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fraser syndrome|C0265233 mental retardation, autosomal recessive 33 |C0025362 mental retardation, x-linked syndromic, lubs type|C0039082 glaucoma 3, primary congenital, c |C1962986 hypocalciuric hypercalcemia, type ii |C3875492 meningioma, nf2-related, somatic|C0445223 burkitt lymphoma|C0006413 spinocerebellar ataxia 29, congenital nonprogressive|C3839460 chromosome 2q31.1 duplication syndrome |C3150940 lymphocytic leukemia, acute t-cell |C0023448 myopathy, distal 3 |C0026848 hdl deficiency, type 2|C0162429 3-methylcrotonyl-coa carboxylase 1 deficiency|C0268600 bone marrow failure, familial|C0030312 favism|C0015702 mental retardation, x-linked 3 (methylmalonic acidemia and homocysteinemia, cblx type )|C3495426 baller-gerold syndrome|C0265308 systemic lupus erythematosus, susceptibility to, 7 |C0024141 johanson-blizzard syndrome|C0175692 pulmonary function |C3160731 mitochondrial respiratory chain complex ii deficiency|C0162429 trypsinogen deficiency|C0268417 mental retardation, autosomal recessive 32 |C0025362 psoriasis susceptibility 5 |C1858536 thrombophilia due to decreased release of tissue plasminogen |C0398623 rubinstein-taybi syndrome 2|C3150941 dentinogenesis imperfecta, shields type ii|C0011436 major affective disorder-8, susceptibility to |C2700439 hutchinson-gilford progeria|C0033300 hypotrichosis and recurrent skin vesicles|C3814530 chromosome 19q13.11 deletion syndrome |C2751651 cataract 14, multiple types|C0086543 systemic lupus erythematosus, susceptibility to, 8 |C0024141 angioedema induced by ace inhibitors, susceptibility to|C0002994 ectodermal dysplasia-syndactyly syndrome 2 |C3150809 microcephaly 8, primary, autosomal recessive|C0025958 xfe progeroid syndrome|C1970416 lissencephaly, x-linked|C0266463 obesity, susceptibility to, bmiq7 |C2675358 systemic lupus erythematosus, susceptibility to, 4 |C0024141 congenital disorder of glycosylation, type iil|C0242354 spondyloepiphyseal dysplasia with congenital joint dislocations|C0009701 congenital disorder of glycosylation, type iim|C0751356 myopia 23, autosomal recessive|C0027092 congenital disorder of glycosylation, type iij|C0242354 harp syndrome|C1846582 pulmonary fibrosis, idiopathic, susceptibility to|C0034069 congenital disorder of glycosylation, type iik|C0242354 congenital disorder of glycosylation, type iih|C0242354 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive|C0020620 neurofibromatosis, type 1|C0162678 child syndrome|C0265267 congenital disorder of glycosylation, type iii|C0242354 neurofibromatosis, type 2|C0162678 spastic paraplegia 25, autosomal recessive |C0037772 intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to|C0158638 image syndrome|C1846009 corneal intraepithelial dyskeratosis and ectodermal dysplasia|C0013575 pancreatic carcinoma, somatic|C0235974 hypoparathyroidism, familial isolated|C1761227 hypocalciuric hypercalcemia, familial, type iii|C3875492 male infertility due to acrosin deficiency |C0162429 systemic lupus erythematosus, susceptibility to, 5 |C0024141 mental retardation, x-linked 50 |C3843766 glycogen storage disease ixc|C2751643 myopathy, hyaline body |C0333440 osteopetrosis, autosomal recessive 4|C0029454 facial paresis, hereditary congenital, 3|C0427055 osteopetrosis, autosomal recessive 5|C0029454 spastic paraplegia 18, autosomal recessive|C0037772 osteopetrosis, autosomal recessive 6|C0029454 cerebral palsy, spastic quadriplegic, 1|C0026838 mucopolysaccharidosis type iiid|C0086650 osteopetrosis, autosomal recessive 1|C0029454 cardiac conduction defect, nonspecific|C0264886 cerebral palsy, spastic quadriplegic, 2|C0026838 osteopetrosis, autosomal recessive 2|C0029454 spinal and bulbar muscular atrophy of kennedy|C0541794 renal cell carcinoma, papillary, 1, familial and somatic|C3816745 osteopetrosis, autosomal recessive 7|C0029454 osteopetrosis, autosomal recessive 8|C0029454 macular dystrophy, north carolina type |C0730292 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia|C0349639 hypoparathyroidism, sensorineural deafness, and renal dysplasia|C0235831 obesity, morbid, due to leptin receptor deficiency|C3554225 wolfram-like syndrome, autosomal dominant|C0039082 diarrhea 5, with tufting enteropathy, congenital|C0021831 epilepsy, x-linked, with variable learning disabilities and behavior disorders|C0149654 nicotine dependence, susceptibility to|C0028043 double-outlet right ventricle|C0013069 hellp syndrome, maternal, of pregnancy|C0162739 ichthyosis, x-linked|C0020757 deafness, cataract, retinitis pigmentosa, and sperm abnormalities |C0000768 chanarin-dorfman syndrome|C0268238 mucopolysaccharidosis type ix|C1291490 macular corneal dystrophy|C0024439 prostate cancer 1|C0376358 hyperlysinemia|C0268553 leukoencephalopathy with dystonia and motor neuropathy|C0235025 paramyotonia congenita|C0221055 angiopathy, hereditary, with nephropathy, aneurysms, and muscle|C0002940 maturity-onset diabetes of the young 6|C0011860 catshl syndrome|C1864852 central hypoventilation syndrome, congenital|C0520680 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation|C0025362 sars, progression of |C0242656 homocystinuria due to mthfr deficiency|C1856058 immunodeficiency, common variable, 5|C0021051 galactokinase deficiency with cataracts|C0086543 immunodeficiency, common variable, 6|C0021051 adams-oliver syndrome 1|C0265268 immunodeficiency, common variable, 3|C3838680 adams-oliver syndrome 2|C3280182 immunodeficiency, common variable, 4|C0021051 adams-oliver syndrome 3|C3553748 erythrocytosis |C1527405 immunodeficiency, common variable, 9|C0021051 adams-oliver syndrome 4|C3809092 dimethylglycine dehydrogenase deficiency|C1853892 hyperimmunoglobulin g1 syndrome |C1334069 immunodeficiency, common variable, 7|C0021051 macrocephaly, macrosomia, facial dysmorphism syndrome|C0039082 bietti crystalline corneoretinal dystrophy|C1859486 cold-induced autoinflammatory syndrome, familial|C3890737 immunodeficiency, common variable, 1|C3816745 psoriasis susceptibility 13|C0033860 immunodeficiency, common variable, 2|C3833492 porokeratosis 2, palmar, plantar, and disseminated |C0949506 retinoblastoma, trilateral|C0035335 brachydactyly-syndactyly syndrome|C1853137 microcephaly, postnatal progressive, with seizures and brain atrophy|C0235946 wilms tumor, type 4 |C0027708 aneurysm, familial abdominal 3 |C0002940 sarcoidosis, susceptibility to, 1|C3816745 cataract 2, multiple types|C0086543 osteopathia striata with cranial sclerosis|C1845805 sarcoidosis, susceptibility to, 2|C3833492 synpolydactyly with foot anomalies|C0016508 benzene toxicity, susceptibility to |C0600688 hypothyroidism, congenital, nongoitrous|C0020676 pancreatic cancer, susceptibility to, 3|C3838680 leukemia, post-chemotherapy, susceptibility to |C0023418 pancreatic cancer, susceptibility to, 4|C0346647 weill-marchesani syndrome 2, dominant|C1869115 tarp syndrome|C1839463 porphyria cutanea tarda, susceptibility to|C0162566 dementia, familial danish|C0011265 pancreatic cancer, susceptibility to, 1|C3816745 obesity, susceptibility to, bmiq11|C2678155 cpt deficiency, hepatic, type ia|C0162429 obesity, susceptibility to, bmiq12|C2676498 nasopharyngeal carcinoma|C2931822 kufor-rakeb syndrome|C1847640 hypogonadism, hypergonadotropic |C0020619 sc phocomelia syndrome|C0392475 rapid progression to aids from hiv1 infection|C0276500 coach syndrome|C1857662 cpt deficiency, hepatic, type ii|C0162429 focal facial dermal dysplasia 3, setleis type|C2936827 obesity, susceptibility to, bmiq18|C3714940 diaphyseal medullary stenosis with malignant fibrous histiocytoma |C0334463 pancreatitis, chronic, susceptibility to|C1963198 eosinophil peroxidase deficiency|C1850000 hypophosphatasia, adult|C0020630 otospondylomegaepiphyseal dysplasia|C1855310 hodgkin lymphoma|C0019829 wilms tumor, type 3 |C0027708 nystagmus 3, congenital |C0028738 psoriasis, generalized pustular|C0033860 hyper-igd syndrome|C0398691 leprosy, paucibacillary type, susceptibility to |C0023343 wolfram syndrome|C0043207 epilepsy, juvenile myoclonic, susceptibility to|C0014544 psoriasis susceptibility 3 |C1832345 enuresis, nocturnal|C0270327 inflammatory bowel disease 9 |C1838019 hypogonadotropic hypogonadism 10 with or without anosmia|C0003126 mckusick-kaufman syndrome|C0948368 optic nerve hypoplasia|C0338502 baraitser-winter syndrome 1|C1855722 insomnia, fatal familial|C1705232 revesz syndrome|C1327916 baraitser-winter syndrome 2|C3281235 albinism, oculocutaneous, type ib|C0001916 epilepsy, idiopathic generalized, susceptibility to, 2 |C3833492 albinism, oculocutaneous, type ia|C0001916 naegeli-franceschetti-jadassohn syndrome|C0343111 drug-induced liver injury due to flucloxacillin |C0860207 hystrix-like ichthyosis with deafness|C0011053 multiple myeloma, resistance to|C0026764 c syndrome|C0796095 branchiootic syndrome 1|C1865143 microcephaly 3, primary, autosomal recessive|C0025958 hepatocellular carcinoma|C2239176 inflammatory bowel disease 8 |C1847719 hypercholesterolemia, due to ligand-defective apo b|C1522133 breast cancer |C0006142 myopathy, centronuclear, autosomal recessive|C0026848 colorectal cancer|C1527249 inclusion body myopathy, autosomal recessive|C1833672 arrhythmogenic right ventricular dysplasia, familial, 13|C0349788 li-fraumeni syndrome|C0085390 lung cancer, protection against|C1545588 epilepsy, idiopathic generalized, susceptibility to, 3 |C3838680 syndactyly, type v|C0039075 mcleod syndrome with or without chronic granulomatous disease|C0018203 mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy)|C1852374 inflammatory bowel disease 7 |C1854573 inflammatory bowel disease 6 |C1847692 kleefstra syndrome|C0795833 striatal degeneration, autosomal dominant|C0011164 aromatase excess syndrome|C1970109 arthrogryposis, lethal, with anterior horn cell disease|C0154681 glaucoma 1d, primary open angle |C0429524 czech dysplasia|C1836683 neuropathy, congenital hypomyelinating|C0442874 46xy sex reversal 4 |C4022995 peroxisome biogenesis disorder 4a (zellweger)|C0282528 otofaciocervical syndrome|C1833691 hypogonadotropic hypogonadism 17 with or without anosmia|C0003126 sarcosinemia|C0268563 short-rib thoracic dysplasia 8 with or without polydactyly|C0152427 otodental dysplasia chromsome deletion syndrome |C0039082 bernard-soulier syndrome, type a2 (dominant)|C0005129 hereditary motor and sensory neuropathy vi|C0393807 spondyloepiphyseal dysplasia tarda|C0038015 albinism, oculocutaneous, type iv|C0001916 inflammatory bowel disease 5 |C1853438 osteopetrosis, autosomal recessive 3, with renal tubular acidosis|C0001126 band-like calcification with simplified gyration and polymicrogyria|C0266464 diabetes mellitus, insulin-dependent, 2|C3833492 mucolipidosis iii gamma|C1854896 pepck deficiency, mitochondrial|C0162429 diabetes mellitus, insulin-dependent, 5|C0011849 sublingual nitroglycerin, susceptibility to poor response to |C1704632 trichothiodystrophy, nonphotosensitive 1|C1955934 corpus callosum, partial agenesis of|C0332908 acromegaloid features, overgrowth, cleft palate, and hernia |C0019270 spastic paraplegia 34, x-linked |C0037772 albinism, oculocutaneous, type ii|C0001916 copd, rate of decline of lung function in|C0024117 fils syndrome|C0039082 rett syndrome, preserved speech variant|C0035372 corneal dystrophy, hereditary polymorphous posterior|C0010036 charcot-marie-tooth neuropathy, x-linked dominant, 1|C1847879 phosphoglycerate kinase 1 deficiency|C1970848 hyperalphalipoproteinemia|C0342883 peters anomaly|C1704258 inflammatory bowel disease 4 |C1847691 epilepsy, nocturnal frontal lobe, type 4|C0014544 atypical mycobacteriosis, familial|C0026918 dermatopathia pigmentosa reticularis|C0406778 psoriasis susceptibility 8 |C1853143 leukemia, acute myeloid, susceptibility to|C0023418 acth-independent macronodular adrenal hyperplasia|C1857451 bone marrow failure, telomere-related, 1|C0445223 chromosome 18q deletion syndrome |C0432443 ciliary dyskinesia, primary, 1, with or without situs inversus|C0037221 mental retardation, x-linked 98|C0025362 mental retardation, x-linked 97|C0025362 diabetes mellitus, neonatal, with congenital hypothyroidism|C0010308 mental retardation, x-linked 94|C0025362 mental retardation, x-linked 93|C0025362 omodysplasia 1|C1850318 mental retardation, x-linked 96|C0025362 epilepsy, juvenile myoclonic |C0014544 kohlschutter-tonz syndrome|C0406740 mental retardation, x-linked 90|C3842582 mental retardation, x-linked 91|C0025362 medullary thyroid carcinoma|C0238462 microtia, hearing impairment, and cleft palate (ar)|C2986463 carboxylesterase 1 deficiency |C3888201 inflammatory bowel disease 3 |C1858303 anterior segment mesenchymal dysgenesis|C1862839 coffin-lowry syndrome|C0265252 hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency|C0268621 thromboxane synthase deficiency|C0162429 craniofacioskeletal syndrome |C2678036 thrombophilia due to thrombin defect|C0398623 complement factor h deficiency|C0398777 hypomyelination with brainstem and spinal cord involvement and leg spasticity|C1271100 congenital disorder of glycosylation, type iif|C0242354 gustavson syndrome |C0795965 congenital disorder of glycosylation, type iig|C0242354 coronary artery disease, susceptibility to |C0010054 congenital disorder of glycosylation, type iid|C0242354 congenital disorder of glycosylation, type iie|C0242354 congenital disorder of glycosylation, type iib|C0242354 congenital disorder of glycosylation, type iic|C0242354 systemic lupus erythematous, association with susceptibility to, 6|C0409974 congenital disorder of glycosylation, type iia|C0242354 stocco dos santos x-linked mental retardation syndrome|C1845530 aids, slow progression to|C1854494 ataxia, cerebellar, cayman type|C0007758 chediak-higashi syndrome|C0007965 inflammatory bowel disease 2 |C1832321 choriodal dystrophy, central areolar 2|C0333606 mental retardation, autosomal recessive 31 |C0025362 nonsmall cell lung cancer, susceptibility to|C0007131 renal cell carcinoma, papillary, 1|C3816745 terminal osseous dysplasia|C1846129 epidermolysis bullosa dystrophica, ar|C2986463 mental retardation, x-linked 72|C0025362 delta-beta thalassemia|C0271985 immunodeficiency 7, tcr-alpha/beta deficient|C3809332 vitiligo-associated multiple autoimmune disease susceptibility 1|C0012634 resistance to malaria due to g6pd deficiency|C2939465 mental retardation, x-linked syndromic, raymond type|C0039082 inflammatory bowel disease 10|C1970207 cataract 28, age-related cortical, susceptibility to |C0445223 galactose epimerase deficiency|C0751161 complement component 4, partial deficiency of|C0162429 leukemia, acute myeloid, reduced survival in|C0023418 inflammatory bowel disease 13|C2677101 inflammatory bowel disease 14|C2677100 myelodysplastic syndrome |C3463824 geroderma osteodysplasticum|C0432255 inflammatory bowel disease 19|C2677079 mandibuloacral dysplasia|C0432291 mental retardation, autosomal recessive 30 |C3842588 homocystinuria-megaloblastic anemia, cbl e type|C3844615 epilepsy, idiopathic generalized, susceptibility to, 1 |C3816745 epidermolysis bullosa simplex, weber-cockayne type|C0080333 myasthenia gravis, neonatal transient |C0026896 combined factor v and viii deficiency|C0162429 epidermolysis bullosa dystrophica, ad|C0079294 mental retardation, x-linked 63|C0025362 alcohol dependence, susceptibility to|C0001973 waisman parkinsonism-mental retardation syndrome |C0025362 n-acetylaspartate deficiency|C3279716 neuropathy, hereditary sensory and autonomic, type v|C0442874 hamamy syndrome|C1970027 aural atresia, congenital|C0243066 hypercalcemia, infantile|C0020437 chromosome 1q41-q42 deletion syndrome |C2675857 epilepsy, idiopathic generalized, susceptibility to, 11|C0014544 multiple pterygium syndrome, lethal type|C3151529 muscular dystrophy, congenital|C0026850 larsen-like syndrome |C0039082 palmoplantar keratoderma, nonepidermolytic, focal|C0022596 candidiasis, familial|C0006840 melanoma, uveal, susceptibility to, 2 |C3833492 carnosinemia |C3495555 cubitus valgus with mental retardation and unusual facies |C0424503 apolipoprotein a-ii deficiency |C3888202 dentin dysplasia, type i, with microdontia and misshapen teeth|C0040427 spastic paraplegia 16, x-linked, complicated |C0037772 colorectal cancer, hereditary nonpolyposis, type 7|C1527249 familial mediterranean fever, ad|C0031069 hypocalciuric hypercalcemia, type ii|C3875492 sesame syndrome|C2748572 tuberculin skin test reactivity, absence of |C1689985 colorectal cancer, hereditary nonpolyposis, type 6|C1527249 autism susceptibility 5 |C0004352 colorectal cancer, hereditary nonpolyposis, type 5|C1527249 gillespie syndrome|C0812437 colorectal cancer, hereditary nonpolyposis, type 4|C1527249 cleft lip/palate-ectodermal dysplasia syndrome|C2931488 spastic paraplegia 6, autosomal dominant|C0037772 cyanosis, transient neonatal|C0010520 neuropathy, inflammatory demyelinating|C0442874 colorectal cancer, hereditary nonpolyposis, type 8|C1527249 hereditary motor and sensory neuropathy, type iic|C0027888 opitz gbbb syndrome, type ii |C1801950 congenital cataracts, hearing loss, and neurodegeneration|C0027746 colorectal cancer, hereditary nonpolyposis, type 2|C1527249 colorectal cancer, hereditary nonpolyposis, type 1|C1527249 familial mediterranean fever, ar|C2986463 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency|C2936858 melanoma, uveal, susceptibility to, 1 |C3816745 adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|C0271623 periventricular nodular heterotopia 3 |C1842562 hypogonadotropic hypogonadism 6 with or without anosmia|C0003126 congenital myopathy with excess of muscle spindles|C0270960 hyperaldosteronism, familial, type iii|C0020428 porokeratosis 3, disseminated superficial actinic|C0162839 autism susceptibility 6 |C0004352 leukemia, acute nonlymphocytic |C0023418 multiple system atrophy, susceptibility to|C0393571 short-rib thoracic dysplasia 2 with or without polydactyly|C0152427 pigment dispersion syndrome |C1271398 chromosome 1p36 deletion syndrome |C1842870 lung cancer susceptibility 2|C2677571 diabetes mellitus, insulin-dependent|C0011849 endometrial carcinoma |C0476089 3-hydroxyisobutryl-coa hydrolase deficiency|C3838680 marshall-smith syndrome|C0265211 neurodegeneration with optic atrophy, childhood onset|C1837352 meckel syndrome, type 11|C3714506 muscular dystrophy, rigid spine, 1|C3816745 periodic fever, menstrual cycle dependent|C0015974 cataract, juvenile, with microcornea and glucosuria|C0017979 myopia 6|C1837148 choreoacanthocytosis|C0393576 autism susceptibility 7 |C0004352 oculomotor apraxia, congenital, cogan-type |C0271270 gastrointestinal stromal tumor, somatic|C0238198 atrial septal defect 1 |C1862389 craniosynostosis and dental anomalies|C0262444 scaphocephaly and axenfeld-rieger anomaly |C0266548 cataract 40, x-linked|C4049004 corneal dystrophy, congenital stromal|C0010036 ichthyosis, autosomal recessive 4b (harlequin)|C0020757 chromosome 22q11.2 deletion syndrome, distal |C0012236 schizencephaly|C0266484 waardenburg syndrome/ocular albinism, digenic|C0078917 albinism, oculocutaneous, type ii, modifier of|C0001916 tukel syndrome |C1836217 alkaptonuria|C0002066 acrodermatitis enteropathica|C0221036 adenocarcinoma, ovarian, somatic|C0001418 d-2-hydroxyglutaric aciduria 2|C3150909 adenosine deaminase deficiency, partial|C0268124 autism susceptibility 8 |C0004352 cat eye syndrome |C0265493 diabetes mellitus, permanent neonatal, with neurologic features|C0011849 hypermanganesemia with dystonia, polycythemia, and cirrhosis|C1623038 alpha-thalassemia/mental retardation syndrome|C0475813 alopecia-mental retardation syndrome 1 |C1859878 male pseudohermaphroditism due to defective lh |C0238395 myeloproliferative disorder |C0027022 2-aminoadipic 2-oxoadipic aciduria|C1859817 toxic epidermal necrolysis, susceptibility to|C0014518 cardiomyopathy, familial hypertrophic 17|C0020564 chromosome 16p11.2 deletion syndrome, 220kb |C3697355 cerebral infarction, susceptibility to|C0007785 aids, delayed/rapid progression to|C1838681 costello syndrome|C0587248 hereditary motor and sensory neuropathy v |C0037773 alport syndrome, autosomal recessive|C1567741 pancreatitis, hereditary|C1963198 fibrocalculous pancreatic diabetes, susceptibility to|C0271642 hypophosphatemic rickets, ar|C2986463 frontotemporal lobar degeneration, tardbp-related|C0445223 alopecia-mental retardation syndrome 2 |C1835852 cutis laxa, autosomal dominant 2|C0010495 spermatogenic failure, susceptibility to |C3553794 peeling skin syndrome, acral type|C1849193 corneal clouding, autosomal recessive |C0010038 ectodermal dysplasia 9, hair/nail type|C0013575 kindler syndrome|C0406557 muscular dystrophy, congenital, due to itga7 deficiency|C0162429 krabbe disease|C0023521 lacticacidemia due to pdx1 deficiency|C0162429 anemia, x-linked, with/without neutropenia and/or platelet abnormalities|C0151854 gray platelet syndrome|C0272302 diabetes mellitus, insulin-dependent, susceptibility to|C0011849 pregnancy loss, susceptibility to |C0687675 alopecia-mental retardation syndrome 3 |C3151362 hematuria, benign familial|C0018965 dystonia-7, torsion |C1265748 mitochondrial phosphate carrier deficiency|C1835845 metaphyseal chondrodysplasia, schmid type|C0265290 keutel syndrome|C1855607 opioid dependence, susceptibility to|C0524662 complement factor i deficiency|C3463916 donnai-barrow syndrome|C1857277 leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation|C0748903 epidermolysis bullosa dystrophica, autosomal recessive, modifier of|C0079294 chromosome 2p16.1-p15 deletion syndrome |C2675875 facioscapulohumeral muscular dystrophy 1 |C1834673 diabetes mellitus, noninsulin-dependent, association with|C0011849 optic atrophy plus syndrome|C0574084 von willebrand disease, types 2a, 2b, 2m, and 2n|C0042974 chromosome 22q11.2 microduplication syndrome |C2675369 gastric cancer, familial diffuse, with or without cleft lip and/or palate|C0008924 pelizaeus-merzbacher disease|C0205711 spastic paraplegia 35, autosomal recessive|C3668943 klippel-feil syndrome 2|C4016650 candidiasis, familial, 1, autosomal dominant |C3816745 multiple sclerosis, susceptibility to, 1|C3816745 fetal akinesia deformation sequence|C1276035 breast cancer, protection against|C1545588 hiv type 1, susceptibility to|C0019693 multiple sclerosis, susceptibility to, 5|C0026769 myoclonic epilepsy, juvenile, susceptibility to, 1|C3816745 aspergillosis, susceptibility to|C0004030 factor vii deficiency|C0015503 hemosiderosis, systemic, due to aceruloplasminemia|C0878682 periodontitis, aggressive|C0001807 chromosome 4q32.1-q32.2 triplication syndrome |C3150857 deafness, autosomal dominant 8/12|C0011053 epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to|C0009952 nystagmus 7, congenital |C0028738 mycobacerium tuberculosis, susceptibility, x-linked |C0041296 thrombophilia due to protein c deficiency, autosomal recessive|C0398625 von willebrand disease, platelet-type|C0042974 cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3|C0025362 osteoarthritis susceptibility 4 |C1835815 ovarian cancer, susceptibility to |C1140680 methylmalonic aciduria and homocystinuria, cbld type|C0019880 congenital cataracts, facial dysmorphism, and neuropathy|C0442874 arrhythmogenic right ventricular dysplasia 2|C1832931 arrhythmogenic right ventricular dysplasia 1|C1862511 hypouricemia, renal|C0221333 phosphorylase kinase deficiency of liver and muscle, autosomal recessive|C0268147 arrhythmogenic right ventricular dysplasia 5|C1858379 arrhythmogenic right ventricular dysplasia 8|C0349788 lymphoma, somatic |C0024299 dystonia 25|C3554447 dystonia 24|C3554374 arrhythmogenic right ventricular dysplasia 9|C0349788 nonaka myopathy|C1853926 pseudohypoaldosteronism, type i|C0033805 lathosterolosis|C1846421 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to |C0149871 snowflake vitreoretinal degeneration|C1860405 diarrhea 4, malabsorptive, congenital|C1963165 ptosis, hereditary congenital 2 |C0005745 adrenocortical insufficiency |C0405580 atransferrinemia|C0521802 laryngoonychocutaneous syndrome|C1328355 short stature, optic nerve atrophy, and pelger-huet anomaly|C0030779 parkinson disease 16 |C2751012 megalencephaly-capillary malformation-polymicrogyria syndrome, somatic|C1865285 chrondrodysplasia, acromesomelic, with genital anomalies|C0744356 deafness, autosomal recessive 71 |C0011053 pheochromocytoma, modifier of|C0031511 speech-language disorder-1|C0750927 tooth agenesis, selective, x-linked 1|C4024202 xeroderma pigmentosum, type f/cockayne syndrome|C0009207 clove syndrome, somatic|C2752042 aphakia, congenital primary|C0003534 legg-calve-perthes disease|C0023234 caffey disease|C0020497 schizophrenia, susceptibility to|C0036341 anorexia nervosa, susceptibility to|C0003125 dopamine receptor d2, reduced brain density of |C1265608 osteoarthritis susceptibility 6 |C0409959 insensitivity to pain, congenital, with anhidrosis|C0003028 carpal tunnel syndrome, familial|C0007286 ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|C1384666 spastic paraplegia 72, autosomal dominant|C0037772 severe combined immunodeficiency due to ada deficiency|C0392607 legius syndrome|C1969623 keratosis linearis with ichthyosis congenita and sclerosing keratoderma|C0022579 severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive|C1514241 door syndrome|C0795934 polydactyly, postaxial, type a5 |C0152427 waardenburg syndrome, type 3|C3266898 hdl response to hormone replacement, augmented |C1704632 waardenburg syndrome, type 1|C3266898 trismus-pseudocamptodactyly syndrome|C0265226 amyloidosis, secondary, susceptibility to |C0027627 peroxisome biogenesis disorder 12a (zellweger)|C0282528 thrombophilia, susceptibility to, due to factor v leiden|C0584960 adermatoglyphia|C1852150 insulin resistance, severe, digenic|C0021655 liebenberg syndrome|C1861313 ritscher-schinzel syndrome|C0796137 dystonia 16|C2677567 glaucoma 1, open angle, 1o|C0429524 hemangioma, capillary infantile, somatic|C0018916 hypertelorism, preauricular sinus, punctal pits, and deafness |C0011053 spinocerebellar ataxia, autosomal recessive with axonal neuropathy|C0270921 mulibrey nanism|C0524582 myotonia congenita, dominant|C0027127 macroglobulinemia, waldenstrom, susceptibility to, 2 |C3833492 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay|C0557874 mycobacterial and salmonella infections, susceptibility to|C0036117 spondyloarthropathy, susceptibility to, 1|C3816745 dyserythropoietic anemia, congenital, type ii|C0678199 fetal hemoglobin quantitative trait locus 2 |C1840598 duane retraction syndrome 2|C0751083 malaria, cerebral, susceptibility to|C0024530 dyserythropoietic anemia, congenital, type iv|C0678199 polydactyly, postaxial, type a4 |C0152427 mental retardation, x-linked 53 |C0025362 parkinson disease 10 |C1847360 breast and colorectal cancer, susceptibility to |C1527249 malaria, protection against|C1545588 chromosome 1q43-q44 deletion syndrome |C2676727 macroglobulinemia, waldenstrom, susceptibility to, 1 |C3816745 atrioventricular septal defect, susceptibility to, 2|C3833492 retinoschisis|C0152439 skin/hair/eye pigmentation 4, fair/dark skin|C1849923 systemic lupus erythematosus, susceptitbility to, 11|C0024141 down syndrome |C0013080 erythrokeratodermia variabilis with erythema gyratum repens|C0263357 hepatic adenoma, somatic|C0206669 cardiomyopathy, hypertrophic, midventricular, digenic|C0020564 obesity, susceptibility to, bmiq8 |C2676933 polydactyly, postaxial, type a3 |C0152427 hypophosphatasia, infantile|C0020630 mental retardation, x-linked 52 |C0025362 testicular tumor, somatic|C0039590 prostate cancer, hereditary|C0376358 spinal muscular atrophy, lower extremity-predominant, ad|C0026847 parkinson disease 12 |C1845165 tibial hemimelia |C0265633 pancreatic agenesis and congenital heart defects|C0018798 keratosis palmoplantaris striata iii|C2931123 leigh syndrome due to mitochondrial cox4 deficiency|C0162429 emberger syndrome|C3279664 jensen syndrome|C1839564 cutis laxa, autosomal recessive, type iia|C0010495 dyserythropoietic anemia, congenital, type ib|C0678199 vacterl association, x-linked|C1735591 dyserythropoietic anemia, congenital, type ia|C0678199 cutis laxa, autosomal recessive, type iib|C0010495 spastic paraplegia 55, autosomal recessive|C0037772 orthostatic hypotensive disorder of streeten |C1840438 ehlers-danlos syndrome, autosomal dominant, hypermobility type|C0013720 fetal hemoglobin quantitative trait locus 4 |C1969842 glomerulopathy with fibronectin deposits 2|C3833492 hypochromic microcytic anemia |C0271901 immunodeficiency 17, cd3 gamma deficient|C3810107 hypoprothrombinemia|C0020640 maple syrup urine disease, type ia|C0024776 scapuloperoneal syndrome, myopathic type|C0039082 nemaline myopathy 1, autosomal dominant or recessive|C1836448 maple syrup urine disease, type ib|C0024776 elliptocytosis-3 |C1866810 immunodeficiency, primary, autosomal recessive, il21r-related|C0445223 retinal degeneration, late-onset, autosomal dominant|C0035304 exfoliation syndrome, susceptibility to|C0206368 propionicacidemia|C0268579 maple syrup urine disease, type ii|C0024776 leukemia, acute promyelocytic, pl2f/rara type |C0023418 macular dystrophy, retinal|C0339508 bleeding disorder, platelet-type, 11|C0005779 bleeding disorder, platelet-type, 15|C0005779 bor-duane hydrocephalus contiguous gene syndrome |C1838346 myopathy, actin, congenital, with excess of thin myofilaments|C0026848 hyperaldosteronism, familial, type ii |C0020428 fetal hemoglobin quantitative trait locus 3 |C1844568 encephalopathy, acute, infection-induced, 3, susceptibility to|C3838680 leukemia/lymphoma, t-cell |C0024299 piebaldism|C0080024 migraine, susceptibility to|C0149931 plasminogen deficiency, types i and ii |C0398621 hypertension, insulin resistance-related, susceptibility to|C0445223 bleeding disorder, platelet-type, 17|C0005779 heinz body anemia|C0272007 acrofacial dysostosis 1, nager type|C1332140 lethal congenital contracture syndrome 1|C1854664 premature ovarian failure 6|C2676742 laing distal myopathy|C0221054 premature ovarian failure 5|C1969060 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive|C0020620 hirschsprung disease, susceptibility to, 8 |C0019569 lethal congenital contracture syndrome 4|C3554046 premature ovarian failure 7|C2751825 lethal congenital contracture syndrome 5|C3809272 enlarged vestibular aqueduct|C1863752 ichthyosis, congenital, autosomal recessive 10|C3842590 riddle syndrome|C2677792 short stature|C0349588 premature ovarian failure 1|C3494522 autoinflammation, lipodystrophy, and dermatosis syndrome|C0039082 premature ovarian failure 4|C1845295 premature ovarian failure 3|C1837008 tumoral calcinosis, hyperphosphatemic, familial|C0085681 cerebral cavernous malformations-1|C1366911 albinism-deafness syndrome |C1845068 cerebral cavernous malformations-2|C1864041 colostrum secretion, variation in|C3149149 malouf syndrome|C0796031 stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome|C0796176 coronary artery disease, resistance to|C0010054 fuhrmann syndrome|C1856728 vohwinkel syndrome with ichthyosis|C0020757 aortic aneurysm, familial abdominal 2 |C0003486 spinocerebellar ataxia, x-linked 1 |C0087012 hirschsprung disease, susceptibility to, 7 |C0019569 n syndrome|C2936859 deafness, autosomal recessive 68 |C0011053 pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis|C0010674 hyperphosphatasia with mental retardation syndrome 1|C0039082 fabry disease, cardiac variant|C0002986 heterotaxy, visceral, 4, autosomal|C0266642 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked|C0021831 feingold syndrome|C0796068 exudative vitreoretinopathy 5|C2750079 schneckenbecken dysplasia|C0432194 enhanced s-cone syndrome|C1849394 branchiootic syndrome 2 |C1852718 capillary malformations, hereditary |C0340803 nephrolithiasis, uric acid, susceptibility to|C0022650 hypophosphatemic rickets|C1704375 capillary malformation-arteriovenous malformation|C1842180 exudative vitreoretinopathy 4|C1866176 leukocyte adhesion deficiency, type iii|C0272187 pancreatic agenesis|C4016686 cowchock syndrome|C0795910 hirschsprung disease, susceptibility to, 6 |C0019569 corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia|C0025990 brachydactyly, type a1, c|C0221357 galactosemia|C0268151 rubinstein-taybi syndrome|C0035934 emery-dreifuss muscular dystrophy 5, autosomal dominant|C3489792 hyperlipidemia, familial combined, susceptibility to|C0020473 emery-dreifuss muscular dystrophy 1, x-linked|C0410189 mitochondrial complex ii deficiency|C1855008 photoparoxysmal response 1 |C1868677 systemic lupus erythematosus, association with|C0024141 warburg micro syndrome 3|C3280203 orofacial cleft 10|C1866070 orofacial cleft 11|C2677434 breast cancer, poor survival after chemotherapy for |C0006142 greig cephalopolysyndactyly syndrome|C0265306 alcohol dependence, protection against|C1545588 dyssegmental dysplasia, silverman-handmaker type|C1857100 gallbladder disease 3 |C1835924 prader-willi-like syndrome|C0039082 leukemia, acute myeloid|C0023418 warburg micro syndrome 2|C3280214 warburg micro syndrome 1|C1838625 mental retardation, autosomal recessive 23 |C0025362 arrhythmogenic right ventricular dysplasia 6 |C1858378 spondylocostal dysostosis 4, autosomal recessive|C4017128 hypertension, susceptibility to|C1963138 anemia, hemolytic, rh-null, regulator type|C0002871 diabetes mellitus, insulin-dependent, x-linked |C0011849 hirschsprung disease, susceptibility to, 5 |C0019569 photoparoxysmal response 2 |C1835967 deafness, autosomal recessive 66 |C0011053 machado-joseph disease|C0024408 bardet-biedl syndrome 9|C1859567 bardet-biedl syndrome 8|C1859566 hypofibrinogenemia, gamma type |C0553681 ehlers-danlos syndrome, type vi|C0013720 c2 deficiency|C3150275 stroke, hemorrhagic|C0038454 leigh syndrome|C0023264 aids, resistance to|C0001175 myocardial infarction, protection against|C1545588 epilepsy, idiopathic generalized, suscpetibility to, 12|C0014544 dementia, vascular, susceptibility to |C1558950 leukemia, acute lymphoblastic, susceptibility to, 3|C3838680 gastric cancer, somatic|C0024623 bardet-biedl syndrome 7|C1859565 migraine with or without aura, susceptibility to |C0236018 pseudohypoaldosteronism, type iie|C0033805 bardet-biedl syndrome 6|C1858054 delayed sleep phase syndrome, susceptibility to|C0393770 pseudohypoaldosteronism, type iid|C0033805 bardet-biedl syndrome 5|C3892039 bardet-biedl syndrome 4|C2936864 bardet-biedl syndrome 3|C1859564 hemangioma, capillary infantile, susceptibility to|C0018916 bardet-biedl syndrome 2|C2936863 gallbladder disease 2 |C1835925 bardet-biedl syndrome 1|C2936862 deafness, autosomal recessive 65 |C3843765 mental retardation, x-linked syndromic, nascimento-type|C0039082 pseudohypoaldosteronism, type iic|C0033805 aortic aneurysm, familial abdominal 1 |C0003486 buschke-ollendorff syndrome|C0265514 pseudohypoaldosteronism, type iib|C0033805 meningioma|C1762616 retinitis pigmentosa 9|C1867300 erythrocyte lactate transporter defect|C1855577 retinitis pigmentosa 7|C1842475 coronary artery disease in familial hypercholesterolemia, protection against|C1545588 mitochondrial dna depletion syndrome 12 (cardiomyopathic type)|C0878544 craniosynostosis, nonspecific |C0010278 retinitis pigmentosa 3|C1845667 retinitis pigmentosa 2|C2681923 cone-rod dystrophy 8 |C1854180 retinitis pigmentosa 1|C0220701 ichthyosis, congenital, autosomal recessive 4a|C0020757 cirrhosis, cryptogenic|C1623038 diphenylhydantoin toxicity |C0149969 ectodermal dysplasia, hypohidrotic, with immune deficiency|C0021051 stroke, ischemic, susceptibility to|C0038454 chromosome 16p13.3 deletion syndrome |C3502510 microphthalmia, syndrome 1|C0039082 2-methylbutyrylglycinuria|C2198591 osteopoikilosis|C0029455 kala-azar, susceptibility to, 3 |C3838680 mental retardation, autosomal recessive 25 |C0025362 colorectal cancer, susceptibility to, 3|C3838680 colorectal cancer, susceptibility to, 1|C3816745 deafness, autosomal recessive 62 |C0011053 endplate acetylcholinesterase deficiency|C1864233 leukemia, acute myelogenous |C0023418 perlman syndrome|C0027708 retinitis pigmentosa 63 |C3281002 cirrhosis, noncryptogenic, susceptibility to|C1623038 sick sinus syndrome 1|C1963235 ectopia lentis, familial|C0013581 sick sinus syndrome 2|C1963235 trichothiodystrophy|C1955934 epilepsy, childhood absence|C1689985 leukemia, acute myelomonocytic |C0023418 spastic paraplegia 44, autosomal recessive|C4017172 porokeratosis 5, disseminated superficial actinic |C0162839 sick sinus syndrome 3|C1963235 spinocerebellar ataxia 18 |C1843884 deafness, x-linked 4|C0011053 epidermolysis bullosa, lethal acantholytic|C3151529 deafness, x-linked 1|C0011053 deafness, x-linked 2|C0011053 hypospadias 2, x-linked|C1691215 mental retardation, autosomal recessive 24 |C0025362 xeroderma pigmentosum, group g/cockayne syndrome|C0009207 deafness, x-linked 6|C0011053 haddad syndrome|C1859049 alopecia, androgenetic|C0002170 parietal foramina 2|C1865044 esophageal cancer|C0014859 parietal foramina 1|C1868599 pitt-hopkins syndrome|C1970431 leukemia, acute lymphoblastic|C0023418 schizophrenia, susceptibility to, 13 |C0036341 squamous cell carcinoma, head and neck, somatic|C1302853 epilepsy, familial mesial temporal lobe |C0014544 supranuclear palsy, progressive atypical|C0741302 lewy body dementia, susceptibility to|C0752347 parkinson disease 20, early-onset|C1833334 cognitive impairment with or without cerebellar ataxia|C0007758 developmental dysplasia of the hip 2 |C0334044 arrhythmogenic right ventricular dysplasia 12|C0349788 ifap syndrome with or without bresheck syndrome|C3502469 nevus, epidermal, somatic|C1456781 alcohol dependence|C0001973 spinal muscular atrophy, lower extremity-predominant, 2, ad|C0026847 graft-versus-host disease, protection against|C1545588 hyperphosphatasia with mental retardation syndrome 3|C0039082 hyperphosphatasia with mental retardation syndrome 2|C0039082 spinocerebellar ataxia, x-linked 5 |C0087012 mental retardation, autosomal recessive 27 |C0025362 acrodysostosis 1, with or without hormone resistance|C0520983 diabetes mellitus, type ii, susceptibility to|C0011849 pituitary adenoma, acth-secreting|C0032000 chromosome 15q24 deletion syndrome |C3150674 deafness, neurosensory, autosomal recessive 47 |C0011053 dyschromatosis universalis hereditaria 3|C3809394 schizophrenia, susceptibility to, 14 |C0036341 arthrogryposis, distal, type 5|C0003886 ullrich congenital muscular dystrophy|C0410179 optic atrophy 3 with cataract|C0086543 spondylocostal dysostosis 2, autosomal recessive|C0265343 bernard-soulier syndrome, type a1 (recessive)|C0005129 mental retardation, autosomal recessive|C0025362 renal cell carcinoma|C0007134 acromicric dysplasia|C0265287 abcd syndrome|C1838099 parkinsonism with spasticity, x-linked|C0026838 bombay phenotype |C1859408 familial cold autoinflammatory syndrome 2|C2673198 familial cold autoinflammatory syndrome 3|C3280914 autism susceptibility 14a |C0004352 hypertrophic osteoarthropathy, primary, autosomal recessive 1|C0178703 hypertrophic osteoarthropathy, primary, autosomal recessive 2|C0178703 muscle strength quantitative trait locus 1 |C2677532 osteoporosis, postmenopausal, susceptibility|C0029456 dentinogenesis imperfecta, shields type iii|C0011436 myasthenic syndrome, fast-channel congenital|C0015663 immunodeficiency due to defect in cd3-zeta|C0021051 chromosome 5p13 duplication syndrome |C2750805 ectodermal dysplasia 1, hypohidrotic, x-linked|C0020620 glanzmann thrombasthenia|C0040015 myopia 7 |C1836506 phenylketonuria|C0751434 hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy|C1833334 gaucher disease, type iiic|C0017205 bleeding disorder due to p2rx1 defect |C1458140 lipodystrophy, congenital generalized, type 4|C0023787 lipodystrophy, congenital generalized, type 2|C0023787 lipodystrophy, congenital generalized, type 3|C0023787 lipodystrophy, congenital generalized, type 1|C0023787 parkinson disease 6, early onset|C1833334 inflammatory bowel disease 28, early onset, autosomal recessive|C1833334 arrhythmogenic right ventricular dysplasia 10|C3842590 arrhythmogenic right ventricular dysplasia 11|C0349788 developmental dysplasia of the hip 1 |C0334044 beaulieu-boycott-innes syndrome|C3150939 leiomyoma, uterine, somatic|C0042133 neuromuscular disease, congenital, with uniform type 1 fiber|C0027868 cataract 11, syndromic|C0039082 lissencephaly 2 (norman-roberts type)|C0796089 interstitial nephritis, karyomegalic|C0333902 nephrolithiasis/osteoporosis, hypophosphatemic, 1|C3816745 pyloric stenosis, infantile hypertrophic 1 |C0020564 creutzfeldt-jakob disease, variant, resistance to|C0022336 nephrolithiasis/osteoporosis, hypophosphatemic, 2|C3833492 hypomagnesemia 4, renal|C0151723 pierson syndrome|C1836876 chromosome 15q13.3 microdeletion syndrome |C2677613 alveolar capillary dysplasia with misalignment of pulmonary veins|C1275957 alzheimer disease, late-onset|C1521724 masp2 deficiency|C3151085 neuropathy, hereditary sensory and autonomic, type vi|C0442874 emery-dreifuss muscular dystrophy 4, autosomal dominant|C2751807 beta-ureidopropionase deficiency|C1291512 ectodermal dysplasia/skin fragility syndrome|C1858302 spastic paraplegia 46, autosomal recessive|C0037772 lipoprotein lipase deficiency|C0023817 robinow syndrome, autosomal dominant|C0265205 short-rib thoracic dysplasia 11 with or without polydactyly|C0152427 hydrocephalus with congenital idiopathic intestinal pseudoobstruction|C2746068 haim-munk syndrome|C1855627 bladder cancer, somatic|C0005684 myopia 5 |C1837972 charcot-marie-tooth disease, dominant intermediate e|C0007959 charcot-marie-tooth disease, dominant intermediate f|C0007959 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12|C0015393 squamous cell carcinoma, head and neck|C1302853 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10|C0015393 charcot-marie-tooth disease, dominant intermediate b|C0007959 emphysema-cirrhosis, due to aat deficiency|C0221757 charcot-marie-tooth disease, dominant intermediate c|C0007959 renal-hepatic-pancreatic dysplasia 1|C3715199 charcot-marie-tooth disease, dominant intermediate d|C0007959 muscle glycogenosis|C0017919 myasthenic syndrome, congenital, with tubular aggregates 2|C0333768 hypoparathyroidism, autosomal dominant|C0020626 gout, prps-related|C0032027 lung cancer susceptibility |C3836906 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13|C0015393 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14|C0015393 small fiber neuropathy|C3276706 palmoplantar keratoderma, bothnian type|C0022596 barth syndrome|C0574083 macular dystrophy, retinal, 2|C3833492 renal-hepatic-pancreatic dysplasia 2|C3809434 craniolenticulosutural dysplasia|C1843042 hypokalemic periodic paralysis, type 2|C0238358 pfeiffer syndrome|C0220658 hypokalemic periodic paralysis, type 1|C0238358 small-cell cancer of lung |C0262584 tay-sachs disease|C0039373 microphthalmia, isolated 7|C0026010 chudley-mccullough syndrome|C1858695 microphthalmia, isolated 8|C0026010 photoparoxysmal response 3 |C1835966 cutis laxa, ad|C0010495 microphthalmia, isolated 5|C0026010 cataract 4, multiple types|C0086543 microphthalmia, isolated 6|C0026010 microphthalmia, isolated 3|C3838680 microphthalmia, isolated 4|C0026010 kaposi sarcoma, susceptibility to|C0036220 microphthalmia, isolated 2|C3833492 mitral valve prolapse, myxomatous 1 |C0026267 leukemia, juvenile myelomonocytic|C0023418 schizophrenia 12|C1837893 schizophrenia 15|C3151380 esophageal carcinoma, somatic 133239 |C0152018 mitral valve prolapse, myxomatous 2 |C0026267 esophageal cancer, alcohol-related, susceptibility to |C0524349 age-related maculopathy, susceptibility to|C0242383 charcot-marie-tooth disease, axonal, type 2l|C0007959 charcot-marie-tooth disease, axonal, type 2k|C0007959 charcot-marie-tooth disease, axonal, type 2n|C0007959 corneal dystrophy, fuchs endothelial|C0010036 charcot-marie-tooth disease, axonal, type 2m|C0007959 gitelman syndrome|C0268450 charcot-marie-tooth disease, axonal, type 2q|C0007959 wilson-turner syndrome|C0041408 chronic granulomatous disease due to deficiency of ncf-2|C0162429 hypohaptoglobinemia|C3279787 charcot-marie-tooth disease, axonal, type 2f|C0007959 chronic granulomatous disease due to deficiency of ncf-1|C0162429 hawkinsinuria|C2931042 renal tubular acidosis, distal, ad|C0001126 chromosome 10q23 deletion syndrome |C2677102 spastic paraplegia 45, autosomal recessive |C4016664 hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations|C2919945 camptodactyly-arthropathy-coxa vara-pericarditis syndrome|C1859690 mitochondrial pyruvate carrier deficiency|C3553607 neuroblastoma with hirschsprung disease|C0019569 mitochondrial dna depletion syndrome 13 (encephalomyopathic type)|C3554130 migraine, resistance to|C0149931 cystinosis, ocular nonnephropathic|C2931187 cone-rod dystrophy 11|C1835865 acat2 deficiency|C0342735 cone-rod dystrophy 10|C1846529 klippel-feil syndrome 1, autosomal dominant|C0022738 megaloblastic anemia-1, finnish type|C1306856 metachromatic leukodystrophy due to sap-b deficiency|C0162429 cone-rod dystrophy 13|C2750720 cone-rod dystrophy 12|C2675210 autoinflammation, antibody deficiency, and immune dysregulation syndrome|C0039082 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2|C0236642 cone-rod dystrophy 18|C3809299 mental retardation, x-linked, snyder-robinson type|C0025362 cone-rod dystrophy 15|C3150912 cone-rod dystrophy 14|C1865869 leanness, inherited |C0039870 pseudohypoparathyroidism, type ib|C0033806 cone-rod dystrophy 16|C3281045 spastic paraplegia 50, autosomal recessive|C3843766 rapadilino syndrome|C1849453 meconium ileus|C2939175 dyggve-melchior-clausen disease|C0265286 miller syndrome|C0812435 obesity, autosomal dominant|C0028754 bartter syndrome, type 4b, digenic|C0004775 autoimmune disease, susceptibility to, 6|C0004364 renal tubular acidosis, distal, ar|C2986463 myopia 9 |C1836504 charcot-marie-tooth disease, axonal, type 20|C3842589 thrombocytopenia, x-linked, with or without dyserythropoietic anemia|C0678199 leukemia, myeloid/lymphoid or mixed-lineage |C3160715 bjornstad syndrome|C0266006 fg syndrome 2|C1845902 periventricular nodular heterotopia 5 |C2752071 hypotrichosis, localized, autosomal recessive|C0020678 autoimmune disease, susceptibility to, 1|C3816745 mental retardation, x-linked syndromic, christianson type|C0039082 hypocalcemia, autosomal dominant 2|C0020598 hair morphology 1, hair thickness|C2675460 dejerine-sottas disease|C0011195 fg syndrome 4|C1845546 tyrosinemia, type ib |C1879362 alzheimer disease, susceptibility to|C1521724 carney complex, type ii |C0406810 rh-null disease, amorph type |C1849387 ichthyosis vulgaris|C0079584 larsen syndrome|C0175778 metaphyseal anadysplasia 1|C2748495 metaphyseal anadysplasia 2|C2751322 oculopharyngeal muscular dystrophy|C0270952 hypotrichosis simplex of scalp 1|C1854310 mitral valve prolapse, myxomatous 3 |C0026267 adenomas, salivary gland pleomorphic|C0001430 ceroid lipofuscinosis, neuronal, 1|C3816745 ceroid lipofuscinosis, neuronal, 3|C3838680 ceroid lipofuscinosis, neuronal, 2|C3833492 ceroid lipofuscinosis, neuronal, 5|C0027877 scid, autosomal recessive, t-negative/b-positive type|C1514241 myopia 8 |C1836505 ceroid lipofuscinosis, neuronal, 7|C0027877 ceroid lipofuscinosis, neuronal, 6|C0027877 epilepsy, progressive myoclonic 1a (unverricht and lundborg)|C0014544 ceroid lipofuscinosis, neuronal, 8|C0027877 heterotaxy, visceral, 5|C0266642 wilms tumor, somatic|C0027708 prostate adenocarcinoma |C0007112 mental retardation, x-linked 58|C0025362 mesomelic dysplasia, kantaputra type |C0410536 male germ cell tumor, somatic, 273300, |C1336708 d-bifunctional protein deficiency|C0033626 sle susceptibility |C0024141 amelogenesis imperfecta-3, hypoplastic type |C0002452 sbbyss syndrome|C0039082 c1q deficiency|C3150902 phobia, specific |C0349231 osteoarthritis susceptibility 1|C3887876 osteoarthritis susceptibility 2|C3887526 dermoids of cornea |C0011649 osteoarthritis susceptibility 3|C2675609 waardenburg syndrome, type 2b |C3266898 polycystic ovary syndrome 1 |C0032460 ovalocytosis |C0013902 hepatocellular carcinoma |C2239176 mental retardation, x-linked 29 and others|C1955473 hypertrichosis terminalis, generalized, with or without gingival hyperplasia |C0017566 leukocyte adhesion deficiency|C0272187 mental retardation, x-linked 46|C0025362 parathyroid adenoma, somatic |C0262587 migraine, familial hemiplegic |C0149931 aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies|C0000768 mental retardation, x-linked 45|C0025362 bardet-biedl syndrome 15|C3150127 bardet-biedl syndrome 17|C3714980 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type|C0020620 mental retardation, x-linked 41|C0025362 sandhoff disease, infantile, juvenile, and adult forms|C0036161 bardet-biedl syndrome 11|C1859569 retinal cone dystrophy 3b|C1835897 bardet-biedl syndrome 12|C1859570 bardet-biedl syndrome 13|C2673873 waardenburg syndrome, type 2c |C3266898 bardet-biedl syndrome 14|C2673874 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract|C0086543 segawa syndrome, recessive|C0039082 anemia, sideroblastic, pyridoxine-refractory, autosomal recessive|C0002871 bardet-biedl syndrome 10|C1859568 spondyloepiphyseal dysplasia, kimberley type|C0038015 polymicrogyria with seizures|C0036572 stroke, susceptibility to|C0038454 caudal regression syndrome|C0300948 refsum disease|C0034960 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia|C1882062 hyperekplexia, hereditary 1, autosomal dominant or recessive|C0234166 ovarian carcinoma, somatic|C0029925 spastic paraplegia 27, autosomal recessive |C0037772 hyperuricemic nephropathy, familial juvenile|C0235419 epiphyseal dysplasia, multiple 1|C0392476 welander distal myopathy |C0221054 porokeratosis, disseminated superficial actinic, 1|C0162839 c3 deficiency|C1332655 chondrosarcoma, extraskeletal myxoid|C0008479 waardenburg syndrome, type 2a|C3266898 pituitary adenoma, prolactin-secreting|C0032000 simpson-golabi-behmel syndrome, type 2|C0796154 van buchem disease|C0432272 metastasis efficiency, modification of |C0027627 simpson-golabi-behmel syndrome, type 1|C0796154 waardenburg syndrome, type 2d|C3266898 neuropathy, hereditary sensory and autonomic, type iib|C0442874 cardiomyopathy, dilated 1c|C0700124 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome|C0039082 megakaryoblastic leukemia, acute |C0023462 asthma susceptibility 5|C4016888 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp |C0154676 doyne honeycomb degeneration of retina|C0011164 metachondromatosis|C0410530 ventricular tachycardia, catecholaminergic polymorphic|C0042514 gastric cancer risk after h. pylori infection|C0850666 achondrogenesis, type ii or hypochondrogenesis|C0542428 mitochondrial dna depletion syndrome 1 (mngie type)|C0872218 monocyte and dendritic cell deficiency, recessive|C0162429 scalp-ear-nipple syndrome|C1867020 cataract with late-onset corneal dystrophy|C0010036 mental retardation, x-linked 2 |C0025362 autism, susceptibility to, 10 |C0004352 hypercholesterolemia, familial, modification of|C1522133 hyperproglucagonemia |C1840388 encephalopahty, lethal, due to defective mitochondrial peroxisomal fission|C3151529 catel-manzke syndrome |C1844887 mental retardation, x-linked 19|C0025362 menopause, natural, age at, qtl2 |C0567312 scapuloperoneal myopathy, x-linked dominant|C1847879 mitochondrial recessive ataxia syndrome (includes sando and scae)|C1843852 sarcoma, synovial |C1299262 leukemia, chronic lymphocytic, susceptibility to, 3 |C3838680 sitosterolemia|C0342907 pigmented nodular adrenocortical disease, primary, 1|C3816745 prostate cancer, susceptibility to|C0376358 miyoshi muscular dystrophy 1|C1850808 autoimmune lymphoproliferative syndrome|C1328840 jackson-weiss syndrome|C0795998 miyoshi muscular dystrophy 3|C2750076 obesity, severe, and type ii diabetes|C0011860 friedreich ataxia|C0016719 schizophrenia, susceptibility to, 4|C0036341 spondyloperipheral dysplasia|C0796173 bohring-opitz syndrome|C0796232 fetal hydantoin syndrome |C0265372 hemochromatosis, type 2a|C0018995 leprosy, protection against|C1545588 lig4 syndrome|C1847827 hemochromatosis, type 2b|C0018995 lymphoma/leukemia, b-cell, variant |C0023418 deafness, nonsyndromic, modifier 1 |C2677304 albinism, oculocutaneous, type iii|C0001916 specific language impairment qtl|C0454651 menopause, natural, age at, qtl1 |C0567312 pelger-huet anomaly|C0030779 dystonia 21 |C3281236 craniometaphyseal dysplasia|C0265292 melorheostosis with osteopoikilosis|C0029455 oi type ii|C0029434 hartnup disorder|C0018609 myxoma, intracardiac|C0027149 oi type iv|C0029434 convulsions, familial infantile, with paroxysmal choreoathetosis|C1851936 microcephaly 10, primary, autosomal recessive|C3842590 phenylthiocarbamide tasting|C1868398 mirror movements 1|C1834870 systemic lupus erythematosus, susceptibility to|C0024141 mirror movements 2|C3281089 tyrosinemia, type iii|C1879362 menopause, natural, age at, qtl4 |C0567312 myelodysplasia and leukemia syndrome with monosomy 7 |C1513483 basal cell carcinoma 7|C0007117 colorblindness, tritan|C0858618 glutaric aciduria iii|C0342873 cranioosteoarthropathy|C2678439 iris hypoplasia and glaucoma|C1962986 adrenomyeloneuropathy, adult|C0162309 potocki-lupski syndrome |C1970482 vasculopathy, retinal, with cerebral leukodystrophy|C0023520 factor xiiia deficiency|C0162429 obesity with impaired prohormone processing|C0028754 macular dystrophy, autosomal dominant, chromosome 6-linked|C0339508 hyperprolinemia, type ii|C0268528 breast cancer, susceptibility to|C0006142 ichthyosis, cyclic, with epidermolytic hyperkeratosis|C0079153 cerebellar ataxia, nonprogressive, with mental retardation|C0025362 galactosialidosis|C0268233 46xx sex reversal 1|C4022995 menopause, natural, age at, qtl3 |C0567312 dystonia 23 |C3538999 pigmented nodular adrenocortical disease, primary, 2|C3833492 pigmented nodular adrenocortical disease, primary, 3|C3838680 mycobacterium tuberculosis infection, protection against|C1545588 symphalangism, proximal|C0039075 van maldergem syndrome 1|C1832390 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)|C1843807 thrombocytopenia, neonatal alloimmune, bak antigen related |C0445223 van maldergem syndrome 2|C3809875 neutropenia, cyclic|C0027947 combined d-2- and l-2-hydroxyglutaric aciduria|C2746066 cornelia de lange syndrome 3|C1853099 heinz body anemias, beta-|C0700299 cornelia de lange syndrome 2|C1802395 night blindness, congenital stationary (complete), 1d, autosomal recessive|C3839460 cornelia de lange syndrome 1|C0270972 cornelia de lange syndrome 5|C3550903 leukemia, t-cell acute lymphoblastic |C0023418 bruck syndrome 2|C1836602 cornelia de lange syndrome 4|C3553517 paroxysmal nocturnal hemoglobinuria, somatic|C0024790 cholestasis, intrahepatic, of pregnancy, 3|C3838680 myotubular myopathy, x-linked|C0175709 insensitivity to pain, channelopathy-associated|C1720983 patella aplasia or hypoplasia |C0243069 nevus sebaceous, somatic|C3854181 hypermethioninemia due to adenosine kinase deficiency|C0162429 cone-rod dystrophy 3|C1858806 ornithine transcarbamylase deficiency|C0268542 parkinson disease 5, susceptibility to|C3501657 spastic paraplegia 2, x-linked|C0751604 thrombocytopenia, x-linked, intermittent|C0040034 alpha-2-macroglobulin deficiency|C3279661 mental retardation, autosomal recessive 29 |C3843708 cholestasis, intrahepatic, of pregnancy, 1|C3816745 chilblain lupus|C0024145 metachromatic leukodystrophy|C0023522 deafness, autosomal recessive 9|C0011053 diabetes mellitus, insulin-dependent-1 |C0011849 melanoma, cutaneous malignant, 3|C0025202 melanoma, cutaneous malignant, 2|C0025202 neuroblastoma, susceptibility to, 4 |C0027819 osteogenesis imperfecta, type i|C0029434 persistent mullerian duct syndrome, type ii|C1849930 deafness, autosomal recessive 3|C0011053 osteogenesis imperfecta, type v|C0029434 septooptic dysplasia|C0338503 orofaciodigital syndrome iv|C0406727 deafness, autosomal recessive 2|C0011053 polydactyly, preaxial, type iv|C0152427 deafness, autosomal recessive 7|C0011053 glaucoma, primary open angle, juvenile-onset|C0429524 macrothrombocytopenia, autosomal dominant, tubb1-related|C0445223 deafness, autosomal recessive 6|C0011053 megalencephalic leukoencephalopathy with subcortical cysts|C0010709 nanophthalmos-1 |C1838502 peripheral neuropathy, myopathy, hoarseness, and hearing loss|C0018772 anterior segment anomalies with or without cataract|C0086543 myoclonic epilepsy, infantile, familial|C0014550 porphyria variegata|C0162532 cd8 deficiency, familial|C0162429 osteogenesis imperfecta, type x|C0029434 melanoma, cutaneous malignant, 9|C0025202 pelviureteric junction obstruction |C0521619 venoocclusive disease after bone marrow transplantation |C0948441 melanoma, cutaneous malignant, 5|C0025202 glycoprotein ia deficiency|C3280114 beryllium disease, chronic, susceptibility to |C0005138 mephenytoin poor metabolizer|C3845231 melanoma, cutaneous malignant, 6|C0025202 mental retardation, autosomal recessive 28 |C0025362 blepharospasm, primary benign|C0005747 paraganglioma and gastric stromal sarcoma|C1370723 acheiropody|C0265559 neuroblastoma, susceptibility to, 5 |C0027819 adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency|C0268292 laron dwarfism|C0271568 agnathia-otocephaly complex|C0265242 thrombophilia due to elevated hrg|C0398623 gm1-gangliosidosis, type ii|C0085131 polymicrogyria with optic nerve hypoplasia|C0338502 leukemia, chronic lymphocytic, susceptibility to, 1 |C3816745 acute insulin response |C1866503 orofacial cleft 9 |C1835894 pulmonary disease, chronic obstructive, severe early-onset |C1833334 cervical carcinoma |C0302592 tetramelic mirror-image polydactyly |C1851100 epileptic encephalopathy, early infantile, 9|C0543888 nemaline myopathy 8, autosomal recessive|C3809209 plasminogen activator inhibitor-1 deficiency|C2750067 chromosome xp21 deletion syndrome |C0795887 epileptic encephalopathy, early infantile, 5|C0543888 alzheimer disease, late-onset, susceptibility to|C1521724 c1r/c1s deficiency, combined|C3150274 occipital horn syndrome|C0268353 epileptic encephalopathy, early infantile, 7|C0543888 cerebral amyloid angiopathy, prnp-related|C0445223 epileptic encephalopathy, early infantile, 8|C0543888 methylmalonic aciduria, cbld type, variant 2|C1855119 epileptic encephalopathy, early infantile, 1|C0543888 epileptic encephalopathy, early infantile, 2|C0543888 sebaceous tumors, somatic |C0036503 epileptic encephalopathy, early infantile, 3|C0543888 epileptic encephalopathy, early infantile, 4|C0543888 alzheimer disease-11 |C1853360 glaucoma 3, primary infantile, b |C1962986 glycine encephalopathy|C0751748 thrombophilia due to protein s deficiency, autosomal recessive|C0242666 dysfibrinogenemia, alpha type, causing recurrent thrombosis |C3550150 hypogonadotropic hypogonadism 2 with or without anosmia|C0003126 neuroblastoma, susceptibility to, 6 |C0027819 thyroid hormone resistance, autosomal recessive|C2940786 cone-rod dystrophy 9|C1423873 macular degeneration, age-related, reduced risk of|C0445223 leukoencephalopathy, cystic, without megalencephaly|C2720434 chromosome 16p11.2 duplication syndrome |C3553407 cone-rod dystrophy 7|C1863634 cone-rod dystrophy 5|C1832976 leukemia, chronic lymphocytic, susceptibility to, 2 |C3833492 thromboembolism, susceptibility to|C0040038 nystagmus 4, congenital |C0028738 spherocytosis, type 3|C0553720 spherocytosis, type 4|C0553720 aland island eye disease|C0268505 spherocytosis, type 1|C0553720 nemaline myopathy 7, autosomal recessive|C1853154 spastic paraplegia 52, autosomal recessive|C0037772 coumarin resistance|C0750384 epidermolysis bullosa, junctional, non-herlitz type|C0014527 phosphoglycerate dehydrogenase deficiency|C1866174 calcification of joints and arteries|C2242558 epilepsy, myoclonic, adult familial|C0014544 alzheimer disease-14 |C1970144 aneurysmal bone cysts |C0152244 tylosis with esophageal cancer|C0014859 rieger syndrome, type 2 |C0265341 chondrodysplasia, grebe type|C0343284 popliteal pterygium syndrome 2, lethal type|C3151529 thyrotoxic periodic paralysis, susceptibility to, 2|C3833492 ehlers-danlos syndrome, type iv|C0013720 epidermolysis bullosa simplex, recessive 1|C0079298 ehlers-danlos syndrome, type ii|C0013720 thyrotoxic periodic paralysis, susceptibility to, 1|C3816745 waardenburg syndrome, type 4a|C3266898 pyruvate dehydrogenase e1-beta deficiency|C3279841 waardenburg syndrome, type 4b|C3266898 waardenburg syndrome, type 4c|C3266898 bent bone dysplasia syndrome|C3281247 preauricular tag, isolated, autosomal dominant|C1860816 alzheimer disease-13 |C1970147 progressive external ophthalmoplegia, autosomal dominant, 3|C0162674 xeroderma pigmentosum, variant type|C0043346 nephronophthisis 4|C1847013 nephronophthisis 3|C1858392 46xy sex reversal 8, modifier of|C4022995 nephronophthisis 9|C3151188 nephronophthisis 7|C1969092 pseudoxanthoma elasticum, modifier of severity of|C0473583 goiter, multinodular 1, with or without sertoli-leydig cell tumors|C0206723 arthropathy, progressive pseudorheumatoid, of childhood|C0022408 birk-barel mental retardation dysmorphism syndrome|C2676770 albinism, oculocutaneous, type v |C0001916 glutathioninuria |C0268524 spherocytosis, type 2 |C0553720 adult syndrome|C1863204 h. pylori infection, susceptibility to|C0850666 microcephaly 5, primary, autosomal recessive|C0025958 epidermolysis bullosa, nonspecific, autosomal recessive|C0014527 porokeratosis 4, disseminated superficial actinic |C0162839 hydrocephalus due to aqueductal stenosis|C2936786 diarrhea 6|C3553270 adenomas, multiple colorectal|C0001430 obesity, severe, susceptibility to, bmiq9|C2677162 citrullinemia|C0175683 rhabdomyosarcoma, alveolar|C0035412 cataract 12, multiple types|C0086543 colorblindness, protan|C0858618 alzheimer disease-15 |C1970143 hirschsprung disease, susceptibility to, 9 |C0019569 ulna and fibula, absence of, with severe limb deficiency|C0311276 albinism, oculocutaneous, type vi|C0001916 dyskeratosis congenita, x-linked|C0265965 skin/hair/eye pigmentation 3, light/dark/freckling skin|C0016689 severe combined immunodeficiency, athabascan type|C0085110 glioma, susceptibility to, somatic|C0017638 mucolipidosis ii alpha/beta|C0020725 myopathy, reducing body, x-linked, childhood-onset|C1837352 hypotrichosis, congenital, with juvenile macular dystrophy|C1855465 microcephaly 2, primary, autosomal recessive, with or without cortical malformations|C2748861 emery-dreifuss muscular dystrophy 7, ad|C0410189 neuropathy, hereditary sensory and autonomic, type ia|C0442874 breast cancer, type 3 |C0006142 microphthalmia with coloboma 6, digenic|C0009363 obsessive-compulsive disorder, protection against|C1545588 neuropathy, hereditary sensory and autonomic, type ic|C0442874 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation|C0020517 neuropathy, hereditary sensory and autonomic, type ii|C0442874 myelodysplastic syndrome, susceptibility to|C3463824 orofacial cleft 4 |C1842143 leigh syndrome, due to cox deficiency|C0268237 deafness, autosomal recessive 55 |C0011053 charcot-marie-tooth disease, axonal, with vocal cord paresis|C0751576 goiter, familial, due to ttf-1 defect |C0018021 cataract 17, multiple types|C0086543 coenzyme q10 deficiency, primary, 4|C1843920 coenzyme q10 deficiency, primary, 3|C3838680 arthrogryposis multiplex congenita, distal, type 2b|C0003886 coenzyme q10 deficiency, primary, 2|C3833492 coenzyme q10 deficiency, primary, 1|C3816745 cataract 13 with adult i phenotype|C1292167 keratoconus 1|C1835677 bile acid synthesis defect, congenital, 4|C2827432 ventricular fibrillation, paroxysmal familial, 2|C0042510 weill-marchesani syndrome 1, recessive|C1869114 dihydropyrimidinuria|C3495551 deafness, congenital heart defects, and posterior embryotoxon |C0546967 dandy-walker syndrome |C0010964 corneal dystrophy, lisch epithelial |C0010036 hyperthyroidism, nonautoimmune|C0020550 pityriasis rubra pilaris|C0032027 bile acid synthesis defect, congenital, 3|C3838680 chromosome 15q26-qter deletion syndrome |C2675463 bile acid synthesis defect, congenital, 2|C3833492 bile acid synthesis defect, congenital, 1|C3816745 ichthyosis with hypotrichosis|C0020678 deafness, congenital with inner ear agenesis, microtia, and microdontia|C0240340 charcot-marie-tooth disease, recessive intermediate c|C0007959 kbg syndrome|C0220687 spermatogenic failure 4|C0232981 stickler sydrome, type i, nonsyndromic ocular|C2677304 spermatogenic failure 3|C1847540 short-rib thoracic dysplasia 10 with or without polydactyly|C0152427 amyotrophic lateral sclerosis 9|C2678468 spermatogenic failure 9|C3151407 amyotrophic lateral sclerosis, susceptibility to, 13|C0002736 lymphedema-distichiasis syndrome with renal disease and diabetes mellitus|C0011849 spermatogenic failure 6|C0403825 mental retardation, autosomal recessive, 9/26 |C0025362 spermatogenic failure 5|C0403812 spermatogenic failure 8|C3151406 spermatogenic failure 7|C2751811 amyotrophic lateral sclerosis 1|C1862939 deafness, autosomal recessive 15|C0011053 kenny-caffey syndrome, type 2|C0265291 carnitine acetyltransferase deficiency |C1443228 hprt-related gout|C0268117 cataract 20, multiple types|C3842589 deafness, autosomal recessive 16|C0011053 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia|C0338451 amyotrophic lateral sclerosis 8|C1837728 deafness, autosomal recessive 12|C0011053 hepatoblastoma, somatic|C0206624 hyper-ige recurrent infection syndrome, autosomal recessive|C0239998 aneurysm, intracranial berry, 6 |C0002940 spastic ataxia 2, autosomal recessive|C1849156 maculopathy, impg2-related|C0445223 mental retardation, x-linked 21/34|C0025362 hypogonadotropic hypogonadism 3 with or without anosmia|C0003126 malignant fibrous histiocytoma |C0334463 desbuquois dysplasia|C0432242 myotonia levior, recessive |C0270959 schizophrenia, neurophysiologic defect in |C0036341 oculoauricular syndrome|C2677500 breast cancer, somatic|C0006142 herpes simplex encephalitis, susceptibility to, 1|C3816745 herpes simplex encephalitis, susceptibility to, 3|C3838680 megalocornea 1, x-linked 309300 |C0344530 spastic paraplegia 29, autosomal dominant |C3843708 myasthenic syndrome, acetazolamide-responsive|C0549225 cataract 24, anterior polar |C1832609 craniodiaphyseal dysplasia, autosomal dominant|C0410539 charcot-marie-tooth disease, axonal, type 2g |C0007959 glaucoma 1, open angle, m |C0429524 hyperglycinuria|C0543541 salla disease|C1096903 combined hyperlipidemia, familial|C2712907 carney complex, type 1|C0406810 epidermylysis bullosa simplex-mcr|C4049612 osteoporosis-pseudoglioma syndrome|C0432252 troyer syndrome|C0393559 ventricular tachycardia, catecholaminergic polymorphic, 4|C0042514 cryptorchidism|C0010417 venous thrombosis, susceptibility to |C0042487 ventricular tachycardia, catecholaminergic polymorphic, 2|C0042514 ventricular tachycardia, catecholaminergic polymorphic, 1|C0042514 moebius syndrome |C0221060 coronary artery disease, autosomal dominant, 2|C0010054 coronary artery disease, autosomal dominant, 1|C0010054 medullary cystic kidney disease 2|C1859040 blood group, p1pk system, p phenotype|C0599990 neurofibromatosis, familial spinal|C0162678 cone dystrophy 4|C2751308 thrombophilia, dysplasminogenemic |C0398623 microtia with or without hearing impairment (ad)|C1384666 inflammatory bowel disease 11 |C2674051 medullary cystic kidney disease 1|C1868139 parkinson disease, late-onset, susceptibility to|C0030567 mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)|C1855119 ischemic stroke, susceptibility to|C0948008 seckel syndrome 1|C0265202 basal cell nevus syndrome|C0004779 nephrotic syndrome, type 2|C0027726 seckel syndrome 2|C1847572 nephrotic syndrome, type 1|C0027726 carbamoylphosphate synthetase i deficiency|C0751753 seckel syndrome 4|C3888212 glaucoma 1, open angle, p |C0429524 seckel syndrome 5|C3151187 seckel syndrome 6|C3553582 ceroid lipofuscinosis, neuronal, 4, parry type|C0027877 seckel syndrome 7|C3553870 myopathy congenital, with fiber-type disproportion|C0546264 chromosome 6q25-q25 deletion syndrome |C0039082 ataxia-oculomotor apraxia 3|C3554690 riboflavin deficiency|C0035528 mental retardation, x-linked syndromic 10|C3842590 panhypopituitarism, x-linked|C0242343 hip dysplasia, beukes type |C0019555 nephrotic syndrome, type 8|C0027726 nephrotic syndrome, type 7|C0027726 nephrotic syndrome, type 9|C0027726 mental retardation, x-linked syndromic 16|C0039082 nephrotic syndrome, type 4|C0027726 deafness, autosomal recessive 51 |C0011053 nephrotic syndrome, type 3|C0027726 gm1-gangliosidosis, type iii|C0085131 nephrotic syndrome, type 6|C0027726 congenital disorder of glycosylation, type ip|C0242354 congenital disorder of glycosylation, type io|C0242354 congenital disorder of glycosylation, type in|C0242354 congenital disorder of glycosylation, type im|C0242354 congenital disorder of glycosylation, type il|C0242354 rheumatoid arthritis, systemic juvenile|C0003873 congenital disorder of glycosylation, type ik|C0242354 congenital disorder of glycosylation, type ij|C0242354 hypothyroidism, central, and testicular enlargement|C1739368 congenital disorder of glycosylation, type ii|C0242354 congenital disorder of glycosylation, type ih|C0242354 paragangliomas 3|C1854336 congenital disorder of glycosylation, type ig|C0242354 duchenne muscular dystrophy|C0013264 paragangliomas 2|C1866552 congenital disorder of glycosylation, type if|C0242354 coronary heart disease, susceptibility to, 5|C0010068 congenital disorder of glycosylation, type ie|C0242354 coronary heart disease, susceptibility to, 6|C0010068 congenital disorder of glycosylation, type id|C0242354 coronary heart disease, susceptibility to, 7|C0010068 migraine, familial hemiplegic, 1|C0149931 congenital disorder of glycosylation, type ic|C0242354 congenital disorder of glycosylation, type ib|C0242354 migraine, familial hemiplegic, 3|C0149931 paragangliomas 5|C3279992 spastic paraplegia 33, autosomal dominant|C0037772 congenital disorder of glycosylation, type ia|C0242354 migraine, familial hemiplegic, 2|C0149931 paragangliomas 4|C1861848 cataract 5, multiple types|C0086543 myopia 21, autosomal dominant|C0027092 epidermodysplasia verruciformis|C0014522 leukoencephalopathy with metaphyseal chondrodysplasia |C0265290 congenital disorder of glycosylation, type ix|C0242354 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14|C0025362 cone-rod dystrophy|C0035334 congenital disorder of glycosylation, type iw|C0242354 congenital disorder of glycosylation, type iv|C0242354 congenital disorder of glycosylation, type iu|C0242354 dystonia-parkinsonism, x-linked|C0242422 congenital disorder of glycosylation, type it|C0242354 congenital disorder of glycosylation, type is|C0242354 congenital disorder of glycosylation, type ir|C0242354 renal cysts and diabetes syndrome|C0039082 congenital disorder of glycosylation, type iq|C0242354 macular degeneration, age-related, 7|C0445223 hypotrichosis-lymphedema-telangiectasia syndrome|C1843004 macular degeneration, age-related, 8|C0445223 macular degeneration, age-related, 9|C0445223 cinca syndrome|C0409818 macular degeneration, age-related, 3|C3838680 macular degeneration, age-related, 4|C0445223 abetalipoproteinemia|C1963709 macular degeneration, age-related, 6|C0445223 retinitis pigmentosa, concentric|C0035334 macular degeneration, age-related, 1|C3816745 macular degeneration, age-related, 2|C3833492 tyrosinemia, type ii|C1879362 acyl-coa dehydrogenase, medium chain, deficiency of|C0162429 niemann-pick disease, type c1|C0456879 niemann-pick disease, type c2|C3810846 immunodeficiency due to defect in mapbp-interacting protein|C0021051 mast syndrome|C1855346 peroxisome biogenesis disorder 13a (zellweger)|C0282528 polydactyly, postaxial, type a6|C0152427 n-terminal acetyltransferase deficiency|C3275447 inflammatory bowel disease 12 |C2677105 bethlem myopathy|C1834674 hypertrichosis universalis congenita, ambras type |C0235864 renal tubular acidosis with deafness|C0011053 deafness, autosomal recessive 91|C0011053 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital|C0014527 deafness, autosomal recessive 93|C0011053 nonarteritic anterior ischemic optic neuropathy, susceptibility to|C1852242 mitochondrial complex iii deficiency, nuclear type 2|C1852372 currarino syndrome|C1531773 mitochondrial complex iii deficiency, nuclear type 1|C1852372 nephronophthisis 2, infantile|C1865872 chilblain lupus 2|C3280721 lung cancer, susceptibility to|C1306460 rhabdoid tumors, somatic|C0206743 inflammatory bowel disease 15 |C2677094 microcephaly 6, primary, autosomal recessive|C0025958 emery-dreifuss muscular dystrophy 6, x-linked|C2749106 lymphoma, diffuse large cell |C0024299 mental retardation, x-linked syndromic 7 |C0039082 odontohypophosphatasia|C1840322 leprosy, susceptibility to, 5|C0023343 leprosy, susceptibility to, 4|C0023343 deafness, autosomal recessive 88|C0011053 deafness, autosomal recessive 89|C0011053 myopathy with lactic acidosis, hereditary|C0001125 3-methylglutaconic aciduria, type v|C3696376 fructose intolerance|C0016751 epidermolysis bullosa simplex, dowling-meara type|C0079298 lung cancer, somatic|C1306460 ovarian cancer, somatic, |C1140680 porencephaly 2|C3280970 3-methylglutaconic aciduria, type i|C3696376 porencephaly 1|C1867983 mitochondrial complex iii deficiency, nuclear type 4|C1852372 mitochondrial complex iii deficiency, nuclear type 3|C1852372 mitochondrial complex iii deficiency, nuclear type 6|C1852372 mitochondrial complex iii deficiency, nuclear type 5|C1852372 hypertension, salt-resistant |C1963138 diabetes mellitus, insulin-dependent, 21 |C0011849 bloom syndrome|C0005859 lymphoproliferative syndrome 2|C3554540 dursun syndrome|C2751630 cerebral palsy, ataxic, autosomal recessive |C0234366 lymphoproliferative syndrome 1|C3552634 cataract 25 |C1854021 schimke immunoosseous dysplasia|C0877024 deafness, autosomal recessive 98|C0011053 cardiomyopathy, familial hypertrophic, 16|C0020564 cardiomyopathy, familial hypertrophic, 14|C0020564 multiple endocrine neoplasia iia|C0027662 cardiomyopathy, familial hypertrophic, 15|C0020564 deafness, autosomal recessive 74|C0011053 multiple endocrine neoplasia iib|C0027662 cardiomyopathy, familial hypertrophic, 12|C0020564 peroxisome biogenesis disorder 8a, (zellweger)|C0282528 cardiomyopathy, familial hypertrophic, 13|C0020564 ovarian cancer, somatic|C1140680 cardiomyopathy, familial hypertrophic, 10|C3842590 long qt syndrome-11|C2678483 cardiomyopathy, familial hypertrophic, 11|C0020564 deafness, autosomal recessive 70|C3842584 dermatitis, atopic, susceptibility to, 2|C3833492 long qt syndrome-10|C2678484 hypotonia-cystinuria syndrome |C1848030 autoimmune lymphoproliferative syndrome type iv|C1328840 exostoses, multiple, type 3 |C1442903 cardiomyopathy, familial hypertrophic, 18|C0020564 cardiomyopathy, familial hypertrophic, 19|C0020564 centrotemporal epilepsy |C2363129 progressive external ophthalmoplegia, autosomal recessive|C0162674 achondrogenesis ib|C0001079 diabetes mellitus, insulin-dependent, 24 |C0011849 heterotaxy, visceral, 3, autosomal |C3838680 hypobetalipoproteinemia|C0020597 combined malonic and methylmalonic aciduria|C1855119 deafness, autosomal recessive 67|C0011053 koolen-de vries syndrome|C1864871 alzheimer disease, pathogenesis, association with|C0699748 birt-hogg-dube syndrome|C0346010 myopathy, distal, with anterior tibial onset|C0026848 agammaglobulinemia, x-linked 1|C0001768 charcot-marie-tooth disease, type 2a1|C0007959 epidermolysis bullosa simplex, koebner type|C0079298 charcot-marie-tooth disease, type 2a2|C0007959 inflammatory bowel disease 16 |C2677093 46xy sex reversal 7|C4022995 cardiomyopathy, dilated 1b |C0700124 dysfibrinogenemia, gamma type |C1260903 46xy sex reversal 8|C4022995 46xy sex reversal 5|C4022995 46xy sex reversal 6|C4022995 diabetes mellitus, insulin-dependent, 23 |C0011849 lymphoma, non-hodgkin|C0024305 46xy sex reversal 3|C4022995 46xy sex reversal 1|C4022995 cardiomyopathy, familial hypertrophic, 20|C3842589 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures|C0016658 progressive familial heart block, type ib|C1879286 coproporphyria|C0342856 deafness, autosomal recessive 77|C0011053 deafness, autosomal recessive 76|C0011053 deafness, autosomal recessive 79|C0011053 mesomelia-synostoses syndrome |C0039082 cardiomyopathy, familial hypertrophic, 4|C0020564 methemoglobinemias, beta- |C0025637 cardiomyopathy, familial hypertrophic, 3|C0020564 cardiomyopathy, familial hypertrophic, 2|C0020564 coloboma of optic nerve|C0009363 deafness, autosomal recessive 53|C0011053 spastic paraplegia 43, autosomal recessive|C0037772 cardiomyopathy, familial hypertrophic, 1|C0020564 cardiomyopathy, familial hypertrophic, 8|C0020564 myopathy, reducing body, x-linked, severe early-onset|C1833334 cardiomyopathy, familial hypertrophic, 7|C0020564 hajdu-cheney syndrome|C0917715 moyamoya disease |C2931384 cardiomyopathy, familial hypertrophic, 9|C0020564 branchiootorenal syndrome 2|C1970479 aneurysm, intracranial berry, 9 |C0002940 myhre syndrome|C0796081 spondylocostal dysostosis 1, autosomal recessive|C0265343 charcot-marie-tooth disease, type 2b2|C0007959 hypotrichosis, hereditary, marie unna type|C0020678 deafness, autosomal recessive 5 |C0011053 asperger syndrome susceptibility, x-linked 2|C0236792 zygodactyly 1 |C1853294 asperger syndrome susceptibility, x-linked 1|C0236792 charcot-marie-tooth disease, type 2b1|C0007959 microcephaly and chorioretinopathy with or without mental retardation|C0025362 auriculocondylar syndrome 2|C3553404 cardiofaciocutaneous syndrome 2|C3809005 enterokinase deficiency|C0268416 auriculocondylar syndrome 1|C1865295 cardiofaciocutaneous syndrome 3|C3809006 ceroid lipofuscinosis, neuronal, 13, kufs type|C0027877 cardiofaciocutaneous syndrome 4|C3809007 deafness, autosomal recessive 48|C0011053 deafness, autosomal recessive 49|C0011053 mcardle disease|C0017924 alagille syndrome 2|C1857761 phospholipase a2, group iv a, deficiency of |C0162429 schistosoma mansoni infection, susceptibility/resistance to |C0036330 deafness, autosomal recessive 61|C0011053 longevity 2 |C2751375 thyroid carcinoma, nonmedullary, with cell oxyphilia |C0549473 deafness, autosomal recessive 63|C0011053 epilepsy, progressive myoclonic 6|C0014544 prostate cancer, hereditary, 5|C0376358 epilepsy, progressive myoclonic 5|C0014544 rippling muscle disease|C1853698 keratoconus 2 |C1837090 pierre robin syndrome |C0031900 emery-dreifuss muscular dystrophy 3, ar|C2986463 thanatophoric dysplasia, type i|C1868678 usher syndrome, type ik |C0271097 glycogen storage disease 0, muscle|C3842591 alpha-1-antichymotrypsin deficiency |C0400965 cohen syndrome|C0265223 inflammatory bowel disease 18 |C2677090 deafness, autosomal recessive 59|C0011053 hydranencephaly with abnormal genitalia|C0744356 ehlers-danlos syndrome, type viii |C0013720 hypertension, essential |C1963138 longevity 1 |C2750617 deafness, autosomal recessive 31|C0011053 deafness, autosomal recessive 30|C3842588 major affective disorder-9, susceptibility to |C2700440 obesity, morbid, due to leptin deficiency|C3554224 orotic aciduria|C0268130 bleeding disorder, platelet-type, 8|C0005779 scoliosis, idiopathic 1 |C0700208 deafness, autosomal recessive 1a|C0011053 hypogonadotropic hypogonadism 11 with or without anosmia|C0003126 mitochondrial dna depletion syndrome 3 (hepatocerebral type)|C0039082 lymphangioleiomyomatosis, somatic|C0751674 deafness, autosomal recessive 1b|C0011053 cone-rod dystrophy, x-linked, 1|C3816745 alopecia, neurologic defects, and endocrinopathy syndrome|C0039082 keratitis-ichthyosis-deafness syndrome|C3665333 deafness, autosomal recessive 29|C3843708 crohn disease-associated growth failure|C0015544 newfoundland rod-cone dystrophy|C1843815 deafness, autosomal recessive 25|C0011053 deafness, autosomal recessive 28|C0011053 deafness, autosomal recessive 22|C0011053 deafness, autosomal recessive 21|C0011053 epidermolysis bullosa, junctional, herlitz type|C0014527 glaucoma 1, open angle, h |C0429524 phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency|C0162429 deafness, autosomal recessive 24|C0011053 deafness, autosomal recessive 23|C0011053 erythrocytosis due to bisphosphoglycerate mutase deficiency|C1291620 hypertension, pregnancy-induced|C0020538 deafness, autosomal recessive 42|C0011053 sex hormone-binding blobulin circulating level qtl 1 |C1314687 cirrhosis, north american indian childhood type|C1623038 prostate cancer, susceptibility to, 4|C0376358 scoliosis, idiopathic 2 |C0700208 panic disorder syndrome 1 |C0039082 vitelliform macular dystrophy, adult-onset|C1853562 cleft palate, isolated|C1837218 retinitis pigmentosa, y-linked |C0035334 esophageal carcinoma, somatic|C0152018 coenzyme q10 deficiency, primary, 6|C1843920 prostate cancer, susceptibility to, 3|C3838680 coenzyme q10 deficiency, primary, 5|C1843920 deafness, autosomal recessive 37|C0011053 deafness, autosomal recessive 36|C0011053 deafness, autosomal recessive 39|C0011053 multiple congenital anomalies-hypotonia-seizures syndrome 2|C3275508 multiple congenital anomalies-hypotonia-seizures syndrome 1|C3279775 glaucoma 1, open angle, i |C0429524 cardiomyopathy, familial restrictive, 3|C0878544 multiple congenital anomalies-hypotonia-seizures syndrome 3|C3809356 deafness, autosomal recessive 35|C0011053 retinal cone dystrophy 4|C1864849 adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete|C4022995 lhermitte-duclos syndrome|C0152134 dupuytren contracture 1 |C1851997 retinal cone dystrophy 3|C1865869 corneal dystrophy, thiel-behnke type |C0010036 hyperprolactinemia|C0020514 celiac disease, susceptibility to, 4|C0007570 endocrine-cerebroosteodysplasia|C2675227 growth hormone deficiency with pituitary anomalies|C1400201 celiac disease, susceptibility to, 3|C3838680 chromosome 16p12.1 deletion syndrome, 520kb |C0039082 aortic valve disease|C1260873 bifid nose with or without anorectal and renal anomalies|C0266292 phosphoserine phosphatase deficiency|C1291463 prostate cancer aggressiveness qtl|C1853195 schizophrenia 16 |C3151408 urocanase deficiency|C0268514 cataract 30, pulverulent|C3805411 sickle cell anemia|C0002895 ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency|C0021051 epilepsy idiopathic generalized, susceptibility to, 8|C0014544 spastic paraplegia 31, autosomal dominant|C0037772 tibial muscular dystrophy, tardive|C1450052 myopathy, proximal, with early respiratory muscle involvement|C0026848 macrostomia |C0024433 small patella syndrome|C1840061 temtamy syndrome|C1857512 myocardial infarction, susceptibility to|C0027051 mental retardation and microcephaly with pontine and cerebellar hypoplasia|C0266470 hydrocephalus, autosomal dominant |C0020255 porphyria, acute intermittent|C0032708 premature chromatid separation trait|C1864389 de la chapelle dysplasia|C1850555 oguchi disease-2|C3150678 pseudoxanthoma elasticum, forme fruste|C0473583 oguchi disease-1|C1306122 omenn syndrome|C2700553 hypercalciuria, absorptive, susceptibility to|C3845919 charcot-marie-tooth disease, x-linked recessive, 5|C1845977 microphthalmia with coloboma 1 |C0009363 neutrophilia, hereditary|C3665444 leukemia, chronic myeloid|C0023418 hirschsprung disease, susceptibility to, 2|C3833492 mental retardation, severe, with spasticity and tapetoretinal degeneration |C0035334 trehalase deficiency|C0268187 hirschsprung disease, susceptibility to, 3|C3838680 hirschsprung disease, susceptibility to, 1|C3816745 myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant|C1833334 saethre-chotzen syndrome with eyelid anomalies|C1404179 otopalatodigital syndrome, type i|C1844696 hirschsprung disease, susceptibility to, 4|C0019569 split-hand/foot malformation 3, gene duplication syndrome |C0039082 alveolar soft-part sarcoma|C0206657 cholestasis, benign recurrent intrahepatic, 2|C0008370 alzheimer disease 9, late onset, susceptibility to|C1837149 mucopolysaccharidosis type ivb (morquio)|C0086652 thrombocytopenia-absent radius syndrome|C0175703 microphthalmia with coloboma 2 |C0009363 myoglobinuria, acute recurrent, autosomal recessive|C0027080 migraine, familial typical, susceptibility to, 2 |C3833492 vater association with macrocephaly and ventriculomegaly|C1531647 aneurysm, intracranial berry|C0002940 cystinosis, late-onset juvenile or adolescent nephropathic|C0022658 leber congenital amaurosis 15|C3151206 leber congenital amaurosis 16|C3280062 leber congenital amaurosis 13|C2675186 leber congenital amaurosis 14|C2750063 retinitis pigmentosa, x-linked recessive|C1845977 leber congenital amaurosis 11|C1840284 leber congenital amaurosis 12|C1857743 immunodeficiency due to casp8 deficiency|C1846545 leber congenital amaurosis 10|C1857821 mental retardation, x-linked, syndromic 17 |C0039082 nijmegen breakage syndrome|C0398791 leber congenital amaurosis 17|C3715164 primary lateral sclerosis, juvenile|C0154682 charcot-marie-toothe disease, axonal, type 2p|C0007959 dentatorubro-pallidoluysian atrophy|C0393578 mucopolysaccharidosis iva|C0026703 dysautonomia, familial|C0013363 argininosuccinic aciduria|C0268547 hypercarotenemia and vitamin a deficiency, autosomal dominant|C0042842 wiedemann-steiner syndrome|C1854630 radial ray deficiency |C0162429 febrile seizures, familial, 4|C0009952 epilepsy, juvenile myoclonic, susceptiblity to, 9 |C0014544 ataxia, sensory, 1, autosomal dominant|C3816745 febrile seizures, familial, 8|C0009952 star syndrome|C2678045 atopy, resistance to|C0392707 arthrogryposis multiplex congenita, distal, type 1|C0003886 malignant mesothelioma, susceptibility to |C1290375 dystonia-11, myoclonic|C1834570 diarrhea 3, secretory sodium, congenital, syndromic|C0039082 meningioma, radiation-induced |C1762616 spastic paraplegia 26, autosomal recessive|C0037772 chondrodysplasia, blomstrand type|C0343284 rolandic epilepsy, mental retardation, and speech dyspraxia|C0264611 polycystic kidney and hepatic disease|C0023895 cap myopathy 1|C3714994 cap myopathy 2|C3807907 high density lipoprotein cholesterol level qtl 10|C3842590 lymphoma, non-hodgkin, somatic|C0024305 vitreoretinopathy, neovascular inflammatory|C4068891 atherosclerosis, susceptibility to |C0004153 rhabdomyosarcoma 2, alveolar|C0206655 epidermolysis bullosa, junctional, with pyloric atresia|C0266159 schizophrenia 10 |C0543918 heart block, progressive, type ia|C0018794 hyperornithinemia-hyperammonemia-homocitrullinemia syndrome|C0268540 pontocerebellar hypoplasia type 2a|C1848526 neuroepithelioma|C0206663 pontocerebellar hypoplasia type 2b|C2676466 skin/hair/eye pigmentation 8, freckling |C0016689 pontocerebellar hypoplasia type 2c|C2676465 pontocerebellar hypoplasia type 2d|C1261175 arterial calcification, generalized, of infancy, 1|C3816745 epilepsy, progressive myoclonic 1b|C0014544 thyroid carcinoma, follicular|C0549473 crouzon syndrome|C2931196 leprosy, susceptibility to|C0023343 maculopathy, bull's-eye |C0730362 duane-radial ray syndrome|C1623209 mental retardation, x-linked, syndromic 12 |C0039082 wagner syndrome 1|C1840452 cystic fibrosis|C0010674 spinal muscular atrophy, distal, x-linked 3|C0026847 arterial calcification, generalized, of infancy, 2|C3833492 aerodigestive tract cancer, squamous cell, alcohol-related, protection against |C1545588 deafness, mitochondrial, modifier of|C0011053 cortical dysplasia, complex, with other brain malformations 2|C0000768 cortical dysplasia, complex, with other brain malformations 1|C0266449 cortical dysplasia, complex, with other brain malformations 4|C0000768 focal dermal hypoplasia|C0016395 lipoma, somatic |C0023798 cortical dysplasia, complex, with other brain malformations 3|C0266449 chromosome 14q11-q22 deletion syndrome |C3150707 nephrolithiasis, type i|C0022650 pontocerebellar hypoplasia type 1a|C1261175 pulmonary hypertension, neonatal, susceptibility to|C1963220 severe combined immunodeficiency due to il2 deficiency |C0162429 spinal muscular atrophy, type iii, modifier of|C0026847 microvascular complications of diabetes 6|C0011849 factor x deficiency|C0015519 microvascular complications of diabetes 7|C0011849 microvascular complications of diabetes 4|C0011849 microvascular complications of diabetes 5|C0011849 microvascular complications of diabetes 2|C0011849 microvascular complications of diabetes 3|C0011849 microvascular complications of diabetes 1|C0011849 aplastic anemia|C0002874 hypogonadotropic hypogonadism 5 with or without anosmia|C0003126 insomnia |C1963237 tremor, hereditary essential, 4|C1963252 spastic paraplegia 19, autosomal dominant |C0037772 wilms tumor|C0027708 epidermolysis bullosa pruriginosa|C1275114 trimethylaminuria|C0342739 platelet glycoprotein iv deficiency|C1842090 adrenocorticotropic hormone deficiency|C0342388 mental retardation, x-linked syndromic, shashi type |C0039082 anosmia, isolated congenital |C0003126 membranous nephropathy, susceptibility to |C0017665 cone dystrophy-3|C1865869 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy|C0152025 dementia, familial british|C0011265 multiple sclerosis, susceptibility to, 2 |C3833492 smith-magenis syndrome|C0795864 darier disease|C0022595 major depressive disorder 2|C1837529 major depressive disorder 1|C1837929 end-stage renal disease, nondiabetic, susceptibility to|C2316810 methylmalonic aciduria due to transcobalamin receptor defect|C1855119 prader-willi syndrome|C0032897 speech-sound disorder |C4019167 hemorrhage, intracerebral, susceptibility to|C0019080 prolidase deficiency|C0268532 desmosterolosis|C1865596 pigment disorder, reticulate |C0549567 muscular dystrophy, limb-girdle, type 2q|C0026850 muscular dystrophy, limb-girdle, type 2r|C0026850 muscular dystrophy, limb-girdle, type 2s|C0026850 thyroxine-binding globulin deficiency |C1839141 agammaglobulinemia 7, autosomal recessive|C0001768 bulimia nervosa, age of onset of weight loss in|C2911645 muscular dystrophy, limb-girdle, type 2f|C0026850 muscular dystrophy, limb-girdle, type 2g|C0026850 muscular dystrophy, limb-girdle, type 2h|C0026850 bacteremia, protection against|C1545588 macular degeneration, juvenile|C0242383 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1|C3816745 muscular dystrophy, limb-girdle, type 2j|C0026850 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2|C3833492 mycobacterial and viral infections, susceptibility to, autosomal recessive|C0042769 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3|C3838680 muscular dystrophy, limb-girdle, type 2l|C0026850 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4|C0015393 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5|C0015393 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6|C0015393 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|C0015393 van buchem disease, type 2|C0432272 glomerulosclerosis, focal segmental, 1|C0178664 glomerulosclerosis, focal segmental, 3|C0178664 mental retardation, autosomal recessive 16 |C0025362 glomerulosclerosis, focal segmental, 2|C0178664 glomerulosclerosis, focal segmental, 5|C0178664 prostate cancer, familial, susceptibility to|C0376358 glomerulosclerosis, focal segmental, 6|C0178664 night blindness, congenital stationary (complete), 1f, autosomal recessive|C3839460 fructosuria|C0268160 spastic ataxia 1, autosomal dominant |C1849156 muscular dystrophy, limb-girdle, type 1e|C0026850 fletcher factor deficiency|C0272339 combined oxidative phosphorylation deficiency 8|C3279793 multiple sclerosis, susceptibility to, 4 |C0026769 combined oxidative phosphorylation deficiency 9|C3281234 hemochromatosis, type 3|C0018995 hemochromatosis, type 4|C0018995 combined oxidative phosphorylation deficiency 4|C1857682 hemochromatosis, type 5|C0018995 combined oxidative phosphorylation deficiency 5|C2673642 combined oxidative phosphorylation deficiency 6|C3151753 combined oxidative phosphorylation deficiency 7|C3150801 muscular dystrophy, limb-girdle, type 2a|C0026850 muscular dystrophy, limb-girdle, type 2b|C0026850 combined oxidative phosphorylation deficiency 1|C1836797 kala-azar, susceptibility to, 1 |C3816745 mandibuloacral dysplasia with type b lipodystrophy|C0023787 muscular dystrophy, limb-girdle, type 2c|C0026850 combined oxidative phosphorylation deficiency 2|C1864843 drug addiction, susceptibility to|C1510472 macular degeneration, age-related, neovascular type|C4068891 muscular dystrophy, limb-girdle, type 2d|C0026850 partington syndrome|C0220775 cirrhosis due to liver phosphorylase kinase deficiency |C0268147 combined oxidative phosphorylation deficiency 3|C1864840 muscular dystrophy, limb-girdle, type 2e|C0026850 asthma, protection against|C1545588 bartter syndrome, type 1|C0004775 bartter syndrome, type 2|C0004775 mental retardation, autosomal recessive 19 |C0025362 bartter syndrome, type 3|C0004775 gardner syndrome|C0017097 leukemia, acute myeloid, therapy-related |C1363945 melanoma, desmoplastic neurotrophic |C1511789 panic disorder, susceptibility to|C1868649 jervell and lange-nielsen syndrome 2|C2676723 chromosome 7q11.23 deletion syndrome, distal, 1.2mb |C3816745 mitochondrial dna depletion syndrome 6 (hepatocerebral type)|C1850406 pyruvate dehydrogenase e2 deficiency|C1855565 spastic paraplegia 12, autosomal dominant|C0037772 multiple sclerosis, susceptibility to, 3 |C3838680 myasthenia, familial infantile|C0947912 achalasia-addisonianism-alacrimia syndrome|C0271742 kala-azar, susceptibility to, 2 |C3833492 muscular dystrophy, limb-girdle, type 1a|C0026850 microcephaly, amish type|C0025958 muscular dystrophy, limb-girdle, type 1b|C0026850 hypotrichosis 10 |C3280253 nasopharyngeal carcinoma 1 |C2931822 cataract, congenital |C0086543 pachyonychia congenita, jadassohn-lewandowsky type|C0265334 hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency|C0852654 knobloch syndrome, type 1|C1849409 treacher collins syndrome 3|C1855433 optic nerve hypoplasia and abnormalities of the central nervous system|C0000768 treacher collins syndrome 2|C3150983 chromosome 16p11.2 deletion syndrome, 593kb |C3697355 treacher collins syndrome 1|C0242387 neuropathy, distal hereditary motor, type iib|C0442874 schizophrenia|C0036341 celiac disease, susceptibility to|C0007570 spinal muscular atrophy, distal, autosomal recessive, 5|C0026847 hypercholesterolemia, familial, 3|C3838680 spinal muscular atrophy, distal, autosomal recessive, 4|C0026847 thoracoabdominal syndrome |C0559483 neuropathy, distal hereditary motor, type iia|C0442874 deafness, autosomal recessive |C0011053 oculodentodigital dysplasia, autosomal recessive|C0812437 renal hypoplasia, isolated|C0266295 dystonia, dopa-responsive, due to sepiapterin reductase deficiency|C0268468 krabbe disease, atypical|C0741302 anorexia nervosa, susceptibility to, 1 |C3816745 autoimmune disease, syndromic multisystem|C0039082 ehlers-danlos syndrome, type iii|C0013720 atrioventricular septal defect, partial, with heterotaxy syndrome|C3178805 hyperhidrosis palmaris et plantaris |C1274743 meningioma, sis-related|C0445223 amyotrophic lateral sclerosis 16, juvenile|C0002736 hfe hemochromatosis, modifier of|C0018995 branchiooculofacial syndrome|C0376524 sudden infant death syndrome, susceptibility to|C0038644 macular dystrophy, vitelliform|C0339508 skin/hair/eye pigmentation 3, blue/green eyes|C3812802 viral infections, recurrent |C0042769 spiegler-brooke syndrome |C1857941 panic disorder 3 |C1864946 heterotaxy, visceral, 2, autosomal|C3833492 mycobacterium tuberculosis, susceptibility to, 3 |C3838680 polydactyly, preaxial type ii|C0152427 craniosynostosis, adelaide type |C0010278 cystic fibrosis lung disease, modifier of|C0012634 myelokathexis, isolated |C0272173 specific language impairment 5|C3809483 ectodermal dysplasia 3, witkop type|C0013575 disordered steroidogenesis due to cytochrome p450 oxidoreductase|C0012634 muir-torre syndrome|C1321489 mycobacterium tuberculosis, susceptibility to, 2 |C3833492 hermansky-pudlak syndrome 9|C3280026 panic disorder 2 |C1842922 rickets due to defect in vitamin d 25-hydroxylation|C0035579 hermansky-pudlak syndrome 7|C3279756 ectodermal dysplasia 4, hair/nail type|C0013575 hermansky-pudlak syndrome 8|C3888026 hermansky-pudlak syndrome 5|C3888004 hermansky-pudlak syndrome 6|C3888007 hermansky-pudlak syndrome 3|C3888001 bulimia nervosa, susceptibility to |C2267227 hermansky-pudlak syndrome 4|C3484357 mitochondrial complex i deficiency|C1838979 hermansky-pudlak syndrome 1|C2931875 hermansky-pudlak syndrome 2|C1842362 alacrima, achalasia, and mental retardation syndrome|C0039082 erythremias, beta- |C0032463 hepatic failure, early onset, and neurologic disorder |C0027765 ventricular septal defect 3|C3280785 ventricular septal defect 2|C3280783 ventricular septal defect 1|C3280777 weill-marchesani-like syndrome|C0039082 preeclampsia, susceptibility to |C0032914 neutropenia, severe congenital 4, autosomal recessive|C0027947 neuropathy, distal hereditary motor, jerash type |C0442874 phosphohydroxylysinuria|C3554344 myofibromatosis, infantile, 1|C3816745 myeloid leukemia, acute, m4/m4eo subtype, somatic|C0023470 iron-refractory iron deficiency anemia|C0085576 neutropenia, neonatal alloimmune |C0027947 aortic aneurysm, familial thoracic 1 |C0003486 platelet-activating factor acetylhydrolase deficiency|C3280315 meconium ileus in cystic fibrosis, susceptibility to |C0010674 myopathy, myosin storage|C0026848 neutropenia, severe congenital, 5, autosomal recessive|C0027947 macular degeneration, age-related, 10|C0445223 macular degeneration, age-related, 11|C0445223 macular degeneration, age-related, 12|C0445223 synovitis, chronic, susceptibility to |C0039103 chromosome 17q23.1-q23.2 deletion syndrome |C3150607 glucocorticoid deficiency 3 |C1836621 cranioectodermal dysplasia 4|C3280616 myasthenic syndrome, congenital, associated with episodic apnea|C3806500 cranioectodermal dysplasia 2|C3150874 multicentric carpotarsal osteolysis syndrome|C2674705 porokeratosis 7 |C0949506 cranioectodermal dysplasia 3|C3279807 optic atrophy-4 |C1854430 cranioectodermal dysplasia 1|C0432235 macrocephaly with multiple epiphyseal dysplasia and distinctive facies |C0424503 eagle-barrett syndrome|C0033770 nephronophthisis 11|C3150796 deafness, autosomal recessive 44 |C0011053 venous thromboembolism, susceptibility to|C1861172 nephronophthisis 15|C3541853 diabetes mellitus, type 2, susceptibility to|C0011849 nephronophthisis 14|C3539071 nephronophthisis 13|C3280612 paroxysmal nocturnal hemoglobinuria 2|C3809369 senior-loken syndrome 3 |C1846980 nephronophthisis 12|C3151186 spastic paralysis, infantile onset ascending|C1848924 ovarian response to fsh stimulation|C1704632 spastic paraplegia 5a, autosomal recessive|C0037772 morning glory disc anomaly|C4017663 nephronophthisis 16|C3809320 sertoli-cell-only syndrome |C1384583 colorectal cancer, somatic |C1527249 lesch-nyhan syndrome|C0023374 leprosy, susceptiblity to, 6 |C0023343 aquaporin-1 deficiency |C4015883 waardenburg syndrome/albinism, digenic|C0001916 major affective disorder 3, early onset |C1833334 medullary thyroid carcinoma, familial|C0238462 peripheral arterial occlusive disease 1 |C1847493 corneal dystrophy, thiel-behnke type|C0010036 porokeratosis 6 |C0949506 deafness, autosomal dominant 22, with hypertrophic cardiomyopathy|C0007194 myopathy, spheroid body|C0026848 atrial standstill, digenic|C1838539 martsolf syndrome|C0796037 congenital heart defects, nonsyndromic, 2|C3833492 immunodeficiency with hyper igm, type 5|C0424295 osteoglophonic dysplasia|C0432283 tetra-amelia, autosomal recessive|C2931216 breast cancer susceptibility|C0006142 endometrial stromal tumors |C0334695 waardenburg syndrome, type 2e, with or without neurologic involvement|C3266898 buruli ulcer, susceptibility to|C0085568 sulfite oxidase deficiency|C0268624 split hand/foot malformation 1 |C2931019 deafness, autosomal recessive 40 |C0011053 liver failure, transient infantile|C0085605 cone-rod retinal dystrophy-1 |C0339530 vertical talus, congenital|C0240912 amelogenesis imperfecta, hypomaturation type, iia4|C0002452 mullerian aplasia and hyperandrogenism|C0206081 amelogenesis imperfecta, hypomaturation type, iia3|C0002452 leber optic atrophy, susceptibility to |C0917796 short-rib thoracic dysplasia 9 with or without polydactyly|C0152427 amelogenesis imperfecta, type 3|C0002452 thyroid carcinoma, papillary, somatic|C0549473 diabetes insipidus, neurohypophyseal|C0011848 retinitis pigmentosa-12, autosomal recessive|C1838647 fatty liver, acute, of pregnancy|C0015695 follicular lymphoma, susceptibility to, 1 |C3816745 adenylosuccinase deficiency|C2676173 leukemia-1, t-cell acute lymphocytic |C0023418 phosphoserine aminotransferase deficiency|C1970253 verheij syndrome|C3810023 microcephaly 7, primary, autosomal recessive|C0025958 deafness, autosomal recessive 12, modifier of|C0011053 split hand/foot malformation 2 |C1839258 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema|C0013604 methylmalonic aciduria and homocystinuria, cblj type|C0019880 polyhydramnios, megalencephaly, and symptomatic epilepsy|C0014544 bare lymphocyte syndrome, type i|C0242583 hypogonadotropic hypogonadism 13 with or without anosmia|C0003126 metatropic dysplasia|C0265281 resting heart rate|C1821417 osteogenesis imperfecta, type vii|C0029434 mental retardation, x-linked, syndromic, chudley-schwartz type, |C0039082 lactase deficiency, congenital|C0302813 parkinson disease 3 |C2931436 age-related hearing impairment 2 |C2751814 chondrodysplasia punctata, x-linked recessive|C1845977 pituitary hormone deficiency, combined, 1|C3816745 pituitary hormone deficiency, combined, 2|C3833492 chorea, hereditary benign|C0008489 leigh syndrome due to cytochrome c oxidase deficiency|C0268237 pituitary hormone deficiency, combined, 5|C0857439 glaucoma 3, primary congenital, d|C1962986 pituitary hormone deficiency, combined, 6|C0857439 pituitary hormone deficiency, combined, 3|C3838680 seizures, benign familial infantile, 3|C0036572 follicle-stimulating hormone deficiency, isolated|C0342386 pituitary hormone deficiency, combined, 4|C0857439 seizures, benign familial infantile, 2|C0036572 ataxia-ocular apraxia-2|C1853761 thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)|C1859178 centronuclear myopathy, autosomal, modifier of|C0175709 bamforth-lazarus syndrome|C1855794 ladd syndrome|C0265269 postaxial polydactyly, type a2 |C0431904 asthma and nasal polyps|C0027430 retinal nonattachment, nonsyndromic congenital |C2677304 basal laminar drusen|C0730295 gaucher disease, type i, 230800|C0017205 synpolydactyly 3 |C1853255 rh-mod syndrome |C4016365 systemic lupus erythematosus 16|C3280742 parkes weber syndrome|C0038505 sinoatrial node dysfunction and deafness|C0011053 nail disorder, nonsyndromic congenital, 10, (claw-shaped nails)|C3279974 alazami syndrome|C3554439 xeroderma pigmentosum, group e, ddb-negative subtype|C1513916 iga nephropathy, susceptibility to|C0017661 microphthalmia, syndromic 9|C0039082 ovarioleukodystrophy|C1847967 retinitis pigmentosa-40|C3151107 fibrochondrogenesis 2|C3281128 skin/hair/eye pigmentation 1, blue/nonblue eyes|C0578626 thyroid carcinoma, follicular, somatic|C0549473 cataract 32, multiple types |C0086543 renal tubular dysgenesis|C0266313 chromosome 1q21.1 deletion syndrome |C2675897 lymphedema-distichiasis syndrome|C0265345 migraine without aura, susceptibility to, 4 |C0236018 microphthalmia, syndromic 3|C0039082 microphthalmia, syndromic 2|C0039082 microphthalmia, syndromic 5|C0039082 spina bifida, susceptibility to|C0080178 microphthalmia, syndromic 7|C0039082 microphthalmia, syndromic 6|C0039082 neuropathy, motor and sensory, russe type |C0442874 cavitary optic disc anomalies |C1969063 pyogenic sterile arthritis, pyoderma gangrenosum, and acne|C0702166 aortic aneurysm, familial thoracic 2 |C0003486 spastic paraplegia 8, autosomal dominant|C1863704 hypoproteinemia, hypercatabolic|C0020639 skin/hair/eye pigmentation 10, blond/brown hair|C0574766 pseudovaginal perineoscrotal hypospadias|C0268297 memory, enhanced, qtl|C0700327 breast cancer|C0006142 proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis|C0027709 intestinal atresia, multiple|C0021828 hypertriglyceridemia, susceptibility to |C0020557 pseudoachondroplasia|C0410538 leukemia, philadelphia chromosome-positive, resistant to imatinib |C0023418 trigonocephaly 2|C3280974 leukodystrophy, hypomyelinating, 6|C0023520 leukodystrophy, hypomyelinating, 5|C0023520 selective t-cell defect|C2931299 trigonocephaly 1|C0432122 leukodystrophy, hypomyelinating, 4|C0023520 leukodystrophy, hypomyelinating, 3|C3838680 leukodystrophy, hypomyelinating, 2|C3833492 fructose-1,6-bidphosphatase deficiency|C0162429 mucolipidosis iv|C0238286 schimmelpenning-feuerstein-mims syndrome, somatic mosaic|C0265329 hemolytic anemia due to g6pd deficiency|C2939465 sensorineural deafness with mild renal dysfunction|C1565489 brunner syndrome|C0796275 liver failure, infantile, syndromic|C1558916 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency|C1291611 transcobalamin ii deficiency|C0342701 hypogonadotropic hypogonadism 7 with or without anosmia|C0003126 jacobsen syndrome |C0795841 carney complex variant|C1837245 rheumatoid arthritis, progression of|C0242656 folate malabsorption, hereditary|C2749650 phosphoribosylpyrophosphate synthetase superactivity|C1970827 mental retardation, with or without nystagmus|C0028738 c6 deficiency|C2676232 chromosome 18 pericentric inversion |C1836305 chromosome 2p12-p11.2 deletion syndrome |C3150804 pseudopseudohypoparathyroidism|C0033835 cerebroretinal microangiopathy with calcifications and cysts|C0010709 retinitis pigmentosa-50|C2750789 specific language impairment 4 |C2675874 macular degeneration, age-related, susceptibility to 5|C0445223 fibrodysplasia ossificans progressiva|C0016037 leukemia, transient, of down syndrome |C0013080 male infertility |C0021364 spastic paraplegia 9, autosomal dominant |C0037772 spastic paraplegia 38, autosomal dominant |C0037772 fibrochondrogenesis|C0265282 lipodystrophy, familial partial, type 3|C0023787 camurati-engelmann disease|C0011989 pulmonary alveolar microlithiasis|C0155912 birbeck granule deficiency|C3150657 histiocytoma, angiomatoid fibrous, somatic|C0016059 lymphoproliferative syndrome, x-linked, 1|C3816745 schizophrenia, susceptibility to, 17|C0036341 lipodystrophy, familial partial, type 5|C0023787 lipodystrophy, familial partial, type 4|C0023787 atrial fibrillation, familial, 3|C3838680 carboxypeptidase n deficiency|C0398782 atrial fibrillation, familial, 4|C0004238 atrial fibrillation, familial, 7|C0004238 atrial fibrillation, familial, 6|C0004238 lymphoproliferative syndrome, x-linked, 2|C3833492 arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair|C0343073 atrial fibrillation, familial, 9|C0004238 deafness, nonsyndromic |C2677304 kniest dysplasia|C0265279 tuberous sclerosis-2|C1860707 tuberous sclerosis-1|C1854465 spinocerebellar ataxia, autosomal recessive 8|C0087012 myopia, high, with cataract and vitreoretinal degeneration|C0344290 dystonia, early-onset atypical, with myoclonic features |C1833334 spinocerebellar ataxia, autosomal recessive 5|C0087012 spinocerebellar ataxia, autosomal recessive 7|C0087012 parkinson disease 13|C3496588 kowarski syndrome|C1849779 parkinson disease 11|C1843211 hyperalphalipoproteinemia 2|C3151467 parkinson disease 17|C3280133 weill-marchesani syndrome 3, recessive|C3553785 pyloric stenosis, infantile hypertrophic|C0020564 parkinson disease 14|C4016848 geleophysic dysplasia 2|C3280054 goiter, multinodular|C0018021 chromosome 6q11-q14 deletion syndrome |C3150790 geleophysic dysplasia 1|C3278147 nonsmall cell lung cancer, somatic|C0007131 parkinson disease 18|C3280271 emanuel syndrome |C1836929 esophageal cancer, somatic|C0014859 diabetes mellitus, permanent neonatal|C0011849 lipase deficiency, combined|C1291447 spastic paraplegia 15, autosomal recessive|C0037772 patent ductus arteriosus, susceptibility to |C0013274 glaucoma 1a, primary open angle|C0429524 axillary odor, variation in|C3149148 oi type iii|C0029434 mhc class ii deficiency, complementation group b|C0162429 retinitis pigmentosa, juvenile|C0035334 diabetes mellitus, type 2, susceptiblity to|C0011849 natural teeth remaining intact |C1554187 spastic paraplegia 41, autosomal dominant |C0037772 aortic aneurysm, familial abdominal|C0003486 avascular necrosis of the femoral head|C0027543 mucoepidermoid salivary gland carcinoma |C0948750 epidermolysis bullosa of hands and feet|C0014527 mental retardation, x-linked, with isolated growth hormone deficiency|C0013338 bile acid malabsorption, primary|C1963165 brachydactyly-mental retardation syndrome|C2931817 chromosome 17q12 deletion syndrome |C3281138 acropectoral syndrome |C1853812 kappa light chain deficiency|C3248381 mental retardation, anterior maxillary protrusion, and strabismus|C0038379 thrombocytopenia with beta-thalassemia, x-linked|C0005283 wolf-hirschhorn syndrome |C1956097 methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type|C1855119 3-methylcrotonyl-coa carboxylase 2 deficiency|C1859499 ataxia with isolated vitamin e deficiency|C0042875 autism susceptibility 16|C0004352 autism susceptibility 15|C0004352 autism susceptibility 17|C0004352 brittle cornea syndrome|C0268344 friedreich ataxia 2 |C1865981 succinyl coa:3-oxoacid coa transferase deficiency|C1291422 achondrogenesis, type ia|C0001079 thyrotropin-releasing hormone deficiency|C3887992 deafness, autosomal recessive 45 |C0011053 hypogonadotropic hypogonadism 20 with or without anosmia|C0003126 stiff skin syndrome|C1861456 glaucoma, normal tension, susceptibility to|C4068890 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3|C0039082 influenza, severe, susceptibility to|C0021400 jervell and lange-nielsen syndrome|C0022387 mammary-digital-nail syndrome |C3150946 retinal nonattachment, nonsyndromic congenital|C2677304 17-beta-hydroxysteroid dehydrogenase x deficiency|C1845517 triphalangeal thumb, type i|C0241397 chromosome 3q29 microdeletion syndrome |C0039082 retinopathy of prematurity|C0021294 maturity-onset diabetes of the young, type 11|C0011860 maturity-onset diabetes of the young, type 10|C3842590 usher syndrome, type 2c, gpr98/pdzd7 digenic|C0271097 autism susceptibility 3 |C0004352 du pan syndrome|C1856738 palmoplantar keratoderma, epidermolytic|C0333472 interferon, alpha, deficiency |C0162429 spastic paraplegia 14, autosomal recessive |C0037772 deafness, autosomal recessive 46 |C0011053 acrodysostosis 2, with or without hormone resistance|C0520983 frontotemporal lobar degeneration with ubiquitin-positive inclusions|C1838318 memory impairment, susceptibility to |C1963167 pettigrew syndrome |C0796254 encephalopathy, acute, infection-induced, 4, susceptibility to|C0858744 basal cell carcinoma, somatic|C0007117 klippel-feil syndrome 2, autosomal recessive |C4016650 autism susceptibility 4 |C0004352 nasu-hakola disease|C1857316 epilepsy, pyridoxine-dependent|C0014544 anemia, hypochromic microcytic, with iron overload 2|C0302870 lymphedema, hereditary i|C0024236 short-rib thoracic dysplasia 7 with or without polydactyly|C0152427 diabetes mellitus, gestational|C0011849 hypersensitivity syndrome, carbamazepine-induced, susceptibility to|C0543698 methemoglobinemia, type i|C0025637 retinol dystrophy, iris coloboma, and comedogenic acne syndrome|C0039082 coronary heart disease, susceptibility to, 9 |C0010068 myelodysplastic syndrome, somatic|C3463824 aromatic l-amino acid decarboxylase deficiency|C0342686 retinitis pigmentosa, juvenile, autosomal recessive|C0035334 naxos disease|C1832600 keratoconus 5 |C3553302 alpha-methylacyl-coa racemase deficiency|C3280428 factor v deficiency|C0015499 mitochondrial complex v (atp synthase) deficiency, nuclear type 1|C0162429 mitochondrial complex v (atp synthase) deficiency, nuclear type 2|C0162429 mitochondrial complex v (atp synthase) deficiency, nuclear type 3|C0162429 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations|C0000768 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4|C0948051 spermatogenic failure, x-linked|C3553794 scaphocephaly, maxillary retrusion, and mental retardation|C0025362 tuberculosis, susceptibility to|C0041296 gaucher disease, atypical|C0741302 neuroblastoma |C0027819 epilepsy, idiopathic generalized, susceptibility to 4 |C3838679 mitochondrial complex iv deficiency|C0268237 cardiomyopathy, familial restrictive|C0878544 cerebrooculofacioskeletal syndrome 2|C1853102 t-cell prolymphocytic leukemia, somatic |C2363142 cerebrooculofacioskeletal syndrome 1|C0220722 leukemia/lymphoma, b-cell|C0024299 obesity, variation in|C0028754 facial paresis, hereditary congenital|C0427055 neuroblastoma, susceptibility to, 1|C3816745 mosaic variegated aneuploidy syndrome 1|C1850343 neuroblastoma, susceptibility to, 2|C3833492 coronary heart disease, susceptibility to, 8 |C0010068 mosaic variegated aneuploidy syndrome 2|C3279843 neuroblastoma, susceptibility to, 3|C3838680 basal cell carcinoma, somatic |C0007117 dravet syndrome|C0751122 retinal dystrophy, early-onset, and pituitary dysfunction|C0281947 cerebrooculofacioskeletal syndrome 4|C1853100 keratoconus 6 |C3553306 palmoplantar keratoderma, nagashima type|C0022596 hypoaldosteronism, congenital, due to cmo ii deficiency|C0268293 spinal muscular atrophy-3|C0026847 spinal muscular atrophy-4|C2931844 spinal muscular atrophy-1|C0043116 spinal muscular atrophy-2|C0026847 wilms tumor susceptibility-5|C1832099 nemaline myopathy 2, autosomal recessive|C1850569 tn polyagglutination syndrome, somatic|C0272137 stickler syndrome, type ii|C2020284 ciliary dyskinesia, primary, 6|C0008780 ciliary dyskinesia, primary, 5|C0008780 feingold syndrome 2|C3280489 schwartz-jampel syndrome, type 1|C0036391 neuropathy, hereditary sensory, type ie|C0442874 neuropathy, hereditary sensory, type id|C0442874 ciliary dyskinesia, primary, 2|C3833492 myopathy, x-linked, with excessive autophagy |C0026848 neuropathy, hereditary sensory, type if|C0442874 yunis-varon syndrome|C1857663 thrombocythemia 2|C3275998 meesmann corneal dystrophy|C0339277 thrombocythemia 1|C3277671 dubin-johnson syndrome|C0022350 keratoconus 3 |C1837809 thrombocythemia 3|C3281125 thrombocytopenic purpura, autoimmune|C0443146 cataract 9, multiple types|C0086543 nephropathy, progressive, with deafness |C0011053 trichilemmal cyst 1 |C1864801 hailey-hailey disease|C0085106 wrinkly skin syndrome|C0406587 hypertensive nephropathy |C0848548 3mc syndrome 1|C0796059 3mc syndrome 2|C0796279 migraine, with or without aura, susceptibility to, 13|C0236018 stickler syndrome, type iv|C2020284 choreoathetosis, hypothyroidism, and neonatal respiratory distress|C0852283 deafness, autosomal dominant 6/14/38|C0011053 ovarian hyperstimulation syndrome|C0085083 hyperlipoproteinemia, type iii |C0020476 nail dysplasia, isolated congenital |C1834405 keratoconus 4 |C1836473 alpha-thalassemia/mental retardation syndrome, type 1 |C0475813 megalencephalic leukoencephalopathy with subcortical cysts 2a|C0010709 ethylmalonic encephalopathy|C1865349 chromosome 16q22 deletion syndrome |C3281152 microphthalmia with cataract 2|C0086543 sialidosis, type i|C0268226 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|C1832942 leukemia, acute lymphoblastic, susceptibility to |C0023418 fundus albipunctatus|C0311338 bestrophinopathy|C2678493 huntington disease|C0020179 amelogenesis imperfecta and gingival fibromatosis syndrome|C0039082 peroxisome biogenesis disorder 5a (zellweger)|C0282528 robinow-sorauf syndrome|C1867146 trichodontoosseous syndrome|C0039082 glycogen storage disease iiib|C1968740 glycogen storage disease iiia|C1968739 periodic fever, familial|C0015974 arthrogryposis, distal, type 10 |C3842590 thyroid papillary carcinoma|C0238463 mental retardation, x-linked 49 |C0025362 complement factor b deficiency|C3809950 renal carcinoma, chromophobe, somatic|C0007134 paragangliomas 1, with or without deafness|C0011053 tumoral calcinosis, hyperphosphatemic|C0085681 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis|C0002063 n-acetylglutamate synthase deficiency|C0268543 rett syndrome, congenital variant|C0332942 growth retardation with deafness and mental retardation due to igf1 deficiency|C3898747 hypothyroidism, congenital nongoitrous, 5|C0020676 esophagitis, eosinophilic, 2 |C3833492 hypertension, essential, susceptibility to, 6|C1963138 hypertension, essential, susceptibility to, 5|C1963138 ichthyosis histrix, curth-macklin type|C0020758 hypertension, essential, susceptibility to, 4|C1963138 beckwith-wiedemann syndrome|C0004903 hypertension, essential, susceptibility to, 3|C3838680 dystonia-1, torsion|C1265748 hypertension, essential, susceptibility to, 2|C3833492 hypertension, essential, susceptibility to, 1|C3816745 leukemia, acute promyelocytic, stat5b/rara type |C0023418 scurvy |C0036474 arts syndrome|C0796028 myasthenic syndrome, slow-channel congenital|C0549225 epiphyseal dysplasia, multiple, 6|C0392476 microcephalic osteodysplastic primordial dwarfism, type i|C0432244 emphysema due to aat deficiency|C0221757 cerebral-cerebellar-coloboma syndrome, x-linked |C0009363 dyserythropoietic anemia, congenital, type iii |C0678199 epiphyseal dysplasia, multiple, 4|C0392476 fanconi anemia, complementation group d1|C0015625 epiphyseal dysplasia, multiple, 5|C0392476 fanconi anemia, complementation group d2|C0015625 argininemia|C0268548 epiphyseal dysplasia, multiple, 2|C3833492 neural tube defects, folate-sensitive, susceptibility to|C0020517 breast cancer, early-onset|C1833334 epiphyseal dysplasia, multiple, 3|C3838680 kenny-caffey syndrome-1|C0265291 sturge-weber syndrome, somatic, mosaic|C0038505 thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)|C3280888 cone-rod dystrophy |C0035334 esophagitis, eosinophilic, 1 |C3816745 steatocystoma multiplex|C0259771 microphthalmia, syndromic 8 |C0039082 osteomalacia, tumor-induced |C0027651 stickler syndrome, type v|C2020284 hypogonadotropic hypogonadism 21 with anosmia|C0003126 polydactyly, postaxial, types a1 and b|C0152427 keratoconus 7 |C3553308 melanoma, cutaneous malignant, susceptibility to, 8|C0025202 breast cancer, lobular|C0006142 succinic semialdehyde dehydrogenase deficiency|C0268631 myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency|C0162429 antley-bixler syndrome without genital anomalies or disordered steroidogenesis|C0012634 vitiligo-associated multiple autoimmune disease susceptiblity 6 |C0443146 hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia|C0243069 pallister-killian syndrome |C0265449 forsythe-wakeling syndrome |C3150859 van den ende-gupta syndrome|C1833136 androgen insensitivity|C2874204 vitreoretinochoroidopathy|C1860406 megaloblastic anemia due to dihydrofolate reductase deficiency|C0268608 keratoconus 8 |C3553307 inflammatory skin and bowel disease, neonatal|C0021831 epidermolysis bullosa simplex, ogna type|C0079298 osteoarthritis with mild chondrodysplasia|C0343284 renal glucosuria|C0017980 xeroderma pigmentosum, group d|C0043346 xeroderma pigmentosum, group g|C0043346 myeloperoxidase deficiency|C0398595 stapes ankylosis with broad thumb and toes|C0426891 xeroderma pigmentosum, group f|C0043346 xeroderma pigmentosum, group a|C0043346 apert syndrome|C0001193 stickler syndrome, type i|C2020284 xeroderma pigmentosum, group c|C0043346 diabetes mellitus, insulin-dependent, neonatal |C0011849 xeroderma pigmentosum, group b|C0043346 aneurysm, intracranial berry, 10 |C0002940 visuospatial/perceptual abilities |C1839262 microphthalmia, syndromic 12|C0039082 corneal dystrophy, reis-bucklers type|C0010036 microphthalmia, syndromic 11|C0039082 thalassemia due to hb lepore |C0039730 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8|C0015393 t-cell acute lymphoblastic leukemia |C1961099 microphthalmia with limb anomalies|C0239337 protoporphyria, erythropoietic, autosomal recessive|C0162568 celiac disease, susceptibility to, 7 |C0007570 carcinoid tumors, intestinal|C0007095 nephrotic syndrome, type 5, with or without ocular abnormalities|C0000768 mitochondrial complex (atp synthase) deficiency, nuclear type 4|C0162429 neutral endopeptidase deficiency |C0162429 autoimmune thyroid disease, susceptibility to, 4 |C0178468 obesity, association with|C0028754 polyglucosan body disease, adult form|C3687361 diabetes mellitus, type 1|C0011849 obesity, hyperphagia, and developmental delay |C0557874 diabetes mellitus, type 2|C0011849 frank-ter haar syndrome|C1855305 interleukin 1 receptor antagonist deficiency|C2748507 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome|C0039082 complex i, mitochondrial respiratory chain, deficiency of|C0162429 holoprosencephaly 11|C3280215 amyotrophic lateral sclerosis 4, juvenile|C0002736 spastic paraplegia 30, autosomal recessive|C3842588 diabetes mellitus, type 1, susceptibility to|C0011849 hyperpigmentation, familial progressive, 2|C0162834 dystransthyretinemic hyperthyroxinemia|C2750824 leukemia, acute lymphocytic|C0023418 fumarase deficiency|C0342770 glass syndrome|C2676739 opitz gbbb syndrome, type i|C1801950 c8 deficiency, type ii|C3151082 celiac disease, susceptibility to, 6 |C0007570 lymphoma, follicular, somatic|C0024299 microphthalmia, syndromic 1 |C0039082 microtia with nasolacrimal duct imperforation and eye coloboma |C0009363 night blindness, congenital stationary (incomplete), 2a, x-linked|C3839460 paroxysmal extreme pain disorder|C1833661 cardiomypathy, familial hypertrophic, 22|C0020564 hypertension with brachydactyly |C0221357 hypoinsulinemic hypoglycemia with hemihypertrophy|C0332890 keratoderma, palmoplantar, punctate type 3 |C0022579 keratosis follicularis spinulosa decalvans, x-linked|C0343057 jawad syndrome|C0796063 hem skeletal dysplasia|C0029422 hyperprolinemia, type i|C0268528 mitochondrial dna depletion syndrome 4b (mngie type)|C0872218 barrett esophagus/esophageal adenocarcinoma|C3277074 natural killer cell and glucocorticoid deficiency with dna repair defect|C1955741 herpes simplex encephalitis, susceptibility to, 2 613002 |C3833492 seizures, benign neonatal, 1|C0036572 age-related hearing impairment 1 |C2676230 lymphedema, hereditary, ic|C0024236 autism, susceptibility to, 14b |C0004352 celiac disease, susceptibility to, 9 |C0007570 bacteremia, susceptibility to|C0004610 microphthalmia, syndromic 4 |C0039082 chromosome 8q21.11 deletion syndrome |C3280231 cutaneous telangiectasia and cancer syndrome, familial|C0039082 foveal hypoplasia and anterior segment dysgenesis |C0266525 chromosome 18p deletion syndrome |C0432442 blau syndrome|C1861303 autoimmune thyroid disease, susceptibility to, 2 |C3833492 hypercholesterolemia, familial|C1522133 chromosome xq28 duplication syndrome |C2749007 myopathy, congenital, with fiber-type disproportion 1|C0546264 hypospadias 1, x-linked|C1691215 glaucoma 3a, primary open angle, congenital, juvenile, or adult onset|C1853562 hepatic fibrosis susceptibility due to schistosoma mansoni infection |C0036330 spastic paraplegia 36, autosomal dominant |C0037772 exudative vitreoretinopathy-3 |C1854002 celiac disease, susceptibility to, 8 |C0007570 autoimmune thyroid disease, susceptibility to, 1 |C3816745 kallikrein, decreased urinary activity of |C3668946 plasminogen tochigi disease |C0012634 obesity, adrenal insufficiency, and red hair due to pomc deficiency|C4054152 skin/hair/eye pigmentation 2, blond hair/fair skin|C1849452 hyperlipoproteinemia, type ib|C0020476 systemic lupus erythematosus, susceptibility to, 13 |C0024141 vitreoretinopathy with phalangeal epiphyseal dysplasia |C0392476 glycerol quantitative trait locus|C3280715 iga nephropathy, susceptibility to, 2 |C3833492 asthma, susceptibility to, 1|C3816745 asthma, susceptibility to, 2|C3833492 pyridoxamine 5'-phosphate oxidase deficiency|C0162429 hennekam lymphangiectasia-lymphedema syndrome|C0340834 diaphyseal medullary stenosis with malignant fibrous histiocytoma|C0334463 nystagmus, infantile periodic alternating, x-linked|C4068741 myopathy, centronuclear|C0026848 tietz albinism-deafness syndrome|C0391816 microhydranencephaly |C1857977 3-m syndrome 1|C1848862 pulmonary hypertension, primary, 4|C1963220 systemic lupus erythematosus, susceptibility to, 14 |C0024141 pulmonary hypertension, primary, 3|C3838680 short sleeper|C0751509 pulmonary hypertension, familial primary, 1, with or without hht|C1963220 pulmonary hypertension, primary, 2|C3833492 hyperbiliverdinemia|C3279964 systemic lupus erythematosus, susceptibility to, 3 |C3838680 coronary heart disease, susceptibility to, 4 |C0010068 ehlers-danlos syndrome, type viib|C0013720 glycerol kinase deficiency|C0268418 ehlers-danlos syndrome, type viic|C0013720 heinz body anemias, alpha-|C0700299 skeletal defects, genital hypoplasia, and mental retardation|C0025362 celiac disease, susceptibility to, 2 |C3833492 ehlers-danlos syndrome, type viia|C0013720 coloboma, ocular|C0009363 nanophthalmos 2|C1836006 syndactyly, type iv|C0039075 brachyolmia 4 with mild epiphyseal and metaphyseal changes|C0432228 hypophosphatemic rickets, x-linked dominant|C1847879 muscular dystrophy, congenital, due to partial lama2 deficiency|C0162429 brain tumor-polyposis syndrome 2|C2673218 3-m syndrome 2|C1848862 hypogonadotropic hypogonadism 9 with or without anosmia|C0003126 mental retardation-hypotonic facies syndrome, x-linked|C2931183 shaheen syndrome|C3809160 dystonia, primary cervical |C0013421 epilepsy, juvenile myoclonic, susceptibility to, 5|C0014544 coronary heart disease, susceptibility to, 3 |C3838680 epilepsy, juvenile myoclonic, susceptibility to, 8|C0014544 contractural arachnodactyly, congenital|C0003706 rothmund-thomson syndrome|C0032339 spondylo-megaepiphyseal-metaphyseal dysplasia|C2750066 epilepsy, juvenile myoclonic, susceptibility to, 6|C0014544 dysfibrinogenemia, beta type |C1260903 celiac disease, susceptibility to, 5 |C0007570 wolcott-rallison syndrome|C0432217 giant platelet disorder, isolated|C0005818 obesity, late-onset|C0028754 agenesis of the corpus callosum with peripheral neuropathy|C0031117 hypertriglyceridemia, susceptibility to|C0020557 leber congenital amaurosis 6|C1854260 mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)|C1855119 leber congenital amaurosis 7|C3151192 leber congenital amaurosis 8|C3151202 leber congenital amaurosis 9|C1837873 leber congenital amaurosis 2|C1859844 leber congenital amaurosis 3|C1858677 moyamoya disease 2, susceptibility to|C1846689 trifunctional protein deficiency|C1969443 leber congenital amaurosis 4|C1858386 leber congenital amaurosis 5|C1858301 merkel cell carcinoma, somatic |C0007129 systemic lupus erythematosus, susceptibility to, 12 |C0024141 coronary heart disease, susceptibility to, 2 |C3833492 gracile syndrome|C1864002 leber congenital amaurosis 1|C2931258 leukemia, acute myeloid, somatic|C0023418 spastic paraplegia 42, autosomal dominant|C0037772 liposarcoma |C0023827 epidermolysis bullosa, pretibial|C0014527 mental retardation, x-linked 42 |C0025362 retinitis pigmentosa with or without situs inversus|C0037221 nicolaides-baraitser syndrome|C1303073 opsismodysplasia|C0432219 retinal arterial macroaneurysm with supravalvular pulmonic stenosis|C3280212 rett syndrome|C0035372 irak4 deficiency|C1843256 spinal muscular atrophy, late-onset, finkel type|C0026847 systemic lupus erythematosus, susceptibility to, 10|C0024141 obesity, mild, early-onset|C1833334 parkinson disease 15, autosomal recessive|C0030567 autoimmune disease, susceptibility to, 3 |C3838680 caudal duplication anomaly|C1842884 growth hormone deficiency, isolated, type ia|C0271561 papillorenal syndrome|C1852759 deafness, autosomal dominant 36|C0011053 sjogren-larsson syndrome|C0037231 multiple synostoses syndrome 2|C1832708 advanced sleep phase syndrome, familial, 1|C3816745 multiple synostoses syndrome 3|C2751826 epilepsy, nocturnal frontal lobe, type 2 |C0014544 deafness, autosomal dominant 28|C0011053 hypoplastic left heart syndrome 2|C3280795 thrombocytopenia, x-linked|C0040034 diabetes mellitus, transient neonatal 2|C0011849 hypoplastic left heart syndrome 1|C0152101 fucosidosis|C0016788 autoimmune disease, susceptibility to, 2 |C3833492 heart block, nonprogressive|C3839460 sotos syndrome 1|C0175695 sotos syndrome 2|C3553660 attention deficit-hyperactivity disorder, susceptibility to, 6 |C1263846 immunodeficiency, x-linked, with hyper-igm|C0424295 vitamin k-dependent clotting factors, combined deficiency of, 2|C3833492 glutaricaciduria, type i|C0268594 amyloidosis, hereditary, transthyretin-related|C0445223 edict syndrome|C3280392 hydrolethalus syndrome 2|C3279899 autoimmune disease, susceptibility to, 4 |C0004364 diabetes mellitus, noninsulin-dependent, late onset|C0011849 parkinson disease 1|C0030567 gilles de la tourette syndrome, susceptibility to|C0040517 deafness, autosomal dominant 44|C0011053 parkinson disease 4|C0030567 wiskott-aldrich syndrome 2|C3281001 deafness, autosomal dominant 41|C0011053 parkinson disease 8|C3501658 ovarian dysgenesis 1|C0949595 exudative vitreoretinopathy, x-linked|C4072980 glycogen storage disease x|C0268149 ovarian dysgenesis 2|C1845294 neutropenia, alloimmune neonatal |C0027947 ovarian dysgenesis 3|C3280471 hypotrichosis simplex of the scalp 2|C1854310 pregnancy loss, recurrent, susceptibility to, 1|C3816745 deafness, autosomal dominant 2b|C0011053 pregnancy loss, recurrent, susceptibility to, 2|C3833492 skin/hair/eye pigmentation 6, blond/brown hair|C0574766 growth hormone deficiency, isolated, type ib|C0271561 hepatocellular carcinoma, somatic|C2239176 pregnancy loss, recurrent, susceptibility to, 3|C3838680 growth hormone deficiency, isolated, type ii|C0271561 hyperoxaluria, primary, type ii|C0020500 hyperparathyroidism-jaw tumor syndrome|C1704981 deafness, autosomal dominant 2a|C0011053 attention deficit-hyperactivity disorder, susceptibility to, 5 |C1263846 gm2-gangliosidosis, ab variant|C0268275 spastic ataxia, charlevoix-saguenay type|C1849156 deafness, autosomal dominant 50|C3843766 hyperparathyroidism, familial primary|C0020502 oligodontia-colorectal cancer syndrome|C1837750 slowed nerve conduction velocity, ad|C1857640 deafness, autosomal dominant 56|C0011053 epiphyseal dysplasia, multiple, with myopia and deafness|C0011053 macroglobulinemia, waldenstrom, somatic|C0024419 sucrase-isomaltase deficiency, congenital|C1283620 dystonia-12|C1868681 macular degeneration, age-related, 14, reduced risk of|C0445223 high molecular weight kininogen deficiency|C0272340 hypothyroidism, autoimmune|C0443146 deafness, autosomal dominant 48|C0011053 li-fraumeni syndrome 3 |C1836481 deafness, autosomal dominant 3a|C0011053 heart-hand syndrome, slovenian type|C0265264 otosclerosis 10 |C3888339 spastic paraplegia 4, autosomal dominant|C3711371 deafness, autosomal dominant 3b|C0011053 protoporphyria, erythropoietic, x-linked|C0162568 immunodeficiency 18, scid variant|C0085110 fechtner syndrome|C0403445 fucosyltransferase 6 deficiency|C3151219 apnea, postanesthetic |C1963065 progressive external ophthalmoplegia, autosomal dominant|C0162674 thrombophilia due to heparin cofactor ii deficiency|C0398626 hyperparathyroidism 3 |C1864729 deafness, autosomal dominant 64|C0011053 chitotriosidase deficiency|C3279902 persistent truncus arteriosus|C0041207 deafness, digenic gjb2/gjb6|C0011053 left ventricular noncompaction 3, with or without dilated cardiomyopathy|C0007193 chromosome 17p13.1 deletion syndrome |C3151069 stargardt disease 3|C1838644 growth hormone insensitivity with immunodeficiency|C0021051 stargardt disease 4|C1863534 deafness, autosomal dominant 4b|C0011053 optic atrophy 2, x-linked |C1839576 deafness, x-linked 1, progressive |C0011053 stargardt disease 1|C1855465 deafness, autosomal dominant 4a|C0011053 bare lymphocyte syndrome, type ii, complementation group e|C2931418 spastic paraplegia 13, autosomal dominant|C4015940 bare lymphocyte syndrome, type ii, complementation group d|C2931418 systemic lupus erythematosus, susceptibility to, 9|C0024141 bare lymphocyte syndrome, type ii, complementation group c|C2931418 neutropenia, severe congenital 2, autosomal dominant|C0027947 mannosidosis, beta|C0024748 glaucoma 1k, primary open angle, juvenile-onset |C0429524 atopy, susceptibility to|C0392707 muscular dystrophy, limb-girdle, type ic|C0026850 deafness, autosomal dominant 7 |C0011053 aural atresia, congenital |C0243066 retinoblastoma|C0035335 anisomastia |C1854013 colorectal cancer, susceptibility to, 11 |C1527249 deafness, autosomal dominant, with peripheral neuropathy |C0031117 episodic pain syndrome, familial, 2|C3833492 bleeding disorder, platelet-type, 16, autosomal dominant|C0005779 episodic pain syndrome, familial, 3|C3838680 bare lymphocyte syndrome, type ii, complementation group a|C2931418 properdin deficiency, x-linked|C0398762 thyroid carcinoma, nonmedullary|C0549473 short-rib thoracic dysplasia 5 with or without polydactyly|C0152427 roifman-chitayat syndrome |C2750068 spastic paraplegia 51, autosomal recessive|C0037772 choreoathetosis/spasticity, episodic |C0026838 usher syndrome, type iic, gpr98/pdzd7 digenic|C0271097 vertigo, benign recurrent|C0042571 spastic paraplegia 7, autosomal recessive|C3711370 parathyroid carcinoma|C0687150 glomerulocystic kidney disease with hyperuricemia and isosthenuria|C0235627 hematuria, familial benign |C0018965 mental retardation, x-linked 92 |C0025362 insulinoma |C0021670 muckle-wells syndrome|C0268390 amyloidosis, 3 or more types|C3838680 orofacial cleft 8|C1851878 reticular dysgenesis|C0272167 supranuclear palsy, progressive|C0270920 orofacial cleft 7|C1833538 nasopharyngeal carcinoma, susceptibility to, 2 |C3833492 orofacial cleft 6|C3266076 orofacial cleft 5|C1837210 glycogen storage disease, type ixa1|C0017919 glycogen storage disease, type ixa2|C0017919 alzheimer disease 12 |C1970209 myotonia congenita, recessive|C0027127 pentosuria|C0268162 hyperpigmentation, familial progressive|C0162834 neutropenia, severe congenital 3, autosomal recessive|C0027947 rigidity and multifocal seizure syndrome, lethal neonatal|C3151529 glycogen storage disease, type 0|C3842591 6-mercaptopurine sensitivity|C0020517 glaucoma 1, open angle, g|C0429524 thrombophilia due to thrombomodulin defect|C0398623 glaucoma 1, open angle, e|C0429524 mental retardation, x-linked 95 |C0025362 glaucoma 1, open angle, f|C0429524 kabuki syndrome 2|C3275495 tetrasomy 18p |C0795868 kabuki syndrome 1|C0796004 histidinemia|C0220992 ellis-van creveld syndrome|C0013903 ciliary dyskinesia, primary, 9, with or without situs inversus|C0037221 glycogen storage disease of heart, lethal congenital|C3151529 polycythemia vera|C0032463 ragweed sensitivity |C1867394 acid-labile subunit, deficiency of |C0162429 otopalatodigital syndrome, type ii|C1844696 chondrodysplasia with joint dislocations, grapp type|C0012691 breast-ovarian cancer, familial, susceptibility to, 3|C3838680 breast-ovarian cancer, familial, susceptibility to, 4|C1140680 duane retraction syndrome 1 |C0994516 west nile virus, susceptibility to|C1096184 hmg-coa lyase deficiency|C0268601 cone-rod dystropy, x-linked, 3|C3838680 spastic paraplegia 24, autosomal recessive |C2931354 digeorge syndrome/velocardiofacial syndrome complex-2 |C1832431 hemolytic anemia due to phosphofructokinase deficiency |C0017926 pulmonary disease, chronic obstructive, susceptibility to|C0024115 shprintzen-goldberg syndrome|C1321551 exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like|C0020757 zimmermann-laband syndrome |C0796013 cutis laxa, autosomal recessive, type iiib|C0010495 cutis laxa, autosomal recessive, type iiia|C0010495 mednik syndrome|C0039082 pneumococcal disease, invasive, protection against|C1545588 arthrogryposis multiplex congenita, neurogenic |C0003886 geniospasm |C1860972 b-cell non-hodgkin lymphoma, high-grade |C0079731 best macular dystrophy|C0339510 hypertriglyceridemia, transient infantile|C0020557 gapo syndrome|C0406723 leukemia, acute myeloid, with eosinophilia |C1306759 macrothrombocytopenia and progressive sensorineural deafness|C2749351 angiofibroma, somatic |C0206731 multiple endocrine neoplasia, type iv|C0027662 spastic paraplegia 37, autosomal dominant |C0037772 tooth agenesis, selective, 1, with or without orofacial cleft|C3266076 hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1)|C1563719 asthma, susceptibility to|C0004096 gout susceptibility 4|C2675207 citrullinemia, adult-onset type ii|C1853562 retinitis pigmentosa 32 |C1835927 erythremias, alpha- |C0032463 pseudohermaphroditism, male, with gynecomastia|C1963120 pancreatic cancer, somatic |C0346647 psychomotor retardation, epilepsy, and craniofacial dysmorphism|C0376634 accelerated tumor formation, susceptibility to|C0027651 lung cancer|C1306460 charcot-marie-tooth disease, type 4b1|C0007959 myopia 18 |C2749509 hairy ears, y-linked |C0263482 lead poisoning, susceptibility to|C0023176 hypomagnesemia 1, intestinal|C0151723 ataxia, spastic, 4|C0026838 c4a deficiency|C3280642 roberts syndrome|C0392475 charcot-marie-tooth disease, type 4b2|C0007959 charcot-marie-tooth disease, type 4b3|C0007959 thyroid hormone resistance, selective pituitary|C0032002 polyposis syndrome, mixed hereditary 1 |C3160715 5-oxoprolinase deficiency|C0268525 van der woude syndrome 2 |C1847604 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency|C0272315 leukemia, acute t-cell lymphoblastic |C0023418 megaloblastic anemia-1, norwegian type|C1306856 deafness, autosomal recessive 8/10|C3842590 coronary artery disease, modifier of |C0010054 emery-dreifuss muscular dystrophy 2, ad|C0410190 hypercholesterolemia, familial, due to ldlr defect, modifier of|C1522133 myopia 19 |C0027092 lymphoma, mantle cell |C3846131 hiv1 infection, resistance to|C0276500 charcot-marie-tooth disease, dominant intermediate a |C0007959 cholesteryl ester storage disease|C0008384 ptosis, congenital|C0005745 mohr-tranebjaerg syndrome|C0796074 deafness, autosomal dominant 33 |C0011053 dyskeratosis, hereditary benign intraepithelial |C0334061 obesity, resistance to |C0028754 diabetes mellitus, type ii|C0011849 three m syndrome 3|C3280146 epilepsy, idiopathic generalized, 10|C3842590 hemolytic anemia due to adenylate kinase deficiency|C0398564 peroxisome biogenesis disorder 2a (zellweger)|C0282528 retinitis pigmentosa 34 |C1845104 alpha-ketoglutarate dehydrogenase deficiency|C2752074 neuroaxonal neurodegeneration, infantile, with facial dysmophism|C0027746 frasier syndrome|C0950122 usher syndrome, type ij|C0271097 c8 deficiency, type i|C3151082 glycine n-methyltransferase deficiency|C1847720 encephalopathy, familial, with neuroserpin inclusion bodies|C0006111 epilepsy, familial adult myoclonic|C0014544 becker muscular dystrophy|C0917713 supravalvar aortic stenosis|C0003499 arthrogryposis, distal, type 1b|C0003886 blue cone monochromacy|C0339537 episodic kinesigenic dyskinesia 2 |C1970238 breast-ovarian cancer, familial, 2|C3833492 hypotrichosis 8|C3279470 breast-ovarian cancer, familial, 1|C3816745 deafness, autosomal recessive 38 |C0011053 osteoporosis, susceptibility to|C0029456 spastic paraplegia 3a, autosomal dominant|C2931355 epilepsy, juvenile myoclonic 3 |C0014544 pituitary acth-secreting adenoma |C1306214 glycogen storage disease vii|C0017926 leukemia, acute lymphocytic, susceptibility to, 1 |C3816745 congestive heart failure and beta-blocker response, modifier of |C1704632 neutrophil immunodeficiency syndrome|C1842398 autism susceptibility, x-linked 1|C0004352 lissencephaly 4 (with microcephaly)|C0025958 spastic paraplegia, optic atrophy, and neuropathy |C0442874 asthma, diminished response to antileukotriene treatment in|C1704632 malaria, susceptibility to|C0024530 autism susceptibility, x-linked 3|C0004352 autism susceptibility, x-linked 2|C0004352 orthostatic intolerance|C1535893 methylmalonic aciduria and homocystinuria, cblf type|C1848578 abdominal obesity-metabolic syndrome |C2930930 leukodystrophy, adult-onset, autosomal dominant|C1853562 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma|C0149893 diabetes, susceptibility to, 222100|C0011847 cutis laxa, autosomal recessive, type ic|C0010495 cutis laxa, autosomal recessive, type ib|C0010495 hypocalciuric hypercalcemia, type i|C3875492 mirror-image polydactyly|C1851100 wood neuroimmunologic syndrome |C0039082 cutis laxa, autosomal recessive, type ia|C0010495 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly|C0221357 glioblastoma, somatic|C0017636 dystonia-17, primary torsion |C1265748 hypogonadotropic hypogonadism 4 with or without anosmia|C0003126 chromosome 17q21.31 duplication syndrome |C3150787 myotonia congenita, atypical, acetazolamide-responsive|C0741302 myopia 13 |C1845096 diabetes mellitus, permanent neonatal, with cerebellar agenesis|C4022808 periventricular nodular heterotopia 6|C3809872 dent disease|C0878681 menkes disease|C0022716 nystagmus 1, congenital, x-linked|C0028738 deafness, autosomal dominant 30 |C3842588 lymphangioleiomyomatosis|C0751674 short syndrome|C0878684 friedreich ataxia with retained reflexes|C0596002 venous thrombosis, protection against|C1545588 diabetes, type 2|C0011849 macular dystrophy, patterned|C0339508 wilms tumor, type 1|C0027708 hypoglycemia of infancy, leucine-sensitive|C0020517 myopia 14 |C1853196 hiv/aids, susceptibility to|C0497169 klippel-feil syndrome 3, autosomal dominant|C0022738 hypospadias 3, autosomal |C1691215 myofibromatosis, infantile 2|C0206648 dentin dysplasia, type ii|C0011430 thyroid hormone resistance|C2940786 dementia, frontotemporal, with or without parkinsonism|C0242422 hodgkin disease susceptibility, pseudoautosomal |C0019829 arthrogryposis, distal, type 2b|C0003886 arthrogryposis, distal, type 2a|C0003886 kuru, susceptibility to|C0022802 omphalocele due to duplication of 1p31.3 |C1705960 deafness, autosomal recessive 33 |C0011053 autoimmune disease, susceptibility to, 5 |C0004364 3-beta-hydroxysteroid dehydrogenase, type ii, deficiency|C0162429 limb-mammary syndrome|C1863753 leigh syndrome, x-linked|C0023264 myopia 15 |C2675180 spondylometaphyseal dysplasia, kozlowski type|C0700635 pancreatic cancer|C0346647 keratosis, seborrheic, somatic|C0022593 choroideremia, deafness, and mental retardation |C0025362 corneal dystrophy, lattice type i|C0010036 porphyria variegata, susceptibility to|C0162532 hmg-coa synthase-2 deficiency|C0162429 pseudohypoaldosteronism type i, autosomal dominant|C0268436 systemic lupus erythematosus with hemolytic anemia |C0002878 cole disease|C3809781 arthrogryposis, distal, type 5d|C0003886 silver spastic paraplegia syndrome|C2931276 deafness, autosomal recessive 32 |C0011053 hyperbilirubinemia, familial transcient neonatal|C0020433 scapuloperoneal spinal muscular atrophy|C0751335 myopia 16 |C2675523 dystonia-1, modifier of |C0013421 lchad deficiency|C1969443 stargardt disease 4 |C1863534 atrial septal defect 2|C1842778 choroid plexus papilloma|C0205770 preauricular fistulae, congenital |C0546969 atrial septal defect 9|C3280943 diabetes, permanent neonatal|C0011847 graves disease, susceptibility to, x-linked |C0018213 symphalangism, proximal, 1b|C0039075 deafness, autosomal dominant 31 |C0011053 atrial septal defect 8|C3280790 atrial septal defect 5|C2748552 lipoma |C0023798 atrial septal defect 6|C2751315 ataxia, posterior column, with retinitis pigmentosa|C0035334 atrial septal defect 3|C3279790 atrial septal defect 4|C1969657 ck syndrome|C3151781 gonadal dysgenesis, xy female type |C0432470 leukemia, acute promyelocytic, npm/rara type |C0023418 optic atrophy 1|C0338508 chromosome 17q12 duplication syndrome |C3281137 mental retardation, x-linked syndromic, fried type|C0039082 rhabdoid tumor predisposition syndrome 2|C2750074 central core disease|C0751951 dyskeratosis congenita, autosomal recessive 1|C0265965 dyskeratosis congenita, autosomal recessive 2|C0265965 microcephaly 11, primary, autosomal recessive|C0025958 thalassemia, delta- |C0039730 dyskeratosis congenita, autosomal recessive 5|C0265965 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant|C0020620 ehlers-danlos syndrome, progeroid type, 1|C3816745 pigmented paravenous chorioretinal atrophy|C1868310 ehlers-danlos syndrome, progeroid type, 2|C3833492 hay-wells syndrome|C0406709 dyskeratosis congenita, autosomal recessive 3|C0265965 infantile liver failure syndrome 2|C3809651 de sanctis-cacchione syndrome|C0265201 dyskeratosis congenita, autosomal recessive 4|C0265965 gm2-gangliosidosis, several forms|C0268274 pancreatic cancer, somatic|C0346647 basal cell carcinoma, susceptibility to, 5 |C0007117 chromosome 11p15-p14 deletion syndrome |C0039082 chronic granulomatous disease, autosomal, due to deficiency of cyba|C0162429 myopia 10 |C1836503 immunodeficiency, isolated|C0021051 immunoglobulin a deficiency 2|C1836032 ectodermal dysplasia 7, hair/nail type |C0013575 codeine sensitivity|C0020517 restless legs syndrome 1 |C3888109 maturity-onset diabetes of the young, type vii|C0011860 melanoma, malignant, somatic |C0025202 placental abruption |C0000832 watson syndrome|C0553586 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome|C0039082 basal cell carcinoma, susceptibility to, 6 |C0007117 failure of tooth eruption, primary|C0040437 retinal degeneration, autosomal recessive, clumped pigment type |C0035304 miller-dieker lissencephaly syndrome |C0265219 leukemia, acute lymphoblastic, somatic|C0023418 malaria, cerebral, reduced risk of|C0024530 glaucoma 1b, primary open angle, adult onset, |C1853562 thyroid adenoma, hyperfunctioning, somatic |C0679220 bainbridge-ropers syndrome|C3809650 brachydactyly, type e|C0221357 chromosome 5q14.3 deletion syndrome|C3888340 myopia 11 |C1864941 brachydactyly, type d|C0221357 hernia, congenital diaphragmatic 2 |C0019270 brachydactyly, type c|C0221357 dysprothrombinemia|C0272317 lumbar disc degeneration|C0263874 restless legs syndrome 2 |C2931830 corneal dystrophy polymorphous posterior, 2|C0010036 bazex syndrome |C0346104 basal cell carcinoma, susceptibility to, 3 |C3838680 stature qtl 11 |C0424639 capillary malformations, congenital, 1, somatic, mosaic|C3816745 17,20-lyase deficiency, isolated|C1291557 adrenal adenoma, somatic |C0206667 nephropathy with pretibial epidermolysis bullosa and deafness|C0011053 polymicrogyria, symmetric or asymmetric|C0332516 malaria, severe, susceptibility to|C0024530 spondylometaepiphyseal dysplasia, short limb-hand type|C0239399 aortic aneurysm, familial thoracic 7|C0003486 aortic aneurysm, familial thoracic 6|C0003486 myopia 12 |C1864940 alzheimer disease, type 3|C1521724 cytochrome c oxidase deficiency|C0268237 3-hydroxyacyl-coa dehydrogenase deficiency|C1291230 aortic aneurysm, familial thoracic 4|C0003486 plasmodium falciparum fever episodes qtl1 |C0015967 mucopolysaccharidosis type iiib (sanfilippo b)|C0086648 rhabdomyosarcoma, embryonal, 2|C3833492 aortic aneurysm, familial thoracic 8|C0003486 restless legs syndrome 3 |C0035258 exostoses, multiple, type 2|C1442903 neurofibrosarcoma |C0751690 exostoses, multiple, type 1|C1442903 diabetes mellitus, noninsulin-dependent, 2|C3833492 basal cell carcinoma, susceptibility to, 4 |C0007117 trichothiodystrophy, complementation group a|C1955934 stature qtl 10 |C3842590 nemaline myopathy 5, amish type|C1854380 stuttering, familial persistent|C0038506 primary lateral sclerosis, adult|C0154682 deafness, autosomal dominant 27 |C0011053 microphthalmia, isolated, with coloboma 9|C0009363 spondyloepimetaphyseal dysplasia with joint laxity, type 2|C0086437 meningioma, familial, susceptibility to|C1762616 mental retardation, x-linked, syndromic, claes-jensen type|C0039082 lymphoma, b-cell |C0024299 microphthalmia, isolated, with coloboma 8|C0009363 microphthalmia, isolated, with coloboma 7|C0009363 chromosome xq27.3-q28 duplication syndrome |C3275521 peroxisome biogenesis disorder 10a (zellweger)|C0282528 telangiectasia, hereditary benign |C1963248 restless legs syndrome 4 |C0035258 mucopolysaccharidosis type iiic (sanfilippo c)|C0086649 autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia|C0265294 neuropathy, hereditary motor and sensory, russe type|C0442874 stature qtl 13 |C0424639 basal cell carcinoma, susceptibility to, 1 |C3816745 mycobacterium tuberculosis, protection against|C1545588 fragile x tremor/ataxia syndrome|C1839780 cpt ii deficiency, lethal neonatal|C3151529 epileptic encephalopathy, early infantile, 18|C0543888 acatalasemia|C0268419 epileptic encephalopathy, early infantile, 15|C0543888 anemia, neonatal hemolytic, fatal and near-fatal |C0475806 epileptic encephalopathy, early infantile, 14|C0543888 lupus nephritis, susceptibility to |C0024143 epileptic encephalopathy, early infantile, 17|C0543888 epileptic encephalopathy, early infantile, 16|C0543888 hemolytic anemia due to glutathione synthetase deficiency|C0398746 lysyl hydroxylase 3 deficiency|C2676285 epileptic encephalopathy, early infantile, 11|C0543888 epileptic encephalopathy, early infantile, 10|C3842590 epileptic encephalopathy, early infantile, 13|C0543888 alpha-2-plasmin inhibitor deficiency|C2752081 colchicine resistance|C1861502 diphtheria, susceptibility to |C0012546 epileptic encephalopathy, early infantile, 12|C0543888 total anomalous pulmonary venous return |C0036400 atelosteogenesis, type iii|C0265283 alpha-actinin-3 deficiency |C0162429 mental retardation, autosomal recessive 10/20 |C3842589 cholestasis-lymphedema syndrome |C0268314 episodic muscle weakness, x-linked |C3806048 iminoglycinuria, digenic|C0268654 hyperparathyroidism, neonatal|C0020502 muscular dystrophy, limb-girdle, type 1f |C0026850 restless legs syndrome 5 |C0035258 retinitis pigmentosa 7, digenic|C1842475 stature qtl 12 |C0424639 basal cell carcinoma, susceptibility to, 2 |C3833492 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant|C1864923 split-hand/foot malformation 6|C2749665 split-hand/foot malformation 4|C1854442 adenocarcinoma, colonic, somatic |C0001418 floating-harbor syndrome|C0729582 alzheimer disease 18, susceptibility to|C3810041 chordoma, susceptibility to |C0008487 facial clefting, oblique, 1|C3816745 fascioscapulohumeral muscular dystrophy 2, digenic|C0238288 alzheimer disease, type 3, with spastic paraparesis and apraxia|C0003635 microcephaly, epilepsy, and diabetes syndrome|C0039082 restless legs syndrome 6 |C0035258 smith-mccort dysplasia 2|C3714896 thrombocytopenia, congenital amegakaryocytic|C0040034 thrombophilia, familial, due to decreased release of plat|C0398623 stature qtl 15 |C0424639 mungan syndrome |C1969653 erythrocytosis, familial, 1|C3816745 adenoma, periampullary, somatic |C0001430 tsc2 angiomyolipomas, renal, modifier of|C0206633 erythrocytosis, familial, 4|C1527405 erythrocytosis, familial, 2|C3833492 microcephaly 4, primary, autosomal recessive|C0025958 neurodegeneration due to cerebral folate transport deficiency|C2751584 coronary heart disease, susceptibility to |C0010068 erythrocytosis, familial, 3|C3838680 leukoencephalopathy, diffuse hereditary, with spheroids|C1844596 chondrodysplasia punctata, rhizomelic, type 2|C1866730 mental retardation, x-linked 14 |C0025362 craniosynostosis, type 1|C0010278 myopia 22, autosomal dominant|C0027092 muscular dystrophy, limb-girdle, type 1h |C0026850 restless legs syndrome 7 |C0035258 weyers acrodental dysostosis|C0457013 hypogonadotropic hypogonadism 15 with or without anosmia|C0003126 kyphoscoliosis 1 |C1857795 sed congenita|C2745959 microvillus inclusion disease|C0341306 malaria, resistance to|C0024530 craniosynostosis, type 2|C0010278 spastic paraplegia 28, autosomal recessive|C0037772 stature qtl 14 |C0424639 hyperphenylalaninemia, non-pku mild|C0751434 microphthalmia, syndromic 13 |C0039082 ewing sarcoma|C0553580 glucocorticoid deficiency 4|C3553587 neuroblastoma|C0027819 glucocorticoid deficiency 2|C1846284 norrie disease|C0266526 cholestasis, benign recurrent intrahepatic|C0008370 anal canal carcinoma |C0563211 stature qtl 17 |C0424639 hypercholesterolemia, familial, autosomal recessive|C1522133 night blindness, congenital stationary (complete), 1a, x-linked|C3839460 systemic lupus erythematosus, susceptibility to or protection against|C1545588 major depressive disorder and accelerated response to antidepressant drug treatment|C1704632 myasthenia, limb-girdle, familial|C0947912 hypertension, salt-sensitive essential, susceptibility to|C0020517 microcephaly 9, primary, autosomal recessive|C0025958 pitt-hopkins like syndrome 1|C0039082 ichthyosis with confetti|C0020757 spastic paraplegia 48, autosomal recessive|C4017324 acyl-coa dehydrogenase, short-chain, deficiency of|C0162429 schizoaffective disorder, susceptibility to|C0036337 borjeson-forssman-lehmann syndrome|C0265339 mental retardation, x-linked syndromic, turner type|C0039082 macular degeneration, x-linked atrophic|C0333641 chromosome 10q26 deletion syndrome |C2674937 heterotopia, periventricular, ed variant|C0008519 dystonia 13, torsion |C1265748 endometrial cancer|C1883486 fazio-londe disease|C0015708 systemic lupus erythematosus, resistance to|C0024141 uv-sensitive syndrome 3|C3553328 uv-sensitive syndrome 2|C3553298 prion disease with protracted course|C0162534 uv-sensitive syndrome 1|C3551173 tropical calcific pancreatitis|C1842402 charcot-marie-tooth disease, recessive intermediate, a|C0007959 charcot-marie-tooth disease, recessive intermediate, b|C0007959 preeclampsia/eclampsia 3 |C1836256 stature qtl 16 |C0424639 obesity, severe|C0028754 breast cancer, male, susceptibility to|C0006142 urbach-wiethe disease|C0023795 cerebellar ataxia|C0007758 melanoma and neural system tumor syndrome|C0039082 obsessive-compulsive disorder|C0600104 prostate cancer, hereditary, 12|C0376358 prostate cancer, hereditary, 13|C0376358 chromosome 17q23.1-q23.2 duplication syndrome |C3150880 craniofacial-skeletal-dermatologic dysplasia|C0220658 metaphyseal dysplasia without hypotrichosis|C0020678 macrocephaly/autism syndrome|C1854416 macular degeneration, age-related|C0445223 porphyria, congenital erythropoietic|C0032708 gaucher disease, type ii|C0017205 stature qtl 19 |C0424639 sclerosteosis 2|C3280402 46xx sex reversal 2 |C4022995 specific granule deficiency|C0398593 vacterl association|C1735591 welander distal myopathy|C0221054 preeclampsia/eclampsia 2 |C1836257 pulmonary fibrosis, telomere-related, 1|C0445223 thrombocythemia, x-linked |C0836924 long qt syndrome 1, acquired, susceptibility to|C0035828 pontocerebellar hypoplasia type 4|C1856974 deafness and myopia|C0027092 melnick-needles syndrome|C0025237 epidermal nevus, somatic|C0334082 myopathy, lactic acidosis, and sideroblastic anemia 2|C0002896 myeloproliferative disorder with eosinophilia|C1306759 stature qtl 18 |C0424639 limb-girdle muscular dystrophy, type 1g |C0686353 attention deficit-hyperactivity disorder|C1263846 miyoshi muscular dystrophy 2 |C2750077 myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency|C0162429 von hippel-lindau syndrome|C0019562 prostate cancer, somatic|C0376358 preeclampsia/eclampsia 1 |C0032914 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy|C0270612 juvenile polyposis syndrome, infantile form|C0345893 hiv-1 disease, delayed progression of |C0242656 desmoid disease, hereditary|C0012634 myopathy, congenital, with fiber-type disproportion|C0546264 striatonigral degeneration, infantile|C0270733 myopathy, congenital, with fiber-type disproportion, x-linked |C0546264 osteolysis, familial expansile|C0221204 cold-induced sweating syndrome|C1832409 pseudoxanthoma elasticum|C0473583 atrial fibrillation, familial|C0004238 corneal dystrophy, schnyder type|C0010036 platelet disorder, familial, with associated myeloid malignancy|C2939461 bornholm eye disease |C3159311 fibromatosis, gingival|C0016048 optic atrophy-7|C2751812 basal ganglia calcification, idiopathic, 4|C1389280 kahrizi syndrome|C2675185 osseous heteroplasia, progressive|C1261978 basal ganglia calcification, idiopathic, 5|C1389280 canavan disease|C0206307 ectodermal dysplasia-syndactyly syndrome 1|C3150807 adult i phenotype without cataract|C0086543 cherubism|C0008029 hypertension, essential, susceptibility to|C1963138 uv-induced skin damage|C0849640 aarskog-scott syndrome|C0175701 hernia, congenital diaphragmatic 1 |C0019270 peroxisome biogenesis disorder 6a (zellweger)|C0282528 proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome|C0039082 46xx sex reversal 3 |C4022995 hypomyelination, global cerebral|C0544820 prostate cancer, hereditary, 9 |C0376358 skin/hair/eye pigmentation 11, blue/nonblue eyes |C0578626 spastic paraplegia 26, autosomal recessive |C0037772 alzheimer disease 6|C1854187 immunodeficiency due to purine nucleoside phosphorylase deficiency|C0268125 wiskott-aldrich syndrome|C0043194 gyrate atrophy of choroid and retina with or without ornithinemia|C0599035 pilomatricoma, somatic|C0206711 alzheimer disease 8|C1846735 cataract 15, multiple types|C0086543 ectopia lentis, isolated, autosomal recessive|C0013581 muscular dystrophy, congenital, 1b |C0026850 carnitine-acylcarnitine translocase deficiency|C0342791 hypochondroplasia|C0410529 conjunctivitis, ligneous|C0009763 stroke, susceptibility to, 1|C3816745 cardiac arrhythmia, ankyrin-b-related|C0445223 ataxia-telangiectasia|C0004135 analbuminemia |C0878666 factor xii deficiency|C0015526 hypobetalipoproteinemia, familial, 2|C3833492 prostate cancer, hereditary, 7 |C0376358 myelodysplastic syndrome, preleukemic |C3463824 craniosynostosis 4|C3806917 mycobacterial infection, atypical, familial disseminated|C0741302 osteogenesis imperfecta, type xii|C0029434 brown-vialetto-van laere syndrome 1|C0796274 craniosynostosis 3|C3715051 brown-vialetto-van laere syndrome 2|C3553538 dementia, lewy body|C0011265 hepatocellular carcinoma, childhood type|C2239176 immunodeficiency 19|C3810147 osteogenesis imperfecta, type xiv|C0029434 king-denborough syndrome|C1840365 immunodeficiency 18|C3810127 hiv infection, susceptibility/resistance to |C0019693 pycnodysostosis|C0238402 immunodeficiency 11|C3554686 hypouricemia, renal, 2|C3833492 immunodeficiency 12|C3809583 dementia, familial, nonspecific|C0011265 immunodeficiency 10|C2748557 immunodeficiency 15|C3810043 rheumatoid arthritis, susceptibility to|C0003873 immunodeficiency 16|C3810053 immunodeficiency 13|C3809768 endometrial carcinoma, somatic|C0476089 cleidocranial dysplasia, forme fruste, with brachydactyly|C0221357 pyruvate dehydrogenase phosphatase deficiency|C1837429 ichthyosis, spastic quadriplegia, and mental retardation|C0025362 mass syndrome|C1858556 medulloblastoma, desmoplastic|C1511789 alopecia areata 2 |C1853104 parastremmatic dwarfism|C1868616 deafness, autosomal recessive 4, with enlarged vestibular aqueduct|C1863752 hemolytic anemia due to glutathione reductase deficiency |C0162429 myopathy, centronuclear, 4|C0026848 diabetes mellitus, noninsulin-dependent, susceptibility to|C0011849 myopathy, centronuclear, 3|C3838680 whim syndrome|C0472817 combined immunodeficiency, x-linked, moderate|C0494261 townes-brocks branchiootorenal-like syndrome|C0039082 atopy|C0392707 thrombocytopenia, neonatal alloimmune |C0040034 amelogenesis imperfecta, hypoplastic/hypomaturation type 1e|C0002452 maturity-onset diabetes of the young, type viii|C0011860 alport syndrome, autosomal dominant|C1567741 epidermolysis bullosa, generalized atrophic benign|C0333641 gastrointestinal stromal tumor|C0238198 inclusion body myopathy-3|C2931820 smith-lemli-opitz syndrome|C0175694 epilepsy, idiopathic generalized, susceptibility to|C0014544 scoliosis, idiopathic 3|C0700208 alopecia areata 1 |C1863094 holocarboxylase synthetase deficiency|C0268581 bothnia retinal dystrophy|C1843816 myelofibrosis, somatic|C0001815 atelosteogenesis, type i|C0265283 cowchock syndrome |C0795910 dystonia, juvenile-onset|C0013421 dilated cardiomyopathy with woolly hair and keratoderma|C0022579 muscular dystrophy, congenital merosin-deficient|C0026850 polycystic liver disease|C0158683 arthrogryposis, mental retardation, and seizures|C0036572 brachyolmia type 3|C0432227 mental retardation, x-linked syndromic, abidi type |C0039082 obesity, susceptibility to, bmiq10 |C2675659 wilson disease|C0019202 hepatic lipase deficiency|C3151466 inflammatory bowel disease 21 |C2676507 myelogenous leukemia, acute |C0023470 attention deficit-hyperactivity disorder, susceptibility to, 7|C1263846 porphyria, acute intermittent, nonerythroid variant|C0032708 carpenter syndrome 2|C3554247 sveinsson choreoretinal atrophy|C4016395 myopia-6 |C1837148 myelodysplasia syndrome-1 |C3463824 obesity, early-onset, susceptibility to|C1833334 macrocytic anemia, refractory, due to 5q deletion, somatic|C1521461 glyoxalase ii deficiency|C3279657 thyroid carcinoma, hurthle cell|C0549473 renal adysplasia|C1619700 triphalangeal thumb-polysyndactyly syndrome|C1868114 inflammatory bowel disease 20 |C2676781 keratoderma, palmoplantar, punctate type ia|C0022579 methylmalonic aciduria and homocystinuria, cblc type|C0019880 pseudohypoparathyroidism ia|C0033806 turner syndrome-associated neurocognitive phenotype |C0041408 pseudohypoparathyroidism ib|C0033806 pseudohypoparathyroidism ic|C0033806 spastic ataxia 3, autosomal recessive|C1849156 mental retardation syndrome, x-linked, armfield type |C0039082 myocardial infarction, susceptibility to |C0027051 gallbladder disease 1|C2609268 combined cellular and humoral immune defects with granulomas|C0018188 cone-rod retinal dystrophy-2|C0339530 stevens-johnson syndrome, susceptibility to|C0038325 joubert syndrome-3|C1837713 hangover, susceptibility to|C0221100 opitz-kaveggia syndrome|C0220769 premature ovarian failure|C0025322 gallbladder disease 4|C1969115 toenail dystrophy, isolated|C0333606 infantile cerebellar-retinal degeneration|C3281192 febrile seizures, familial, 11|C0009952 hyperkalemic periodic paralysis, type 2|C0238357 migraine, susceptibility to, 8 |C0149931 short-rib thoracic dysplasia 4 with or without polydactyly|C0152427 efavirenz central nervous system toxicity, susceptibility to|C0600688 ciliary dyskinesia, primary, 7, with or without situs inversus|C0037221 cerebrotendinous xanthomatosis|C0238052 igg2 deficiency, selective |C0398701 inflammatory bowel disease 23 |C2676484 insulin resistance, susceptibility to|C0021655 3-methylglutaconic aciduria, type iii|C3696376 ceroid lipofuscinosis, neuronal, 12|C0027877 ceroid lipofuscinosis, neuronal, 11|C0027877 ceroid lipofuscinosis, neuronal, 10|C0027877 hypophosphatemic rickets, autosomal dominant|C1704375 pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated|C1963220 neuropathy, distal hereditary motor, type viib|C0442874 cortisone reductase deficiency 1|C3551716 fibrosis of extraocular muscles, congenital, 1|C3816745 cortisone reductase deficiency 2|C3553382 deafness, digenic, gjb2/gjb3|C0011053 heterotopia, periventricular|C0008519 fibrosis of extraocular muscles, congenital, 2|C3833492 hiv-1 disease, rapid progression of |C1838681 encephalopathy, neonatal severe|C0006111 eosinophilia, familial |C1306759 potocki-shaffer syndrome |C1832588 may-hegglin anomaly|C0340978 sialuria|C1096903 schizophrenia susceptibility 18|C3808913 mental retardation, fra12a type|C0025362 spastic paraplegia 54, autosomal recessive|C0037772 muscular dystrophy with epidermolysis bullosa simplex|C0079298 bardet-biedl syndrome, modifier of|C0752166 inflammatory bowel disease 22 |C2676485 polycystic kidney disease 2|C2751306 cataract 38, autosomal recessive|C3553494 ventricular tachycardia, idiopathic|C0042514 epiphyseal dysplasia, multiple, with myopathy |C0026848 pten hamartoma tumor syndrome |C1959582 majeed syndrome|C1864997 corneal endothelial dystrophy 2, autosomal recessive|C1857569 keratolytic winter erythema |C0406756 apparent mineralocorticoid excess|C3887949 growth retardation, developmental delay, coarse facies, and early death|C1836407 pulmonary venoocclusive disease 1|C3806932 pulmonary venoocclusive disease 2|C4017188 multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects|C0018798 gigantism due to ghrf hypersecretion |C0017547 vici syndrome|C1855772 trichoepithelioma, multiple familial, 1|C0349658 paroxysmal nonkinesigenic dyskinesia|C1869117 chromosome 15q25 deletion syndrome |C3280355 spondylocarpotarsal synostosis syndrome|C1848934 transposition of the great arteries, dextro-looped 1|C3816745 transposition of the great arteries, dextro-looped 2|C3833492 bruck syndrome 1 |C1850168 lung cancer, protection against, in smokers |C0337664 multiple myeloma, susceptibility to|C0026764 hydrocephalus, nonsyndromic, autosomal recessive 2|C2677304 hereditary motor and sensory neuropathy, proximal type|C0027888 acad9 deficiency|C1970173 rabson-mendenhall syndrome|C0271695 cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d |C0686353 migraine, familial hemiplegic, 1, with progressive cerebellar ataxia|C0393525 hypercholesterolemia, susceptibility to|C0020443 skin/hair/eye pigmentation 5, dark/fair skin|C1849923 dysalbuminemic hyperzincemia|C0854520 hypotrichosis, hereditary, marie unna type, 1|C3816745 chromosome 19p13.13 deletion syndrome |C3150894 inflammatory bowel disease 24 |C2675509 tyrosinemia, type i|C1879362 c9 deficiency|C3151189 ciliary dyskinesia, primary|C0008780 congenital heart defects, multiple types|C0018798 myasthenia gravis with thymus hyperplasia |C0040115 deafness, autosomal recessive 27 |C0011053 leydig cell hypoplasia with hypergonadotropic hypogonadism|C0948896 asthma, aspirin-induced, susceptibility to|C0004096 pseudohypoaldosteronism, type iia |C0033805 congenital heart defects, nonsyndromic, 1, x-linked|C3816745 mowat-wilson syndrome|C1856113 spermatogenic failure 2 |C1862459 myopia-1 |C1839612 inflammatory bowel disease 27 |C2748550 migraine without aura, susceptibility to|C0236018 polymicrogyria, bilateral frontoparietal|C0266464 athabaskan brainstem dysgenesis syndrome|C1832215 amyotrophic lateral sclerosis and/or frontotemporal dementia|C0338451 cataract 31, multiple types|C0086543 spermatogenic failure, y-linked|C3553794 spondylocheirodysplasia, ehlers-danlos syndrome-like|C0013720 spermatogenic failure 11|C3554453 white sponge nevus|C1721005 spermatogenic failure 10|C3553793 spermatogenic failure 12|C3809427 antiphospholipid syndrome, familial |C0085278 aromatase deficiency|C1960539 fanconi anemia, complementation group c|C0015625 febrile seizures, familial, 3b|C0009952 febrile seizures, familial, 3a|C0009952 fanconi anemia, complementation group a|C0015625 fanconi anemia, complementation group b|C0015625 tuberculosis, protection against|C1545588 fanconi anemia, complementation group g|C0015625 fanconi anemia, complementation group e|C0015625 fanconi anemia, complementation group f|C0015625 nail-patella syndrome|C0027341 rajab syndrome |C3150910 epilepsy, familial adult myoclonic, 5|C0014544 hemolytic anemia due to glutathione peroxidase deficiency|C0398747 dengue fever, protection against|C1545588 agammaglobulinemia and isolated hormone deficiency|C0599750 chromosome 19p13.13 duplication syndrome |C3150895 conotruncal anomaly face syndrome|C0795907 fanconi anemia, complementation group q|C0015625 inflammatory bowel disease 26 |C2675249 mental retardation, x-linked 30/47|C3842588 testicular anomalies with or without congenital heart disease|C0152021 deafness, autosomal dominant 21 |C0011053 fanconi anemia, complementation group l|C0015625 restless legs syndrome, susceptibility to|C0035258 fanconi anemia, complementation group i|C0015625 fanconi anemia, complementation group j|C0015625 orolaryngeal cancer, multiple, |C1306459 porphyria cutanea tarda|C0162566 fanconi anemia, complementation group o|C0015625 fanconi anemia, complementation group p|C0015625 major depressive disorder, response to citalopram therapy in|C1704632 beta-2-adrenoreceptor agonist, reduced response to |C1704632 fanconi anemia, complementation group m|C0015625 multiple fibroadenomas of the breast|C0206650 fanconi anemia, complementation group n|C0015625 febrile seizures, familial|C0009952 brugada syndrome 6|C2751089 celiac disease, susceptibility to, 10 |C0007570 brugada syndrome 5|C2748541 brugada syndrome 4|C2678477 brugada syndrome 3|C2678478 proud syndrome|C0796124 brachydactyly, type e2|C0221357 brugada syndrome 8|C2751083 deafness, neurosensory, without vestibular involvement, autosomal dominant |C0011053 brugada syndrome 7|C2751088 keratoderma, palmoplantar, punctate type ib |C0022579 retinitis pigmentosa 22 |C3887981 brugada syndrome 2|C2673193 brugada syndrome 1|C1142166 exudative vitreoretinopathy|C4072980 lipodystrophy, partial, acquired, susceptibility to|C0023787 neuropathy, hereditary sensory and autonomic, type vii|C0442874 nail disorder, nonsyndromic congenital|C2677304 alzheimer disease-2|C1863051 dent disease 2|C1845167 dystonia-15, myoclonic |C0013421 pontocerebellar hypoplasia, type 1b|C1261175 mitochondrial dna depletion syndrome 4a (alpers type)|C0039082 prostate cancer, hereditary, x-linked 1 |C0376358 chromosome 9p deletion syndrome |C0795830 deafness, autosomal dominant 24 |C0011053 digital arthropathy-brachydactyly, familial|C0221357 celiac disease, susceptibility to, 11 |C0007570 deafness, autosomal recessive 26 |C0011053 neuropathy, congenital hypomyelinating, 1|C0442874 spastic paraplegia 11, autosomal recessive|C0037772 cataract 35, congenital nuclear |C1836272 glycosylphosphatidylinositol deficiency|C1853205 inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3|C0236642 pontocerebellar hypoplasia, type 3 |C1261175 brody myopathy|C1832918 cataract 10, multiple types|C3842590 chromosome 17p13.3 duplication syndrome |C2750748 fanconi renotubular syndrome 1 |C0341703 glaucoma 1c, primary open angle |C0429524 myopathy, actin, congenital, with cores|C0026848 hydrocephalus with hirschsprung disease|C0019569 nephronophthisis 1, juvenile|C1855681 werner syndrome|C0043119 craniofrontonasal dysplasia|C0220767 diabetes mellitus, insulin-dependent, 11 |C0011849 prieto syndrome |C1839730 sars infection, protection against |C1545588 biotinidase deficiency|C0220754 prostate cancer, hereditary, x-linked 2 |C0376358 celiac disease, susceptibility to, 12 |C0007570 crigler-najjar syndrome, type ii|C0010324 osteosclerosis|C0029464 carotid intimal medial thickness 1|C1836302 t-cell acute lymphoblastic leukemia|C1961099 spinal muscular atrophy, distal, congenital nonprogressive|C3839460 persistent mullerian duct syndrome, type i|C1849930 retinitis pigmentosa 24 |C3887982 skin/hair/eye pigmentation 1, blond/brown hair|C0574766 elliptocytosis-1|C2678497 elliptocytosis-2|C1851741 purpura, posttransfusion |C0034150 beare-stevenson cutis gyrata syndrome|C1852406 wolman disease|C0043208 cataract, pulverulent or cerulean, with or without microcornea|C0266544 multiple myeloma|C0026764 acne inversa, familial, 3|C3838680 acne inversa, familial, 2|C3833492 celiac disease, susceptibility to, 13 |C0007570 night blindness, congenital stationary (complete), 1e, autosomal recessive|C3839460 acne inversa, familial, 1|C3816745 anemia, sideroblastic, x-linked|C0002871 corneal dystrophy, endothelial, x-linked |C0010036 alzheimer disease-4|C1847200 telangiectasia, hereditary hemorrhagic, type 5|C0039446 alzheimer disease-5|C1865868 acetyl-coa carboxylase deficiency|C0268603 retinitis pigmentosa 23 |C1419610 telangiectasia, hereditary hemorrhagic, type 2|C0039446 telangiectasia, hereditary hemorrhagic, type 1|C0039446 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2|C0268237 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1|C0268237 rhabdomyolysis, cerivastatin-induced |C0035410 factor v and factor viii, combined deficiency of|C0162429 cr1 deficiency |C0162429 cataract 1, multiple types|C0086543 encephalopathy, acute, infection-induced, susceptibility to, 6|C0858744 thyroid carcinoma, papillary, with papillary renal neoplasia |C0022665 brachydactyly, type a1|C0221357 brachydactyly, type a2|C0221357 candidiasis, familial, 2, autosomal recessive|C3833492 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis|C1863351 dopamine beta-hydroxylase deficiency|C0342687 myopia-3 |C1864111 rhabdomyosarcoma, somatic|C0035412 cholestasis, progressive canalicular |C0008370 adenine phosphoribosyltransferase deficiency|C0268120 abacavir hypersensitivity, susceptibility to |C0020517 corneal dystrophy, posterior polymorphous, 3|C0010036 deafness, autosomal recessive 20 |C3842589 brachydactyly, type b1|C1516061 brachydactyly, type b2|C3810839 rienhoff syndrome|C3810012 cavernous malformations of cns and retina|C0000768 mevalonic aciduria|C1959626 multisystemic smooth muscle dysfunction syndrome|C3151201 huriez syndrome |C0406767 myopia-2 |C1834531 thalassemia, alpha-|C0039730 corneal dystrophy, fuchs endothelial, 1|C0010036 macrocephaly, alopecia, cutis laxa, and scoliosis|C0700208 mental retardation syndrome, x-linked, siderius type|C0039082 prostate cancer|C0376358 corneal dystrophy, fuchs endothelial, 4|C0010036 asparagine synthetase deficiency|C3809971 corneal dystrophy, fuchs endothelial, 8|C0010036 sarcoidosis, susceptibility to, 3 |C3838680 corneal dystrophy, fuchs endothelial, 6|C0010036 hemolytic anemia due to triosephosphate isomerase deficiency|C1860808 digeorge syndrome|C0012236 malaria, vivax, protection against|C1545588 platelet plc beta-2 deficiency |C0162429 tooth agenesis, selective, 6|C4024202 autoimmune thyroid disease, susceptibility to, 3|C3838680 leigh syndrome due to mitochondrial complex i deficiency|C1838979 obesity, hyperphagia, and developmental delay|C0557874 spastic paraplegia 39, autosomal recessive|C0037772 tooth agenesis, selective, 3|C3838680 tooth agenesis, selective, 4|C4024202 neurofibromatosis-noonan syndrome|C2931482 diabetes mellitus, insulin-dependent, 19 |C0011849 night blindness, congenital stationary, autosomal dominant 3|C3839460 allergic rhinitis, susceptibility to|C2607914 night blindness, congenital stationary, autosomal dominant 1|C3839460 night blindness, congenital stationary, autosomal dominant 2|C3839460 stature qtl 21 |C0424639 andersen syndrome|C1563715 eiken syndrome|C1838779 mental retardation, x-linked 29 |C3843708 deafness, autosomal dominant 18 |C0011053 spinal muscular atrophy, jokela type |C0026847 episodic kinesigenic dyskinesia 1|C1868682 globozoospermia|C0403825 hydrolethalus syndrome|C2931104 isobutyryl-coa dehydrogenase deficiency|C1969809 mental health wellness-2 |C1863620 incontinentia pigmenti, type ii|C2930820 diabetes mellitus, insulin-dependent, 18 |C0011849 lumbar disc herniation, susceptibility to|C0281899 muscular dystrophy with rimmed vacuoles |C1853932 peroxisome biogenesis disorder 7a (zellweger)|C0282528 stature qtl 20 |C3842589 mitochondrial dna depletion syndrome 2 (myopathic type)|C0039082 muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4|C0025362 invasive pneumococcal disease, recurrent isolated, 2|C1320214 invasive pneumococcal disease, recurrent isolated, 1|C1320214 pemphigoid, susceptibility to |C0030805 pyruvate kinase deficiency|C0340968 dyslexia, susceptibility to, 9 |C0476254 netherton syndrome|C0265962 diastrophic dysplasia|C0220726 hypervalinemia or hyperleucine-isoleucinemia |C0268574 transaldolase deficiency|C1291329 choroideremia|C0008525 nemaline myopathy 3, autosomal dominant or recessive|C1834336 acromesomelic dysplasia, maroteaux type|C2930970 placental lactogen deficiency |C0162429 stature qtl 23 |C0424639 candidiasis, familial, 7|C0006840 dyslexia, susceptibility to, 8 |C0476254 neutral lipid storage disease with myopathy|C0026848 allan-herndon-dudley syndrome|C0795889 candidiasis, familial, 8|C0006840 angelman syndrome|C0162635 ataxia-telangiectasia-like disorder|C0012634 marshall syndrome|C0265235 rheumatoid arthritis, systemic juvenile, susceptibility to|C0003873 allergy and asthma susceptibility |C0004096 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly|C1851100 aniridia|C0003076 craniometaphyseal dysplasia, autosomal recessive |C0265292 hypomagnesemia-2, renal|C0151723 amyotrophy, hereditary neuralgic|C0027796 cataract 3, multiple types|C0086543 retinitis pigmentosa 29 |C2677325 complement factor d deficiency|C0398764 dysfibrinogenemia, alpha type, causing bleeding diathesis |C0005779 pyruvate dehydrogenase e1-alpha deficiency|C1839413 malignant hyperthermia susceptibility 3 |C0024591 ehlers-danlos syndrome, musculocontractural type 2|C0013720 parkinson disease, susceptibility to|C0030567 sialic acid storage disorder, infantile|C1096903 ehlers-danlos syndrome, musculocontractural type 1|C0013720 stature qtl 22 |C0424639 albinism, oculocutaneous, type vii|C0001916 fanconi-bickel syndrome|C3495427 precocious puberty, central, 2|C3833492 dyslexia, susceptibility to, 6 |C0476254 fg syndrome 3 |C1845567 precocious puberty, central, 1|C3816745 chromosome 3q29 microduplication syndrome |C0039082 cenani-lenz syndactyly syndrome|C1859309 diabetes mellitus, insulin-dependent, 15 |C0011849 glioma susceptibility 4 |C2750944 malaria, intensity of infection |C0009450 atelosteogenesis ii|C0265283 tolbutamide poor metabolizer |C4016718 epilepsy, hot water|C0014544 huntington disease-like 3 |C3838680 angioedema, hereditary, type iii|C0002994 atrial fibrillation, familial, 5 |C0004238 hemifacial microsomia |C0220681 adrenal cortical carcinoma|C0206686 congenital bilateral absence of vas deferens|C0332910 usher syndrome, type 1e |C0271097 vesicoureteral reflux |C0042580 dyslexia, susceptibility to, 5 |C0476254 esophageal squamous cell carcinoma|C0279626 nanophthalmos 3 |C2678467 microcephalic osteodysplastic primordial dwarfism, type ii|C0432244 deafness, autosomal recessive 18b|C0011053 timothy syndrome|C1832916 deafness, autosomal recessive 18a|C0011053 dystonia 6, torsion|C1265748 bone size quantitative trait locus 3 |C1857711 vascular disease, susceptibility to |C0042373 histiocytosis-lymphadenopathy plus syndrome|C1864445 thrombophilia, dysfibrinogenemic |C0398623 diabetes mellitus, insulin-dependent, 13 |C0011849 endotoxin hyporesponsiveness |C1864267 glioma susceptibility 5 |C2751640 carasil syndrome|C1838577 diaphanospondylodysostosis|C1842691 night blindness, congenital stationary (complete), 1b, autosomal recessive|C3839460 macrothrombocytopenia |C2751260 mehmo syndrome |C1846278 amyotrophic lateral sclerosis 14, with or without frontotemporal dementia|C0338451 stature qtl 24 |C0424639 fg syndrome 5 |C1845119 maturity-onset diabetes of the young, type ix|C0011860 thrombophilia due to protein s deficiency, autosomal dominant|C0242666 hyperinsulinism-hyperammonemia syndrome|C1847555 syndactyly, type 1 |C0039075 syndactyly, type iii|C0039075 mycobacterium tuberculosis, susceptibility to infection by|C0009450 deafness, autosomal recessive 17 |C0011053 diabetes mellitus, insulin-dependent, 17 |C0011849 heterotaxy, visceral, 6, autosomal recessive|C0266642 mental health wellness-1 |C1863621 ectodermal dysplasia 5, hair/nail type |C0013575 hyaline fibromatosis syndrome|C2745948 spermatocytic seminoma, somatic|C0334517 hirschsprung disease, cardiac defects, and autonomic dysfunction|C1145628 sezary syndrome, somatic, |C0036920 fetal hemoglobin quantitative trait locus 1|C1841621 goldberg-shprintzen megacolon syndrome|C1836123 osteoarthritis-5|C0029408 inflammatory bowel disease 25, early onset, autosomal recessive|C1833334 nonsmall cell lung cancer, response to tyrosine kinase inhibitor in|C1704632 deafness, autosomal dominant 16 |C0011053 polyposis syndrome, hereditary mixed, 2|C3160715 dyslexia, susceptibility to, 3 |C3838680 retinal cone dystrophy-1 |C1867326 atrioventricular septal defect, susceptibility to, 1 |C3816745 joubert syndrome 1|C0431399 major affective disorder-7, susceptibility to|C2700438 silver-russell syndrome|C0175693 glucocorticoid deficiency, due to acth unresponsiveness|C0241526 bardet-biedl syndrome 14, modifier of|C2673874 joubert syndrome 2|C1842577 epilepsy, juvenile absence, susceptibility to, 1|C3816745 lactate dehydrogenase-b deficiency|C3279904 campomelic dysplasia with autosomal sex reversal|C4022995 ichthyosis, congenital, autosomal recessive 7|C0020757 joubert syndrome 9|C2676788 ichthyosis, congenital, autosomal recessive 8|C0020757 joubert syndrome 8|C2676771 epilepsy, juvenile absence, susceptibility to, 2|C3833492 ichthyosis, congenital, autosomal recessive 5|C0020757 ichthyosis, congenital, autosomal recessive 6|C0020757 peters-plus syndrome|C0796012 ichthyosis, congenital, autosomal recessive 3|C0020757 joubert syndrome 5|C1857780 joubert syndrome 4|C1846790 glutamine deficiency, congenital|C0162429 ichthyosis, congenital, autosomal recessive 1|C0020757 joubert syndrome 7|C1969053 ichthyosis, congenital, autosomal recessive 2|C0020757 joubert syndrome 6|C1853153 bone mineral density qtl 10 |C3842590 dermatitis, atopic, susceptibility to, 7 |C0392707 hyperekplexia 3|C3553288 hyperchylomicronemia, late-onset|C0023817 candidiasis, familial, 6, autosomal dominant|C0006840 ichthyosis, congenital, autosomal recessive 9|C0020757 atypical mycobacteriosis, familial, x-linked 2|C0026918 metabolic syndrome, protection against|C1545588 preterm premature rupture of the membranes, susceptibility to|C0151526 dihydrolipoamide dehydrogenase deficiency|C0268193 orofacial cleft-1 |C1861537 corneal dystrophy, avellino type|C0010036 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii|C1514241 myocardial infarction, susceptibility to, 2 |C3833492 leukemia-2, t-cell acute lymphoblastic |C0023418 skin/hair/eye pigmentation, variation in, 11 (melanesian blond hair)|C2677086 pallister-hall syndrome|C0265220 saethre-chotzen syndrome|C0175699 diaphragmatic hernia 3|C1857781 epilepsy, progressive myoclonic 4, with or without renal failure|C1963154 glioma susceptibility 8 |C2751637 dermatitis, atopic, susceptibility to, 6 |C0392707 mccune-albright syndrome|C0242292 porphyria, acute hepatic|C0032708 radiation sensitivity/chromosome instability syndrome, autosomal dominant |C1563697 dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency|C0162429 sorsby fundus dystrophy|C0339515 mental retardation, x-linked 20 |C3842589 myopia 20, autosomal dominant |C3842589 alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis |C0013902 atrial fibrillation, familial, 14|C0004238 fundus flavimaculatus|C0271093 atrial fibrillation, familial, 12|C0004238 alexander disease|C0270726 atrial fibrillation, familial, 13|C0004238 gnathodiaphyseal dysplasia|C1833736 atrial fibrillation, familial, 10|C0004238 aicardi-goutieres syndrome 1, dominant and recessive|C0796126 asthma-related traits, susceptibility to, 7|C0445223 atrial fibrillation, familial, 11|C0004238 mitochondrial complex 1 deficiency|C1838979 protein z deficiency|C3151465 cleidocranial dysplasia, forme fruste, dental anomalies only|C0262444 perrault syndrome 4|C3809105 erythrokeratodermia variabilis et progressiva|C0265961 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis|C0020678 lipoid adrenal hyperplasia|C0342474 dermatitis, atopic, susceptibility to, 5 |C0392707 perrault syndrome 1|C0685838 amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism|C0266039 perrault syndrome 3|C3808414 perrault syndrome 2|C3554105 seizures, benign familial infantile|C0036572 glutathione synthetase deficiency|C0398746 mental retardation, x-linked 17/31, microduplication|C0025362 usher syndrome, type 1h |C0271097 oculodentodigital dysplasia|C0812437 biliary cirrhosis, primary|C0023892 spastic paraplegia 10, autosomal dominant|C4016814 short stature, idiopathic familial|C0349588 temtamy preaxial brachydactyly syndrome|C1854466 epilepsy, familial temporal lobe|C0014544 orofacial cleft-3 |C1833369 mental retardation, autosomal recessive, 37|C0025362 mental retardation, truncal obesity, retinal dystrophy, and micropenis|C1387005 glioma susceptibility 6 |C2751639 mental retardation, x-linked 23 |C0025362 chondrosarcoma|C0008479 chromosome 17q11.2 deletion syndrome, 1.4mb |C3816745 amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to|C0011265 synesthesia |C0233778 dermatitis, atopic, susceptibility to, 4 |C0392707 meckel syndrome 10|C3842590 hemolytic anemia due to hexokinase deficiency|C0398563 sebastian syndrome|C1854520 agammaglobulinemia, x-linked 2 |C0001768 hemorrhagic diathesis due to \'antithrombin\' pittsburgh|C4017412 mental retardation, autosomal recessive, 6|C0025362 long qt syndrome, acquired, reduced susceptibility to|C0151878 polycystic kidney disease, adult type i|C0022680 nicotine dependence, protection against|C1545588 pseudofolliculitis barbae, susceptibility to|C0549150 myopathy, distal, 4|C0026848 levy-shanske syndrome |C3553858 orofacial cleft-2 |C1864323 joubert syndrome 19|C3553846 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness|C0011053 aplasia of lacrimal and salivary glands|C0243065 methylmalonyl-coa epimerase deficiency|C1855100 joubert syndrome 16|C3280906 pontocerebellar hypoplasia, type 6|C1261175 joubert syndrome 15|C3280897 glioma susceptibility 7 |C2751638 joubert syndrome 18|C3553758 dystonia 4, torsion, autosomal dominant|C1265748 joubert syndrome 17|C3553264 myopathy, x-linked, with postural muscle atrophy|C0541794 joubert syndrome 12|C3277723 joubert syndrome 14|C3280766 pontocerebellar hypoplasia, type 8|C1261175 joubert syndrome 13|C3280031 methionine adenosyltransferase deficiency, autosomal recessive|C0268621 dermatitis, atopic, susceptibility to, 3 |C3838680 joubert syndrome 10|C2749019 deafness and male infertility |C0021364 hypoparathyroidism, x-linked |C0020626 lysinuric protein intolerance|C0268647 renal cell carcinoma, clear cell, somatic|C0007134 supernumerary der(22)t(8-22) syndrome |C0039082 choroidal dystrophy, central areolar 1 |C0730291 legionaire disease, susceptibility to|C0012634 myopathy due to cpt ii deficiency|C0342790 pituitary tumor, invasive |C1334278 urate oxidase deficiency |C0162429 parasomnia, sleepwalking type |C0037672 leukemia, chronic lymphocytic susceptibility to, 4 |C0023418 night blindness, congenital stationary (complete), 1c, autosomal recessive|C3839460 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 9|C0026850 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5|C0026850 tourette syndrome|C0040517 alcohol sensitivity, acute|C0678306 left-right axis malformations |C1866091 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1|C3816745 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 2|C3833492 joubert syndrome 21|C3810212 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 3|C3838680 joubert syndrome 20|C3554235 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4|C0026850 melioidosis, susceptibilty to|C0025229 leukemia, chronic lymphocytic susceptibility to, 5 |C0023418 hemolytic uremic syndrome, atypical, susceptibility to|C0741302 pseudohyperkalemia, familial, 2, due to red cell leak |C1608322 central hypoventilation syndrome|C0520680 dermatitis, atopic, susceptibility to, 1 |C3816745 hypogonadotropic hypogonadism 19 with or without anosmia|C0003126 neurodegeneration with brain iron accumulation 6|C4055506 spondylocostal dysostosis 3, autosomal recessive|C0265343 osteogenesis imperfecta, type xiii|C0029434 neurodegeneration with brain iron accumulation 4|C4055506 neurodegeneration with brain iron accumulation 3|C4055506 hypertension, essential, susceptibility to, 7 |C1963138 skin fragility-woolly hair syndrome|C1843292 ichthyosis bullosa of siemens|C0020757 microcephaly-capillary malformation syndrome|C3280296 pelvic organ prolapse, susceptibility to, 2 |C3833492 epidermolysis bullosa simplex-mp|C0079298 mental retardation, x-linked|C0025362 malignant melanoma, somatic|C0151779 neurodegeneration with brain iron accumulation 1|C4055506 ptosis, hereditary congenital|C0005745 anxiety-related personality traits|C0233849 brittle cornea syndrome 2|C3280011 spondyloarthropathy, susceptibility to, 2 |C3833492 deafness, autosomal dominant 13|C0011053 hashimoto thyroiditis |C0677607 chylomicron retention disease|C0795956 deafness, autosomal dominant 11|C0011053 renal hypodysplasia, nonsyndromic|C2677304 silver-russell syndrome |C0175693 urofacial syndrome 1|C0403555 deafness, autosomal dominant 10|C3842590 tangier disease|C0039292 urofacial syndrome 2|C3554520 cataract 27, nuclear progressive |C1846520 estrogen resistance|C3809250 hypoparathyroidism-retardation-dysmorphism syndrome|C1855840 hypertension, essential, susceptibility to, 8 |C1963138 l-ferritin deficiency, dominant and recessive|C3810090 skin/hair/eye pigmentation 5, dark/light eyes|C3842678 thrombophilia due to protein c deficiency, autosomal dominant|C0398625 pelvic organ prolapse, susceptibility to, 1 |C3816745 aldosteronism, glucocorticoid-remediable|C0020428 sarcoidosis, early-onset|C1833334 neuropathy, recurrent, with pressure palsies|C0522224 cd11c+/cd1c+ dendritic cell deficiency, dominant|C0162429 pulmonary fibrosis, idiopathic|C0034069 thyroid dyshormonogenesis 2a|C1291299 hemophilia a|C0019069 prostate cancer, progression and metastasis of|C0027627 neuropathy, hereditary sensory, with spastic paraplegia|C0037772 hemophilia b|C0008533 corneal dystrophy, epithelial basement membrane|C0010036 deafness, autosomal dominant 25|C0011053 chromosome 3q13.31 deletion syndrome |C3809490 deafness, autosomal dominant 22|C0011053 leukemia, acute promyelocytic, pml/rara type |C0023418 deafness, autosomal dominant 23|C0011053 ceroid lipofuscinosis, neuronal, kufs type, adult onset|C1853562 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency|C1274233 pachyonychia congenita, jackson-lawler type|C0265334 nestor-guillermo progeria syndrome|C3151446 deafness, autosomal dominant 17|C0011053 carnitine deficiency, systemic primary|C0342788 deafness, autosomal dominant 15|C0011053 vlcad deficiency|C3887523 macular degeneration, age-related, 13, susceptibility to|C0445223 wolfram syndrome 2|C1858028 mitochondrial dna depletion syndrome 7 (hepatocerebral type)|C0039082 ulnar-mammary syndrome|C1866994 multiple synostosis syndrome 1|C0175700 spondyloarthropathy, susceptibility to, 3 |C3838680 peutz-jeghers syndrome|C0031269 laryngeal adductor paralysis |C0396060 nicotine addiction, protection from|C1545588 biliary cirrhosis, primary, 3 |C3838680 parathyroid adenoma with cystic changes|C1511605 brain small vessel disease with axenfeld-rieger anomaly|C0266548 myopathy, early-onset, with fatal cardiomyopathy|C4016613 epidermolysis bullosa, junctional, with pyloric stenosis|C0034194 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1|C3816745 diastrophic dysplasia, broad bone-platyspondylic variant|C0265679 multiple self-healing squamous epithelioma, susceptiblity to|C0007137 aicardi-goutieres syndrome 3|C1835916 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 3|C3838680 aicardi-goutieres syndrome 2|C3489724 cocoon syndrome|C3150891 deep venous thrombosis, protection against|C1545588 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 2|C3833492 aicardi-goutieres syndrome 5|C2749659 renal dysplasia, cystic, susceptibility to|C0235831 aicardi-goutieres syndrome 4|C1835912 leukemia, acute myeloblastic |C0023418 alstrom syndrome|C0268425 bcg infection, generalized familial|C0009450 aicardi-goutieres syndrome 6|C3539013 muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6|C0025362 senior-loken syndrome 6|C1857779 senior-loken syndrome 5|C1836517 leiomyomatosis and renal cell cancer|C0007134 senior-loken syndrome 4|C1846979 biliary cirrhosis, primary, 2 |C3833492 short qt syndrome 1|C1865020 multiple sulfatase deficiency|C0268263 palmoplantar hyperkeratosis and true hermaphroditism|C0266361 short qt syndrome 2|C1865019 short qt syndrome 3|C1865018 senior-loken syndrome 7|C3150877 pheochromocytoma|C0031511 colon cancer, advanced |C0007102 leigh syndrome due to mitochondrial complex 1 deficiency|C1838979 epilepsy, progressive myoclonic 2b (lafora)|C0014544 anhaptoglobinemia|C3279786 moyamoya disease 3 |C1837418 ovarian carcinoma |C0029925 cataract 11, multiple types|C0086543 single median maxillary central incisor|C1840235 vitamin d-dependent rickets, type i|C0221468 pancreatic endocrine tumors |C0242363 schopf-schulz-passarge syndrome|C1857069 mucolipidosis iii alpha/beta|C0033788 mitochondrial myopathy and sideroblastic anemia 1|C0002896 kondoh syndrome |C1853480 moyamoya disease 4 |C2931384 seizures, benign neonatal, type 2|C0036572 ectodermal dysplasia 8, hair/tooth/nail type |C0013575 deafness, autosomal dominant 52 |C0011053 genitopatellar syndrome|C1853566 dowling-degos disease 1|C3714534 dowling-degos disease 2|C3809147 high density lipoprotien cholesterol level qtl6|C1522133 chromosome 1q21.1 duplication syndrome |C2675891 tooth agenesis, selective|C4024202 dna ligase i deficiency |C4016019 hypocalcemia, autosomal dominant, with bartter syndrome|C0004775 multicentric osteolysis, nodulosis, and arthropathy|C0022408 dyskinesia, familial, with facial myokymia|C0270871 deafness, autosomal dominant 51 |C0011053 fasting insulin level quantitative trait locus 1 |C2676369 inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1|C0236642 microcephaly 1, primary, autosomal recessive|C0025958 craniometaphyseal dysplasia, autosomal recessive|C0265292 retinitis pigmentosa 4, autosomal dominant or recessive|C3151001 mental retardation, x-linked, syndromic 15 (cabezas type)|C0039082 migraine, with or without aura, susceptibility to, 12 |C0236018 cardiomyopathy, dilated, 1d|C0700124 cardiomyopathy, dilated, 1e|C0700124 hypogonadotropic hypogonadism 18 with or without anosmia|C0003126 otosclerosis 8 |C2677515 cardiomyopathy, dilated, 1aa|C0700124 peroxisome biogenesis disorder 1a (zellweger)|C0282528 cardiomyopathy, dilated, 1a|C0700124 cardiomyopathy, dilated, 1l|C0700124 cardiomyopathy, dilated, 1m|C0700124 cardiomyopathy, dilated, 1n|C0700124 hyperoxaluria, primary, type 1|C0020500 cardiomyopathy, dilated, 1g|C0700124 short-rib thoracic dysplasia 1 with or without polydactyly |C0152427 cardiomyopathy, dilated, 1i|C0700124 cardiomyopathy, dilated, 1j|C0700124 cardiomyopathy, dilated, 1s|C0700124 cardiomyopathy, dilated, 1t|C0700124 townes-brocks syndrome|C0265246 cardiomyopathy, dilated, 1u|C0700124 cardiomyopathy, dilated, 1v|C0700124 neutropenia, nonimmune chronic idiopathic, of adults|C0023530 cardiomyopathy, dilated, 1o|C0700124 cardiomyopathy, dilated, 1p|C0700124 psoriasis susceptibility 11 |C0033860 cardiomyopathy, dilated, 1r|C0700124 cataract 23|C3808012 leukemia, acute myelogenous|C0023418 meckel syndrome 3|C4017204 meckel syndrome 2|C3714506 meckel syndrome 5|C3714506 spherocytosis, hereditary, type 5|C0553720 meckel syndrome 4|C3714506 c7 deficiency|C1864694 cardiomyopathy, dilated, 1w|C0700124 cardiomyopathy, dilated, 1x|C0700124 cardiomyopathy, dilated, 1y|C0700124 meckel syndrome 1|C3714506 cardiomyopathy, dilated, 1z|C0700124 warfarin resistance|C0750384 otosclerosis 7 |C1969044 meckel syndrome 7|C3714506 cardiomyopathy, dilated, 1bb|C0700124 cardiomyopathy, dilated, 2a|C0700124 meckel syndrome 6|C3714506 cardiomyopathy, dilated, 2b|C0700124 meckel syndrome 9|C3714506 meckel syndrome 8|C3714506 hyperthyroidism, familial gestational|C0020550 eec syndrome-1 |C1851841 isovaleric acidemia|C0268575 myopathy, tubular aggregate|C0333768 foveal hyperplasia|C0020507 psoriasis susceptibility 12 |C0033860 maple syrup urine disease, mild variant|C0024776 woolly hair, autosomal recessive 1, with or without hypotrichosis|C0020678 lymphoma, malt, somatic|C0024299 cataract 36|C3151304 candidiasis, familial, 5, autosomal recessive|C0006840 long qt syndrome 2, acquired, susceptibility to|C3150943 diabetes mellitus, noninsulin-dependent|C0011849 cataract 33|C3808107 spinal muscular atrophy with progressive myoclonic epilepsy|C0751778 unipolar depression, susceptibility to|C0041696 porphyria, hepatoerythropoietic|C0032708 microcornea, myopic chorioretinal atrophy, and telecanthus|C0423113 cardiomyopathy, dilated, 1cc|C0700124 cardiomyopathy, dilated, 3b|C0700124 hypomagnesemia 3, renal|C0151723 achondroplasia|C0001080 marinesco-sjogren syndrome|C0024814 fibrosis of extraocular muscles, congenital, 3c |C0016059 gastrointestinal stromal tumor, familial|C0238198 glut1 deficiency syndrome 1|C1847501 glut1 deficiency syndrome 2|C1842534 trichoepithelioma, multiple familial|C0349658 anemia, hypochromic microcytic|C0302870 adiponectin deficiency|C2675518 chromosome xp11.23-p11.22 duplication syndrome |C2749022 afibrinogenemia, congenital|C0001733 dravet syndrome, modifier of|C0751122 deafness, autosomal dominant 36, with dentinogenesis|C0011053 deafness, autosomal recessive 96 |C0011053 monilethrix|C0546966 refsum disease, adult, with increased pipecolicacidemia |C0268537 otosclerosis 5 |C1837422 thrombotic thrombocytopenic purpura, familial|C0034155 miles-carpenter syndrome |C1275078 cartilage-hair hypoplasia|C0220748 cardiomyopathy, dilated, 1dd|C0700124 paget disease of bone |C0029401 goeminne tkcr syndrome |C1839129 hemolytic uremic syndrome, atypical, susceptibility to, 6|C0741302 hemolytic uremic syndrome, atypical, susceptibility to, 5|C0741302 hemolytic uremic syndrome, atypical, susceptibility to, 4|C0741302 hemolytic uremic syndrome, atypical, susceptibility to, 3|C3838680 hemolytic uremic syndrome, atypical, susceptibility to, 2|C3833492 hemolytic uremic syndrome, atypical, susceptibility to, 1|C3816745 hepatic venoocclusive disease with immunodeficiency|C0021051 asthma-related traits, susceptibility to, 8 |C0445223 hypophosphatasia, childhood|C0020630 cataract 19|C3809004 perry syndrome|C1868594 platyspondylic skeletal dysplasia, torrance type|C0029422 osteosarcoma|C0585442 peroxisome biogenesis disorder 1b (nald/ird)|C0282527 t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations|C0018798 cardiomyopathy, dilated, 1ee|C0700124 bradyopsia|C1842073 poikiloderma with neutropenia|C0027947 peroxisome biogenesis disorder 3a (zellweger)|C0282528 huntington disease-like 1|C3816745 nablus mask-like facial syndrome |C1842464 huntington disease-like 2|C1847987 methylmalonic aciduria, vitamin b12-responsive|C1855119 hemihypertrophy |C0332890 thrombocytopenia-2|C1861185 periventricular heterotopia with microcephaly|C0025958 dyschromatosis symmetrica hereditaria|C0406775 gaucher disease, type iii|C0017205 thrombocytopenia, paris-trousseau type |C0040034 amish infantile epilepsy syndrome|C1836824 mitochondrial dna depletion syndrome 11|C3554462 pyogenic bacterial infections, recurrent, due to myd88 deficiency|C2677092 malonyl-coa decarboxylase deficiency|C0342793 kawasaki disease, susceptibility to|C0026691 coronary artery disease |C0010054 saccharopinuria|C2936921 spinocerebellar ataxia 25 |C1837518 atrioventricular septal defect 3|C3275750 hyperekplexia 2, autosomal recessive|C3553291 pendred syndrome|C0271829 rippling muscle disease-1 |C1838254 atrioventricular septal defect 5|C3280939 atrioventricular septal defect 4|C3280781 pneumothorax, primary spontaneous|C0032326 skin/hair/eye pigmentation 9, dark/light hair|C3842678 cancer progression/metastasis |C0027627 parkinson disease 7, autosomal recessive early-onset|C1833334 mental retardation, x-linked, syndromic, hedera type|C0039082 left ventricular noncompaction 8|C3809288 cardiomyopathy, dilated, 1ff|C0700124 left ventricular noncompaction 9|C3808145 hypomagnesemia 5, renal, with ocular involvement|C0151723 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma|C0155360 glomerulosclerosis, focal segmental, 4, susceptibility to|C0178664 otofaciocervical syndrome 2|C3714942 cardiomyopathy, dilated, 1h |C0700124 asthma-related traits, susceptibility to, 6 |C0445223 left ventricular noncompaction 4|C3150682 myocardial infarction, decreased susceptibility to|C0027051 left ventricular noncompaction 5|C3150690 systemic lupus erythematosus with nephritis, susceptibility to, 3 |C3838680 left ventricular noncompaction 6|C1832243 left ventricular noncompaction 7|C3554496 pancreatic carcinoma, somatic |C0235974 spastic paraplegia 47, autosomal recessive|C0037772 amelogenesis imperfecta, type ib|C0002452 amelogenesis imperfecta, type ic|C0002452 odontoonychodermal dysplasia|C0796093 deafness, autosomal recessive 13 |C0011053 short-rib thoracic dysplasia 3 with or without polydactyly|C0152427 cardiomyopathy, dilated, 1gg|C0700124 proguanil poor metabolizer|C3845231 ichthyosis prematurity syndrome|C1837610 myopathy, distal 2|C0026848 hypertrichotic osteochondrodysplasia|C0795905 metaphyseal chondrodysplasia, murk jansen type|C0265290 lipodystrophy, familial partial, 2|C0023787 scapuloperoneal syndrome, neurogenic, kaeser type|C0039082 sengers syndrome|C1859317 cardiomyopathy, familial hypertrophic 6|C0020564 nephropathy-hypertension |C0848548 hyperoxaluria, primary, type iii|C0020500 myopathy, areflexia, respiratory distress, and dysphagia, early-onset|C1833334 transient bullous of the newborn|C2239178 right atrial isomerism|C3178806 malaria, mild, susceptibility to|C0024530 gracile bone dysplasia|C1865639 systemic lupus erythematosus with nephritis, susceptibility to, 2 |C3833492 immunodeficiency, common variable, 10|C0021051 bone mineral density qtl 12, osteoporosis|C0029456 myopathy, congenital, compton-north|C0026848 deafness, autosomal recessive 14 |C0011053 cardiomyopathy, dilated, 1hh|C0700124 immunodeficiency due to ficolin 3 deficiency|C3151226 charcot-marie-tooth disease, x-linked dominant, 6|C1847879 leukemia, acute lymphoblastic, susceptibility to, 2 |C3833492 lowe syndrome|C0028860 immunoglobulin a deficiency |C0162538 asthma-related traits, susceptibility to, 3 |C3838680 sudden infant death with dysgenesis of the testes syndrome|C0039082 3p- syndrome |C0795806 asthma-related traits, susceptibility to, 4 |C0445223 craniosynostosis 5, susceptibility to|C0010278 progressive external ophthalmoplegia with mitochondrial dna deletions 3|C0948051 osteoporosis, postmenopausal|C0029456 d-2-hydroxyglutaric aciduria|C2746066 deafness, autosomal dominant 59 |C0011053 testicular germ cell tumor |C1336708 conotruncal heart malformations, variable|C1857586 gaze palsy, horizontal, with progressive scoliosis|C1855221 systemic lupus erythematosus with nephritis, susceptibility to, 1 |C3816745 glutaric acidemia iia|C3278154 corneal fleck dystrophy|C0010036 charcot-marie-tooth disease, foot deformity of|C0016506 bronchiectasis with or without elevated sweat chloride 1|C1856646 cardiomyopathy, dilated, 1ii|C0700124 bronchiectasis with or without elevated sweat chloride 2|C1856646 bronchiectasis with or without elevated sweat chloride 3|C1856646 achromatopsia-3|C1849792 achromatopsia-2|C1857618 hepatitis c virus, response to therapy of|C1363945 cardiomyopathy, dilated, 1k |C0700124 achromatopsia-4|C1841721 activated pi3k-delta immunodeficiency syndrome|C0021051 ectodermal dysplasia, ectrodactyly, and macular dystrophy|C0339508 keratosis palmoplantaris striata i, ad|C2931122 lujan-fryns syndrome|C0796022 combined c6/c7 deficiency |C1864694 glioma susceptibility 1|C2750850 high density lipoprotein cholesterol, low serum, 3 |C3838680 peeling skin syndrome|C1849193 citrullinemia, type ii, neonatal-onset|C1855106 corneal endothelial dystrophy and perceptive deafness|C0018784 glioma susceptibility 2|C2751642 mental retardation, autosomal dominant 21|C0025362 deafness, autosomal dominant 54 |C0011053 mental retardation, autosomal dominant 22|C0025362 mental retardation, autosomal recessive 1|C0025362 mental retardation, autosomal recessive 2|C0025362 spinocerebellar ataxia 36|C3472711 mental retardation, autosomal recessive 3|C0025362 spinocerebellar ataxia 35|C3888031 dyschromatosis universalis hereditaria 2 |C2675183 mental retardation, autosomal recessive 5|C0025362 spastic paraplegia 53, autosomal recessive|C0037772 glutaric acidemia iib|C3278155 spinocerebellar ataxia 21 |C1843891 glutaric acidemia iic|C4025603 mental retardation, autosomal recessive 7|C0025362 spinocerebellar ataxia 31|C1861736 leigh syndrome, french-canadian type|C0238884 choanal atresia and lymphedema|C0024236 cardiomyopathy, dilated, 1jj|C0700124 hyperphenylalaninemia, bh4-deficient, c|C0751435 hyperphenylalaninemia, bh4-deficient, d|C0751435 deafness, y-linked 1 |C0011053 hyperphenylalaninemia, bh4-deficient, a|C0751435 hypophosphatemic rickets, autosomal recessive, 2|C3833492 hyperphenylalaninemia, bh4-deficient, b|C0751435 osteoporosis|C0029456 spinocerebellar ataxia 4 |C0752122 hypercalciuria, absorptive |C3845919 hyperlipidemia, combined|C0020473 osteosarcoma, somatic|C0585442 long qt syndrome 12|C2751830 orofaciodigital syndrome v|C1868118 charge syndrome|C0265354 deafness, autosomal dominant 53 |C0011053 osteoporosis, early-onset, susceptibility to, autosomal dominant|C1833334 thrombosis, hyperhomocysteinemic|C0598608 scoliosis, idiopathic, susceptibility to, 4 |C0700208 thyroid carcinoma with thyrotoxicosis |C0040156 long qt syndrome 13|C3150733 cardiomyopathy, dilated, 1kk|C0700124 corneal dystrophy, groenouw type i|C0010036 sarcoma, synovial|C1299262 thyroid carcinoma, papillary|C0549473 epilepsy, familial focal, with variable foci|C0014544 wegener granulomatosis |C3495801 pcwh syndrome|C0039082 spinocerebellar ataxia 19|C1846367 spinocerebellar ataxia 15|C1847725 spinocerebellar ataxia 17|C1846707 axenfeld-rieger syndrome, type 3|C3495488 glycogen storage disease xiv|C2752015 leukemia, acute promyelocytic, numa/rara type |C0023418 spinocerebellar ataxia 12|C1858501 spinocerebellar ataxia 11|C1858351 axenfeld-rieger syndrome, type 1|C3495488 spinocerebellar ataxia 14|C1854369 spinocerebellar ataxia 13|C1854488 cataract 18, autosomal recessive|C1864908 spinocerebellar ataxia 10|C1963674 hyper-ige recurrent infection syndrome|C0239998 mental retardation, autosomal dominant 18|C0025362 mental retardation, autosomal dominant 19|C0025362 dermatofibrosarcoma protuberans|C0206647 hepatitis c virus infection, response to therapy of|C1363945 mental retardation, autosomal dominant 14|C0025362 cardiomyopathy, dilated, 1ll|C0700124 mental retardation, autosomal dominant 15|C0025362 severe combined immunodeficiency, b cell-negative|C1513916 mental retardation, autosomal dominant 16|C0025362 mental retardation, autosomal dominant 17|C0025362 chondrodysplasia punctata, x-linked dominant|C1847879 glycogen storage disease xii|C0272066 megalencephaly, autosomal recessive|C0221355 cone-rod dystrophy 6, 601777|C1866293 hydatidiform mole, recurrent, 2|C3833492 neuropathy, distal hereditary motor, type va|C0442874 ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness|C0151786 rickets, vitamin d-resistant, type iia|C0035579 autoimmune lymphoproliferative syndrome, type ia|C1328840 autoimmune lymphoproliferative syndrome, type ib|C1328840 spinocerebellar ataxia 27|C1836383 spinocerebellar ataxia 26|C1836395 hemochromatosis|C0018995 heterotaxy, visceral, 1, x-linked 306955 |C3816745 neuropathy, hereditary sensory, type iic|C0442874 spinocerebellar ataxia 28|C1853249 mental retardation, autosomal dominant 10|C3842590 spinocerebellar ataxia 23|C1853250 mental retardation, autosomal dominant 11|C0025362 autoimmune lymphoproliferative syndrome, type ii|C1328840 langer mesomelic dysplasia|C0432230 mental retardation, autosomal dominant 12|C0025362 dyschromatosis universalis hereditaria 1 |C2675711 mental retardation, autosomal dominant 13|C0025362 cystathioninuria|C1963708 male germ cell tumor |C1336708 creutzfeldt-jakob disease|C0022336 spinocerebellar ataxia 20 |C1837541 usher syndrome, type 1b|C0271097 usher syndrome, type 1d|C0271097 usher syndrome, type 1c|C0271097 mental retardation, autosomal dominant 3|C0025362 usher syndrome, type 1f|C0271097 von willebrand disease, type 1|C0042974 cardiomyopathy, dilated, 1mm|C0700124 mental retardation, autosomal dominant 4|C0025362 mental retardation, autosomal dominant 1|C0025362 mental retardation, autosomal dominant 2|C0025362 usher syndrome, type 1g|C0271097 mental retardation, autosomal dominant 7|C0025362 mental retardation, autosomal dominant 8|C0025362 mental retardation, autosomal dominant 5|C0025362 46xy partial gonadal dysgenesis, with minifascicular neuropathy|C0442874 mental retardation, autosomal dominant 6|C0025362 camptodactyly 1 |C2751430 farber lipogranulomatosis|C0268255 mean platelet volume qtl3 |C0344388 mental retardation, autosomal dominant 9|C0025362 mucopolysaccharidosis is|C0026703 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis|C0566602 weissenbacher-zweymuller syndrome|C1848488 van der woude syndrome|C0175697 frontometaphyseal dysplasia|C0265293 mucopolysaccharidosis ih|C0026703 colorectal cancer, susceptibility to, 8 |C1527249 mucopolysaccharidosis ii|C0026705 severe combined immunodeficiency with sensitivity to ionizing radiation|C0020517 cardiac valvular dysplasia, x-linked|C0334044 achromatopsia 6|C3552227 amp deaminase deficiency, erythrocytic|C0268123 hypocalcemia, autosomal dominant|C0020598 myoclonus, familial cortical|C0027066 rapp-hodgkin syndrome|C1785148 usher syndrome, type 2c|C0271097 usher syndrome, type 2d|C0271097 cerebellar ataxia and hypogonadotropic hypogonadism|C0271623 hypogonadotropic hypogonadism 16 with or without anosmia|C0003126 stickler syndrome, type iii|C2020284 glioblastoma 3|C0017636 cataract 37, autosomal dominant |C3280758 glomerulopathy with fibronectin deposits 1 |C3816745 usher syndrome, type 2a|C0271097 cold-induced sweating syndrome 1|C1848947 ghosal hematodiaphyseal syndrome|C4016444 rieger or axenfeld anomalies|C0266548 lymphedema, hereditary, ib |C0024236 mean platelet volume qtl4 |C0344388 colorectal cancer, susceptibility to, 7 |C1527249 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14|C0026850 amelogenesis imperfecta, type iia1|C0002452 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal|C4022995 amelogenesis imperfecta, type iia2|C0002452 focal cortical dysplasia, taylor balloon cell type|C2938983 gastroesophageal reflux |C0017168 macular degeneration, age-related, 15, suscepbitility to|C0445223 multiple sclerosis, disease progression, modifier of|C1947900 pre-b-cell acute lymphoblastic leukemia |C0349636 marfan syndrome|C0024796 left ventricular noncompaction 2 |C1836118 mucopolysaccharidosis vii|C0085132 cleidocranial dysplasia|C0008928 adrenocortical tumor, somatic, |C0001618 hypoaldosteronism, congenital, due to cmo i deficiency|C0268293 gerstmann-straussler disease|C0017495 atrichia with papular lesions|C1519353 mean platelet volume qtl5 |C0344388 cardiomyopathy, dilated, 1q |C0700124 left ventricular noncompaction 10|C3715165 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|C0271623 split-hand/foot malformation with long bone deficiency 3 |C0162429 dysalbuminemic hyperthyroxinemia |C1863119 telangiectasia, hereditary hemorrhagic, type 4 |C0039446 thrombophilia due to activated protein c resistance|C0600433 cataract 6, multiple types|C0086543 mean platelet volume qtl6 |C0344388 essential tremor, susceptibility to|C0270736 colorectal cancer, susceptibility to, 9 |C1527249 spermatogenic failure, y-linked, 2|C3833492 hiv-1 viremia, susceptibility to|C0042749 niemann-pick disease, type b|C0028064 night blindness, congenital stationary (incomplete), 2b, autosomal recessive|C3839460 psoriatic arthritis, susceptibility to|C0003872 hypotrichosis, localized, autosomal recessive 2|C0020678 niemann-pick disease, type d|C0028064 niemann-pick disease, type a|C0028064 osteochondritis dissecans, short stature, and early-onset osteoarthritis|C1846845 cerebral cavernous malformations 3|C1864040 hydrocephalus, nonsyndromic, autosomal recessive|C2677304 spondyloenchondrodysplasia with immune dysregulation|C1844666 amyloidosis, hereditary renal|C0002726 split-hand/foot malformation with long bone deficiency 2 |C0162429 igg receptor i, phagocytic, familial deficiency of |C0162429 giant axonal neuropathy-1|C1850386 vesicoureteral reflux 3|C3150927 spinal muscular atrophy, chronic distal, autosomal recessive |C0026847 vesicoureteral reflux 2|C1970483 moyamoya disease 5|C3279690 arthrogryposis, renal dysfunction, and cholestasis 1|C0008370 arthrogryposis, renal dysfunction, and cholestasis 2|C0008370 leukotriene c4 synthase deficiency|C3279662 parkinsonism-dystonia, infantile|C0393593 endometrial cancer, familial|C1883486 immunodeficiency with hyper-igm, type 2|C0424295 immunodeficiency with hyper-igm, type 3|C0424295 senior-loken syndrome-1|C0403553 minicore myopathy with external ophthalmoplegia|C0162292 tauopathy and respiratory failure |C1145670 thrombocytopenia 2|C1861185 neurodegeneration with brain iron accululation 5|C0027746 small cell cancer of the lung, somatic|C0262584 neuropathy, hereditary sensory, type ib |C0442874 thrombocytopenia 4|C2677608 auditory neuropathy, autosomal recessive, 1|C3816745 denys-drash syndrome|C0950121 episodic ataxia/myokymia syndrome|C0039082 agammaglobulinemia 6|C4016221 mucopolysaccharidosis ih/s|C0026703 split-hand/foot malformation with long bone deficiency 1 |C0162429 hypoceruloplasminemia, hereditary|C0878682 parkinson disease, juvenile, type 2|C0030567 bcg and salmonella infection, disseminated|C0036117 opremazole poor metabolizer|C3845231 hypotrichosis 11|C3554409 retinal dystrophy, early-onset severe|C1833334 nemaline myopathy 4, autosomal dominant|C1836447 bare lymphocyte syndrome, type i, due to tap2 deficiency|C0162429 tremor, hereditary essential|C1963252 hypertension, essential, salt-sensitive|C0020517 agammaglobulinemia 1|C4016215 testicular microlithiasis|C1864873 agammaglobulinemia 3|C4015923 peroxisome biogenesis disorder 2b|C3550234 agammaglobulinemia 2|C0001768 chime syndrome|C0039082 agammaglobulinemia 5|C0001768 mucopolysaccharidosis type vi (maroteaux-lamy)|C0026709 agammaglobulinemia 4|C0001768 vohwinkel syndrome|C0265964 multiple mitochondrial dysfunctions syndrome 3|C3809165 chromosome 22q13 duplication syndrome|C3809844 multiple mitochondrial dysfunctions syndrome 1|C3276432 multiple mitochondrial dysfunctions syndrome 2|C3280378 nijmegen breakage syndrome-like disorder|C0012634 immunodeficiency-centromeric instability-facial anomalies syndrome-2|C3279748 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2|C0394006 deafness, autosomal dominant 1|C0011053 myopathy, myofibrillar, 4|C0026848 myopathy, myofibrillar, 3|C3838680 myopathy, myofibrillar, 2|C3833492 myopathy, myofibrillar, 1|C3816745 deafness, autosomal dominant 5|C0011053 diabetes mellitus, transient neonatal, 1|C0011849 systemic lupus erthematosus, susceptibility to, 15 |C0409974 diabetes mellitus, transient neonatal, 3|C0011849 myopathy, myofibrillar, 6|C0026848 myopathy, myofibrillar, 5|C0026848 serkal syndrome|C2678492 deafness, autosomal dominant 9|C0011053 lethal congenital contractural syndrome 3|C1969655 myxoid liposarcoma|C0206634 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4|C0394006 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism|C0271623 lethal congenital contractural syndrome 2|C0039082 analgesia from kappa-opioid receptor agonist, female-specific|C0344307 trichotillomania|C0040953 ehlers-danlos syndrome, type i|C0013720 ocular albinism with sensorineural deafness |C0018784 prostate cancer, progression of|C0242656 aicardi syndrome |C0175713 inflammatory bowel disease 17, protection against|C1545588 muscular dystrophy, congenital, merosin-positive |C1514241 low renin hypertension, susceptibility to |C0597849 hyperproinsulinemia, familial, with or without diabetes |C0011847 pituitary adenoma, growth hormone-secreting|C0032000 short-rib thoracic dysplasia 6 with or without polydactyly|C0152427 chromosome 6pter-p24 deletion syndrome |C2675486 macular dystrophy |C0339508 luteinizing hormone resistance, female|C0520983 leydig cell hypoplasia with pseudohermaphroditism|C0033804 hepatocellular cancer, somatic|C0345904 retinitis pigmentosa, digenic|C0035334 schinzel-giedion midface retraction syndrome|C0265227 trichorhinophalangeal syndrome, type i|C0265255 episodic pain syndrome, familial|C0039082 weaver syndrome|C0265210 ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency|C0162429 manitoba oculotrichoanal syndrome|C1855425 paroxysmal nonkinesigenic dyskinesia 2 |C1970149 cataract 7 |C0344523 mental retardation, x-linked 1|C0025362 branchiootorenal syndrome 1, with or without cataracts|C0521707 malignant hyperthermia susceptibility 1|C0024591 tuberculosis, susceptibility to |C0041296 malignant hyperthermia susceptibility 5|C0024591 methemoglobinemia, type ii|C0025637 crigler-najjar syndrome, type i|C0010324 ehlers-danlos syndrome, cardiac valvular form|C0013720 norum disease|C0023195 bronchiectasis with or without elevated sweat chloride 1, modifier of|C1856646 diamond-blackfan anemia 9|C2750081 preeclampsia/eclampsia 5|C3281288 diamond-blackfan anemia 8|C2675511 preeclampsia/eclampsia 4|C1836255 diamond-blackfan anemia 7|C2675512 diamond-blackfan anemia 6|C2931850 diamond-blackfan anemia 5|C2675859 diamond-blackfan anemia 4|C2675860 mental retardation, x-linked 9|C0025362 diamond-blackfan anemia 3|C1857719 keratosis follicularis spinulosa decalvans|C0343057 diamond-blackfan anemia 1|C2676137 wegener-like granulomatosis |C0521173 masa syndrome|C0795953 fibrosis of extraocular muscles, congenital, 3b|C0016059 fibrosis of extraocular muscles, congenital, 3a|C0016059 central hypoventilation syndrome, congenital, with or without hirschsprung disease|C0019569 renpenning syndrome|C0796135 craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies|C0376634 synpolydactyly, type ii|C2699746 epidermolysis bullosa simplex, sutosomal recessive 2|C0079298 autism susceptibility 11 |C0004352 colon cancer, susceptibility to|C0007102 microphthalmia, isolated 1 |C3816745 3q21q26 syndrome |C0039082 aids, rapid progression to|C1838681 corticosteroid-binding globulin deficiency|C1852529 methemoglobinemias, alpha- |C0025637 nephronophthisis-like nephropathy 1|C0022658 leukemia, acute t-cell |C0023418 budd-chiari syndrome|C0019154 cataract 41|C3805412 angelman syndrome-like|C0162635 migraine, familial basilar|C0149931 bowen-conradi syndrome|C1859405 colorectal cancer, susceptibility to, 2 |C3833492 acampomelic campomelic dysplasia|C1861923 diabetes mellitus, ketosis-prone|C0022638 tyrosine kinase 2 deficiency|C1969086 lenz-majewski hyperostotic dwarfism|C0432269 deafness, autosomal dominant 20/26|C3842589 septic shock, susceptibility to |C0036983 systemic lupus erythematosus susceptibility to|C0024141 basal ganglia calcification, idiopathic|C1389280 nance-horan syndrome|C0796085 colorectal cancer, susceptibility to, 12|C1527249 colorectal cancer, susceptibility to, 10|C1527249 epidermolysis bullosa simplex with pyloric atresia|C0266159 isolated growth hormone deficiency due to defect in ghrf |C0013338 warsaw breakage syndrome|C3150658 germ cell tumors|C0205851 crash syndrome|C0795953 carpenter syndrome|C1275078 cousin syndrome|C1850040 viral infection, susceptibility to |C0042769 autism susceptibility 13 |C0004352 tourette syndrome |C0040517 candidiasis, familial, 4, autosomal recessive|C0006840 telangiectasia, hereditary hemorrhagic, type 3 |C0039446 infantile neuroaxonal dystrophy 1|C0270724 peroxisomal acyl-coa oxidase deficiency|C1849678 jalili syndrome|C3495589 mental retardation, x-linked 77 |C0025362 cystinosis, nephropathic|C0022658 warfarin sensitivity|C2608079 erythermalgia, primary|C0014804 cataract 8, multiple types |C0086543 colorectal cancer, susceptibility to, 4 |C1527249 trichohepatoenteric syndrome 1|C1857276 trichohepatoenteric syndrome 2|C3281289 cystinuria|C0010691 hypotrichosis 9 |C3280252 cardiofaciocutaneous syndrome|C1275081 lung cancer susceptibility 5 |C3280156 glucocorticoid therapy, response to|C1704632 alpha-thalassemia myelodysplasia syndrome, somatic|C0585216 autism susceptibility 12 |C0004352 hypospadias 4, x-linked, susceptibilty to |C1691215 dystonia, dopa-responsive, with or without hyperphenylalaninemia|C0751435 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity|C0004368 subcortical laminar heterotopia|C1848201 spinocerebellar ataxia, x-linked 1|C0087012 glycogen storage disease xi|C2931743 melkersson-rosenthal syndrome |C0025235 factor xiiib deficiency|C0162429 hypophosphatemic rickets and hyperparathyroidism |C0020502 seasonal affective disorder, susceptibility to|C0085159 glycogen storage disease xv|C3150754 palmoplantar keratoderma, nonepidermolytic|C0022596 colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas|C0206711 chromosome 8p11 myeloproliferative syndrome |C3150773 lung cancer susceptibility 4 |C2675479 venous malformations, multiple cutaneous and mucosal|C0241665 surfactant metabolism dysfunction, pulmonary, 2|C3833492 surfactant metabolism dysfunction, pulmonary, 1|C3816745 gaucher disease, perinatal lethal|C1833770 lung cancer susceptibility 3 |C2675497 velocardiofacial syndrome|C0220704 surfactant metabolism dysfunction, pulmonary, 5|C3711368 atrial septal defect 7, with or without av conduction defects|C0264886 surfactant metabolism dysfunction, pulmonary, 4|C3711368 surfactant metabolism dysfunction, pulmonary, 3|C3838680 colorblindness, deutan|C0858618 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome|C0039082 nicotine addiction, susceptibility to|C0028043 retinitis pigmentosa 20|C3151086 retinitis pigmentosa 27|C1834329 hyperuricemic nephropathy, familial juvenile 1|C0235419 retinitis pigmentosa 26|C1842127 retinitis pigmentosa 25|C1864446 diabetes, type 2, susceptibility to|C0011849 mean platelet volume qtl1 |C0344388 usher syndrome, type 3a|C0271097 epilepsy, idiopathic generalized, susceptibility to, 6|C0014544 retinitis pigmentosa 28|C1419614 adrenoleukodystrophy|C0162309 cerebral amyloid angiopathy|C0085220 epilepsy, idiopathic generalized, susceptibility to, 9|C0014544 hemorrhagic destruction of the brain, subependymal calcification, and cataracts|C0086543 colorectal cancer, susceptibility to, 6 |C1527249 roussy-levy syndrome|C0205713 hypertension, diastolic, resistance to|C1963138 methemoglobinemia, type iv|C0025637 paget disease, juvenile|C1368019 enlarged vestibular aqueduct, digenic|C1863752 glycogen storage disease vi|C0017925 retinitis pigmentosa 11|C1838601 retinitis pigmentosa 10|C1867299 mean platelet volume qtl2 |C0344388 nystagmus 5, congenital, x-linked |C0028738 autism, susceptibility to, x-linked 5|C0004352 d-glyceric aciduria|C0268165 aminoacylase 1 deficiency|C1835922 retinitis pigmentosa 14|C1838603 sclerosteosis|C0265301 retinitis pigmentosa 13|C1838702 adenocarcinoma of lung, somatic|C0001418 bernard-soulier syndrome, type c|C0005129 nail disorder, nonsyndromic congenital, 3, (leukonychia)|C0240182 retinitis pigmentosa 19|C1866422 hyperuricemic nephropathy, familial juvenile 2|C0235419 retinitis pigmentosa 18|C1832378 retinitis pigmentosa 17|C1833245 mental retardation, x-linked 78 |C0025362 ectopia lentis et pupillae|C1644196 spondyloepimetaphyseal dysplasia, aggrecan type|C0432211 colorectal cancer, susceptibility to, 5 |C1527249 l-2-hydroxyglutaric aciduria|C2746066 bernard-soulier syndrome, type b|C0005129 woodhouse-sakati syndrome|C0342286 retinitis pigmentosa 41|C2677516 t-cell immunodeficiency, congenital alopecia, and nail dystrophy|C0221260 intervertebral disc disease, susceptibility to|C0158252 episodic ataxia, type 7 |C1720189 obesity, susceptibility to|C0028754 retinitis pigmentosa 45|C3151066 fabry disease|C0002986 retinitis pigmentosa 44|C3151068 retinitis pigmentosa 43|C3151139 retinitis pigmentosa 42|C2751986 cleft palate with ankyloglossia|C0152415 griscelli syndrome, type 2|C0398794 retinitis pigmentosa 49|C3151059 griscelli syndrome, type 1|C0398794 major affective disorder 4 |C1970943 retinitis pigmentosa 48|C3151190 retinitis pigmentosa 47|C3151061 retinitis pigmentosa 46|C2675496 skin/hair/eye pigmentation 7, blond/brown hair|C0574766 holoprosencephaly-5|C1864827 holoprosencephaly-4|C1840528 attention deficit-hyperactivity disorder, susceptibility to|C1263846 holoprosencephaly-3|C1840529 holoprosencephaly-2|C1834877 thrombophilia, x-linked, due to factor ix defect|C0398623 holoprosencephaly-9|C1835819 fragile x syndrome|C0016667 holoprosencephaly-7|C1835820 cholangitis, primary sclerosing |C0036429 skin/hair/eye pigmentation 2, red hair/fair skin|C1849923 cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants|C0085220 meleda disease|C0025221 shwachman-bodian-diamond syndrome|C0272170 mental retardation, autosomal recessive 34|C0025362 mental retardation, autosomal recessive 35|C0025362 wagro syndrome |C2675904 factor xi deficiency, autosomal dominant|C0015523 mental retardation, autosomal recessive 36|C0025362 retinitis pigmentosa 30|C1842816 mental retardation, autosomal recessive 38|C0025362 mental retardation, autosomal recessive 39|C0025362 cerebral creatine deficiency syndrome 1|C1845862 mental retardation, x-linked 84 |C0025362 vesicoureteral reflux 7 |C3809337 cerebral creatine deficiency syndrome 2|C0574080 retinitis pigmentosa 33|C1835895 cerebral creatine deficiency syndrome 3|C2675179 loeys-dietz syndrome, type 1a|C2697932 loeys-dietz syndrome, type 1b|C2697932 retinitis pigmentosa 31|C1835923 retinitis pigmentosa 38|C3151228 retinitis pigmentosa 37|C1970163 retinitis pigmentosa 36|C1864621 retinitis pigmentosa 35|C1853214 cockayne syndrome, type a|C0009207 winchester syndrome|C0432289 pick disease|C0236642 gilbert syndrome|C0017551 thyroid dyshormonogenesis 1|C1848805 cockayne syndrome, type b|C0009207 retinitis pigmentosa 39|C3151138 mental retardation, x-linked, with short stature |C0349588 crouzon syndrome with acanthosis nigricans|C0000889 congenital anomalies of kidney and urinary tract, susceptibility to|C0000768 dyskeratosis congenita, autosomal dominant 1|C0265965 acromegaly|C0001206 hiv infection, resistance to|C0019693 chondrocalcinosis 2|C0856830 chromosome 16p13.3 duplication syndrome |C3150708 thyroid dyshormonogenesis 3|C0342194 apoa-i and apoc-iii deficiency, combined |C0162429 dyskeratosis congenita, autosomal dominant 4|C0265965 thyroid dyshormonogenesis 4|C0342195 dyskeratosis congenita, autosomal dominant 3|C0265965 thyroid dyshormonogenesis 5|C0342196 dyskeratosis congenita, autosomal dominant 2|C0265965 cone dystrophy, progressive x-linked|C0730290 nystagmus 6, congenital, x-linked|C0028738 dihydropyrimidine dehydrogenase deficiency|C1959620 glomuvenous malformations|C1841984 epilepsy, generalized, with febrile seizures plus, type 6 |C0009952 cdags syndrome |C1864186 migraine with aura, susceptibility to, 9 |C0236018 retinitis pigmentosa 62|C3280042 epilespy, generalized, with febrile seizures plus, type 8 |C0009952 renal cell carcinoma, somatic|C0007134 retinitis pigmentosa 61|C3280041 corneal endothelial dystrophy 1, autosomal dominant |C3502718 retinitis pigmentosa 60|C3151434 epilepsy, myoclonic, familial adult|C0014544 retinitis pigmentosa 67|C3809954 retinitis pigmentosa 66|C3715216 retinitis pigmentosa 65|C3552852 parietal foramina with cleidocranial dysplasia|C0008928 retinitis pigmentosa 64|C3281046 cornea plana congenita, recessive|C0344529 breast cancer, 11:22 translocation associated |C0040715 hypogonadotropic hypogonadism 8 with or without anosmia|C0003126 major affective disorder 2 |C1839839 lissencephaly, x-linked 2|C0266463 homocystinuria-megaloblastic anemia, cblg complementation type|C0002888 deafness, autosomal dominant 40 |C0011053 osteogenesis imperfecta, type iii|C0029434 amyloidosis, renal|C0002726 immunodeficiency-centromeric instability-facial anomalies syndrome 1|C0398788 ectodermal dysplasia 6, hair/nail type |C0013575 glutamate formiminotransferase deficiency|C0268609 prostate cancer, hereditary, 10 |C0376358 mononeuropathy of the median nerve, mild|C0494491 pancreatitis, chronic, protection against|C1545588 mental retardation, autosomal recessive 12|C0025362 mental retardation, autosomal recessive 13|C0025362 mental retardation, autosomal recessive 14|C0025362 mental retardation, autosomal recessive 15|C0025362 retinitis pigmentosa 51|C3150715 tumoral calcinosis, familial, normophosphatemic|C0263628 bardet-biedl syndrome 1, modifier of|C2936862 psoriasis, protection against|C1545588 cortical malformations, occipital|C2748861 mental retardation, autosomal recessive 18|C0025362 leukemia, acute lymphoblastic |C0023418 retinitis pigmentosa 56|C3150819 phelan-mcdermid syndrome|C1853490 retinitis pigmentosa 55|C3150808 retinitis pigmentosa 54|C3150691 retinitis pigmentosa 59|C3151227 major affective disorder 1 |C1852197 retinitis pigmentosa 58|C3150879 enolase deficiency |C0162429 retinitis pigmentosa 57|C3150821 congenital short bowel syndrome|C0021847 hyperleucinemia-isoleucinemia or hypervalinemia |C0268573 griscelli syndrome, type 3|C0398794 bleeding disorder, east texas type |C1458140 chromosome 1p32-p31 deletion syndrome |C3151036 cataract 39, multiple types, autosomal dominant|C0086543 epilepsy, generalized, with febrile seizures plus, type 4 |C0009952 prostate cancer, hereditary, 11 |C0376358 nemaline myopathy 6, autosomal dominant|C1836472 amyloidosis, finnish type|C0002726 colon cancer |C0007102 palmoplantar keratoderma, bothnia type |C0022596 migraine with aura, susceptibility to, 7 |C0236018 opioid dependence, susceptibility to, 1 |C3816745 myokymia|C0684219 periodontitis 1, juvenile|C0031099 mental retardation, x-linked 81 |C0025362 optic atrophy 6 |C1850281 vesicoureteral reflux 4 |C3280439 thrombophilia due to hrg deficiency|C0162429 mismatch repair cancer syndrome|C0265325 deafness, autosomal recessive 84a|C0011053 deafness, autosomal recessive 84b|C0011053 thrombocythemia, somatic|C0836924 deafness, autosomal recessive 86 |C0011053 neural tube defects, susceptibility to|C0027794 epilepsy, partial, with pericentral spikes |C0014544 thalassemias, alpha-|C0039730 frontonasal dysplasia 3|C3150706 myoclonic epilepsy, juvenile|C0014550 ring dermoid of cornea|C0011649 frontonasal dysplasia 1|C1876203 frontonasal dysplasia 2|C3150703 mandibulofacial dysostosis, guion-almeida type|C0242387 hypercalciuric hypercalcemia |C1832611 bleeding disorder, platelet-type, 13, susceptibility to|C0005779 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5|C0025362 okt4 epitope deficiency|C3151379 long qt syndrome-3|C1859062 noonan-like syndrome with loose anagen hair|C3554793 episodic ataxia, type 3 |C1720189 mental retardation, x-linked, fraxe type|C0751157 usher syndrome, type 1d/f digenic|C0271097 myopathy due to myoadenylate deaminase deficiency|C0268123 albinism, brown oculocutaneous|C0001916 osteopetrosis, autosomal dominant 1|C0029454 homocystinuria, b6-responsive and nonresponsive types|C0019880 osteopetrosis, autosomal dominant 2|C0029454 cerebrovascular disease, occlusive |C0007820 molybdenum cofactor deficiency a|C0268119 loeys-dietz syndrome, type 2a|C2697932 vesicoureteral reflux 6 |C3280441 hypoparathyroidism, autosomal recessive|C0020626 loeys-dietz syndrome, type 2b|C2697932 molybdenum cofactor deficiency c|C0162429 molybdenum cofactor deficiency b|C0268119 holt-oram syndrome|C0265264 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance|C0266470 myotonic dystrophy 2|C2931689 myotonic dystrophy 1|C0027126 schindler disease, type iii|C1836544 brain small vessel disease with hemorrhage|C0019080 skin/hair/eye pigmentation 9, brown/nonbrown eyes|C1269684 epsilon-trimethyllysine hydroxylase deficiency|C3550875 humoral hypercalcemia of malignancy |C1306459 hypothyroidism, congenital, nongoitrous, 1 275200 |C3816745 leukemia, acute promyelocytic|C0023418 pancreatitis, idiopathic|C1963198 prinzmetal angina |C0002963 intestinal pseudoobstruction, neuronal|C0021847 focal facial dermal dysplasia 4|C3554246 transposition of great arteries, dextro-looped 3|C3838680 rhizomelic chondrodysplasia punctata, type 3|C0282529 roifman syndrome |C1846059 spastic paraplegia 56, autosomal recessive|C0037772 ivic syndrome|C1327918 mental retardation, x-linked 82 |C0025362 optic atrophy 5 |C1853139 rhizomelic chondrodysplasia punctata, type 1|C0282529 vesicoureteral reflux 5 |C3280440 quebec platelet disorder|C1866423 nonsmall cell lung cancer |C0007131 sepsis, susceptibility to |C0243026 deafness, autosomal recessive 85 |C0011053 obesity, susceptibility to, bmiq4|C1843898 asperger syndrome susceptibility 2 |C0236792 colon cancer, somatic|C0007102 colorectal cancer, somatic|C1527249 lipoprotein glomerulopathy|C2673196 chloride diarrhea, congenital, finnish type|C1963091 martinez-frias syndrome|C1832443 ribose 5-phosphate isomerase deficiency|C1291609 chromosome 16p12.2-p11.2 deletion syndrome |C0039082 campomelic dysplasia|C1861922 thalassemia, hispanic gamma-delta-beta|C0039730 hypertension, essential|C1963138 peroxisome biogenesis disorder 5b|C3542026 synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses|C1862697 anonychia congenita|C0265998 leydig cell adenoma, somatic, with precocious puberty|C0034013 olmsted syndrome|C2609071 renal tubular acidosis, proximal, with ocular abnormalities|C0000768 anemia, sideroblastic, with ataxia|C0007758 fertile eunuch syndrome|C0271582 androgen insensitivity, partial, with or without breast cancer|C0006142 charcot-marie-tooth disease, type 4c|C0007959 asperger syndrome susceptibility 3 |C0236792 charcot-marie-tooth disease, type 4a|C0007959 aspartylglucosaminuria|C0268225 charcot-marie-tooth disease, type 4f|C0007959 hypothyroidism, congenital, nongoitrous, 6|C0020676 reynolds syndrome|C0748397 charcot-marie-tooth disease, type 4d|C0007959 cataract 22, autosomal recessive|C0086543 basal ganglia cancification, idiopathic, 1|C3816745 anemia, hemolytic, due to umph1 deficiency|C1849507 renal tubular acidosis, distal, autosomal recessive|C0001126 gm1-gangliosidosis, type i|C0085131 nephrogenic syndrome of inappropriate antidiuresis|C0232826 peroxisome biogenesis disorder 6b|C3553948 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11|C0015393 charcot-marie-tooth disease, type 4j|C0007959 ciliary dyskinesia, primary, 3, with or without situs inversus|C0037221 coffin-siris syndrome |C0265338 charcot-marie-tooth disease, type 4h|C0007959 diabetes mellitus, non-insulin-dependent, susceptibility to|C0011849 leukemia, t-cell acute lymphoblastoid |C0023418 microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations |C0042063 polyposis, juvenile intestinal|C0334108 foveomacular dystrophy, adult-onset, with choroidal neovascularization|C0600518 deafness, autosomal dominant 49 |C0011053 charcot-marie-tooth disease, type 1d|C0007959 peroxisome biogenesis disorder 14b|C3554055 alzheimer disease 1, familial|C2931257 charcot-marie-tooth disease, type 1c|C0007959 charcot-marie-tooth disease, type 1b|C0007959 charcot-marie-tooth disease, type 1a|C0007959 hand-foot-uterus syndrome|C1841679 keratoderma, palmoplantar, with deafness|C0011053 craniosynostosis, philadelphia type|C0010278 mannosidosis, alpha-, types i and ii|C0024748 ocular albinism, type i, nettleship-falls type|C0000921 diamond-blackfan anemia 10|C2750080 membranous glomerulonephritis, antenatal |C0017665 muscular dystrophy, congenital, megaconial type|C0026850 spondylocostal dysostosis 5, autosomal dominant|C0265343 hearing loss, cisplatin-induced, susceptibility to |C0018772 nor polyagglutination syndrome|C0039082 pitt-hopkins-like syndrome 2|C0039082 polymicrogyria, bilateral occipital |C0266464 fanconi renotubular syndrome 2|C3150652 prostate cancer, hereditary, 2, susceptibility to|C3833492 fanconi renotubular syndrome 3|C3810100 generalized epilepsy and paroxysmal dyskinesia|C0752210 raine syndrome|C1850106 spinocerebellar ataxia, autosomal recessive 12 |C0087012 charcot-marie-tooth disease, type 1f|C0007959 charcot-marie-tooth disease, type 1e|C0007959 popliteal pterygium syndrome 1|C0265259 peroxisome biogenesis disorder 3b|C3550693 leprechaunism|C0265344 leri-weill dyschondrosteosis|C0265309 diamond-blackfan anemia 2 |C1853666 vitamin k-dependent coagulation defect|C1848534 cataract 16, multiple types|C0086543 glycogen storage disease iv|C0017923 myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related|C0445223 wieacker-wolf syndrome|C1956097 epstein syndrome|C0398641 charcot-marie-tooth disease, type 2e|C0007959 hemophagocytic lymphohistiocytosis, familial, 3|C3838680 charcot-marie-tooth disease, type 2d|C0007959 hemophagocytic lymphohistiocytosis, familial, 2|C3833492 hemophagocytic lymphohistiocytosis, familial, 5|C0024291 asperger syndrome susceptibility 1 |C0236792 charcot-marie-tooth disease, type 2b|C0007959 hemophagocytic lymphohistiocytosis, familial, 4|C0024291 microphthalmia with coloboma 3|C0009363 microphthalmia with coloboma 5|C0009363 microphthalmia with coloboma 6|C0009363 woolly hair, autosomal dominant|C0343073 malaria, severe, resistance to|C0024530 diamond-blackfan anemia 11|C3554042 diamond-blackfan anemia 12|C3809888 wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome |C0039082 antley-bixler syndrome with genital anomalies and disordered steroidogenesis|C0012634 peroxisome biogenesis disorder 4b|C3553937 occult macular dystrophy|C3150833 abruptio placentae, susceptibility to |C0000832 charcot-marie-tooth disease, type 2r|C0007959 hypoalphalipoproteinemia|C0473527 charcot-marie-tooth disease, type 2i|C0007959 prolonged bleeding time, brachydactyly, and mental retardation |C0025362 inflammatory bowel disease 1|C0010346 deafness, autosomal dominant 47 |C0011053 craniofacial anomalies and anterior segment dysgenesis syndrome|C0039082 charcot-marie-tooth disease, type 2j|C0007959 holoprosencephaly-8 |C1836254 hypertrichosis, congenital generalized |C0020555 blepharophimosis-ptosis-intellectual disability syndrome|C3808692 native american myopathy|C1850625 renal agenesis|C0542519 polymicrogyria, bilateral perisylvian |C0266464 tarsal-carpal coalition syndrome|C1861305 diabetes, type 1, susceptibility to|C0011849 craniofacial-deafness-hand syndrome|C1852510 amyotrophic lateral sclerosis, susceptibility to|C0002736 hematocrit/hemoglobin quantitative trait locus 1 |C1969258 glycogen storage disease ia|C0017920 scid due to lck deficiency |C0162429 glycogen storage disease ib|C0268146 macular dystrophy, dominant cystoid |C0730292 glycogen storage disease ic|C0342749 peroxisome biogenesis disorder 9b|C2749346 autism, susceptibility to, 9 |C0004352 intrinsic factor deficiency|C1394891 hypotrichosis simplex|C1854310 abruzzo-erickson syndrome|C1844862 glycogen storage disease ii|C0017921 creatinine clearance qtl |C0812399 spinocerebellar ataxia 5|C0752123 colorectal cancer, susceptibility to|C1527249 coronary artery spasm 2, susceptibility to |C0010073 spinocerebellar ataxia 7|C0752125 spinocerebellar ataxia 6|C0752124 cystinosis, atypical nephropathic|C0022658 medulloblastoma|C0025149 spinocerebellar ataxia 8|C1837454 hydatidiform mole|C0020217 transient erythroblastopenia of childhood |C0238478 osteoporosis, involutional|C0029456 endometriosis, susceptibility to, 1 |C3816745 keratitis|C0022568 restrictive dermopathy, lethal|C3151529 arterial tortuosity syndrome|C1859726 chronic granulomatous disease, x-linked|C0018203 spinocerebellar ataxia 34 |C1851481 strabismus, susceptibility to, 1 |C3816745 metacarpal 4-5 fusion|C1839728 advanced sleep-phase syndrome, familial, 2|C3833492 robinow syndrome, autosomal recessive|C0265205 asperger syndrome susceptibility 4 |C0236792 hyperapobetalipoproteinemia, susceptibility to |C1704417 major affective disorder 6 |C1970945 episodic ataxia, type 6|C1720189 angioedema, hereditary, types i and ii|C0002994 debrisoquine sensitivity|C0020517 hypogonadotropic hypogonadism 14 with or without anosmia|C0003126 epilepsy, progressive myoclonic 2a (lafora)|C0014544 narcolepsy 1|C1834372 episodic ataxia, type 5|C1720189 holoprosencephaly-6 |C1853830 ventricular fibrillation, familial, 1|C3816745 17-alpha-hydroxylase/17,20-lyase deficiency|C1291557 hematocrit/hemoglobin quantitative trait locus 3 |C2750092 narcolepsy 7|C3280266 c4b deficiency|C3280641 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige|C0857512 osteogenesis imperfecta, type ii|C0029434 osteogenesis imperfecta, type ix|C0029434 peroxisome biogenesis disorder 7b|C3553951 organophosphate poisoning, sensitivity to |C0020517 osteogenesis imperfecta, type iv|C0029434 lumbar disc disease, susceptibility to|C0221775 diabetes insipidus, nephrogenic|C0011848 diabetes, mellitus, insulin-dependent, susceptibility to, 10|C0011849 radioulnar synostosis with amegakaryocytic thrombocytopenia|C0398639 woolly hair, autosomal recessive 2 with or without hypotrichosis|C0020678 chromosome 4q21 deletion syndrome |C3150756 nonsmall cell lung cancer, somatic |C0007131 premature ovarian failure 2b|C1845105 mental retardation, autosomal recessive 40|C0025362 spinocerebellar ataxia 1|C0752120 mental retardation, autosomal recessive 41|C0025362 myelofibrosis with myeloid metaplasia, somatic|C0027013 spinocerebellar ataxia 2|C0752121 major affective disorder 5 |C1970944 bart-pumphrey syndrome|C0266004 thiamine-responsive megaloblastic anemia syndrome|C0342287 dystonia 9|C1832855 spondyloepiphyseal dysplasia tarda with progressive arthropathy|C1837676 hematocrit/hemoglobin quantitative trait locus 2 |C1969257 stature qtl 1 |C0424639 epidermolytic hyperkeratosis|C0343110 cataract 29, coralliform |C3805409 peroxisome biogenesis disorder 8b|C3553960 episodic ataxia, type 2|C1720189 deafness, autosomal dominant 43 |C0011053 loeys-dietz syndrome, type 4|C2697932 loeys-dietz syndrome, type 3|C2697932 spinal muscular atrophy, x-linked 2, infantile|C0026847 aica-ribosiduria due to atic deficiency|C1837530 lpa deficiency, congenital |C4049711 spinocerebellar ataxia 32 |C3151343 ciliary dyskinesia, primary, 13|C0008780 ciliary dyskinesia, primary, 12|C0008780 ciliary dyskinesia, primary, 15|C0008780 ciliary dyskinesia, primary, 14|C0008780 ciliary dyskinesia, primary, 17|C0008780 ciliary dyskinesia, primary, 16|C0008780 trichorhinophalangeal syndrome, type ii |C0265255 ciliary dyskinesia, primary, 19|C0008780 mesothelioma, somatic|C1290375 tumor predisposition syndrome|C3280492 ciliary dyskinesia, primary, 18|C0008780 bosley-salih-alorainy syndrome|C1832216 diabetes mellitus, transient neonatal|C0011849 graves disease, susceptibility to, 2 |C3833492 stature qtl 2 |C0424639 pancreatic cancer/melanoma syndrome|C0025202 thanatophoric dysplasia, type ii|C1868678 5-fluorouracil toxicity|C0274576 bartter syndrome, type 4a|C0004775 muenke syndrome|C1864436 afp deficiency, congenital |C0162429 deafness, x-linked 5 |C0011053 severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type|C1514241 alzheimer disease-7 |C1853555 ciliary dyskinesia, primary, 11|C0008780 leukemia, megakaryoblastic, with or without down syndrome, somatic|C0013080 ciliary dyskinesia, primary, 10|C0008780 ciliary dyskinesia, primary, 24|C0008780 sea-blue histiocyte disease|C0036489 ciliary dyskinesia, primary, 23|C0008780 ciliary dyskinesia, primary, 26|C0008780 ciliary dyskinesia, primary, 25|C0008780 ciliary dyskinesia, primary, 28|C0008780 ciliary dyskinesia, primary, 27|C0008780 ataxia, spastic, 5, autosomal recessive|C0443306 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1|C0025362 long qt syndrome 9|C2678485 asthma|C0004096 long qt syndrome 6|C3150953 retinal disease in usher syndrome type iia, modifier of|C0271097 graves disease, susceptibility to, 1 |C3816745 breast cancer, invasive ductal|C1334278 stature qtl 3 |C0424639 bannayan-riley-ruvalcaba syndrome|C0265326 chromosome xp11.3 deletion syndrome |C1845136 hemoglobin h disease, nondeletional|C0002312 obsessive-compulsive disorder, susceptibility to|C0600104 epileptic encephalopathy, childhood-onset|C1837352 wolff-parkinson-white syndrome|C1963282 ciliary dyskinesia, primary, 20|C3842589 spinocerebellar ataxia 30 |C2936793 ciliary dyskinesia, primary, 22|C0008780 dyslexia, susceptibility to, 2|C3833492 ciliary dyskinesia, primary, 21|C0008780 dyslexia, susceptibility to, 1|C3816745 smith-mccort dysplasia|C1846431 alpha-methylacetoacetic aciduria|C1536500 danon disease|C0878677 persistent polyclonal b-cell lymphocytosis|C1847973 seborrhea-like dermatitis with psoriasiform elements|C0033860 cowden syndrome 5|C3554518 graves disease, susceptibility to, 4 |C0018213 cowden syndrome 6|C3554519 zinc deficiency, transient neonatal|C0235950 cowden syndrome 1|C0018553 cowden syndrome 2|C3552552 amyotrophic lateral sclerosis 5, juvenile recessive |C1865864 cowden syndrome 3|C3554516 stature qtl 4 |C0424639 cowden syndrome 4|C3554517 inosine triphosphatase deficiency|C0342800 epilepsy, focal, with speech disorder and with or without mental retardation|C0025362 bone mineral density qtl18, osteoporosis|C0029456 deafness, x-linked 3 |C0011053 williams-beuren syndrome |C0175702 alagille syndrome|C0085280 amyotrophic lateral sclerosis 10, with or without ftd|C0338451 holoprosencephaly-1 |C0266667 osteogenesis imperfecta, type vi|C0029434 epilepsy, progressive myoclonic 3, with or without intracellular inclusions|C0014544 cardiomyopathy, familial hypertrophic|C0020564 migraine with or without aura, susceptibility to, 5 |C0236018 hyperferritinemia-cataract syndrome|C1833213 deafness, dystonia, and cerebral hypomyelination|C2677328 myopathy, distal, tateyama type|C0026848 graves disease, susceptibility to, 3 |C3838680 cardiac conduction defect, susceptibility to|C0264886 stature qtl 5 |C0424639 chorioretinal atrophy, progressive bifocal |C4048273 leukemia, acute pre-b-cell |C0023418 aortic aneurysm, ascending, and dissection |C0333288 fish-eye disease|C0342895 nystagmus-2, autosomal dominant |C0028738 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia|C0239981 pyropoikilocytosis|C0520739 scott syndrome|C0796149 cataract 26, multiple types |C0086543 mental retardation, x-linked, syndromic 9 |C0039082 urogenital adysplasia|C2674045 myocardial infarction susceptibility |C0027051 diabetes mellitus, type i, susceptibility to|C0011849 brooke-spiegler syndrome|C1857941 rheumatoid arthritis, susceptibility to |C0003873 stature qtl 6 |C0424639 epilepsy, idiopathic generalized, susceptibility to, 7 |C0014544 stuttering, familial persistent 1 |C0038506 hypereosinophilic syndrome, idiopathic, resistant to imatinib|C0263662 spina bifida, folate-sensitive, susceptibility to|C0020517 keratosis palmoplantaris striata ii|C1852127 parkinson disease 19, juvenile-onset|C0030567 podoconiosis, susceptibility to |C1280469 liddle syndrome|C0221043 hypogonadotropic hypogonadism 12 with or without anosmia|C0003126 meacham syndrome|C1837026 cervical cancer, somatic|C0302592 ectodermal dysplasia 2, clouston type|C0013575 melanoma, cutaneous malignant, 4 |C0025202 spastic paraplegia 72, autosomal recessive|C0037772 mast cell disease|C0024899 rhabdoid predisposition syndrome 1|C2985524 proteus syndrome, somatic|C0085261 migraine with or without aura, susceptibility to, 3 |C3838680 xanthinuria, type i|C0220988 epilepsy, nocturnal frontal lobe, 1|C3816745 peroxisome biogenesis disorder 11b|C3554001 epilepsy, nocturnal frontal lobe, 3|C3838680 stature qtl 7 |C0424639 von willibrand disease, type 3|C0012634 autism susceptibility, x-linked 4 |C0004352 epilepsy, nocturnal frontal lobe, 5|C0014544 alzheimer disease-10|C1864828 left ventricular noncompaction 1, with or without congenital heart defects|C0018798 neuropathy, paraneoplastic sensory |C0442874 split-hand/foot malformation 1 with sensorineural hearing loss|C0018784 autism, susceptibility to, 18|C0004352 cayler cardiofacial syndrome |C0431406 autism, susceptibility to, 19|C0004352 forebrain defects |C1861235 alport syndrome|C1567741 diabetes mellitus, noninsulin-dependent 1|C0011849 pyruvate carboxylase deficiency|C0034341 c1s deficiency|C3151078 charcot-marie-tooth neuropathy, x-linked recessive|C1845977 amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia|C0338451 hypomagnesemia 6, renal|C0151723 non-hodgkin lymphoma, somatic|C0024305 pheochromocytoma, susceptibility to|C0031511 stature qtl 8 |C0424639 papillon-lefevre syndrome|C0030360 epilepsy, generalized, with febrile seizures plus, type 2|C0009952 epilepsy, generalized, with febrile seizures plus, type 3|C0009952 spinocerebellar ataxia, autosomal recessive 3 |C0087012 epilepsy, generalized, with febrile seizures plus, type 1|C0009952 corneal dystrophy, lattice type iiia|C0010036 long qt syndrome 1|C0035828 long qt syndrome 4|C1833154 thalassemias, beta-|C0039730 long qt syndrome 5|C1867904 squamous cell carcinoma, burn scar-related, somatic |C0445223 long qt syndrome 2|C3150943 schindler disease, type i|C1836544 alopecia universalis|C0263505 thalassemia-beta, dominant inclusion-body|C0005283 klippel-trenaunay-weber syndrome |C0022739 spastic paraplegia 32, autosomal recessive |C0037772 spinocerebellar ataxia, autosomal recessive 14|C0087012 melanoma, cutaneous malignant, 7 |C0025202 primary aldosteronism, seizures, and neurologic abnormalities|C0497552 spinocerebellar ataxia, autosomal recessive 13|C0087012 spinocerebellar ataxia, autosomal recessive 11|C0087012 migraine with or without aura, susceptibility to, 1 |C3816745 carcinoid tumor of lung |C0334299 hyperbilirubinemia, rotor type, digenic|C0311468 stuttering, familial persistent 2 |C0038506 progesterone resistance|C1849699 stature qtl 9 |C0424639 spinocerebellar ataxia, autosomal recessive 2 |C0087012 neutropenia, severe congenital 1, autosomal dominant|C0027947 lung cancer, resistance to|C1306460 epilepsy, generalized, with febrile seizures plus, type 7|C0014544 epilepsy, familial temporal lobe, 5|C0014544 erythrocytosis, somatic|C1527405 mental retardation with language impairment and autistic features|C1846135 kininogen deficiency|C0272340 blepharophimosis, epicanthus inversus, and ptosis, type 1|C0005745 homocystinuria, cbld type, variant 1|C0019880 spinocerebellar ataxia, autosomal recessive 10|C3842590 blepharophimosis, epicanthus inversus, and ptosis, type 2|C0005745 epilepsy, familial temporal lobe, 1|C3816745 otosclerosis 4 |C1969046 spondyloepimetaphyseal dysplasia, missouri type|C0432211 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia|C0026010 orofacial cleft 12 |C2748505 glycogen storage disease xiii|C2752027 harderoporphyria|C0342859 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation|C0025362 skin/hair/eye pigmentation 6, blue/green eyes|C3812802 alzheimer disease 17 |C3554452 mental retardation, x-linked, syndromic 32|C0039082 methylmalonate semialdehyde dehydrogenase deficiency|C3279840 kanzaki disease|C1836522 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome|C0039082 otosclerosis 3 |C1842353 sfm syndrome, somatic mosaic|C3854181 polycystic kidney disease, infantile severe, with tuberous sclerosis |C0041341 cortical dysplasia-focal epilepsy syndrome|C1864887 orofacial cleft 13 |C3151222 skin/hair/eye pigmentation 5, black/nonblack hair|C0574767 combined oxidative phosphorylation deficiency 19|C3810055 pancreatic lipase deficiency|C3280527 autonomic nervous system dysfunction |C4016022 spinocerebellar ataxia, autosomal recessive 4 |C0087012 combined oxidative phosphorylation deficiency 12|C3554079 diabetes mellitus, insulin-dependent, 22|C0011849 46xy sex reversal 2, dosage-sensitive|C0020517 c5 deficiency|C0343047 combined oxidative phosphorylation deficiency 11|C3554067 alzheimer disease 16 |C2677888 cholestasis, progressive familial intrahepatic 2|C0008370 combined oxidative phosphorylation deficiency 14|C3554168 diabetes mellitus, insulin-dependent, 20|C3842589 cholestasis, progressive familial intrahepatic 3|C0008370 combined oxidative phosphorylation deficiency 13|C3554129 combined oxidative phosphorylation deficiency 16|C3809339 cholestasis, progressive familial intrahepatic 1|C0008370 combined oxidative phosphorylation deficiency 15|C3554182 combined oxidative phosphorylation deficiency 18|C3810001 immunodeficiency, common variable, 8, with autoimmunity|C0004368 combined oxidative phosphorylation deficiency 17|C3809526 alternating hemiplegia of childhood 2|C0338488 deafness, autosomal recessive 83 |C0011053 escobar syndrome|C0265261 narcolepsy 2 |C0027404 pleuropulmonary blastoma|C1266144 combined oxidative phosphorylation deficiency 10|C3553529 otosclerosis 2 |C1854022 melanoma, cutaneous malignant, 1 |C0025202 amyotrophic lateral sclerosis 20|C3715156 decr deficiency |C0162429 chromosome 7q11.23 duplication syndrome |C1857844 diabetes mellitus, insulin-dependent, 3 |C3838680 asplenia, isolated congenital|C0600031 meier-gorlin syndrome 1|C1868684 combined sap deficiency|C2673635 meier-gorlin syndrome 2|C3151097 meier-gorlin syndrome 3|C3151113 meier-gorlin syndrome 4|C3151120 meier-gorlin syndrome 5|C3151126 mental retardation, x-linked, syndromic 13|C0039082 amyotrophic lateral sclerosis 3 |C1847735 mental retardation, x-linked, syndromic 14|C0039082 adenocarcinoma of lung, response to tyrosine kinase inhibitor in|C1704632 renal cell carcinoma, papillary|C0007134 amyotrophic lateral sclerosis 2, juvenile|C0002736 lissencephaly 1|C0431375 narcolepsy 3 |C1836907 otosclerosis 1 |C0029899 precocious puberty, male|C0034013 noonan syndrome 7|C3150970 hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase|C1291444 noonan syndrome 6|C2750732 neuromyotonia and axonal neuropathy, autosomal recessive|C0270921 noonan syndrome 5|C1969057 noonan syndrome 4|C1853120 diabetes mellitus, insulin-dependent, 4 |C0011849 spondyloepimetaphyseal dysplasia|C0432211 hemangioblastoma, cerebellar, somatic |C0206734 lissencephaly 3|C1969029 split-hand/foot malformation 5 |C1847622 lissencephaly 5|C3554657 noonan syndrome 8|C3809233 spinocerebellar ataxia, autosomal recessive 6 |C0087012 auditory neuropathy, autosomal dominant, 1|C2732267 hyperostosis, endosteal|C0020492 noonan syndrome 3|C1860991 neurodegeneration with brain iron accumulation 2b|C4055506 myasthenia, congenital, with tubular aggregates 1|C0333768 noonan syndrome 1|C0041409 cataract 34, multiple types |C0086543 diabetes mellitus, insulin-resistant, with acanthosis nigricans|C0000889 epilepsy, childhood absence, susceptibility to, 5|C1689985 epilepsy, childhood absence, susceptibility to, 4|C1689985 hartsfield syndrome|C1845146 acrocallosal syndrome|C0796147 epilepsy, childhood absence, susceptibility to, 2|C3833492 amyotrophic lateral sclerosis 19|C3715155 sialidosis, type ii|C0268226 amyotrophic lateral sclerosis 18|C3553719 amyotrophic lateral sclerosis 17|C1836076 deafness, autosomal recessive 81 |C0011053 colorectal cancer with chromosomal instability |C1257806 chromosome 2q31.2 deletion syndrome |C2676724 dystonia, myoclonic|C0013421 factor xi deficiency, autosomal recessive|C0015523 systemic lupus erythematosus, susceptibility to, 1|C3816745 thrombophilia due to antithrombin iii deficiency|C0272375 heme oxygenase-1 deficiency|C1841651 systemic lupus erythematosus, susceptibility to, 2|C3833492 narcolepsy 4 |C0027404 osteogenesis imperfecta, type viii|C0029434 amyotrophic lateral sclerosis 12|C3150692 hemophagocytic lymphohistiocytosis, familial|C0024291 amyotrophic lateral sclerosis 11|C2675491 epilepsy, childhood absence, susceptibility to, 6|C1689985 leopard syndrome 1|C0175704 hyperinsulinemic hypoglycemia, familial, 1|C3816745 leopard syndrome 3|C3150971 leopard syndrome 2|C1969056 hyperinsulinemic hypoglycemia, familial, 3|C3838680 leukoencephalopathy with vanishing white matter|C0270612 prolonged bleeding time, brachydactyly and mental retardation |C0025362 acrokeratosis verruciformis|C0265971 guttmacher syndrome|C1867801 hyperinsulinemic hypoglycemia, familial, 2|C3833492 nephropathy due to cfhr5 deficiency|C3553720 hyperinsulinemic hypoglycemia, familial, 5|C1864903 hyperinsulinemic hypoglycemia, familial, 4|C1864903 microphthalmia with cataract 1 |C0086543 hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency|C0268523 neural tube defects|C0027794 mitochondrial dna depletion syndrome 8b (mngie type)|C0872218 corneal dystrophy, gelatinous drop-like|C0010036 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6|C0948051 brachiootic syndrome 3|C0039082 amyloidosis, primary localized cutaneous, 1|C0002726 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5|C0948051 amyloidosis, primary localized cutaneous, 2|C0002726 mental retardation, x-linked 89 |C0025362 hyperinsulinemic hypoglycemia, familial, 7|C1864903 otitis media, susceptibility to |C0029882 immunodeficiency 9|C2748568 immunodeficiency 8|C3809383 preeclampsia, susceptibility to|C0032914 bladder cancer susceptibility|C0005684 char syndrome|C1868570 obesity|C0028754 osteogenesis imperfecta, type xi|C0029434 narcolepsy 5 |C0027404 osteogenesis imperfecta, type xv|C0029434 alzheimer disease, type 3, with spastic paraparesis and unusual plaques|C0333463 paget disease of bone|C0029401 diabetes mellitus, insulin-dependent, 6 |C0011849 dementia, frontotemporal|C0011265 stomatocytosis i|C1861455 branched-chain ketoacid dehydrogenase kinase deficiency|C3554078 gaba-transaminase deficiency|C0342708 hypothalamic hamartomas, somatic|C0342418 acropectorovertebral dysplasia |C1863307 aphasia, primary progressive|C0003537 adenomatous polyposis coli|C0032580 boomerang dysplasia|C0432201 pyruvate dehydrogenase lipoic acid synthetase deficiency|C3280887 wilms tumor 2|C3887743 psoriasis susceptibility 2|C1864497 mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations|C1838626 psoriasis susceptibility 1|C1867449 colonic adenoma recurrence, reduced risk of|C0850572 mental retardation, x-linked, syndromic, martin-probst type|C0039082 narcolepsy 6 |C0027404 neutropenia, severe congenital, x-linked|C0027947 ohdo syndrome, x-linked|C0796094 chronic infections, due to mbl deficiency|C3280586 digital clubbing, isolated congenital|C0009080 aortic valve disease 2|C3542024 coronary artery spasm 1, susceptibility to |C0010073 diabetes mellitus, insulin-dependent, 7 |C0011849 schwannomatosis|C1335929 seckel syndrome 3 |C1837590 alternating hemiplegia of childhood|C0338488 methylmalonic aciduria, mut(0) type|C3842591 severe combined immunodeficiency, x-linked|C0085110 fatty liver disease, nonalcoholic, susceptibility to, 2 |C3833492 trichorhinophalangeal syndrome, type iii|C0265255 glucose/galactose malabsorption|C0268186 fatty liver disease, nonalcoholic, susceptibility to, 1 |C3816745 retinitis punctata albescens|C1405854 amyotrophic lateral sclerosis 7 |C1842674 von hippel-lindau syndrome, modifier of|C0019562 novelty seeking personality|C0003944 prostate cancer, hereditary, 14 |C0376358 acromesomelic dysplasia, hunter-thompson type|C2930970 hypophosphatemic rickets with hypercalciuria|C0020438 prostate cancer, hereditary, 15 |C0376358 chromosome 13q14 deletion syndrome |C3151302 carotid stenosis, susceptibility to |C0007282 diabetes mellitus, insulin-dependent, 8 |C0011849 acrocapitofemoral dysplasia|C1843096 lysosomal acid phosphatase deficiency|C1876163 anauxetic dysplasia|C1846796 asthma, nocturnal, susceptibility to|C0004096 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant|C0027404 dejerine-sottas disease, autosomal recessive|C0011195 peroxisome biogenesis disorder 11a (zellweger)|C0282528 chondrocalcinosis with early-onset osteoarthritis |C1846845 cone-rod dystrophy 17 |C3554610 interleukin-2 receptor, alpha chain, deficiency of|C0162429 lymphoma, b-cell non-hodgkin, somatic |C0024305 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic|C0039082