypertrophic cardiomyopathy 3 | |
| 30 familial hypertrophic cardiomyopathy 4 | |
| 30 familial hypertrophic cardiomyopathy 6 | |
| 30 familial hypertrophic cardiomyopathy 7 | |
| 30 familial hypertrophic cardiomyopathy 8 | |
| 30 familial hypertrophic cardiomyopathy 9 | |
| 30 fatal infantile mitochondrial cardiomyopathy | |
| 30 hypertrophic cardiomyopathy | |
| 30 mitochondrial encephalomyopathy | |
| 30 mitochondrial myopathy | |
| 30 mitochondrial myopathy, infantile, transient | |
| 30 mitochondrial myopathy, isolated | |
| 30 mitochondrial neurogastrointestinal encephalomyopathy syndrome | |
| 30 myopathy, early-onset, with fatal cardiomyopathy | |
| 30 myopathy, isolated mitochondrial, autosomal dominant | |
| 30 myopathy, isolated mitochondrial, autosomal dominant (1 family) | |
| 30 myopathy, mitochondrial | |
| 30 myopathy, mitochondrial, late-onset | |
| 30 myopathy, mitochondrial, with diabetes mellitus | |
| 30 neurogastrointestinal syndrome, mitochondrial | |
| 30 primary familial hypertrophic cardiomyopathy | |
| 31 b-cell non-hodgkin lymphoma, somatic | |
| 31 follicular lymphoma, somatic | |
| 31 hodgkin lymphoma | |
| 31 lymphoma, non-hodgkin | |
| 31 lymphoma, non-hodgkin, somatic | |
| 31 lymphoma, non-hodgkin, susceptibility to | |
| 31 lymphoma, somatic | |
| 31 malt lymphoma, somatic | |
| 31 mantle cell lymphoma | |
| 31 mantle cell lymphoma, somatic | |
| 31 non-hodgkin lymphoma | |
| 31 non-hodgkin lymphoma, somatic | |
| 32 hereditary paraganglioma-pheochromocytoma syndromes | |
| 32 hereditary paragangliomas and pheochromocytomas | |
| 32 phaeochromocytoma | |
| 32 pheochromocytoma | |
| 32 pheochromocytoma, modifier of | |
| 32 pheochromocytoma/paraganglioma | |
| 32 pheochromocytoma, somatic | |
| 32 pheochromocytoma, susceptibility to | |
| 33 andersen tawil syndrome | |
| 33 andersen-tawil syndrome | |
| 34 3-@methylglutaconic aciduria | |
| 34 3-methylglutaconic aciduria type 3 | |
| 34 3-@methylglutaconic aciduria, type i | |
| 34 3-methylglutaconic aciduria, type i | |
| 34 3-@methylglutaconic aciduria, type iii | |
| 34 3-@methylglutaconic aciduria, type v | |
| 35 autosomal dominant hypohidrotic ectodermal dysplasia | |
| 35 autosomal recessive hypohidrotic ectodermal dysplasia syndrome | |
| 35 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant | |
| 35 ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant | |
| 35 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive | |
| 35 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant | |
| 35 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive | |
| 35 ectodermal dysplasia 1, hypohidrotic/hair/tooth type, x-linked | |
| 35 ectodermal dysplasia 4, hair/nail type | |
| 35 ectodermal dysplasia 7, hair/nail type (1 family) | |
| 35 ectodermal dysplasia 9, hair/nail type | |
| 35 ectodermal dysplasia, anhidrotic, with immune deficiency | |
| 35 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant | |
| 35 ectodermal dysplasia, hidrotic | |
| 35 ectodermal dysplasia, hypohidrotic, with immune deficiency | |
| 35 ectodermal dysplasia, 'pure' hair-nail type | |
| 35 hidrotic ectodermal dysplasia syndrome | |
| 35 hyper-igm immunodeficiency, x-linked, with hypohidrotic ectodermal dysplasia | |
| 35 hypohidrotic ectodermal dysplasia | |
| 35 hypohidrotic ectodermal dysplasia with immune deficiency | |
| 35 hypohidrotic x-linked ectodermal dysplasia | |
| 35 x-linked hypohidrotic ectodermal dysplasia | |
| 36 arrhythmogenic right ventricular cardiomyopathy | |
| 36 arrhythmogenic right ventricular cardiomyopathy 10 | |
| 36 arrhythmogenic right ventricular cardiomyopathy 11 | |
| 36 arrhythmogenic right ventricular cardiomyopathy 5 | |
| 36 arrhythmogenic right ventricular cardiomyopathy 8 | |
| 36 arrhythmogenic right ventricular cardiomyopathy 9 | |
| 36 arrhythmogenic right ventricular cardiomyopathy, type 10 | |
| 36 arrhythmogenic right ventricular cardiomyopathy, type 8 | |
| 36 arrhythmogenic right ventricular cardiomyopathy, type 9 | |
| 36 arrhythmogenic right ventricular dysplasia | |
| 36 arrhythmogenic right ventricular dysplasia 1 | |
| 36 arrhythmogenic right ventricular dysplasia 2 | |
| 36 arrhythmogenic right ventricular dysplasia 8 | |
| 36 arrhythmogenic right ventricular dysplasia/cardiomyopathy | |
| 36 arrhythmogenic right ventricular dysplasia, familial, 10 | |
| 36 arrhythmogenic right ventricular dysplasia, familial, 11 | |
| 36 arrhythmogenic right ventricular dysplasia, familial, 12 | |
| 36 arrhythmogenic right ventricular dysplasia, familial, 13 | |
| 36 arrhythmogenic right ventricular dysplasia, familial, 2 | |
| 36 arrhythmogenic right ventricular dysplasia, familial, 5 | |
| 36 arrhythmogenic right ventricular dysplasia, familial, 8 | |
| 36 arrhythmogenic right ventricular dysplasia, familial, 9 | |
| 36 cardiomyopathy, arrhythmogenic right ventricular | |
| 36 cardiomyopathy, arrhythmogenic right ventricular dysplasia | |
| 36 cardiomyopathy, right ventricular arrhythmogenic | |
| 36 dysplasia, arrhythmogenic right ventricular | |
| 36 right ventricular cardiomyopathy | |
| 37 congenital lactase deficiency | |
| 37 lactase deficiency, congenital | |
| 38 atypical hemolytic uremic syndrome | |
| 38 atypical hemolytic-uremic syndrome | |
| 38 atypical hemolytic-uremic syndrome 5 | |
| 38 hemolytic uremic syndrome, atypical, susceptibility to | |
| 38 hemolytic uremic syndrome, atypical, susceptibility to, 1 | |
| 38 hemolytic uremic syndrome, atypical, susceptibility to, 2 | |
| 38 hemolytic uremic syndrome, atypical, susceptibility to, 3 | |
| 38 hemolytic uremic syndrome, atypical, susceptibility to, 4 | |
| 38 hemolytic uremic syndrome, atypical, susceptibility to, 5 | |
| 38 hemolytic uremic syndrome, atypical, susceptibility to, 6 | |
| 38 hemolytic uremic syndrome, atypical, susceptibility to, 7 | |
| 39 hypomyelinating leukodystrophy 7 | |
| 39 hypomyelinating leukodystrophy-7 | |
| 39 hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism | |
| 39 leukodystrophy, hypomyelinating, 10 | |
| 39 leukodystrophy, hypomyelinating, 11 | |
| 39 leukodystrophy, hypomyelinating, 2 | |
| 39 leukodystrophy, hypomyelinating, 3 | |
| 39 leukodystrophy, hypomyelinating, 4 | |
| 39 leukodystrophy, hypomyelinating, 5 | |
| 39 leukodystrophy, hypomyelinating, 6 | |
| 39 leukodystrophy, hypomyelinating, 7, with oligodontia | |
| 39 leukodystrophy, hypomyelinating, 7, with oligodontia and hypogonadotropic hypogonadism | |
| 39 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | |
| 39 leukodystrophy, hypomyelinating, 7, without oligodontia or hypogonadotropic hypogonadism | |
| 39 leukodystrophy, hypomyelinating, 8, with hypodontia and hypogonadotropic hypogonadism | |
| 39 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | |
| 39 leukodystrophy, hypomyelinating, 8, without hypodontia and with hypogonadotropic hypogonadism | |
| 39 leukodystrophy, hypomyelinating, 8, without hypodontia or hypogonadotropic hypogonadism | |
| 39 leukodystrophy, hypomyelinating, 9 | |
| 40 retinitis pigmentosa, x-linked, and sinorespiratory infections, with deafness | |
| 40 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness | |
| 41 deficiency of transaldolase | |
| 41 transaldolase deficiency | |
| 42 bothnia retinal dystrophy | |
| 42 cone dystrophy 3 | |
| 42 cone dystrophy 4 | |
| 42 cone dystrophy 5, x-linked | |
| 42 cone dystrophy, x-linked, 1 | |
| 42 cone-rod dystrophy | |
| 42 cone-rod dystrophy 10 | |
| 42 cone-rod dystrophy 11 | |
| 42 cone-rod dystrophy 12 | |
| 42 cone-rod dystrophy 13 | |
| 42 cone-rod dystrophy 14 | |
| 42 cone-rod dystrophy 15 | |
| 42 cone-rod dystrophy 16 | |
| 42 cone-rod dystrophy 18 | |
| 42 cone-rod dystrophy 19 | |
| 42 cone-rod dystrophy 2 | |
| 42 cone-rod dystrophy 20 | |
| 42 cone-rod dystrophy 21 | |
| 42 cone-rod dystrophy 3 | |
| 42 cone-rod dystrophy 5 | |
| 42 cone-rod dystrophy 6 | |
| 42 cone-rod dystrophy 7 | |
| 42 cone-rod dystrophy 9 | |
| 42 cone-rod dystrophy, aipl1-related | |
| 42 cone-rod dystrophy, x-linked 1 | |
| 42 cone-rod dystrophy, x-linked, 1 | |
| 42 cone-rod dystrophy x-linked 3 | |
| 42 cone-rod dystrophy, x-linked, 3 | |
| 42 macular dystrophy, retinal, 2 | |
| 42 newfoundland rod-cone dystrophy | |
| 42 pigmentary retinal dystrophy | |
| 42 retinal cone dystrophy 3a | |
| 42 retinal cone dystrophy 3b | |
| 42 retinal cone dystrophy 4 | |
| 42 retinal dystrophy | |
| 42 retinal dystrophy and obesity (1 family) | |
| 43 medulloblastoma with extensive nodularity | |
| 43 medulloblastoma, with extensive nodularity | |
| 44 21-hydroxylase-deficient congenital adrenal hyperplasia | |
| 44 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | |
| 44 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, classic type | |
| 44 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, late-onset form | |
| 44 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, nonclassic type | |
| 44 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, salt-wasting type | |
| 44 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency | |
| 44 adrenal hypoplasia, congenital | |
| 44 congenital adrenal hyperplasia | |
| 44 congenital adrenal hypoplasia, x-linked | |
| 44 congenital lipoid adrenal hyperplasia | |
| 44 lipoid congenital adrenal hyperplasia | |
| 44 x-linked adrenal hypoplasia congenita | |
| 45 agammaglobulinemia 1 | |
| 45 agammaglobulinemia 2, autosomal recessive (1 family) | |
| 45 agammaglobulinemia 3 | |
| 45 agammaglobulinemia 4, autosomal recessive (1 family) | |
| 45 agammaglobulinemia 5 (1 family) | |
| 45 agammaglobulinemia 6 | |
| 45 agammaglobulinemia 7, autosomal recessive (1 family) | |
| 45 agammaglobulinemia, non-bruton type | |
| 45 agammaglobulinemia, x-linked | |
| 45 hypoagammaglobulinemia, x-linked | |
| 45 hypogammaglobulinemia, x-linked | |
| 45 x-linked agammaglobulinemia | |
| 46 familial hypercholesterolemia | |
| 46 hypercholesterolaemia | |
| 46 hypercholesterolemia, autosomal dominant, 3 | |
| 46 hypercholesterolemia, autosomal dominant, type b | |
| 46 hypercholesterolemia, autosomal recessive | |
| 46 hypercholesterolemia, familial | |
| 46 hypercholesterolemia, familial, 3 | |
| 46 hypercholesterolemia, familial, due to ldlr defect, modifier of | |
| 46 hypercholesterolemia, familial, modification of | |
| 46 hypercholesterolemia, familial, modifier of | |
| 46 hypercholesterolemia, susceptibility to | |
| 47 alzheimer disease | |
| 47 alzheimer disease 18, susceptibility to | |
| 47 alzheimer disease 19, susceptibility to | |
| 47 alzheimer disease, familial, 1 | |
| 47 alzheimer disease, familial, 3 | |
| 47 alzheimer disease, familial, 4 | |
| 47 alzheimer disease, susceptibility to | |
| 47 alzheimer disease, type 3 | |
| 47 alzheimer''s disease | |
| 48 epilepsy, childhood absence 2 | |
| 48 epilepsy, childhood absence 5 | |
| 48 epilepsy, childhood absence, susceptibility to, 2 | |
| 48 epilepsy, childhood absence, susceptibility to, 4 | |
| 48 epilepsy, childhood absence, susceptibility to, 5 | |
| 48 epilepsy, childhood absence, susceptibility to, 6 | |
| 49 amyotrophic lateral sclerosis 1 | |
| 49 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and with tdp43 inclusions | |
| 49 amyotrophic lateral sclerosis 10 without frontotemporal dementia and with tdp43 inclusions | |
| 49 amyotrophic lateral sclerosis 11 | |
| 49 amyotrophic lateral sclerosis 12 | |
| 49 amyotrophic lateral sclerosis 14 with or without frontotemporal dementia | |
| 49 amyotrophic lateral sclerosis 14 without frontotemporal dementia | |
| 49 amyotrophic lateral sclerosis 15 with frontotemporal dementia | |
| 49 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia | |
| 49 amyotrophic lateral sclerosis 16, juvenile | |
| 49 amyotrophic lateral sclerosis 16, juvenile (1 family) | |
| 49 amyotrophic lateral sclerosis 17 | |
| 49 amyotrophic lateral sclerosis 18 | |
| 49 amyotrophic lateral sclerosis 19 | |
| 49 amyotrophic lateral sclerosis 1, autosomal recessive | |
| 49 amyotrophic lateral sclerosis 20 | |
| 49 amyotrophic lateral sclerosis 21 | |
| 49 amyotrophic lateral sclerosis 22 with frontotemporal dementia | |
| 49 amyotrophic lateral sclerosis 22 without frontotemporal dementia | |
| 49 amyotrophic lateral sclerosis 2, juvenile | |
| 49 amyotrophic lateral sclerosis 4, juvenile | |
| 49 amyotrophic lateral sclerosis 5, juvenile | |
| 49 amyotrophic lateral sclerosis 6, autosomal recessive | |
| 49 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia | |
| 49 amyotrophic lateral sclerosis 6 without frontotemporal dementia | |
| 49 amyotrophic lateral sclerosis 8 | |
| 49 amyotrophic lateral sclerosis 9 | |
| 49 amyotrophic lateral sclerosis in males, susceptibility to | |
| 49 amyotrophic lateral sclerosis, susceptibility to | |
| 49 amyotrophic lateral sclerosis, susceptibility to, 13 | |
| 49 amyotrophic lateral sclerosis, susceptibility to (1 family) | |
| 49 amyotrophic lateral sclerosis type 1 | |
| 49 amyotrophic lateral sclerosis type 10 | |
| 49 amyotrophic lateral sclerosis type 4 | |
| 49 amyotrophic lateral sclerosis, typical | |
| 49 frontotemporal dementia and/or amyotrophic lateral sclerosis | |
| 49 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | |
| 49 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | |
| 49 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | |
| 49 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | |
| 49 primary lateral sclerosis, juvenile | |
| 49 tardbp-related amyotrophic lateral sclerosis | |
| 50 pulmonary fibrosis, idiopathic | |
| 50 pulmonary fibrosis, idiopathic, susceptibility to | |
| 51 meckel syndrome 1 | |
| 51 meckel syndrome 12 (1 family) | |
| 51 meckel syndrome 3 | |
| 51 meckel syndrome 8 | |
| 51 meckel syndrome type 1 | |
| 51 meckel syndrome, type 1 | |
| 51 meckel syndrome, type 10 | |
| 51 meckel syndrome, type 11 | |
| 51 meckel syndrome type 2 | |
| 51 meckel syndrome, type 2 | |
| 51 meckel syndrome type 3 | |
| 51 meckel syndrome, type 3 | |
| 51 meckel syndrome type 4 | |
| 51 meckel syndrome, type 4 | |
| 51 meckel syndrome type 5 | |
| 51 meckel syndrome, type 5 | |
| 51 meckel syndrome type 6 | |
| 51 meckel syndrome, type 6 | |
| 51 meckel syndrome, type 7 | |
| 51 meckel syndrome, type 8 (1 family) | |
| 51 meckel syndrome, type 9 (1 family) | |
| 51 seckel syndrome 1 | |
| 51 seckel syndrome 2 | |
| 51 seckel syndrome 4 | |
| 51 seckel syndrome 5 | |
| 51 seckel syndrome 6 | |
| 51 seckel syndrome 6 (1 family) | |
| 51 seckel syndrome 7 | |
| 51 seckel syndrome 8 (1 family) | |
| 52 choroidal dystrophy, central areolar 2 | |
| 52 choroidal dystrophy, central areolar, 2 | |
| 53 cardiac conduction disease with or without dilated cardiomyopathy (1 family) | |
| 53 cardiomyopathy | |
| 53 cardiomyopathy and deafness | |
| 53 cardiomyopathy, dilated | |
| 53 cardiomyopathy, dilated, 1a | |
| 53 cardiomyopathy, dilated, 1aa | |
| 53 cardiomyopathy, dilated, 1bb, susceptibility to | |
| 53 cardiomyopathy, dilated 1c | |
| 53 cardiomyopathy, dilated, 1c | |
| 53 cardiomyopathy, dilated, 1cc | |
| 53 cardiomyopathy, dilated, 1d | |
| 53 cardiomyopathy, dilated, 1dd | |
| 53 cardiomyopathy, dilated, 1e | |
| 53 cardiomyopathy, dilated, 1ee | |
| 53 cardiomyopathy, dilated, 1ff | |
| 53 cardiomyopathy, dilated, 1g | |
| 53 cardiomyopathy, dilated, 1gg | |
| 53 cardiomyopathy, dilated, 1hh | |
| 53 cardiomyopathy, dilated, 1i | |
| 53 cardiomyopathy, dilated, 1i (1 family) | |
| 53 cardiomyopathy, dilated, 1ii | |
| 53 cardiomyopathy, dilated, 1j | |
| 53 cardiomyopathy, dilated, 1jj | |
| 53 cardiomyopathy, dilated, 1kk | |
| 53 cardiomyopathy, dilated, 1l | |
| 53 cardiomyopathy, dilated, 1ll | |
| 53 cardiomyopathy, dilated, 1m | |
| 53 cardiomyopathy, dilated, 1m (1 family) | |
| 53 cardiomyopathy, dilated, 1mm | |
| 53 cardiomyopathy, dilated, 1n | |
| 53 cardiomyopathy, dilated, 1nn | |
| 53 cardiomyopathy, dilated, 1o | |
| 53 cardiomyopathy, dilated, 1p | |
| 53 cardiomyopathy, dilated, 1r | |
| 53 cardiomyopathy, dilated, 1s | |
| 53 cardiomyopathy, dilated, 1t (1 family) | |
| 53 cardiomyopathy, dilated, 1u | |
| 53 cardiomyopathy, dilated, 1v | |
| 53 cardiomyopathy, dilated, 1w | |
| 53 cardiomyopathy, dilated, 1x | |
| 53 cardiomyopathy, dilated, 1y | |
| 53 cardiomyopathy, dilated, 1z | |
| 53 cardiomyopathy, dilated, 2a (1 family) | |
| 53 cardiomyopathy, dilated, 2b (1 family) | |
| 53 cardiomyopathy, dilated, 3b | |
| 53 cataract and cardiomyopathy | |
| 53 dilated cardiomyopathy | |
| 53 dilated cardiomyopathy 1a | |
| 53 dilated cardiomyopathy 1aa | |
| 53 dilated cardiomyopathy 1cc | |
| 53 dilated cardiomyopathy 1e | |
| 53 dilated cardiomyopathy 1f | |
| 53 dilated cardiomyopathy 1ff | |
| 53 dilated cardiomyopathy 1g | |
| 53 dilated cardiomyopathy 1m | |
| 53 dilated cardiomyopathy 1n | |
| 53 dilated cardiomyopathy 1p | |
| 53 dilated cardiomyopathy 1s | |
| 53 dilated cardiomyopathy 1y | |
| 53 dilated cardiomyopathy 3b | |
| 53 lmna-related dilated cardiomyopathy | |
| 53 primary dilated cardiomyopathy | |
| 54 antley-bixler syndrome with genital anomalies and disordered steroidogenesis | |
| 54 antley-bixler syndrome without genital anomalies or disordered steroidogenesis | |
| 55 heterotaxy, visceral, 1, x-linked | |
| 55 heterotaxy, visceral, 2, autosomal | |
| 55 heterotaxy, visceral, 4, autosomal | |
| 55 heterotaxy, visceral, 5, autosomal | |
| 55 heterotaxy, visceral, 6, autosomal | |
| 55 heterotaxy, visceral, x-linked | |
| 55 visceral heterotaxy 5, autosomal | |
| 56 loeys-dietz syndrome | |
| 56 loeys-dietz syndrome 1 | |
| 56 loeys-dietz syndrome 2 | |
| 56 loeys-dietz syndrome 3 | |
| 56 loeys-dietz syndrome 4 | |
| 56 loeys-dietz syndrome 5 | |
| 56 loeys-dietz syndrome, type 1 | |
| 56 loeys-dietz syndrome, type 2 | |
| 57 osteopetrosis, autosomal recessive 1 | |
| 57 osteopetrosis, autosomal recessive 2 | |
| 57 osteopetrosis, autosomal recessive 3 | |
| 57 osteopetrosis, autosomal recessive 4 | |
| 57 osteopetrosis autosomal recessive 5 | |
| 57 osteopetrosis, autosomal recessive 5 | |
| 57 osteopetrosis, autosomal recessive 6 | |
| 57 osteopetrosis, autosomal recessive 7 | |
| 57 osteopetrosis, autosomal recessive 8 | |
| 58 cardiac arrhythmia, ankyrin b-related | |
| 58 cardiac arrhythmia, ankyrin-b-related | |
| 59 frontotemporal lobar degeneration with ubiquitin-positive inclusions | |
| 59 frontotemporal lobar degeneration with ubiquitin-positive inclusions, susceptibility to | |
| 60 moyamoya disease 2 | |
| 60 moyamoya disease 2, susceptibility to | |
| 60 moyamoya disease 5 | |
| 61 wilms tumor | |
| 61 wilms tumor 1 | |
| 61 wilms tumor 2 | |
| 61 wilms tumor 5 | |
| 61 wilms tumor, somatic | |
| 61 wilms tumor, susceptibility to | |
| 62 alpha-1 antitrypsin deficiency | |
| 62 alpha-1-antitrypsin deficiency | |
| 62 antitrypsin alpha 1 deficiency | |
| 63 classical primary microcephaly | |
| 63 lissencephaly | |
| 63 lissencephaly 1 | |
| 63 lissencephaly 3 | |
| 63 lissencephaly 4 | |
| 63 lissencephaly 5 | |
| 63 lissencephaly 6, with microcephaly | |
| 63 lissencephaly, x-linked | |
| 63 lissencephaly, x-linked, 1 | |
| 63 lissencephaly, x-linked 2 | |
| 63 lissencephaly, x-linked, 2 | |
| 63 macrocephaly | |
| 63 macrocephaly/autism syndrome | |
| 63 microcephaly | |
| 63 microcephaly 10, primary, autosomal recessive | |
| 63 microcephaly 10, primary, autosomal recessive (1 family) | |
| 63 microcephaly 11, primary, autosomal recessive (1 family) | |
| 63 microcephaly 12, primary, autosomal recessive (1 family) | |
| 63 microcephaly 13, primary, autosomal recessive (1 family) | |
| 63 microcephaly 14, primary, autosomal recessive (1 family) | |
| 63 microcephaly 16, primary, autosomal recessive (1 family) | |
| 63 microcephaly 1, primary, autosomal recessive | |
| 63 microcephaly 2, primary, autosomal recessive | |
| 63 microcephaly 2, primary, autosomal recessive, with cortical malformations | |
| 63 microcephaly 2, primary, autosomal recessive, with or without cortical malformations | |
| 63 microcephaly 3, primary, autosomal recessive | |
| 63 microcephaly 4, primary, autosomal recessive | |
| 63 microcephaly 5, primary, autosomal recessive | |
| 63 microcephaly 6, primary, autosomal recessive | |
| 63 microcephaly 7, primary, autosomal recessive | |
| 63 microcephaly 8, primary, autosomal recessive (1 family) | |
| 63 microcephaly 9, primary, autosomal recessive | |
| 63 microcephaly, amish type | |
| 63 primary autosomal recessive microcephaly | |
| 63 primary autosomal recessive microcephaly 3 | |
| 63 primary autosomal recessive microcephaly 5 | |
| 63 primary microcephaly | |
| 63 severe primary microcephaly | |
| 64 cowden disease | |
| 64 cowden disease 1 | |
| 64 cowden-like syndrome | |
| 64 cowden syndrome | |
| 64 cowden syndrome 1 | |
| 64 cowden syndrome 2 | |
| 64 cowden syndrome 3 | |
| 64 cowden syndrome 4 | |
| 64 cowden syndrome 5 | |
| 64 cowden syndrome 6 | |
| 65 corneal dystrophy, fuchs endothelial, 1 | |
| 65 corneal dystrophy, fuchs endothelial, 3 | |
| 65 corneal dystrophy, fuchs endothelial, 4 | |
| 65 corneal dystrophy, fuchs endothelial, 6 | |
| 65 corneal dystrophy, fuchs endothelial, 8 | |
| 65 corneal endothelial dystrophy 2 | |
| 65 corneal endothelial dystrophy type 2 | |
| 66 glycogen storage disease 0, liver | |
| 66 glycogen storage disease 0, muscle | |
| 66 glycogen storage disease 6 | |
| 66 glycogen storage disease 7 | |
| 66 glycogen storage disease ia | |
| 66 glycogen storage disease ib | |
| 66 glycogen storage disease ic | |
| 66 glycogen storage disease ii | |
| 66 glycogen storage disease ii, adult form | |
| 66 glycogen storage disease ii, infantile form | |
| 66 glycogen storage disease iv, childhood neuromuscular | |
| 66 glycogen storage disease iv, classic hepatic | |
| 66 glycogen storage disease iv, combined hepatic and myopathic | |
| 66 glycogen storage disease iv, congenital neuromuscular | |
| 66 glycogen storage disease iv, fatal perinatal neuromuscular | |
| 66 glycogen storage disease iv, nonprogressive hepatic | |
| 66 glycogen storage disease ixb | |
| 66 glycogen storage disease ixc | |
| 66 glycogen storage disease type 1a | |
| 66 glycogen storage disease type i | |
| 66 glycogen storage disease, type ii | |
| 66 glycogen storage disease type iii | |
| 66 glycogen storage disease, type iiia | |
| 66 glycogen storage disease, type iiib | |
| 66 glycogen storage disease, type iiic | |
| 66 glycogen storage disease type ii (pompe disease) | |
| 66 glycogen storage disease, type iv | |
| 66 glycogen storage disease type ixa1 | |
| 66 glycogen storage disease, type ixa1 | |
| 66 glycogen storage disease, type ixa2 | |
| 66 glycogen storage disease, type ixd | |
| 66 glycogen storage disease, type v | |
| 66 glycogen storage disease type vi | |
| 66 glycogen storage disease, type vi | |
| 66 glycogen storage disease type x | |
| 66 glycogen storage disease vi | |
| 66 glycogen storage disease vii | |
| 66 glycogen storage disease x | |
| 66 glycogen storage disease xi | |
| 66 glycogen storage disease xii | |
| 66 glycogen storage disease xiii (1 patient) | |
| 66 glycogen storage disease xv (1 patient) | |
| 67 ceroid lipofuscinosis neuronal 1 | |
| 67 ceroid lipofuscinosis, neuronal, 1 | |
| 67 ceroid lipofuscinosis neuronal 10 | |
| 67 ceroid lipofuscinosis, neuronal, 10 | |
| 67 ceroid lipofuscinosis, neuronal, 11 | |
| 67 ceroid lipofuscinosis, neuronal, 12 (1 family) | |
| 67 ceroid lipofuscinosis, neuronal, 13 | |
| 67 ceroid lipofuscinosis, neuronal, 2 | |
| 67 ceroid lipofuscinosis, neuronal, 3 | |
| 67 ceroid lipofuscinosis, neuronal, 3, protracted | |
| 67 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive | |
| 67 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant | |
| 67 ceroid lipofuscinosis neuronal 5 | |
| 67 ceroid lipofuscinosis, neuronal, 5 | |
| 67 ceroid lipofuscinosis neuronal 6 | |
| 67 ceroid lipofuscinosis, neuronal, 6 | |
| 67 ceroid lipofuscinosis, neuronal, 7 | |
| 67 ceroid lipofuscinosis neuronal 8 | |
| 67 ceroid lipofuscinosis, neuronal, 8 | |
| 67 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | |
| 67 juvenile neuronal ceroid lipofuscinosis | |
| 67 neuronal ceroid-lipofuscinoses | |
| 68 combined d-2- and l-2 -hydroxyglutaric aciduria | |
| 68 combined d-2- and l-2-hydroxyglutaric aciduria | |
| 68 d-2-hydroxyglutaric aciduria | |
| 68 d-2-hydroxyglutaric aciduria 1 | |
| 68 d-2-hydroxyglutaric aciduria 2 | |
| 68 glutaric acidemia i | |
| 68 glutaric acidemia iia | |
| 68 glutaric acidemia iib | |
| 68 glutaric acidemia iic | |
| 68 glutaric acidemia iic, late-onset | |
| 68 glutaric aciduria iii | |
| 68 glutaric aciduria, type 1 | |
| 68 glutaric aciduria, type 2 | |
| 68 l-2-hydroxyglutaric aciduria | |
| 69 bernard soulier syndrome | |
| 69 bernard-soulier syndrome | |
| 69 bernard-soulier syndrome, type a1 | |
| 69 bernard-soulier syndrome, type a2, autosomal dominant | |
| 69 bernard soulier syndrome, type b | |
| 69 bernard-soulier syndrome, type c | |
| 70 snyder robinson syndrome | |
| 70 snyder-robinson syndrome | |
| 71 familial medullary thyroid carcinoma | |
| 71 medullary thyroid cancer | |
| 71 thyroid cancer | |
| 71 thyroid cancer, nonmedullary, 2 | |
| 71 thyroid cancer, nonmedullary, 2, susceptibility to | |
| 71 thyroid cancer, nonmedullary, 4 | |
| 71 thyroid cancer, nonmedullary, 5, susceptibility to | |
| 71 thyroid carcinoma, familial medullary | |
| 71 thyroid carcinoma, medullary | |
| 71 thyroid carcinoma, sporadic medullary | |
| 72 spastic paraplegia 10 with or without peripheral neuropathy | |
| 72 spastic paraplegia 10 with peripheral neuropathy | |
| 73 deafness, autosomal dominant, without vestibular involvement | |
| 73 deafness, autosomal recessive 36, without vestibular involvement | |
| 73 deafness, autosomal recessive 36, with vestibular involvement | |
| 74 colon cancer, hereditary nonpolyposis, type 5 | |
| 74 colon cancer, hereditary nonpolyposis, type 6, somatic | |
| 74 colorectal cancer, hereditary nonpolyposis, type 1 | |
| 74 colorectal cancer, hereditary, nonpolyposis, type 1 | |
| 74 colorectal cancer, hereditary nonpolyposis, type 2 | |
| 74 colorectal cancer, hereditary nonpolyposis, type 4 | |
| 74 colorectal cancer, hereditary nonpolyposis, type 5 | |
| 74 colorectal cancer, hereditary nonpolyposis, type 5, digenic | |
| 74 colorectal cancer, hereditary nonpolyposis, type 6 | |
| 74 colorectal cancer, hereditary nonpolyposis, type 7 | |
| 74 colorectal cancer, hereditary nonpolyposis, type 8 | |
| 74 colorectal cancer, non-polyposis | |
| 74 hereditary non-polyposis colon cancer | |
| 74 hereditary nonpolyposis colorectal cancer type 4 | |
| 74 hereditary nonpolyposis colorectal cancer type 5 | |
| 75 cytochrome c oxidase deficiency | |
| 75 cytochrome-c oxidase deficiency | |
| 75 cytochrome c oxidase i deficiency | |
| 75 mitochondrial cytochrome c oxidase deficiency | |
| 76 adenomatous polyposis coli | |
| 76 adenomatous polyposis coli with congenital cholesteatoma | |
| 76 familial adenomatous polyposis | |
| 76 familial adenomatous polyposis 1 | |
| 76 familial adenomatous polyposis 1, attenuated | |
| 76 familial adenomatous polyposis 1, susceptibility to | |
| 76 familial adenomatous polyposis 2 | |
| 76 familial adenomatous polyposis 2 with pilomatricomas | |
| 76 familial adenomatous polyposis 3 | |
| 77 amish infantile epilepsy syndrome | |
| 77 epilepsy, familial adult myoclonic, 2 | |
| 77 epilepsy, familial adult myoclonic, 5 (1 family) | |
| 77 epilepsy, juvenile myoclonic, susceptibility to, 5 | |
| 77 epilepsy, juvenile myoclonic, susceptibility to, 6 | |
| 77 epilepsy, juvenile myoclonic, susceptibility to, 7 | |
| 77 epilepsy, juvenile myoclonic, susceptibility to, 8 | |
| 77 infantile epilepsy | |
| 77 myoclonic-atonic epilepsy | |
| 77 myoclonic epilepsy, familial infantile | |
| 77 myoclonic epilepsy, infantile, familial | |
| 77 myoclonic epilepsy, juvenile, susceptibility to, 1 | |
| 77 severe myoclonic epilepsy in infancy | |
| 77 severe myoclonic epilepsy of infancy | |
| 78 sea-blue histiocyte disease | |
| 78 sea-blue histiocyte syndrome | |
| 79 gilbert syndrome | |
| 79 gilbert syndrome, susceptibility to | |
| 80 cataract 10, multiple types | |
| 80 cataract 12, multiple types | |
| 80 cataract 15, multiple types | |
| 80 cataract 1, multiple types | |
| 80 cataract 20, multiple types | |
| 80 cataract 21, multiple types, with microcornea | |
| 80 cataract 21, multiple types, with or without microcornea | |
| 80 cataract 22, multiple types, autosomal dominant | |
| 80 cataract 2, multiple types | |
| 80 cataract 31, multiple types | |
| 80 cataract 39, multiple types | |
| 80 cataract 3, multiple types | |
| 80 cataract 4, multiple types | |
| 80 cataract 5, multiple types | |
| 80 cataract 9, multiple types, with microcornea | |
| 80 cataract 9, multiple types, with or without microcornea | |
| 81 dystonia-parkinsonism, x-linked | |
| 81 x-linked dystonia-parkinsonism syndrome | |
| 82 spinal muscular atrophy, lower extremity predominant 1, autosomal dominant | |
| 82 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant | |
| 82 spinal muscular atrophy, lower-extremity predominant, 1, autosomal dominant | |
| 82 spinal muscular atrophy, lower extremity-predominant, 2, ad | |
| 82 spinal muscular atrophy, lower extremity-predominant, 2, autosomal dominant | |
| 83 porphyria cutanea tarda | |
| 83 porphyria cutanea tarda, susceptibility to | |
| 84 dementia, frontotemporal | |
| 84 dementia, frontotemporal, with parkinsonism | |
| 84 frontotemporal dementia | |
| 84 grn-related frontotemporal dementia | |
| 85 dyskeratosis congenita | |
| 85 dyskeratosis congenita, autosomal dominant 1 | |
| 85 dyskeratosis congenita, autosomal dominant 2 | |
| 85 dyskeratosis congenita, autosomal dominant 3 | |
| 85 dyskeratosis congenita, autosomal dominant 4 | |
| 85 dyskeratosis congenita, autosomal dominant 6 (1 family) | |
| 85 dyskeratosis congenita, autosomal recessive 1 | |
| 85 dyskeratosis congenita, autosomal recessive 2 | |
| 85 dyskeratosis congenita, autosomal recessive 3 | |
| 85 dyskeratosis congenita, autosomal recessive 4 | |
| 85 dyskeratosis congenita, autosomal recessive 5 | |
| 85 dyskeratosis congenita, autosomal recessive, 5 | |
| 85 dyskeratosis congenita, autosomal recessive 6 | |
| 85 dyskeratosis congenita, autosomal recessive 7 | |
| 85 dyskeratosis congenita, autosomal recessive 7 (1 family) | |
| 85 dyskeratosis congenita x-linked | |
| 85 dyskeratosis congenita, x-linked | |
| 86 als2-related disorders | |
| 86 cdc73-related disorders | |
| 86 cftr-related disorders | |
| 86 col4a1-related disorders | |
| 86 flnb-related disorders | |
| 86 joubert syndrome and related disorders | |
| 86 kat6b-related disorders | |
| 86 kcnq2-related disorders | |
| 86 mecp2-related disorders | |
| 86 med12-related disorders | |
| 86 myh9 related disorders | |
| 86 myh9-related disorders | |
| 86 nsdhl-related disorders | |
| 86 polg-related disorders | |
| 86 wfs1-related disorders | |
| 87 dementia, lewy body | |
| 87 dementia, lewy body, susceptibility to | |
| 88 parkinson disease | |
| 88 parkinson disease 11 | |
| 88 parkinson disease 11, autosomal dominant, susceptibility to | |
| 88 parkinson disease 13, autosomal dominant, susceptibility to | |
| 88 parkinson disease 14 | |
| 88 parkinson disease 17 | |
| 88 parkinson disease 18, autosomal dominant, susceptibility to | |
| 88 parkinson disease 1, autosomal dominant | |
| 88 parkinson disease 21 | |
| 88 parkinson disease 22, autosomal dominant | |
| 88 parkinson disease 4, autosomal dominant | |
| 88 parkinson disease 5, autosomal dominant, susceptibility to (1 family) | |
| 88 parkinson disease 8 | |
| 88 parkinson disease 8, autosomal dominant | |
| 88 parkinson disease 8, susceptibility to | |
| 88 parkinson disease 9 | |
| 88 parkinson disease, susceptibility to | |
| 88 parkinsonism | |
| 88 parkinson's disease | |
| 88 x-linked dominant parkinson's disease | |
| 89 aortopathy | |
| 89 familial aortopathy | |
| 90 marfan''s syndrome | |
| 90 marfan's syndrome | |
| 90 marfan syndrome | |
| 90 marfan syndrome, mild | |
| 91 epilepsy, generalized, with febrile seizures plus, type 2 | |
| 91 generalized epilepsy and febrile seizures | |
| 91 generalized epilepsy with atypical absence and tonic/myoclonic seizures | |
| 91 generalized epilepsy with atypical absence seizures | |
| 91 generalized epilepsy with febrile seizures plus | |
| 91 generalized epilepsy with febrile seizures plus, type 1 | |
| 91 generalized epilepsy with febrile seizures plus, type 2 | |
| 91 generalized epilepsy with febrile seizures plus, type 3 | |
| 91 generalized epilepsy with febrile seizures plus, type 5, susceptibility to | |
| 91 generalized epilepsy with febrile seizures plus, type 7 | |
| 91 generalized epilepsy with febrile seizures plus, type 9 | |
| 91 generalized seizures | |
| 92 3 methylcrotonyl-coa carboxylase 1 deficiency | |
| 92 3-@methylcrotonyl-coa carboxylase 1 deficiency | |
| 92 3-@methylcrotonyl-coa carboxylase 2 deficiency | |
| 92 3-methylcrotonyl coa carboxylase 2 deficiency | |
| 93 acrodysostosis 1 with hormone resistance | |
| 93 acrodysostosis 1 without hormone resistance | |
| 93 acrodysostosis 2 with hormone resistance | |
| 93 acrodysostosis 2 without hormone resistance | |
| 94 mucopolysaccharidosis ih | |
| 94 mucopolysaccharidosis ih/s | |
| 94 mucopolysaccharidosis is | |
| 94 mucopolysaccharidosis, mps-ii | |
| 94 mucopolysaccharidosis, mps-iii-a | |
| 94 mucopolysaccharidosis, mps-iii-b | |
| 94 mucopolysaccharidosis, mps-iv-a | |
| 94 mucopolysaccharidosis, mps-iv-b | |
| 94 mucopolysaccharidosis type 1 | |
| 94 mucopolysaccharidosis, type ii | |
| 94 mucopolysaccharidosis, type iiia | |
| 94 mucopolysaccharidosis, type iiia, attenuated | |
| 94 mucopolysaccharidosis, type iiib | |
| 94 mucopolysaccharidosis, type iiic | |
| 94 mucopolysaccharidosis, type iiid | |
| 94 mucopolysaccharidosis, type ii, mild form | |
| 94 mucopolysaccharidosis, type ii, severe form | |
| 94 mucopolysaccharidosis type iva | |
| 94 mucopolysaccharidosis, type iva | |
| 94 mucopolysaccharidosis, type ivb | |
| 94 mucopolysaccharidosis, type ix (1 patient) | |
| 94 mucopolysaccharidosis type vi | |
| 94 mucopolysaccharidosis, type vi | |
| 94 mucopolysaccharidosis type vii | |
| 94 mucopolysaccharidosis, type vii | |
| 94 mucopolysaccharidosis, type vi, intermediate | |
| 94 mucopolysaccharidosis type vi (maroteaux-lamy) | |
| 94 mucopolysaccharidosis, type vi, mild | |
| 94 mucopolysaccharidosis, type vi, severe | |
| 95 ankyloblepharon-ectodermal defects-cleft lip/palate | |
| 95 ankyloblepharon-ectodermal defects, cleft lip/palate | |
| 96 mulibrey nanism | |
| 96 mulibrey nanism syndrome | |
| 97 jp and jp/hht | |
| 97 jp/hht | |
| 97 jp, jp/hht, and hht | |
| 98 retinitis pigmentosa | |
| 98 retinitis pigmentosa 1 | |
| 98 retinitis pigmentosa 10 | |
| 98 retinitis pigmentosa 11 | |
| 98 retinitis pigmentosa 12 | |
| 98 retinitis pigmentosa 13 | |
| 98 retinitis pigmentosa 14 | |
| 98 retinitis pigmentosa 15 | |
| 98 retinitis pigmentosa 17 | |
| 98 retinitis pigmentosa 18 | |
| 98 retinitis pigmentosa 19 | |
| 98 retinitis pigmentosa 2 | |
| 98 retinitis pigmentosa 20 | |
| 98 retinitis pigmentosa 23 (1 family) | |
| 98 retinitis pigmentosa 25 | |
| 98 retinitis pigmentosa 26 | |
| 98 retinitis pigmentosa 27 | |
| 98 retinitis pigmentosa 28 | |
| 98 retinitis pigmentosa 3 | |
| 98 retinitis pigmentosa 30 | |
| 98 retinitis pigmentosa 31 | |
| 98 retinitis pigmentosa 33 | |
| 98 retinitis pigmentosa 35 | |
| 98 retinitis pigmentosa 36 | |
| 98 retinitis pigmentosa 37 | |
| 98 retinitis pigmentosa 38 | |
| 98 retinitis pigmentosa 39 | |
| 98 retinitis pigmentosa 4 | |
| 98 retinitis pigmentosa 40 | |
| 98 retinitis pigmentosa 41 | |
| 98 retinitis pigmentosa 42 | |
| 98 retinitis pigmentosa 43 | |
| 98 retinitis pigmentosa 44 | |
| 98 retinitis pigmentosa 45 | |
| 98 retinitis pigmentosa 46 | |
| 98 retinitis pigmentosa 47 | |
| 98 retinitis pigmentosa 48 | |
| 98 retinitis pigmentosa 49 | |
| 98 retinitis pigmentosa 4, autosomal recessive | |
| 98 retinitis pigmentosa 50 | |
| 98 retinitis pigmentosa 51 (1 family) | |
| 98 retinitis pigmentosa 53 | |
| 98 retinitis pigmentosa 54 | |
| 98 retinitis pigmentosa 55 (1 family) | |
| 98 retinitis pigmentosa 56 | |
| 98 retinitis pigmentosa 57 | |
| 98 retinitis pigmentosa 58 | |
| 98 retinitis pigmentosa 59 | |
| 98 retinitis pigmentosa 60 | |
| 98 retinitis pigmentosa 61 | |
| 98 retinitis pigmentosa 62 | |
| 98 retinitis pigmentosa 64 | |
| 98 retinitis pigmentosa 65 | |
| 98 retinitis pigmentosa 66 (1 family) | |
| 98 retinitis pigmentosa 67 (1 patient) | |
| 98 retinitis pigmentosa 68 | |
| 98 retinitis pigmentosa 69 | |
| 98 retinitis pigmentosa 7 | |
| 98 retinitis pigmentosa 70 | |
| 98 retinitis pigmentosa 71 | |
| 98 retinitis pigmentosa 72 | |
| 98 retinitis pigmentosa 73 | |
| 98 retinitis pigmentosa 74 | |
| 98 retinitis pigmentosa 7, digenic | |
| 98 retinitis pigmentosa 9 (1 patient) | |
| 98 retinitis pigmentosa, concentric | |
| 98 retinitis pigmentosa-deafness syndrome | |
| 98 retinitis pigmentosa with or without situs inversus | |
| 98 retinitis pigmentosa without situs inversus | |
| 99 pendred''s syndrome | |
| 99 pendred's syndrome | |
| 99 pendred syndrome | |
| 100 cerebellar hypoplasia | |
| 100 cerebellar vermis hypoplasia | |
| 100 olivopontocerebellar hypoplasia | |
| 100 pontocerebellar hypoplasia type 1 | |
| 100 pontocerebellar hypoplasia, type 10 | |
| 100 pontocerebellar hypoplasia, type 1a | |
| 100 pontocerebellar hypoplasia, type 1b | |
| 100 pontocerebellar hypoplasia, type 1c | |
| 100 pontocerebellar hypoplasia type 2a | |
| 100 pontocerebellar hypoplasia, type 2a | |
| 100 pontocerebellar hypoplasia type 2 and type 4 | |
| 100 pontocerebellar hypoplasia type 2b | |
| 100 pontocerebellar hypoplasia, type 2b | |
| 100 pontocerebellar hypoplasia type 2c | |
| 100 pontocerebellar hypoplasia, type 2c (1 patient) | |
| 100 pontocerebellar hypoplasia, type 2d | |
| 100 pontocerebellar hypoplasia, type 2e | |
| 100 pontocerebellar hypoplasia, type 3 (1 family) | |
| 100 pontocerebellar hypoplasia type 4 | |
| 100 pontocerebellar hypoplasia, type 4 | |
| 100 pontocerebellar hypoplasia, type 5 | |
| 100 pontocerebellar hypoplasia, type 5 (1 patient) | |
| 100 pontocerebellar hypoplasia, type 6 | |
| 100 pontocerebellar hypoplasia, type 8 | |
| 100 pontocerebellar hypoplasia, type 9 | |
| 100 severe cerebellar hypoplasia | |
| 100 vldlr-associated cerebellar hypoplasia | |
| 101 tumoral calcinosis, familial, hyperphosphatemic | |
| 101 tumoral calcinosis, familial, normophosphatemic | |
| 101 tumoral calcinosis, hyperphosphatemic | |
| 101 tumoral calcinosis, hyperphosphatemic, familial | |
| 102 distal spinal muscular atrophy, autosomal recessive, 1 | |
| 102 distal spinal muscular atrophy, autosomal recessive 4 | |
| 102 scapuloperoneal spinal muscular atrophy | |
| 102 spinal and bulbar muscular atrophy, x-linked 1 | |
| 102 spinal muscular atrophy | |
| 102 spinal muscular atrophy, distal, autosomal recessive, 2 (1 family) | |
| 102 spinal muscular atrophy, distal, autosomal recessive, 4 | |
| 102 spinal muscular atrophy, distal, autosomal recessive, 5 | |
| 102 spinal muscular atrophy, distal, type va | |
| 102 spinal muscular atrophy, distal, x-linked 3 | |
| 102 spinal muscular atrophy, jokela type | |
| 102 spinal muscular atrophy, late-onset, finkel type | |
| 102 spinal muscular atrophy, modifier of | |
| 102 spinal muscular atrophy, type i | |
| 102 spinal muscular atrophy, type ii | |
| 102 spinal muscular atrophy, type iii | |
| 102 spinal muscular atrophy, type iv | |
| 102 spinal muscular atrophy with respiratory distress 1 | |
| 102 spinal muscular atrophy, x-linked 2 | |
| 102 spinal muscular atrophy, x-linked infantile | |
| 102 spinobulbar muscular atrophy (sbma | |
| 103 chondrodysplasia punctata 1, x-linked | |
| 103 chondrodysplasia punctata 1, x-linked recessive | |
| 103 chondrodysplasia punctata 2, x-linked dominant | |
| 103 chondrodysplasia punctata 2, x-linked dominant, atypical | |
| 103 chondrodysplasia punctata, x-linked dominant | |
| 103 rhizomelic chondrodysplasia punctata (mild) | |
| 103 rhizomelic chondrodysplasia punctata type 1 | |
| 103 rhizomelic chondrodysplasia punctata, type 1 | |
| 103 rhizomelic chondrodysplasia punctata, type 2 | |
| 103 rhizomelic chondrodysplasia punctata, type 3 | |
| 103 rhizomelic chondrodysplasia punctata, type 5 | |
| 104 autosomal dominant nocturnal frontal lobe epilepsy | |
| 104 epilepsy, nocturnal frontal lobe, 3 | |
| 104 epilepsy, nocturnal frontal lobe, 4 | |
| 104 epilepsy, nocturnal frontal lobe, 5 | |
| 104 epilepsy, nocturnal frontal lobe, type 1 | |
| 104 nocturnal frontal lobe epilepsy, autosomal dominant | |
| 105 peters plus syndrome | |
| 105 peters-plus syndrome | |
| 106 amelogenesis imperfecta, hypomaturation type, iia1 | |
| 106 amelogenesis imperfecta, hypomaturation type, iia2 | |
| 106 amelogenesis imperfecta, hypomaturation type, iia3 | |
| 106 amelogenesis imperfecta, hypomaturation type, iia4 | |
| 106 amelogenesis imperfecta, hypomaturation type, iia5 | |
| 106 amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 | |
| 106 amelogenesis imperfecta, type 1e | |
| 106 amelogenesis imperfecta, type 1e, with snow-capped teeth | |
| 106 amelogenesis imperfecta, type ia | |
| 106 amelogenesis imperfecta, type ib | |
| 106 amelogenesis imperfecta, type ic | |
| 106 amelogenesis imperfecta, type if (1 family) | |
| 106 amelogenesis imperfecta, type ig | |
| 106 amelogenesis imperfecta, type ih | |
| 106 amelogenesis imperfecta, type iii | |
| 106 amelogenesis imperfecta, type iii, localized | |
| 106 amelogenesis imperfecta, type iv | |
| 106 dentinogenesis imperfecta, shields type ii | |
| 106 dentinogenesis imperfecta, shields type iii | |
| 106 osteogenesis imperfecta | |
| 106 osteogenesis imperfecta, mild | |
| 106 osteogenesis imperfecta type 15 | |
| 106 osteogenesis imperfecta type 7 | |
| 106 osteogenesis imperfecta type i | |
| 106 osteogenesis imperfecta, type i | |
| 106 osteogenesis imperfecta, type ii | |
| 106 osteogenesis imperfecta, type iia | |
| 106 osteogenesis imperfecta, type iic | |
| 106 osteogenesis imperfecta type iii | |
| 106 osteogenesis imperfecta, type iii | |
| 106 osteogenesis imperfecta, type iii/iv | |
| 106 osteogenesis imperfecta, type ii, thin-bone type | |
| 106 osteogenesis imperfecta, type i, mild | |
| 106 osteogenesis imperfecta, type iv | |
| 106 osteogenesis imperfecta, type iv, with dentinogenesis imperfecta | |
| 106 osteogenesis imperfecta, type ix | |
| 106 osteogenesis imperfecta, type v | |
| 106 osteogenesis imperfecta, type vi | |
| 106 osteogenesis imperfecta, type vii | |
| 106 osteogenesis imperfecta, type viii | |
| 106 osteogenesis imperfecta, type x (1 patient) | |
| 106 osteogenesis imperfecta, type xi | |
| 106 osteogenesis imperfecta, type xii (1 patient) | |
| 106 osteogenesis imperfecta, type xiii | |
| 106 osteogenesis imperfecta, type xiv | |
| 106 osteogenesis imperfecta, type xv | |
| 107 hereditary pancreatitis | |
| 107 pancreatitis, hereditary | |
| 107 prss1-related hereditary pancreatitis | |
| 108 alzheimer disease, early-onset, susceptibility to | |
| 108 alzheimer disease, late-onset, susceptibility to | |
| 108 early-onset familial alzheimer disease | |
| 109 bartter syndrome antenatal type 1 | |
| 109 bartter syndrome, antenatal, type 1 | |
| 109 bartter syndrome, antenatal, type 2 | |
| 110 foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis | |
| 110 foveal hypoplasia 2 with optic nerve misrouting | |
| 110 foveal hypoplasia 2 with optic nerve misrouting and anterior segment dysgenesis | |
| 111 aicardi goutieres syndrome 1 | |
| 111 aicardi-goutieres syndrome 1 | |
| 111 aicardi-goutieres syndrome 1, autosomal dominant | |
| 111 aicardi-goutieres syndrome 2 | |
| 111 aicardi-goutieres syndrome 3 | |
| 111 aicardi goutieres syndrome 4 | |
| 111 aicardi-goutieres syndrome 4 | |
| 111 aicardi goutieres syndrome 5 | |
| 111 aicardi-goutieres syndrome 5 | |
| 111 aicardi-goutieres syndrome 6 | |
| 111 aicardi-goutieres syndrome 7 | |
| 112 atrial fibrillation | |
| 112 atrial fibrillation 15 (1 family) | |
| 112 atrial fibrillation 16 | |
| 112 atrial fibrillation, association with | |
| 112 atrial fibrillation, familial, 10 | |
| 112 atrial fibrillation, familial, 11 | |
| 112 atrial fibrillation, familial, 12 | |
| 112 atrial fibrillation, familial, 13 | |
| 112 atrial fibrillation, familial, 14 | |
| 112 atrial fibrillation, familial, 16 | |
| 112 atrial fibrillation, familial, 17 | |
| 112 atrial fibrillation, familial, 3 | |
| 112 atrial fibrillation, familial, 4 | |
| 112 atrial fibrillation, familial, 6 | |
| 112 atrial fibrillation, familial, 7 | |
| 112 atrial fibrillation, familial, 9 | |
| 112 atrial fibrillation, somatic | |
| 112 idiopathic ventricular fibrillation | |
| 112 paroxysmal atrial fibrillation | |
| 112 paroxysmal familial ventricular fibrillation | |
| 112 ventricular fibrillation | |
| 112 ventricular fibrillation, idiopathic | |
| 112 ventricular fibrillation, paroxysmal familial | |
| 112 ventricular fibrillation, paroxysmal familial, 2 | |
| 113 anterior segment anomalies | |
| 113 anterior segment anomalies and cataract | |
| 113 foveal hypoplasia 1 with anterior segment anomalies | |
| 113 foveal hypoplasia 1 with or without anterior segment anomalies | |
| 114 atypical rett syndrome | |
| 114 rett syndrome, atypical | |
| 115 autosomal recessive deafness 18b | |
| 115 autosomal recessive deafness 3 | |
| 115 autosomal recessive deafness 31 | |
| 115 deafness, autosomal recessive | |
| 115 deafness, autosomal recessive 101 (1 family) | |
| 115 deafness, autosomal recessive 102 (1 family) | |
| 115 deafness, autosomal recessive 103 (1 family) | |
| 115 deafness, autosomal recessive 104 (1 family) | |
| 115 deafness, autosomal recessive 12 | |
| 115 deafness, autosomal recessive 12, modifier of | |
| 115 deafness, autosomal recessive 15 | |
| 115 deafness, autosomal recessive 16 | |
| 115 deafness, autosomal recessive 18a | |
| 115 deafness, autosomal recessive 18b | |
| 115 deafness, autosomal recessive 1a | |
| 115 deafness, autosomal recessive 1b | |
| 115 deafness, autosomal recessive 2 | |
| 115 deafness, autosomal recessive 22 | |
| 115 deafness, autosomal recessive 23 | |
| 115 deafness, autosomal recessive 24 | |
| 115 deafness, autosomal recessive, 24 | |
| 115 deafness, autosomal recessive 25 | |
| 115 deafness, autosomal recessive 28 | |
| 115 deafness, autosomal recessive 29 | |
| 115 deafness, autosomal recessive 3 | |
| 115 deafness, autosomal recessive 30 | |
| 115 deafness, autosomal recessive 31 | |
| 115 deafness, autosomal recessive 35 | |
| 115 deafness, autosomal recessive 37 | |
| 115 deafness, autosomal recessive 39 | |
| 115 deafness, autosomal recessive 42 | |
| 115 deafness autosomal recessive 44 | |
| 115 deafness, autosomal recessive 44 (1 family) | |
| 115 deafness, autosomal recessive 48 | |
| 115 deafness, autosomal recessive 49 | |
| 115 deafness, autosomal recessive 53 | |
| 115 deafness, autosomal recessive 59 | |
| 115 deafness, autosomal recessive 6 | |
| 115 deafness, autosomal recessive 61 | |
| 115 deafness, autosomal recessive 61 (1 family) | |
| 115 deafness, autosomal recessive 63 | |
| 115 deafness, autosomal recessive 66 (1 family) | |
| 115 deafness, autosomal recessive 67 | |
| 115 deafness, autosomal recessive 7 | |
| 115 deafness, autosomal recessive 70 | |
| 115 deafness, autosomal recessive 74 | |
| 115 deafness, autosomal recessive 76 | |
| 115 deafness, autosomal recessive 77 | |
| 115 deafness, autosomal recessive 79 | |
| 115 deafness, autosomal recessive 8 | |
| 115 deafness, autosomal recessive 8/10 | |
| 115 deafness, autosomal recessive 84 | |
| 115 deafness, autosomal recessive 84a | |
| 115 deafness, autosomal recessive 84b | |
| 115 deafness autosomal recessive 86 | |
| 115 deafness, autosomal recessive 86 | |
| 115 deafness, autosomal recessive 88 (1 family) | |
| 115 deafness autosomal recessive 89 | |
| 115 deafness, autosomal recessive 89 | |
| 115 deafness, autosomal recessive 9 | |
| 115 deafness, autosomal recessive 91 (1 family) | |
| 115 deafness, autosomal recessive 93 | |
| 115 deafness, autosomal recessive 97 (1 family) | |
| 115 deafness, autosomal recessive 98 | |
| 115 deafness, neurosensory autosomal recessive 21 | |
| 115 deafness, neurosensory, autosomal recessive 49 | |
| 116 infantile nystagmus, x-linked | |
| 116 nystagmus 1, congenital, x-linked | |
| 116 nystagmus 6, congenital, x-linked | |
| 116 nystagmus, 6, congenital, x-linked | |
| 116 nystagmus, infantile periodic alternating, x-linked | |
| 117 immunodeficiency 26 with neurologic abnormalities | |
| 117 immunodeficiency 26 without neurologic abnormalities | |
| 118 essential tremor | |
| 118 essential tremor, susceptibility to | |
| 118 tremor, hereditary essential, 4 | |
| 119 combined hyperlipidemia, familial | |
| 119 hyperlipidemia, familial combined, susceptibility to | |
| 120 albinism, ocular, type i | |
| 120 ocular albinism type 1 | |
| 120 ocular albinism, type i | |
| 121 free sialic acid storage disorders | |
| 121 infantile sialic acid storage disorder | |
| 121 sialic acid storage disease, severe infantile type | |
| 121 sialic acid storage disorder, infantile | |
| 122 waardenburg syndrome type 1 | |
| 122 waardenburg syndrome, type 1 | |
| 122 waardenburg syndrome, type 2a | |
| 122 waardenburg syndrome, type 3 | |
| 122 waardenburg syndrome, type 4a | |
| 122 waardenburg syndrome type 4b | |
| 122 waardenburg syndrome, type 4b | |
| 122 waardenburg syndrome, type 4c | |
| 122 waardenburg syndrome, type iid | |
| 123 folate malabsorption, hereditary | |
| 123 hereditary folate malabsorption | |
| 124 noonan''s syndrome | |
| 124 noonan's syndrome | |
| 124 noonan syndrome | |
| 124 noonan syndrome 1 | |
| 124 noonan syndrome 10 | |
| 124 noonan syndrome 3 | |
| 124 noonan syndrome 4 | |
| 124 noonan syndrome 5 | |
| 124 noonan syndrome 6 | |
| 124 noonan syndrome 7 | |
| 124 noonan syndrome 8 | |
| 124 noonan syndrome 9 | |
| 125 age-related macular degeneration 12 | |
| 125 age-related macular degeneration 2 | |
| 125 age-related macular degeneration 6 | |
| 125 macular degeneration, age-related, 1 | |
| 125 macular degeneration, age-related, 10, susceptibility to | |
| 125 macular degeneration, age-related, 11 | |
| 125 macular degeneration, age-related, 12, susceptibility to | |
| 125 macular degeneration, age-related, 13, susceptibility to | |
| 125 macular degeneration, age-related, 14, reduced risk of | |
| 125 macular degeneration, age-related, 15, susceptibility to | |
| 125 macular degeneration, age-related, 1, susceptibility to | |
| 125 macular degeneration, age-related, 2, susceptibility to | |
| 125 macular degeneration, age-related, 3 | |
| 125 macular degeneration, age-related, 4, susceptibility to | |
| 125 macular degeneration, age-related, 5, susceptibility to | |
| 125 macular degeneration, age-related, 6 (1 patient) | |
| 125 macular degeneration, age-related, 7, susceptibility to | |
| 125 macular degeneration, age-related, 8, susceptibility to | |
| 125 macular degeneration, age-related, 9, susceptibility to | |
| 125 macular degeneration, age-related, neovascular type, susceptibility to | |
| 125 macular degeneration, age-related, reduced risk of | |
| 125 neuropathy, hereditary, with or without age-related macular degeneration | |
| 126 ataxia telangiectasia | |
| 126 ataxia-telangiectasia | |
| 126 ataxia-telangiectasia, complementation group a | |
| 126 ataxia-telangiectasia, complementation group d | |
| 126 ataxia-telangiectasia, complementation group e | |
| 126 ataxia-telangiectasia, fresno variant | |
| 126 ataxia-telangiectasia-like disorder | |
| 126 ataxia-telangiectasia-like disorder 1 | |
| 126 ataxia-telangiectasia-like disorder 2 (1 family) | |
| 126 ataxia-telangiectasia syndrome | |
| 126 ataxia-telangiectasia variant | |
| 126 ataxia-telangiectasia without immunodeficiency | |
| 127 insulin resistance | |
| 127 insulin resistance, digenic | |
| 127 insulin resistance, severe, digenic | |
| 127 insulin resistance, susceptibility to | |
| 127 insulin resistance syndrome, type a | |
| 128 chronic granulomatous disease | |
| 128 chronic granulomatous disease, x-linked | |
| 128 granulomatous disease, chronic, x-linked | |
| 128 granulomatous disease, chronic, x-linked, somatic mosaic | |
| 128 granulomatous disease, chronic, x-linked, variant | |
| 128 x-linked chronic granulomatous disease | |
| 129 leukoencephalopathy, cystic, without megalencephaly | |
| 129 megalencephalic leukoencephalopathy with subcortical cysts | |
| 129 megalencephalic leukoencephalopathy with subcortical cysts 1 | |
| 129 megalencephalic leukoencephalopathy with subcortical cysts 2a | |
| 129 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with mental retardation | |
| 129 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation | |
| 130 3-@hydroxyisobutyryl-coa hydrolase deficiency | |
| 130 3-hydroxyisobutyryl-coa hydrolase deficiency | |
| 131 hoyeraal hreidarsson syndrome | |
| 131 hoyeraal-hreidarsson syndrome | |
| 132 early infantile epileptic encephalopathy | |
| 132 early infantile epileptic encephalopathy 10 | |
| 132 early infantile epileptic encephalopathy 11 | |
| 132 early infantile epileptic encephalopathy 13 | |
| 132 early infantile epileptic encephalopathy 14 | |
| 132 early infantile epileptic encephalopathy 16 | |
| 132 early infantile epileptic encephalopathy 2 | |
| 132 early infantile epileptic encephalopathy 4 | |
| 132 early infantile epileptic encephalopathy 7 | |
| 132 early infantile epileptic encephalopathy 9 | |
| 132 early onset epileptic encephalopathy | |
| 132 epileptic encephalopathy, childhood-onset | |
| 132 epileptic encephalopathy, early infanitle, 1 | |
| 132 epileptic encephalopathy, early infantile, 1 | |
| 132 epileptic encephalopathy, early infantile, 10 | |
| 132 epileptic encephalopathy, early infantile, 11 | |
| 132 epileptic encephalopathy, early infantile, 11, mild | |
| 132 epileptic encephalopathy, early infantile, 12 | |
| 132 epileptic encephalopathy, early infantile, 13 | |
| 132 epileptic encephalopathy, early infantile, 14 | |
| 132 epileptic encephalopathy, early infantile, 15 | |
| 132 epileptic encephalopathy, early infantile, 16 | |
| 132 epileptic encephalopathy, early infantile, 17 | |
| 132 epileptic encephalopathy, early infantile, 18 | |
| 132 epileptic encephalopathy, early infantile, 19 | |
| 132 epileptic encephalopathy, early infantile, 2 | |
| 132 epileptic encephalopathy, early infantile, 21 (1 family) | |
| 132 epileptic encephalopathy, early infantile, 22 | |
| 132 epileptic encephalopathy, early infantile, 23 | |
| 132 epileptic encephalopathy, early infantile, 24 | |
| 132 epileptic encephalopathy, early infantile, 25 | |
| 132 epileptic encephalopathy, early infantile, 26 | |
| 132 epileptic encephalopathy, early infantile, 27 | |
| 132 epileptic encephalopathy, early infantile, 27, variant | |
| 132 epileptic encephalopathy, early infantile, 28 | |
| 132 epileptic encephalopathy, early infantile, 29 | |
| 132 epileptic encephalopathy, early infantile, 3 | |
| 132 epileptic encephalopathy, early infantile, 30 | |
| 132 epileptic encephalopathy, early infantile, 31 | |
| 132 epileptic encephalopathy, early infantile, 32 | |
| 132 epileptic encephalopathy, early infantile, 33 | |
| 132 epileptic encephalopathy, early infantile, 34 | |
| 132 epileptic encephalopathy, early infantile, 35 | |
| 132 epileptic encephalopathy, early infantile, 4 | |
| 132 epileptic encephalopathy, early infantile, 5 | |
| 132 epileptic encephalopathy, early infantile, 6 | |
| 132 epileptic encephalopathy, early infantile, 7 | |
| 132 epileptic encephalopathy, early infantile, 8 | |
| 132 epileptic encephalopathy, early infantile, 9 | |
| 133 li-fraumeni-like syndrome | |
| 133 li fraumeni syndrome | |
| 133 li-fraumeni syndrome | |
| 133 li-fraumeni syndrome 1 | |
| 133 li-fraumeni syndrome 2 | |
| 134 haemorrhagic telangiectasia 1 | |
| 134 haemorrhagic telangiectasia 2 | |
| 134 hereditary hemorrhagic telangiectasia 1 | |
| 134 hereditary hemorrhagic telangiectasia type 2 | |
| 134 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | |
| 134 osler hemorrhagic telangiectasia syndrome | |
| 134 pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related | |
| 134 pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia | |
| 134 telangiectasia, hereditary hemorrhagic, type 2 | |
| 134 telangiectasia, hereditary hemorrhagic, type 5 | |
| 134 telangiectasia, hereditary hemorrhagic, type ii | |
| 135 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy | |
| 135 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy | |
| 135 cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | |
| 135 cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | |
| 136 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction | |
| 136 cardiomyopathy, dilated, 1c, with left ventricular noncompaction | |
| 136 cardiomyopathy, familial hypertrophic, 23, with or without left ventricular noncompaction | |
| 136 cardiomyopathy, left ventricular noncompaction | |
| 136 cardiomyopathy, non-compaction, left ventricular | |
| 136 left ventricular noncompaction 1 | |
| 136 left ventricular noncompaction 10 | |
| 136 left ventricular noncompaction 3 | |
| 136 left ventricular noncompaction 4 | |
| 136 left ventricular noncompaction 5 | |
| 136 left ventricular noncompaction 7 | |
| 136 left ventricular noncompaction 8 | |
| 136 left ventricular noncompaction 9 | |
| 136 left ventricular noncompaction cardiomyopathy | |
| 137 abdominal aortic aneurysm | |
| 137 aortic aneurysm | |
| 137 aortic aneurysm, familial thoracic 4 | |
| 137 aortic aneurysm, familial thoracic 6 | |
| 137 aortic aneurysm, familial thoracic 7 | |
| 137 aortic aneurysm, familial thoracic 8 | |
| 137 aortic aneurysm, familial thoracic 9 | |
| 137 aortic aneurysm, thoracic | |
| 137 familial thoracic aortic aneurysm | |
| 137 loeys-dietz aortic aneurysm syndrome | |
| 137 sporadic abdominal aortic aneurysm | |
| 137 thoracic aortic aneurysms and aortic dissections | |
| 137 thoracic aortic aneurysms and dissections | |
| 138 amyotrophy, hereditary neuralgic | |
| 138 hereditary neuralgic amyotrophy | |
| 139 anemia sideroblastic and spinocerebellar ataxia | |
| 139 anemia, sideroblastic, and spinocerebellar ataxia | |
| 140 albinism, oculocutaneous, type ia | |
| 140 albinism, oculocutaneous, type ib | |
| 140 albinism, oculocutaneous, type ii | |
| 140 albinism, oculocutaneous, type iii | |
| 140 albinism, oculocutaneous, type ii, modifier of | |
| 140 albinism, oculocutaneous, type iv | |
| 140 albinism, oculocutaneous, type vi | |
| 140 albinism, oculocutaneous, type vii | |
| 140 brown oculocutaneous albinism | |
| 140 oculocutaneous albinism type 1 | |
| 140 oculocutaneous albinism type 1a | |
| 140 oculocutaneous albinism type 1b | |
| 140 oculocutaneous albinism type 3 | |
| 140 oculocutaneous albinism type 4 | |
| 140 oculocutaneous albinism, type ii, modifier of | |
| 140 oculocutaneous albinism, type iv | |
| 141 familial male-limited precocious puberty | |
| 141 precocious puberty, male-limited | |
| 142 epilepsy, progressive myoclonic, 10 (1 family) | |
| 142 epilepsy, progressive myoclonic 1a (unverricht and lundborg) | |
| 142 epilepsy, progressive myoclonic, 1b | |
| 142 epilepsy, progressive myoclonic, 2a | |
| 142 epilepsy, progressive myoclonic, 2b | |
| 142 epilepsy, progressive myoclonic, 4, with or without renal failure | |
| 142 epilepsy, progressive myoclonic, 4, without renal failure | |
| 142 epilepsy, progressive myoclonic, 4, with renal failure | |
| 142 epilepsy, progressive myoclonic 5 | |
| 142 epilepsy, progressive myoclonic, 5 | |
| 142 epilepsy, progressive myoclonic 6 | |
| 142 epilepsy, progressive myoclonic, 6 | |
| 142 epilepsy, progressive myoclonic 7 | |
| 142 epilepsy, progressive myoclonic, 8 (1 family) | |
| 142 epilepsy, progressive myoclonic, 9 (1 family) | |
| 142 myoclonic epilepsy of unverricht and lundborg | |
| 142 prickle1-related progressive myoclonus epilepsy with ataxia | |
| 142 progressive myoclonus epilepsy with ataxia | |
| 142 spinal muscular atrophy with progressive myoclonic epilepsy | |
| 143 lipodystrophy | |
| 143 lipodystrophy, familial partial, 2 | |
| 143 lipodystrophy, familial partial, type 2 | |
| 143 lipodystrophy, familial partial, type 3 | |
| 143 lipodystrophy, familial partial, type 4 | |
| 143 lipodystrophy, familial partial, type 5 (1 family) | |
| 143 lipodystrophy, familial partial, type 6 | |
| 143 lipodystrophy, partial, acquired, susceptibility to | |
| 143 partial lipodystrophy, dunnigan | |
| 144 wiskott aldrich syndrome | |
| 144 wiskott-aldrich syndrome | |
| 144 wiskott-aldrich syndrome 2 (1 patient) | |
| 144 wiskott-aldrich syndrome, attenuated | |
| 144 wiskott-aldrich syndrome, somatic | |
| 145 juvenile myelomonocytic leukemia | |
| 145 juvenile myelomonocytic leukemia, somatic | |
| 145 leukemia, juvenile myelomonocytic | |
| 145 leukemia, juvenile myelomonocytic, somatic | |
| 146 holoprosencephaly | |
| 146 holoprosencephaly 11 | |
| 146 holoprosencephaly 2 | |
| 146 holoprosencephaly 3 | |
| 146 holoprosencephaly 4 | |
| 146 holoprosencephaly 5 | |
| 146 holoprosencephaly-5 | |
| 146 holoprosencephaly 7 | |
| 146 holoprosencephaly 9 | |
| 146 holoprosencephaly sequence | |
| 147 congenital long qt syndrome | |
| 147 long qt syndrome | |
| 147 long qt syndrome 1 | |
| 147 long qt syndrome 10 | |
| 147 long qt syndrome 11 | |
| 147 long qt syndrome 11 (1 family) | |
| 147 long qt syndrome 12 | |
| 147 long qt syndrome 13 | |
| 147 long qt syndrome 14 | |
| 147 long qt syndrome 15 | |
| 147 long qt syndrome 2 | |
| 147 long qt syndrome 3 | |
| 147 long qt syndrome 4 | |
| 147 long qt syndrome 5 | |
| 147 long qt syndrome 6 | |
| 147 long qt syndrome 9 | |
| 148 familial hemophagocytic lymphohistiocytosis 4 | |
| 148 hemophagocytic lymphohistiocytosis, familial, 2 | |
| 148 hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to | |
| 148 hemophagocytic lymphohistiocytosis, familial, 3 | |
| 148 hemophagocytic lymphohistiocytosis, familial, 4 | |
| 148 hemophagocytic lymphohistiocytosis, familial 5 | |
| 149 cockayne syndrome a | |
| 149 cockayne syndrome b | |
| 149 cockayne syndrome, type a | |
| 149 cockayne syndrome, type b | |
| 150 autosomal recessive congenital ichthyosis 2 | |
| 150 ichthyosis, congenital, autosomal recessive 1 | |
| 150 ichthyosis, congenital, autosomal recessive 10 | |
| 150 ichthyosis, congenital, autosomal recessive 11 | |
| 150 ichthyosis, congenital, autosomal recessive 2 | |
| 150 ichthyosis, congenital, autosomal recessive 3 | |
| 150 ichthyosis, congenital, autosomal recessive 4a | |
| 150 ichthyosis, congenital, autosomal recessive 4b | |
| 150 ichthyosis, congenital, autosomal recessive 5 | |
| 150 ichthyosis, congenital, autosomal recessive 6 | |
| 150 ichthyosis, congenital, autosomal recessive 8 | |
| 150 ichthyosis, congenital, autosomal recessive 9 | |
| 151 common variable immunodeficiency | |
| 151 common variable immunodeficiency 2 | |
| 151 immunodeficiency, common variable, 1 | |
| 151 immunodeficiency, common variable, 10 | |
| 151 immunodeficiency, common variable, 11 (1 family) | |
| 151 immunodeficiency, common variable, 12 | |
| 151 immunodeficiency, common variable, 2 | |
| 151 immunodeficiency, common variable, 3 | |
| 151 immunodeficiency, common variable, 4 | |
| 151 immunodeficiency, common variable, 5 | |
| 151 immunodeficiency, common variable, 6 (1 patient) | |
| 151 immunodeficiency, common variable, 7 | |
| 151 immunodeficiency, common variable, 8, with autoimmunity | |
| 152 alpha-thalassemia/mental retardation syndrome | |
| 152 alpha-thalassemia/mental retardation syndrome, x-linked | |
| 152 fragile x mental retardation syndrome | |
| 152 lubs x-linked mental retardation syndrome | |
| 152 mental retardation, fra12a type | |
| 152 mental retardation-hypotonic facies syndrome, x-linked | |
| 152 mental retardation-hypotonic facies syndrome x-linked, 1 | |
| 152 mental retardation, syndromic 14, x-linked | |
| 152 mental retardation, syndromic, claes-jensen type, x-linked | |
| 152 mental retardation, x-linked | |
| 152 mental retardation, x-linked 1 | |
| 152 mental retardation, x-linked 100 (1 family) | |
| 152 mental retardation, x-linked 101 (1 family) | |
| 152 mental retardation, x-linked 102 | |
| 152 mental retardation, x-linked 12 | |
| 152 mental retardation, x-linked 18 | |
| 152 mental retardation, x-linked 19 | |
| 152 mental retardation, x-linked 21 | |
| 152 mental retardation, x-linked 3 | |
| 152 mental retardation, x-linked 30 | |
| 152 mental retardation, x-linked 41 | |
| 152 mental retardation, x-linked 44 | |
| 152 mental retardation, x-linked 45 (1 family) | |
| 152 mental retardation, x-linked 46 | |
| 152 mental retardation, x-linked 58 | |
| 152 mental retardation, x-linked 63 | |
| 152 mental retardation, x-linked 68 | |
| 152 mental retardation, x-linked 72 | |
| 152 mental retardation, x-linked 9 | |
| 152 mental retardation, x-linked 90 | |
| 152 mental retardation, x-linked 93 | |
| 152 mental retardation, x-linked 94 | |
| 152 mental retardation, x-linked 96 | |
| 152 mental retardation, x-linked 97 | |
| 152 mental retardation, x-linked 98 | |
| 152 mental retardation, x-linked 99 | |
| 152 mental retardation, x-linked, nonspecific | |
| 152 mental retardation, x-linked, syndromic 10 (1 family) | |
| 152 mental retardation, x-linked, syndromic 13 | |
| 152 mental retardation, x-linked, syndromic 14 | |
| 152 mental retardation, x-linked, syndromic 16 | |
| 152 mental retardation, x-linked, syndromic 32 (1 family) | |
| 152 mental retardation, x-linked, syndromic, cabezas type | |
| 152 mental retardation, x-linked syndromic, christianson type | |
| 152 mental retardation, x-linked, syndromic, christianson type | |
| 152 mental retardation, x-linked, syndromic, claes-jensen type | |
| 152 mental retardation, x-linked syndromic, fried type | |
| 152 mental retardation, x-linked, syndromic, hedera type (1 family) | |
| 152 mental retardation, x-linked, syndromic, nascimento type | |
| 152 mental retardation, x-linked, syndromic, raymond type | |
| 152 mental retardation, x-linked, syndromic, snyder-robinson type | |
| 152 mental retardation, x-linked, syndromic, turner type | |
| 152 mental retardation, x-linked, syndromic, wu type | |
| 152 mental retardation, x-linked, with nystagmus | |
| 152 mental retardation, x-linked, with or without seizures, arx-related | |
| 152 mental retardation, x-linked, without nystagmus | |
| 152 siderius x-linked mental retardation syndrome | |
| 152 stocco dos santos x-linked mental retardation syndrome (1 family) | |
| 152 wilson-turner x-linked mental retardation syndrome | |
| 152 x-linked mental retardation with marfanoid habitus syndrome | |
| 153 scianna blood group system, sc:-1,2 | |
| 153 scianna blood group system, sc:-1,-2 | |
| 154 mitochondrial dna depletion syndrome 11 | |
| 154 mitochondrial dna depletion syndrome 12 (cardiomyopathic type) | |
| 154 mitochondrial dna depletion syndrome 13 (encephalomyopathic type) | |
| 154 mitochondrial dna depletion syndrome 1 (mngie type) | |
| 154 mitochondrial dna depletion syndrome 2 (myopathic type) | |
| 154 mitochondrial dna-depletion syndrome 3, hepatocerebral | |
| 154 mitochondrial dna depletion syndrome 3 (hepatocerebral type) | |
| 154 mitochondrial dna depletion syndrome 4a (alpers type) | |
| 154 mitochondrial dna depletion syndrome 4b (mngie type) | |
| 154 mitochondrial dna depletion syndrome 4b, mngie type | |
| 154 mitochondrial dna depletion syndrome 5 (encephalomyopathic type with methylmalonic aciduria) | |
| 154 mitochondrial dna depletion syndrome 5 (encephalomyopathic type without methylmalonic aciduria) | |
| 154 mitochondrial dna depletion syndrome 6 (hepatocerebral type) | |
| 154 mitochondrial dna depletion syndrome 7 (hepatocerebral type) | |
| 154 mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy) | |
| 154 mitochondrial dna depletion syndrome 8b (mngie type) | |
| 154 mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | |
| 154 mitochondrial dna depletion syndrome, encephalomyopathic form, with renal tubulopathy | |
| 154 mpv17- related hepatocerebral mitochondrial dna depletion syndrome | |
| 154 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria | |
| 154 tk2-related mitochondrial dna depletion syndrome, myopathic form | |
| 155 cardiomyopathy dilated with woolly hair and keratoderma | |
| 155 cardiomyopathy, dilated, with woolly hair and keratoderma | |
| 155 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | |
| 155 dilated cardiomyopathy, woolly hair, keratoderma | |
| 156 ischemic stroke, susceptibility to | |
| 156 stroke, ischemic, susceptibility to | |
| 157 occult macular dystrophy | |
| 157 occult macular dystrophy, susceptibility to | |
| 158 porphyria variegata | |
| 158 porphyria variegata, susceptibility to | |
| 158 variegate porphyria | |
| 158 variegate porphyria, homozygous | |
| 159 sandhoff disease, infantile | |
| 159 sandhoff disease, infantile type | |
| 160 goiter, multinodular 1, with or without sertoli-leydig cell tumors | |
| 160 goiter, multinodular 1, without sertoli-leydig cell tumors | |
| 161 cholestasis, intrahepatic, of pregnancy, 1 | |
| 161 cholestasis, intrahepatic, of pregnancy, 3 | |
| 161 cholestasis, progressive familial intrahepatic 1 | |
| 161 cholestasis, progressive familial intrahepatic 2 | |
| 161 cholestasis, progressive familial intrahepatic 3 | |
| 161 cholestasis, progressive familial intrahepatic, 4 | |
| 161 progressive familial intrahepatic cholestasis 3 | |
| 161 progressive familial intrahepatic cholestasis 4 | |
| 161 progressive intrahepatic cholestasis | |
| 162 familial febrile seizures 8 | |
| 162 febrile seizures, familial, 11 | |
| 162 febrile seizures, familial, 3a | |
| 162 febrile seizures, familial, 3a, susceptibility to | |
| 162 febrile seizures, familial, 3b | |
| 162 febrile seizures, familial, 4 | |
| 162 febrile seizures, familial, 8 | |
| 163 boucher neuhauser syndrome | |
| 163 boucher-neuhauser syndrome | |
| 164 ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution | |
| 164 ichthyosis, congenital, autosomal recessive 1, with or without bathing suit distribution | |
| 165 pachyonychia congenita 1 | |
| 165 pachyonychia congenita 2 | |
| 165 pachyonychia congenita 3 | |
| 165 pachyonychia congenita 4 | |
| 165 pachyonychia congenita, late onset | |
| 165 pachyonychia congenita, type 1 | |
| 166 multiple endocrine neoplasia | |
| 166 multiple endocrine neoplasia 2 | |
| 166 multiple endocrine neoplasia 2a | |
| 166 multiple endocrine neoplasia iia | |
| 166 multiple endocrine neoplasia type 1 | |
| 166 multiple endocrine neoplasia, type 1 | |
| 166 multiple endocrine neoplasia type 2 | |
| 166 multiple endocrine neoplasia, type 2 | |
| 166 multiple endocrine neoplasia type 2a | |
| 166 multiple endocrine neoplasia, type 2a | |
| 166 multiple endocrine neoplasia type 2b | |
| 166 multiple endocrine neoplasia, type i | |
| 166 multiple endocrine neoplasia, type iia | |
| 166 multiple endocrine neoplasia, type iia, with hirschsprung disease | |
| 166 multiple endocrine neoplasia, type iia, without pheochromocytoma | |
| 166 multiple endocrine neoplasia, type iib | |
| 166 multiple endocrine neoplasia, type iv | |
| 167 congenital stationary night blindness, type 1b | |
| 167 congenital stationary night blindness, type 1c | |
| 167 congenital stationary night blindness, type 2a | |
| 167 congenital stationary night blindness, x-linked | |
| 167 night blindness, congenital stationary, autosomal dominant 1 | |
| 167 night blindness, congenital stationary, autosomal dominant 2 | |
| 167 night blindness, congenital stationary, autosomal dominant 3 | |
| 167 night blindness, congenital stationary, type 1a | |
| 167 night blindness, congenital stationary, type 1b | |
| 167 night blindness, congenital stationary, type 1c | |
| 167 night blindness, congenital stationary, type 1d | |
| 167 night blindness, congenital stationary, type 1e | |
| 167 night blindness, congenital stationary, type 1f | |
| 167 night blindness, congenital stationary, type 1g (1 family) | |
| 167 night blindness, congenital stationary, type 2a | |
| 167 night blindness, congenital stationary, type 2a, severe | |
| 168 encephalopathy, progressive, with lipodystrophy | |
| 168 encephalopathy, progressive, with or without lipodystrophy | |
| 169 adult polyglucosan body disease | |
| 169 adult polyglucosan body neuropathy | |
| 169 polyglucosan body myopathy 1 with immunodeficiency | |
| 169 polyglucosan body myopathy 1 without immunodeficiency | |
| 169 polyglucosan body myopathy 2 | |
| 169 polyglucosan body myopathy without immunodeficiency | |
| 170 3-@hydroxyacyl-coa dehydrogenase deficiency | |
| 170 acyl-coa dehydrogenase family, member 9, deficiency of | |
| 170 acyl-coa dehydrogenase, medium chain, deficiency of | |
| 170 deficiency of 3-hydroxyacyl-coa dehydrogenase | |
| 170 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency | |
| 170 medium-chain acyl-coenzyme a dehydrogenase deficiency | |
| 170 very long chain acyl-coa dehydrogenase deficiency | |
| 170 very long chain acyl-coenzyme a dehydrogenase deficiency | |
| 171 congenital stromal corneal dystrophy | |
| 171 corneal dystrophy, avellino type | |
| 171 corneal dystrophy, congenital stromal | |
| 171 corneal dystrophy, schnyder | |
| 171 fleck corneal dystrophy | |
| 171 meesmann corneal dystrophy | |
| 172 multiple cutaneous and mucosal venous malformations | |
| 172 venous malformations, multiple cutaneous and mucosal | |
| 173 46,xx sex reversal 2 | |
| 173 46,xy sex reversal 1 | |
| 173 46,xy sex reversal 10 | |
| 173 46,xy sex reversal 2 | |
| 173 46,xy sex reversal 3 | |
| 173 46,xy sex reversal 5 | |
| 173 46,xy sex reversal 6 | |
| 173 46,xy sex reversal 8 | |
| 173 46,xy sex reversal 8, modifier of | |
| 173 46,xy sex reversal 9 | |
| 173 46,xy sex reversal, type 3 | |
| 173 46,xy sex reversal, type 5 | |
| 173 46,xy sex reversal, type 6 | |
| 174 prostate cancer | |
| 174 prostate cancer, hereditary, 1 | |
| 174 prostate cancer, hereditary, 12 | |
| 174 prostate cancer, hereditary, 13 | |
| 174 prostate cancer, hereditary, 2 | |
| 174 prostate cancer, progression and metastasis of, somatic | |
| 174 prostate cancer, somatic | |
| 174 prostate cancer susceptibility | |
| 174 prostate cancer, susceptibility to | |
| 174 prostate cancer, susceptibility to, in african americans, somatic | |
| 175 malignant melanoma of skin | |
| 175 malignant melanoma, somatic | |
| 175 melanoma, malignant, somatic | |
| 176 tyrosinemia type i | |
| 176 tyrosinemia, type i | |
| 176 tyrosinemia, type ii | |
| 176 tyrosinemia, type iii | |
| 177 hypertension, essential | |
| 177 hypertension, essential, susceptibility to | |
| 177 hypertension, salt-sensitive essential, susceptibility to | |
| 178 mild obesity | |
| 178 obesity | |
| 178 obesity (bmiq10), susceptibility to | |
| 178 obesity (bmiq12), susceptibility to | |
| 178 obesity (bmiq14), susceptibility to | |
| 178 obesity (bmiq17), susceptibility to | |
| 178 obesity (bmiq18), susceptibility to | |
| 178 obesity (bmiq4), susceptibility to | |
| 178 obesity (bmiq9), susceptibility to | |
| 178 obesity, susceptibility to | |
| 178 obesity, susceptibility to (1 family) | |
| 179 congenital myasthenic syndrome, 4b, fast-channel | |
| 179 fast-channel congenital myasthenia syndrome | |
| 179 myasthenic syndrome, congenital, 1a, slow-channel | |
| 179 myasthenic syndrome, congenital, 1b, fast-channel | |
| 179 myasthenic syndrome, congenital, 2a, slow-channel | |
| 179 myasthenic syndrome, congenital, 3a, slow-channel (1 patient) | |
| 179 myasthenic syndrome, congenital, 3b, fast-channel | |
| 179 myasthenic syndrome, congenital, 4a, slow-channel | |
| 179 myasthenic syndrome, congenital, 4a, slow-channel, autosomal recessive | |
| 179 myasthenic syndrome, congenital, 4b, fast-channel | |
| 179 myasthenic syndrome, congenital, fast-channel | |
| 179 slow-channel congenital myasthenia syndrome | |
| 180 familial periodic paralysis | |
| 180 hyperkalemic periodic paralysis | |
| 180 hyperkalemic periodic paralysis type 1 | |
| 180 hypokalaemic periodic paralysis | |
| 180 hypokalemic periodic paralysis | |
| 180 hypokalemic periodic paralysis 1 | |
| 180 hypokalemic periodic paralysis, type 1 | |
| 180 hypokalemic periodic paralysis, type 2 | |
| 180 paramyotonia congenita/hyperkalemic periodic paralysis | |
| 180 periodic paralysis | |
| 180 thyrotoxic periodic paralysis | |
| 180 thyrotoxic periodic paralysis, susceptibility to, 1 | |
| 180 thyrotoxic periodic paralysis, susceptibility to, 2 | |
| 181 atrial septal defect | |
| 181 atrial septal defect 2 | |
| 181 atrial septal defect 3 | |
| 181 atrial septal defect 4 | |
| 181 atrial septal defect 5 | |
| 181 atrial septal defect 6 | |
| 181 atrial septal defect 7 with atrioventricular conduction defects | |
| 181 atrial septal defect 7 with or without atrioventricular conduction defects | |
| 181 atrial septal defect 7 with or without atrioventricular conduction defects, somatic | |
| 181 atrial septal defect 7, with or without av conduction defects | |
| 181 atrial septal defect 7 without atrioventricular conduction defects | |
| 181 atrial septal defect 8 | |
| 181 atrial septal defect 9 | |
| 181 atrial septal defect with atrioventricular block | |
| 181 atrioventricular block | |
| 181 atrioventricular septal defect | |
| 181 atrioventricular septal defect 3 | |
| 181 atrioventricular septal defect 4 | |
| 181 atrioventricular septal defect 5 | |
| 181 atrioventricular septal defect, partial, with heterotaxy syndrome | |
| 181 atrioventricular septal defect, somatic | |
| 181 atrioventricular septal defect, susceptibility to, 2 | |
| 181 pulmonary atresia with ventricular septal defect | |
| 181 small atrial septal defect | |
| 181 ventral septal defect | |
| 181 ventricular septal defect | |
| 181 ventricular septal defect 1 | |
| 181 ventricular septal defect 2 | |
| 181 ventricular septal defect 3 | |
| 182 epiphyseal dysplasia, multiple, 1 | |
| 182 epiphyseal dysplasia, multiple, 1, mild | |
| 182 epiphyseal dysplasia, multiple, 1, severe | |
| 182 epiphyseal dysplasia, multiple, 2 | |
| 182 epiphyseal dysplasia, multiple, 3 | |
| 182 epiphyseal dysplasia, multiple, 3, with myopathy | |
| 182 epiphyseal dysplasia, multiple, 4 | |
| 182 epiphyseal dysplasia, multiple, 5 | |
| 182 epiphyseal dysplasia, multiple, 6 (1 family) | |
| 182 multiple epiphyseal dysplasia 4 | |
| 182 multiple epiphyseal dysplasia, dominant | |
| 183 aniridia | |
| 183 congenital aniridia | |
| 184 myocardial infarction 1 | |
| 184 myocardial infarction, association with | |
| 184 myocardial infarction, decreased susceptibility to | |
| 184 myocardial infarction, protection against | |
| 184 myocardial infarction, susceptibility to | |
| 184 myocardial infarction, susceptibility to, 1 | |
| 185 exudative vitreoretinopathy 1 | |
| 185 exudative vitreoretinopathy 2, x-linked | |
| 185 exudative vitreoretinopathy 4, autosomal dominant | |
| 185 exudative vitreoretinopathy 4, autosomal recessive | |
| 185 exudative vitreoretinopathy 4, digenic | |
| 185 exudative vitreoretinopathy 5 | |
| 185 exudative vitreoretinopathy 6 (1 family) | |
| 185 exudative vitreoretinopathy, digenic | |
| 185 exudative vitreoretinopathy, x-linked | |
| 185 familial exudative vitreoretinopathy, x-linked | |
| 186 cardiomyopathy, familial restrictive, 1 | |
| 186 cardiomyopathy, familial restrictive, 3 | |
| 186 cardiomyopathy, familial, restrictive, 3 | |
| 186 cardiomyopathy, familial restrictive, 4 | |
| 186 cardiomyopathy, restrictive | |
| 186 familial restrictive cardiomyopathy 1 | |
| 186 restrictive cardiomyopathy | |
| 187 episodic ataxia type 1 | |
| 187 episodic ataxia, type 1 | |
| 187 episodic ataxia type 2 | |
| 187 episodic ataxia, type 2 | |
| 187 episodic ataxia, type 2, and epilepsy | |
| 187 episodic ataxia, type 5 | |
| 187 episodic ataxia, type 6 | |
| 188 combined pituitary hormone deficiency | |
| 188 pituitary hormone deficiency, combined 1 | |
| 188 pituitary hormone deficiency, combined, 1 | |
| 188 pituitary hormone deficiency, combined 2 | |
| 188 pituitary hormone deficiency, combined, 2 | |
| 188 pituitary hormone deficiency, combined, 3 | |
| 188 pituitary hormone deficiency, combined, 4 | |
| 188 pituitary hormone deficiency, combined, 5 | |
| 188 pituitary hormone deficiency, combined, 6 | |
| 189 cutaneous malignant melanoma 1 | |
| 189 melanoma, cutaneous malignant, susceptibility to, 10 | |
| 189 melanoma, cutaneous malignant, susceptibility to , 2 | |
| 189 melanoma, cutaneous malignant, susceptibility to, 2 | |
| 189 melanoma, cutaneous malignant, susceptibility to, 3 | |
| 189 melanoma, cutaneous malignant, susceptibility to, 5 | |
| 189 melanoma, cutaneous malignant, susceptibility to, 6 | |
| 189 melanoma, cutaneous malignant, susceptibility to, 8 | |
| 189 melanoma, cutaneous malignant, susceptibility to, 9 | |
| 190 nephrotic syndrome, type 1 | |
| 190 nephrotic syndrome, type 10 | |
| 190 nephrotic syndrome, type 2 | |
| 190 nephrotic syndrome, type 2, susceptibility to | |
| 190 nephrotic syndrome, type 3 | |
| 190 nephrotic syndrome type 4 | |
| 190 nephrotic syndrome, type 4 | |
| 190 nephrotic syndrome, type 6 | |
| 190 nephrotic syndrome, type 7 | |
| 190 nephrotic syndrome, type 8 | |
| 190 nephrotic syndrome, type 9 | |
| 191 dysautonomia, familial | |
| 191 familial dysautonomia | |
| 192 autosomal recessive centronuclear myopathy | |
| 192 centronuclear myopathy 5 | |
| 192 myopathy, centronuclear | |
| 192 myopathy, centronuclear, 1 | |
| 192 myopathy, centronuclear, 3 | |
| 192 myopathy, centronuclear 4 | |
| 192 myopathy, centronuclear, autosomal dominant, modifier of | |
| 192 myopathy, centronuclear, autosomal recessive | |
| 193 androgen insensitivity, complete | |
| 193 androgen insensitivity, partial | |
| 193 androgen insensitivity, partial, with breast cancer | |
| 193 androgen insensitivity, partial, with or without breast cancer | |
| 193 androgen insensitivity syndrome | |
| 194 neurofibromatosis, familial spinal | |
| 194 neurofibromatosis-noonan syndrome | |
| 194 neurofibromatosis type 1 | |
| 194 neurofibromatosis, type 1 | |
| 194 neurofibromatosis, type 2 | |
| 194 neurofibromatosis, type i | |
| 194 neurofibromatosis, type ii | |
| 194 neurofibromatosis, type i, somatic | |
| 195 combined malonic and methylmalonic aciduria | |
| 195 methylmalonic acidemia and homocysteinemia, cblx type | |
| 195 methylmalonic acidemia with homocystinuria | |
| 195 methylmalonic aciduria and homocystinuria, cblc type | |
| 195 methylmalonic aciduria and homocystinuria,cblc type | |
| 195 methylmalonic aciduria and homocystinuria, cbld type | |
| 195 methylmalonic aciduria and homocystinuria, cblf type | |
| 195 methylmalonic aciduria and homocystinuria, cblj type | |
| 195 methylmalonic aciduria, cbla type | |
| 195 methylmalonic aciduria cblb type | |
| 195 methylmalonic aciduria, cblb type | |
| 195 methylmalonic aciduria, cbld type, variant 2 | |
| 195 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | |
| 195 methylmalonic aciduria, mut(0) type | |
| 195 methylmalonic aciduria, mut(-) type | |
| 195 mevalonic aciduria | |
| 196 meckel gruber syndrome | |
| 196 meckel-gruber syndrome | |
| 197 preeclampsia | |
| 197 preeclampsia/eclampsia 4 | |
| 197 preeclampsia/eclampsia 5 | |
| 197 preeclampsia, susceptibility to | |
| 198 bartter syndrome type 3 | |
| 198 bartter syndrome, type 3 | |
| 198 bartter syndrome, type 4a | |
| 198 bartter syndrome, type 4b | |
| 199 mckusick kaufman syndrome | |
| 199 mckusick-kaufman syndrome | |
| 200 gastric cancer, hereditary diffuse | |
| 200 gastric cancer, hereditary diffuse, and cleft lip with or without cleft palate | |
| 200 hereditary diffuse gastric cancer | |
| 201 thrombocytopenia absent radius syndrome | |
| 201 thrombocytopenia-absent radius syndrome | |
| 202 congenital neutropenia | |
| 202 cyclical neutropenia | |
| 202 cyclic neutropenia | |
| 202 neutropenia, severe congenital, 1, autosomal dominant | |
| 202 neutropenia, severe congenital, 2, autosomal dominant | |
| 202 neutropenia, severe congenital, 3, autosomal recessive | |
| 202 neutropenia, severe congenital, 4, autosomal recessive | |
| 202 neutropenia, severe congenital, 5, autosomal recessive | |
| 202 neutropenia, severe congenital, 6, autosomal recessive | |
| 202 neutropenia, severe congenital, x-linked | |
| 202 severe congenital neutropenia | |
| 202 severe congenital neutropenia 4, autosomal recessive | |
| 202 severe congenital neutropenia autosomal dominant | |
| 203 essential thrombocythemia | |
| 203 thrombocythemia 1 | |
| 203 thrombocythemia 2 | |
| 203 thrombocythemia 2, somatic | |
| 203 thrombocythemia 2, susceptibility to | |
| 203 thrombocythemia 3 | |
| 203 thrombocythemia 3, somatic | |
| 203 thrombocythemia, somatic | |
| 204 3-@methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | |
| 204 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | |
| 205 congenital erythropoietic porphyria | |
| 205 erythropoietic protoporphyria, autosomal recessive | |
| 205 porphyria, congenital erythropoietic | |
| 205 porphyria, hepatoerythropoietic | |
| 205 protoporphyria, erythropoietic | |
| 205 protoporphyria, erythropoietic, x-linked dominant | |
| 206 hydrocephalus | |
| 206 hydrocephalus, x-linked | |
| 206 hydrocephalus, x-linked, with hirschsprung disease | |
| 206 severe hydrocephalus | |
| 206 x-linked hydrocephalus syndrome | |
| 207 congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b1 | |
| 207 congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b14 | |
| 207 congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type b5 | |
| 207 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1 | |
| 207 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 | |
| 207 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 2 | |
| 207 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 3 | |
| 207 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 5 | |
| 207 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6 | |
| 207 muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 | |
| 207 muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 5 | |
| 208 knobloch syndrome 1 | |
| 208 knobloch syndrome, type 1 | |
| 209 hypophosphatasia, infantile | |
| 209 infantile hypophosphatasia | |
| 210 dermatitis, atopic, 2 | |
| 210 dermatitis, atopic, 2, susceptibility to | |
| 210 dermatitis, atopic, 6, susceptibility to | |
| 211 fabry disease | |
| 211 fabry''s disease | |
| 211 fabry's disease | |
| 212 spastic ataxia charlevoix-saguenay type | |
| 212 spastic ataxia, charlevoix-saguenay type | |
| 213 epidermal nevus, somatic | |
| 213 epidermal nevus with urothelial cancer, somatic | |
| 213 nevus, epidermal, somatic | |
| 214 charcot-marie-tooth disease | |
| 214 charcot-marie-tooth disease and deafness | |
| 214 charcot-marie-tooth disease, autosomal dominant, type 2k | |
| 214 charcot-marie-tooth disease, axonal, autosomal dominant, type 2k | |
| 214 charcot-marie-tooth disease, axonal, autosomal dominant, type 2k, modifier of (1 family) | |
| 214 charcot-marie-tooth disease, axonal, autosomal recessive, type 2k | |
| 214 charcot-marie-tooth disease, axonal, type 2a1 | |
| 214 charcot-marie-tooth disease, axonal, type 2a2 | |
| 214 charcot-marie-tooth disease, axonal, type 2a2, autosomal recessive | |
| 214 charcot-marie-tooth disease, axonal, type 2b | |
| 214 charcot-marie-tooth disease, axonal, type 2b1 | |
| 214 charcot-marie-tooth disease, axonal, type 2b2 (1 family) | |
| 214 charcot-marie-tooth disease, axonal, type 2d | |
| 214 charcot-marie-tooth disease, axonal, type 2e | |
| 214 charcot-marie-tooth disease, axonal, type 2f | |
| 214 charcot-marie-tooth disease, axonal, type 2l | |
| 214 charcot-marie-tooth disease, axonal, type 2m | |
| 214 charcot-marie-tooth disease, axonal, type 2n | |
| 214 charcot-marie-tooth disease, axonal, type 2o | |
| 214 charcot-marie-tooth disease, axonal, type 2p | |
| 214 charcot-marie-tooth disease, axonal, type 2q | |
| 214 charcot-marie-tooth disease, axonal, type 2q (1 family) | |
| 214 charcot-marie-tooth disease, axonal, type 2r | |
| 214 charcot-marie-tooth disease, axonal, type 2s | |
| 214 charcot-marie-tooth disease, axonal, type 2t | |
| 214 charcot-marie-tooth disease, axonal, type 2t (1 family) | |
| 214 charcot-marie-tooth disease, axonal, type 2u | |
| 214 charcot-marie-tooth disease, axonal, type 2v (1 family) | |
| 214 charcot-marie-tooth disease, axonal, type 2w | |
| 214 charcot-marie-tooth disease, axonal, type 2x | |
| 214 charcot-marie-tooth disease, axonal, type 2z | |
| 214 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive | |
| 214 charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4a | |
| 214 charcot-marie-tooth disease dominant intermediate 3 | |
| 214 charcot-marie-tooth disease, dominant intermediate b | |
| 214 charcot-marie-tooth disease, dominant intermediate b, with neutropenia | |
| 214 charcot-marie-tooth disease, dominant intermediate c | |
| 214 charcot-marie-tooth disease, dominant intermediate d | |
| 214 charcot-marie-tooth disease, dominant intermediate e | |
| 214 charcot-marie-tooth disease, dominant intermediate f | |
| 214 charcot-marie-tooth disease, recessive intermediate a | |
| 214 charcot-marie-tooth disease, recessive intermediate b (1 patient) | |
| 214 charcot-marie-tooth disease, recessive intermediate c | |
| 214 charcot-marie-tooth disease, recessive intermediate d | |
| 214 charcot-marie-tooth disease, type 1a | |
| 214 charcot-marie-tooth disease, type 1a, autosomal recessive | |
| 214 charcot-marie-tooth disease, type 1b | |
| 214 charcot-marie-tooth disease, type 1c | |
| 214 charcot-marie-tooth disease, type 1d | |
| 214 charcot-marie-tooth disease, type 1f | |
| 214 charcot-marie-tooth disease, type 2 | |
| 214 charcot-marie-tooth disease, type 2a2 | |
| 214 charcot-marie-tooth disease type 2b1 | |
| 214 charcot-marie-tooth disease type 2c | |
| 214 charcot-marie-tooth disease type 2d | |
| 214 charcot-marie-tooth disease type 2e | |
| 214 charcot-marie-tooth disease type 2f | |
| 214 charcot-marie-tooth disease type 2i | |
| 214 charcot-marie-tooth disease, type 2i | |
| 214 charcot-marie-tooth disease type 2j | |
| 214 charcot-marie-tooth disease, type 2j | |
| 214 charcot-marie-tooth disease type 2k | |
| 214 charcot-marie-tooth disease, type 2l | |
| 214 charcot-marie-tooth disease, type 2y | |
| 214 charcot-marie-tooth disease, type 4a | |
| 214 charcot-marie-tooth disease, type 4b1 | |
| 214 charcot-marie-tooth disease, type 4b2 | |
| 214 charcot-marie-tooth disease, type 4b3 | |
| 214 charcot-marie-tooth disease, type 4c | |
| 214 charcot-marie-tooth disease, type 4d | |
| 214 charcot-marie-tooth disease, type 4f | |
| 214 charcot-marie-tooth disease, type 4f, late-onset | |
| 214 charcot-marie-tooth disease, type 4g | |
| 214 charcot-marie-tooth disease, type 4h | |
| 214 charcot-marie-tooth disease, type 4j | |
| 214 charcot-marie-tooth disease, type 4k | |
| 214 charcot-marie-tooth disease, type i | |
| 214 charcot-marie-tooth disease, type ia | |
| 214 charcot-marie-tooth disease, type ib | |
| 214 charcot-marie-tooth disease, type ic | |
| 214 charcot-marie-tooth disease, type ie | |
| 214 charcot-marie-tooth disease, type iv | |
| 214 charcot-marie-tooth disease, type ivf | |
| 214 charcot-marie-tooth disease, x-linked dominant, 1 | |
| 214 charcot-marie-tooth disease, x-linked dominant, 6 (1 family) | |
| 214 charcot-marie-tooth disease, x-linked recessive, 5 | |
| 214 charcot-marie-tooth disease, x-linked recessive, type 5 | |
| 214 charcot-marie-tooth neuropathy type 1 | |
| 214 charcot-marie-tooth neuropathy type 2 | |
| 214 charcot-marie-tooth neuropathy type 4 | |
| 214 charcot-marie-tooth neuropathy type 4a | |
| 214 charcot-marie-tooth neuropathy type 4c | |
| 214 charcot-marie-tooth neuropathy x | |
| 214 charcot-marie-tooth neuropathy x type 1 | |
| 214 charcot-marie-tooth neuropathy x type 5 | |
| 214 dnm2-related intermediate charcot-marie-tooth neuropathy | |
| 215 primary pulmonary hypertension 3 | |
| 215 pulmonary arterial hypertension | |
| 215 pulmonary hypertension, neonatal, susceptibility to | |
| 215 pulmonary hypertension, primary, 1 | |
| 215 pulmonary hypertension, primary, 2 | |
| 215 pulmonary hypertension, primary, 3 | |
| 215 pulmonary hypertension, primary, 4 | |
| 216 gastrointestinal stromal tumor | |
| 216 gastrointestinal stromal tumor, familial | |
| 216 gastrointestinal stromal tumors | |
| 216 gastrointestinal stromal tumor, somatic | |
| 217 bilateral frontoparietal polymicrogyria | |
| 217 polymicrogyria, bilateral frontoparietal | |
| 218 parkinson disease 20, early-onset | |
| 218 parkinson disease 6, autosomal recessive early-onset | |
| 218 parkinson disease 6, early-onset | |
| 218 parkinson disease 6, late-onset, susceptibility to | |
| 218 parkinson disease 6, modifier of | |
| 218 parkinson disease 7, autosomal recessive early-onset | |
| 218 parkinson disease, age at onset, susceptibility to | |
| 218 parkinson disease, age of onset, modifier | |
| 218 parkinson disease, autosomal recessive early-onset, digenic, pink1/dj1 | |
| 218 parkinson disease, late-onset susceptibility to | |
| 218 parkinson disease, late-onset, susceptibility to | |
| 218 parkin type of early-onset parkinson disease | |
| 219 malignant hyperthermia | |
| 219 malignant hyperthermia equivocal with halotane | |
| 219 malignant hyperthermia susceptibility 1 | |
| 219 malignant hyperthermia, susceptibility to, 1 | |
| 219 malignant hyperthermia, susceptibility to, 5 | |
| 219 malignant hyperthermia susceptibility type 1 | |
| 219 malignant hypothermia | |
| 220 autoimmune polyglandular syndrome type 1 | |
| 220 polyglandular autoimmune syndrome, type 1 | |
| 221 von willebrand disease, type 1 | |
| 221 von willebrand disease, type 1, susceptibility to | |
| 221 von willebrand disease, type 2a | |
| 221 von willebrand disease, type 2a/iie | |
| 221 von willebrand disease, type 2b | |
| 221 von willebrand disease, type 2cb | |
| 221 von willebrand disease, type 2m | |
| 221 von willebrand disease, type 2n | |
| 221 von willebrand disease, type 3 | |
| 222 convulsions, familial infantile, with paroxysmal choreoathetosis | |
| 222 infantile convulsions and paroxysmal choreoathetosis, familial | |
| 223 abetalipoproteinemia | |
| 223 analphalipoproteinemia | |
| 223 dysbetalipoproteinemia due to apoe2 | |
| 223 hyperalphalipoproteinemia 1 | |
| 223 hyperapobetalipoproteinemia, susceptibility to | |
| 223 hyperlipoproteinemia and atherosclerosis associated with apoe5 | |
| 223 hyperlipoproteinemia, type i | |
| 223 hyperlipoproteinemia, type ib | |
| 223 hyperlipoproteinemia, type id | |
| 223 hyperlipoproteinemia, type iii | |
| 223 hyperlipoproteinemia, type iii, associated with apoe2 | |
| 223 hyperlipoproteinemia, type iii, associated with apoe2-fukuoka | |
| 223 hyperlipoproteinemia, type iii, associated with apoe4 | |
| 223 hyperlipoproteinemia, type iii, associated with apoe7 | |
| 223 hyperlipoproteinemia, type iii, associated with apoe deficiency | |
| 223 hyperlipoproteinemia, type iii, associated with apoe deficiency, autosomal recessive | |
| 223 hyperlipoproteinemia, type iii, associated with apoe leiden | |
| 223 hyperlipoproteinemia, type iii, autosomal dominant | |
| 223 hyperlipoproteinemia, type iii, autosomal recessive | |
| 223 hyperlipoproteinemia, type iii, due to apoe1-harrisburg | |
| 223 hyperlipoproteinemia, type iii, due to apoe2-christchurch | |
| 223 hyperlipoproteinemia, type iii, due to apoe4-philadelphia | |
| 223 hyperlipoproteinemia, type v | |
| 223 hypoalphalipoproteinemia, primary | |
| 223 hypobetalipoproteinemia | |
| 223 hypobetalipoproteinemia, familial | |
| 223 hypobetalipoproteinemia, familial, 2 | |
| 223 hypobetalipoproteinemia, familial, associated with apob31 | |
| 223 hypobetalipoproteinemia, familial, associated with apob32 | |
| 223 hypobetalipoproteinemia, familial, associated with apob39 | |
| 223 hypobetalipoproteinemia, familial, associated with apob40 | |
| 223 hypobetalipoproteinemia, familial, associated with apob46 | |
| 223 hypobetalipoproteinemia, familial, associated with apob87 | |
| 223 hypobetalipoproteinemia, familial, associated with apob90 or apob89 | |
| 224 hypomagnesemia 2, renal | |
| 224 hypomagnesemia 3, renal | |
| 224 hypomagnesemia, 3, renal | |
| 224 hypomagnesemia 4, renal | |
| 224 hypomagnesemia 6, renal | |
| 225 csf1r-related hereditary diffuse leukoencephalopathy with spheroids | |
| 225 hereditary diffuse leukoencephalopathy with spheroids | |
| 225 leukoencephalopathy, hereditary diffuse, with spheroids | |
| 226 epilepsy, pyridoxine-dependent | |
| 226 pyridoxal 5'-phosphate-dependent epilepsy | |
| 226 pyridoxine-dependent epilepsy | |
| 227 rheumatoid arthritis | |
| 227 rheumatoid arthritis, progression of | |
| 227 rheumatoid arthritis, susceptibility to | |
| 228 microphthalmia, syndromic 11 (1 patient) | |
| 228 microphthalmia, syndromic 1 (1 family) | |
| 228 microphthalmia, syndromic 12 | |
| 228 microphthalmia, syndromic 13 (1 family) | |
| 228 microphthalmia, syndromic 14 | |
| 228 microphthalmia, syndromic 14, autosomal recessive (1 family) | |
| 228 microphthalmia, syndromic 2 | |
| 228 microphthalmia, syndromic 3 | |
| 228 microphthalmia, syndromic 5 | |
| 228 microphthalmia, syndromic 6 | |
| 228 microphthalmia syndromic 9 | |
| 228 microphthalmia, syndromic 9 | |
| 229 usher syndrome, type 1 | |
| 229 usher syndrome, type 1b | |
| 229 usher syndrome, type 1c | |
| 229 usher syndrome, type 1d | |
| 229 usher syndrome, type 1f | |
| 229 usher syndrome, type 1g | |
| 229 usher syndrome type 2 | |
| 229 usher syndrome, type 2a | |
| 229 usher syndrome, type 2c | |
| 229 usher syndrome type 2d | |
| 229 usher syndrome, type 2d | |
| 229 usher syndrome, type 3 | |
| 229 usher syndrome, type 3a | |
| 229 usher syndrome type i | |
| 229 usher syndrome, type ib | |
| 229 usher syndrome, type ic | |
| 229 usher syndrome, type id | |
| 229 usher syndrome, type if | |
| 229 usher syndrome, type ig | |
| 229 usher syndrome, type ig, mild | |
| 229 usher syndrome, type iia | |
| 229 usher syndrome, type iic | |
| 229 usher syndrome, type iid | |
| 229 usher syndrome, type iiia | |
| 229 usher syndrome, type iiib | |
| 229 usher syndrome, type ij | |
| 230 epilepsy, focal, with speech disorder and with or without mental retardation | |
| 230 focal epilepsy with speech disorder with or without mental retardation | |
| 231 coffin siris/intellectual disability | |
| 231 intellectual disability | |
| 231 intellectual disability and seizures | |
| 231 intellectual disability, mild | |
| 231 intellectual disability syndrome | |
| 231 intellectual disability with severe speech impairment | |
| 231 kansl1-related intellectual disability syndrome | |
| 231 profound intellectual disability | |
| 231 severe intellectual disability | |
| 231 syndromic intellectual disability | |
| 231 x-linked intellectual disability | |
| 232 dopamine beta-hydroxylase activity, plasma | |
| 232 dopamine beta hydroxylase deficiency | |
| 232 dopamine beta-hydroxylase deficiency | |
| 233 epilepsy, progressive myoclonic, 3, with intracellular inclusions | |
| 233 epilepsy, progressive myoclonic, 3, without intracellular inclusions | |
| 234 ataxia, spastic, 2, autosomal recessive | |
| 234 spastic ataxia 2, autosomal recessive | |
| 234 spastic ataxia 3, autosomal recessive | |
| 234 spastic ataxia 4, autosomal recessive (1 family) | |
| 234 spastic ataxia 5, autosomal recessive | |
| 235 meningioma | |
| 235 meningioma, familial, susceptibility to | |
| 235 meningioma, somatic | |
| 236 benign familial neonatal-infantile seizures | |
| 236 benign familial neonatal seizures | |
| 236 benign familial neonatal seizures 1 | |
| 236 seizures, benign familial infantile, 2 | |
| 236 seizures, benign familial infantile, 3 | |
| 236 seizures, benign familial neonatal, 1 | |
| 236 seizures, benign familial neonatal, 1, and/or myokymia | |
| 236 seizures, benign familial neonatal, 2 | |
| 237 autosomal dominant hypophosphatemic rickets | |
| 237 hypophosphatemic rickets, autosomal dominant | |
| 237 hypophosphatemic rickets, autosomal recessive, 1 | |
| 237 hypophosphatemic rickets, autosomal recessive, 2 | |
| 237 hypophosphatemic rickets, x-linked dominant | |
| 237 hypophosphatemic rickets, x-linked recessive | |
| 237 rickets, hypophosphataemic | |
| 237 x-linked hypophosphatemic rickets | |
| 238 osteopetrosis, autosomal dominant 1 | |
| 238 osteopetrosis, autosomal dominant 2 | |
| 238 osteopetrosis autosomal dominant type 2 | |
| 238 osteosclerosis, autosomal dominant | |
| 239 dyggve-melchior-clausen disease | |
| 239 dyggve-melchior-clausen syndrome | |
| 240 multicentric osteolysis nephropathy | |
| 240 multicentric osteolysis, nodulosis and arthropathy | |
| 240 multicentric osteolysis, nodulosis, and arthropathy | |
| 241 heritable chronic pancreatitis | |
| 241 pancreatitis, chronic | |
| 241 pancreatitis, chronic, susceptibility to | |
| 242 hereditary spastic paraplegia | |
| 242 silver spastic paraplegia syndrome | |
| 242 spastic diplegia | |
| 242 spastic paraplegia | |
| 242 spastic paraplegia 10 | |
| 242 spastic paraplegia 11 | |
| 242 spastic paraplegia 11, autosomal recessive | |
| 242 spastic paraplegia 12, autosomal dominant | |
| 242 spastic paraplegia 13 | |
| 242 spastic paraplegia 15 | |
| 242 spastic paraplegia 15, autosomal recessive | |
| 242 spastic paraplegia 18, autosomal recessive | |
| 242 spastic paraplegia 2 | |
| 242 spastic paraplegia 20, autosomal recessive | |
| 242 spastic paraplegia 21 | |
| 242 spastic paraplegia 26, autosomal recessive | |
| 242 spastic paraplegia 28, autosomal recessive | |
| 242 spastic paraplegia 3 | |
| 242 spastic paraplegia 30, autosomal recessive | |
| 242 spastic paraplegia 31, autosomal dominant | |
| 242 spastic paraplegia 33, autosomal dominant (1 family) | |
| 242 spastic paraplegia 35 | |
| 242 spastic paraplegia 35, autosomal recessive | |
| 242 spastic paraplegia 39 | |
| 242 spastic paraplegia 39, autosomal recessive | |
| 242 spastic paraplegia 3a | |
| 242 spastic paraplegia 3, autosomal dominant | |
| 242 spastic paraplegia 4 | |
| 242 spastic paraplegia 42, autosomal dominant | |
| 242 spastic paraplegia 43, autosomal recessive (1 family) | |
| 242 spastic paraplegia 44 | |
| 242 spastic paraplegia 45 | |
| 242 spastic paraplegia 46, autosomal recessive | |
| 242 spastic paraplegia 47, autosomal recessive | |
| 242 spastic paraplegia 47, autosomal recessive; spg47 | |
| 242 spastic paraplegia 48 | |
| 242 spastic paraplegia 48, autosomal recessive | |
| 242 spastic paraplegia 49, autosomal recessive | |
| 242 spastic paraplegia 4, autosomal dominant | |
| 242 spastic paraplegia 4, modifier of | |
| 242 spastic paraplegia 50, autosomal recessive | |
| 242 spastic paraplegia 51, autosomal recessive | |
| 242 spastic paraplegia 52, autosomal recessive | |
| 242 spastic paraplegia 53, autosomal recessive | |
| 242 spastic paraplegia 54, autosomal recessive | |
| 242 spastic paraplegia 55, autosomal recessive | |
| 242 spastic paraplegia 56, autosomal recessive | |
| 242 spastic paraplegia 57, autosomal recessive (1 family) | |
| 242 spastic paraplegia 5a, autosomal recessive | |
| 242 spastic paraplegia 61, autosomal recessive (1 family) | |
| 242 spastic paraplegia 63 (1 family) | |
| 242 spastic paraplegia 64, autosomal recessive | |
| 242 spastic paraplegia 6, autosomal dominant | |
| 242 spastic paraplegia 7 | |
| 242 spastic paraplegia 72, autosomal dominant (1 family) | |
| 242 spastic paraplegia 72, autosomal recessive (1 family) | |
| 242 spastic paraplegia 73, autosomal dominant (1 family) | |
| 242 spastic paraplegia 74, autosomal recessive (1 family) | |
| 242 spastic paraplegia 75, autosomal recessive | |
| 242 spastic paraplegia 7, autosomal recessive | |
| 242 spastic paraplegia 8 | |
| 242 spastic paraplegia 8, autosomal dominant | |
| 242 spastic paraplegia 9a, autosomal dominant | |
| 242 spastic paraplegia 9b, autosomal recessive | |
| 242 spastic paraplegia type 7 | |
| 242 spastic quadriplegia | |
| 243 addison disease | |
| 243 addison disease, susceptibility to | |
| 244 mirror movements 2 | |
| 244 mirror movements 2, susceptibility to | |
| 244 mirror movements 3 (1 family) | |
| 244 mirror movements, congenital | |
| 245 infantile myofibromatosis 1 | |
| 245 myofibromatosis, infantile, 1 | |
| 245 myofibromatosis, infantile, 2 (1 family) | |
| 246 aromatic l-amino acid decarboxylase deficiency | |
| 246 deficiency of aromatic-l-amino-acid decarboxylase | |
| 247 niemann-pick disease, type a | |
| 247 niemann-pick disease, type b | |
| 247 niemann-pick disease type c | |
| 247 niemann-pick disease type c1 | |
| 247 niemann-pick disease, type c1 | |
| 247 niemann-pick disease, type c1, adult form | |
| 247 niemann-pick disease, type c1, juvenile form | |
| 247 niemann-pick disease type c2 | |
| 247 niemann-pick disease, type c2 | |
| 247 niemann-pick disease, type d | |
| 247 niemann-pick disease, variant type c1 | |
| 248 retinal dystrophy, early-onset, without pituitary dysfunction | |
| 248 retinal dystrophy, early-onset, with pituitary dysfunction | |
| 249 glaucoma 1, open angle, a | |
| 249 glaucoma 1, open angle, a, autosomal recessive | |
| 249 glaucoma 1, open angle, a, digenic | |
| 249 glaucoma 1, open angle, e | |
| 249 glaucoma 1, open angle, f | |
| 249 glaucoma 1, open angle, g | |
| 249 glaucoma 1, open angle, o | |
| 249 glaucoma 3a, primary open angle, congenital, juvenile, or adult onset, peters anomaly | |
| 249 glaucoma 3, primary congenital a | |
| 249 glaucoma 3, primary congenital, a | |
| 249 glaucoma 3, primary congenital, a, digenic | |
| 249 glaucoma 3, primary congenital, d | |
| 249 glaucoma, primary open angle, adult-onset | |
| 249 glaucoma, primary open angle, juvenile-onset | |
| 249 primary open angle glaucoma | |
| 250 congenital myotonia, autosomal recessive form | |
| 250 myotonia congenita | |
| 250 myotonia congenita, atypical | |
| 250 myotonia congenita, autosomal dominant | |
| 250 myotonia congenita, autosomal recessive | |
| 250 myotonia congenita, dominant | |
| 250 paramyotonia congenita | |
| 250 paramyotonia congenita/myotonia congenita | |
| 251 anemia, congenital dyserythropoietic, type ia | |
| 251 anemia, congenital dyserythropoietic, type ib | |
| 251 anemia, congenital dyserythropoietic, type ii | |
| 251 anemia, congenital dyserythropoietic, type iv | |
| 251 anemia, dyserythropoietic congenital, type iv | |
| 251 congenital dyserythropoietic anemia type i | |
| 251 macrocytic dyserythropoietic anemia | |
| 252 cchs with hirschsprung disease | |
| 252 hirschsprung disease | |
| 252 hirschsprung disease 1 | |
| 252 hirschsprung disease, susceptibility to, 1 | |
| 252 hirschsprung disease, susceptibility to, 2 | |
| 252 hirschsprung disease, susceptibility to, 3 | |
| 252 hirschsprung disease, susceptibility to, 4 | |
| 253 aml - acute myeloid leukemia | |
| 253 familial acute myeloid leukemia (aml) with mutated cebpa | |
| 253 leukemia, acute myelogenous, somatic | |
| 253 leukemia, acute myeloid | |
| 253 leukemia, acute myeloid (1 family) | |
| 253 leukemia, acute myeloid, m0 subtype | |
| 253 leukemia, acute myeloid, reduced survival in, somatic | |
| 253 leukemia, acute myeloid, somatic | |
| 253 leukemia, acute myeloid, susceptibility to | |
| 254 tooth agenesis, selective, 1 | |
| 254 tooth agenesis, selective, 3 | |
| 254 tooth agenesis, selective 4 | |
| 254 tooth agenesis, selective, 4 | |
| 254 tooth agenesis, selective, 7 | |
| 254 tooth agenesis, selective, with or without orofacial cleft | |
| 254 tooth agenesis, selective, x-linked | |
| 254 tooth agenesis, selective, x-linked, 1 | |
| 255 g6pd a- | |
| 255 g6pd a+ | |
| 256 capillary malformation-arteriovenous malformation | |
| 256 capillary malformation without arteriovenous malformation | |
| 257 ehlers-danlos/osteogenesis imperfecta crossover syndrome | |
| 257 osteogenesis imperfecta/ehlers-danlos crossover syndrome | |
| 258 microcephaly, seizures and developmental delay | |
| 258 microcephaly, seizures, and developmental delay | |
| 259 thrombocytopenia, x-linked, with dyserythropoietic anemia | |
| 259 thrombocytopenia, x-linked, without dyserythropoietic anemia | |
| 260 intrinsic factor deficiency | |
| 260 intrinsic factor deficiency, congenital, susceptibility to | |
| 261 merosin deficient congenital muscular dystrophy | |
| 261 muscular dystrophy, congenital merosin-deficient | |
| 262 schwartz jampel syndrome type 1 | |
| 262 schwartz-jampel syndrome, type 1 | |
| 263 leber optic atrophy | |
| 263 leber optic atrophy and dystonia | |
| 263 optic atrophy | |
| 263 optic atrophy 1 | |
| 263 optic atrophy 9 (1 family) | |
| 263 optic atrophy type 1 | |
| 264 nephrotic syndrome, type 5, with ocular abnormalities | |
| 264 nephrotic syndrome, type 5, without ocular abnormalities | |
| 265 chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 | |
| 265 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | |
| 265 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i | |
| 265 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii | |
| 265 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii | |
| 266 blepharophimosis, ptosis, and epicanthus inversus | |
| 266 blepharophimosis, ptosis, and epicanthus inversus, type i | |
| 266 blepharophimosis, ptosis, and epicanthus inversus, type i, autosomal recessive | |
| 266 blepharophimosis, ptosis, and epicanthus inversus, type ii | |
| 266 blepharophimosis, ptosis, and epicanthus inversus, type ii with duane retraction syndrome | |
| 267 xeroderma pigmentosum b/cockayne syndrome | |
| 267 xeroderma pigmentosum, complementation group a | |
| 267 xeroderma pigmentosum, complementation group c | |
| 267 xeroderma pigmentosum, complementation group d | |
| 267 xeroderma pigmentosum, complementation group e, ddb-negative form | |
| 267 xeroderma pigmentosum, complementation group g | |
| 267 xeroderma pigmentosum, group a | |
| 267 xeroderma pigmentosum, group c | |
| 267 xeroderma pigmentosum, group g | |
| 267 xeroderma pigmentosum group g/cockayne syndrome | |
| 267 xeroderma pigmentosum, type f | |
| 267 xeroderma pigmentosum, type f/cockayne syndrome | |
| 267 xeroderma pigmentosum, variant type | |
| 268 hyperphenylalaninemia, bh4-deficient, a | |
| 268 hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency | |
| 268 hyperphenylalaninemia, bh4-deficient, b | |
| 268 hyperphenylalaninemia, bh4-deficient, c | |
| 268 hyperphenylalaninemia, bh4-deficient, d | |
| 269 keratoderma, palmoplantar, punctate type ia | |
| 269 keratoderma, palmoplantar, with deafness | |
| 269 keratosis palmoplantaris striata ii | |
| 269 keratosis palmoplantaris striata iii | |
| 269 palmoplantar keratoderma | |
| 269 palmoplantar keratoderma and congenital alopecia 1 | |
| 269 palmoplantar keratoderma and woolly hair | |
| 269 palmoplantar keratoderma, bothnian type | |
| 269 palmoplantar keratoderma, epidermolytic | |
| 269 palmoplantar keratoderma, epidermolytic, with knuckle pads | |
| 269 palmoplantar keratoderma, focal | |
| 269 palmoplantar keratoderma, focal or diffuse | |
| 269 palmoplantar keratoderma i, focal | |
| 269 palmoplantar keratoderma i, striate | |
| 269 palmoplantar keratoderma i, striate or diffuse | |
| 269 palmoplantar keratoderma, nagashima type | |
| 269 palmoplantar keratoderma, nonepidermolytic | |
| 269 palmoplantar keratoderma, nonepidermolytic, focal 1 | |
| 269 palmoplantar keratoderma, nonepidermolytic, focal 2 (1 family) | |
| 270 bare lymphocyte syndrome, type ii, complementation group a | |
| 270 bare lymphocyte syndrome, type ii, complementation group b | |
| 270 bare lymphocyte syndrome, type ii, complementation group c | |
| 270 bare lymphocyte syndrome, type ii, complementation group d | |
| 270 bare lymphocyte syndrome, type ii, complementation group e | |
| 271 molybdenum cofactor deficiency, complementation group a | |
| 271 molybdenum cofactor deficiency, complementation group b | |
| 271 molybdenum cofactor deficiency, complementation group c | |
| 272 spherocytosis, type 3, due to spectrin lepra | |
| 272 spherocytosis, type 3, due to spectrin prague | |
| 272 spherocytosis, type 4, due to band 3 cape town | |
| 272 spherocytosis, type 4, due to band 3 chur | |
| 272 spherocytosis, type 4, due to band 3 coimbra | |
| 272 spherocytosis, type 4, due to band 3 fukuoka | |
| 272 spherocytosis, type 4, due to band 3 genas | |
| 272 spherocytosis, type 4, due to band 3 lyon | |
| 272 spherocytosis, type 4, due to band 3 montefiore | |
| 272 spherocytosis, type 4, due to band 3 noirterre | |
| 272 spherocytosis, type 4, due to band 3 prague | |
| 272 spherocytosis, type 4, due to band 3 prague ii | |
| 272 spherocytosis, type 4, due to band 3 prague iii | |
| 272 spherocytosis, type 4, due to band 3 tokyo | |
| 272 spherocytosis, type 4, due to band 3 tuscaloosa | |
| 273 fanconi anemia, complemementation group c | |
| 273 fanconi anemia, complementation group a | |
| 273 fanconi anemia, complementation group b | |
| 273 fanconi anemia, complementation group c | |
| 273 fanconi anemia, complementation group d1 | |
| 273 fanconi anemia, complementation group d2 | |
| 273 fanconi anemia, complementation group e | |
| 273 fanconi anemia, complementation group f | |
| 273 fanconi anemia, complementation group g | |
| 273 fanconi anemia, complementation group i | |
| 273 fanconi anemia, complementation group j | |
| 273 fanconi anemia, complementation group l | |
| 273 fanconi anemia, complementation group n | |
| 273 fanconi anemia, complementation group o | |
| 273 fanconi anemia, complementation group p | |
| 273 fanconi anemia, complementation group q | |
| 273 fanconi anemia, complementation group t | |
| 274 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | |
| 274 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | |
| 274 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 (1 family) | |
| 274 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | |
| 275 mucolipidosis ii | |
| 275 mucolipidosis ii alpha/beta | |
| 275 mucolipidosis iii alpha/beta | |
| 275 mucolipidosis iii alpha/beta, atypical | |
| 275 mucolipidosis iii gamma | |
| 275 mucolipidosis iv | |
| 276 aniridia, cerebellar ataxia, and mental retardation | |
| 276 cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 | |
| 276 cerebellar ataxia and mental retardation with quadrupedal locomotion 1 | |
| 276 cerebellar ataxia, congenital, and mental retardation, autosomal recessive | |
| 276 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | |
| 276 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | |
| 276 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (1 family) | |
| 276 cerebellar ataxia, nonprogressive, with mental retardation | |
| 276 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 | |
| 276 mental retardation, autosomal recessive 1 | |
| 276 mental retardation, autosomal recessive 12 | |
| 276 mental retardation, autosomal recessive 13 | |
| 276 mental retardation, autosomal recessive 14 | |
| 276 mental retardation, autosomal recessive 15 | |
| 276 mental retardation, autosomal recessive 18 | |
| 276 mental retardation, autosomal recessive 2 | |
| 276 mental retardation, autosomal recessive 27 | |
| 276 mental retardation, autosomal recessive 3 | |
| 276 mental retardation, autosomal recessive 34 | |
| 276 mental retardation, autosomal recessive 36 | |
| 276 mental retardation, autosomal recessive 37 | |
| 276 mental retardation, autosomal recessive 37 (1 family) | |
| 276 mental retardation, autosomal recessive 38 | |
| 276 mental retardation, autosomal recessive 39 | |
| 276 mental retardation, autosomal recessive 40 | |
| 276 mental retardation, autosomal recessive 41 | |
| 276 mental retardation, autosomal recessive 42 (1 family) | |
| 276 mental retardation, autosomal recessive 43 (1 family) | |
| 276 mental retardation, autosomal recessive 44 | |
| 276 mental retardation, autosomal recessive 45 (1 family) | |
| 276 mental retardation, autosomal recessive 46 | |
| 276 mental retardation, autosomal recessive 47 | |
| 276 mental retardation, autosomal recessive 48 | |
| 276 mental retardation, autosomal recessive 49 (1 family) | |
| 276 mental retardation, autosomal recessive 5 | |
| 276 mental retardation, autosomal recessive, 6 | |
| 276 mental retardation, autosomal recessive 7 | |
| 277 combined oxidative phosphorylation deficiency 1 | |
| 277 combined oxidative phosphorylation deficiency 10 | |
| 277 combined oxidative phosphorylation deficiency 11 | |
| 277 combined oxidative phosphorylation deficiency 12 | |
| 277 combined oxidative phosphorylation deficiency 13 | |
| 277 combined oxidative phosphorylation deficiency 14 | |
| 277 combined oxidative phosphorylation deficiency 15 | |
| 277 combined oxidative phosphorylation deficiency 16 | |
| 277 combined oxidative phosphorylation deficiency 16 (1 family) | |
| 277 combined oxidative phosphorylation deficiency 17 | |
| 277 combined oxidative phosphorylation deficiency 18 | |
| 277 combined oxidative phosphorylation deficiency 19 (1 family) | |
| 277 combined oxidative phosphorylation deficiency 2 | |
| 277 combined oxidative phosphorylation deficiency 20 | |
| 277 combined oxidative phosphorylation deficiency 21 (1 family) | |
| 277 combined oxidative phosphorylation deficiency 22 (1 family) | |
| 277 combined oxidative phosphorylation deficiency 23 | |
| 277 combined oxidative phosphorylation deficiency 24 | |
| 277 combined oxidative phosphorylation deficiency 25 (1 family) | |
| 277 combined oxidative phosphorylation deficiency 27 | |
| 277 combined oxidative phosphorylation deficiency 3 | |
| 277 combined oxidative phosphorylation deficiency 4 | |
| 277 combined oxidative phosphorylation deficiency 5 | |
| 277 combined oxidative phosphorylation deficiency 6 | |
| 277 combined oxidative phosphorylation deficiency 7 | |
| 277 combined oxidative phosphorylation deficiency 8 | |
| 277 combined oxidative phosphorylation deficiency 9 | |
| 278 catecholaminergic polymorphic ventricular tachycardia | |
| 278 ventricular tachycardia | |
| 278 ventricular tachycardia, catecholaminergic polymorphic, 1 | |
| 278 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and dilated cardiomyopathy | |
| 278 ventricular tachycardia, catecholaminergic polymorphic, 2 | |
| 278 ventricular tachycardia, catecholaminergic polymorphic, 4 | |
| 278 ventricular tachycardia, catecholaminergic polymorphic, 5 | |
| 278 ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness | |
| 278 ventricular tachycardia, polymorphic | |
| 278 ventricular tachycardia, somatic | |
| 279 growth hormone deficiency, isolated partial | |
| 279 isolated growth hormone deficiency type 1b | |
| 279 isolated growth hormone deficiency, type ia | |
| 279 isolated growth hormone deficiency, type ib | |
| 279 isolated growth hormone deficiency, type ii | |
| 279 isolated growth hormone deficiency, type iii | |
| 280 familial hypocalciuric hypercalcemia | |
| 280 hypercalciuric hypercalcemia | |
| 280 hypocalciuric hypercalcemia, familial, type i | |
| 280 hypocalciuric hypercalcemia, familial, type ii | |
| 280 hypocalciuric hypercalcemia, familial, type iii | |
| 281 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a11 | |
| 281 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a14 | |
| 281 congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a5 | |
| 281 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | |
| 281 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| 281 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | |
| 281 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 (1 family) | |
| 281 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | |
| 281 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 | |
| 281 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 | |
| 281 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 | |
| 281 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 | |
| 281 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 | |
| 281 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 | |
| 281 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | |
| 281 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 | |
| 281 muscular dystrophy-dystroglycanopathy (congenital with eye and brain anomalies), type a, 1 | |
| 282 angioedema, hereditary, autosomal recessive | |
| 282 angioedema, hereditary, type i | |
| 282 angioedema, hereditary, type ii | |
| 282 angioedema, hereditary, type iii | |
| 283 bjornstad syndrome with mild mitochondrial complex iii deficiency | |
| 283 leigh syndrome due to mitochondrial complex i deficiency | |
| 283 leigh syndrome due to mitochondrial complex i deficiency (1 patient) | |
| 283 leigh syndrome due to mitochondrial complex iii deficiency | |
| 283 leigh syndrome due to mitochondrial complex iv deficiency | |
| 283 leigh syndrome due to mitochondrial complex iv deficiency (1 family) | |
| 283 mitochondrial complex i deficiency | |
| 283 mitochondrial complex i deficiency due to acad9 deficiency | |
| 283 mitochondrial complex ii deficiency | |
| 283 mitochondrial complex iii deficiency | |
| 283 mitochondrial complex iii deficiency, nuclear type 1 | |
| 283 mitochondrial complex iii deficiency, nuclear type 2 | |
| 283 mitochondrial complex iii deficiency, nuclear type 3 | |
| 283 mitochondrial complex iii deficiency, nuclear type 4 | |
| 283 mitochondrial complex iii deficiency, nuclear type 5 (1 family) | |
| 283 mitochondrial complex iii deficiency, nuclear type 6 | |
| 283 mitochondrial complex iii deficiency, nuclear type 7 (1 patient) | |
| 283 mitochondrial complex iii deficiency, nuclear type 8 (1 patient) | |
| 283 mitochondrial complex iii deficiency, nuclear type 9 (1 patient) | |
| 283 mitochondrial complex iv deficiency | |
| 283 mitochondrial complex iv deficiency (1 family) | |
| 283 mitochondrial complex iv deficiency (1 patient) | |
| 283 mitochondrial complex v (atp synthase) deficiency, nuclear type 1 | |
| 283 mitochondrial complex v (atp synthase) deficiency, nuclear type 2 | |
| 283 mitochondrial complex v (atp synthase) deficiency, nuclear type 3 (1 patient) | |
| 283 mitochondrial complex v (atp synthase) deficiency, nuclear type 4 (1 family) | |
| 284 distal hereditary motor neuronopathy type 5 | |
| 284 hereditary motor and sensory neuropathy | |
| 284 hereditary motor and sensory neuropathy, okinawa type | |
| 284 hereditary motor and sensory neuropathy, type iic | |
| 284 hereditary sensory and autonomic neuropathy type ii | |
| 284 hereditary sensory and autonomic neuropathy type iv | |
| 284 hereditary sensory neuropathy type ia | |
| 284 neuronopathy, distal hereditary motor, type iia | |
| 284 neuronopathy, distal hereditary motor, type iib | |
| 284 neuronopathy, distal hereditary motor, type iib, autosomal recessive | |
| 284 neuronopathy, distal hereditary motor, type iic (1 family) | |
| 284 neuronopathy, distal hereditary motor, type iid | |
| 284 neuronopathy, distal hereditary motor, type v | |
| 284 neuronopathy, distal hereditary motor, type vb (1 family) | |
| 284 neuronopathy, distal hereditary motor, type viia | |
| 284 neuronopathy, distal hereditary motor, type viib | |
| 284 neuronopathy, distal hereditary motor, type viii | |
| 284 neuropathy, hereditary motor and sensory, russe type | |
| 284 neuropathy, hereditary motor and sensory, type via | |
| 284 neuropathy hereditary sensory and autonomic type 1 | |
| 284 neuropathy, hereditary sensory and autonomic, type ic, severe | |
| 284 neuropathy, hereditary sensory and autonomic, type iib | |
| 284 neuropathy, hereditary sensory and autonomic, type iid | |
| 284 neuropathy, hereditary sensory and autonomic, type i, severe | |
| 284 neuropathy, hereditary sensory and autonomic, type v | |
| 284 neuropathy, hereditary sensory and autonomic, type vi (1 family) | |
| 284 neuropathy, hereditary sensory and autonomic, type vii | |
| 284 neuropathy, hereditary sensory, type i | |
| 284 neuropathy, hereditary sensory, type ic | |
| 284 neuropathy, hereditary sensory, type id | |
| 284 neuropathy, hereditary sensory, type ie | |
| 284 neuropathy, hereditary sensory, type if | |
| 284 neuropathy, hereditary sensory, type ii | |
| 284 neuropathy, hereditary sensory, type iic | |
| 284 x-linked hereditary motor and sensory neuropathy | |
| 285 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | |
| 285 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency (1 family) | |
| 285 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency (1 family) | |
| 285 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency | |
| 285 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | |
| 285 myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | |
| 286 isovaleric acidemia | |
| 286 isovaleric acidemia, type i | |
| 286 isovaleric acidemia, type ii | |
| 286 isovaleric acidemia, type iii | |
| 287 alzheimer disease, familial, 3, with spastic paraparesis | |
| 287 alzheimer disease, familial, 3, with spastic paraparesis and apraxia | |
| 287 alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques | |
| 287 alzheimer disease, familial, 3, with unusual plaques | |
| 287 alzheimer disease, familial, with spastic paraparesis and unusual plaques | |
| 288 glutathione peroxidase polymorphism | |
| 288 glutathione s-transferase pi polymorphism, type a | |
| 288 glutathione s-transferase pi polymorphism, type b | |
| 288 glutathione s-transferase pi polymorphism, type c | |
| 289 hemoglobin a(2) adria | |
| 289 hemoglobin a(2) agrinio | |
| 289 hemoglobin a(2) babinga | |
| 289 hemoglobin a(2) campania | |
| 289 hemoglobin a(2) canada | |
| 289 hemoglobin a(2) capri | |
| 289 hemoglobin a(2) coburg | |
| 289 hemoglobin a(2) corfu | |
| 289 hemoglobin a(2) fitzroy | |
| 289 hemoglobin a(2) honai | |
| 289 hemoglobin a(2) indonesia | |
| 289 hemoglobin a(2) lucania | |
| 289 hemoglobin a(2) monreale | |
| 289 hemoglobin a(2) niigata | |
| 289 hemoglobin a(2) ninive | |
| 289 hemoglobin a(2) nyu | |
| 289 hemoglobin a(2) parkville | |
| 289 hemoglobin a(2)-prime | |
| 289 hemoglobin a(2) puglia | |
| 289 hemoglobin a(2) sant' antioco | |
| 289 hemoglobin a(2) sphakia | |
| 289 hemoglobin a(2) troodos | |
| 289 hemoglobin a(2) victoria | |
| 289 hemoglobin a(2) wrens | |
| 289 hemoglobin a(2) yialousa | |
| 289 hemoglobin a(2) yokoshima | |
| 289 hemoglobin a(2) zagreb | |
| 289 hemoglobin adana | |
| 289 hemoglobin agenogi | |
| 289 hemoglobin agrinio | |
| 289 hemoglobin aichi | |
| 289 hemoglobin aida | |
| 289 hemoglobin alabama | |
| 289 hemoglobin alamo | |
| 289 hemoglobin alberta | |
| 289 hemoglobin alesha | |
| 289 hemoglobin al-hammadi riyadh | |
| 289 hemoglobin altdorf | |
| 289 hemoglobin anamosa | |
| 289 hemoglobin anantharaj | |
| 289 hemoglobin ankara | |
| 289 hemoglobin ann arbor | |
| 289 hemoglobin antalya | |
| 289 hemoglobin antananarivo | |
| 289 hemoglobin arta | |
| 289 hemoglobin arya | |
| 289 hemoglobin asabara | |
| 289 hemoglobin atago | |
| 289 hemoglobin atlanta | |
| 289 hemoglobin atlanta-coventry | |
| 289 hemoglobin aubagne | |
| 289 hemoglobin auckland | |
| 289 hemoglobin aurora | |
| 289 hemoglobin austin | |
| 289 hemoglobin aztec | |
| 289 hemoglobin b(2) | |
| 289 hemoglobin baden | |
| 289 hemoglobin barbizon | |
| 289 hemoglobin barcelona | |
| 289 hemoglobin bari | |
| 289 hemoglobin baylor | |
| 289 hemoglobin beijing | |
| 289 hemoglobin beilinson | |
| 289 hemoglobin beirut | |
| 289 hemoglobin belfast | |
| 289 hemoglobin belliard | |
| 289 hemoglobin beograd | |
| 289 hemoglobin bethesda | |
| 289 hemoglobin beziers | |
| 289 hemoglobin bibba | |
| 289 hemoglobin bicetre | |
| 289 hemoglobin birmingham | |
| 289 hemoglobin birmingham (usa) | |
| 289 hemoglobin boghe | |
| 289 hemoglobin bologna | |
| 289 hemoglobin bologna-st. orsola | |
| 289 hemoglobin boras | |
| 289 hemoglobin brescia | |
| 289 hemoglobin brest | |
| 289 hemoglobin brigham | |
| 289 hemoglobin brisbane | |
| 289 hemoglobin bristol | |
| 289 hemoglobin broussais | |
| 289 hemoglobin buffalo | |
| 289 hemoglobin bunbury | |
| 289 hemoglobin burke | |
| 289 hemoglobin bushey | |
| 289 hemoglobin bushwick | |
| 289 hemoglobin buzen | |
| 289 hemoglobin c | |
| 289 hemoglobin caen | |
| 289 hemoglobin cagliari | |
| 289 hemoglobin calais | |
| 289 hemoglobin camden | |
| 289 hemoglobin camperdown | |
| 289 hemoglobin campinas | |
| 289 hemoglobin capa | |
| 289 hemoglobin casper | |
| 289 hemoglobin castilla | |
| 289 hemoglobin catonsville | |
| 289 hemoglobin chad | |
| 289 hemoglobin chandigarh | |
| 289 hemoglobin chapel hill | |
| 289 hemoglobin charolles | |
| 289 hemoglobin chartres | |
| 289 hemoglobin chemilly | |
| 289 hemoglobin cheverly | |
| 289 hemoglobin chiapas | |
| 289 hemoglobin chiba | |
| 289 hemoglobin chicago | |
| 289 hemoglobin chico | |
| 289 hemoglobin chile | |
| 289 hemoglobin city of hope | |
| 289 hemoglobin clinico-madrid | |
| 289 hemoglobin cochin-port royal | |
| 289 hemoglobin cocody | |
| 289 hemoglobin coimbra | |
| 289 hemoglobin colima | |
| 289 hemoglobin collingwood | |
| 289 hemoglobin conakry | |
| 289 hemoglobin contaldo | |
| 289 hemoglobin cordele | |
| 289 hemoglobin coventry | |
| 289 hemoglobin cowtown | |
| 289 hemoglobin cranston | |
| 289 hemoglobin crete | |
| 289 hemoglobin creteil | |
| 289 hemoglobin dagestan | |
| 289 hemoglobin d (agri) | |
| 289 hemoglobin dakar | |
| 289 hemoglobin dallas | |
| 289 hemoglobin d (baltimore) | |
| 289 hemoglobin d (bushman) | |
| 289 hemoglobin d (camperdown) | |
| 289 hemoglobin debrousse | |
| 289 hemoglobin denmark hill | |
| 289 hemoglobin denver | |
| 289 hemoglobin d (granada) | |
| 289 hemoglobin d (ibadan) | |
| 289 hemoglobin die | |
| 289 hemoglobin dieppe | |
| 289 hemoglobin d (iran) | |
| 289 hemoglobin djelfa | |
| 289 hemoglobin doha | |
| 289 hemoglobin douala | |
| 289 hemoglobin d (st. louis) | |
| 289 hemoglobin duan | |
| 289 hemoglobin duarte | |
| 289 hemoglobin duino | |
| 289 hemoglobin dunn | |
| 289 hemoglobin durham-n.c. | |
| 289 hemoglobin e | |
| 289 hemoglobin edmonton | |
| 289 hemoglobin egypt | |
| 289 hemoglobin ernz | |
| 289 hemoglobin e (saskatoon) | |
| 289 hemoglobin ethiopia | |
| 289 hemoglobin etobicoke | |
| 289 hemoglobin evans | |
| 289 hemoglobin evanston | |
| 289 hemoglobin f (auckland) | |
| 289 hemoglobin f (austell) | |
| 289 hemoglobin f (beech island) | |
| 289 hemoglobin f (bonaire) | |
| 289 hemoglobin f (calabria) | |
| 289 hemoglobin f (calluna) | |
| 289 hemoglobin f (caltech) | |
| 289 hemoglobin f (carlton) | |
| 289 hemoglobin f (catalonia) | |
| 289 hemoglobin f (charlotte) | |
| 289 hemoglobin f (clamart) | |
| 289 hemoglobin f (clarke) | |
| 289 hemoglobin f (cobb) | |
| 289 hemoglobin f (cosenza) | |
| 289 hemoglobin f (fuchu) | |
| 289 hemoglobin f (fukuyama) | |
| 289 hemoglobin f (granada) | |
| 289 hemoglobin f (heather) | |
| 289 hemoglobin f (hull) | |
| 289 hemoglobin f (iwata) | |
| 289 hemoglobin f (izumi) | |
| 289 hemoglobin f (jiangsu) | |
| 289 hemoglobin f (la grange) | |
| 289 hemoglobin f (lesvos) | |
| 289 hemoglobin f (lodz) | |
| 289 hemoglobin f (malaysia) | |
| 289 hemoglobin f (malta) | |
| 289 hemoglobin f (marietta) | |
| 289 hemoglobin f (meinohama) | |
| 289 hemoglobin f (minoo) | |
| 289 hemoglobin f (oakland) | |
| 289 hemoglobin f (onoda) | |
| 289 hemoglobin fort gordon | |
| 289 hemoglobin fort worth | |
| 289 hemoglobin f (poole) | |
| 289 hemoglobin f (pordenone) | |
| 289 hemoglobin f (port royal) | |
| 289 hemoglobin freiburg | |
| 289 hemoglobin f (shanghai) | |
| 289 hemoglobin f (siena) | |
| 289 hemoglobin f (texas i) | |
| 289 hemoglobin f (tokyo) | |
| 289 hemoglobin fuchu-i | |
| 289 hemoglobin fuchu-ii | |
| 289 hemoglobin fukui | |
| 289 hemoglobin fukuoka | |
| 289 hemoglobin fukutomi | |
| 289 hemoglobin fukuyama | |
| 289 hemoglobin f (veleta) | |
| 289 hemoglobin f (victoria jubilee) | |
| 289 hemoglobin f (waynesboro) | |
| 289 hemoglobin f (woodstock) | |
| 289 hemoglobin f (xinjiang) | |
| 289 hemoglobin f (xin-su) | |
| 289 hemoglobin f (yamaguchi) | |
| 289 hemoglobin g (bristol) | |
| 289 hemoglobin g (chinese) | |
| 289 hemoglobin geelong | |
| 289 hemoglobin gerland | |
| 289 hemoglobin g (fort worth) | |
| 289 hemoglobin g (galveston) | |
| 289 hemoglobin g (hong kong) | |
| 289 hemoglobin g (honolulu) | |
| 289 hemoglobin g (hsin-chu) | |
| 289 hemoglobin g (hsi-tsou) | |
| 289 hemoglobin gifu | |
| 289 hemoglobin g (norfolk) | |
| 289 hemoglobin godavari | |
| 289 hemoglobin gouda | |
| 289 hemoglobin g (pest) | |
| 289 hemoglobin g (port arthur) | |
| 289 hemoglobin grady | |
| 289 hemoglobin grange-blanche | |
| 289 hemoglobin graz | |
| 289 hemoglobin grenoble | |
| 289 hemoglobin g (saskatoon) | |
| 289 hemoglobin g (singapore) | |
| 289 hemoglobin g (szuhu) | |
| 289 hemoglobin g (taegu) | |
| 289 hemoglobin g (taichung) | |
| 289 hemoglobin g (taipei) | |
| 289 hemoglobin g (taiwan-ami) | |
| 289 hemoglobin g (texas) | |
| 289 hemoglobin guangzhou | |
| 289 hemoglobin guizhou | |
| 289 hemoglobin gun hill | |
| 289 hemoglobin hafnia | |
| 289 hemoglobin hakkari | |
| 289 hemoglobin hamadan | |
| 289 hemoglobin hamilton | |
| 289 hemoglobin hanamaki | |
| 289 hemoglobin handa | |
| 289 hemoglobin handsworth | |
| 289 hemoglobin hangzhou | |
| 289 hemoglobin harbin | |
| 289 hemoglobin harrow | |
| 289 hemoglobin hasharon | |
| 289 hemoglobin heathrow | |
| 289 hemoglobin hekinan | |
| 289 hemoglobin higashitochigi | |
| 289 hemoglobin hijiyama | |
| 289 hemoglobin hikari | |
| 289 hemoglobin hikoshima | |
| 289 hemoglobin himeji | |
| 289 hemoglobin hinsdale | |
| 289 hemoglobin hinwil | |
| 289 hemoglobin hirosaki | |
| 289 hemoglobin hirose | |
| 289 hemoglobin hiroshima | |
| 289 hemoglobin hobart | |
| 289 hemoglobin hofu | |
| 289 hemoglobin hope | |
| 289 hemoglobin hopkins 1 | |
| 289 hemoglobin hopkins 2 | |
| 289 hemoglobin hoshida | |
| 289 hemoglobin hotel-dieu | |
| 289 hemoglobin houston | |
| 289 hemoglobin howick | |
| 289 hemoglobin ht | |
| 289 hemoglobin hyogo | |
| 289 hemoglobin i | |
| 289 hemoglobin icaria | |
| 289 hemoglobin i (interlaken) | |
| 289 hemoglobin ilmenau | |
| 289 hemoglobin indianapolis | |
| 289 hemoglobin inkster | |
| 289 hemoglobin iowa | |
| 289 hemoglobin i (skamania) | |
| 289 hemoglobin i (texas) | |
| 289 hemoglobin i (toulouse) | |
| 289 hemoglobin iwata | |
| 289 hemoglobin j | |
| 289 hemoglobin j (abidjan) | |
| 289 hemoglobin jackson | |
| 289 hemoglobin jacksonville | |
| 289 hemoglobin j (aljezur) | |
| 289 hemoglobin j (amiens) | |
| 289 hemoglobin j (anatolia) | |
| 289 hemoglobin j (antakya) | |
| 289 hemoglobin j (auckland) | |
| 289 hemoglobin j (baltimore) | |
| 289 hemoglobin j (bangkok) | |
| 289 hemoglobin j (bari) | |
| 289 hemoglobin j (birmingham) | |
| 289 hemoglobin j (biskra) | |
| 289 hemoglobin j (broussais) | |
| 289 hemoglobin j (buda) | |
| 289 hemoglobin j (cairo) | |
| 289 hemoglobin j (calabria) | |
| 289 hemoglobin j (camaguey) | |
| 289 hemoglobin j (cape town) | |
| 289 hemoglobin j (chicago) | |
| 289 hemoglobin j (cordoba) | |
| 289 hemoglobin j (cosenza) | |
| 289 hemoglobin j (cubujuqui) | |
| 289 hemoglobin j (daloa) | |
| 289 hemoglobin jenkins | |
| 289 hemoglobin j (europa) | |
| 289 hemoglobin j (habana) | |
| 289 hemoglobin jianghua | |
| 289 hemoglobin jinan | |
| 289 hemoglobin j (iran) | |
| 289 hemoglobin j (kaohsiung) | |
| 289 hemoglobin j (kurosh) | |
| 289 hemoglobin j (lens) | |
| 289 hemoglobin j (lome) | |
| 289 hemoglobin j (luhe) | |
| 289 hemoglobin j (medellin) | |
| 289 hemoglobin j (meerut) | |
| 289 hemoglobin j (mexico) | |
| 289 hemoglobin j (norfolk) | |
| 289 hemoglobin j (nyanza) | |
| 289 hemoglobin johnstown | |
| 289 hemoglobin j (oxford) | |
| 289 hemoglobin j (paris 1) | |
| 289 hemoglobin j (paris 2) | |
| 289 hemoglobin j (pontoise) | |
| 289 hemoglobin j (rajappen) | |
| 289 hemoglobin j (rambam) | |
| 289 hemoglobin j (rovigo) | |
| 289 hemoglobin j (sardegna) | |
| 289 hemoglobin j (sicilia) | |
| 289 hemoglobin j (singa) | |
| 289 hemoglobin j (singapore) | |
| 289 hemoglobin j (taichung) | |
| 289 hemoglobin j (tongariki) | |
| 289 hemoglobin j (toronto) | |
| 289 hemoglobin j (wenchang-wuming) | |
| 289 hemoglobin kagoshima | |
| 289 hemoglobin kairouan | |
| 289 hemoglobin kanagawa | |
| 289 hemoglobin kansas | |
| 289 hemoglobin karachi | |
| 289 hemoglobin kariya | |
| 289 hemoglobin karlskoga | |
| 289 hemoglobin kawachi | |
| 289 hemoglobin k (cameroon) | |
| 289 hemoglobin kempsey | |
| 289 hemoglobin kenitra | |
| 289 hemoglobin kenwood | |
| 289 hemoglobin kenya | |
| 289 hemoglobin k (ibadan) | |
| 289 hemoglobin kobe | |
| 289 hemoglobin kochi | |
| 289 hemoglobin kodaira | |
| 289 hemoglobin kodaira ii | |
| 289 hemoglobin kofu | |
| 289 hemoglobin kokura | |
| 289 hemoglobin koln | |
| 289 hemoglobin korea | |
| 289 hemoglobin koriyama | |
| 289 hemoglobin korle-bu | |
| 289 hemoglobin koya dora | |
| 289 hemoglobin kurashiki | |
| 289 hemoglobin kurosaki | |
| 289 hemoglobin k (woolwich) | |
| 289 hemoglobin lamen island | |
| 289 hemoglobin leiden | |
| 289 hemoglobin le lamentin | |
| 289 hemoglobin lepore (baltimore) | |
| 289 hemoglobin lepore (boston) | |
| 289 hemoglobin leslie | |
| 289 hemoglobin lille | |
| 289 hemoglobin lisbon | |
| 289 hemoglobin little rock | |
| 289 hemoglobin loire | |
| 289 hemoglobin lombard | |
| 289 hemoglobin louisville | |
| 289 hemoglobin lucknow | |
| 289 hemoglobin lufkin | |
| 289 hemoglobin luton | |
| 289 hemoglobin lyon | |
| 289 hemoglobin machida | |
| 289 hemoglobin madrid | |
| 289 hemoglobin mahidol | |
| 289 hemoglobin m (akita) | |
| 289 hemoglobin malay | |
| 289 hemoglobin malhacen | |
| 289 hemoglobin malmo | |
| 289 hemoglobin manawatu | |
| 289 hemoglobin manitoba | |
| 289 hemoglobin manukau | |
| 289 hemoglobin maputo | |
| 289 hemoglobin marineo | |
| 289 hemoglobin marseille | |
| 289 hemoglobin masuda | |
| 289 hemoglobin matera | |
| 289 hemoglobin m (boston) | |
| 289 hemoglobin mequon | |
| 289 hemoglobin mexico | |
| 289 hemoglobin michigan-i | |
| 289 hemoglobin michigan-ii | |
| 289 hemoglobin mito | |
| 289 hemoglobin m (iwate) | |
| 289 hemoglobin miyada | |
| 289 hemoglobin miyano | |
| 289 hemoglobin miyashiro | |
| 289 hemoglobin mizuho | |
| 289 hemoglobin mizunami | |
| 289 hemoglobin mizushi | |
| 289 hemoglobin moabit | |
| 289 hemoglobin mobile | |
| 289 hemoglobin molfetta | |
| 289 hemoglobin montefiore | |
| 289 hemoglobin montgomery | |
| 289 hemoglobin montreal | |
| 289 hemoglobin m (osaka) | |
| 289 hemoglobin moscva | |
| 289 hemoglobin mosella | |
| 289 hemoglobin motown | |
| 289 hemoglobin m (saskatoon) | |
| 289 hemoglobin m (sendai) | |
| 289 hemoglobin mugino | |
| 289 hemoglobin muscat | |
| 289 hemoglobin muskegon | |
| 289 hemoglobin nagasaki | |
| 289 hemoglobin nagoya | |
| 289 hemoglobin nakano | |
| 289 hemoglobin nancy | |
| 289 hemoglobin natal | |
| 289 hemoglobin n (baltimore) | |
| 289 hemoglobin n, beta type | |
| 289 hemoglobin n (cosenza) | |
| 289 hemoglobin nevers | |
| 289 hemoglobin new mexico | |
| 289 hemoglobin new york | |
| 289 hemoglobin nigeria | |
| 289 hemoglobin nikaia | |
| 289 hemoglobin nikosia | |
| 289 hemoglobin nishik | |
| 289 hemoglobin n (jenkins) | |
| 289 hemoglobin noko | |
| 289 hemoglobin norfolk | |
| 289 hemoglobin north chicago | |
| 289 hemoglobin north shore | |
| 289 hemoglobin norton | |
| 289 hemoglobin nottingham | |
| 289 hemoglobin n (seattle) | |
| 289 hemoglobin n (timone) | |
| 289 hemoglobin nyu | |
| 289 hemoglobin o (arab) | |
| 289 hemoglobin ogi | |
| 289 hemoglobin ohio | |
| 289 hemoglobin o (indonesia) | |
| 289 hemoglobin oita | |
| 289 hemoglobin okaloosa | |
| 289 hemoglobin okayama | |
| 289 hemoglobin okazaki | |
| 289 hemoglobin oleander | |
| 289 hemoglobin o (padova) | |
| 289 hemoglobin osler | |
| 289 hemoglobin ottawa | |
| 289 hemoglobin owari | |
| 289 hemoglobin ozieri | |
| 289 hemoglobin p | |
| 289 hemoglobin pakse | |
| 289 hemoglobin palmerston north | |
| 289 hemoglobin parchman | |
| 289 hemoglobin part-dieu | |
| 289 hemoglobin pasadena | |
| 289 hemoglobin passy | |
| 289 hemoglobin pavie | |
| 289 hemoglobin p (congo) | |
| 289 hemoglobin perspolis | |
| 289 hemoglobin perth | |
| 289 hemoglobin p (galveston) | |
| 289 hemoglobin philly | |
| 289 hemoglobin p (nilotic) | |
| 289 hemoglobin poissy | |
| 289 hemoglobin poitiers | |
| 289 hemoglobin pontoise | |
| 289 hemoglobin port huron | |
| 289 hemoglobin port phillip | |
| 289 hemoglobin potomac | |
| 289 hemoglobin prato | |
| 289 hemoglobin pyrgos | |
| 289 hemoglobin q | |
| 289 hemoglobin q (india) | |
| 289 hemoglobin q (iran) | |
| 289 hemoglobin q (thailand) | |
| 289 hemoglobin queens | |
| 289 hemoglobin quin-hai | |
| 289 hemoglobin rahere | |
| 289 hemoglobin rainier | |
| 289 hemoglobin raleigh | |
| 289 hemoglobin ramona | |
| 289 hemoglobin rampa | |
| 289 hemoglobin randwick | |
| 289 hemoglobin redondo | |
| 289 hemoglobin regina | |
| 289 hemoglobin reims | |
| 289 hemoglobin renert | |
| 289 hemoglobin riccarton | |
| 289 hemoglobin rio claro | |
| 289 hemoglobin rio grande | |
| 289 hemoglobin riyadh | |
| 289 hemoglobin roanne | |
| 289 hemoglobin rockford | |
| 289 hemoglobin roubaix | |
| 289 hemoglobin rouen | |
| 289 hemoglobin rush | |
| 289 hemoglobin russ | |
| 289 hemoglobin s | |
| 289 hemoglobin saale | |
| 289 hemoglobin sabine | |
| 289 hemoglobin sagami | |
| 289 hemoglobin saint nazaire | |
| 289 hemoglobin saitama | |
| 289 hemoglobin saki | |
| 289 hemoglobin san antonio | |
| 289 hemoglobin san diego | |
| 289 hemoglobin santa ana | |
| 289 hemoglobin santa clara | |
| 289 hemoglobin santander | |
| 289 hemoglobin s (antilles) | |
| 289 hemoglobin sassari | |
| 289 hemoglobin savannah | |
| 289 hemoglobin savaria | |
| 289 hemoglobin saverne | |
| 289 hemoglobin sawara | |
| 289 hemoglobin s (cameroon) | |
| 289 hemoglobin seal rock | |
| 289 hemoglobin sealy | |
| 289 hemoglobin seattle | |
| 289 hemoglobin sendagi | |
| 289 hemoglobin serbia | |
| 289 hemoglobin setif | |
| 289 hemoglobin shanghai | |
| 289 hemoglobin shelby | |
| 289 hemoglobin shenyang | |
| 289 hemoglobin shepherds bush | |
| 289 hemoglobin shuangfeng | |
| 289 hemoglobin siam | |
| 289 hemoglobin sinai | |
| 289 hemoglobin singapore | |
| 289 hemoglobin siriraj | |
| 289 hemoglobin sitia | |
| 289 hemoglobin sogn | |
| 289 hemoglobin s (oman) | |
| 289 hemoglobin sparta | |
| 289 hemoglobin stanmore | |
| 289 hemoglobin st. antoine | |
| 289 hemoglobin st. claude | |
| 289 hemoglobin st. francis | |
| 289 hemoglobin st. louis | |
| 289 hemoglobin st. luke's | |
| 289 hemoglobin st. mande | |
| 289 hemoglobin s (travis) | |
| 289 hemoglobin strumica | |
| 289 hemoglobin suan-dok | |
| 289 hemoglobin summer hill | |
| 289 hemoglobin suresnes | |
| 289 hemoglobin sydney | |
| 289 hemoglobin syracuse | |
| 289 hemoglobin tacoma | |
| 289 hemoglobin tagawa i | |
| 289 hemoglobin tagawa ii | |
| 289 hemoglobin tak | |
| 289 hemoglobin takamatsu | |
| 289 hemoglobin ta-li | |
| 289 hemoglobin tamano | |
| 289 hemoglobin tampa | |
| 289 hemoglobin tarrant | |
| 289 hemoglobin tatras | |
| 289 hemoglobin taybe | |
| 289 hemoglobin tende | |
| 289 hemoglobin thailand | |
| 289 hemoglobin thionville | |
| 289 hemoglobin tilburg | |
| 289 hemoglobin titusville | |
| 289 hemoglobin 't lange land | |
| 289 hemoglobin tochigi | |
| 289 hemoglobin tokoname | |
| 289 hemoglobin tokuchi | |
| 289 hemoglobin tokyo | |
| 289 hemoglobin tonosho | |
| 289 hemoglobin torino | |
| 289 hemoglobin tottori | |
| 289 hemoglobin toulon | |
| 289 hemoglobin tours | |
| 289 hemoglobin toyama | |
| 289 hemoglobin toyoake | |
| 289 hemoglobin trento | |
| 289 hemoglobin tripoli | |
| 289 hemoglobin tsukumi | |
| 289 hemoglobin tsurumai | |
| 289 hemoglobin tubingen | |
| 289 hemoglobin tunis | |
| 289 hemoglobin tunis-bizerte | |
| 289 hemoglobin turriff | |
| 289 hemoglobin ty gard | |
| 289 hemoglobin tyne | |
| 289 hemoglobin ube-2 | |
| 289 hemoglobin ube-4 | |
| 289 hemoglobin umi | |
| 289 hemoglobin vaasa | |
| 289 hemoglobin volga | |
| 289 hemoglobin watford | |
| 289 hemoglobin watts | |
| 289 hemoglobin wayne | |
| 289 hemoglobin wien | |
| 289 hemoglobin windsor | |
| 289 hemoglobin winnipeg | |
| 289 hemoglobin wood | |
| 289 hemoglobin woodville | |
| 289 hemoglobin wuming | |
| 289 hemoglobin yahata | |
| 289 hemoglobin yaizu | |
| 289 hemoglobin yakima | |
| 289 hemoglobin yamagata | |
| 289 hemoglobin yaounde | |
| 289 hemoglobin yokohama | |
| 289 hemoglobin york | |
| 289 hemoglobin yuda | |
| 289 hemoglobin yusa | |
| 289 hemoglobin zaire | |
| 289 hemoglobin zambia | |
| 290 gangliosidosis gm1 type 3 | |
| 290 gm1-gangliosidosis, type i | |
| 290 gm1-gangliosidosis, type ii | |
| 290 gm1-gangliosidosis, type iii | |
| 290 gm2-gangliosidosis, adult | |
| 290 gm2-gangliosidosis, adult-onset | |
| 290 gm2-gangliosidosis, late onset | |
| 290 infantile gm1 gangliosidosis | |
| 291 hemoglobin oliviere | |
| 291 hemoglobin o (oliviere) | |
| 292 atelosteogenesis, type i | |
| 292 atelosteogenesis, type ii | |
| 292 atelosteogenesis, type iii | |
| 293 multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| 293 multiple congenital anomalies-hypotonia-seizures syndrome 2 | |
| 293 multiple congenital anomalies-hypotonia-seizures syndrome 3 | |
| 293 multiple congenital anomalies-hypotonia-seizures syndrome 3 (1 family) | |
| 294 hyperphosphatasia with mental retardation syndrome 1 | |
| 294 hyperphosphatasia with mental retardation syndrome 2 | |
| 294 hyperphosphatasia with mental retardation syndrome 3 | |
| 294 hyperphosphatasia with mental retardation syndrome 4 | |
| 294 hyperphosphatasia with mental retardation syndrome 5 (1 family) | |
| 295 mandibuloacral dysplasia | |
| 295 mandibuloacral dysplasia & progeria syndrome | |
| 295 mandibuloacral dysplasia with type a lipodystrophy | |
| 295 mandibuloacral dysplasia with type a lipodystrophy, atypical | |
| 295 mandibuloacral dysplasia with type b lipodystrophy | |
| 296 brain iron accummulation | |
| 296 iron accumulation in brain | |
| 296 neurodegeneration with brain iron accululation 5 | |
| 296 neurodegeneration with brain iron accumulation | |
| 296 neurodegeneration with brain iron accumulation 1 | |
| 296 neurodegeneration with brain iron accumulation 1, atypical | |
| 296 neurodegeneration with brain iron accumulation 2a | |
| 296 neurodegeneration with brain iron accumulation 2b | |
| 296 neurodegeneration with brain iron accumulation 3 | |
| 296 neurodegeneration with brain iron accumulation 4 | |
| 296 neurodegeneration with brain iron accumulation 5 | |
| 296 neurodegeneration with brain iron accumulation 6 | |
| 297 multiple mitochondrial dysfunctions syndrome 1 | |
| 297 multiple mitochondrial dysfunctions syndrome 2 | |
| 297 multiple mitochondrial dysfunctions syndrome 3 (1 family) | |
| 297 multiple mitochondrial dysfunctions syndrome 4 | |
| 298 spondylocostal dysostosis 1, autosomal recessive | |
| 298 spondylocostal dysostosis 2, autosomal recessive | |
| 298 spondylocostal dysostosis 3, autosomal recessive (1 family) | |
| 298 spondylocostal dysostosis 4 | |
| 298 spondylocostal dysostosis 5 | |
| 298 spondylocostal dysostosis, autosomal recessive | |
| 299 spherocytosis, type 1, due to ankyrin saint-etienne 1 | |
| 299 spherocytosis, type 1, due to ankyrin saint-etienne 2 | |
| 300 hydrocephalus, nonsyndromic, autosomal recessive | |
| 300 hydrocephalus, nonsyndromic, autosomal recessive 1 | |
| 300 hydrocephalus, nonsyndromic, autosomal recessive 2 | |
| 301 ehlers-danlos syndrome, musculocontractural type | |
| 301 ehlers-danlos syndrome, musculocontractural type 1 | |
| 301 ehlers-danlos syndrome, musculocontractural type 2 (1 family) | |
| 302 chronic progressive external ophthalmoplegia with myopathy, somatic | |
| 302 progressive external ophthalmoplegia, autosomal dominant | |
| 302 progressive external ophthalmoplegia, proximal myopathy, and sudden death | |
| 302 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 | |
| 302 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 | |
| 302 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 | |
| 302 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 | |
| 302 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 | |
| 302 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 | |
| 302 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 | |
| 302 progressive external ophthalmoplegia with mitochondrial dna deletions, digenic | |
| 302 progressive external ophthalmoplegia with myoclonus | |
| 303 heterotopia, periventricular, 1 | |
| 303 heterotopia, periventricular nodular, 1 | |
| 303 heterotopia, periventricular nodular, x-linked dominant, with melnick-needles syndrome | |
| 303 periventricular nodular heterotopia | |
| 303 periventricular nodular heterotopia 6 (1 family) | |
| 303 x-linked periventricular heterotopia | |
| 304 inflammatory bowel disease 10, susceptibility to | |
| 304 inflammatory bowel disease 13, susceptibility to | |
| 304 inflammatory bowel disease 14, susceptibility to | |
| 304 inflammatory bowel disease 19 | |
| 304 inflammatory bowel disease 1, susceptibility to | |
| 304 inflammatory bowel disease 25 | |
| 304 inflammatory bowel disease 28 | |
| 304 inflammatory skin and bowel disease, neonatal, 1 (1 family) | |
| 304 inflammatory skin and bowel disease, neonatal, 2 (1 family) | |
| 305 thyroxine-binding globulin, chicago | |
| 305 thyroxine-binding globulin deficiency, complete | |
| 305 thyroxine-binding globulin deficiency, complete, buffalo type | |
| 305 thyroxine-binding globulin deficiency, complete, jackson type | |
| 305 thyroxine-binding globulin deficiency, complete, japanese type | |
| 305 thyroxine-binding globulin deficiency, complete, kankakee type | |
| 305 thyroxine-binding globulin deficiency, complete, negev type | |
| 305 thyroxine-binding globulin deficiency, partial, gary type | |
| 305 thyroxine-binding globulin deficiency, partial, japanese type | |
| 305 thyroxine-binding globulin deficiency, partial, montreal type | |
| 305 thyroxine-binding globulin deficiency, partial, quebec type | |
| 305 thyroxine-binding globulin excess | |
| 305 thyroxine-binding globulin, slow | |
| 305 thyroxine-binding globulin, variant a | |
| 305 thyroxine-binding globulin, variant p | |
| 306 leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | |
| 306 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation | |
| 306 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, mild | |
| 307 ectopia lentis 1, isolated, autosomal dominant | |
| 307 ectopia lentis 2, isolated, autosomal recessive | |
| 307 ectopia lentis, isolated, autosomal dominant | |
| 307 ectopia lentis, isolated autosomal recessive | |
| 308 renal-hepatic-pancreatic dysplasia | |
| 308 renal-hepatic-pancreatic dysplasia 1 | |
| 308 renal-hepatic-pancreatic dysplasia 2 (1 family) | |
| 309 inclusion body myopathy 2 | |
| 309 inclusion body myopathy 2, autosomal recessive | |
| 309 inclusion body myopathy 3 | |
| 309 inclusion body myopathy, autosomal recessive | |
| 310 high density lipoprotein cholesterol level quantitative trait locus 10 | |
| 310 high density lipoprotein cholesterol level quantitative trait locus 11 | |
| 310 high density lipoprotein cholesterol level quantitative trait locus 12 | |
| 310 high density lipoprotein cholesterol level quantitative trait locus 13 | |
| 310 high density lipoprotein cholesterol level quantitative trait locus 6 | |
| 310 high density lipoprotein cholesterol level quantitative trait locus 7 | |
| 310 high density lipoprotein cholesterol level quantitative trait locus 8 | |
| 310 high density lipoprotein cholesterol level quantitative trait locus 9 | |
| 310 low density lipoprotein cholesterol level quantitative trait locus 1 | |
| 310 low density lipoprotein cholesterol level quantitative trait locus 3 | |
| 310 low density lipoprotein cholesterol level quantitative trait locus 6 | |
| 311 inclusion body myopathy with early-onset paget disease and frontotemporal dementia | |
| 311 inclusion body myopathy with early-onset paget disease and frontotemporal dementia 2 (1 family) | |
| 311 inclusion body myopathy with early-onset paget disease without frontotemporal dementia 3 (1 family) | |
| 312 microcephalic osteodysplastic primordial dwarfism type 2 | |
| 312 microcephalic osteodysplastic primordial dwarfism, type i | |
| 312 microcephalic osteodysplastic primordial dwarfism, type ii | |
| 313 hennekam lymphangiectasia-lymphedema syndrome | |
| 313 hennekam lymphangiectasia-lymphedema syndrome 1 | |
| 313 hennekam lymphangiectasia-lymphedema syndrome 2 | |
| 314 bone mineral density quantitative trait locus 1 | |
| 314 bone mineral density quantitative trait locus 12 | |
| 314 bone mineral density quantitative trait locus 15 | |
| 314 bone mineral density quantitative trait locus 17 | |
| 314 bone mineral density quantitative trait locus 18 | |
| 314 bone mineral density variation quantitative trait locus | |
| 315 autoimmune lymphoproliferative syndrome | |
| 315 autoimmune lymphoproliferative syndrome, type 2 | |
| 315 autoimmune lymphoproliferative syndrome, type ia | |
| 315 autoimmune lymphoproliferative syndrome, type ia, autosomal recessive | |
| 315 autoimmune lymphoproliferative syndrome, type ib | |
| 315 autoimmune lymphoproliferative syndrome, type iia | |
| 315 autoimmune lymphoproliferative syndrome, type iii | |
| 315 autoimmune lymphoproliferative syndrome, type v | |
| 315 lymphoproliferative disorders, susceptibility to | |
| 315 lymphoproliferative syndrome 1 | |
| 315 lymphoproliferative syndrome 2 | |
| 315 lymphoproliferative syndrome, ebv-associated, autosomal, 1 | |
| 315 lymphoproliferative syndrome, x-linked, 1 | |
| 315 lymphoproliferative syndrome, x-linked, 2 | |
| 316 bone marrow failure syndrome 1 | |
| 316 bone marrow failure syndrome 2 | |
| 316 bone marrow failure, telomere-related, 1 | |
| 316 bone marrow failure, telomere-related, 2 | |
| 316 pulmonary fibrosis and bone marrow failure, telomere-related, 2 | |
| 316 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 | |
| 316 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 | |
| 316 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 | |
| 316 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 | |
| 316 pulmonary fibrosis, telomere-related, 1 | |
| 316 pulmonary fibrosis, telomere-related, 2 | |
| 317 mental retardation, autosomal dominant 1 | |
| 317 mental retardation, autosomal dominant 10 | |
| 317 mental retardation, autosomal dominant 11 (1 family) | |
| 317 mental retardation, autosomal dominant 12 | |
| 317 mental retardation, autosomal dominant 13 | |
| 317 mental retardation, autosomal dominant 13, with neuronal migration defects | |
| 317 mental retardation, autosomal dominant 14 | |
| 317 mental retardation, autosomal dominant 15 | |
| 317 mental retardation, autosomal dominant 16 | |
| 317 mental retardation, autosomal dominant 17 | |
| 317 mental retardation, autosomal dominant 18 | |
| 317 mental retardation, autosomal dominant 19 | |
| 317 mental retardation, autosomal dominant 20 | |
| 317 mental retardation, autosomal dominant 21 | |
| 317 mental retardation, autosomal dominant 22 (1 family) | |
| 317 mental retardation, autosomal dominant 23 | |
| 317 mental retardation, autosomal dominant 24 | |
| 317 mental retardation, autosomal dominant 26 | |
| 317 mental retardation, autosomal dominant 27 | |
| 317 mental retardation, autosomal dominant 29 | |
| 317 mental retardation, autosomal dominant 3 | |
| 317 mental retardation, autosomal dominant 30 | |
| 317 mental retardation, autosomal dominant 31 | |
| 317 mental retardation, autosomal dominant 32 | |
| 317 mental retardation, autosomal dominant 33 | |
| 317 mental retardation, autosomal dominant 34 | |
| 317 mental retardation, autosomal dominant 35 | |
| 317 mental retardation, autosomal dominant 36 | |
| 317 mental retardation, autosomal dominant 37 | |
| 317 mental retardation, autosomal dominant 38 | |
| 317 mental retardation, autosomal dominant 39 | |
| 317 mental retardation, autosomal dominant 4 | |
| 317 mental retardation, autosomal dominant 40 | |
| 317 mental retardation, autosomal dominant 5 | |
| 317 mental retardation, autosomal dominant 6 | |
| 317 mental retardation, autosomal dominant 7 | |
| 317 mental retardation, autosomal dominant 8 | |
| 317 mental retardation, autosomal dominant 9 | |
| 318 bile acid synthesis defect, congenital, 1 | |
| 318 bile acid synthesis defect, congenital, 2 | |
| 318 bile acid synthesis defect, congenital, 3 | |
| 318 bile acid synthesis defect, congenital, 4 | |
| 318 bile acid synthesis defect, congenital, 5 (1 family) | |
| 319 lissencephaly 2 (norman-roberts type) | |
| 319 lissencephaly syndrome, norman-roberts type | |
| 320 chondroectodermal dysplasia | |
| 320 cranioectodermal dysplasia | |
| 320 cranioectodermal dysplasia 1 | |
| 320 cranioectodermal dysplasia 2 | |
| 320 cranioectodermal dysplasia 3 | |
| 320 cranioectodermal dysplasia 4 (1 family) | |
| 320 ectodermal dysplasia 2, clouston type | |
| 321 immunodeficiency-centromeric instability-facial anomalies syndrome 1 | |
| 321 immunodeficiency-centromeric instability-facial anomalies syndrome 2 | |
| 322 adult junctional epidermolysis bullosa | |
| 322 dominant dystrophic epidermolysis bullosa with absence of skin | |
| 322 epidermolysis bullosa dystrophica, ad, epidermolysis bullosa dystrophica, ar | |
| 322 epidermolysis bullosa dystrophica, autosomal dominant | |
| 322 epidermolysis bullosa dystrophica, autosomal recessive | |
| 322 epidermolysis bullosa dystrophica, autosomal recessive, localisata variant | |
| 322 epidermolysis bullosa dystrophica, autosomal recessive, modifier of | |
| 322 epidermolysis bullosa dystrophica, bart type | |
| 322 epidermolysis bullosa dystrophica inversa, autosomal recessive | |
| 322 epidermolysis bullosa, junctional, herlitz type | |
| 322 epidermolysis bullosa, junctional, localisata variant | |
| 322 epidermolysis bullosa, junctional, non-herlitz type | |
| 322 epidermolysis bullosa, junctional, non-herlitz type, somatic mosaic revertant | |
| 322 epidermolysis bullosa, junctional, with pyloric atresia | |
| 322 epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita | |
| 322 epidermolysis bullosa, nonspecific, autosomal recessive | |
| 322 epidermolysis bullosa, pretibial | |
| 322 epidermolysis bullosa, pretibial, autosomal recessive | |
| 322 epidermolysis bullosa pruriginosa, autosomal dominant | |
| 322 epidermolysis bullosa pruriginosa, autosomal recessive | |
| 322 epidermolysis bullosa simplex | |
| 322 epidermolysis bullosa simplex, autosomal recessive 1 | |
| 322 epidermolysis bullosa simplex, autosomal recessive 2 | |
| 322 epidermolysis bullosa simplex, dowling-meara type | |
| 322 epidermolysis bullosa simplex, dowling-meara type, with severe palmoplantar keratoderma | |
| 322 epidermolysis bullosa simplex, generalized | |
| 322 epidermolysis bullosa simplex, generalized, with severe palmoplantar keratosis | |
| 322 epidermolysis bullosa simplex, localized | |
| 322 epidermolysis bullosa simplex, ogna type | |
| 322 epidermolysis bullosa simplex with mottled pigmentation | |
| 322 epidermolysis bullosa simplex with muscular dystrophy | |
| 322 epidermolysis bullosa simplex with nail dystrophy (1 family) | |
| 322 epidermolysis bullosa simplex with pyloric atresia | |
| 322 epidermolysis bullosa with pyloric atresia | |
| 322 junctional epidermolysis bullosa | |
| 322 junctional epidermolysis bullosa gravis of herlitz | |
| 322 nephropathy with pretibial epidermolysis bullosa and deafness | |
| 322 recessive dystrophic epidermolysis bullosa | |
| 323 congenital secretory diarrhea, chloride type | |
| 323 diarrhea 1, secretory chloride, congenital | |
| 324 systemic lupus erythematosus 16 | |
| 324 systemic lupus erythematosus, association with susceptibility to, 10 | |
| 324 systemic lupus erythematosus, association with susceptibility to, 2 | |
| 324 systemic lupus erythematosus, resistance to, 1 | |
| 324 systemic lupus erythematosus, susceptibility to | |
| 324 systemic lupus erythematosus, susceptibility to, 10 | |
| 324 systemic lupus erythematosus, susceptibility to, 11; sleb11 | |
| 324 systemic lupus erythematosus, susceptibility to, 9 | |
| 325 lipodystrophy, congenital generalized, type 1 | |
| 325 lipodystrophy, congenital generalized, type 2 | |
| 325 lipodystrophy, congenital generalized, type 3 | |
| 325 lipodystrophy, congenital generalized, type 3 (1 family) | |
| 325 lipodystrophy, congenital generalized, type 4 | |
| 326 early t cell progenitor acute lymphoblastic leukemia | |
| 326 leukemia, acute lymphoblastic; all | |
| 326 leukemia, acute lymphoblastic, somatic | |
| 326 leukemia, acute lymphoblastic, susceptibility to, 3 | |
| 326 leukemia, t-cell acute lymphoblastic, somatic | |
| 326 lymphoblastic leukemia, acute, susceptibility to | |
| 326 t-cell acute lymphocytic leukemia, somatic | |
| 326 t-cell prolymphocytic leukemia, somatic | |
| 327 abo blood group system, a2 phenotype | |
| 327 abo blood group system, b(a) phenotype | |
| 327 abo blood group system, cis-ab phenotype | |
| 327 abo blood group system, o phenotype | |
| 327 cromer blood group system, inab phenotype | |
| 327 dombrock blood group system, do-null phenotype | |
| 327 duffy blood group system, fy(a-b-) phenotype | |
| 327 duffy blood group system, fy(bwk) phenotype | |
| 327 gerbich blood group system, duch phenotype | |
| 327 gerbich blood group system, gerbich phenotype | |
| 327 gerbich blood group system, webb phenotype | |
| 327 gerbich blood group system, yussef phenotype | |
| 327 junior blood group system, jr(a-) phenotype | |
| 327 langereis blood group system, lan(-) phenotype | |
| 327 lw blood group system, lw(a-b-) phenotype | |
| 327 p1pk blood group system, p(2) phenotype | |
| 327 p1pk blood group system, p(k) phenotype | |
| 327 p1pk blood group system, p phenotype | |
| 327 vel blood group system, vel-null phenotype | |
| 328 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | |
| 328 cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | |
| 329 peroxisomal biogenesis disorder 3a (zellweger) | |
| 329 peroxisomal biogenesis disorder 3b | |
| 329 peroxisome biogenesis disorder 10a (zellweger) | |
| 329 peroxisome biogenesis disorder 11a (zellweger) | |
| 329 peroxisome biogenesis disorder 11b | |
| 329 peroxisome biogenesis disorder 12a (zellweger) | |
| 329 peroxisome biogenesis disorder 13a (zellweger) | |
| 329 peroxisome biogenesis disorder 14b | |
| 329 peroxisome biogenesis disorder 1a (zellweger) | |
| 329 peroxisome biogenesis disorder 1b | |
| 329 peroxisome biogenesis disorder 1b (nald/ird) | |
| 329 peroxisome biogenesis disorder 2a (zellweger) | |
| 329 peroxisome biogenesis disorder 2b | |
| 329 peroxisome biogenesis disorder 4a | |
| 329 peroxisome biogenesis disorder 4a (zellweger) | |
| 329 peroxisome biogenesis disorder 4b | |
| 329 peroxisome biogenesis disorder 5a (zellweger) | |
| 329 peroxisome biogenesis disorder 5b | |
| 329 peroxisome biogenesis disorder 6a | |
| 329 peroxisome biogenesis disorder 6a (zellweger) | |
| 329 peroxisome biogenesis disorder 6b | |
| 329 peroxisome biogenesis disorder 7a (zellweger) | |
| 329 peroxisome biogenesis disorder 7b | |
| 329 peroxisome biogenesis disorder 8a (zellweger) | |
| 329 peroxisome biogenesis disorder 8b | |
| 329 peroxisome biogenesis disorder 9b | |
| 330 uric acid concentration, serum, quantitative trait locus 1 | |
| 330 uric acid concentration, serum, quantitative trait locus 2 | |
| 330 uric acid concentration, serum, quantitative trait locus 4 | |
| 331 idiopathic growth hormone deficiency | |
| 331 idiopathic growth hormone deficiency type ii | |
| 332 properdin deficiency, type i | |
| 332 properdin deficiency, type ii | |
| 332 properdin deficiency, type iii | |
| 333 premature ovarian failure 1 | |
| 333 premature ovarian failure 10 | |
| 333 premature ovarian failure 2a | |
| 333 premature ovarian failure 2b | |
| 333 premature ovarian failure 3 | |
| 333 premature ovarian failure 4 | |
| 333 premature ovarian failure 5 | |
| 333 premature ovarian failure 6 | |
| 333 premature ovarian failure 7 | |
| 333 premature ovarian failure 8 (1 family) | |
| 333 premature ovarian failure 9 | |
| 334 homocystinuria-megaloblastic anemia, cble complementation type | |
| 334 homocystinuria-megaloblastic anemia, cblg complementation type | |
| 335 polymicrogyria, asymmetric | |
| 335 polymicrogyria, symmetric | |
| 335 polymicrogyria, symmetric or asymmetric | |
| 336 thrombocytopenia | |
| 336 thrombocytopenia 2 | |
| 336 thrombocytopenia 2 (1 family) | |
| 336 thrombocytopenia 5 | |
| 336 thrombocytopenia, autosomal dominant, 4 | |
| 336 thrombocytopenia with beta-thalassemia, x-linked | |
| 336 thrombocytopenia, x-linked | |
| 336 thrombocytopenia, x-linked, 1 | |
| 336 thrombocytopenia, x-linked, intermittent | |
| 337 diamond-blackfan anemia | |
| 337 diamond-blackfan anemia 1 | |
| 337 diamond-blackfan anemia 10 | |
| 337 diamond-blackfan anemia 11 (1 family) | |
| 337 diamond-blackfan anemia 12 (1 patient) | |
| 337 diamond-blackfan anemia 13 | |
| 337 diamond-blackfan anemia 3 | |
| 337 diamond-blackfan anemia 4 | |
| 337 diamond-blackfan anemia 5 | |
| 337 diamond-blackfan anemia 6 | |
| 337 diamond-blackfan anemia 7 | |
| 337 diamond-blackfan anemia 8 | |
| 337 diamond-blackfan anemia 9 | |
| 338 cortical dysplasia, complex, with other brain malformations 1 | |
| 338 cortical dysplasia, complex, with other brain malformations 2 | |
| 338 cortical dysplasia, complex, with other brain malformations 3 | |
| 338 cortical dysplasia, complex, with other brain malformations 4 | |
| 338 cortical dysplasia, complex, with other brain malformations 5 | |
| 338 cortical dysplasia, complex, with other brain malformations 6 | |
| 339 high density lipoprotein deficiency | |
| 339 high density lipoprotein deficiency, detroit type | |
| 339 high density lipoprotein deficiency, type 2 | |
| 340 glanzmann's thrombasthenia | |
| 340 glanzmann thrombasthenia | |
| 341 renal hypodysplasia/aplasia 1 | |
| 341 renal hypodysplasia/aplasia 2 (1 family) | |
| 342 thanatophoric dysplasia | |
| 342 thanatophoric dysplasia, type i | |
| 342 thanatophoric dysplasia, type ii | |
| 343 frontonasal dysplasia 1 | |
| 343 frontonasal dysplasia 2 | |
| 343 frontonasal dysplasia 3 (1 family) | |
| 344 ataxia, sensory, 1, autosomal dominant | |
| 344 ataxia, sensory, autosomal dominant | |
| 344 spastic ataxia 1, autosomal dominant | |
| 345 familial cold autoinflammatory syndrome 1 | |
| 345 familial cold autoinflammatory syndrome 2 | |
| 345 familial cold autoinflammatory syndrome 3 | |
| 345 familial cold autoinflammatory syndrome 4 (1 family) | |
| 346 charcot-marie-tooth disease, type 1a, with focally folded myelin sheaths | |
| 346 charcot-marie-tooth disease, type 1b, with focally folded myelin sheaths | |
| 347 stickler syndrome | |
| 347 stickler syndrome type 1 | |
| 347 stickler syndrome, type i | |
| 347 stickler syndrome, type ii | |
| 347 stickler syndrome, type iii | |
| 347 stickler syndrome, type iv | |
| 347 stickler syndrome v (1 family) | |
| 348 brown-vialetto-van laere syndrome | |
| 348 brown-vialetto-van laere syndrome 1 | |
| 348 brown-vialetto-van laere syndrome 1, mild | |
| 348 brown-vialetto-van laere syndrome 2 | |
| 349 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| 349 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | |
| 349 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, somatic | |
| 349 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | |
| 350 immunoglobulin kappa light chain deficiency | |
| 350 immunoglobulin kappa light chain polymorphism inv1 | |
| 350 immunoglobulin kappa light chain polymorphism inv2 | |
| 350 immunoglobulin kappa light chain polymorphism inv3 | |
| 351 porokeratosis 3, disseminated superficial actinic type | |
| 351 porokeratosis 8, disseminated superficial actinic type | |
| 352 alkaline phosphatase, placental, allele-1 polymorphism | |
| 352 alkaline phosphatase, placental, allele-3 polymorphism | |
| 353 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | |
| 353 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | |
| 354 fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | |
| 354 maturity-onset diabetes of the young, type 1 | |
| 354 maturity-onset diabetes of the young, type 10 | |
| 354 maturity-onset diabetes of the young, type 11 | |
| 354 maturity-onset diabetes of the young, type 13 | |
| 354 maturity-onset diabetes of the young, type 14 | |
| 354 maturity-onset diabetes of the young, type 2 | |
| 354 maturity-onset diabetes of the young, type 3 | |
| 354 maturity-onset diabetes of the young, type 4 | |
| 354 maturity-onset diabetes of the young, type 6 | |
| 354 maturity-onset diabetes of the young, type 7 | |
| 354 maturity-onset diabetes of the young, type 8, with exocrine dysfunction | |
| 354 maturity-onset diabetes of the young, type 9 | |
| 354 maturity-onset diabetes of the young, type iv | |
| 355 cataract 10, congenital zonular, with sutural opacities | |
| 355 cataract 15, lamellar with sutural opacities | |
| 355 cataract, congenital zonular, with sutural opacities | |
| 356 coenzyme q10 deficiency, primary, 1 | |
| 356 coenzyme q10 deficiency, primary, 2 (1 family) | |
| 356 coenzyme q10 deficiency, primary, 3 (1 family) | |
| 356 coenzyme q10 deficiency, primary, 4 | |
| 356 coenzyme q10 deficiency, primary, 5 | |
| 356 coenzyme q10 deficiency, primary, 5 (1 patient) | |
| 356 coenzyme q10 deficiency, primary, 6 | |
| 356 coenzyme q10 deficiency, primary, 7 | |
| 357 smith mccort dysplasia | |
| 357 smith-mccort dysplasia 1 | |
| 357 smith-mccort dysplasia 2 | |
| 358 polydactyly, postaxial, type a6 (1 family) | |
| 358 polydactyly, preaxial ii | |
| 358 postaxial polydactyly, type a1 | |
| 358 postaxial polydactyly, type a1/b | |
| 358 postaxial polydactyly, type b | |
| 358 preaxial polydactyly, type iv | |
| 359 apparent mineralocorticoid excess | |
| 359 apparent mineralocorticoid excess, mild | |
| 360 acampomelic campomelic dysplasia | |
| 360 acampomelic campomelic dysplasia with autosomal sex reversal | |
| 360 campomelic dysplasia | |
| 360 campomelic dysplasia with autosomal sex reversal | |
| 361 otopalatodigital spectrum disorder | |
| 361 otopalatodigital spectrum disorders | |
| 362 multiple synostoses syndrome 1 | |
| 362 multiple synostoses syndrome 2 | |
| 362 multiple synostoses syndrome 3 (1 family) | |
| 363 autosomal dominant hypocalcemia | |
| 363 hypocalcemia, autosomal dominant 1 | |
| 363 hypocalcemia, autosomal dominant 1, with bartter syndrome | |
| 363 hypocalcemia, autosomal dominant 2 | |
| 364 surfactant metabolism dysfunction, pulmonary, 1 | |
| 364 surfactant metabolism dysfunction, pulmonary, 2 | |
| 364 surfactant metabolism dysfunction, pulmonary, 3 | |
| 364 surfactant metabolism dysfunction, pulmonary, 4 | |
| 364 surfactant metabolism dysfunction, pulmonary, 5 | |
| 365 hemoglobin buginese-x | |
| 365 hemoglobin o (buginese-x) | |
| 366 gaucher disease | |
| 366 gaucher disease, type i | |
| 366 gaucher disease, type ii | |
| 366 gaucher disease, type iii | |
| 366 gaucher disease, type iiic | |
| 366 gaucher's disease, type 1 | |
| 367 geleophysic dysplasia | |
| 367 geleophysic dysplasia 1 | |
| 367 geleophysic dysplasia 2 | |
| 368 hypoplastic left heart syndrome | |
| 368 hypoplastic left heart syndrome 1 | |
| 368 hypoplastic left heart syndrome 2 | |
| 369 jervell and lange-nielsen syndrome | |
| 369 jervell and lange-nielsen syndrome 1 | |
| 369 jervell and lange-nielsen syndrome 2 | |
| 369 jervell and lange-nielsen syndrome, long qt syndrome 1 | |
| 369 kcnq1-related jervell and lange-nielsen syndrome | |
| 370 morbid obesity and spermatogenic failure (1 family) | |
| 370 spermatogenic failure 10, susceptibility to | |
| 370 spermatogenic failure 11 | |
| 370 spermatogenic failure 12 | |
| 370 spermatogenic failure 13 (1 family) | |
| 370 spermatogenic failure 14 (1 family) | |
| 370 spermatogenic failure 3 | |
| 370 spermatogenic failure 4 | |
| 370 spermatogenic failure 5 | |
| 370 spermatogenic failure 6 (1 family) | |
| 370 spermatogenic failure 7 | |
| 370 spermatogenic failure 8 | |
| 370 spermatogenic failure 9 | |
| 370 spermatogenic failure, susceptibility to | |
| 370 spermatogenic failure, x-linked, 2 | |
| 371 nephrolithiasis/osteoporosis, hypophosphatemic, 1 | |
| 371 nephrolithiasis/osteoporosis, hypophosphatemic, 2 | |
| 372 hemoglobin providence | |
| 372 hemoglobin s (providence) | |
| 373 hemoglobin gothenburg | |
| 373 hemoglobin m (gothenburg) | |
| 373 hemoglobin m (oldenburg) | |
| 374 autosomal recessive woolly hair | |
| 374 woolly hair, autosomal recessive 1 | |
| 374 woolly hair, autosomal recessive 1, with or without hypotrichosis | |
| 374 woolly hair, autosomal recessive 2, with or without hypotrichosis | |
| 375 arterial calcification, generalized, of infancy, 1 | |
| 375 arterial calcification, generalized, of infancy, 2 | |
| 375 arterial calcification of infancy | |
| 376 arthrogryposis, renal dysfunction, and cholestasis 1 | |
| 376 arthrogryposis, renal dysfunction, and cholestasis 2 | |
| 377 mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 3 (1 patient) | |
| 377 mitochondrial myopathy with lactic acidosis (1 family) | |
| 377 myopathy, lactic acidosis, and sideroblastic anemia 1 | |
| 377 myopathy, lactic acidosis, and sideroblastic anemia 2 | |
| 378 pituitary adenoma, acth-secreting | |
| 378 pituitary adenoma, acth-secreting, somatic | |
| 378 pituitary adenoma, growth hormone-secreting, 1 | |
| 378 pituitary adenoma, growth hormone-secreting 2 | |
| 378 pituitary adenoma, prolactin-secreting | |
| 378 pituitary tumor, growth hormone-secreting, somatic | |
| 379 carnitine palmitoyltransferase ia deficiency | |
| 379 carnitine palmitoyltransferase i deficiency | |
| 379 carnitine palmitoyltransferase ii deficiency | |
| 379 carnitine palmitoyltransferase ii deficiency, infantile | |
| 379 carnitine palmitoyltransferase ii deficiency, late-onset | |
| 379 carnitine palmitoyltransferase ii deficiency, lethal neonatal | |
| 380 cataract 14, coppock-like | |
| 380 cataract 2, coppock-like | |
| 380 cataract, coppock-like | |
| 381 cholestasis, benign recurrent intrahepatic 1 | |
| 381 cholestasis, benign recurrent intrahepatic 2 | |
| 382 cardio-facio-cutaneous syndrome | |
| 382 cardiofaciocutaneous syndrome | |
| 382 cardiofaciocutaneous syndrome 1 | |
| 382 cardiofaciocutaneous syndrome 2 | |
| 382 cardiofaciocutaneous syndrome 3 | |
| 382 cardiofaciocutaneous syndrome 4 | |
| 383 fetal hemoglobin quantitative trait locus 2 | |
| 383 fetal hemoglobin quantitative trait locus 5 | |
| 383 fetal hemoglobin quantitative trait locus 6 | |
| 384 congenital diaphragmatic hernia | |
| 384 diaphragmatic hernia 3 | |
| 385 hemoglobin f (koelliker) | |
| 385 hemoglobin koelliker | |
| 386 anemia, hypochromic microcytic, with iron overload | |
| 386 anemia, hypochromic microcytic, with iron overload 2 (1 family) | |
| 387 amyloidosis, familial visceral | |
| 387 amyloidosis, familial visceral (1 family) | |
| 388 lethal congenital contracture syndrome 1 | |
| 388 lethal congenital contracture syndrome 2 | |
| 388 lethal congenital contracture syndrome 3 | |
| 388 lethal congenital contracture syndrome 4 | |
| 388 lethal congenital contracture syndrome 5 (1 family) | |
| 388 lethal congenital contracture syndrome 6 (1 family) | |
| 388 lethal congenital contracture syndrome 7 | |
| 388 lethal congenital contracture syndrome 8 (1 family) | |
| 388 lethal congenital contracture syndrome 9 | |
| 388 lethal tight skin contracture syndrome | |
| 389 hemoglobin yukuhashi | |
| 389 hemoglobin yukuhashi-2 | |
| 390 schwannomatosis 1 | |
| 390 schwannomatosis 1, somatic | |
| 390 schwannomatosis 2 | |
| 390 schwannomatosis, somatic | |
| 391 vitamin d hydroxylation-deficient rickets, type 1a | |
| 391 vitamin d hydroxylation-deficient rickets, type 1b | |
| 392 microcephaly and chorioretinopathy, autosomal recessive, 1 | |
| 392 microcephaly and chorioretinopathy, autosomal recessive, 2 | |
| 392 microcephaly and chorioretinopathy, autosomal recessive, 3 | |
| 392 microcephaly and chorioretinopathy with or without mental retardation | |
| 392 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | |
| 393 diamond-blackfan anemia, 14, with mandibulofacial dysostosis (1 family) | |
| 393 diamond-blackfan anemia 15 with mandibulofacial dysostosis | |
| 394 deafness, autosomal dominant 1 | |
| 394 deafness, autosomal dominant 10 | |
| 394 deafness, autosomal dominant 11 | |
| 394 deafness, autosomal dominant 12 | |
| 394 deafness, autosomal dominant 13 | |
| 394 deafness, autosomal dominant 15 | |
| 394 deafness, autosomal dominant 17 | |
| 394 deafness, autosomal dominant 20 | |
| 394 deafness, autosomal dominant 20/26 | |
| 394 deafness, autosomal dominant 22 | |
| 394 deafness, autosomal dominant 23 | |
| 394 deafness, autosomal dominant 25 | |
| 394 deafness, autosomal dominant 28 | |
| 394 deafness, autosomal dominant 2a | |
| 394 deafness, autosomal dominant 2b | |
| 394 deafness, autosomal dominant 36 | |
| 394 deafness, autosomal dominant 3a | |
| 394 deafness, autosomal dominant 3b | |
| 394 deafness, autosomal dominant 3b (1 family) | |
| 394 deafness, autosomal dominant 4 | |
| 394 deafness, autosomal dominant 40 | |
| 394 deafness, autosomal dominant 41 | |
| 394 deafness, autosomal dominant 44 (1 family) | |
| 394 deafness, autosomal dominant 4a | |
| 394 deafness, autosomal dominant 4b (1 family) | |
| 394 deafness, autosomal dominant 5 | |
| 394 deafness, autosomal dominant 50 | |
| 394 deafness, autosomal dominant 56 | |
| 394 deafness, autosomal dominant 6 | |
| 394 deafness, autosomal dominant 6/14/38 | |
| 394 deafness, autosomal dominant 64 | |
| 394 deafness, autosomal dominant 65 | |
| 394 deafness, autosomal dominant 67 | |
| 394 deafness, autosomal dominant 68 (1 family) | |
| 394 deafness, autosomal dominant 8/12 | |
| 394 deafness, autosomal dominant 9 | |
| 395 fibrochondrogenesis | |
| 395 fibrochondrogenesis 2 | |
| 395 hypochondrogenesis | |
| 396 cutis laxa, autosomal dominant | |
| 396 cutis laxa, autosomal dominant 1 | |
| 396 cutis laxa, autosomal dominant 2 | |
| 396 cutis laxa, autosomal dominant 3 | |
| 397 amyloidosis, primary localized cutaneous, 1 | |
| 397 amyloidosis, primary localized cutaneous, 2 | |
| 398 pigmented nodular adrenocortical disease, primary, 1 | |
| 398 pigmented nodular adrenocortical disease, primary, 2 | |
| 398 pigmented nodular adrenocortical disease, primary, 3 | |
| 398 pigmented nodular adrenocortical disease, primary, 4 | |
| 399 cataract 14, nuclear pulverulent | |
| 399 cataract 14, nuclear pulverulent and posterior polar | |
| 399 cataract 14, zonular pulverulent | |
| 399 cataract 17, pulverulent | |
| 399 cataract 1, zonular pulverulent | |
| 399 cataract 2, zonular pulverulent | |
| 399 cataract 30, pulverulent (1 patient) | |
| 400 deafness, x-linked 1 | |
| 400 deafness, x-linked 2 | |
| 400 deafness, x-linked 4 | |
| 400 deafness, x-linked 5 | |
| 400 deafness, x-linked 6 (1 family) | |
| 401 invasive pneumococcal disease, recurrent isolated, 1 | |
| 401 invasive pneumococcal disease, recurrent isolated, 2 | |
| 402 hyperparathyroidism | |
| 402 hyperparathyroidism 1 | |
| 402 hyperparathyroidism 2 | |
| 402 hyperparathyroidism, familial isolated primary | |
| 402 hyperparathyroidism-jaw tumor syndrome | |
| 402 hyperparathyroidism, neonatal severe | |
| 402 hyperparathyroidism, primary | |
| 402 hypoparathyroidism, familial isolated | |
| 403 factor xiii, a subunit, deficiency of | |
| 403 factor xiii, b subunit, deficiency of | |
| 404 corticosterone methyloxidase type i deficiency | |
| 404 corticosterone methyloxidase type ii deficiency | |
| 405 basal ganglia calcification, idiopathic, 1 | |
| 405 basal ganglia calcification, idiopathic, 4 | |
| 405 basal ganglia calcification, idiopathic, 5 | |
| 405 basal ganglia calcification, idiopathic, 6 | |
| 406 bronchiectasis with or without elevated sweat chloride 1 | |
| 406 bronchiectasis with or without elevated sweat chloride 1, modifier of | |
| 406 bronchiectasis with or without elevated sweat chloride 2 | |
| 406 bronchiectasis with or without elevated sweat chloride 3 | |
| 407 reclassified - variant of unknown signficance | |
| 407 reclassified - variant of unknown significance | |
| 407 variant of unknown signficance | |
| 407 variant of unknown significance | |
| 407 variant of unknown significance (1 patient) | |
| 408 corneal dystrophy, polymorphous posterior, 2 | |
| 408 corneal dystrophy, posterior polymorphous, 1 | |
| 408 corneal dystrophy, posterior polymorphous, 3 | |
| 409 linear skin defects with multiple congenital anomalies 1 | |
| 409 linear skin defects with multiple congenital anomalies 2 | |
| 409 linear skin defects with multiple congenital anomalies 3 | |
| 410 herpes simplex encephalitis, susceptibility to, 1 | |
| 410 herpes simplex encephalitis, susceptibility to, 2 | |
| 410 herpes simplex encephalitis, susceptibility to, 3 (1 patient) | |
| 410 herpes simplex encephalitis, susceptibility to, 4 | |
| 410 herpes simplex encephalitis, susceptibility to, 7 (1 patient) | |
| 411 hemoglobin memphis | |
| 411 hemoglobin n (memphis) | |
| 412 leukocyte adhesion deficiency | |
| 412 leukocyte adhesion deficiency type 1 | |
| 412 leukocyte adhesion deficiency, type iii | |
| 413 skin/hair/eye pigmentation 10, blond/brown hair | |
| 413 skin/hair/eye pigmentation 1, blue/nonblue eyes | |
| 413 skin/hair/eye pigmentation 2, blond hair/fair skin | |
| 413 skin/hair/eye pigmentation 2, red hair/fair skin | |
| 413 skin/hair/eye pigmentation 3, blue/green eyes | |
| 413 skin/hair/eye pigmentation 3, light/dark skin | |
| 413 skin/hair/eye pigmentation 4, fair/dark skin | |
| 413 skin/hair/eye pigmentation 5, black/nonblack hair | |
| 413 skin/hair/eye pigmentation 6, blond/brown hair | |
| 413 skin/hair/eye pigmentation 7, blond/brown hair | |
| 413 skin/hair/eye pigmentation 7, dark/light skin | |
| 413 skin/hair/eye pigmentation 8, brown hair | |
| 413 skin/hair/eye pigmentation 9, dark/light hair | |
| 413 skin/hair/eye pigmentation, variation in, 4 | |
| 414 trichohepatoenteric syndrome | |
| 414 trichohepatoenteric syndrome 1 | |
| 414 trichohepatoenteric syndrome 2 | |
| 415 otofaciocervical syndrome 1 | |
| 415 otofaciocervical syndrome 2 (1 family) | |
| 416 arts syndrome and phosphoribosylpyrophosphate synthetase superactivity | |
| 416 phosphoribosylpyrophosphate synthetase superactivity | |
| 417 tibia, hypoplasia of, with polydactyly | |
| 417 tibia, hypoplasia or aplasia of, with polydactyly | |
| 418 vitamin k-dependent clotting factors, combined deficiency of, 1 | |
| 418 vitamin k-dependent clotting factors, combined deficiency of, 2 | |
| 419 microvascular complications of diabetes, susceptibility to, 1 | |
| 419 microvascular complications of diabetes, susceptibility to, 2 | |
| 419 microvascular complications of diabetes, susceptibility to, 3 | |
| 419 microvascular complications of diabetes, susceptibility to, 4 | |
| 419 microvascular complications of diabetes, susceptibility to, 5 | |
| 419 microvascular complications of diabetes, susceptibility to, 6 | |
| 419 microvascular complications of diabetes, susceptibility to, 7 | |
| 420 encephalopathy, acute, infection-induced, 3, suceptibility to | |
| 420 encephalopathy, acute, infection-induced, susceptibility to, 3 | |
| 420 encephalopathy, acute, infection-induced, susceptibility to, 4 | |
| 421 maple syrup urine disease | |
| 421 maple syrup urine disease, classic, type ia | |
| 421 maple syrup urine disease, classic, type ib | |
| 421 maple syrup urine disease, classic, type ii | |
| 421 maple syrup urine disease, intermediate, type ia | |
| 421 maple syrup urine disease, intermediate, type ii | |
| 421 maple syrup urine disease, mild variant (1 family) | |
| 421 maple syrup urine disease, type 3 | |
| 421 maple syrup urine disease, type ib | |
| 421 maple syrup urine disease, type ii | |
| 422 tuberous sclerosis | |
| 422 tuberous sclerosis 1 | |
| 422 tuberous sclerosis 2 | |
| 423 oral-facial-digital syndrome | |
| 423 oral-facial-digital syndrome 1 | |
| 423 oral-facial-digital syndrome type i | |
| 423 orofacial-digital syndrome iv | |
| 423 orofaciodigital syndrome i | |
| 423 orofaciodigital syndrome iv | |
| 423 orofaciodigital syndrome v | |
| 423 orofaciodigital syndrome vi | |
| 423 orofaciodigital syndrome xiv | |
| 424 nemaline myopathy | |
| 424 nemaline myopathy 1 | |
| 424 nemaline myopathy 10 | |
| 424 nemaline myopathy 2 | |
| 424 nemaline myopathy 2, autosomal recessive | |
| 424 nemaline myopathy 3 | |
| 424 nemaline myopathy 3, autosomal dominant or recessive | |
| 424 nemaline myopathy 4 | |
| 424 nemaline myopathy 5 | |
| 424 nemaline myopathy 6 | |
| 424 nemaline myopathy 7 | |
| 424 nemaline myopathy 8 | |
| 424 nemaline myopathy 9 | |
| 425 persistent mullerian duct syndrome, type i | |
| 425 persistent mullerian duct syndrome, type ii | |
| 426 g6pd taiwan-hakka | |
| 426 g6pd taiwan-hakka 2 | |
| 427 corneal dystrophy, lattice type i | |
| 427 corneal dystrophy, lattice type iiia | |
| 427 macular corneal dystrophy, type i | |
| 427 macular corneal dystrophy, type ii | |
| 428 apolipoprotein a-i (baltimore) | |
| 428 apolipoprotein a-i deficiency | |
| 428 apolipoprotein a-i (giessen) | |
| 428 apolipoprotein a-i (marburg) | |
| 428 apolipoprotein a-i (milano) | |
| 428 apolipoprotein a-i (munster3b) | |
| 428 apolipoprotein a-i (munster3c) | |
| 428 apolipoprotein a-i (munster4) | |
| 428 apolipoprotein a-i (norway) | |
| 428 apolipoprotein a-iv rare variant, apoa4*0 | |
| 428 apolipoprotein a-iv rare variant, apoa4*3 | |
| 428 apolipoprotein a-iv rare variant, apoa4*5 | |
| 428 apolipoprotein c-ii (african) | |
| 428 apolipoprotein c-ii (auckland) | |
| 428 apolipoprotein c-ii (bari) | |
| 428 apolipoprotein c-ii (hamburg) | |
| 428 apolipoprotein c-iii deficiency | |
| 428 apolipoprotein c-iii, nonglycosylated | |
| 428 apolipoprotein c-ii (nijmegen) | |
| 428 apolipoprotein c-ii (padova) | |
| 428 apolipoprotein c-ii (paris) | |
| 428 apolipoprotein c-ii (san francisco) | |
| 428 apolipoprotein c-ii (st. michael) | |
| 428 apolipoprotein c-ii (toronto) | |
| 428 apolipoprotein c-ii variant | |
| 428 apolipoprotein c-ii (wakayama) | |
| 428 apolipoproteins a-i and c-iii, combined deficiency of | |
| 429 cerebral palsy, spastic quadriplegic, 1 (1 family) | |
| 429 cerebral palsy, spastic quadriplegic, 2 | |
| 430 hyperuricemic nephropathy, familial juvenile, 1 | |
| 430 hyperuricemic nephropathy, familial juvenile, 2 | |
| 431 pseudohypoaldosteronism, type 2 | |
| 431 pseudohypoaldosteronism, type i, autosomal dominant | |
| 431 pseudohypoaldosteronism, type i, autosomal recessive | |
| 431 pseudohypoaldosteronism, type iib | |
| 431 pseudohypoaldosteronism, type iic | |
| 431 pseudohypoaldosteronism, type iid, autosomal dominant | |
| 431 pseudohypoaldosteronism, type iid, autosomal dominant or recessive | |
| 431 pseudohypoaldosteronism, type iid, autosomal recessive | |
| 431 pseudohypoaldosteronism, type iie | |
| 432 paroxysmal nocturnal hemoglobinuria | |
| 432 paroxysmal nocturnal hemoglobinuria 2, susceptibility to (1 family) | |
| 433 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | |
| 433 severe combined immunodeficiency with sensitivity to ionizing radiation | |
| 433 severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency | |
| 434 bethlem myopathy | |
| 434 bethlem myopathy 1 | |
| 434 bethlem myopathy 1, autosomal recessive | |
| 434 bethlem myopathy 2 | |
| 435 adolescent nephronophthisis | |
| 435 infantile nephronophthisis | |
| 435 nephronophthisis | |
| 435 nephronophthisis 1 | |
| 435 nephronophthisis 11 | |
| 435 nephronophthisis 12 | |
| 435 nephronophthisis 13 | |
| 435 nephronophthisis 14 | |
| 435 nephronophthisis 15 | |
| 435 nephronophthisis 16 | |
| 435 nephronophthisis 18 | |
| 435 nephronophthisis 19 | |
| 435 nephronophthisis 2 | |
| 435 nephronophthisis 3 | |
| 435 nephronophthisis 4 | |
| 435 nephronophthisis 7 | |
| 435 nephronophthisis 9 | |
| 435 nephronophthisis-like nephropathy 1 | |
| 436 trichothiodystrophy 1, photosensitive | |
| 436 trichothiodystrophy 2, photosensitive | |
| 436 trichothiodystrophy 3, photosensitive | |
| 436 trichothiodystrophy 4, nonphotosensitive | |
| 436 trichothiodystrophy 5, nonphotosensitive (1 family) | |
| 437 rubinstein-taybi syndrome | |
| 437 rubinstein-taybi syndrome 1 | |
| 437 rubinstein-taybi syndrome 1, incomplete | |
| 437 rubinstein-taybi syndrome 2 | |
| 438 early onset focal segmental glomerulosclerosis | |
| 438 focal segmental glomerulosclerosis 1 | |
| 438 focal segmental glomerulosclerosis 2 | |
| 438 focal segmental glomerulosclerosis 3 | |
| 438 focal segmental glomerulosclerosis 4, susceptibility to | |
| 438 focal segmental glomerulosclerosis 5 | |
| 438 focal segmental glomerulosclerosis 6 | |
| 438 focal segmental glomerulosclerosis 7 | |
| 438 focal segmental glomerulosclerosis 8 | |
| 438 focal segmental glomerulosclerosis 9 | |
| 438 focal segmental glomerulosclerosis and dilated cardiomyopathy | |
| 439 bleeding disorder, platelet-type, 11 | |
| 439 bleeding disorder, platelet-type, 13, susceptibility to | |
| 439 bleeding disorder, platelet-type, 15 | |
| 439 bleeding disorder, platelet-type, 16 | |
| 439 bleeding disorder, platelet-type, 17 | |
| 439 bleeding disorder, platelet-type, 18 (1 family) | |
| 439 bleeding disorder, platelet-type, 19 (1 family) | |
| 439 bleeding disorder, platelet-type, 8 | |
| 440 craniosynostosis | |
| 440 craniosynostosis 1 | |
| 440 craniosynostosis 2 | |
| 440 craniosynostosis 3 | |
| 440 craniosynostosis 4 | |
| 440 craniosynostosis 5, susceptibility to | |
| 441 peptide transporter psf1 polymorphism | |
| 441 peptide transporter psf2 polymorphism | |
| 442 brachydactyly-syndactyly syndrome (1 family) | |
| 442 brachydactyly, type a1 | |
| 442 brachydactyly, type a1, c | |
| 442 brachydactyly, type a2 | |
| 442 brachydactyly, type b1 | |
| 442 brachydactyly, type b2 | |
| 442 brachydactyly, type c | |
| 442 brachydactyly, type d | |
| 442 brachydactyly, type e | |
| 442 brachydactyly, type e2 | |
| 443 robinow syndrome, autosomal dominant | |
| 443 robinow syndrome, autosomal dominant 1 | |
| 443 robinow syndrome, autosomal dominant 2 | |
| 444 hermansky-pudlak syndrome | |
| 444 hermansky-pudlak syndrome 1 | |
| 444 hermansky-pudlak syndrome 2 | |
| 444 hermansky-pudlak syndrome 3 | |
| 444 hermansky-pudlak syndrome 4 | |
| 444 hermansky-pudlak syndrome 5 | |
| 444 hermansky-pudlak syndrome 6 | |
| 444 hermansky-pudlak syndrome 7 | |
| 444 hermansky-pudlak syndrome 8 | |
| 444 hermansky-pudlak syndrome 9 | |
| 445 acquired long qt syndrome | |
| 445 kcnq1-related acquired long qt syndrome | |
| 445 long qt syndrome 1, acquired, susceptibility to | |
| 445 long qt syndrome 2, acquired, reduced susceptibility to | |
| 445 long qt syndrome 2, acquired, susceptibility to | |
| 445 long qt syndrome 3, acquired, susceptibility to | |
| 445 long qt syndrome 5, acquired, susceptibility to | |
| 445 long qt syndrome 6, acquired, susceptibility to | |
| 445 long qt syndrome 9, acquired, susceptibility to | |
| 446 congenital disorder of deglycosylation | |
| 446 congenital disorder of glycosylation type 1b | |
| 446 congenital disorder of glycosylation type 1k | |
| 446 congenital disorder of glycosylation type 1q | |
| 446 congenital disorder of glycosylation type 1v | |
| 446 congenital disorder of glycosylation type 1y | |
| 446 congenital disorder of glycosylation type 2c | |
| 446 congenital disorder of glycosylation type 2e | |
| 446 congenital disorder of glycosylation type 2j | |
| 446 congenital disorder of glycosylation type 2l | |
| 446 congenital disorder of glycosylation, type ia | |
| 446 congenital disorder of glycosylation, type ib | |
| 446 congenital disorder of glycosylation, type ic | |
| 446 congenital disorder of glycosylation, type id | |
| 446 congenital disorder of glycosylation, type ie | |
| 446 congenital disorder of glycosylation, type if | |
| 446 congenital disorder of glycosylation, type ig | |
| 446 congenital disorder of glycosylation, type ih | |
| 446 congenital disorder of glycosylation, type ii (1 patient) | |
| 446 congenital disorder of glycosylation, type iia | |
| 446 congenital disorder of glycosylation, type iib | |
| 446 congenital disorder of glycosylation, type iic | |
| 446 congenital disorder of glycosylation, type iid | |
| 446 congenital disorder of glycosylation, type iie | |
| 446 congenital disorder of glycosylation, type iif | |
| 446 congenital disorder of glycosylation, type iif, modifier of | |
| 446 congenital disorder of glycosylation, type iig | |
| 446 congenital disorder of glycosylation, type iih | |
| 446 congenital disorder of glycosylation, type iii | |
| 446 congenital disorder of glycosylation, type iij | |
| 446 congenital disorder of glycosylation, type iik | |
| 446 congenital disorder of glycosylation, type iil | |
| 446 congenital disorder of glycosylation, type iim | |
| 446 congenital disorder of glycosylation, type iim, somatic mosaic | |
| 446 congenital disorder of glycosylation, type iin | |
| 446 congenital disorder of glycosylation, type ij | |
| 446 congenital disorder of glycosylation, type ik | |
| 446 congenital disorder of glycosylation, type il | |
| 446 congenital disorder of glycosylation, type im | |
| 446 congenital disorder of glycosylation, type in | |
| 446 congenital disorder of glycosylation, type io | |
| 446 congenital disorder of glycosylation, type ip | |
| 446 congenital disorder of glycosylation, type iq | |
| 446 congenital disorder of glycosylation, type ir (1 family) | |
| 446 congenital disorder of glycosylation, type is | |
| 446 congenital disorder of glycosylation, type it | |
| 446 congenital disorder of glycosylation, type iu | |
| 446 congenital disorder of glycosylation, type iw (1 family) | |
| 446 congenital disorder of glycosylation, type ix (1 patient) | |
| 446 congenital disorder of glycosylation, type iy (1 patient) | |
| 446 congenital disorder of glycosylation, type iz (1 family) | |
| 446 congenital order of glycosylation type 1r | |
| 447 hemoglobin stanleyville-i | |
| 447 hemoglobin stanleyville-ii | |
| 448 alternating hemiplegia of childhood 1 | |
| 448 alternating hemiplegia of childhood 2 | |
| 449 colobomatous microphthalmia | |
| 449 microphthalmia, isolated 2 | |
| 449 microphthalmia, isolated 3 | |
| 449 microphthalmia, isolated 4 | |
| 449 microphthalmia, isolated 5 | |
| 449 microphthalmia, isolated 6 | |
| 449 microphthalmia, isolated 7 | |
| 449 microphthalmia, isolated 8 | |
| 449 microphthalmia, isolated, with coloboma 10 | |
| 449 microphthalmia, isolated, with coloboma 3 | |
| 449 microphthalmia, isolated, with coloboma 5 | |
| 449 microphthalmia, isolated, with coloboma 6 | |
| 449 microphthalmia, isolated, with coloboma 7 | |
| 449 microphthalmia, isolated, with coloboma 8 | |
| 449 microphthalmia, isolated, with coloboma 9 | |
| 450 epilepsy, generalized idiopathic, susceptibility to, 9 | |
| 450 epilepsy, idiopathic generalized, susceptibility to, 10 | |
| 450 epilepsy, idiopathic generalized, susceptibility to, 11 | |
| 450 epilepsy, idiopathic generalized, susceptibility to, 12 | |
| 450 epilepsy, idiopathic generalized, susceptibility to, 13 | |
| 450 epilepsy, idiopathic generalized, susceptibility to, 14 | |
| 450 epilepsy, idiopathic generalized, susceptibility to, 6 | |
| 450 epilepsy, idiopathic generalized, susceptibility to, 8 | |
| 451 esophageal cancer, somatic | |
| 451 esophageal carcinoma, somatic | |
| 451 esophageal squamous cell carcinoma, somatic | |
| 451 nasopharyngeal carcinoma, somatic | |
| 451 oesophageal carcinoma | |
| 451 squamous cell carcinoma, head and neck | |
| 451 squamous cell carcinoma, head and neck, somatic | |
| 451 squamous cell carcinoma of the head and neck | |
| 452 hypothyroidism, athyroidal, with spiky hair and cleft palate | |
| 452 hypothyroidism, thyroidal, with spiky hair and cleft palate | |
| 453 platyspondylic lethal skeletal dysplasia torrance type | |
| 453 platyspondylic skeletal dysplasia, torrance type | |
| 454 hypotrichosis 1 | |
| 454 hypotrichosis 11 | |
| 454 hypotrichosis 12 | |
| 454 hypotrichosis 13 (1 family) | |
| 454 hypotrichosis 2 | |
| 454 hypotrichosis 3 (1 family) | |
| 454 hypotrichosis 4 | |
| 454 hypotrichosis 6 | |
| 454 hypotrichosis 7 | |
| 454 hypotrichosis 8 | |
| 455 leber congenital amaurosis | |
| 455 leber congenital amaurosis 1 | |
| 455 leber congenital amaurosis 10 | |
| 455 leber congenital amaurosis 11 | |
| 455 leber congenital amaurosis 12 | |
| 455 leber congenital amaurosis 13 | |
| 455 leber congenital amaurosis 14 | |
| 455 leber congenital amaurosis 15 | |
| 455 leber congenital amaurosis 16 | |
| 455 leber congenital amaurosis 17 | |
| 455 leber congenital amaurosis 18 | |
| 455 leber congenital amaurosis 2 | |
| 455 leber congenital amaurosis 3 | |
| 455 leber congenital amaurosis 4 | |
| 455 leber congenital amaurosis 5 | |
| 455 leber congenital amaurosis 6 | |
| 455 leber congenital amaurosis 7 | |
| 455 leber congenital amaurosis 8 | |
| 455 leber congenital amaurosis 9 | |
| 455 leber's amaurosis | |
| 456 hemoglobin f (macedonia-i) | |
| 456 hemoglobin f (macedonia ii) | |
| 457 chilblain lupus | |
| 457 chilblain lupus 2 | |
| 458 cavernous malformations of cns and retina | |
| 458 cerebral cavernous malformations 1 | |
| 458 cerebral cavernous malformations 2 | |
| 458 cerebral cavernous malformations 3 | |
| 459 thrombophilia due to protein c deficiency, autosomal dominant | |
| 459 thrombophilia due to protein c deficiency, autosomal recessive | |
| 459 thrombophilia due to protein s deficiency, autosomal dominant | |
| 459 thrombophilia due to protein s deficiency, autosomal recessive | |
| 459 thrombophilia, hereditary, due to protein c deficiency, autosomal dominant | |
| 460 leydig cell hypoplasia, type i | |
| 460 leydig cell hypoplasia, type ii | |
| 460 leydig hypoplasia, type i | |
| 461 congenital anomalies of kidney and urinary tract 2 | |
| 461 congenital anomalies of kidney and urinary tract, susceptibility to, 1 | |
| 462 congenital bilateral absence of the vas deferens | |
| 462 vas deferens, congenital bilateral absence of | |
| 463 arthrogryposis, distal, type 1 | |
| 463 arthrogryposis, distal, type 1b | |
| 463 arthrogryposis, distal, type 2a | |
| 463 arthrogryposis, distal, type 2b | |
| 463 arthrogryposis, distal, type 3 | |
| 463 arthrogryposis, distal, type 5 | |
| 463 arthrogryposis, distal, type 5d | |
| 463 arthrogryposis, distal, type 8 | |
| 463 arthrogryposis multiplex congenita | |
| 463 arthrogryposis multiplex congenita, distal, type 2b | |
| 463 arthyrgryposis, distal, type 2b | |
| 464 lymphedema, hereditary, i | |
| 464 lymphedema, hereditary, ia | |
| 464 lymphedema, hereditary, ic | |
| 464 lymphedema, hereditary, id | |
| 465 bardet-biedl syndrome | |
| 465 bardet-biedl syndrome 1 | |
| 465 bardet-biedl syndrome 10 | |
| 465 bardet-biedl syndrome 1/10, digenic | |
| 465 bardet-biedl syndrome 11 (1 family) | |
| 465 bardet-biedl syndrome 12 | |
| 465 bardet-biedl syndrome 1/2, digenic | |
| 465 bardet-biedl syndrome 12, modifier of | |
| 465 bardet-biedl syndrome 13 | |
| 465 bardet-biedl syndrome 14 (1 patient) | |
| 465 bardet-biedl syndrome 14, modifier of | |
| 465 bardet-biedl syndrome 15 (1 patient) | |
| 465 bardet-biedl syndrome 16 | |
| 465 bardet-biedl syndrome 17 | |
| 465 bardet-biedl syndrome 1/7, digenic | |
| 465 bardet-biedl syndrome 18 (1 family) | |
| 465 bardet-biedl syndrome 19 (1 family) | |
| 465 bardet-biedl syndrome 1, modifier of | |
| 465 bardet-biedl syndrome 2 | |
| 465 bardet-biedl syndrome 2/4, digenic | |
| 465 bardet-biedl syndrome 2/6, digenic | |
| 465 bardet-biedl syndrome 3 | |
| 465 bardet-biedl syndrome 4 | |
| 465 bardet-biedl syndrome 5 | |
| 465 bardet-biedl syndrome 6 | |
| 465 bardet-biedl syndrome 6/10, digenic | |
| 465 bardet-biedl syndrome 7 | |
| 465 bardet-biedl syndrome 8 | |
| 465 bardet-biedl syndrome 9 | |
| 466 peeling skin syndrome 1 | |
| 466 peeling skin syndrome 2 | |
| 466 peeling skin syndrome 3 (1 family) | |
| 466 peeling skin syndrome 4 | |
| 467 rhabdoid tumor predisposition syndrome 1 | |
| 467 rhabdoid tumor predisposition syndrome 2 | |
| 467 tumor predisposition syndrome | |
| 468 erythrocytosis | |
| 468 erythrocytosis, familial, 1 | |
| 468 erythrocytosis, familial, 2 | |
| 468 erythrocytosis, familial, 3 | |
| 468 erythrocytosis, familial, 4 | |
| 468 erythrocytosis, jak2-related, somatic | |
| 468 erythrocytosis, somatic | |
| 469 fanconi anemia | |
| 469 fanconi's anemia | |
| 470 macular dystrophy, vitelliform, 2 | |
| 470 macular dystrophy, vitelliform, 3 | |
| 470 macular dystrophy, vitelliform, 4 | |
| 470 macular dystrophy, vitelliform, 5 | |
| 470 vitelliform dystrophy | |
| 471 coronary heart disease | |
| 471 coronary heart disease 2 | |
| 471 coronary heart disease, susceptibility to, 5 | |
| 471 coronary heart disease, susceptibility to, 6 | |
| 471 coronary heart disease, susceptibility to, 7 | |
| 472 hepatic veno-occlusive disease with immunodeficiency | |
| 472 hepatic venoocclusive disease with immunodeficiency | |
| 473 deep venous thrombosis, protection against | |
| 473 venous thrombosis, protection against | |
| 474 cataract 1 | |
| 474 cataract 16, congenital lamellar | |
| 474 cataract 17, congenital nuclear, autosomal recessive | |
| 474 cataract 18, autosomal recessive | |
| 474 cataract 1, nuclear progressive | |
| 474 cataract 1, stellate nuclear, with microcornea | |
| 474 cataract 1 with microcornea | |
| 474 cataract 21, cerulean, with or without microcornea | |
| 474 cataract 22, nuclear, autosomal recessive | |
| 474 cataract 23 | |
| 474 cataract 23, lamellar | |
| 474 cataract 2, nuclear | |
| 474 cataract 2, nuclear, with microcornea | |
| 474 cataract 36 | |
| 474 cataract 38 | |
| 474 cataract 40 | |
| 474 cataract 41 (1 family) | |
| 474 cataract 43 (1 family) | |
| 474 cataract 4, central nuclear | |
| 474 cataract 4 with microcornea | |
| 474 cataract 5, lamellar | |
| 474 cataract 9, autosomal recessive | |
| 474 cataract 9, nuclear | |
| 474 cataract 9, nuclear lamellar | |
| 474 cataract 9, nuclear, with microcornea | |
| 474 cataracts | |
| 474 congenital cataract | |
| 475 metachromatic leukodystrophy | |
| 475 metachromatic leukodystrophy, adult | |
| 475 metachromatic leukodystrophy due to saposin b deficiency | |
| 475 metachromatic leukodystrophy, juvenile | |
| 475 metachromatic leukodystrophy, late infantile | |
| 475 metachromatic leukodystrophy, late-onset | |
| 475 metachromatic leukodystrophy, mild | |
| 475 metachromatic leukodystrophy, severe | |
| 476 porokeratosis 3, multiple types | |
| 476 porokeratosis 9, multiple types | |
| 477 split-hand/foot malformation 1 | |
| 477 split-hand/foot malformation 4 | |
| 477 split-hand/foot malformation 6 | |
| 478 fibrinogen, beta-148 polymorphism | |
| 478 fibrinogen-beta polymorphism | |
| 479 fibrosis of extraocular muscles, congenital, 1 | |
| 479 fibrosis of extraocular muscles, congenital, 2 | |
| 479 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement | |
| 479 fibrosis of extraocular muscles, congenital, 3b | |
| 479 fibrosis of extraocular muscles, congenital, 5 | |
| 480 mosaic variegated aneuploidy syndrome 1 | |
| 480 mosaic variegated aneuploidy syndrome 2 | |
| 481 pulmonary hypertension, primary, dexfenfluramine-associated | |
| 481 pulmonary hypertension, primary, fenfluramine-associated | |
| 482 hydatidiform mole | |
| 482 hydatidiform mole, recurrent, 1 | |
| 482 hydatidiform mole, recurrent, 2 | |
| 483 achromatopisia 5 | |
| 483 achromatopsia | |
| 483 achromatopsia 2 | |
| 483 achromatopsia 3 | |
| 483 achromatopsia 4 | |
| 483 achromatopsia 6 | |
| 483 achromatopsia 7 | |
| 484 carney complex | |
| 484 carney complex, type 1 | |
| 484 carney complex variant | |
| 485 citrullinemia | |
| 485 citrullinemia, classic | |
| 485 citrullinemia, mild | |
| 485 citrullinemia type i | |
| 486 hyperekplexia | |
| 486 hyperekplexia 1, autosomal dominant | |
| 486 hyperekplexia 2 | |
| 486 hyperekplexia 3, autosomal dominant | |
| 486 hyperekplexia hereditary | |
| 487 laurence-moon syndrome | |
| 487 laurence-moon syndrome (1 family) | |
| 488 infections, recurrent, associated with encephalopathy, hepatic dysfunction, and cardiovascular malformations | |
| 488 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | |
| 489 deafness, autosomal recessive 4, with enlarged vestibular aqueduct | |
| 489 deafness, autosomal recessive 4, with enlarged vestibular aqueduct, digenic | |
| 489 enlarged vestibular aqueduct syndrome | |
| 490 ccr5 polymorphism, oriental 1 | |
| 490 ccr5 polymorphism, oriental 2 | |
| 491 hereditary mixed polyposis syndrome 1 | |
| 491 polyposis syndrome, hereditary mixed, 2 | |
| 492 apolipoprotein a-iv polymorphism, apoa4*1/apoa4*2 | |
| 492 apolipoprotein(a), type c polymorphism | |
| 492 apolipoprotein(a), type d polymorphism | |
| 492 lipoprotein(a) deficiency, congenital | |
| 492 lipoprotein lipase deficiency | |
| 492 lipoprotein lipase (olbia) | |
| 492 lipoprotein lipase polymorphism | |
| 493 acid alpha-glucosidase, allele 2 | |
| 493 acid alpha-glucosidase, allele 4 | |
| 494 hypothyroidism, congenital, nongoitrous, 1 | |
| 494 hypothyroidism, congenital, nongoitrous, 2 | |
| 494 hypothyroidism, congenital, nongoitrous, 4 | |
| 494 hypothyroidism, congenital, nongoitrous, 5 | |
| 494 hypothyroidism, congenital, nongoitrous, 6 | |
| 495 myopathy, tubular aggregate, 1 | |
| 495 myopathy, tubular aggregate, 2 | |
| 496 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related | |
| 496 myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related | |
| 497 exostoses, multiple, type i | |
| 497 exostoses, multiple, type ii | |
| 498 ras-associated autoimmune leukoproliferative disorder, somatic | |
| 498 ras-associated autoimmune leukoproliferative disorder, somatic (1 patient) | |
| 499 adams-oliver syndrome | |
| 499 adams-oliver syndrome 1 | |
| 499 adams-oliver syndrome 2 | |
| 499 adams-oliver syndrome 3 | |
| 499 adams-oliver syndrome 4 | |
| 499 adams-oliver syndrome 5 | |
| 499 adams-oliver syndrome 6 | |
| 500 pseudohypoparathyroidism type 1a | |
| 500 pseudohypoparathyroidism type 1c | |
| 500 pseudohypoparathyroidism, type ia | |
| 500 pseudohypoparathyroidism, type ia, with testotoxicosis | |
| 500 pseudohypoparathyroidism, type ib | |
| 500 pseudohypoparathyroidism, type ic | |
| 500 pseudopseudohypoparathyroidism | |
| 501 congenital hyperinsulinism | |
| 501 hyperinsulinemia | |
| 501 hyperinsulinemic hypoglycemia, familial, 1 | |
| 501 hyperinsulinemic hypoglycemia, familial, 2 | |
| 501 hyperinsulinemic hypoglycemia, familial, 3 | |
| 501 hyperinsulinemic hypoglycemia, familial, 4 | |
| 501 hyperinsulinemic hypoglycemia, familial, 5 | |
| 501 hyperinsulinemic hypoglycemia, familial, 6 | |
| 501 hyperinsulinemic hypoglycemia, familial, 7 | |
| 501 hyperinsulinism-hyperammonemia syndrome | |
| 501 hyperproinsulinemia | |
| 501 hyperprolactinemia (1 family) | |
| 501 hyperprolinemia, type i | |
| 501 hyperprolinemia, type ii | |
| 501 hyperproreninemia, familial | |
| 501 hypoinsulinemic hypoglycemia and hemihypertrophy | |
| 501 persistent hyperinsulinemic hypoglycemia of infancy | |
| 502 precocious puberty, central, 1 (1 family) | |
| 502 precocious puberty, central, 2 | |
| 503 meier-gorlin syndrome | |
| 503 meier-gorlin syndrome 1 | |
| 503 meier-gorlin syndrome 2 | |
| 503 meier-gorlin syndrome 3 | |
| 503 meier-gorlin syndrome 4 | |
| 503 meier-gorlin syndrome 5 | |
| 504 nail disorder, nonsyndromic congenital, 10 | |
| 504 nail disorder, nonsyndromic congenital, 3 | |
| 504 nail disorder, nonsyndromic congenital, 4 | |
| 504 nail disorder, nonsyndromic congenital, 8 | |
| 505 hemophilia a | |
| 505 hemophilia a, severe | |
| 505 hemophilia b | |
| 505 hemophilia b leyden | |
| 505 hemophilia b(m) | |
| 506 familial porencephaly | |
| 506 porencephaly 1 | |
| 506 porencephaly 2 | |
| 507 narcolepsy 1 (1 patient) | |
| 507 narcolepsy 7 (1 family) | |
| 507 type 1 narcolepsy | |
| 508 congenital hypothyroidism, due to dyshormonogenesis, thyroid dyshormonogenesis 6 | |
| 508 thyroid dyshormonogenesis 1 | |
| 508 thyroid dyshormonogenesis 2a | |
| 508 thyroid dyshormonogenesis 3 | |
| 508 thyroid dyshormonogenesis 4 | |
| 508 thyroid dyshormonogenesis 5 | |
| 508 thyroid dyshormonogenesis 6 | |
| 509 cerebrooculofacioskeletal syndrome 1 | |
| 509 cerebrooculofacioskeletal syndrome 2 | |
| 509 cerebrooculofacioskeletal syndrome 2 (1 patient) | |
| 509 cerebrooculofacioskeletal syndrome 3 | |
| 509 cerebrooculofacioskeletal syndrome 4 | |
| 510 leukemia, megakaryoblastic, of down syndrome, somatic | |
| 510 leukemia, megakaryoblastic, somatic | |
| 511 renal tubular acidosis, autosomal dominant | |
| 511 renal tubular acidosis, distal, autosomal dominant | |
| 511 renal tubular acidosis, distal, autosomal recessive | |
| 511 renal tubular acidosis, distal, with progressive deafness | |
| 511 renal tubular acidosis with deafness | |
| 512 anemia, nonspeherocytic hemolytic, due to g6pd deficiency | |
| 512 anemia, nonspherocytic hemolytic, due to g6pd deficiency | |
| 512 hemolytic anemia due to g6pd deficiency | |
| 512 hemolytic anemia due to umph1 deficiency | |
| 512 hemolytic anemia, nonspherocytic, due to hexokinase deficiency | |
| 513 intractable seizure | |
| 513 intractable seizures | |
| 514 methemoglobinemia, type i | |
| 514 methemoglobinemia, type ii | |
| 514 methemoglobinemia, type iv | |
| 515 dystonia 1, torsion, autosomal dominant | |
| 515 dystonia 1, torsion, modifier of | |
| 515 dystonia 4, torsion, autosomal dominant | |
| 515 dystonia 6, torsion | |
| 516 pregnancy loss, recurrent, susceptibility to, 1 | |
| 516 pregnancy loss, recurrent, susceptibility to, 2 | |
| 516 pregnancy loss, recurrent, susceptibility to, 3 | |
| 517 bche, h variant | |
| 517 bche, j variant | |
| 517 bche, k variant | |
| 517 bche, quantitative h variant | |
| 517 bche, quantitative j variant | |
| 518 antichymotrypsin bochum 1 | |
| 518 antichymotrypsin bonn 1 | |
| 518 antichymotrypsin isehara 1 | |
| 518 antichymotrypsin isehara 2 | |
| 519 heart block, nonprogressive | |
| 519 progressive familial heart block type 1a | |
| 519 progressive familial heart block, type ia | |
| 519 progressive familial heart block, type ib | |
| 520 glucose-6-phosphate dehydrogenase deficiency | |
| 520 pyruvate dehydrogenase e1-alpha deficiency | |
| 520 pyruvate dehydrogenase e1-beta deficiency | |
| 520 pyruvate dehydrogenase e2 deficiency | |
| 520 pyruvate dehydrogenase e3-binding protein deficiency | |
| 520 pyruvate dehydrogenase phosphatase deficiency | |
| 520 pyruvate hydrogenase e3-binding protein deficiency | |
| 521 transposition of great arteries, dextro-looped 3 | |
| 521 transposition of the great arteries, dextro-looped 1 | |
| 522 symphalangism, proximal, 1a | |
| 522 symphalangism, proximal, 1b | |
| 523 hyperekplexia 1, autosomal recessive | |
| 523 hyperekplexia 3, autosomal recessive | |
| 524 ehlers-danlos syndrome, progeroid type, 1 | |
| 524 ehlers-danlos syndrome, progeroid type, 2 | |
| 525 infantile liver failure syndrome 1 (1 family) | |
| 525 infantile liver failure syndrome 2 | |
| 525 liver failure acute infantile | |
| 525 liver failure, infantile, transient | |
| 526 medullary cystic kidney disease 1 | |
| 526 medullary cystic kidney disease 2 | |
| 527 huntington disease-like 1 | |
| 527 huntington disease-like 2 | |
| 528 spherocytosis, type 1, autosomal recessive | |
| 528 spherocytosis, type 3, autosomal recessive | |
| 529 c6 deficiency, subtotal | |
| 529 c7 and c6 deficiency, combined subtotal | |
| 530 coronary artery disease, autosomal dominant 1 | |
| 530 coronary artery disease, autosomal dominant 2 | |
| 530 coronary artery disease, modifier of | |
| 530 coronary artery disease, resistance to | |
| 530 coronary artery disease, severe, susceptibility to | |
| 530 coronary artery disease, susceptibility to | |
| 530 coronary artery spasm 1, susceptibility to | |
| 530 coronary artery spasm 2, susceptibility to | |
| 530 premature coronary artery disease | |
| 531 cataract 11, posterior polar | |
| 531 cataract 16, posterior polar | |
| 531 cataract 31, posterior polar | |
| 531 cataract 6, posterior polar | |
| 532 pulmonary venoocclusive disease 1 | |
| 532 pulmonary venoocclusive disease 2 | |
| 533 oto-palato-digital syndrome, type i | |
| 533 otopalatodigital syndrome, type i | |
| 533 otopalatodigital syndrome, type ii | |
| 534 hyperphenylalaninaemia | |
| 534 hyperphenylalaninemia, non-pku | |
| 534 hyperphenylalaninemia, non-pku mild | |
| 535 dystonia 11, myoclonic | |
| 535 dystonia 26, myoclonic | |
| 535 myoclonic dystonia | |
| 536 congenital fiber-type disproportion | |
| 536 congenital myopathy with fiber type disproportion | |
| 536 myopathy, congenital, with fiber-type disproportion | |
| 537 epilepsy, familial temporal lobe, 5 | |
| 537 epilepsy, familial temporal lobe, 7 | |
| 537 epilepsy, lateral temporal lobe, autosomal dominant | |
| 538 factor b fast-slow polymorphism | |
| 538 factor ix, dna polymorphism | |
| 538 factor ix polymorphism | |
| 538 factor viii polymorphism | |
| 538 factor xii polymorphism | |
| 539 hemoglobin d (ouled rabah) | |
| 539 hemoglobin f (ouled rabah) | |
| 540 trichorhinophalangeal syndrome, type i | |
| 540 trichorhinophalangeal syndrome, type iii | |
| 541 hemoglobin g (philadelphia) | |
| 541 hemoglobin i (philadelphia) | |
| 542 carbonic anhydrase 5a deficiency, hyperammonemia due to | |
| 542 carbonic anhydrase va deficiency, hyperammonemia due to | |
| 543 paget disease of bone 3 | |
| 543 paget disease of bone, familial | |
| 544 myasthenic syndrome, congenital, 6, presynaptic | |
| 544 myasthenic syndrome, congenital, 7, presynaptic | |
| 545 perrault syndrome 1 | |
| 545 perrault syndrome 2 (1 family) | |
| 545 perrault syndrome 3 | |
| 545 perrault syndrome 4 | |
| 545 perrault syndrome 5 | |
| 546 vesicoureteral reflux 2 | |
| 546 vesicoureteral reflux 3 | |
| 546 vesicoureteral reflux 8 | |
| 547 renpenning syndrome | |
| 547 renpenning syndrome 1 | |
| 548 simpson-golabi-behmel syndrome, type 1 | |
| 548 simpson-golabi-behmel syndrome, type 2 | |
| 549 hemoglobin m (milwaukee 1) | |
| 549 hemoglobin m (milwaukee 2) | |
| 549 hemoglobin south milwaukee | |
| 550 klippel-feil syndrome 1, autosomal dominant | |
| 550 klippel-feil syndrome 3, autosomal dominant | |
| 551 cold-induced sweating syndrome 1 | |
| 551 cold-induced sweating syndrome 2 | |
| 551 cold-induced sweating syndrome including crisponi syndrome | |
| 552 medulloblastoma | |
| 552 medulloblastoma, desmoplastic | |
| 552 medulloblastoma, desmoplastic, somatic | |
| 552 medulloblastoma, somatic | |
| 553 basal cell carcinoma, somatic | |
| 553 basal cell carcinoma, sporadic | |
| 553 basal cell carcinoma, susceptibility to, 7 | |
| 553 cystic parathyroid adenoma, somatic | |
| 553 merkel cell carcinoma, somatic | |
| 553 nevoid basal cell carcinoma syndrome | |
| 553 parathyroid adenoma | |
| 553 parathyroid adenoma, somatic | |
| 553 parathyroid carcinoma | |
| 553 parathyroid carcinoma, somatic | |
| 553 renal carcinoma, chromophobe, somatic | |
| 553 renal cell carcinoma | |
| 553 renal cell carcinoma, chromophobe | |
| 553 renal cell carcinoma, clear cell | |
| 553 renal cell carcinoma, clear cell, somatic | |
| 553 renal cell carcinoma, papillary, 1 | |
| 553 renal cell carcinoma, papillary, 1, somatic | |
| 553 renal cell carcinoma, somatic | |
| 553 thyroid adenoma, follicular | |
| 553 thyroid carcinoma, anaplastic, somatic | |
| 553 thyroid carcinoma, follicular | |
| 553 thyroid carcinoma, follicular, somatic | |
| 553 thyroid carcinoma, papillary, somatic | |
| 553 thyroid carcinoma with thyrotoxicosis, somatic | |
| 554 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques | |
| 554 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked (1 family) | |
| 555 crigler-najjar syndrome, type i | |
| 555 crigler-najjar syndrome, type ii | |
| 556 hypospadias 1, x-linked | |
| 556 hypospadias 2, x-linked | |
| 557 deafness, digenic, gjb2/gjb3 | |
| 557 deafness, digenic, gjb2/gjb6 | |
| 558 iridogoniodysgenesis, type 1 | |
| 558 iridogoniodysgenesis, type 2 | |
| 559 transferrin variant b2 | |
| 559 transferrin variant bv | |
| 559 transferrin variant c1/c2 | |
| 559 transferrin variant d1 | |
| 559 transferrin variant d(chi) | |
| 560 hemoglobin g (knoxville) | |
| 560 hemoglobin knoxville-1 | |
| 561 fibrinogen baltimore 1 | |
| 561 fibrinogen baltimore 2 | |
| 561 fibrinogen baltimore 3 | |
| 562 hemoglobin a(2) melbourne | |
| 562 hemoglobin f (melbourne) | |
| 563 advanced sleep phase syndrome, familial, 1 | |
| 563 advanced sleep phase syndrome, familial, 2 | |
| 564 pelizaeus-merzbacher disease | |
| 564 pelizaeus-merzbacher disease, atypical | |
| 564 pelizaeus-merzbacher disease, connatal | |
| 564 pelizaeus-merzbacher disease, mild | |
| 565 pyogenic arthritis, pyoderma gangrenosum and acne | |
| 565 pyogenic sterile arthritis, pyoderma gangrenosum, and acne | |
| 566 brugada syndrome | |
| 566 brugada syndrome 1 | |
| 566 brugada syndrome 2 | |
| 566 brugada syndrome 3 | |
| 566 brugada syndrome 4 | |
| 566 brugada syndrome 5 | |
| 566 brugada syndrome 6 (1 family) | |
| 566 brugada syndrome 7 | |
| 566 brugada syndrome 8 | |
| 566 brugada syndrome 9 | |
| 567 stargardt disease | |
| 567 stargardt disease 1 | |
| 567 stargardt disease 3 | |
| 567 stargardt disease 4 | |
| 568 amyloidogenic transthyretin amyloidosis | |
| 568 amyloidosis, hereditary, transthyretin-related | |
| 568 amyloidosis, hereditary, transthyretin-related, modifier of | |
| 568 amyloidosis, leptomeningeal, transthyretin-related | |
| 568 transthyretin amyloidosis | |
| 569 carpenter syndrome | |
| 569 carpenter syndrome 2 | |
| 569 cole-carpenter syndrome 1 | |
| 569 cole-carpenter syndrome 2 | |
| 570 cortisone reductase deficiency 1 | |
| 570 cortisone reductase deficiency 2 | |
| 571 alexander disease | |
| 571 alexander's disease | |
| 572 migraine, familial hemiplegic 1, with progressive cerebellar ataxia | |
| 572 migraine, sporadic hemiplegic, with progressive cerebellar ataxia | |
| 573 urofacial syndrome | |
| 573 urofacial syndrome 1 | |
| 573 urofacial syndrome 2 | |
| 574 ehlers-danlos-like syndrome due to tenascin-x deficiency | |
| 574 ehlers-danlos syndrome due to tenascin-x deficiency | |
| 575 homocystinuria, pyridoxine-nonresponsive | |
| 575 homocystinuria, pyridoxine-responsive | |
| 576 desbuquois dysplasia 1 | |
| 576 desbuquois dysplasia 1, kim variant | |
| 576 desbuquois dysplasia 2 | |
| 577 myopathy, areflexia, respiratory distress, and dysphagia, early-onset | |
| 577 myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant | |
| 578 thyroid hormone resistance, generalized | |
| 578 thyroid hormone resistance, generalized, autosomal dominant | |
| 578 thyroid hormone resistance, generalized, autosomal recessive | |
| 578 thyrotropin-releasing hormone resistance, generalized | |
| 579 non-immune hydrops fetalis | |
| 579 nonimmune hydrops fetalis | |
| 580 acth-independent macronodular adrenal hyperplasia 2 | |
| 580 acth-independent macronodular adrenal hyperplasia, somatic | |
| 581 germ cell tumor, somatic | |
| 581 granulosa cell tumor, somatic | |
| 581 male germ cell tumor, somatic | |
| 581 nonseminomatous germ cell tumors, somatic | |
| 582 psoriasis 13, susceptibility to | |
| 582 psoriasis 14, pustular | |
| 582 psoriasis 15, pustular, susceptibility to | |
| 582 psoriasis 2 | |
| 582 psoriasis 2, pustular | |
| 582 psoriasis susceptibility 1 | |
| 582 pustular psoriasis, generalized | |
| 583 multiple sclerosis, susceptibility to, 1 | |
| 583 multiple sclerosis, susceptibility to, 5 | |
| 584 white sponge nevus 1 | |
| 584 white sponge nevus 2 | |
| 585 joubert syndrome 12/15, digenic | |
| 585 joubert syndrome 9/15, digenic | |
| 586 hemoglobin g (ferrara) | |
| 586 hemoglobin l (ferrara) | |
| 587 ovarian dysgenesis 1 | |
| 587 ovarian dysgenesis 2 | |
| 587 ovarian dysgenesis 3 | |
| 587 ovarian dysgenesis 4 | |
| 588 classic galactosemia | |
| 588 epimerase deficiency galactosemia | |
| 588 galactose epimerase deficiency | |
| 588 galactose epimerase deficiency, severe | |
| 588 galactosemia | |
| 589 cerebral amyloid angiopathy, app-related | |
| 589 cerebral amyloid angiopathy, app-related, arctic variant | |
| 589 cerebral amyloid angiopathy, app-related, dutch variant | |
| 589 cerebral amyloid angiopathy, app-related, flemish variant | |
| 589 cerebral amyloid angiopathy, app-related, iowa variant | |
| 589 cerebral amyloid angiopathy, app-related, italian variant | |
| 589 cerebral amyloid angiopathy, app-related, piedmont variant | |
| 589 cerebral amyloid angiopathy, prnp-related | |
| 590 complement c8 deficiency, type i | |
| 590 complement c8 deficiency, type ii | |
| 590 complement factor b deficiency (1 family) | |
| 590 complement factor d deficiency | |
| 590 complement factor h deficiency | |
| 590 complement factor i deficiency | |
| 591 migraine, susceptibility to | |
| 591 migraine, with or without aura, susceptibility to, 13 | |
| 591 migraine without aura, susceptibility to | |
| 592 acute neuronopathic gaucher's disease | |
| 592 subacute neuronopathic gaucher's disease | |
| 593 late-onset retinal degeneration | |
| 593 retinal degeneration, late-onset, autosomal dominant | |
| 594 zimmermann-laband syndrome 1 | |
| 594 zimmermann-laband syndrome 2 | |
| 595 long qt syndrome 1/2, digenic | |
| 595 long qt syndrome 2/3, digenic | |
| 595 long qt syndrome 2/5, digenic | |
| 595 long qt syndrome 2/9, digenic | |
| 595 long qt syndrome 3/6, digenic | |
| 596 dystonia | |
| 596 dystonia 10 | |
| 596 dystonia 12 | |
| 596 dystonia 16 | |
| 596 dystonia 23 (1 family) | |
| 596 dystonia 24 | |
| 596 dystonia 25 | |
| 596 dystonia 27 | |
| 596 dystonia 9 | |
| 596 severe dystonia | |
| 597 feingold syndrome | |
| 597 feingold syndrome 1 | |
| 598 sick sinus syndrome | |
| 598 sick sinus syndrome 3, susceptibility to | |
| 599 cornelia de lange syndrome 1 | |
| 599 cornelia de lange syndrome 1 (cdls1) | |
| 599 cornelia de lange syndrome 2 | |
| 599 cornelia de lange syndrome 2 (cdls2) | |
| 599 cornelia de lange syndrome 3 | |
| 599 cornelia de lange syndrome 3 (cdls3) | |
| 599 cornelia de lange syndrome 4 | |
| 599 cornelia de lange syndrome 5 | |
| 599 cornelia de lange syndrome 5 (cdls5) | |
| 600 alagille syndrome | |
| 600 alagille syndrome 1 | |
| 600 alagille syndrome 2 | |
| 601 polycystic kidney disease 1 | |
| 601 polycystic kidney disease 1, severe | |
| 601 polycystic kidney disease 2 | |
| 601 polycystic kidney disease, adult type | |
| 601 polycystic kidney disease, autosomal dominant | |
| 601 polycystic kidney disease, autosomal recessive | |
| 601 polycystic kidney disease, infantile type | |
| 602 foveal hypoplasia 1 | |
| 602 foveal hypoplasia 1 with cataract | |
| 602 foveal hypoplasia 2 | |
| 603 albumin hiroshima 1 | |
| 603 albumin hiroshima 2 | |
| 604 asperger syndrome, susceptibility to, x-linked 1 | |
| 604 asperger syndrome, susceptibility to, x-linked 2 | |
| 605 enlarged parietal foramina | |
| 605 parietal foramina 1 | |
| 605 parietal foramina 2 | |
| 606 pitt-hopkins-like syndrome 1 | |
| 606 pitt-hopkins-like syndrome 2 | |
| 606 pitt-hopkins syndrome | |
| 607 fh french canadian 1 | |
| 607 fh french canadian 2 | |
| 607 fh french canadian 4 | |
| 607 fh french canadian 5 | |
| 607 leigh syndrome, french canadian type | |
| 608 short qt syndrome | |
| 608 short qt syndrome 1 | |
| 608 short qt syndrome 2 | |
| 608 short qt syndrome 3 | |
| 608 short syndrome | |
| 609 arylsulfatase a pseudodeficiency | |
| 609 arylsulfatase a pseudodeficiency, intermediate | |
| 609 arylsulfatase a pseudodeficiency, severe | |
| 610 hemangioma, capillary infantile, somatic | |
| 610 hemangioma, capillary infantile, susceptibility to | |
| 611 birt-hogg-dube syndrome | |
| 611 birt-hogg-dub syndrome | |
| 611 birt-hogg-dubŽ syndrome | |
| 612 cavitary optic disc anomalies | |
| 612 cavitary optic disc anomaly | |
| 613 myopia 21, autosomal dominant | |
| 613 myopia 22, autosomal dominant | |
| 613 myopia 24, autosomal dominant | |
| 614 ehlers-danlos syndrome, classic type | |
| 614 ehlers-danlos syndrome, type 3 | |
| 614 ehlers-danlos syndrome, type 4 | |
| 614 ehlers-danlos syndrome, type iv | |
| 614 ehlers-danlos syndrome, type iv, autosomal recessive | |
| 614 ehlers-danlos syndrome, type iv, nonvascular variant | |
| 614 ehlers-danlos syndrome, type iv, variant | |
| 614 ehlers-danlos syndrome, type vi | |
| 614 ehlers-danlos syndrome, type viia | |
| 614 ehlers-danlos syndrome, type viib | |
| 614 ehlers-danlos syndrome, type viic | |
| 615 achondrogenesis, type ia | |
| 615 achondrogenesis, type ib | |
| 615 achondrogenesis, type ii | |
| 616 weill-marchesani-like syndrome | |
| 616 weill-marchesani syndrome 1 | |
| 616 weill-marchesani syndrome 2 | |
| 616 weill-marchesani syndrome 3 | |
| 617 treacher collins syndrome 1 | |
| 617 treacher collins syndrome 2 | |
| 617 treacher collins syndrome 2, autosomal recessive | |
| 617 treacher collins syndrome 3 | |
| 618 bombay phenotype | |
| 618 bombay phenotype, classic | |
| 618 para-bombay phenotype | |
| 619 fibrinogen kyoto 1 | |
| 619 fibrinogen kyoto 2 | |
| 619 fibrinogen kyoto 3 | |
| 619 fibrinogen matsumoto 1 | |
| 619 fibrinogen tokyo 2 | |
| 620 albumin nagasaki 2 | |
| 620 albumin nagasaki 3 | |
| 621 auriculocondylar syndrome 1 | |
| 621 auriculocondylar syndrome 2 | |
| 621 auriculocondylar syndrome 3 | |
| 622 cerebral creatine deficiency syndrome 1 | |
| 622 cerebral creatine deficiency syndrome 2 | |
| 622 cerebral creatine deficiency syndrome 3 | |
| 623 orofacial cleft 10 | |
| 623 orofacial cleft 11 | |
| 623 orofacial cleft 5 | |
| 623 orofacial cleft 7 | |
| 623 orofacial cleft 8 | |
| 623 orofacial clefting | |
| 624 singleton-merten syndrome 1 | |
| 624 singleton-merten syndrome 2 | |
| 625 branchiootorenal syndrome 1 | |
| 625 branchiootorenal syndrome 2 | |
| 625 branchiootorenal syndrome with cataract | |
| 626 immunodeficiency due to defect in cd3-zeta | |
| 626 immunodeficiency due to defect in cd3-zeta, somatic | |
| 627 ritscher-schinzel syndrome 1 | |
| 627 ritscher-schinzel syndrome 2 | |
| 628 carbonic anhydrase i deficiency | |
| 628 carbonic anhydrase i, guam | |
| 628 carbonic anhydrase ii variant | |
| 629 septooptic dysplasia | |
| 629 septooptic dysplasia, mild | |
| 629 septo-optic dysplasia sequence | |
| 630 cyanosis, transient neonatal | |
| 630 cyanosis, transient neonatel | |
| 630 zinc deficiency, transient neonatal | |
| 631 lymphangioleiomyomatosis | |
| 631 lymphangioleiomyomatosis, somatic | |
| 632 gm2-gangliosidosis, ab variant | |
| 632 gm2-gangliosidosis, b1 variant | |
| 633 supravalvar aortic stenosis | |
| 633 supravalvular aortic stenosis | |
| 634 stuve-wiedemann/schwartz-jampel type 2 syndrome | |
| 634 stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome | |
| 635 leopard syndrome | |
| 635 leopard syndrome 1 | |
| 635 leopard syndrome 2 | |
| 635 leopard syndrome 3 | |
| 636 greig cephalopolysyndactyly syndrome | |
| 636 greig cephalopolysyndactyly syndrome, severe | |
| 637 baraitser-winter syndrome 1 | |
| 637 baraitser-winter syndrome 1, atypical | |
| 637 baraitser-winter syndrome 2 | |
| 638 joubert syndrome | |
| 638 joubert syndrome 1 | |
| 638 joubert syndrome 10 | |
| 638 joubert syndrome 12 | |
| 638 joubert syndrome 13 | |
| 638 joubert syndrome 14 | |
| 638 joubert syndrome 15 | |
| 638 joubert syndrome 16 | |
| 638 joubert syndrome 17 | |
| 638 joubert syndrome 18 | |
| 638 joubert syndrome 19 | |
| 638 joubert syndrome 2 | |
| 638 joubert syndrome 20 | |
| 638 joubert syndrome 21 | |
| 638 joubert syndrome 22 (1 family) | |
| 638 joubert syndrome 23 | |
| 638 joubert syndrome 24 | |
| 638 joubert syndrome 3 | |
| 638 joubert syndrome 4 | |
| 638 joubert syndrome 5 | |
| 638 joubert syndrome 6 | |
| 638 joubert syndrome 7 | |
| 638 joubert syndrome 8 | |
| 638 joubert syndrome 9 | |
| 639 hepatitis b virus, susceptibility to | |
| 639 hepatitis c virus, resistance to | |
| 639 hepatitis c virus, susceptibility to | |
| 640 wolfram syndrome | |
| 640 wolfram syndrome 1 | |
| 640 wolfram syndrome 2 | |
| 641 sialidiosis | |
| 641 sialidosis, type i | |
| 641 sialidosis, type ii | |
| 642 pi null(hong kong 1) | |
| 642 pi null(hong kong 2) | |
| 642 pi q0(hong kong 1) | |
| 642 pi q0(hong kong 2) | |
| 643 laing distal myopathy | |
| 643 myopathy, distal, 1 | |
| 643 myopathy, distal, 2 | |
| 643 myopathy, distal, 4 | |
| 643 myopathy, distal, tateyama type | |
| 643 udd distal myopathy | |
| 644 austism susceptibility, x-linked | |
| 644 autism, susceptibility to, x-linked 1 | |
| 644 autism, susceptibility to, x-linked 2 | |
| 644 autism, susceptibility to, x-linked 3 | |
| 644 autism, susceptibility to, x-linked 4 | |
| 644 autism, susceptibility to, x-linked 5 | |
| 645 apoh polymorphism | |
| 645 app polymorphism | |
| 645 c3s/c3f polymorphism | |
| 645 c6 a/b polymorphism | |
| 645 cftr polymorphism | |
| 645 cyba polymorphism | |
| 645 erbb2 polymorphism | |
| 645 fnb1 polymorphism | |
| 645 fu1/fu2 polymorphism | |
| 645 galt polymorphism | |
| 645 galt polymorphism (duarte, d2) | |
| 645 gc1/gc2 polymorphism | |
| 645 ghrelin polymorphism | |
| 645 gnb3 polymorphism | |
| 645 hbg1 polymorphism | |
| 645 hexb polymorphism | |
| 645 hfe intronic polymorphism | |
| 645 hfe polymorphism | |
| 645 his2*1/his2*2 polymorphism | |
| 645 mdr1 polymorphism | |
| 645 msh2 polymorphism | |
| 645 oat polymorphism | |
| 645 pax8 polymorphism | |
| 645 pparg polymorphism c/t | |
| 645 red cone polymorphism | |
| 645 rh c/c polymorphism | |
| 645 rh e/e polymorphism | |
| 645 tcn2 polymorphism | |
| 645 ucp1 polymorphism | |
| 645 ucp3 polymorphism g/a | |
| 646 subcortical laminar heterotopia | |
| 646 subcortical laminar heterotopia, x-linked | |
| 647 dehydrated hereditary stomatocytosis | |
| 647 dehydrated hereditary stomatocytosis and pseudohyperkalemia | |
| 647 dehydrated hereditary stomatocytosis with pseudohyperkalemia and perinatal edema | |
| 647 overhydrated hereditary stomatocytosis | |
| 648 arthropathy, progressive pseudorheumatoid, of childhood | |
| 648 progressive pseudorheumatoid arthropathy | |
| 649 axenfeld anomaly | |
| 649 axenfeld-rieger anomaly | |
| 649 axenfeld-rieger syndrome, type 1 | |
| 649 axenfeld-rieger syndrome, type 3 | |
| 649 rieger anomaly | |
| 649 scaphocephaly and axenfeld-rieger anomaly | |
| 650 diabetes insipidus | |
| 650 diabetes insipidus, nephrogenic, autosomal dominant | |
| 650 diabetes insipidus, nephrogenic, autosomal recessive | |
| 650 diabetes insipidus, nephrogenic, x-linked | |
| 650 diabetes insipidus, neurohypophyseal | |
| 650 diabetes insipidus, neurohypophyseal, autosomal recessive | |
| 650 nephrogenic diabetes insipidus | |
| 651 mutyh-associated polyposis | |
| 651 myh-associated polyposis | |
| 652 achondroplasia | |
| 652 hypochondroplasia | |
| 652 pseudoachondroaplasia | |
| 652 pseudoachondroplasia | |
| 652 pseudoachondroplasia, severe | |
| 653 homocysteinemia due to mthfr deficiency | |
| 653 homocysteinuria due to mthfr deficiency | |
| 653 homocystinuria due to cbs deficiency | |
| 653 homocystinuria due to mthfr deficiency | |
| 654 paragangliomas 1 | |
| 654 paragangliomas 2 | |
| 654 paragangliomas 3 | |
| 654 paragangliomas 4 | |
| 654 paragangliomas 5 | |
| 655 elliptocytosis 1 | |
| 655 elliptocytosis 2 | |
| 655 elliptocytosis 3 | |
| 656 complement component 5 deficiency | |
| 656 complement component 6 deficiency | |
| 656 complement component 8 deficiency type 2 | |
| 657 trigonocephaly 1 | |
| 657 trigonocephaly 2 | |
| 658 brittle cornea syndrome 1 | |
| 658 brittle cornea syndrome 2 | |
| 659 glucocorticoid deficiency 1 | |
| 659 glucocorticoid deficiency 2 | |
| 659 glucocorticoid deficiency 4 | |
| 659 glucocorticoid deficiency with achalasia | |
| 660 cataract 11, total | |
| 660 cataract 6, congenital total | |
| 660 cataract 9, total | |
| 661 neurodegeneration | |
| 661 neurodegenerative disease | |
| 661 neurodegenerative illness | |
| 661 neurodegeration | |
| 662 osteoarthritis susceptibility 1 | |
| 662 osteoarthritis susceptibility 2 | |
| 662 osteoarthritis susceptibility 3 | |
| 662 osteoarthritis susceptibility 5 | |
| 663 myotubular myopathy, x-linked | |
| 663 severe x-linked myotubular myopathy | |
| 664 ataxia, adult-onset, with oculomotor apraxia | |
| 664 ataxia-oculomotor apraxia 3 (1 family) | |
| 664 ataxia-oculomotor apraxia 4 | |
| 665 wiedemann-steiner syndrome | |
| 665 wiedemann-steiner syndrome (wdsts) | |
| 666 smith-lemli-opitz syndrome | |
| 666 smith-lemli-opitz syndrome, mild | |
| 667 trimethylaminuria | |
| 667 trimethylaminuria, mild | |
| 668 leukoencephalopathy with vanishing white matter | |
| 668 leukoencephalopathy with vanishing white matter, adult-onset | |
| 669 adrenal cortical tumor, somatic | |
| 669 adrenocortical tumor, somatic | |
| 670 ca/tu alloantigen polymorphism | |
| 670 mo alloantigen polymorphism | |
| 670 pen(a)/pen(b) alloantigen polymorphism | |
| 670 pl(a1)/(a2) alloantigen polymorphism | |
| 671 supranuclear palsy, progressive, 1 | |
| 671 supranuclear palsy, progressive, 1, atypical | |
| 672 hepatocellular carcinoma, childhood type, somatic | |
| 672 hepatocellular carcinoma, somatic | |
| 673 autoimmune polyendocrinopathy syndrome, type i | |
| 673 autoimmune polyendocrinopathy syndrome, type i, autosomal dominant | |
| 674 mct8 (slc16a2)-specific thyroid hormone cell transporter deficiency | |
| 674 mct8-specific thyroid hormone cell-membrane transporter deficiency | |
| 675 warburg micro syndrome 1 | |
| 675 warburg micro syndrome 2 | |
| 675 warburg micro syndrome 3 | |
| 675 warburg micro syndrome 4 | |
| 676 wilson disease | |
| 676 wilson's disease | |
| 677 van der woude syndrome 1 | |
| 677 van der woude syndrome 2 | |
| 678 17-alpha-hydroxylase/17,20-lyase deficiency | |
| 678 17-@alpha-hydroxylase/17,20-lyase deficiency, combined complete | |
| 678 17-@alpha-hydroxylase/17,20-lyase deficiency, combined partial | |
| 679 candidiasis, familial, 2 | |
| 679 candidiasis, familial, 4 | |
| 679 candidiasis, familial, 5 (1 family) | |
| 679 candidiasis, familial, 6 (1 family) | |
| 679 candidiasis, familial, 8 (1 family) | |
| 680 neuroblastoma, susceptibility to, 1 | |
| 680 neuroblastoma, susceptibility to, 2 | |
| 680 neuroblastoma, susceptibility to, 3 | |
| 681 bche, fluoride 1 | |
| 681 bche, fluoride 2 | |
| 682 sclerosteosis 1 | |
| 682 sclerosteosis 2 | |
| 683 hydrolethalus syndrome | |
| 683 hydrolethalus syndrome 2 (1 family) | |
| 684 asthma and atopy, susceptibility to | |
| 684 asthma susceptibility 1 | |
| 684 asthma susceptibility 2 | |
| 684 asthma susceptibility 5 | |
| 684 asthma, susceptibility to | |
| 684 atopic asthma, susceptibility to | |
| 685 spherocytosis type 2 | |
| 685 spherocytosis, type 2, autosomal dominant | |
| 685 spherocytosis type 5 | |
| 686 episodic pain syndrome, familial, 1 | |
| 686 episodic pain syndrome, familial, 2 | |
| 686 episodic pain syndrome, familial, 3 | |
| 687 van maldergem syndrome 1 | |
| 687 van maldergem syndrome 2 | |
| 688 craniodiaphyseal dysplasia, autosomal dominant | |
| 688 craniometaphyseal dysplasia, autosomal dominant | |
| 688 craniometaphyseal dysplasia, autosomal recessive | |
| 688 metaphyseal anadysplasia 1, autosomal dominant | |
| 688 metaphyseal anadysplasia 2, autosomal recessive (1 family) | |
| 689 porphyria, acute hepatic | |
| 689 porphyria, acute hepatic, digenic | |
| 690 2-@methylbutyryl-coa dehydrogenase deficiency | |
| 690 deficiency of butyryl-coa dehydrogenase | |
| 690 isobutyryl-coa dehydrogenase deficiency | |
| 690 isovaleryl-coa dehydrogenase deficiency | |
| 691 myoglobinuria, recurrent | |
| 691 myoglobinuria, recurrent, autosomal recessive | |
| 692 abo blood group system, a/b polymorphism | |
| 692 auberger blood group polymorphism au(a)/au(b) | |
| 692 colton blood group polymorphism | |
| 692 dombrock blood group system, do(a)/do(b) polymorphism | |
| 692 duffy blood group system, fya/fyb polymorphism | |
| 692 indian blood group system polymorphism | |
| 692 kell k/k blood group polymorphism | |
| 692 kidd blood polymorphism jk(a)/jk(b) | |
| 692 lutheran blood group polymorphism lu(a)/lu(b) | |
| 692 lw blood group system, lw(a)/lw(b) polymorphism | |
| 692 yt blood group polymorphism | |
| 693 congenital hypomyelinating neuropathy | |
| 693 neuropathy, congenital hypomyelinating, autosomal dominant | |
| 693 neuropathy, congenital hypomyelinating, autosomal recessive | |
| 694 dejerine-sottas disease | |
| 694 dejerine-sottas neuropathy | |
| 694 dejerine-sottas neuropathy, autosomal dominant | |
| 694 dejerine-sottas neuropathy, autosomal recessive | |
| 694 dejerine-sottas syndrome, autosomal dominant | |
| 694 dejerine-sottas syndrome, autosomal recessive | |
| 694 dejerine-sottas syndrome, sporadic | |
| 695 tyrosinase-negative oculocutaneous albinism | |
| 695 tyrosinase-positive oculocutaneous albinism | |
| 696 retinal dystrophy, early-onset severe | |
| 696 retinal dystrophy, early-onset severe, lrat-related | |
| 697 fanconi renotubular syndrome 2 | |
| 697 fanconi renotubular syndrome 3 (1 family) | |
| 698 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | |
| 698 hypotrichosis-lymphedema-telangiectasia syndrome | |
| 699 2-@aminoadipic 2-oxoadipic aciduria | |
| 699 aminoadipic aciduria | |
| 700 aspartylglucosaminuria | |
| 700 aspartylglucosaminuria, finnish type | |
| 700 aspartylglycosaminuria | |
| 701 cirrhosis, cryptogenic | |
| 701 cirrhosis, noncryptogenic, susceptibility to | |
| 702 retinitis pigmentosa, juvenile, aipl1-related | |
| 702 retinitis pigmentosa, juvenile, lrat-related | |
| 702 retinitis pigmentosa, juvenile, spata7-related | |
| 702 retinitis pigmentosa, juvenile, tulp1-related | |
| 703 acne inversa, familial, 1 | |
| 703 acne inversa, familial, 2 | |
| 703 acne inversa, familial, 3 | |
| 704 dowling-degos disease 1 | |
| 704 dowling-degos disease 2 | |
| 704 dowling-degos disease 4 | |
| 705 myasthenic syndrome, congenital, 10 | |
| 705 myasthenic syndrome, congenital, 12 | |
| 705 myasthenic syndrome, congenital, 13 | |
| 705 myasthenic syndrome, congenital, 14 | |
| 705 myasthenic syndrome, congenital, 15 (1 family) | |
| 705 myasthenic syndrome, congenital, 16 | |
| 705 myasthenic syndrome, congenital, 17 (1 family) | |
| 705 myasthenic syndrome, congenital, 19 | |
| 705 myasthenic syndrome, congenital, 5 | |
| 705 myasthenic syndrome, congenital, 8 | |
| 706 multi-minicore disease | |
| 706 multiminicore/minicore/multicore disease | |
| 707 senior-loken syndrome 1 | |
| 707 senior-loken syndrome 4 | |
| 707 senior-loken syndrome 5 | |
| 707 senior-loken syndrome 6 | |
| 707 senior-loken syndrome 7 | |
| 707 senior-loken syndrome 8 | |
| 708 fh afrikaner 1 | |
| 708 fh afrikaner 2 | |
| 708 fh afrikaner 3 | |
| 708 fh afrikaner 4 | |
| 709 apoe3(-)-freiburg | |
| 709 apoe4(-)-freiburg | |
| 710 factor v and factor viii, combined deficiency of, 1 | |
| 710 factor v and factor viii, combined deficiency of, 2 | |
| 710 factor v deficiency | |
| 710 factor vii deficiency | |
| 710 factor vii padua | |
| 710 factor x deficiency | |
| 710 factor xi deficiency | |
| 710 factor xii deficiency | |
| 710 factor xii (locarno) | |
| 710 factor xii (tenri) | |
| 711 branchiootic syndrome 1 | |
| 711 branchiootic syndrome 3 | |
| 712 antithrombin deficiency | |
| 712 antithrombin iii deficiency | |
| 712 thrombophilia due to antithrombin iii deficiency | |
| 713 nat1*10 allele | |
| 713 nat1*17 allele | |
| 714 uv-sensitive syndrome 1 | |
| 714 uv-sensitive syndrome 2 | |
| 714 uv-sensitive syndrome 3 | |
| 715 kenny-caffey syndrome, type 1 | |
| 715 kenny-caffey syndrome, type 2 | |
| 716 aortic valve disease 1 | |
| 716 aortic valve disease 2 | |
| 716 congenital atresia of aortic valve | |
| 717 fh vancouver 2 | |
| 717 fh vancouver 3 | |
| 717 fh vancouver 4 | |
| 717 fh vancouver 6 | |
| 718 fh cape town 1 | |
| 718 fh cape town 2 | |
| 719 retinitis punctata albescens | |
| 719 retinitis punctata albescens, autosomal dominant | |
| 720 papillorenal syndrome with macular abnormalities | |
| 720 papillorenal syndrome with mild ocular abnormalities | |
| 721 tay-sachs disease, juvenile | |
| 721 tay-sachs disease, juvenile/adult | |
| 722 popliteal pterygium syndrome | |
| 722 popliteal pterygium syndrome, lethal type | |
| 723 cleft lip/palate-ectodermal dysplasia syndrome | |
| 723 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | |
| 724 bilirubin, serum level of, quantitative trait locus 1 | |
| 724 interleukin 6, serum level of, quantitative trait locus | |
| 724 sodium serum level quantitative trait locus 1 | |
| 724 soluble interleukin-6 receptor, serum level of, quantitative trait locus | |
| 724 transferrin serum level quantitative trait locus 2 | |
| 725 hutchinson-gilford progeria syndrome | |
| 725 hutchinson-gilford progeria syndrome, atypical | |
| 725 hutchinson-gilford progeria syndrome, childhood-onset | |
| 725 hutchinson-gilford syndrome | |
| 725 progeria syndrome, childhood-onset | |
| 726 familial paroxysmal kinesigenic dyskinesia | |
| 726 paroxysmal nonkinesigenic dyskinesia 1 | |
| 727 hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency | |
| 727 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | |
| 728 hereditary factor ix deficiency disease | |
| 728 hereditary factor viii deficiency disease | |
| 728 hereditary factor xi deficiency disease | |
| 729 apoe2 variant | |
| 729 apoe3 variant | |
| 729 apoe4 variant | |
| 730 growth deficiency and mental retardation with facial dysmorphism | |
| 730 growth retardation, developmental delay, and facial dysmorphism | |
| 730 growth retardation, developmental delay, coarse facies, and early death | |
| 731 sarcoidosis, susceptibility to, 1 | |
| 731 sarcoidosis, susceptibility to, 2 | |
| 732 leigh's disease | |
| 732 leigh syndrome | |
| 733 secretor/nonsecretor polymorphism | |
| 733 secretor/nonsecretor polymorphism, japanese type | |
| 734 developmental delay | |
| 734 global developmental delay | |
| 735 lynch syndrome | |
| 735 lynch syndrome i | |
| 736 bloom's syndrome | |
| 736 bloom syndrome | |
| 737 adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic | |
| 737 nonsmall cell lung cancer, resistance to tyrosine kinase inhibitor in | |
| 737 nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic | |
| 738 optic nerve aplasia, bilateral | |
| 738 optic nerve hypoplasia, bilateral | |
| 739 gallbladder disease 1 | |
| 739 gallbladder disease 4 | |
| 740 hereditary persistence of fetal hemoglobin | |
| 740 hereditary persistence of fetal hemoglobin, klf1-related | |
| 741 anemia, hereditary sideroblastic | |
| 741 anemia, hereditary sideroblastic, late-onset | |
| 741 anemia, hereditary sideroblastic, pyridoxine refractory | |
| 741 anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | |
| 742 giant axonal neuropathy 1 | |
| 742 giant axonal neuropathy 2, autosomal dominant (1 family) | |
| 743 megaloblastic anemia 1 | |
| 743 megaloblastic anemia 1, finnish type | |
| 743 megaloblastic anemia 1, norwegian type | |
| 744 galactosialidosis | |
| 744 galactosialidosis, adult | |
| 745 autosomal recessive non-syndromic hearing loss | |
| 745 dfna 2 nonsyndromic hearing loss | |
| 745 dfnb 1 nonsyndromic hearing loss and deafness | |
| 745 non-syndromic hearing loss | |
| 745 nonsyndromic hearing loss and deafness, autosomal recessive | |
| 746 lactase persistence | |
| 746 lactate persistence | |
| 747 breast cancer, protection against | |
| 747 colorectal cancer, protection against | |
| 747 lung cancer, protection against | |
| 747 lung cancer, protection against, in smokers | |
| 748 albumin malmo-10 | |
| 748 albumin malmo-47 | |
| 748 albumin malmo-5 | |
| 748 albumin malmo-95 | |
| 748 proalbumin malmo | |
| 749 oculodentodigital dysplasia | |
| 749 oculodentodigital dysplasia, autosomal recessive | |
| 750 phosphoglycerate kinase 1 deficiency, afula | |
| 750 phosphoglycerate kinase 1 deficiency, alabama | |
| 750 phosphoglycerate kinase 1 deficiency, amiens | |
| 750 phosphoglycerate kinase 1 deficiency, barcelona | |
| 750 phosphoglycerate kinase 1 deficiency, fukuroi | |
| 750 phosphoglycerate kinase 1 deficiency, hamamatsu | |
| 750 phosphoglycerate kinase 1 deficiency, herlev | |
| 750 phosphoglycerate kinase 1 deficiency, matsue | |
| 750 phosphoglycerate kinase 1 deficiency, michigan | |
| 750 phosphoglycerate kinase 1 deficiency, munchen | |
| 750 phosphoglycerate kinase 1 deficiency, murcia | |
| 750 phosphoglycerate kinase 1 deficiency, shizuoka | |
| 750 phosphoglycerate kinase 1 deficiency, tokyo | |
| 750 phosphoglycerate kinase 1 deficiency, uppsala | |
| 750 phosphoglycerate kinase 1, pgk ii | |
| 751 cyp2e1*5b allele | |
| 751 cyp2e1*6 allele | |
| 752 schindler disease, type 1 | |
| 752 schindler disease, type i | |
| 752 schindler disease, type iii | |
| 753 neu-laxova syndrome 1 | |
| 753 neu-laxova syndrome 2 | |
| 754 syndactyly type 9 | |
| 754 syndactyly, type iii | |
| 754 syndactyly, type iv | |
| 754 syndactyly, type v | |
| 755 autoimmune disease, susceptibility to, 1 | |
| 755 autoimmune disease, susceptibility to, 6 | |
| 756 hereditary insensitivity to pain with anhidrosis | |
| 756 insensitivity to pain, congenital, with anhidrosis | |
| 757 history of neonatal hypotonia | |
| 757 neonatal hypotonia | |
| 758 brain malformation | |
| 758 severe brain malformation | |
| 759 malaria, cerebral, resistance to | |
| 759 malaria, cerebral, susceptibility to | |
| 759 malaria, resistance to | |
| 759 malaria, severe, resistance to | |
| 759 malaria, severe, susceptibility to | |
| 760 hemoglobin f (jamaica) | |
| 760 hemoglobin jamaica plain | |
| 761 epilepsy | |
| 761 epilepsy, familial focal, with variable foci | |
| 761 epilepsy, partial, with variable foci | |
| 761 focal epilepsy | |
| 762 pyruvate kinase deficiency | |
| 762 pyruvate kinase deficiency, amish type | |
| 763 nevus spilus, somatic | |
| 763 spitz nevus, somatic | |
| 764 myelodysplastic syndrome, somatic | |
| 764 myelodysplastic syndrome, susceptibility to | |
| 765 chediak-higashi syndrome | |
| 765 chédiak-higashi syndrome | |
| 765 chediak-higashi syndrome, adult type | |
| 765 chediak-higashi syndrome, childhood type | |
| 766 cystinosis, atypical nephropathic | |
| 766 cystinosis, nephropathic | |
| 766 cystinosis, ocular nonnephropathic | |
| 767 impdh2 enzyme activity, variation in | |
| 767 pon1 enzyme activity, variation in | |
| 768 epidermolytic hyperkeratosis | |
| 768 epidermolytic hyperkeratosis, late-onset | |
| 768 ichthyosis, cyclic, with epidermolytic hyperkeratosis | |
| 769 history of sudden cardiac death | |
| 769 sudden adult death syndrome | |
| 769 sudden cardiac death | |
| 769 sudden death | |
| 769 sudden infant death syndrome | |
| 770 g6pd mahidol | |
| 770 g6pd mahidol-like | |
| 771 coffin-lowry syndrome | |
| 771 coffin-lowry syndrome, mild | |
| 772 cleidocranial dysplasia | |
| 772 cleidocranial dysplasia, forme fruste | |
| 772 cleidocranial dysplasia, forme fruste, dental anomalies only | |
| 772 cleidocranial dysplasia, forme fruste, with brachydactyly | |
| 772 parietal foramina with cleidocranial dysplasia | |
| 773 cardiac conduction defect, nonprogressive | |
| 773 cardiac conduction defect, nonspecific | |
| 773 cardiac conduction defect, susceptibility to | |
| 773 cardiac conduction disease | |
| 774 insulin-like growth factor i deficiency | |
| 774 insulin-like growth factor ii polymorphism | |
| 774 insulin-like growth factor i, resistance to | |
| 775 griscelli syndrome, type 1 | |
| 775 griscelli syndrome, type 2 | |
| 775 griscelli syndrome, type 3 | |
| 776 aldosterone-producing adrenal adenoma, somatic | |
| 776 aldosterone producing adrenal cortex adenoma | |
| 777 sudden unexplained death | |
| 777 sudden unexplained nocturnal death syndrome | |
| 778 hyper-igd syndrome | |
| 778 hyper ige syndrome | |
| 778 hyper igm syndrome type 1 | |
| 778 hyper igm syndrome type 2 | |
| 778 hyper igm syndrome type 5 | |
| 779 dent disease | |
| 779 dent disease 1 | |
| 779 dent disease 2 | |
| 780 fh london 1 | |
| 780 fh london 2 | |
| 780 fh london 3 | |
| 780 fh london 4 | |
| 781 marinesco-sjogren syndrome | |
| 781 marinesco-sjögren syndrome | |
| 782 galactosialidosis, early infantile | |
| 782 galactosialidosis, late infantile | |
| 783 thrombophilia | |
| 783 thrombophilia due to thrombin defect | |
| 783 thrombophilia due to thrombomodulin defect | |
| 784 rhabdomyosarcoma | |
| 784 rhabdomyosarcoma, embryonal, 2 | |
| 784 rhabdomyosarcoma, somatic | |
| 785 spherocytosis, type 5, due to protein 4.2-hammersmith | |
| 785 spherocytosis, type 5, due to protein 4.2-lisboa | |
| 785 spherocytosis, type 5, due to protein 4.2-nippon | |
| 785 spherocytosis, type 5, due to protein 4.2-notame | |
| 785 spherocytosis, type 5, due to protein 4.2-tozeur | |
| 786 weissenbacher-zweymuller syndrome | |
| 786 weissenbacher-zweymuller syndrome, autosomal recessive | |
| 787 deafness and male infertility | |
| 787 infertility | |
| 787 male infertility | |
| 788 gm2-gangliosidosis, juvenile | |
| 788 juvenile gm>1< gangliosidosis | |
| 789 hemoglobin a(2) flatbush | |
| 789 hemoglobin albany-georgia | |
| 789 hemoglobin albany-suma | |
| 789 hemoglobin athens-georgia | |
| 789 hemoglobin c (georgetown) | |
| 789 hemoglobin flatbush (georgia) | |
| 789 hemoglobin g (georgia) | |
| 790 juvenile polyposis of infancy | |
| 790 juvenile polyposis of stomach | |
| 790 juvenile polyposis syndrome | |
| 790 polyposis, juvenile intestinal | |
| 791 triosephosphate isomerase deficiency | |
| 791 triosephosphate isomerase manchester | |
| 792 seizure | |
| 792 seizures | |
| 793 papillon-lefevre syndrome | |
| 793 papillon-lefèvre syndrome | |
| 794 choroideremia | |
| 794 choroideremia, salla type | |
| 795 autism | |
| 795 autism, susceptibility to, 15 | |
| 795 autism, susceptibility to, 16 (1 family) | |
| 795 autism, susceptibility to, 17 | |
| 795 autism, susceptibility to, 18 | |
| 795 autism, susceptibility to, 19 | |
| 796 nanophthalmos 2 | |
| 796 nanophthalmos 4 (1 family) | |
| 797 arylsulfatase a, allele a | |
| 797 arylsulfatase a deficiency | |
| 798 myopathy, myosin storage | |
| 798 myopathy, myosin storage, autosomal dominant | |
| 798 myopathy, myosin storage, autosomal recessive | |
| 799 hearing impairment | |
| 799 microtia, hearing impairment, and cleft palate (1 family) | |
| 799 microtia with or without hearing impairment (1 family) | |
| 800 central hypoventilation syndrome, congenital | |
| 800 central hypoventilation syndrome, congenital, with hirschsprung disease | |
| 800 central hypoventilation syndrome, late-onset | |
| 801 single ventricle | |
| 801 single ventricle defect | |
| 802 renal dysplasia | |
| 802 renal dysplasia, cystic, susceptibility to | |
| 803 fh osaka 2 | |
| 803 fh osaka 3 | |
| 804 pfeiffer syndrome | |
| 804 pfeiffer syndrome, type iii | |
| 805 kallmann syndrome 1 | |
| 805 kallmann syndrome 2 | |
| 806 fh paris 1 | |
| 806 fh paris 2 | |
| 806 fh paris 3 | |
| 807 congenital heart defects, multiple types, 1, x-linked | |
| 807 congenital heart defects, multiple types, 4 | |
| 807 congenital heart disease, multiple types, 2 | |
| 808 chondrocalcinosis 2 | |
| 808 chondrocalcinosis 2, sporadic | |
| 809 incontinentia pigmenti | |
| 809 incontinentia pigmenti, atypical | |
| 810 familial mediterranean fever | |
| 810 familial mediterranean fever, autosomal dominant | |
| 810 g6pd mediterranean | |
| 811 chromosome 17q12 deletion syndrome | |
| 811 chromosome 2q32-q33 deletion syndrome | |
| 811 chromosome 9q deletion syndrome | |
| 812 encephalopathy, neonatal severe | |
| 812 encephalopathy, neonatal severe, due to mecp2 mutation | |
| 813 ccr5 promoter polymorphism | |
| 813 cyp3a4 promoter polymorphism | |
| 814 short stature | |
| 814 yakut short stature syndrome | |
| 815 focal facial dermal dysplasia 3, setleis type | |
| 815 focal facial dermal dysplasia 4 | |
| 816 pycnodysostosis | |
| 816 pyknodysostosis | |
| 817 sjogren-larsson syndrome | |
| 817 sjögren-larsson syndrome | |
| 818 bietti crystalline corneoretinal dystrophy | |
| 818 bietti crystalline dystrophy | |
| 819 marfan syndrome, classic | |
| 819 marfan syndrome, severe classic | |
| 820 pulmonary stenosis | |
| 820 pulmonary valve stenosis (rare) | |
| 820 pulmonic stenosis | |
| 821 glioblastoma multiforme, somatic | |
| 821 glioblastoma, somatic | |
| 821 hepatoblastoma | |
| 821 hepatoblastoma, somatic | |
| 821 retinoblastoma | |
| 821 retinoblastoma, somatic | |
| 821 retinoblastoma, trilateral | |
| 822 pi null(granite falls) | |
| 822 pi q0(granite falls) | |
| 823 diaphyseal dysplasia | |
| 823 gnathodiaphyseal dysplasia | |
| 824 mephenytoin, poor metabolism of | |
| 824 phenytoin poor metabolizer | |
| 825 juvenile retinoschisis | |
| 825 retinoschisis 1, x-linked, juvenile | |
| 826 pseudoxanthoma elasticum | |
| 826 pseudoxanthoma elasticum, forme fruste | |
| 826 pseudoxanthoma elasticum, modifier of severity of | |
| 827 mycobacterium tuberculosis, protection against | |
| 827 mycobacterium tuberculosis, susceptibility to | |
| 827 mycobacterium tuberculosis, susceptibility to infection by | |
| 828 ornithine transcarbamylase deficiency | |
| 828 ornithine transcarbamylase polymorphism | |
| 829 mental retardation with language impairment | |
| 829 mental retardation with language impairment and autistic features | |
| 830 cyp2a6*11 | |
| 830 cyp2a6*12a | |
| 830 cyp2a6*3 | |
| 830 cyp2a6*4a | |
| 830 cyp2a6, v1 | |
| 830 cyp2a6, v2 | |
| 831 mcardle disease | |
| 831 mcardle disease, mild | |
| 832 heimler syndrome 1 | |
| 832 heimler syndrome 2 | |
| 833 g6pd kalyan | |
| 833 g6pd kerala | |
| 833 g6pd kerala-kalyan | |
| 834 fundus albipunctatus | |
| 834 fundus albipunctatus, autosomal recessive | |
| 835 malaria, mild, susceptibility to | |
| 835 malaria, susceptibility to | |
| 836 rippling muscle disease 2 | |
| 836 rippling muscle disease 2, autosomal recessive | |
| 837 adenylosuccinase deficiency | |
| 837 adenylosuccinate lyase deficiency | |
| 838 tay-sachs disease | |
| 838 tay sachs disease, mild | |
| 839 iminoglycinuria | |
| 839 iminoglycinuria, digenic | |
| 840 leprosy, susceptibility to, 3 | |
| 840 leprosy, susceptibility to, 5 | |
| 841 protein c deficiency | |
| 841 protein s deficiency | |
| 841 protein s heerlen | |
| 841 protein z deficiency | |
| 842 pi m(procida) | |
| 842 pi null(isola di procida) | |
| 842 pi null(procida) | |
| 842 pi q0(procida) | |
| 843 von hippel-lindau syndrome | |
| 843 von hippel-lindau syndrome, modifier of | |
| 844 goldberg-shprintzen megacolon syndrome | |
| 844 goldberg-shprintzen syndrome | |
| 845 g6pd iowa | |
| 845 g6pd iowa city | |
| 846 pi null(ludwigshafen) | |
| 846 pi q0(ludwigshafen) | |
| 847 jk-null variant | |
| 847 jk-null variant, finnish type | |
| 848 carnitine deficiency, systemic primary | |
| 848 primary carnitine deficiency | |
| 849 nucleoside phosphorylase deficiency | |
| 849 nucleoside phosphorylase polymorphism | |
| 850 three m syndrome 1 | |
| 850 three m syndrome 2 | |
| 850 three m syndrome 3 | |
| 851 3@m syndrome | |
| 851 3-m syndrome 2 | |
| 852 metaphyseal chondrodysplasia, mckusick type | |
| 852 metaphyseal chondrodysplasia, murk jansen type | |
| 852 metaphyseal chondrodysplasia, schmid type | |
| 853 brachydactyly, type b1robinow syndrome, autosomal recessive | |
| 853 robinow syndrome, autosomal recessive, with brachy-syn-polydactyly | |
| 854 hyper-ige recurrent infection syndrome, autosomal dominant | |
| 854 hyper-ige recurrent infection syndrome, autosomal recessive | |
| 855 hereditary nephrotic syndromes | |
| 855 neoplastic syndromes, hereditary | |
| 856 mitochondrial phosphate carrier deficiency | |
| 856 mitochondrial pyruvate carrier deficiency | |
| 857 hemoglobin andrew-minneapolis | |
| 857 hemoglobin minneapolis-laos | |
| 858 dihydropyrimidinase deficiency | |
| 858 dihydropyrimidine dehydrogenase deficiency | |
| 859 bilateral breast carcinoma | |
| 859 breast carcinoma | |
| 860 alport syndrome, autosomal recessive | |
| 860 alport syndrome, x-linked | |
| 860 alport syndrome, x-linked recessive | |
| 861 renal glucosuria | |
| 861 renal glucosuria, autosomal dominant | |
| 862 alcohol dependence, protection against | |
| 862 nicotine addiction, protection against | |
| 862 nicotine dependence, protection against | |
| 863 coproporphyria | |
| 863 coproporphyria, digenic | |
| 864 latent tuberculosis | |
| 864 tuberculosis, susceptibility to | |
| 865 osteosarcoma | |
| 865 osteosarcoma, somatic | |
| 866 glucocorticoid resistance, atypical | |
| 866 glucocorticoid resistance, cellular | |
| 866 glucocorticoid resistance, generalized | |
| 866 glucocorticoid resistance, mild | |
| 867 deficiency of glycerate kinase | |
| 867 glycerol kinase deficiency | |
| 868 large for gestational age | |
| 868 small for gestational age | |
| 869 auditory neuropathy | |
| 869 auditory neuropathy, autosomal dominant, 1 | |
| 869 auditory neuropathy, autosomal recessive, 1 | |
| 869 auditory neuropathy, autosomal recessive, 1, temperature-sensitive | |
| 869 optic atrophy 7 with or without auditory neuropathy | |
| 870 deafness, congenital, asymmetric | |
| 870 deafness, congenital, unilateral or asymmetric | |
| 871 congenital tufting enteropathy | |
| 871 diarrhea 5, with tufting enteropathy, congenital | |
| 872 absent or delayed speech development | |
| 872 delayed speech and language development | |
| 873 hypomyelination | |
| 873 hypomyelination and congenital cataract | |
| 874 congenital lactic acidosis | |
| 874 seizures and lactic acidosis | |
| 875 aceruloplasminemia | |
| 875 hypoceruloplasminemia | |
| 876 hydrocephalus, x-linked, with congenital idiopathic intestinal pseudoobstruction | |
| 876 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked | |
| 877 sulfite oxidase deficiency | |
| 877 sulfite oxidase deficiency, isolated | |
| 878 myelofibrosis | |
| 878 myelofibrosis, somatic | |
| 878 myelofibrosis with myeloid metaplasia, somatic | |
| 879 g6pd santiago | |
| 879 g6pd santiago de cuba | |
| 880 alpha-mannosidosis | |
| 880 deficiency of alpha-mannosidase | |
| 881 oguchi disease 1 | |
| 881 oguchi disease 2 | |
| 882 menkes disease | |
| 882 menkes disease, mild | |
| 883 roberts-sc phocomelia syndrome | |
| 883 sc phocomelia syndrome | |
| 884 celiac disease, susceptibility to, 3 | |
| 884 celiac disease, susceptibility to, 4 | |
| 885 pi null(bellingham) | |
| 885 pi q0(bellingham) | |
| 886 kabuki syndrome 1 | |
| 886 kabuki syndrome 2 | |
| 887 glioma susceptibility 1 | |
| 887 glioma susceptibility 2 | |
| 887 glioma susceptibility 3 | |
| 887 glioma susceptibility 9 | |
| 888 alzheimer disease, protection against | |
| 888 asthma, protection against | |
| 888 kuru, protection against | |
| 888 leprosy, protection against | |
| 888 metabolic syndrome, protection against | |
| 888 psoriasis, protection against | |
| 889 pyropoikilocytosis | |
| 889 pyropoikilocytosis, hereditary | |
| 890 dysprothrombinemia | |
| 890 dysprothrombinemia prothrombin himi-ii | |
| 890 hypoprothrombinemia | |
| 891 brain small vessel disease | |
| 891 brain small vessel disease with hemorrhage | |
| 892 dysmorphism | |
| 892 facial dysmorphism | |
| 893 bestrophinopathy | |
| 893 bestrophinopathy, autosomal recessive | |
| 894 colorblindness, deutan | |
| 894 colorblindness, protan | |
| 895 immunoglobulin a deficiency 2 | |
| 895 immunoglobulin a deficiency 2, autosomal recessive | |
| 896 bisphosphoglycerate mutase deficiency | |
| 896 bisphosphoglycerate mutase deficiency, erythrocytosis due to | |
| 897 nonsyndromic deafness | |
| 897 non-syndromic genetic deafness | |
| 898 dannon disease | |
| 898 danon disease | |
| 899 scid | |
| 899 scid/os | |
| 900 myopathy, reducing body, x-linked, late childhood-onset | |
| 900 reducing body myopathy, x-linked 1, severe, with infantile or early childhood onset | |
| 901 microcephaly, postnatal progressive, with seizures and brain atrophy | |
| 901 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | |
| 902 testicular teratoma, somatic | |
| 902 testicular tumor, somatic | |
| 903 pten hamartomatous tumour syndrome | |
| 903 pten hamartoma tumor syndrome | |
| 903 pten hamartoma tumor syndrome with granular cell tumor | |
| 904 persistent truncus arteriosus | |
| 904 truncus arteriosus | |
| 905 methionine adenosyltransferase deficiency, autosomal dominant | |
| 905 methionine adenosyltransferase deficiency, autosomal recessive | |
| 906 mandibulofacial dysostosis, guion-almeida type | |
| 906 mandibulofacial dysostosis with alopecia | |
| 907 noonan-like syndrome with loose anagen hair | |
| 907 noonan syndrome-like disorder with loose anagen hair | |
| 908 albumin vancouver | |
| 908 analbuminemia vancouver | |
| 909 proteus-like syndrome | |
| 909 proteus syndrome | |
| 910 cryohydrocytosis due to band 3 blackburn | |
| 910 cryohydrocytosis due to band 3 hemel | |
| 910 cryohydrocytosis due to band 3 hurstpierpoint | |
| 911 canavan disease | |
| 911 canavan disease, mild | |
| 912 pik3ca related overgrowth spectrum | |
| 912 pik3ca-related segmental overgrowth | |
| 913 hypouricemia, renal, 1 | |
| 913 hypouricemia, renal, 2, autosomal dominant | |
| 913 hypouricemia, renal, 2, autosomal recessive | |
| 914 hyperaldosteronism, familial, type iii | |
| 914 primary hyperaldosteronism | |
| 915 monocarboxylate transporter 1 deficiency, autosomal dominant | |
| 915 monocarboxylate transporter 1 deficiency, autosomal recessive | |
| 916 pi null(newport) | |
| 916 pi q0(newport) | |
| 917 apoe2 isoforms | |
| 917 apoe3 isoform | |
| 918 kosaki overgrowth syndrome | |
| 918 overgrowth | |
| 919 glycerol quantitative trait locus | |
| 919 memory quantitative trait locus | |
| 920 deafness, with smith-magenis syndrome | |
| 920 smith-magenis syndrome | |
| 921 pancreatic agenesis 1 | |
| 921 pancreatic agenesis and congenital heart defects | |
| 921 pancreatic and cerebellar agenesis | |
| 922 partial sensorineural deafness | |
| 922 piebaldism with sensorineural deafness | |
| 922 sensorineural deafness and migraine | |
| 923 citrullinemia, type ii, adult-onset | |
| 923 citrullinemia, type ii, neonatal-onset | |
| 924 porphyria, acute intermittent | |
| 924 porphyria, acute intermittent, nonerythroid variant | |
| 925 budd-chiari syndrome, susceptibility to | |
| 925 budd-chiari syndrome, susceptibility to, somatic | |
| 926 roussy-levy syndrome | |
| 926 roussy-lévy syndrome | |
| 927 adult i phenotype | |
| 927 cataract 13 with adult i phenotype | |
| 928 sandhoff disease | |
| 928 sandhoff disease, adult type | |
| 929 orm1*f1 | |
| 929 orm1*f2 | |
| 930 androgen resistance syndrome | |
| 930 estrogen resistance | |
| 931 single central maxillary incisor | |
| 931 single upper central incisor | |
| 931 solitary median maxillary central incisor | |
| 932 coloboma | |
| 932 coloboma, ocular | |
| 932 coloboma, ocular, autosomal recessive (1 family) | |
| 932 renal coloboma syndrome | |
| 933 diarrhea 6 | |
| 933 diarrhea 7 (1 family) | |
| 934 glut1 deficiency syndrome 1 | |
| 934 glut1 deficiency syndrome 2 | |
| 935 codeine, ultrarapid metabolism of | |
| 935 debrisoquine, poor metabolism of | |
| 935 debrisoquine, ultrarapid metabolism of | |
| 936 atrial standstill 1, digenic | |
| 936 atrial standstill 2 | |
| 937 sotos syndrome 1 | |
| 937 sotos syndrome 2 | |
| 938 fg syndrome | |
| 938 fg syndrome 2 | |
| 938 fg syndrome 4 | |
| 939 protein 4.1(68/65) | |
| 939 protein 4.1(95) | |
| 939 protein 4.1 lille | |
| 940 bruck syndrome 1 | |
| 940 bruck syndrome 2 | |
| 941 arterial tortuosity syndrome | |
| 941 retinal arteries, tortuosity of | |
| 942 hemoglobin zurich | |
| 942 hemoglobin zurich albisrieden | |
| 943 c2 deficiency | |
| 943 c2 deficiency, type i | |
| 943 c2 deficiency, type ii | |
| 944 marshall-smith syndrome | |
| 944 marshall syndrome | |
| 945 hemolytic anemia, cd59-mediated | |
| 945 hemolytic anemia, cd59-mediated, with immune-mediated polyneuropathy | |
| 946 acrofacial dysostosis 1, nager type | |
| 946 acrofacial dysostosis, cincinnati type | |
| 946 weyers acrofacial dysostosis | |
| 947 cortical dysplasia | |
| 947 cortical dysplasia-focal epilepsy syndrome | |
| 947 focal cortical dysplasia of taylor, type iib | |
| 948 atp6v0a2-related cutis laxa | |
| 948 efemp2-related cutis laxa | |
| 948 fbln5-related cutis laxa | |
| 949 hemoglobin abraham lincoln | |
| 949 hemoglobin lincoln park | |
| 950 osteopoikilosis | |
| 950 osteopoikilosis with melorheostosis | |
| 951 antichymotrypsin signal peptide polymorphism | |
| 951 apob polymorphism in signal peptide | |
| 952 fibrinogen lille 1 | |
| 952 fibrinogen lima | |
| 953 acrocallosal syndrome | |
| 953 acrocallosal syndrome, schinzel type | |
| 954 rett syndrome, congenital variant | |
| 954 rett syndrome, zappella variant | |
| 955 platelet glycoprotein ib polymorphism | |
| 955 platelet glycoprotein iv deficiency | |
| 956 dopamine receptor d4 polymorphism | |
| 956 leptin receptor polymorphism | |
| 956 thyrotropin receptor polymorphism | |
| 957 heparin cofactor ii deficiency | |
| 957 thrombophilia due to heparin cofactor ii deficiency | |
| 958 parkinson disease 15, autosomal recessive | |
| 958 parkinson disease 2, autosomal recessive juvenile | |
| 959 aromatase deficiency | |
| 959 aromatase excess syndrome | |
| 960 hypotonia | |
| 960 marked hypotonia | |
| 960 truncal hypotonia | |
| 961 plasma triglyceride level quantitative trait locus, low | |
| 961 vitamin b12 plasma level quantitative trait locus 1 | |
| 962 obsessive-compulsive disorder, protection against | |
| 962 obsessive-compulsive disorder, susceptibility to | |
| 963 nevus sebaceous, somatic | |
| 963 sebaceous tumors, somatic | |
| 964 erythermalgia, primary | |
| 964 primary erythromelalgia | |
| 965 chondrosarcoma, somatic | |
| 965 chondrosarcoma, sporadic | |
| 966 corpus callosum agenesis | |
| 966 corpus callosum, agenesis of, with abnormal genitalia | |
| 966 corpus callosum, partial agenesis of, x-linked | |
| 967 amegakaryocytic thrombocytopenia, congenital | |
| 967 radioulnar synostosis with amegakaryocytic thrombocytopenia | |
| 968 laron syndrome with elevated serum gh-binding protein | |
| 968 laron syndrome with undetectable serum gh-binding protein | |
| 969 adrenoleukodystrophy | |
| 969 leukodystrophy | |
| 969 ovarioleukodystrophy | |
| 969 pseudoneonatal adrenoleukodystrophy | |
| 970 fh turkey | |
| 970 fh turku | |
| 971 fibrinogen metz 1 | |
| 971 fibrinogen milano 1 | |
| 971 fibrinogen milano xii, digenic | |
| 971 fibrinogen munich 1 | |
| 971 fibrinogen rouen 1 | |
| 972 bche*390v | |
| 972 che*390v | |
| 973 blood group--lutheran inhibitor | |
| 973 blood group--lutheran null | |
| 974 ovarian hyperstimulation syndrome | |
| 974 ovarian hyperstimulation syndrome, modifier of severity of | |
| 975 congenital cystic disease of liver | |
| 975 polycystic liver disease | |
| 976 arrhythmia | |
| 976 cardiac arrhythmia | |
| 977 albumin larino | |
| 977 albumin torino | |
| 978 pi null(cardiff) | |
| 978 pi q0(cardiff) | |
| 979 reclassified - calcitonin polymorphism | |
| 979 reclassified - rp1 gene polymorphism | |
| 979 reclassified - tyrosinase polymorphism | |
| 980 adrenal adenoma, somatic | |
| 980 hepatic adenoma, somatic | |
| 981 ectopia lentis et pupillae | |
| 981 familial ectopia lentis | |
| 982 hemoglobin saratoga springs | |
| 982 hemoglobin silver springs | |
| 983 hyperbilirubinemia | |
| 983 hyperbilirubinemia, rotor type, digenic | |
| 983 hyperbiliverdinemia | |
| 984 hemoglobin sarrebourg | |
| 984 hemoglobin strasbourg | |
| 985 congenital short bowel syndrome | |
| 985 congenital short bowel syndrome, x-linked | |
| 986 aarskog-scott syndrome | |
| 986 aarskog syndrome | |
| 987 oca1 | |
| 987 oca1a | |
| 988 hemoglobin m (hyde park) | |
| 988 hemoglobin park ridge | |
| 989 dominant hereditary optic atrophy | |
| 989 optic atrophy and cataract, autosomal dominant | |
| 990 chronic myeloid leukemia | |
| 990 chronic myeloid leukemia, resistant to imatinib | |
| 991 hypercholesterolemia and hypertriglyceridemia, type iii | |
| 991 hypertriglyceridemia, susceptibility to | |
| 992 wolff-parkinson-white syndrome | |
| 992 wolff-parkinson-white syndrome, childhood-onset | |
| 993 men2a and unclassified | |
| 993 men2 phenotype: unclassified | |
| 994 achalasia-addisonianism-alacrima syndrome | |
| 994 achalasia-alacrima syndrome | |
| 995 plasminogen activator inhibitor-1 deficiency | |
| 995 transcription of plasminogen activator inhibitor, modulator of | |
| 996 transcobalamin ii deficiency | |
| 996 transcolabamin ii deficiency | |
| 997 deafness, autosomal dominant, with peripheral neuropathy | |
| 997 peripheral neuropathy | |
| 998 hemoglobin arlington park | |
| 998 hemoglobin i (burlington) | |
| 999 nor polyagglutination syndrome | |
| 999 tn polyagglutination syndrome, somatic | |
| 1000 hdl deficiency, detroit type | |
| 1000 hprt detroit | |
| 1001 costello syndrome | |
| 1001 costello syndrome, severe | |
| 1002 retinal dystrophy and iris coloboma with or without cataract (1 family) | |
| 1002 retinal dystrophy, iris coloboma, and comedogenic acne syndrome | |
| 1003 dystransthyretinemic hyperthyroxinemia | |
| 1003 hyperthyroxinemia, familial dysalbuminemic | |
| 1004 21-@hydroxylase polymorphism | |
| 1004 bleomycin hydrolase polymorphism | |
| 1004 epoxide hydrolase polymorphism | |
| 1005 multiple pterygium syndrome escobar type | |
| 1005 multiple pterygium syndrome, lethal type | |
| 1006 triphalangeal thumb | |
| 1006 triphalangeal thumb-polysyndactyly syndrome | |
| 1007 obesity, severe | |
| 1007 obesity, severe, and type ii diabetes | |
| 1008 pi, m1a | |
| 1008 pi, m1v | |
| 1009 alpp*1 | |
| 1009 alpp*3 | |
| 1010 pi z | |
| 1010 pi z(tun) | |
| 1011 dfnb86 | |
| 1011 dfnb89 | |
| 1012 bent bone dysplasia syndrome | |
| 1012 gracile bone dysplasia | |
| 1013 pi null(bolton) | |
| 1013 pi q0(bolton) | |
| 1014 ichthyosis, x-linked | |
| 1014 x-linked ichthyosis with steryl-sulfatase deficiency | |
| 1015 progerin-producing progeroid laminopathy | |
| 1015 progeroid laminopathies | |
| 1016 fh nashville | |
| 1016 g6pd nashville | |
| 1017 mccune-albright syndrome | |
| 1017 mccune-albright syndrome, somatic, mosaic | |
| 1018 hemoglobin villejuif | |
| 1018 hemoglobin villeurbanne |
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