2630182|N|myasthenia gravis, neonatal transient 7677153|Y|acropectorovertebral dysplasia 1339456|N|alpha-actinin-3 deficiency] ; [elite sprint athletic performance 420519|Y|urolithiasis, 2,8-dihydroxyadenine 7035335|N|alcoholism, susceptibility to 697608|Y|aneurysm, intracranial berry, 1 9568760|Y|anosmia, isolated congenital 1694723|N|blood group, indian system 6606438|N|alpha-1-antichymotrypsin deficiency ; cerebrovascular disease, occlusive 3663508|Y|antithrombin iii deficiency 2903847|N|apoa-i and apoc-iii deficiency, combined ; hypertriglyceridemia, one form ; hypoalphalipoproteinemia ; corneal clouding, autosomal recessive ; amyloidosis, 3 or more types 8989235|N|gynecomastia, familial, due to increased aromatase activity ; virilization, maternal and fetal, from placental aromatase deficiency ; aromatase deficiency 9683614|Y|atherosclerosis, susceptibility to 7795606|Y|atrophia areata 1923524|Y|leukemia/lymphoma, b-cell, 3 8988030|Y|lymphoma, b-cell 12161655|N|resting heart rate], ; {congestive heart failure, susceptibility to 77067|N|hemodialysis-related amyloidosis 8882867|Y|blood group, dombrock 3822519|Y|malaria, resistance to}, ; [blood group, gerbich 8202485|Y|blood group, landsteiner-wiener 8329718|Y|rh-negative blood type 9090377|N|hypervalinemia or hyperleucine-isoleucinemia 7897626|Y|hypokalemic periodic paralysis, ; {malignant hyperthermia susceptibility 5}, ; {thyrotoxic periodic paralysis, susceptibility to 8328452|Y|muscular dystrophy, limb-girdle, type 2a 2823605|Y|lynch cancer family syndrome ii 7780664|Y|colorectal cancer ; hepatoblastoma ; pilomatricoma, ; ovarian carcinoma, endometrioid type ; hepatocellular carcinoma 7913553|N|spastic paraplegia-13 7989465|Y|cetp deficiency], ; {longevity, exceptional}, ; hyperalphalipoproteinemia 1505988|N|epilepsy, nocturnal frontal lobe, 1, ; {nicotine addiction, susceptibility to 9758599|N|cleft palate, isolated 2037056|N|metaphyseal chondrodysplasia, schmid type ; spondylometaphyseal dysplasia, japanese type 9792860|Y|alport syndrome, autosomal recessive, ; hematuria, familial benign 12657595|N|osteogenesis imperfecta, type i, ; osteogenesis imperfecta, type ii, ; osteogenesis imperfecta, type iii, ; osteogenesis imperfecta, type iv, ; ehlers-danlos syndrome, type i, ; ehlers-danlos syndrome, type vii, ; osteoporosis, ; {dissection of cervical arteries} ; caffey disease 1572643|N|epiphyseal dysplasia, multiple, col9a1-related 11506412|Y|bethlem myopathy, ; ullrich scleroatonic muscular dystrophy 11689488|Y|fuchs endothelial corneal dystrophy, ; corneal dystrophy, hereditary polymorphous posterior, 2 7833911|Y|stickler syndrome, type iii, ; osmed syndrome, ; weissenbacher-zweymuller syndrome, ; deafness, autosomal dominant 13 3022382|N|copd, rate of decline of lung function in 9069116|N|osteolysis, idiopathic, saudi type 3180845|N|c1q deficiency, type c 14694201|Y|cr1 deficiency ; {?sle susceptibility} ; [blood group, knops system 1684952|N|c8 deficiency, type ii 11875045|Y|cataract, zonular pulverulent-3 9450854|Y|corneal dystrophy, crystalline, schnyder 8188299|N|coumarin resistance, ; {nicotine addiction, protection from 7482767|N|craniosynostosis, type 2, ; parietal foramina 1, ; parietal foramina with cleidocranial dysplasia 708891|Y|creatine kinase, brain type, ectopic expression of 9023351|Y|cataract, zonular central nuclear, autosomal dominant ; cataract, congenital progressive, autosomal recessive ; cataract, autosomal dominant nuclear 8004095|Y|cataracts, punctate, progressive juvenile-onset ; cataract, crystalline aculeiform 12471561|Y|deafness, autosomal dominant 40 8275715|Y|melanoma 12145647|N|hiv-1, susceptibility to} ; {graft-versus-host disease, protection against} ; {rheumatoid arthritis, progression of 8682871|Y|keratosis palmoplantaris striata i 6933553|N|benzene toxicity, susceptibility to} ; {leukemia, post-chemotherapy, susceptibility to 3341383|N|anemia, megaloblastic, due to dhfr deficiency 7643093|N|autonomic nervous system dysfunction ; [novelty seeking personality 10190538|Y|supravalvar aortic stenosis, ; williams-beuren syndrome, ; cutis laxa, ad 7809065|Y|eosinophil peroxidase deficiency 9508242|Y|eosinophilia, familial 7915936|Y|hypercholesterolemia, familial, due to ldlr defect, modifier of 7592848|Y|stomatocytosis i 1280334|N|dicarboxylicaminoaciduria 9312129|Y|hemolytic-uremic syndrome, ; factor h and factor h-like 1 ; {macular degeneration, age-related, 1}, ; nephropathy, chronic hypocomplementemic 7566174|N|systemic lupus erythematosus, susceptibility 6589621|N|iron overload, autosomal dominant 957379|Y|fibrodysplasia ossificans progressiva 1310071|N|lymphedema, hereditary i, ; hemangioma, capillary infantile, somatic 14722620|N|congenital anomalies, susceptibility to 12177782|Y|fumarase deficiency, ; multiple cutaneous and uterine leiomyomata,, ; leiomyomatosis and renal cell cancer 9845520|Y|vitamin k-dependent coagulation defect 7214257|N|hyperinsulinism-hyperammonemia syndrome 9389750|N|glucose transport defect, blood-brain barrier 1131421|Y|hemolytic anemia due to glutathione peroxidase deficiency 6088387|Y|goiter, multinodular, 1 9835620|N|pulmonary alveolar proteinosis 14639529|Y|basal cell carcinoma ; parkes weber syndrome, ; capillary malformation-arteriovenous malformation 2902634|N|pituitary acth-secreting adenoma ; ventricular tachycardia, idiopathic 10486325|Y|osteoarthritis of distal interphalangeal joints 1428941|N|thalassemias, alpha- ; methemoglobinemias, alpha- ; erythremias, alpha- ; heinz body anemias, alpha 7558873|N|hpfh, nondeletion type g 15057983|Y|hernia, congenital diaphragmatic 1317015|N|ankylosing spoldylitis, susceptibility to}, ; {stevens-johnson syndrome, carbamazepine-induced, susceptibility to}, ; {abacavir hypersensitivity, susceptibility to 11050177|Y|beryllium disease, chronic, susceptibility to 7596412|N|radioulnar synostosis with amegakaryocytic thrombocytopenia 2574852|N|hand-foot-uterus syndrome, ; guttmacher syndrome 11390985|N|hypodontia, autosomal dominant, ; hypodontia with orofacial cleft, ; witkop syndrome, ; cleft lip/palate, nonsyndromic 9521597|Y|asthma, atopic, susceptibility to 8673141|Y|epidermolysis bullosa, junctional, with pyloric stenosis 10084586|Y|leprechaunism, ; rabson-mendenhall syndrome, ; diabetes mellitus, insulin-resistant, with acanthosis nigricans 1834696|N|gastric cancer risk after h. pylori infection 9856950|Y|asthma, susceptibility to}, ; {allergic rhinitis, susceptibility to 7515493|N|polycythemia vera, ; thrombocythemia, essential, ; myelofibrosis, idiopathic 10971341|Y|epidermolysis bullosa simplex, koebner, dowling-meara, and weber-cockayne types, , , ; epidermolysis bullosa simplex, recessive 10571744|Y|pachyonychia congenita, jackson-lawler type, ; steatocystoma multiplex 8122836|Y|klippel-feil syndrome with laryngeal malformation 3356163|N|lactoferrin-deficient neutrophils 903151|N|langer-giedion syndrome 3875152|Y|leukemia, acute t-cell 12654249|Y|leukemia, chronic myeloid, ; leukemia, acute lymphocytic 14645638|Y|coronary artery disease, susceptibility to} ; [lpa deficiency, congenital 3547652|N|hypogonadotropic hypogonadism due to gnrh deficiency 8413611|N|scid due to lck deficiency 10802646|Y|cataract, polymorphic and lamellar 1774061|Y|malignant hyperthermia susceptibility 2 10973258|Y|obesity, severe, susceptibility to 14691188|Y|malignant melanoma, cutaneous 9677380|N|waardenburg syndrome, type iia, ; waardenburg syndrome/ocular albinism, digenic, ; tietz syndrome 14638973|Y|charcot-marie-tooth disease, type 1b, ; dejerine-sottas syndrome, ; neuropathy, congenital hypomyelinating, ; charcot-marie-tooth disease, type 2j, ; roussy-levy syndrome, ; charcot-marie-tooth disease, type 2i, ; charcot-marie-tooth disease, dominant intermediate 3 2525515|Y|leukemia, transient, of down syndrome 12614751|Y|myopia-2 8282798|Y|cardiomyopathy, familial hypertrophic, 1, ; ?central core disease, one form ; cardiomyopathy, dilated, ; myopathy, myosin storage, ; myopathy, laing distal 12058346|Y|griscelli syndrome, type 1 12404107|Y|cardiomyopathy, hypertrophic, mid-left ventricular chamber type, ; cardiomyopathy, familial hypertrophic, 10 2784124|N|cardiomopathy, familial hypertrophic, 8 4003034|Y|neuralgic amyotrophy with predilection for brachial plexus 9019408|N|obestiy with impaired prohormone processing 9931323|Y|amyotrophic lateral sclerosis, susceptibility to 12393795|Y|charcot-marie-tooth disease, type 2e, ; charcot-marie-tooth disease, type 1f 8752280|N|whim syndrome, ; myelokathexis, isolated 7558036|N|hypertension, susceptibility to}, ; {malaria, resistance to 10707987|Y|parkinson disease, familial, ; parkinson disease 4, autosomal dominant lewy body, ; dementia, lewy body 8478011|N|orthostatic intolerance 3314503|Y|hemifacial microsomia 10590083|Y|leukemia, acute myeloid, with eosinophilia 12640453|Y|multiple endocrine neoplasia iia, ; medullary thyroid carcinoma, ; multiple endocrine neoplasia iib, ; hirschsprung disease, ; colonic aganglionosis, total, with small bowel involvement ; central hypoventilation syndrome, congenital 9441676|N|1p36 deletion syndrome 8168088|N|tetra-amelia, autosomal recessive 3036086|N|colonic adenoma recurrence, reduced risk of 11093271|Y|optic nerve coloboma with renal disease, ; renal hypoplasia, isolated 7916578|N|Coronary artery disease, susceptibility to} ; {coronary artery spasm, susceptibility to 11082062|N|hemophagocytic lymphohistiocytosis, familial, 2 7600573|Y|zellweger syndrome-3 ; refsum disease, infantile form 11443177|N|hyperapobetalipoproteinemia, susceptibility to 15201433|N|cardiomyopathy, idiopathic dilated 9288104|Y|colorectal cancer, sporadic 9384616|Y|glycogenosis, hepatic, autosomal 2558067|N|phosphoserine phosphatase deficiency 6938920|Y|phosphorylase kinase deficiency of liver and muscle, autosomal recessive 7604000|N|naxos disease 12023981|N|gastrointestinal stromal tumor, somatic, ; hypereosinophilic syndrome, idiopathic, resistant to imatinib 8845167|Y|episodic ataxia/myokymia syndrome 7736789|N|h. pylori infection, susceptibility to 9700203|Y|crouzon syndrome, ; jackson-weiss syndrome, ; beare-stevenson cutis gyrata syndrome, ; pfeiffer syndrome, ; apert syndrome, ; saethre-chotzen syndrome, ; craniosynostosis, nonspecific ; gastric cancer, somatic, ; craniofacial-skeletal-dermatologic dysplasia 8283361|Y|pulmonary alveolar proteinosis, congenital 10603472|N|severe combined immunodeficiency, b cell-negative, ; omenn syndrome 11326284|Y|leber congenital amaurosis-2, ; retinitis pigmentosa-20 9746795|Y|anemia, hemolytic, rh-null, regulator type, ; rh-mod syndrome 9359045|Y|silver-russell syndrome 12919952|Y|ventricular tachycardia, stress-induced polymorphic, ; arrhythmogenic right ventricular dysplasia 2 12539047|Y|migraine, familial hemiplegic, 2, ; alternating hemiplegia of childhood 2714793|N|glucose/galactose malabsorption 1325650|N|seizures, afebrile, ; seizures, benign familial neonatal-infantile 14517545|N|anophthalmia 3 11792860|N|hiv-1 disease, delayed progression of} ; {hiv-1 disease, rapid progression of 2301470|N|thrombocytopenia, paris-trousseau type 14500362|Y|carney complex, type 1, ; myxoma, intracardiac, ; thyroid carcinoma, papillary, ; pigmented adrenocortical disease, primary isolated, ; adrenocortical tumor, somatic 2242360|Y|preeclampsia 10391250|N|leukemia, philadelphia chromosome-positive, resistant to imatinib 10430610|Y|thyroid hormone resistance, ; thyroid hormone resistance, autosomal recessive 8317497|N|colon cancer ; colorectal cancer, hereditary nonpolyposis, type 6 ; esophageal cancer, ; loeys-dietz syndrome 11251583|Y|ichthyosis, lamellar, autosomal recessive, ; ichthyosiform erythroderma, congenital, ; self-healing collodion baby 11555628|Y|down syndrome 8088841|N|colorblindness, tritan 8825654|N|cardiomyopathy, familial hypertrophic 9714088|Y|cardiomyopathy, familial hypertrophic, 2, ; cardiomyopathy, dilated, 1d 12709789|Y|complex iii, mitochondrial respiratory chain, deficiency of, due to mutation in uqcrb 9916796|Y|renal tubular acidosis with deafness 8290084|Y|vestibulopathy, familial 12506096|Y|vitreoretinopathy, neovascular inflammatory 11780124|N|bipolar disorder, susceptibility to 8845838|Y|vlcad deficiency 11174635|Y|aspartylglucosaminuria 2550934|Y|breast cancer, ductal 11836359|Y|corneal dystrophy and perceptive deafness 1 10963600|Y|diabetes mellitus, insulin-dependent-1 7066206|Y|congenital dyserythropoietic anemia ii 1733668|N|kininogen deficiency] ; high-molecular-weight kininogen deficiency ; fitzgerald factor deficiency 694428|Y|fletcher factor deficiency ; prekallikrein deficiency 7816517|Y|fructosuria 8314586|N|propionicacidemia 8954797|Y|glycogen storage disease iiia ; glycogen storage disease iiib 7307322|Y|histidinemia 3591841|Y|homocystinuria, b6-responsive and nonresponsive types ; thrombosis, hyperhomocysteinemic 11074487|Y|urofacial syndrome 11836356|Y|van buchem disease 8102908|N|slow acetylation 1598911|Y|malaria, intensity of infection 961797|Y|mannosidosis, alpha-, types i and ii 2230839|Y|meckel syndrome, type 1 10738517|Y|mucopolysaccharidosis ih, ; mucopolysaccharidosis is, ; mucopolysaccharidosis ih/s 6701468|Y|factor xi deficiency, autosomal recessive ; factor xi deficiency, autosomal dominant 8054975|Y|male germ cell tumor 8964509|N|thromboxane synthase deficiency 6467612|Y|thymine-uraciluria ; {fluorouracil toxicity, sensitivity to 12730719|Y|tibial hemimelia 7851880|Y|tyrosinemia, type iii 10234513|Y|usher syndrome, type iib 8589515|N|rett syndrome, ; mental retardation, x-linked, with progressive spasticity, ; rett syndrome, preserved speech variant, ; mental retardation, x-linked, ; ppm-x syndrome, ; angelman syndrome, ; autism, x-linked 1684092|Y|alpha-thalassemia/mental retardation syndrome, ; juberg-marsidi syndrome, ; smith-fineman-myers syndrome, ; alpha-thalassemia myelodysplasia syndrome, somatic, ; chudley-lowry syndrome, ; sutherland-haan syndrome-like 10441586|Y|simpson-golabi-behmel syndrome, type 1, ; wilms tumor, somatic 7573127|Y|mental retardation, x-linked 20 7900190|N|social cognition 9199568|Y|cone dystrophy, progressive x-linked, 2 2126489|Y|epilepsy, female restricted, with mental retardation 7543319|N|mental retardation, x-linked nonspecific 12750858|Y|diabetes mellitus, insulin-dependent, x-linked 9731525|Y|mental retardation, x-linked 30 8230164|Y|mental retardation, x-linked, 21 9598324|N|mental retardation, x-linked nonspecific, 63 9598718|Y|alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis 1425792|Y|testicular germ cell tumor 12605440|Y|mental retardation, x-linked, shashi type 11050621|Y|mental retardation, x-linked-72 11062471|Y|night blindness, congenital stationary, type 1 10599684|Y|image syndrome 7506482|Y|agammaglobulinemia, type 1, x-linked ; xla and isolated growth hormone deficiency 3502688|Y|agammaglobulinemia, type 2, x-linked 11260062|Y|thrombocytosis, familial x-linked 12669065|Y|autism, x-linked, ; asperger syndrome 11391653|Y|microphthalmia, colobomatous 11562927|Y|mental retardation, x-linked, with short stature 11807862|Y|mental retardation, x-linked nonspecific, 42 8045746|Y|properdin deficiency, x-linked 10892847|Y|retinitis pigmentosa 23 2063914|Y|stocco dos santos x-linked mental retardation syndrome 12949971|Y|mental retardation, x-linked 77 11078477|Y|coronary heart disease, susceptibility to, 3 1710153|Y|chronic granulomatous disease, x-linked 7672145|Y|menopause, natural, age at, qtl 10398246|Y|mental retardation, x-linked, 44 7977467|Y|pigment disorder, reticulate 10866822|Y|fabry disease 3341327|Y|arthrogryposis, x-linked (spinal muscular atrophy, infantile, x-linked 1674639|Y|charcot-marie-tooth neuropathy, x-linked recessive, 2 8464840|Y|mental retardation, x-linked, syndromic-5, with dandy-walker malformation, basal ganglia disease, and seizures 2564327|Y|gonadotropin deficiency ; ?cryptorchidism 2387581|N|hemophilia a 11418623|N|severe combined immunodeficiency, x-linked, ; combined immunodeficiency, x-linked, moderate 7541938|Y|mental retardation, x-linked, fraxe type 837562|Y|mental retardation-skeletal dysplasia 1757098|Y|otopalatodigital syndrome, type i ; otopalatodigital syndrome, type ii 10690843|Y|retinitis pigmentosa-6 2899541|N|epilepsy, x-linked, with variable learning disabilities and behavior disorders 11152658|Y|androgen insensitivity, ; spinal and bulbar muscular atrophy of kennedy, ; prostate cancer ; perineal hypospadias ; breast cancer, male, with reifenstein syndrome ; {prostate cancer, susceptibility to 12917640|Y|renal cell carcinoma, papillary, 1 9497244|Y|cardiac valvular dysplasia-1 9384609|Y|azoospermia 9099848|Y|bare lymphocyte syndrome, type ii, complementation group a, ; {rheumatoid arthritis, susceptibility to}, ; {multiple sclerosis, susceptibility to 7789959|N|neurofibrosarcoma ; {prostate cancer, susceptibility to 7913714|Y|diabetes mellitus, insulin-dependent, neonatal 12771381|N|blood group gil 10573019|Y|scid, autosomal recessive, t-negative/b-positive type 670940|Y|waardenburg syndrome, type 2b 11432960|Y|exostoses, multiple, type 3 8755926|Y|spinocerebellar ataxia-4 14745083|Y|spinocerebellar ataxia-5 2047873|N|colorectal cancer, hereditary nonpolyposis, type 3 7894481|Y|polycystic kidney disease, infantile severe, with tuberous sclerosis 12136071|Y|cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 8076834|N|zellweger syndrome 11013134|Y|2-methylbutyrylglycinuria 7573054|Y|diabetes mellitus, insulin-dependent, 4 14985289|N|retinitis pigmentosa, autosomal recessive ; retinitis pigmentosa, autosomal dominant 12754703|N|parkinson disease, susceptibility to 7795595|N|epilepsy with grand mal seizures on awakening, ; epilepsy, juvenile myoclonic, ; epilepsy, childhood absence, ; epilepsy, juvenile absence 11389301|Y|myopathy due to cpt ii deficiency, ; cpt deficiency, hepatic, type ii, ; cpt ii deficiency, lethal neonatal 12191483|Y|melanoma, cutaneous malignant, susceptibility to} ; {breast cancer, susceptibility to 11709755|Y|cancer susceptibility} ; endometrial carcinoma ; colorectal cancer, hereditary nonpolyposis, type 5 ; ovarian cancer, endometrial type 12148092|N|long qt syndrome-7 15208781|Y|diabetes mellitus, insulin-dependent, susceptibility to}, ; {rheumatoid arthritis, susceptibility to}, ; {systemic lupus erythematosus, susceptibility to 10781062|Y|ceroid lipofuscinosis, neuronal-1, infantile, ; ceroid lipofuscinosis, neuronal, variant juvenile type, with granular osmiophilic deposits 9915958|Y|hypercalciuric hypercalcemia, type iii 8661101|N|specific granule deficiency 7668251|Y|orofacial cleft-3 11231969|Y|liddle syndrome, ; pseudohypoaldosteronism, type i 12669034|Y|bronchial asthma 12379851|N|t-cell immunodeficiency, congenital alopecia, and nail dystrophy 11827995|Y|cardiomyopathy, familial hypertrophic with wolff-parkinson-white syndrome 10480374|Y|cataract, zonular pulverulent-1 12364461|N|delayed sleep phase syndrome, susceptibility to 8872466|Y|persistent mullerian duct syndrome, type ii 10571183|N|persistent mullerian duct syndrome, type i 8842741|Y|glaucoma 3, primary infantile, b 12483305|Y|pseudohypoaldosteronism type i, autosomal dominant, ; hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy 8589694|Y|arrhythmogenic right ventricular dysplasia-2 8081366|N|rheumatoid arthritis, susceptibility to 3203381|N|dyschromatosis symmetrica hereditaria 10072431|Y|iridogoniodysgenesis, ; anterior segment mesenchymal dysgenesis ; rieger anomaly ; axenfeld anomaly ; iris hypoplasia and glaucoma 8703060|Y|pycnodysostosis 9525973|N|dubin-johnson syndrome 9342192|Y|epilepsy, progressive myoclonic 1 7673400|Y|hypocalciuric hypercalcemia, type i, ; hyperparathyroidism, neonatal, ; hypocalcemia, autosomal dominant, ; hypocalcemia, autosomal dominant, with bartter syndrome 11431690|Y|muscular dystrophy, limb-girdle, type ic, ; rippling muscle disease, ; creatine phosphokinase, elevated serum, ; creatine phosphokinase, elevated serum, ; myopathy, distal, with decreased caveolin 3 ; cardiomyopathy, familial hypertrophic 8636409|Y|muscular dystrophy with epidermolysis bullosa simplex, ; epidermolysis bullosa simplex, ogna type 12700602|N|hereditary hemorrhagic telangiectasia-2 8733140|Y|cataract, polymorphic congenital 9620294|Y|basal cell nevus syndrome, ; basal cell carcinoma, somatic, ; holoprosencephaly-7 8441417|Y|polycystic kidney disease, adult type i 8989248|Y|diabetes mellitus, insulin-dependent, 12 9931421|Y|b-cell non-hodgkin lymphoma, high-grade 10481911|Y|muscular dystrophy, limb-girdle, type 2f, ; cardiomyopathy, dilated, 1l 7716547|N|cardiomyopathy, dilated, with ventricular tachycardia 9186514|Y|squamous cell carcinoma, head and neck 206343|Y|rhabdoid tumors ; rhabdoid predisposition syndrome, familial 9027511|N|surfactant deficiency, neonatal 12066188|Y|holt-oram syndrome 9288101|Y|angelman syndrome 8981961|Y|diabetes mellitus, insulin-dependent, 15 12563260|N|cowden disease, ; lhermitte-duclos syndrome ; {prostate cancer}, ; endometrial carcinoma ; thyroid carcinoma, follicular, ; bannayan-zonana syndrome, ; bannayan-riley-ruvalcaba syndrome, ; oligodendroglioma, ; meningioma, ; vater association with hydrocephalus, ; proteus syndrome 12459784|N|muscle hypertrophy 11748154|Y|septooptic dysplasia, ; pituitary hormone deficiency, combined, hesx1-related 3451231|Y|hypothyroidism, congenital 7487879|N|d-bifunctional protein deficiency 8642248|Y|bare lymphocyte syndrome, type ii, complementation group c, ; bare lymphocyte syndrome, type ii, complementation group e 11683410|N|alagille syndrome, ; tetralogy of fallot, ; deafness, congenital heart defects, and posterior embryotoxon 8651304|Y|glioblastoma multiforme, somatic, ; medulloblastoma 9721216|N|ectodermal dysplasia/skin fragility syndrome 7581377|Y|hirschsprung disease 9860304|Y|convulsions, infantile and paroxysmal choreoathetosis 9645641|Y|hemangioma, capillary infantile 11001930|Y|alzheimer disease-5 10523672|N|epiphyseal dysplasia, multiple, 5, ; {osteoarthritis, hand, susceptibility to}, ; spondyloepimetaphyseal dysplasia 1599015|Y|stem-cell leukemia/lymphoma syndrome 9425900|Y|epilepsy, benign neonatal, type 2 9462751|Y|retinitis pigmentosa-14 8825628|N|charcot-marie-tooth disease, type 2b 12213871|Y|obesity, late-onset}, ; {leanness, inherited 10762163|Y|agat deficiency 7590285|N|charcot-marie-tooth disease, dominant intermediate b 12485195|Y|lymphedema-distichiasis syndrome, ; lymphedema, hereditary ii, ; yellow nail syndrome, ; lymphedema and ptosis, ; lymphedema-distichiasis syndrome with renal disease and diabetes mellitus 8639621|N|alzheimer disease, susceptibility to 1384328|Y|cystic fibrosis, ; congenital bilateral absence of vas deferens, ; sweat chloride elevation without cf ; {pancreatitis, idiopathic} ; {hypertrypsinemia, neonatal 12089525|Y|cataract, marner type, ; cataract, lamellar 9384604|Y|convulsions, familial febrile, 2 2918525|N|bamforth-lazarus syndrome 9573043|N|paget disease, juvenile 10398434|Y|nijmegen breakage syndrome, ; leukemia, acute lymphoblastic 12616398|Y|leigh syndrome, ; mitochondrial complex i deficiency 15186775|N|colorectal cancer 7671806|N|spondylocostal dysostosis, autosomal recessive, 1 9585594|Y|retinitis pigmentosa-25 9718349|Y|osteosarcoma 9781028|Y|deafness, autosomal recessive 13 12560874|Y|carboxypeptidase n deficiency 9733036|Y|cdags syndrome 9199934|N|obesity, severe 10968777|Y|zellweger syndrome, complementation group g 10424734|N|pseudoxanthoma elasticum, autosomal recessive, ; pseudoxanthoma elasticum, autosomal dominant 12165562|Y|erythrokeratodermia variabilis, ; deafness, autosomal dominant 2, ; deafness, autosomal recessive ; deafness, autosomal dominant, with peripheral neuropathy 11502798|Y|thyroid carcinoma, nonmedullary, with cell oxyphilia 12586610|Y|anemia, diamond-blackfan 11450843|Y|deafness, autosomal dominant 2 15184894|Y|muscular dystrophy, congenital, type 1d 8805304|N|lymphoma, non-hodgkin ; breast cancer, invasive intraductal ; colon adenocarcinoma 11528392|Y|tubulopathy, encephalopathy, and liver failure due to complex iii deficiency, ; gracile syndrome, ; leigh syndrome 11708995|Y|spinocerebellar ataxia 8 10910362|Y|hypoparathyroidism, familial isolated 9647647|N|neonatal ichthyosis-sclerosing cholangitis syndrome 12838562|Y|rothmund-thomson syndrome, ; rapadilino syndrome 15122712|Y|charcot-marie-tooth disease, type 1c 9714738|N|spondyloepiphyseal dysplasia, omani type 10369257|Y|citrullinemia, adult-onset type ii, ; citrullinemia, type ii, neonatal-onset 12471200|Y|medullary cystic kidney disease 2 12522785|Y|griscelli syndrome, type 2 14985765|N|hypertension, diastolic, resistance to 10213508|Y|lung cancer, ; esophageal cancer 1679347|Y|pseudo-zellweger syndrome 10196710|Y|deafness, autosomal recessive 20 10053016|Y|crohn disease, susceptibility to 11013083|Y|cystinuria, type iii ; cystinuria, type ii 12788881|Y|hypogonadotropic hypogonadism 12404106|Y|cerebral cavernous malformations-1, ; hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, ; cavernous malformations of cns and retina 10359701|N|cold-induced sweating syndrome 9741631|N|glomerulosclerosis, focal segmental, 3 10649492|Y|colorectal cancer, somatic 10441338|Y|leukemia, acute promyeloyctic, stat5b/rara type ; growth hormone insensitivity with immunodeficiency 9550484|Y|camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10486326|Y|cardiomyopathy, dilated, 1h 10484776|Y|hyperoxaluria, primary, type ii 10084595|N|creutzfeldt-jakob disease, variant, resistance to 3217745|N|cerebral amyloid angiopathy 11966689|Y|hailey-hailey disease 12436112|N|hypoglobulinemia and absent b cells 10585775|N|lipodystrophy, familial partial, with decreased subcutaneous fat of face and neck 12827497|Y|werner syndrome 9879993|Y|epilepsy, partial, with auditory features, ; glioblastoma, somatic 11358829|N|glomerulosclerosis, focal segmental, 1 7833468|Y|leukemia, acute myelomonocytic 7642548|N|asthma, susceptibility to, 1 9326583|N|longevity, reduced 10092806|N|retinitis pigmentosa, mertk-related 10802645|Y|hemochromatosis, type 3 10742096|Y|nephrotic syndrome, steroid-resistant 10712205|Y|ichthyosis, lamellar, type 3 10677304|Y|huntington disease-like 3 11354831|Y|spastic paraplegia-12 10523859|Y|malt lymphoma 11818965|Y|adenomas, multiple colorectal 12446740|N|kenny-caffey syndrome-1, ; hypoparathyroidism-retardation-dysmorphism syndrome 12239568|N|deafness, autosomal recessive 61 10888877|Y|mulibrey nanism 9585364|Y|dystonia-1, torsion, ; dystonia, early-onset atypical, with myoclonic features 9636179|Y|inflammatory bowel disease-7 12522152|Y|pseudohypoaldosteronism, type iic 10820125|Y|spinocereballar ataxia-13 9863590|Y|tuberous sclerosis-1, ; lymphangioleiomyomatosis, ; focal cortical dysplasia, taylor balloon cell type 11017080|Y|optic atrophy 1, ; {glaucoma, normal tension, susceptibility to 12189486|Y|speech-language disorder-1 10769282|Y|cardiomyopathy, dilated, 1j 10986047|Y|psoriasis, susceptibility to 10682967|Y|cataract, posterior polar-3 148984|Y|erythrokeratodermia variabilis with erythema gyratum repens 11101839|Y|deafness, nonsyndromic, modifier 1 3706300|Y|sitosterolemia 15028284|Y|stargardt disease 3, ; macular dystrophy, autosomal dominant, chromosome 6-linked 11398101|Y|usher syndrome, type 1f 12075507|Y|usher syndrome, type 1d, ; deafness, autosomal recessive 12 10945466|Y|acheiropody 11386754|Y|fibromatosis, gingival, 2 598011|Y|pseudohermaphroditism, male, with gynecomastia 11115382|Y|deafness, autosomal dominant 25 15099588|Y|charcot-marie-tooth disease, type 2b2 10830953|N|deafness, autosomal recessive 29 11168022|Y|split hand/foot malformation type 1 with deafness 11073536|Y|hyperaldosteronism, familial, type ii 10843148|Y|thyroid carcinoma, papillary, with papillary renal neoplasia 10729291|Y|exudative vitreoretinopathy-3 11179027|Y|convulsions, benign familial infantile, 2 7130495|Y|nail dysplasia, isolated congenital 11279517|Y|dermatitis, atopic 12189496|Y|megalencephalic leukoencephalopathy with subcortical cysts 12055248|Y|severe combined immunodeficiency, athabascan type 10507729|Y|retinitis pigmentosa-28 9837826|Y|myopathy, distal 10463355|Y|charcot-marie-tooth disease, type 2c 10211827|N|meleda disease 11709537|Y|wolfram syndrome, ; hearing loss, low-frequency sensorineural 11700328|Y|oculocutaneous albinism, type iv, ; [pigmentation of hair, skin, and eyes, variation in 11410839|Y|stature qtl 7 11163214|N|pyogenic sterile arthritis, pyoderma gangrenosum, and acne 11586299|Y|ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11445634|Y|spinocerebellar ataxia 16 12080385|Y|usher syndrome, type 3 11517424|Y|candidiasis, familial chronic mucocutaneous, autosomal dominant, with thyroid disease 11687802|Y|deafness, autosomal recessive 16 12707859|Y|leukoencephalopathy with vanishing white matter, ; ovarioleukodystrophy 11526246|Y|longevity 752065|Y|charcot-marie-tooth disease, dominant intermediate 1 11668429|Y|3-methylglutaconicaciduria, type iii 11592034|Y|muscular dystrophy, congenital, 1c ; muscular dystrophy, limb-girdle, type 2i 11713718|Y|body mass index 12217959|Y|cryptorchidism, bilateral 11752413|Y|inflammatory bowel disease-8 10777714|Y|inflammatory bowel disease-6 14997421|Y|sotos syndrome, ; leukemia, acute myeloid, ; weaver syndrome, ; beckwith-wiedemann syndrome 12664304|Y|hermansky-pudlak syndrome 7495858|N|leukoencephalopathy with vanishing white matter 15133743|Y|specific language impairment qtl, 1 11781686|Y|seckel syndrome 2 14770177|Y|malonyl-coa decarboxylase deficiency 11935327|Y|azoospremia, nonobstructive 10936054|N|deafness, autosomal recessive 30 2624476|Y|hyperprolinemia, type ii 10930361|Y|friedreich ataxia, ; friedreich ataxia with retained reflexes 10598815|Y|alstrom syndrome 11384996|N|globozoospermia 8106452|Y|sandhoff disease, infantile, juvenile, and adult forms, ; spinal muscular atrophy, juvenile 12030328|Y|cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities 11112350|Y|porphyria, congenital erythropoietic 11935336|Y|ptosis, congenital 3674753|N|norum disease, ; fish-eye disease 11980916|N|congenital disorder of glycosylation, type iie 3446585|N|isovaleric acidemia 9503017|N|mucopolysaccharidosis type ix 11369686|Y|aortic aneurysm, familial thoracic 2 9689990|Y|macrocephaly with multiple epiphyseal dysplasia and distinctive facies 11376440|Y|atrioventricular septal defect, susceptibility to, 2}, ; atrioventricular septal defect, partial, with heterotaxy syndrome 14618417|Y|van der woude syndrome, ; popliteal pterygium syndrome, ; orofacial cleft 6 12140191|Y|deafness, autosomal recessive 6 12080392|Y|deafness, autosomal recessive 33 10727622|N|nicotine dependence, susceptibility to 12395297|Y|duane-radial ray syndrome 12496757|Y|shwachman-diamond syndrome 12474141|Y|migraine without aura, susceptibility to, 4 11735221|Y|migraine with or without aura, susceptibility to, 5 1831692|N|mucoepidermoid salivary gland carcinoma 12563560|Y|prostate cancer agressiveness qtl 2531643|Y|epidermolytic palmoplantar keratoderma 10915763|Y|smith-magenis syndrome 12624138|Y|mucopolysaccharidosis type iiid 10665502|Y|anderson disease, ; chylomicron retention disease, ; chylomicron retention disease with marinesco-sjogren syndrome 12588793|N|usher syndrome, type 1g 12740763|Y|nephrolithiasis, uric acid, susceptibility to 8940155|N|mucolipidosis iiia 10671519|N|osteopoikilosis, ; buschke-ollendorff syndrome, ; melorheostosis with osteopoikilosis 11440995|Y|ovarian cancer, epithelial, susceptibility to 9811928|Y|cerebral cavernous malformations-2 10665500|Y|ceroid-lipofuscinosis, neuronal 2, classic late infantile 12830400|Y|amyotrophic lateral sclerosis 6