--- a
+++ b/data/OMIM_umls_id_diso
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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