GenePage ID Gene Symbol DOID - name(|) 478063 foxh1.2 DOID:0110881 - holoprosencephaly 1 478083 tbx1 DOID:11198 - DiGeorge syndrome|DOID:12583 - velocardiofacial syndrome|DOID:6406 - double outlet right ventricle|DOID:6419 - tetralogy of Fallot 478140 hba1 DOID:0110031 - hemoglobin H disease|DOID:0111363 - Heinz body anemia|DOID:0111631 - familial erythrocytosis 7|DOID:1099 - alpha thalassemia 478148 gdf9 DOID:0080871 - primary ovarian insufficiency 14 478155 c2 DOID:0060295 - complement component 2 deficiency|DOID:0110026 - age related macular degeneration 14 478164 gata2 DOID:0050908 - myelodysplastic syndrome|DOID:0111947 - immunodeficiency 21|DOID:9119 - acute myeloid leukemia 478174 slc5a1.2 DOID:4194 - glucose metabolism disease 478183 gdf2 DOID:1270 - hereditary hemorrhagic telangiectasia 478209 fzd4 DOID:0050535 - exudative vitreoretinopathy|DOID:0060282 - persistent hyperplastic primary vitreous|DOID:0111412 - exudative vitreoretinopathy 1 478219 suclg1 DOID:0080128 - mitochondrial DNA depletion syndrome 9 478245 wnt10a DOID:0050591 - tooth agenesis|DOID:0111647 - Schopf-Schulz-Passarge syndrome 478264 tcf3 DOID:0081140 - agammaglobulinemia 8A 478287 slc24a4 DOID:0110055 - amelogenesis imperfecta type 3A|DOID:0110063 - amelogenesis imperfecta hypomaturation type 2A5 478293 rab28 DOID:0050572 - cone-rod dystrophy|DOID:0111024 - cone-rod dystrophy 18 478344 vax1 DOID:0111804 - syndromic microphthalmia 11 478354 fgg DOID:2236 - congenital afibrinogenemia 478382 pygl DOID:2754 - glycogen storage disease VI 478427 sfrp4 DOID:0080019 - metaphyseal dysplasia 478436 mapk8ip1 DOID:9352 - type 2 diabetes mellitus 478451 crx DOID:0050572 - cone-rod dystrophy|DOID:0110333 - Leber congenital amaurosis 7|DOID:0111005 - cone-rod dystrophy 2|DOID:10584 - retinitis pigmentosa|DOID:14791 - Leber congenital amaurosis 478543 foxe1 DOID:0050655 - Bamforth-Lazarus syndrome 478586 tgfbr1 DOID:0050466 - Loeys-Dietz syndrome|DOID:0060690 - autosomal dominant auditory neuropathy 1|DOID:5585 - Ferguson-Smith tumor 478628 tnni2 DOID:0050646 - distal arthrogryposis|DOID:0111600 - distal arthrogryposis type 2B1 478638 dact1 DOID:0050887 - Townes-Brocks syndrome 478662 prkcd DOID:0110119 - autoimmune lymphoproliferative syndrome type 3|DOID:12177 - common variable immunodeficiency|DOID:6688 - autoimmune lymphoproliferative syndrome 478671 irs1 DOID:9352 - type 2 diabetes mellitus 478760 six3 DOID:0110872 - holoprosencephaly 2 478770 fga DOID:0050636 - familial visceral amyloidosis|DOID:2236 - congenital afibrinogenemia 478797 polg DOID:0080119 - mitochondrial DNA depletion syndrome 1|DOID:0080122 - Alpers-Huttenlocher syndrome|DOID:0080123 - mitochondrial DNA depletion syndrome 4b|DOID:0111276 - sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|DOID:0111521 - autosomal dominant progressive external ophthalmoplegia 1|DOID:0111522 - autosomal recessive progressive external ophthalmoplegia 1|DOID:1442 - Alpers syndrome 478806 fras1 DOID:0090001 - Fraser syndrome|DOID:0111405 - Fraser syndrome 1 478812 fzd6 DOID:0080079 - nonsyndromic congenital nail disorder 1|DOID:0080088 - nonsyndromic congenital nail disorder 10 478821 map2k1 DOID:0060233 - cardiofaciocutaneous syndrome|DOID:0060578 - Noonan syndrome 1|DOID:0111462 - cardiofaciocutaneous syndrome 3 478831 hoxc13 DOID:0111656 - ectodermal dysplasia 9 478849 acvr1 DOID:13374 - fibrodysplasia ossificans progressiva 478858 mycn DOID:0060464 - Feingold syndrome|DOID:0080171 - esophageal atresia/tracheoesophageal fistula 478868 avp DOID:12388 - neurohypophyseal diabetes insipidus 478880 c4a DOID:0060297 - complement component 4a deficiency|DOID:9074 - systemic lupus erythematosus 478921 foxf1 DOID:13042 - persistent fetal circulation syndrome 478944 odc1 DOID:9256 - colorectal cancer 478952 agtr1 DOID:10825 - essential hypertension 478981 cdhr1 DOID:0050572 - cone-rod dystrophy|DOID:0111021 - cone-rod dystrophy 15|DOID:10584 - retinitis pigmentosa 478991 stat4 DOID:7148 - rheumatoid arthritis|DOID:9074 - systemic lupus erythematosus 479035 rap1b DOID:0060473 - Kabuki syndrome 479054 foxc1 DOID:0050786 - iridogoniodysgenesis syndrome|DOID:0060673 - Peters anomaly|DOID:0080608 - anterior segment dysgenesis 3|DOID:0110122 - Axenfeld-Rieger syndrome type 3|DOID:14686 - Axenfeld-Rieger syndrome 479063 psmb8 DOID:0050553 - proteasome-associated autoinflammatory syndrome 1 479102 tbx21 DOID:0111579 - asthma, nasal polyps, and aspirin intolerance 479133 bmp6 DOID:0111031 - hemochromatosis type 5 479153 app DOID:0070028 - APP-related cerebral amyloid angiopathy|DOID:0080348 - Alzheimer's disease 1|DOID:10652 - Alzheimer's disease 479190 bmp1 DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110342 - osteogenesis imperfecta type 13 479254 fgfr3 DOID:0050331 - lacrimoauriculodentodigital syndrome 1|DOID:0060703 - Muenke Syndrome|DOID:0080041 - hypochondroplasia|DOID:0111158 - SADDAN|DOID:0111160 - camptodactyly-tall stature-scoliosis-hearing loss syndrome|DOID:0111161 - Crouzon syndrome-acanthosis nigricans syndrome|DOID:0111162 - epidermal nevus|DOID:11054 - urinary bladder cancer|DOID:13481 - thanatophoric dysplasia|DOID:2998 - testicular cancer|DOID:4362 - cervical cancer|DOID:4440 - seminoma|DOID:4480 - achondroplasia|DOID:5557 - testicular germ cell cancer|DOID:9256 - colorectal cancer 479278 eya1 DOID:0060232 - branchiootic syndrome|DOID:0111423 - branchiootorenal syndrome 1|DOID:14702 - branchiootorenal syndrome 479288 sufu DOID:0050902 - medulloblastoma|DOID:0070365 - nevoid basal cell carcinoma syndrome 1|DOID:2512 - nevoid basal cell carcinoma syndrome|DOID:3565 - meningioma|DOID:9250 - acrocallosal syndrome 479298 bmp15 DOID:0080494 - ovarian dysgenesis 2|DOID:14450 - 46 XX gonadal dysgenesis|DOID:5426 - primary ovarian insufficiency 479305 ms4a1 DOID:0081148 - common variable immunodeficiency 5|DOID:12177 - common variable immunodeficiency 479311 slc12a3l DOID:0050450 - Gitelman syndrome 479317 notch1 DOID:0060227 - Adams-Oliver syndrome|DOID:1712 - aortic valve stenosis 479353 nr0b2 DOID:9970 - obesity 479360 cfb DOID:0110026 - age related macular degeneration 14 479380 hras DOID:0050469 - Costello syndrome|DOID:0111162 - epidermal nevus|DOID:0111359 - large congenital melanocytic nevus|DOID:0111530 - linear nevus sebaceous syndrome|DOID:11054 - urinary bladder cancer|DOID:3962 - thyroid gland follicular carcinoma 479388 umod.1 DOID:0060062 - familial juvenile hyperuricemic nephropathy 479394 ttr DOID:0050638 - transthyretin amyloidosis|DOID:0070466 - carpal tunnel syndrome 1|DOID:0080219 - dystransthyretinemic hyperthyroxinemia|DOID:12169 - carpal tunnel syndrome 479428 ar DOID:0060161 - Kennedy's disease|DOID:0080776 - partial androgen insensitivity syndrome|DOID:10283 - prostate cancer|DOID:10892 - hypospadias|DOID:1924 - hypogonadism|DOID:4674 - androgen insensitivity syndrome 479511 bcap31 DOID:0112123 - deafness, dystonia, and cerebral hypomyelination 479537 aicda DOID:0060758 - immunodeficiency with hyper-IgM type 2 479547 atp6v1a DOID:0070129 - autosomal recessive cutis laxa type IID|DOID:0070136 - autosomal dominant cutis laxa 2|DOID:0112275 - developmental and epileptic encephalopathy 93 479557 zeb2 DOID:0060485 - Mowat-Wilson syndrome 479566 wnt3 DOID:0112192 - tetraamelia syndrome 1 479598 ctnna1 DOID:0060863 - patterned macular dystrophy|DOID:0060864 - patterned macular dystrophy 2 479642 mybpc3 DOID:0081158 - dilated cardiomyopathy 1MM|DOID:0110310 - hypertrophic cardiomyopathy 4|DOID:0110425 - dilated cardiomyopathy 1A 479666 pou3f4 DOID:0050566 - X-linked nonsyndromic deafness|DOID:0111737 - X-linked deafness 2|DOID:10003 - sensorineural hearing loss 479725 aqp5 DOID:0050428 - nonepidermolytic palmoplantar keratoderma|DOID:0111707 - Bothnian type palmoplantar keratoderma 479788 ace DOID:0080348 - Alzheimer's disease 1|DOID:10652 - Alzheimer's disease 479794 kng1 DOID:0111676 - high molecular weight kininogen deficiency 479801 twist1 DOID:14768 - Saethre-Chotzen syndrome|DOID:2340 - craniosynostosis 479826 tal1 DOID:9952 - acute lymphoblastic leukemia 479842 lrp1 DOID:0080751 - keratosis pilaris atrophicans 479867 tp63 DOID:0050601 - ADULT syndrome|DOID:0060330 - Rapp-Hodgkin syndrome|DOID:0060782 - EEC syndrome|DOID:0060783 - ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3|DOID:0090020 - split hand-foot malformation|DOID:0090023 - split hand-foot malformation 4|DOID:0090119 - ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 479917 il10 DOID:0081267 - graft-versus-host disease|DOID:635 - acquired immunodeficiency syndrome|DOID:7148 - rheumatoid arthritis 479924 slc12a1 DOID:0110142 - Bartter disease type 1 479940 tll1 DOID:0110111 - atrial heart septal defect 6 479979 hoxa13 DOID:0060739 - hand-foot-genital syndrome|DOID:0111544 - Guttmacher syndrome 479989 bmpr2 DOID:0081268 - pulmonary venoocclusive disease 1|DOID:14557 - primary pulmonary hypertension|DOID:5453 - pulmonary venoocclusive disease 480017 nr2f1 DOID:0112226 - Bosch-Boonstra-Schaaf optic atrophy syndrome 480066 tnik DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081216 - autosomal recessive intellectual developmental disorder 54 480075 foxg1 DOID:1206 - Rett syndrome 480102 mfn2 DOID:0080067 - Charcot-Marie-Tooth disease type 5|DOID:0080068 - Charcot-Marie-Tooth disease type 6|DOID:0110155 - Charcot-Marie-Tooth disease type 2A2A|DOID:0111557 - Charcot-Marie-Tooth disease type 2A2B|DOID:14116 - multiple symmetric lipomatosis 480121 hand1 DOID:0050651 - atrioventricular septal defect|DOID:1657 - ventricular septal defect 480130 tnf DOID:2841 - asthma|DOID:6364 - migraine 480137 agt DOID:10825 - essential hypertension 480145 pkd1l1 DOID:758 - situs inversus 480185 il6 DOID:0060688 - arteriovenous malformations of the brain|DOID:0110892 - inflammatory bowel disease 1|DOID:11476 - osteoporosis|DOID:676 - juvenile rheumatoid arthritis|DOID:9352 - type 2 diabetes mellitus|DOID:9744 - type 1 diabetes mellitus 480191 paxip1 DOID:0080348 - Alzheimer's disease 1|DOID:10652 - Alzheimer's disease 480286 il12b DOID:0111950 - immunodeficiency 29|DOID:0111955 - immunodeficiency 27A|DOID:2841 - asthma 480303 sox10 DOID:0090111 - PCWH syndrome|DOID:0110953 - Waardenburg syndrome type 4A|DOID:0110955 - Waardenburg syndrome type 4C|DOID:0110956 - Waardenburg syndrome type 2E|DOID:3614 - Kallmann syndrome 480313 pde6d DOID:0060376 - Joubert syndrome with orofaciodigital defect|DOID:0110991 - Joubert syndrome 22 480319 hspb1 DOID:0110163 - Charcot-Marie-Tooth disease axonal type 2F|DOID:0111207 - autosomal dominant distal hereditary motor neuronopathy 3 480346 actc1 DOID:0110110 - atrial heart septal defect 5|DOID:0110307 - hypertrophic cardiomyopathy 1|DOID:0110317 - hypertrophic cardiomyopathy 11|DOID:0110456 - dilated cardiomyopathy 1R 480421 cd3g DOID:0060018 - CD3gamma deficiency|DOID:0111973 - immunodeficiency 17 480430 zic3 DOID:0050545 - visceral heterotaxy|DOID:0111766 - X-linked VACTERL association 480458 casp10 DOID:0060060 - non-Hodgkin lymphoma|DOID:0080764 - hereditary diffuse gastric cancer|DOID:0110115 - autoimmune lymphoproliferative syndrome type 2A|DOID:10534 - stomach cancer|DOID:6688 - autoimmune lymphoproliferative syndrome 480466 tjp2 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0070224 - progressive familial intrahepatic cholestasis 4 480505 tf DOID:0050649 - atransferrinemia 480514 tnnc1 DOID:0110307 - hypertrophic cardiomyopathy 1|DOID:0110319 - hypertrophic cardiomyopathy 13|DOID:0110434 - dilated cardiomyopathy 1Z 480550 gnal DOID:0090055 - dystonia 25 480559 tgfb2 DOID:0050466 - Loeys-Dietz syndrome 480591 foxe3 DOID:0060605 - anterior segment mesenchymal dysgenesis|DOID:0060673 - Peters anomaly|DOID:0080606 - anterior segment dysgenesis 1|DOID:0080607 - anterior segment dysgenesis 2|DOID:0110230 - cataract 34 multiple types|DOID:11367 - congenital aphakia 480646 cyp21a2.1 DOID:0050811 - congenital adrenal hyperplasia 480697 nos3 DOID:0080348 - Alzheimer's disease 1|DOID:10591 - pre-eclampsia|DOID:10652 - Alzheimer's disease|DOID:10825 - essential hypertension|DOID:3526 - cerebral infarction|DOID:6713 - cerebrovascular disease 480716 six1 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0060232 - branchiootic syndrome|DOID:0110553 - autosomal dominant nonsyndromic deafness 23|DOID:0111423 - branchiootorenal syndrome 1|DOID:14702 - branchiootorenal syndrome 480726 sox4 DOID:1925 - Coffin-Siris syndrome 480736 hoxa1 DOID:0050682 - Athabaskan brainstem dysgenesis syndrome 480764 spry4 DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0090079 - hypogonadotropic hypogonadism 17 with or without anosmia|DOID:3614 - Kallmann syndrome 480784 rasa2 DOID:3490 - Noonan syndrome 480835 rara DOID:0060318 - acute promyelocytic leukemia 480854 apc DOID:0050424 - familial adenomatous polyposis|DOID:0050902 - medulloblastoma|DOID:0080409 - familial adenomatous polyposis 1|DOID:0080764 - hereditary diffuse gastric cancer|DOID:0090015 - Cenani-Lenz syndactyly syndrome|DOID:0111349 - hereditary desmoid disease|DOID:0112182 - mismatch repair cancer syndrome|DOID:10534 - stomach cancer|DOID:684 - hepatocellular carcinoma|DOID:9256 - colorectal cancer 480874 sin3a DOID:0060395 - chromosome 15q24 deletion syndrome 480892 nr4a2 DOID:0060892 - late onset Parkinson's disease|DOID:14330 - Parkinson's disease 480901 dll4 DOID:0060227 - Adams-Oliver syndrome 480946 rps6ka3 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112019 - non-syndromic X-linked intellectual disability 19|DOID:3783 - Coffin-Lowry syndrome 480956 igf2r DOID:684 - hepatocellular carcinoma 480982 fgf8 DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090086 - hypogonadotropic hypogonadism 6 with or without anosmia|DOID:3614 - Kallmann syndrome 481008 rarb DOID:0050819 - obsolete Matthew-Wood syndrome|DOID:0111800 - syndromic microphthalmia 12 481017 psmb9 DOID:0060916 - proteasome-associated autoinflammatory syndrome 3 481037 gjb1 DOID:0110209 - Charcot-Marie-Tooth disease X-linked dominant 1 481046 stat3 DOID:0050751 - T-cell large granular lymphocyte leukemia|DOID:0060639 - permanent neonatal diabetes mellitus|DOID:3261 - hyper IgE recurrent infection syndrome 1|DOID:7465 - chronic NK-cell lymphocytosis 481074 rorc DOID:0111940 - immunodeficiency 42 481124 srsf2 DOID:4797 - SM-AHNMD 481144 tlr2 DOID:9256 - colorectal cancer 481164 prdx1 DOID:0050715 - methylmalonic aciduria and homocystinuria type cblC 481200 tfap2a DOID:0050691 - branchiooculofacial syndrome 481256 pdp1 DOID:3649 - pyruvate decarboxylase deficiency 481271 met DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:12849 - autistic disorder|DOID:4465 - papillary renal cell carcinoma|DOID:684 - hepatocellular carcinoma 481306 smad6 DOID:0060912 - craniosynostosis 7|DOID:0080334 - aortic valve disease 2|DOID:1712 - aortic valve stenosis 481372 flt3 DOID:9119 - acute myeloid leukemia|DOID:9952 - acute lymphoblastic leukemia 481381 foxc2 DOID:0050468 - yellow nail syndrome|DOID:0050580 - hereditary lymphedema|DOID:0070213 - hereditary lymphedema II|DOID:0111509 - lymphedema-distichiasis syndrome 481400 aqp2 DOID:0081061 - nephrogenic diabetes insipidus type 2|DOID:12387 - nephrogenic diabetes insipidus 481418 gdf1 DOID:0060772 - multiple types of congenital heart defects 6|DOID:0060856 - right atrial isomerism|DOID:6406 - double outlet right ventricle|DOID:6419 - tetralogy of Fallot 481435 ghr DOID:13810 - familial hypercholesterolemia|DOID:9521 - Laron syndrome 481464 kremen1 DOID:0111650 - ectodermal dysplasia 13 481529 map3k7 DOID:0111787 - frontometaphyseal dysplasia 2 481538 f2 DOID:0080701 - prothrombin thrombophilia|DOID:0111907 - thrombophilia due to thrombin defect|DOID:2235 - prothrombin deficiency|DOID:2452 - thrombophilia|DOID:3526 - cerebral infarction|DOID:6713 - cerebrovascular disease 481568 lmx1a DOID:0110591 - autosomal dominant nonsyndromic deafness 7 481587 tnnt1 DOID:0110936 - nemaline myopathy 5A 481624 epb41 DOID:2373 - hereditary elliptocytosis 481653 tnfsf11 DOID:0110943 - autosomal recessive osteopetrosis 2 481679 tap2 DOID:0060009 - MHC class I deficiency 481724 a2m DOID:0080348 - Alzheimer's disease 1|DOID:10652 - Alzheimer's disease 481755 il1b DOID:0080764 - hereditary diffuse gastric cancer|DOID:10534 - stomach cancer 481783 gdf5 DOID:0050788 - proximal symphalangism|DOID:0050790 - fibular hypoplasia and complex brachydactyly|DOID:0050794 - multiple synostoses syndrome|DOID:0080051 - acromesomelic dysplasia, Hunter-Thompson type|DOID:0080052 - acromesomelic dysplasia, Grebe type|DOID:0080787 - proximal symphalangism 1|DOID:0081318 - multiple synostoses syndrome 2|DOID:0110964 - brachydactyly type A1|DOID:0110965 - brachydactyly type A2|DOID:0110970 - brachydactyly type C|DOID:0110977 - brachydactyly type A1C 481793 zfpm2 DOID:0111770 - 46,XY sex reversal 9|DOID:3827 - congenital diaphragmatic hernia|DOID:6419 - tetralogy of Fallot 481809 gli2 DOID:0080328 - Culler-Jones syndrome|DOID:0110873 - holoprosencephaly 9 481819 lrp6 DOID:0050591 - tooth agenesis|DOID:3393 - coronary artery disease 481828 bmp2 DOID:0110965 - brachydactyly type A2|DOID:0111029 - hemochromatosis type 1 481848 tnxb DOID:0080731 - Ehlers-Danlos syndrome classic-like 1|DOID:14757 - Ehlers-Danlos syndrome hypermobility type|DOID:9620 - vesicoureteral reflux 481854 il7r DOID:0060010 - Omenn syndrome|DOID:0060015 - interleukin-7 receptor alpha deficiency|DOID:0090014 - severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive 481879 fgf20 DOID:0060892 - late onset Parkinson's disease|DOID:0080200 - bilateral renal aplasia|DOID:14330 - Parkinson's disease 481897 amn DOID:13382 - megaloblastic anemia 481915 psen1 DOID:0110042 - Alzheimer's disease 3|DOID:0110455 - dilated cardiomyopathy 1U|DOID:11870 - Pick's disease|DOID:2280 - hidradenitis suppurativa|DOID:9255 - frontotemporal dementia 481991 smad3 DOID:0050466 - Loeys-Dietz syndrome 482020 runx2 DOID:0111513 - metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome|DOID:13994 - cleidocranial dysplasia 482029 mfrp DOID:0060837 - isolated microphthalmia 5|DOID:0080634 - nanophthalmos|DOID:10629 - microphthalmia 482045 tbl1xr1 DOID:0070071 - autosomal dominant intellectual developmental disorder 41|DOID:0081362 - Pierpont syndrome 482054 dlc1 DOID:9256 - colorectal cancer 482084 slc4a11 DOID:0060649 - congenital hereditary endothelial dystrophy of cornea|DOID:0111620 - corneal dystrophy-perceptive deafness syndrome|DOID:11555 - Fuchs' endothelial dystrophy 482090 myl2 DOID:0110316 - hypertrophic cardiomyopathy 10 482110 pkd2 DOID:0110859 - polycystic kidney disease 2|DOID:898 - autosomal dominant polycystic kidney disease 482117 il4r DOID:635 - acquired immunodeficiency syndrome 482165 stat1 DOID:0111944 - immunodeficiency 31B|DOID:0111945 - immunodeficiency 31A|DOID:0111946 - immunodeficiency 31C|DOID:0111955 - immunodeficiency 27A|DOID:2058 - chronic mucocutaneous candidiasis 482175 csf3r DOID:0060597 - atypical chronic myeloid leukemia, BCR-ABL1 negative|DOID:0080187 - chronic neutrophilic leukemia|DOID:0090120 - hereditary neutrophilia|DOID:0112129 - severe congenital neutropenia 7 482184 tubb DOID:0090136 - complex cortical dysplasia with other brain malformations 6|DOID:0112242 - congenital symmetric circumferential skin creases 1 482192 esr1 DOID:1612 - breast cancer|DOID:6364 - migraine 482202 tnfrsf11a DOID:0081365 - Paget's disease of bone 2|DOID:0110946 - autosomal recessive osteopetrosis 7|DOID:0111542 - familial expansile osteolysis|DOID:3347 - osteosarcoma|DOID:5408 - Paget's disease of bone 482237 pax9 DOID:0050591 - tooth agenesis 482276 cdh3 DOID:0110711 - congenital hypotrichosis with juvenile macular dystrophy|DOID:0111649 - ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 482286 avpr2 DOID:0081060 - X-linked nephrogenic diabetes insipidus|DOID:0112121 - nephrogenic syndrome of inappropriate antidiuresis|DOID:12387 - nephrogenic diabetes insipidus 482292 ep300 DOID:1933 - Rubinstein-Taybi syndrome|DOID:9256 - colorectal cancer 482319 hoxd13 DOID:0050689 - brachydactyly-syndactyly syndrome|DOID:0060242 - synpolydactyly|DOID:0110971 - brachydactyly type D|DOID:0110972 - brachydactyly type E1|DOID:0111819 - syndactyly type 5|DOID:11193 - syndactyly|DOID:14679 - VACTERL association 482339 il2rg DOID:0060010 - Omenn syndrome|DOID:0060013 - X-linked severe combined immunodeficiency|DOID:628 - combined T cell and B cell immunodeficiency 482345 fgf5 DOID:0111566 - familial isolated trichomegaly 482399 timp3 DOID:0090114 - Sorsby's fundus dystrophy 482418 hnf4a DOID:0050524 - maturity-onset diabetes of the young|DOID:0080760 - Fanconi renotubular syndrome 4|DOID:0111099 - maturity-onset diabetes of the young type 1|DOID:0111101 - maturity-onset diabetes of the young type 5|DOID:9352 - type 2 diabetes mellitus 482454 il17rd DOID:0090076 - hypogonadotropic hypogonadism 18 with or without anosmia|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:3614 - Kallmann syndrome 482471 fgfrl1 DOID:0050460 - Wolf-Hirschhorn syndrome 482491 pitx2 DOID:0050650 - familial atrial fibrillation|DOID:0050786 - iridogoniodysgenesis syndrome|DOID:0060673 - Peters anomaly|DOID:0080609 - anterior segment dysgenesis 4|DOID:0080610 - anterior segment dysgenesis 5|DOID:0110120 - Axenfeld-Rieger syndrome type 1|DOID:0111548 - ring dermoid of cornea|DOID:14686 - Axenfeld-Rieger syndrome 482501 mpo DOID:0080348 - Alzheimer's disease 1|DOID:10652 - Alzheimer's disease 482510 smarce1 DOID:0112368 - Coffin-Siris syndrome 5|DOID:1925 - Coffin-Siris syndrome 482527 foxo1 DOID:4051 - alveolar rhabdomyosarcoma 482565 nr2f2 DOID:0080943 - 46,XX sex reversal 5 482585 igf2 DOID:14681 - Silver-Russell syndrome|DOID:2154 - nephroblastoma|DOID:5572 - Beckwith-Wiedemann syndrome 482604 tnnt3 DOID:0050646 - distal arthrogryposis|DOID:0111600 - distal arthrogryposis type 2B1 482613 tnnt2 DOID:0060480 - left ventricular noncompaction|DOID:0110308 - hypertrophic cardiomyopathy 2|DOID:0110426 - dilated cardiomyopathy 1D|DOID:0111427 - restrictive cardiomyopathy 3|DOID:397 - restrictive cardiomyopathy 482643 gli1 DOID:12714 - Ellis-Van Creveld syndrome 482653 zic2 DOID:0110878 - holoprosencephaly 5 482663 wnt10b DOID:0050591 - tooth agenesis|DOID:0090020 - split hand-foot malformation|DOID:0090026 - split hand-foot malformation 6 482682 foxp2 DOID:0111275 - speech-language disorder-1 482739 pax3 DOID:0110948 - Waardenburg syndrome type 1|DOID:0110949 - Waardenburg syndrome type 3|DOID:0111336 - craniofacial-deafness-hand syndrome|DOID:4051 - alveolar rhabdomyosarcoma 482812 atp1b1 DOID:10825 - essential hypertension 482840 mmp2 DOID:0080696 - Winchester syndrome 482850 spred1 DOID:0070484 - Legius syndrome 482856 tp73 DOID:5409 - lung small cell carcinoma 482890 prickle2 DOID:0111276 - sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 482958 ncf2 DOID:0070191 - autosomal recessive chronic granulomatous disease 2|DOID:3265 - chronic granulomatous disease 482985 fgf23.2 DOID:0050948 - autosomal dominant hypophosphatemic rickets|DOID:0111063 - hyperphosphatemic familial tumoral calcinosis 483035 ctla4 DOID:0110751 - type 1 diabetes mellitus 12|DOID:12361 - Graves' disease|DOID:7997 - thyrotoxicosis|DOID:9074 - systemic lupus erythematosus 483048 fxyd2 DOID:0060885 - renal hypomagnesemia 2 483057 bmp4 DOID:0080404 - orofacial cleft 11|DOID:0111805 - syndromic microphthalmia 6|DOID:10629 - microphthalmia 483084 nr3c2 DOID:0060855 - autosomal dominant pseudohypoaldosteronism type 1 483135 pparg DOID:0050440 - familial partial lipodystrophy|DOID:0070202 - familial partial lipodystrophy type 2|DOID:0070204 - familial partial lipodystrophy type 3|DOID:3070 - high grade glioma|DOID:9352 - type 2 diabetes mellitus|DOID:9970 - obesity 483145 six6 DOID:0080635 - optic disc anomalies with retinal and/or macular dystrophy|DOID:0111801 - syndromic microphthalmia 3|DOID:10629 - microphthalmia 483154 tecta.2 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110479 - autosomal recessive nonsyndromic deafness 21|DOID:0110544 - autosomal dominant nonsyndromic deafness 12 483163 runx1 DOID:7148 - rheumatoid arthritis|DOID:9119 - acute myeloid leukemia 483182 flt4 DOID:0050580 - hereditary lymphedema 483192 hesx1 DOID:0060857 - septooptic dysplasia|DOID:3614 - Kallmann syndrome 483208 nodal DOID:758 - situs inversus 483215 fgb DOID:2236 - congenital afibrinogenemia 483232 sox18 DOID:0111360 - hypotrichosis-lymphedema-telangiectasia-renal defect syndrome|DOID:0111361 - hypotrichosis-lymphedema-telangiectasia syndrome 483260 il1rapl1 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112022 - non-syndromic X-linked intellectual disability 21 483281 cd19 DOID:0081145 - common variable immunodeficiency 2|DOID:0081146 - common variable immunodeficiency 3|DOID:12177 - common variable immunodeficiency 483323 mstn.1 DOID:0111072 - myostatin-related muscle hypertrophy 483330 pdx1 DOID:0050524 - maturity-onset diabetes of the young|DOID:0050877 - pancreatic agenesis|DOID:0060639 - permanent neonatal diabetes mellitus|DOID:0111103 - maturity-onset diabetes of the young type 4|DOID:9352 - type 2 diabetes mellitus 483378 ctbp1 DOID:0050460 - Wolf-Hirschhorn syndrome 483408 pkd1 DOID:0110858 - polycystic kidney disease 1|DOID:898 - autosomal dominant polycystic kidney disease 483417 sox11 DOID:0070057 - Coffin-Siris syndrome 9|DOID:1925 - Coffin-Siris syndrome 483435 slc12a5 DOID:0080460 - developmental and epileptic encephalopathy 34 483454 bmpr1b DOID:0050790 - fibular hypoplasia and complex brachydactyly|DOID:0080052 - acromesomelic dysplasia, Grebe type|DOID:0081237 - acromesomelic dysplasia-3|DOID:0110964 - brachydactyly type A1|DOID:0110965 - brachydactyly type A2|DOID:0110978 - brachydactyly type A1D 483464 dhh DOID:0111774 - 46,XY sex reversal 7|DOID:14448 - 46,XY sex reversal 483509 esrrb DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110493 - autosomal recessive nonsyndromic deafness 35 483529 csf2rb DOID:12120 - pulmonary alveolar proteinosis 483563 rab7a DOID:0110159 - Charcot-Marie-Tooth disease type 2B 483588 fgf16 DOID:0111813 - syndactyly type 8|DOID:1040 - chronic lymphocytic leukemia 483598 cdh11 DOID:0080631 - Elsahy-Waters syndrome 483673 fgf14 DOID:0050976 - spinocerebellar ataxia type 27 483683 tek DOID:0050792 - multiple cutaneous and mucosal venous malformations 483692 pax8 DOID:0070124 - congenital nongoitrous hypothryoidism 2 483702 pomc DOID:9970 - obesity 483711 jak2 DOID:0060652 - familial erythrocytosis 1|DOID:11512 - Budd-Chiari syndrome|DOID:2224 - essential thrombocythemia|DOID:4971 - myelofibrosis|DOID:8997 - polycythemia vera|DOID:9119 - acute myeloid leukemia 483739 slc34a2 DOID:12117 - pulmonary alveolar microlithiasis 483759 crb1 DOID:0110079 - Leber congenital amaurosis 8|DOID:0110358 - retinitis pigmentosa 12|DOID:0111541 - pigmented paravenous chorioretinal atrophy|DOID:10584 - retinitis pigmentosa|DOID:14791 - Leber congenital amaurosis 483794 gdnf DOID:0050771 - pheochromocytoma|DOID:0060731 - congenital central hypoventilation syndrome 483869 dvl1 DOID:0060765 - autosomal dominant Robinow syndrome 2|DOID:0060766 - autosomal dominant Robinow syndrome 1 483939 arx DOID:0050453 - lissencephaly|DOID:0050562 - West syndrome|DOID:0050709 - early infantile epileptic encephalopathy|DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112021 - non-syndromic X-linked intellectual disability ARX-related|DOID:0112151 - corpus callosum agenesis-abnormal genitalia syndrome|DOID:0112238 - X-linked lissencephaly 2|DOID:14744 - Partington syndrome 483949 tacc3 DOID:11054 - urinary bladder cancer 483959 kcnj1 DOID:0110142 - Bartter disease type 1|DOID:0110143 - Bartter disease type 2 483982 smarca4 DOID:0070046 - Coffin-Siris syndrome 4|DOID:1925 - Coffin-Siris syndrome|DOID:6179 - ovarian small cell carcinoma 484049 nppa DOID:0050650 - familial atrial fibrillation|DOID:0080663 - atrial standstill 2 484087 pax6 DOID:0060605 - anterior segment mesenchymal dysgenesis|DOID:0060673 - Peters anomaly|DOID:0070530 - foveal hypoplasia 1|DOID:0070532 - aniridia 1|DOID:0080606 - anterior segment dysgenesis 1|DOID:0080610 - anterior segment dysgenesis 5|DOID:0110266 - cataract 9 multiple types|DOID:0111383 - autosomal dominant keratitis|DOID:0111531 - bilateral optic nerve hypoplasia|DOID:0111578 - Gillespie syndrome|DOID:11975 - coloboma of optic nerve|DOID:12270 - coloboma|DOID:12271 - aniridia|DOID:14515 - WAGR syndrome 484097 wnt4 DOID:0111526 - Mullerian aplasia and hyperandrogenism|DOID:0112178 - Mayer-Rokitansky-Kuster-Hauser syndrome type 1|DOID:14450 - 46 XX gonadal dysgenesis 484116 hnf1a DOID:0050387 - nonpapillary renal cell carcinoma|DOID:0050524 - maturity-onset diabetes of the young|DOID:0110757 - type 1 diabetes mellitus 20|DOID:0111102 - maturity-onset diabetes of the young type 3|DOID:0111366 - familial hepatic adenoma|DOID:9352 - type 2 diabetes mellitus|DOID:9744 - type 1 diabetes mellitus 484145 mc2r DOID:0080621 - glucocorticoid deficiency 1 484167 akt2 DOID:0112263 - hypoinsulinemic hypoglycemia with hemihypertrophy|DOID:9352 - type 2 diabetes mellitus 484186 ihh DOID:0050604 - acrocapitofemoral dysplasia|DOID:0110964 - brachydactyly type A1 484223 acvrl1 DOID:1270 - hereditary hemorrhagic telangiectasia 484247 acvr2b DOID:0050545 - visceral heterotaxy 484276 bves DOID:0110290 - autosomal recessive limb-girdle muscular dystrophy type 2X 484285 tp53 DOID:0111503 - Li-Fraumeni syndrome 1|DOID:1040 - chronic lymphocytic leukemia|DOID:1612 - breast cancer|DOID:2626 - choroid plexus papilloma|DOID:3012 - Li-Fraumeni syndrome|DOID:3070 - high grade glioma|DOID:3347 - osteosarcoma|DOID:3376 - bone osteosarcoma|DOID:3948 - adrenocortical carcinoma|DOID:4905 - pancreatic carcinoma|DOID:5409 - lung small cell carcinoma|DOID:5648 - choroid plexus carcinoma|DOID:684 - hepatocellular carcinoma|DOID:9256 - colorectal cancer|DOID:9261 - nasopharynx carcinoma 484294 sox17a DOID:9620 - vesicoureteral reflux 484312 slc9a1 DOID:0080065 - autosomal recessive spinocerebellar ataxia 19 484347 ca2 DOID:0110941 - autosomal recessive osteopetrosis 3 484415 slc22a5 DOID:14365 - systemic primary carnitine deficiency disease 484424 ptf1a DOID:0050877 - pancreatic agenesis 484446 fn1 DOID:0112297 - spondylometaphyseal dysplasia corner fracture type 484465 fgf9 DOID:0050794 - multiple synostoses syndrome|DOID:0081319 - multiple synostoses syndrome 3 484532 vegfc DOID:0050580 - hereditary lymphedema 484552 sox2 DOID:0060857 - septooptic dysplasia|DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111801 - syndromic microphthalmia 3|DOID:10629 - microphthalmia 484626 mip DOID:0110251 - cataract 15 multiple types|DOID:0110266 - cataract 9 multiple types 484635 gata1 DOID:0060888 - transient myeloproliferative syndrome|DOID:0111767 - X-linked thrombocytopenia with beta-thalassemia|DOID:0112156 - X-linked dyserythropoietic anemia|DOID:13271 - cutaneous porphyria|DOID:1339 - Diamond-Blackfan anemia|DOID:14250 - Down syndrome|DOID:1588 - thrombocytopenia 484654 zeb1 DOID:0060457 - posterior polymorphous corneal dystrophy|DOID:0110857 - posterior polymorphous corneal dystrophy 3|DOID:11555 - Fuchs' endothelial dystrophy 484662 prrx1 DOID:0060341 - agnathia-otocephaly complex 484685 smad9 DOID:14557 - primary pulmonary hypertension 484694 fshb DOID:0090088 - hypogonadotropic hypogonadism 24 without anosmia 484765 ezr DOID:0060308 - autosomal recessive intellectual developmental disorder 484784 ahsg DOID:0080628 - alopecia-mental retardation syndrome 1 484814 sox3 DOID:0060857 - septooptic dysplasia|DOID:0111779 - X-linked panhypopituitarism|DOID:9410 - panhypopituitarism 484830 atp1a1 DOID:0111558 - Charcot-Marie-Tooth disease type 2DD 484854 gli3 DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:1148 - polydactyly|DOID:14761 - Greig cephalopolysyndactyly syndrome|DOID:9248 - Pallister-Hall syndrome|DOID:9250 - acrocallosal syndrome 484864 sox17b.1 DOID:9620 - vesicoureteral reflux 484881 spink2 DOID:0111930 - spermatogenic failure 29 484887 tp53rk DOID:0060364 - Galloway-Mowat syndrome 1|DOID:0080246 - Galloway-Mowat syndrome 4 484905 gata5 DOID:0050650 - familial atrial fibrillation|DOID:6419 - tetralogy of Fallot 484952 akt1 DOID:0081002 - Cowden syndrome 6|DOID:13482 - Proteus syndrome|DOID:1612 - breast cancer|DOID:2394 - ovarian cancer|DOID:5419 - schizophrenia|DOID:6457 - Cowden syndrome|DOID:9256 - colorectal cancer 484961 mitf DOID:0090002 - Tietz syndrome|DOID:0090100 - ocular albinism with sensorineural deafness|DOID:0110950 - Waardenburg syndrome type 2A 484998 wt1 DOID:0050438 - Frasier syndrome|DOID:0070532 - aniridia 1|DOID:1184 - nephrotic syndrome|DOID:12271 - aniridia|DOID:14515 - WAGR syndrome|DOID:1790 - malignant mesothelioma|DOID:2154 - nephroblastoma|DOID:3764 - Denys-Drash syndrome 485008 mmp1 DOID:0060642 - recessive dystrophic epidermolysis bullosa|DOID:3083 - chronic obstructive pulmonary disease 485025 tfap2b DOID:0060563 - Char syndrome 485043 fgf10 DOID:0050331 - lacrimoauriculodentodigital syndrome 1|DOID:0111549 - aplasia of lacrimal and salivary glands 485062 gata6 DOID:0050650 - familial atrial fibrillation|DOID:0050651 - atrioventricular septal defect|DOID:0110114 - atrial heart septal defect 9|DOID:0111733 - pancreatic hypoplasia-diabetes-congenital heart disease syndrome|DOID:6406 - double outlet right ventricle|DOID:6419 - tetralogy of Fallot 485092 nos2 DOID:10825 - essential hypertension 485100 nphs2 DOID:1184 - nephrotic syndrome 485110 kmt2c DOID:0080598 - Kleefstra syndrome 2 485116 lrp5 DOID:0050535 - exudative vitreoretinopathy|DOID:0060849 - osteoporosis-pseudoglioma syndrome|DOID:0080036 - SOST-related sclerosing bone dysplasia|DOID:0080037 - Worth syndrome|DOID:0110937 - autosomal dominant osteopetrosis 1|DOID:0111411 - exudative vitreoretinopathy 4|DOID:0111412 - exudative vitreoretinopathy 1|DOID:11476 - osteoporosis 485175 ret DOID:0050430 - multiple endocrine neoplasia type 2A|DOID:0050547 - familial medullary thyroid carcinoma|DOID:0050771 - pheochromocytoma|DOID:0060731 - congenital central hypoventilation syndrome|DOID:0080200 - bilateral renal aplasia|DOID:10016 - multiple endocrine neoplasia type 2B|DOID:14766 - renal agenesis 485203 hoxd10 DOID:0111568 - congenital vertical talus 485219 otx2 DOID:0060857 - septooptic dysplasia|DOID:0060863 - patterned macular dystrophy|DOID:0111806 - syndromic microphthalmia 5|DOID:10629 - microphthalmia|DOID:9406 - hypopituitarism 485251 sall4 DOID:0060747 - Duane-radial ray syndrome|DOID:0111381 - IVIC syndrome 485279 wnt1 DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110340 - osteogenesis imperfecta type 4|DOID:0110347 - osteogenesis imperfecta type 15 485320 zfhx2 DOID:0081075 - Marsili syndrome 485360 nr5a1 DOID:0070169 - spermatogenic failure 8|DOID:0080864 - primary ovarian insufficiency 7|DOID:0111764 - 46,XX sex reversal 4|DOID:0111772 - 46,XY sex reversal 3|DOID:14227 - azoospermia|DOID:14448 - 46,XY sex reversal|DOID:14450 - 46 XX gonadal dysgenesis|DOID:5426 - primary ovarian insufficiency 485386 arhgef12 DOID:9119 - acute myeloid leukemia 485404 pax4 DOID:0050524 - maturity-onset diabetes of the young|DOID:0111107 - maturity-onset diabetes of the young type 9|DOID:1837 - diabetic ketoacidosis|DOID:9352 - type 2 diabetes mellitus 485413 tshb DOID:0070123 - congenital nongoitrous hypothryoidism 4 485440 pitx1 DOID:11836 - clubfoot 485456 slc44a4 DOID:0050564 - autosomal dominant nonsyndromic deafness 485486 eya4 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110440 - dilated cardiomyopathy 1J|DOID:0110542 - autosomal dominant nonsyndromic deafness 10 485535 mapkbp1 DOID:0111112 - nephronophthisis 1|DOID:0111127 - nephronophthisis 20 485544 dcn DOID:0060445 - congenital stromal corneal dystrophy 485605 tgfbr2 DOID:0050466 - Loeys-Dietz syndrome|DOID:5041 - esophageal cancer 485615 bmpr1a DOID:0050657 - Bannayan-Riley-Ruvalcaba syndrome|DOID:0050787 - juvenile polyposis syndrome|DOID:0060389 - chromosome 10q23 deletion syndrome|DOID:0111686 - hereditary mixed polyposis syndrome 2|DOID:6457 - Cowden syndrome 485642 mmp14 DOID:0080696 - Winchester syndrome 485651 hnf1b DOID:0050387 - nonpapillary renal cell carcinoma|DOID:0060885 - renal hypomagnesemia 2|DOID:0111101 - maturity-onset diabetes of the young type 5|DOID:10283 - prostate cancer|DOID:9352 - type 2 diabetes mellitus 485661 jag1 DOID:6419 - tetralogy of Fallot|DOID:9245 - Alagille syndrome 485690 smad4 DOID:0050787 - juvenile polyposis syndrome|DOID:0111543 - juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome|DOID:1270 - hereditary hemorrhagic telangiectasia|DOID:4905 - pancreatic carcinoma 485743 vegfa DOID:9352 - type 2 diabetes mellitus 485765 ifngr2.1 DOID:0111955 - immunodeficiency 27A|DOID:0111995 - immunodeficiency 28 485800 nr2e3 DOID:0090059 - enhanced S-cone syndrome|DOID:0110399 - retinitis pigmentosa 37|DOID:10584 - retinitis pigmentosa 485815 sim1 DOID:9970 - obesity 485853 hivep2 DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070073 - autosomal dominant intellectual developmental disorder 43 485904 ins DOID:0050524 - maturity-onset diabetes of the young|DOID:0060639 - permanent neonatal diabetes mellitus|DOID:0110741 - type 1 diabetes mellitus 2|DOID:0111099 - maturity-onset diabetes of the young type 1|DOID:0111108 - maturity-onset diabetes of the young type 10 485929 gata3 DOID:0060878 - hypoparathyroidism-deafness-renal disease syndrome 485945 tpm1 DOID:0060480 - left ventricular noncompaction|DOID:0110309 - hypertrophic cardiomyopathy 3|DOID:0110457 - dilated cardiomyopathy 1Y 485974 tcf7l2 DOID:9352 - type 2 diabetes mellitus 485984 nkx2-1 DOID:12859 - choreatic disease|DOID:3969 - thyroid gland papillary carcinoma 485994 grhl2 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0060457 - posterior polymorphous corneal dystrophy|DOID:0080669 - posterior polymorphous corneal dystrophy 4|DOID:0110557 - autosomal dominant nonsyndromic deafness 28 486003 smad7 DOID:9256 - colorectal cancer 486032 lemd3 DOID:0111536 - Buschke-Ollendorff syndrome|DOID:4253 - melorheostosis 486051 lrp2 DOID:0090144 - Donnai-Barrow syndrome 486112 lhb DOID:0090091 - hypogonadotropic hypogonadism 23 with or without anosmia 486130 hrg DOID:0111903 - thrombophilia due to HRG deficiency 486146 msr1 DOID:10283 - prostate cancer|DOID:9206 - Barrett's esophagus 486161 pitx3 DOID:0060605 - anterior segment mesenchymal dysgenesis|DOID:0080606 - anterior segment dysgenesis 1|DOID:0110249 - cataract 11 multiple types 486232 skic2 DOID:0111416 - trichohepatoenteric syndrome 2 486239 slc26a3.2 DOID:0060296 - congenital secretory chloride diarrhea 1 486248 ift88 DOID:10584 - retinitis pigmentosa 486255 esr2 DOID:0050547 - familial medullary thyroid carcinoma 486273 c3 DOID:0110021 - age related macular degeneration 9|DOID:8354 - complement component 3 deficiency 486282 nphp1 DOID:0050576 - Senior-Loken syndrome|DOID:0110999 - Joubert syndrome 4|DOID:0111112 - nephronophthisis 1|DOID:1935 - Bardet-Biedl syndrome 486295 fst DOID:11612 - polycystic ovary syndrome 486305 per2 DOID:0050628 - advanced sleep phase syndrome|DOID:0110011 - advanced sleep phase syndrome 1 486370 c5 DOID:8158 - complement component 5 deficiency 486400 mybpc1 DOID:0050646 - distal arthrogryposis|DOID:0060653 - lethal congenital contracture syndrome 3|DOID:0060654 - lethal congenital contracture syndrome 4|DOID:0111598 - distal arthrogryposis type 1B 486461 slc2a2 DOID:9352 - type 2 diabetes mellitus 486471 slc5a5 DOID:0112185 - thyroid dyshormonogenesis 1 486481 hes7.2 DOID:0050568 - spondylocostal dysostosis|DOID:0112364 - spondylocostal dysostosis 4 486504 vdr DOID:0080884 - vitamin D-dependent rickets type 2A|DOID:10609 - rickets|DOID:11476 - osteoporosis 486531 rhd DOID:0050641 - Rh deficiency syndrome 486548 slc6a2 DOID:0111154 - postural orthostatic tachycardia syndrome 486611 foxl2 DOID:14778 - blepharophimosis, ptosis, and epicanthus inversus syndrome|DOID:5426 - primary ovarian insufficiency 486649 myd88 DOID:0060901 - lymphoplasmacytic lymphoma 486684 prkch DOID:3526 - cerebral infarction|DOID:6713 - cerebrovascular disease 486736 amhr2 DOID:0050791 - persistent Mullerian duct syndrome 486761 tap1 DOID:0060009 - MHC class I deficiency 486780 axin1 DOID:684 - hepatocellular carcinoma 486800 pax2 DOID:0090006 - renal coloboma syndrome|DOID:0111132 - focal segmental glomerulosclerosis 7|DOID:14766 - renal agenesis 486854 tbx5 DOID:0060468 - Holt-Oram syndrome 486883 trpm7 DOID:0111246 - amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 486940 prickle1 DOID:0111448 - progressive myoclonus epilepsy 1B|DOID:3535 - Unverricht-Lundborg syndrome|DOID:891 - progressive myoclonus epilepsy 486950 nkx2-6 DOID:6406 - double outlet right ventricle 486957 mef2c DOID:0070050 - neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 486986 tnni3 DOID:0110313 - hypertrophic cardiomyopathy 7|DOID:0110459 - dilated cardiomyopathy 1FF|DOID:0110460 - dilated cardiomyopathy 2A|DOID:0111425 - restrictive cardiomyopathy 1|DOID:397 - restrictive cardiomyopathy 487058 pde6c DOID:0050795 - cone dystrophy|DOID:13911 - achromatopsia 487139 pax7 DOID:4051 - alveolar rhabdomyosarcoma 487199 ctnnb1 DOID:0050535 - exudative vitreoretinopathy|DOID:0050902 - medulloblastoma|DOID:0070049 - autosomal dominant intellectual developmental disorder 19|DOID:0080264 - exudative vitreoretinopathy 7|DOID:2394 - ovarian cancer|DOID:3840 - craniopharyngioma|DOID:5374 - pilomatrixoma|DOID:684 - hepatocellular carcinoma|DOID:9256 - colorectal cancer 487209 mcph1 DOID:10907 - microcephaly 487235 cux2 DOID:0050561 - Lennox-Gastaut syndrome 487269 syngap1 DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070035 - autosomal dominant intellectual developmental disorder 5 487278 dnm1l DOID:0070347 - encephalopathy due to defective mitochondrial and peroxisomal fission 1|DOID:0111438 - optic atrophy 5 487308 gdf3 DOID:0060838 - isolated microphthalmia 7|DOID:10426 - Klippel-Feil syndrome|DOID:10629 - microphthalmia 487333 tbx20 DOID:0110109 - atrial heart septal defect 4 487361 nherf1 DOID:0080078 - hypophosphatemic nephrolithiasis/osteoporosis 2 487370 snai2 DOID:0110952 - obsolete Waardenburg syndrome type 2D|DOID:3263 - piebaldism 487393 mef2a DOID:3393 - coronary artery disease 487403 arnt2 DOID:0060857 - septooptic dysplasia 487419 smo DOID:2513 - basal cell carcinoma 487447 mif DOID:676 - juvenile rheumatoid arthritis 487457 gata4 DOID:0050650 - familial atrial fibrillation|DOID:0050651 - atrioventricular septal defect|DOID:0110107 - atrial heart septal defect 2|DOID:1657 - ventricular septal defect|DOID:6419 - tetralogy of Fallot 487535 nphp4.2 DOID:0050576 - Senior-Loken syndrome|DOID:0111112 - nephronophthisis 1|DOID:0111115 - nephronophthisis 4 487562 slc11a2 DOID:0050642 - hypochromic microcytic anemia 487572 alas2 DOID:0060063 - sideroblastic anemia 1|DOID:13270 - erythropoietic protoporphyria 487582 pdgfb DOID:0060230 - basal ganglia calcification|DOID:3507 - dermatofibrosarcoma protuberans|DOID:3565 - meningioma|DOID:4586 - familial meningioma 487609 nos1 DOID:12638 - hypertrophic pyloric stenosis 487674 meis2 DOID:0111697 - cleft palate, cardiac defects, and intellectual disabillity 487692 ptgis DOID:10825 - essential hypertension 487698 htra1 DOID:0110019 - age related macular degeneration 7|DOID:0111036 - CADASIL 2|DOID:13945 - CADASIL 487707 tfrc DOID:0111948 - immunodeficiency 46 487723 nog DOID:0050788 - proximal symphalangism|DOID:0050789 - tarsal-carpal coalition syndrome|DOID:0050794 - multiple synostoses syndrome|DOID:0080787 - proximal symphalangism 1|DOID:0081317 - multiple synostoses syndrome 1|DOID:0110975 - brachydactyly type B2 487748 slc9a7 DOID:0050776 - non-syndromic X-linked intellectual disability 487754 casp8 DOID:0110116 - autoimmune lymphoproliferative syndrome type 2B|DOID:1324 - lung cancer|DOID:1612 - breast cancer|DOID:684 - hepatocellular carcinoma 487810 nphs1 DOID:0080390 - nephrotic syndrome type 1|DOID:1184 - nephrotic syndrome 487872 nphp3 DOID:0050576 - Senior-Loken syndrome|DOID:0060259 - renal-hepatic-pancreatic dysplasia|DOID:0070121 - Meckel syndrome 7|DOID:0111114 - nephronophthisis 3|DOID:0111124 - nephronophthisis 16 487881 gh1 DOID:0060872 - isolated growth hormone deficiency type II|DOID:0060873 - isolated growth hormone deficiency type IA|DOID:0060874 - isolated growth hormone deficiency type IB 487923 csnk2b DOID:0060307 - autosomal dominant intellectual developmental disorder 487941 nr1h4 DOID:0070225 - progressive familial intrahepatic cholestasis 5 487959 nr0b1 DOID:0080156 - X-linked adrenal hypoplasia congenita|DOID:0111777 - 46,XY sex reversal 2|DOID:14448 - 46,XY sex reversal 487965 nkx2-5 DOID:0050650 - familial atrial fibrillation|DOID:0070125 - congenital nongoitrous hypothyroidism 5|DOID:0110112 - atrial heart septal defect 7|DOID:1657 - ventricular septal defect|DOID:6406 - double outlet right ventricle|DOID:6419 - tetralogy of Fallot|DOID:9955 - hypoplastic left heart syndrome 487974 lfng DOID:0050568 - spondylocostal dysostosis|DOID:0112361 - spondylocostal dysostosis 3 488023 nf1 DOID:0050458 - juvenile myelomonocytic leukemia|DOID:0070482 - spinal neurofibromatosis|DOID:0070483 - Watson syndrome|DOID:0111253 - neurofibromatosis 1|DOID:0111683 - neurofibromatosis-Noonan syndrome|DOID:8712 - neurofibromatosis 488038 shh DOID:0110875 - holoprosencephaly 3|DOID:0111380 - solitary median maxillary central incisor|DOID:1148 - polydactyly|DOID:12270 - coloboma 488096 spink1 DOID:4989 - pancreatitis 488110 tgfb1 DOID:1485 - cystic fibrosis|DOID:4997 - Camurati-Engelmann disease 488148 ifng DOID:0080324 - tuberous sclerosis 1|DOID:0080325 - tuberous sclerosis 2|DOID:12449 - aplastic anemia|DOID:13515 - tuberous sclerosis|DOID:635 - acquired immunodeficiency syndrome 488198 socs3 DOID:0110100 - atopic dermatitis 4 488207 trac DOID:0111977 - immunodeficiency 7 488216 anos1 DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090094 - hypogonadotropic hypogonadism 1 with or without anosmia|DOID:3614 - Kallmann syndrome 488221 ptch1 DOID:0050902 - medulloblastoma|DOID:0070365 - nevoid basal cell carcinoma syndrome 1|DOID:0110876 - holoprosencephaly 7|DOID:2512 - nevoid basal cell carcinoma syndrome|DOID:2513 - basal cell carcinoma 488396 slc49a4 DOID:0050387 - nonpapillary renal cell carcinoma 488405 prcc DOID:4465 - papillary renal cell carcinoma 488432 lyz DOID:0050636 - familial visceral amyloidosis 488441 aspscr1 DOID:4239 - alveolar soft part sarcoma 488450 rnf139 DOID:0050387 - nonpapillary renal cell carcinoma 488469 tbp DOID:0050967 - spinocerebellar ataxia type 17|DOID:0060892 - late onset Parkinson's disease|DOID:14330 - Parkinson's disease 488511 bicc1 DOID:0111682 - diffuse cystic renal dysplasia 488766 hdac4 DOID:0111704 - chromosome 2q37 deletion syndrome 488910 sh3tc2 DOID:0110183 - Charcot-Marie-Tooth disease type 4C 488943 zbtb24 DOID:0090007 - immunodeficiency-centromeric instability-facial anomalies syndrome|DOID:0090009 - immunodeficiency-centromeric instability-facial anomalies syndrome 2 488987 tmpo DOID:0110425 - dilated cardiomyopathy 1A 489007 rac1 DOID:0080235 - autosomal dominant intellectual developmental disorder 48 489121 actn2 DOID:0110428 - dilated cardiomyopathy 1AA 489159 smn1 DOID:0050529 - adult spinal muscular atrophy|DOID:0050530 - intermediate spinal muscular atrophy|DOID:0060160 - childhood spinal muscular atrophy|DOID:12376 - juvenile spinal muscular atrophy|DOID:13137 - Werdnig-Hoffmann disease 489194 tbce DOID:0060348 - hypoparathyroidism-retardation-dysmorphism syndrome|DOID:0080722 - Kenny-Caffey syndrome type 1 489237 gjb3 DOID:0050467 - erythrokeratodermia variabilis|DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110475 - autosomal recessive nonsyndromic deafness 1A|DOID:0110558 - autosomal dominant nonsyndromic deafness 2A|DOID:0110559 - autosomal dominant nonsyndromic deafness 2B 489247 nedd4l DOID:0050454 - periventricular nodular heterotopia 489335 prpf31 DOID:0110408 - retinitis pigmentosa 11|DOID:10584 - retinitis pigmentosa 489345 rab11a DOID:0060307 - autosomal dominant intellectual developmental disorder 489396 jup DOID:0080551 - Naxos disease|DOID:0110083 - arrhythmogenic right ventricular dysplasia 12 489406 anln DOID:0111133 - focal segmental glomerulosclerosis 8 489495 mras DOID:3490 - Noonan syndrome 489534 gsn DOID:0050637 - Finnish type amyloidosis 489657 lmnb1 DOID:0060785 - adult-onset autosomal dominant demyelinating leukodystrophy 489736 cd40lg DOID:0060022 - CD40 ligand deficiency 489783 ifrd1 DOID:0050969 - spinocerebellar ataxia type 18 489810 rasgrp1 DOID:6688 - autoimmune lymphoproliferative syndrome 489819 src DOID:9256 - colorectal cancer 489851 rab18 DOID:0060237 - Warburg micro syndrome|DOID:0110718 - Warburg micro syndrome 3 489906 tbx18 DOID:0080207 - CAKUT2 489916 cxcr4 DOID:0060591 - WHIM syndrome 489942 creb3l1 DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110345 - osteogenesis imperfecta type 16 489981 itga6 DOID:0060733 - junctional epidermolysis bullosa with pyloric atresia 490007 cav1 DOID:0111137 - congenital generalized lipodystrophy type 3|DOID:14557 - primary pulmonary hypertension 490074 lhx3 DOID:9406 - hypopituitarism 490114 smpx DOID:0050566 - X-linked nonsyndromic deafness|DOID:0111735 - X-linked deafness 4 490142 atp8b1 DOID:0070226 - progressive familial intrahepatic cholestasis 1|DOID:0070231 - benign recurrent intrahepatic cholestasis 1|DOID:1852 - intrahepatic cholestasis 490159 kitlg DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110590 - autosomal dominant nonsyndromic deafness 69|DOID:0111373 - familial progressive hyperpigmentation with or without hypopigmentation 490168 znf423 DOID:0111122 - nephronophthisis 14|DOID:0111124 - nephronophthisis 16 490255 il21r DOID:0111982 - immunodeficiency 56 490261 alk DOID:769 - neuroblastoma 490288 tapbp DOID:0060009 - MHC class I deficiency 490368 krt17 DOID:0050449 - pachyonychia congenita|DOID:0111556 - steatocystoma multiplex 490377 msx1 DOID:0050567 - orofacial cleft|DOID:0050591 - tooth agenesis|DOID:0080399 - orofacial cleft 5|DOID:6678 - tooth and nail syndrome 490409 arpc1b DOID:0112004 - immunodeficiency 71 490442 lmnb2 DOID:0111450 - progressive myoclonus epilepsy 9 490471 adamts3 DOID:0060366 - Hennekam syndrome 490480 gja5 DOID:0050650 - familial atrial fibrillation|DOID:0060411 - chromosome 1q21.1 deletion syndrome|DOID:0080662 - atrial standstill 1 490562 rab27a DOID:0060833 - Griscelli syndrome type 2 490580 prokr2 DOID:0060857 - septooptic dysplasia|DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090092 - hypogonadotropic hypogonadism 3 with or without anosmia|DOID:3614 - Kallmann syndrome 490605 tubgcp6 DOID:0080105 - microcephaly and chorioretinopathy 1 490623 brca1 DOID:13636 - Fanconi anemia|DOID:1612 - breast cancer|DOID:5683 - hereditary breast ovarian cancer syndrome 490632 gcnt2.2 DOID:0110242 - cataract 13 with adult i phenotype|DOID:0110243 - cataract 46 juvenile-onset 490651 palld.2 DOID:4905 - pancreatic carcinoma 490674 smarcc2 DOID:1925 - Coffin-Siris syndrome 490703 cnksr2 DOID:0050776 - non-syndromic X-linked intellectual disability 490746 sdc3 DOID:9970 - obesity 490755 rbpj DOID:0060227 - Adams-Oliver syndrome 490807 sftpb DOID:12120 - pulmonary alveolar proteinosis 490882 actb DOID:0060229 - Baraitser-Winter syndrome|DOID:0081112 - Baraitser-Winter syndrome 1 490891 ror1 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0080263 - autosomal recessive nonsyndromic deafness 108 490900 flrt3 DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0090093 - hypogonadotropic hypogonadism 21 with or without anosmia|DOID:3614 - Kallmann syndrome 490934 mak DOID:0110380 - retinitis pigmentosa 62|DOID:10584 - retinitis pigmentosa 490992 hnrnpa2b1 DOID:0050881 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia 491001 inhba DOID:3713 - ovary adenocarcinoma 491048 tlr3 DOID:0110014 - age related macular degeneration 1|DOID:635 - acquired immunodeficiency syndrome 491065 igbp1 DOID:0060816 - corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 491078 nfkbia DOID:0081079 - ectodermal dysplasia and immunodeficiency 2|DOID:9261 - nasopharynx carcinoma 491113 dicer1 DOID:0050489 - multinodular goiter|DOID:4769 - pleuropulmonary blastoma 491120 tubb2b DOID:0050997 - cerebellar ataxia, mental retardation and dysequlibrium syndrome|DOID:0080143 - congenital fibrosis of the extraocular muscles|DOID:0090132 - complex cortical dysplasia with other brain malformations 7 491161 osmr DOID:0050639 - primary cutaneous amyloidosis|DOID:0080930 - primary localized cutaneous amyloidosis 1 491265 tubg1 DOID:0090138 - complex cortical dysplasia with other brain malformations 4 491300 rab33b DOID:0060247 - Smith-McCort dysplasia|DOID:0081271 - Smith-McCort dysplasia 2 491392 sall1 DOID:0050887 - Townes-Brocks syndrome 491432 pten DOID:0050657 - Bannayan-Riley-Ruvalcaba syndrome|DOID:0050787 - juvenile polyposis syndrome|DOID:0050866 - oral squamous cell carcinoma|DOID:0060389 - chromosome 10q23 deletion syndrome|DOID:0060867 - macrocephaly-autism syndrome|DOID:10283 - prostate cancer|DOID:13482 - Proteus syndrome|DOID:1380 - endometrial cancer|DOID:14679 - VACTERL association|DOID:2876 - laryngeal squamous cell carcinoma|DOID:3070 - high grade glioma|DOID:3962 - thyroid gland follicular carcinoma|DOID:5520 - head and neck squamous cell carcinoma|DOID:6457 - Cowden syndrome 491479 eed DOID:14731 - Weaver syndrome 491497 ror2 DOID:0060764 - autosomal recessive Robinow syndrome|DOID:0110969 - brachydactyly type B1 491597 ak2 DOID:0060020 - reticular dysgenesis 491607 yars1 DOID:0110199 - Charcot-Marie-Tooth disease dominant intermediate C 491617 actg1 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0060229 - Baraitser-Winter syndrome|DOID:0081113 - Baraitser-Winter syndrome 2|DOID:0110550 - autosomal dominant nonsyndromic deafness 20 491653 pon2 DOID:332 - amyotrophic lateral sclerosis 491685 slc25a1 DOID:0111619 - combined D-2- and L-2-hydroxyglutaric aciduria 491695 tubgcp4 DOID:0080105 - microcephaly and chorioretinopathy 1|DOID:0080107 - microcephaly and chorioretinopathy 3 491713 cntn1 DOID:0080101 - Compton-North congenital myopathy 491732 rbm12 DOID:0080281 - schizophrenia 19 491742 apbb2 DOID:0080348 - Alzheimer's disease 1|DOID:10652 - Alzheimer's disease 491809 malt1 DOID:0111988 - immunodeficiency 12 491919 hpca DOID:0090038 - torsion dystonia 2 491937 acta1 DOID:0080102 - congenital myopathy 4A|DOID:0110927 - nemaline myopathy 3 491964 lox DOID:0070135 - autosomal recessive cutis laxa type IA|DOID:3144 - cutis laxa 491973 megf10 DOID:0111333 - early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 492000 aldh7a1 DOID:0070519 - early-onset vitamin B6-dependent epilepsy 4|DOID:0080768 - pyridoxine-dependent epilepsy 492019 rlim DOID:0112042 - Tonne-Kalscheuer syndrome 492034 bard1 DOID:1612 - breast cancer 492105 nefl DOID:0080294 - Charcot-Marie-Tooth disease dominant intermediate G|DOID:0110149 - Charcot-Marie-Tooth disease type 1F|DOID:0110165 - Charcot-Marie-Tooth disease type 2E 492155 gcm2 DOID:0111387 - familial isolated hypoparathyroidism|DOID:11199 - hypoparathyroidism 492194 dsp DOID:0081109 - keratosis palmoplantaris striata 2|DOID:0090128 - Carvajal syndrome|DOID:0110076 - arrhythmogenic right ventricular dysplasia 8 492212 ppp1r3a DOID:0050440 - familial partial lipodystrophy|DOID:0070204 - familial partial lipodystrophy type 3|DOID:9352 - type 2 diabetes mellitus 492341 adamts2 DOID:0080733 - Ehlers-Danlos syndrome dermatosparaxis type 492350 syne2 DOID:0070250 - autosomal dominant Emery-Dreifuss muscular dystrophy 5|DOID:11726 - Emery-Dreifuss muscular dystrophy 492369 brip1 DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111097 - Fanconi anemia complementation group J|DOID:13636 - Fanconi anemia|DOID:1612 - breast cancer 492421 alox5ap DOID:3526 - cerebral infarction|DOID:6713 - cerebrovascular disease 492449 triobp DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110486 - autosomal recessive nonsyndromic deafness 28 492458 mex3c DOID:10825 - essential hypertension 492489 arid1a DOID:0070044 - Coffin-Siris syndrome 2|DOID:1925 - Coffin-Siris syndrome 492511 kit DOID:2998 - testicular cancer|DOID:3263 - piebaldism|DOID:350 - mastocytosis|DOID:4440 - seminoma|DOID:4797 - SM-AHNMD|DOID:5557 - testicular germ cell cancer|DOID:5842 - testis seminoma|DOID:9119 - acute myeloid leukemia|DOID:9253 - gastrointestinal stromal tumor 492527 trpm1 DOID:0050534 - congenital stationary night blindness|DOID:0110867 - congenital stationary night blindness 1C 492608 myo15a DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110488 - autosomal recessive nonsyndromic deafness 3 492625 rab23 DOID:0060234 - Carpenter syndrome 492664 rax DOID:0060842 - isolated microphthalmia 3|DOID:10629 - microphthalmia 492699 smarcad1 DOID:0080725 - BASAN syndrome|DOID:0111357 - adermatoglyphia 492724 sptb DOID:0110917 - hereditary spherocytosis type 2|DOID:12971 - hereditary spherocytosis|DOID:2373 - hereditary elliptocytosis 492743 lhx4 DOID:9406 - hypopituitarism 492835 sh2b3 DOID:0060652 - familial erythrocytosis 1|DOID:10608 - celiac disease|DOID:2224 - essential thrombocythemia|DOID:4971 - myelofibrosis|DOID:9744 - type 1 diabetes mellitus 492932 sf3b4 DOID:0060383 - acrofacial dysostosis Rodriguez type|DOID:5768 - Nager acrofacial dysostosis 492999 prok2 DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090077 - hypogonadotropic hypogonadism 4 with or without anosmia|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:3614 - Kallmann syndrome 493023 vim DOID:0110235 - cataract 2 multiple types|DOID:0110248 - cataract 30 493085 mxi1 DOID:10283 - prostate cancer 493095 kcnq3 DOID:0060169 - benign familial infantile epilepsy|DOID:14264 - benign neonatal seizures 493146 nexn DOID:0110326 - hypertrophic cardiomyopathy 20|DOID:0110424 - dilated cardiomyopathy 1CC 493196 atp6v0a4 DOID:14219 - renal tubular acidosis 493220 mertk DOID:0110367 - retinitis pigmentosa 38|DOID:10584 - retinitis pigmentosa 493229 gja8 DOID:0060252 - sclerocornea|DOID:0060411 - chromosome 1q21.1 deletion syndrome|DOID:0110231 - cataract 1 multiple types|DOID:0110235 - cataract 2 multiple types 493263 col1a2 DOID:0080727 - Ehlers-Danlos syndrome arthrochalasia type 1|DOID:0080728 - Ehlers-Danlos syndrome arthrochalasia type 2|DOID:0110334 - osteogenesis imperfecta type 1|DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110340 - osteogenesis imperfecta type 4|DOID:0110341 - osteogenesis imperfecta type 2|DOID:11476 - osteoporosis 493297 prpf4 DOID:0110392 - retinitis pigmentosa 70|DOID:10584 - retinitis pigmentosa 493334 ttbk2 DOID:0050961 - spinocerebellar ataxia type 11 493350 nfkbil1 DOID:7148 - rheumatoid arthritis 493390 smarcal1 DOID:0060490 - Schimke immuno-osseous dysplasia 493399 tbcd DOID:0070423 - early onset progressive encephalopathy with brain atrophy and thin corpus callosum 493421 fgd4 DOID:0110192 - Charcot-Marie-Tooth disease type 4H 493440 nr4a3 DOID:4549 - extraskeletal myxoid chondrosarcoma|DOID:6496 - obsolete extraskeletal myxoid chondrosarcoma 493483 il10rb DOID:0110909 - inflammatory bowel disease 25 493501 shoc2 DOID:0080692 - Noonan syndrome-like disorder with loose anagen hair 1 493569 rab39b DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0111781 - Waisman syndrome|DOID:0112059 - non-syndromic X-linked intellectual disability 72 493578 flnc DOID:0080096 - myofibrillar myopathy 5|DOID:0110327 - hypertrophic cardiomyopathy 26|DOID:0111190 - distal myopathy 4|DOID:11720 - distal myopathy 493597 smarcb1 DOID:0070045 - Coffin-Siris syndrome 3|DOID:0070480 - schwannomatosis 1|DOID:1925 - Coffin-Siris syndrome|DOID:2129 - atypical teratoid rhabdoid tumor|DOID:3204 - schwannomatosis|DOID:3565 - meningioma 493607 plk4 DOID:0050569 - Seckel syndrome|DOID:0080105 - microcephaly and chorioretinopathy 1|DOID:0080106 - microcephaly and chorioretinopathy 2 493678 cd36 DOID:0111046 - platelet-type bleeding disorder 10 493756 atrip DOID:0050569 - Seckel syndrome 493809 atm DOID:0050746 - mantle cell lymphoma|DOID:1040 - chronic lymphocytic leukemia|DOID:12704 - ataxia telangiectasia|DOID:1612 - breast cancer 493856 prph DOID:0060193 - amyotrophic lateral sclerosis type 1 493892 mrps2 DOID:0111482 - combined oxidative phosphorylation deficiency 36 493901 gfpt1 DOID:0110660 - congenital myasthenic syndrome 12|DOID:0110679 - congenital myasthenic syndrome 4C 493908 actn1 DOID:0111053 - platelet-type bleeding disorder 15 493936 acta2 DOID:13099 - Moyamoya disease|DOID:14004 - thoracic aortic aneurysm 493962 hnrnpa1 DOID:0050881 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia|DOID:0060211 - amyotrophic lateral sclerosis type 20|DOID:0111386 - inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3|DOID:332 - amyotrophic lateral sclerosis 493987 alox5 DOID:2841 - asthma 493996 vhl DOID:0050387 - nonpapillary renal cell carcinoma|DOID:0050771 - pheochromocytoma|DOID:0060474 - familial erythrocytosis 2|DOID:14175 - von Hippel-Lindau disease 494027 ski DOID:2340 - craniosynostosis 494059 myo7a DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110477 - autosomal recessive nonsyndromic deafness 2|DOID:0110543 - autosomal dominant nonsyndromic deafness 11|DOID:0110826 - Usher syndrome type 1|DOID:0110827 - Usher syndrome type 2 494069 p4hb DOID:0060438 - Cole-Carpenter syndrome 494124 foxi1 DOID:0050332 - enlarged vestibular aqueduct|DOID:0060744 - Pendred Syndrome|DOID:0110498 - autosomal recessive nonsyndromic deafness 4 494160 gja3 DOID:0110235 - cataract 2 multiple types|DOID:0110253 - cataract 14 multiple types 494199 grin1 DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070038 - autosomal dominant intellectual developmental disorder 8 494213 clcf1 DOID:0060294 - cold-induced sweating syndrome 494301 adrb2 DOID:2841 - asthma|DOID:9970 - obesity 494319 kptn DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081206 - autosomal recessive intellectual developmental disorder 41 494338 actn4 DOID:0111128 - focal segmental glomerulosclerosis 1 494376 sall2 DOID:12270 - coloboma 494420 asah1 DOID:0050464 - Farber lipogranulomatosis|DOID:0111527 - spinal muscular atrophy with progressive myoclonic epilepsy 494464 tpi1 DOID:0050884 - triosephosphate isomerase deficiency 494473 ripk4 DOID:0060055 - popliteal pterygium syndrome 494482 rax2 DOID:0050572 - cone-rod dystrophy|DOID:0111018 - cone-rod dystrophy 11|DOID:0111065 - autosomal recessive distal hereditary motor neuronopathy 2 494504 trit1 DOID:0111464 - combined oxidative phosphorylation deficiency 35 494511 lrp4 DOID:0060251 - sclerosteosis|DOID:0060757 - sclerosteosis 2|DOID:0090015 - Cenani-Lenz syndactyly syndrome 494528 alg2 DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080561 - congenital disorder of glycosylation Ii|DOID:0110669 - congenital myasthenic syndrome 14 494538 ifnar2.1 DOID:0111994 - immunodeficiency 45 494556 fbn2 DOID:0050646 - distal arthrogryposis|DOID:0111595 - congenital contractural arachnodactyly 494583 mid1 DOID:0050780 - obsolete Opitz-GBBB syndrome|DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0080697 - Opitz GBBB syndrome 494613 prkdc DOID:0111961 - immunodeficiency 26 494641 flnb DOID:0050648 - atelosteogenesis|DOID:0050680 - Boomerang dysplasia|DOID:0090116 - spondylocarpotarsal synostosis syndrome|DOID:14764 - Larsen syndrome 494656 clcn2 DOID:446 - primary hyperaldosteronism|DOID:4890 - juvenile myoclonic epilepsy|DOID:644 - leukoencephalopathy 494690 rassf1 DOID:1324 - lung cancer 494739 mecp2 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0060799 - syndromic X-linked intellectual disability Lubs type|DOID:0060827 - X-linked intellectual disability-psychosis-macroorchidism syndrome|DOID:0111932 - severe congenital encephalopathy due to MECP2 mutation|DOID:1206 - Rett syndrome|DOID:1932 - Angelman syndrome 494749 lmx1b.1 DOID:1067 - open-angle glaucoma|DOID:1068 - juvenile glaucoma|DOID:9467 - nail-patella syndrome 494816 smarca5 DOID:83 - cataract 494826 fscn2 DOID:0110406 - retinitis pigmentosa 30|DOID:10584 - retinitis pigmentosa 494835 sgce DOID:0090033 - myoclonic dystonia|DOID:0090034 - myoclonic dystonia 11 494930 des.1 DOID:0080092 - myofibrillar myopathy 1|DOID:0110431 - dilated cardiomyopathy 1I|DOID:0111551 - neurogenic scapuloperoneal syndrome Kaeser type 494949 rac2 DOID:0112064 - immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis 494977 bap1 DOID:6039 - uveal melanoma 495015 hnrnpdl DOID:0110306 - autosomal dominant limb-girdle muscular dystrophy type 3 495034 cited2 DOID:0110113 - atrial heart septal defect 8|DOID:1657 - ventricular septal defect 495052 sumf1 DOID:0050441 - mucosulfatidosis 495062 ndufv1 DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1|DOID:3652 - Leigh disease|DOID:4252 - Alexander disease 495118 fus DOID:0060198 - amyotrophic lateral sclerosis type 6|DOID:332 - amyotrophic lateral sclerosis|DOID:4990 - essential tremor 495378 pot1 DOID:1040 - chronic lymphocytic leukemia 495402 flrt1 DOID:0060491 - SPOAN syndrome 852665 amelx DOID:0110058 - amelogenesis imperfecta type 1E 852693 tgfa DOID:0050591 - tooth agenesis 852728 gyg1 DOID:0050579 - glycogen storage disease XV 852756 kmt5b DOID:0080232 - autosomal dominant mental retardation 51 852770 sftpc DOID:0050156 - idiopathic pulmonary fibrosis|DOID:12120 - pulmonary alveolar proteinosis 852782 ndp DOID:0050535 - exudative vitreoretinopathy|DOID:0060282 - persistent hyperplastic primary vitreous|DOID:0060844 - Norrie disease 852806 adnp DOID:0070058 - Helsmoortel-Van Der Aa Syndrome 852842 dmd.2 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0060561 - DMD-related dilated cardiomyopathy|DOID:0081164 - dilated cardiomyopathy 3B|DOID:0110461 - X-linked dilated cardiomyopathy|DOID:11723 - Duchenne muscular dystrophy|DOID:9883 - Becker muscular dystrophy 852873 dcc DOID:0111153 - congenital mirror movement disorder|DOID:3614 - Kallmann syndrome|DOID:5041 - esophageal cancer|DOID:9256 - colorectal cancer 852904 tusc3 DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081183 - autosomal recessive intellectual developmental disorder 7|DOID:10283 - prostate cancer 852913 mmp20 DOID:0110057 - amelogenesis imperfecta type 2A1|DOID:0110060 - amelogenesis imperfecta hypomaturation type 2A2 852956 erf DOID:2339 - Crouzon syndrome|DOID:2340 - craniosynostosis 852973 msx2 DOID:0060285 - parietal foramina|DOID:2340 - craniosynostosis 852985 fbxw4 DOID:0090025 - split hand-foot malformation 3 853002 alx4 DOID:0060285 - parietal foramina|DOID:0081046 - frontonasal dysplasia 2 853010 grip1 DOID:0090001 - Fraser syndrome|DOID:0111405 - Fraser syndrome 1|DOID:0111406 - Fraser syndrome 3 853020 tgif1 DOID:0110698 - hypotrichosis 1|DOID:0110880 - holoprosencephaly 4 853056 dlx5 DOID:0090020 - split hand-foot malformation|DOID:0090024 - split hand-foot malformation 1 with sensorineural hearing loss 853069 cux1 DOID:0060307 - autosomal dominant intellectual developmental disorder 853081 aurka DOID:9256 - colorectal cancer 853094 alx1 DOID:0081047 - frontonasal dysplasia 3 853107 en2 DOID:12849 - autistic disorder 853165 vsx1 DOID:0060457 - posterior polymorphous corneal dystrophy|DOID:0110855 - posterior polymorphous corneal dystrophy 1|DOID:10126 - keratoconus 853183 dlx6 DOID:0090020 - split hand-foot malformation 853212 apoe DOID:0110014 - age related macular degeneration 1|DOID:0110035 - Alzheimer's disease 2|DOID:0110040 - Alzheimer's disease 4|DOID:3145 - hyperlipoproteinemia type III|DOID:4423 - sea-blue histiocytosis 853265 cp DOID:0050711 - aceruloplasminemia 853273 nipbl DOID:11725 - Cornelia de Lange syndrome 853289 egr2 DOID:0050540 - Charcot-Marie-Tooth disease type 3|DOID:0110150 - Charcot-Marie-Tooth disease type 1D|DOID:0110195 - Charcot-Marie-Tooth disease type 4E 853300 upk3a DOID:14766 - renal agenesis 853368 erbb3 DOID:0060560 - lethal congenital contracture syndrome 2 853396 cebpa DOID:9119 - acute myeloid leukemia 853603 vps13b DOID:0111590 - Cohen syndrome 853608 spag1 DOID:0050144 - Kartagener syndrome|DOID:0110607 - primary ciliary dyskinesia 28 853640 pou4f3 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110546 - autosomal dominant nonsyndromic deafness 15 853647 foxj1 DOID:0050144 - Kartagener syndrome|DOID:4481 - allergic rhinitis 853668 slc24a5 DOID:0080614 - oculocutaneous albinism type VI 853686 slc17a5 DOID:3659 - sialuria 853730 zfhx3 DOID:10283 - prostate cancer 853774 vsx2 DOID:0060839 - isolated microphthalmia 2|DOID:10629 - microphthalmia 853785 ambn DOID:0110065 - amelogenesis imperfecta type 1F 853792 prom1 DOID:0050572 - cone-rod dystrophy|DOID:0050817 - Stargardt disease|DOID:0070517 - retinal macular dystrophy 2|DOID:0110376 - retinitis pigmentosa 41|DOID:0111019 - cone-rod dystrophy 12|DOID:10584 - retinitis pigmentosa 853856 phox2a DOID:0080143 - congenital fibrosis of the extraocular muscles|DOID:0081016 - congenital fibrosis of the extraocular muscles 2 853922 etv6 DOID:0111344 - myeloproliferative disorder with eosinophilia|DOID:9119 - acute myeloid leukemia 853932 ptpn22 DOID:7148 - rheumatoid arthritis|DOID:9074 - systemic lupus erythematosus|DOID:9744 - type 1 diabetes mellitus 853954 ocln DOID:0050656 - pseudo-TORCH syndrome 1 853971 cftr DOID:0111864 - autosomal recessive congenital bilateral absence of vas deferens|DOID:1485 - cystic fibrosis|DOID:4989 - pancreatitis|DOID:9563 - bronchiectasis 854021 hps3 DOID:0060539 - Hermansky-Pudlak syndrome 1|DOID:0060541 - Hermansky-Pudlak syndrome 3 854096 pou1f1 DOID:0060872 - isolated growth hormone deficiency type II|DOID:9406 - hypopituitarism 854192 ovol2 DOID:0060457 - posterior polymorphous corneal dystrophy|DOID:0110855 - posterior polymorphous corneal dystrophy 1 854456 chrnb2 DOID:0060681 - autosomal dominant nocturnal frontal lobe epilepsy|DOID:0060684 - autosomal dominant nocturnal frontal lobe epilepsy 3 854472 adar DOID:0050629 - Aicardi-Goutieres syndrome|DOID:0060257 - dyschromatosis symmetrica hereditaria 854494 pkhd1 DOID:0050876 - Caroli disease|DOID:0110861 - autosomal recessive polycystic kidney disease 854508 cd247 DOID:0111942 - immunodeficiency 25 854542 dnah5 DOID:0050144 - Kartagener syndrome|DOID:0110599 - primary ciliary dyskinesia 3 854549 dync1h1 DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070043 - autosomal dominant intellectual developmental disorder 13|DOID:0070351 - spinal muscular atrophy with lower extremity predominant 1|DOID:0110175 - Charcot-Marie-Tooth disease axonal type 2O 854591 hps6 DOID:0060539 - Hermansky-Pudlak syndrome 1|DOID:0060544 - Hermansky-Pudlak syndrome 6 854650 psenen DOID:0060256 - Dowling-Degos disease|DOID:2280 - hidradenitis suppurativa 854693 dnai2 DOID:0050144 - Kartagener syndrome|DOID:0110622 - primary ciliary dyskinesia 9 854703 nprl2 DOID:0081422 - familial focal epilepsy with variable foci 2 854776 prdm5 DOID:14775 - brittle cornea syndrome 1 854813 rtn4ip1 DOID:0111434 - optic atrophy 10 854835 hycc1 DOID:0060793 - hypomyelinating leukodystrophy 5 854850 dnal4 DOID:0111153 - congenital mirror movement disorder 854876 psen2 DOID:0110040 - Alzheimer's disease 4|DOID:0110427 - dilated cardiomyopathy 1V 854887 mapkapk3 DOID:0060865 - patterned macular dystrophy 3 854909 palld DOID:4905 - pancreatic carcinoma 855492 ifngr2.2 DOID:0111955 - immunodeficiency 27A|DOID:0111995 - immunodeficiency 28 855610 mn1 DOID:4586 - familial meningioma 855644 osbpl2 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110588 - autosomal dominant nonsyndromic deafness 67 855698 slc5a1 DOID:4194 - glucose metabolism disease 855712 mstn.2 DOID:0111072 - myostatin-related muscle hypertrophy 855714 umod.3 DOID:0060062 - familial juvenile hyperuricemic nephropathy 855716 umod.2 DOID:0060062 - familial juvenile hyperuricemic nephropathy 855718 slc26a3.1 DOID:0060296 - congenital secretory chloride diarrhea 1 855724 kmt2d DOID:0060473 - Kabuki syndrome 855790 appl1 DOID:0050524 - maturity-onset diabetes of the young 855850 ifnar2.2 DOID:0111994 - immunodeficiency 45 855917 cox6a1 DOID:0110203 - Charcot-Marie-Tooth disease recessive intermediate D 855929 acads DOID:0080154 - short chain acyl-CoA dehydrogenase deficiency 855963 ppib DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110340 - osteogenesis imperfecta type 4|DOID:0110341 - osteogenesis imperfecta type 2|DOID:0110349 - osteogenesis imperfecta type 9 856239 kdm5b DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081226 - autosomal recessive intellectual developmental disorder 65 856480 prkar1a DOID:0050471 - Carney complex|DOID:0060280 - primary pigmented nodular adrenocortical disease|DOID:14669 - acrodysostosis|DOID:3969 - thyroid gland papillary carcinoma 856536 plxnd1 DOID:13501 - Moebius syndrome 862913 ctcf DOID:0070051 - autosomal dominant intellectual developmental disorder 21 866804 slc12a3 DOID:0050450 - Gitelman syndrome 867524 ext1 DOID:206 - hereditary multiple exostoses|DOID:3371 - chondrosarcoma|DOID:4998 - trichorhinophalangeal syndrome type II 867541 ext2 DOID:206 - hereditary multiple exostoses 868352 camk2a DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0080228 - autosomal dominant intellectual developmental disorder 53|DOID:0081224 - autosomal recessive intellectual developmental disorder 63 868376 nanos1 DOID:0070171 - spermatogenic failure 12|DOID:14227 - azoospermia 868397 camk2b DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0080230 - autosomal dominant intellectual developmental disorder 54 868442 plag1 DOID:452 - pleomorphic adenoma 868498 diaph3 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0060690 - autosomal dominant auditory neuropathy 1 876278 neurog3 DOID:0060779 - congenital malabsorptive diarrhea 4 876409 irf6 DOID:0050591 - tooth agenesis|DOID:0060055 - popliteal pterygium syndrome|DOID:0060239 - Van der Woude syndrome 876464 hes7.1 DOID:0050568 - spondylocostal dysostosis|DOID:0112364 - spondylocostal dysostosis 4 876491 myo18b DOID:0080592 - Klippel-Feil syndrome 4 876521 ikzf1 DOID:0081155 - common variable immunodeficiency 13 876550 prkcg DOID:0050964 - spinocerebellar ataxia type 14 876601 gja1 DOID:0050467 - erythrokeratodermia variabilis|DOID:0050651 - atrioventricular septal defect|DOID:0060291 - oculodentodigital dysplasia|DOID:0080033 - craniometaphyseal dysplasia|DOID:0111244 - palmoplantar keratoderma and congenital alopecia 1|DOID:0111817 - syndactyly type 3|DOID:11193 - syndactyly|DOID:4534 - Hallermann-Streiff syndrome|DOID:9955 - hypoplastic left heart syndrome 876668 col11a2 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0060465 - fibrochondrogenesis|DOID:0080026 - otospondylomegaepiphyseal dysplasia, autosomal recessive|DOID:0080046 - Stickler syndrome|DOID:0080673 - fibrochondrogenesis 2|DOID:0080677 - otospondylomegaepiphyseal dysplasia, autosomal dominant|DOID:0110509 - autosomal recessive nonsyndromic deafness 53|DOID:0110545 - autosomal dominant nonsyndromic deafness 13 876680 cyp21a2.2 DOID:0050811 - congenital adrenal hyperplasia 876697 tgfbr2l DOID:0050466 - Loeys-Dietz syndrome|DOID:5041 - esophageal cancer 876705 smad6.2 DOID:0060912 - craniosynostosis 7|DOID:0080334 - aortic valve disease 2|DOID:1712 - aortic valve stenosis 876839 per3 DOID:0050628 - advanced sleep phase syndrome 876858 kank1 DOID:0081360 - spastic quadriplegic cerebral palsy 2|DOID:10970 - spastic quadriplegic cerebral palsy 876968 mpz DOID:0050540 - Charcot-Marie-Tooth disease type 3|DOID:0110152 - Charcot-Marie-Tooth disease type 1B|DOID:0110157 - Charcot-Marie-Tooth disease type 2J|DOID:0110158 - Charcot-Marie-Tooth disease type 2I|DOID:0110195 - Charcot-Marie-Tooth disease type 4E|DOID:0110200 - Charcot-Marie-Tooth disease dominant intermediate D 876976 gal.1 DOID:0060754 - familial temporal lobe epilepsy 8 877003 wnk1 DOID:0070155 - hereditary sensory and autonomic neuropathy type 2A|DOID:0070161 - hereditary sensory and autonomic neuropathy type 2 877014 serpinf2 DOID:0060601 - alpha-2-plasmin inhibitor deficiency 877063 tmie DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110512 - autosomal recessive nonsyndromic deafness 6 877076 erbb4 DOID:0060210 - amyotrophic lateral sclerosis type 19|DOID:332 - amyotrophic lateral sclerosis 877156 itpr2 DOID:0060603 - isolated anhidrosis with normal sweat glands 877177 odad3 DOID:0050144 - Kartagener syndrome|DOID:0110624 - primary ciliary dyskinesia 30 877229 chd7 DOID:0050834 - CHARGE syndrome|DOID:0060010 - Omenn syndrome|DOID:0060250 - idiopathic scoliosis|DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090084 - hypogonadotropic hypogonadism 5 with or without anosmia|DOID:3614 - Kallmann syndrome 877243 fastkd2 DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease 877278 trmt10c DOID:0111471 - combined oxidative phosphorylation deficiency 30 877287 aspm DOID:10907 - microcephaly 877326 epb41l1 DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070041 - autosomal dominant intellectual developmental disorder 11 919589 cnbp DOID:0050759 - myotonic dystrophy type 2 919737 foxj1.2 DOID:0050144 - Kartagener syndrome|DOID:4481 - allergic rhinitis 919748 cd3e DOID:0060017 - CD3epsilon deficiency|DOID:0111971 - immunodeficiency 18 919796 grhl3 DOID:0060239 - Van der Woude syndrome 919852 cxcl12 DOID:635 - acquired immunodeficiency syndrome 919871 intu DOID:0080289 - orofaciodigital syndrome XVII 919889 mnx1 DOID:0111546 - Currarino syndrome 919946 rbm28 DOID:0112244 - alopecia, neurologic defects, and endocrinopathy syndrome 919964 des.2 DOID:0080092 - myofibrillar myopathy 1|DOID:0110431 - dilated cardiomyopathy 1I|DOID:0111551 - neurogenic scapuloperoneal syndrome Kaeser type 920012 wdr19 DOID:0050576 - Senior-Loken syndrome|DOID:0050577 - cranioectodermal dysplasia|DOID:0050592 - asphyxiating thoracic dystrophy|DOID:0080033 - craniometaphyseal dysplasia|DOID:0080806 - cranioectodermal dysplasia 4|DOID:0110089 - asphyxiating thoracic dystrophy 5|DOID:0111112 - nephronophthisis 1|DOID:0111121 - nephronophthisis 13 920040 lmx1b.2 DOID:1067 - open-angle glaucoma|DOID:1068 - juvenile glaucoma|DOID:9467 - nail-patella syndrome 920067 nefh DOID:0060193 - amyotrophic lateral sclerosis type 1|DOID:0110180 - Charcot-Marie-Tooth disease axonal type 2CC 920105 dnah1 DOID:0050144 - Kartagener syndrome|DOID:0070165 - spermatogenic failure 18|DOID:0080266 - primary ciliary dyskinesia 37 920151 tpo DOID:0112186 - thyroid dyshormonogenesis 2A 920171 ccbe1 DOID:0060366 - Hennekam syndrome 920189 atxn2 DOID:0050955 - spinocerebellar ataxia type 2|DOID:0060892 - late onset Parkinson's disease|DOID:14330 - Parkinson's disease 920235 fgf23 DOID:0050948 - autosomal dominant hypophosphatemic rickets|DOID:0111063 - hyperphosphatemic familial tumoral calcinosis 920254 armc5 DOID:0111624 - ACTH-independent macronodular adrenal hyperplasia 2 920287 vim.2 DOID:0110235 - cataract 2 multiple types|DOID:0110248 - cataract 30 920361 dhcr7 DOID:14692 - Smith-Lemli-Opitz syndrome 920446 pla2g6 DOID:0060900 - autosomal recessive Parkinson disease 14|DOID:0110735 - neurodegeneration with brain iron accumulation 2a|DOID:0110736 - neurodegeneration with brain iron accumulation 2b 920576 rnpc3 DOID:0060873 - isolated growth hormone deficiency type IA 920721 lmna DOID:0050440 - familial partial lipodystrophy|DOID:0060762 - restrictive dermopathy|DOID:0070202 - familial partial lipodystrophy type 2|DOID:0070247 - autosomal dominant Emery-Dreifuss muscular dystrophy 2|DOID:0070248 - autosomal recessive Emery-Dreifuss muscular dystrophy 3|DOID:0070369 - restrictive dermopathy 1|DOID:0081128 - mandibuloacral dysplasia type A lipodystrophy|DOID:0110156 - Charcot-Marie-Tooth disease type 2B1|DOID:0110301 - autosomal dominant limb-girdle muscular dystrophy type 1B|DOID:0110425 - dilated cardiomyopathy 1A|DOID:0110640 - congenital muscular dystrophy due to LMNA mutation|DOID:0111584 - dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome|DOID:11726 - Emery-Dreifuss muscular dystrophy|DOID:3911 - progeria|DOID:5688 - Werner syndrome 920732 insr DOID:0050470 - Donohue syndrome|DOID:0070220 - familial hyperinsulinemic hypoglycemia 5|DOID:13317 - hyperinsulinemic hypoglycemia 920751 shox DOID:0060847 - Leri-Weill dyschondrosteosis|DOID:0112120 - SHOX-related short stature 920764 itpr1 DOID:0050965 - spinocerebellar ataxia type 15|DOID:0050978 - spinocerebellar ataxia type 29|DOID:0111578 - Gillespie syndrome 920854 men1 DOID:10017 - multiple endocrine neoplasia type 1|DOID:13543 - hyperparathyroidism 921336 porcn DOID:2120 - focal dermal hypoplasia 921442 pdgfrl DOID:684 - hepatocellular carcinoma|DOID:9256 - colorectal cancer 921488 ptprq DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0080269 - autosomal dominant nonsyndromic deafness 73|DOID:0110529 - autosomal recessive nonsyndromic deafness 84A 921493 acan DOID:0112282 - spondyloepiphyseal dysplasia Kimberley type|DOID:84 - osteochondritis dissecans 921509 scn4b DOID:0050650 - familial atrial fibrillation|DOID:0110644 - long QT syndrome 1|DOID:0110651 - long QT syndrome 10 921597 amt DOID:9268 - glycine encephalopathy 921634 gnao1 DOID:0050709 - early infantile epileptic encephalopathy|DOID:0080450 - developmental and epileptic encephalopathy 17|DOID:0112276 - neurodevelopmental disorder with involuntary movements 921738 scn2b DOID:0050650 - familial atrial fibrillation 921759 aipl1 DOID:0110332 - Leber congenital amaurosis 4|DOID:10584 - retinitis pigmentosa|DOID:14791 - Leber congenital amaurosis 921779 gusb DOID:12803 - Sly syndrome 921797 vwf DOID:0060573 - von Willebrand's disease 1|DOID:0060574 - von Willebrand's disease 2|DOID:0111054 - von Willebrand's disease 3|DOID:12531 - von Willebrand's disease 921946 bbs2 DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110124 - Bardet-Biedl syndrome 2|DOID:0110401 - retinitis pigmentosa 74|DOID:10584 - retinitis pigmentosa|DOID:1935 - Bardet-Biedl syndrome 921956 lingo1 DOID:0081225 - autosomal recessive intellectual developmental disorder 64 922049 ccdc103 DOID:0050144 - Kartagener syndrome|DOID:0110621 - primary ciliary dyskinesia 17 922094 agtr2 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112053 - non-syndromic X-linked intellectual disability 88 922240 slc37a4 DOID:0081330 - glycogen storage disease Ib|DOID:0081331 - glycogen storage disease Ic|DOID:2749 - glycogen storage disease Ia 922280 trem2 DOID:0090112 - Nasu-Hakola disease 922295 kirrel3 DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070034 - autosomal dominant intellectual developmental disorder 4 922320 traip DOID:0050569 - Seckel syndrome|DOID:0070005 - Seckel syndrome 9 922335 kcnma1 DOID:0070442 - paroxysmal nonkinesigenic dyskinesia 3 922347 cetp DOID:0111369 - hyperalphalipoproteinemia 1 922380 ldb3 DOID:0080095 - myofibrillar myopathy 4|DOID:0110423 - dilated cardiomyopathy 1C 922444 axl DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia 922455 crlf1 DOID:0060294 - cold-induced sweating syndrome 922469 b2m DOID:0050636 - familial visceral amyloidosis|DOID:0060009 - MHC class I deficiency|DOID:0111981 - immunodeficiency 43 922495 cd79a DOID:0081137 - agammaglobulinemia 3|DOID:2583 - agammaglobulinemia 922515 trio DOID:0070074 - autosomal dominant intellectual developmental disorder 44 922525 vps11 DOID:0060796 - hypomyelinating leukodystrophy 12 922618 als2 DOID:0060194 - amyotrophic lateral sclerosis type 2 922649 gmppb DOID:0050588 - muscular dystrophy-dystroglycanopathy type B1|DOID:0110294 - autosomal recessive limb-girdle muscular dystrophy type 2T|DOID:0112377 - muscular dystrophy-dystroglycanopathy type B14 922836 cdon DOID:0110877 - holoprosencephaly 11 922898 lrig2 DOID:0050816 - urofacial syndrome 922931 ntrk2 DOID:0050562 - West syndrome|DOID:0080285 - developmental and epileptic encephalopathy 58 922951 sema3e DOID:0050834 - CHARGE syndrome|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia 922975 hjv DOID:0111027 - hemochromatosis type 2A|DOID:0111034 - hemochromatosis type 2 923000 ntrk1 DOID:0050547 - familial medullary thyroid carcinoma|DOID:0070146 - hereditary sensory neuropathy type 4 923006 musk DOID:0110670 - congenital myasthenic syndrome 9|DOID:0110679 - congenital myasthenic syndrome 4C|DOID:0111377 - fetal akinesia deformation sequence syndrome 1 923069 ppt1 DOID:0110721 - neuronal ceroid lipofuscinosis 1 923105 elac2 DOID:0111496 - combined oxidative phosphorylation deficiency 17|DOID:10283 - prostate cancer 923292 mylkl DOID:0060610 - megacystis-microcolon-intestinal hypoperistalsis syndrome|DOID:14004 - thoracic aortic aneurysm 923299 pxdn DOID:0060648 - anterior segment dysgenesis|DOID:0080612 - anterior segment dysgenesis 7 923471 vps13d DOID:0111611 - autosomal recessive spinocerebellar ataxia 4 939788 abhd5 DOID:0050729 - Chanarin-Dorfman syndrome 940048 pla2g7 DOID:2841 - asthma 940057 slc18a2 DOID:0070490 - infantile parkinsonism-dystonia 2 940090 tnfrsf11b DOID:0081368 - Paget's disease of bone 5 940129 hcn4 DOID:0050451 - Brugada syndrome|DOID:0110225 - Brugada syndrome 8|DOID:13884 - sick sinus syndrome 940168 kcnv2 DOID:0050795 - cone dystrophy|DOID:0081022 - retinal cone dystrophy 3B 940171 mlxipl DOID:1928 - Williams-Beuren syndrome 940177 fas DOID:6688 - autoimmune lymphoproliferative syndrome 940348 slc34a3 DOID:0050947 - hereditary hypophosphatemic rickets with hypercalciuria 940356 asxl1 DOID:0050908 - myelodysplastic syndrome|DOID:4797 - SM-AHNMD 940479 ctsc DOID:1474 - aggressive periodontitis|DOID:3389 - Papillon-Lefevre disease 940503 arl6 DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110125 - Bardet-Biedl syndrome 3|DOID:10584 - retinitis pigmentosa|DOID:1935 - Bardet-Biedl syndrome 940619 evc2 DOID:0111571 - Weyers acrofacial dysostosis|DOID:12714 - Ellis-Van Creveld syndrome 940646 chrm3 DOID:0060889 - prune belly syndrome 940693 sco2 DOID:0050713 - COX deficiency, infantile mitochondrial myopathy|DOID:0080357 - mitochondrial complex IV deficiency nuclear type 2|DOID:11830 - myopia 940701 reep1 DOID:0110782 - hereditary spastic paraplegia 31|DOID:0111205 - autosomal dominant distal hereditary motor neuronopathy 12 940705 prkra DOID:0090048 - dystonia 16 940726 scarf2 DOID:0111699 - Van den Ende-Gupta syndrome 940729 antxr2 DOID:0111669 - hyaline fibromatosis syndrome 940770 agpat2 DOID:0111135 - congenital generalized lipodystrophy type 1 940794 sgo1 DOID:0060339 - chronic atrial and intestinal dysrhythmia 941047 st3gal3 DOID:0050562 - West syndrome|DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081180 - autosomal recessive intellectual developmental disorder 12 941151 vps35 DOID:0060892 - late onset Parkinson's disease|DOID:0060897 - Parkinson disease 17 941216 zc4h2 DOID:0060815 - Miles-Carpenter syndrome 941285 snap29 DOID:0060337 - CEDNIK syndrome 941394 hps4 DOID:0060539 - Hermansky-Pudlak syndrome 1|DOID:0060542 - Hermansky-Pudlak syndrome 4 941458 coq7 DOID:0070245 - primary coenzyme Q10 deficiency 8 941625 f9 DOID:0080665 - warfarin resistance|DOID:0111899 - X-linked thrombophilia due to factor IX defect|DOID:12259 - hemophilia B 941636 opa3 DOID:0110004 - 3-methylglutaconic aciduria type 3|DOID:0111433 - optic atrophy 3|DOID:5723 - optic atrophy 941643 rtn2 DOID:0110765 - hereditary spastic paraplegia 12 941706 tpmt DOID:0080172 - thiopurine S-methyltransferase deficiency 941730 atp6v1b2 DOID:0080720 - autosomal dominant congenital deafness with onychodystrophy 941759 tnfrsf10b DOID:5520 - head and neck squamous cell carcinoma 941773 tspan7 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112024 - non-syndromic X-linked intellectual disability 58 941797 ap4s1 DOID:0110804 - hereditary spastic paraplegia 52 941817 cdin1 DOID:0111397 - congenital dyserythropoietic anemia type Ib|DOID:1338 - congenital dyserythropoietic anemia 941864 chmp4b DOID:0110265 - cataract 31 multiple types 941922 apoa5 DOID:0111421 - familial apolipoprotein A5 deficiency|DOID:1171 - hyperlipoproteinemia type V|DOID:1172 - hyperlipoproteinemia type IV 941954 aagab DOID:0080214 - punctate palmoplantar keratoderma type I 942055 ube2t DOID:0111081 - Fanconi anemia complementation group T|DOID:13636 - Fanconi anemia 942222 spata7 DOID:0110331 - Leber congenital amaurosis 3|DOID:10584 - retinitis pigmentosa|DOID:14791 - Leber congenital amaurosis 942248 hpgd DOID:14283 - primary hypertrophic osteoarthropathy 942342 snx10 DOID:0110940 - autosomal recessive osteopetrosis 8 942373 mplkip DOID:0050528 - nonphotosensitive trichothiodystrophy 4 942458 trim2 DOID:0110161 - Charcot-Marie-Tooth disease type 2R 942526 cyp27b1 DOID:0080886 - vitamin D-dependent rickets type 1A|DOID:10609 - rickets 942661 aldh3a2 DOID:14501 - Sjogren-Larsson syndrome 942770 rgs4 DOID:0070085 - schizophrenia 9 942831 ncf4 DOID:0070194 - autosomal recessive chronic granulomatous disease 3|DOID:3265 - chronic granulomatous disease 942885 myoz2 DOID:0110322 - hypertrophic cardiomyopathy 16 942944 osgep DOID:0060364 - Galloway-Mowat syndrome 1|DOID:0080245 - Galloway-Mowat syndrome 3 942993 irf1 DOID:0080764 - hereditary diffuse gastric cancer|DOID:0090016 - chromosome 5q deletion syndrome|DOID:10534 - stomach cancer|DOID:1324 - lung cancer 943007 bcl2 DOID:0050873 - follicular lymphoma 943035 nbn DOID:12449 - aplastic anemia|DOID:7400 - Nijmegen breakage syndrome|DOID:9952 - acute lymphoblastic leukemia 943054 me2 DOID:1827 - idiopathic generalized epilepsy 943221 etfa DOID:0060358 - multiple acyl-CoA dehydrogenase deficiency 943306 sgcb DOID:0110279 - autosomal recessive limb-girdle muscular dystrophy type 2E 943337 chic2 DOID:9119 - acute myeloid leukemia 943372 txn2 DOID:0111501 - combined oxidative phosphorylation deficiency 29 943386 arl2bp DOID:0110419 - retinitis pigmentosa with or without situs inversus|DOID:10584 - retinitis pigmentosa 943456 cfap300 DOID:0050144 - Kartagener syndrome|DOID:0111852 - primary ciliary dyskinesia 38 943467 kars1 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110204 - Charcot-Marie-Tooth disease recessive intermediate B|DOID:0110534 - autosomal recessive nonsyndromic deafness 89 943504 aass DOID:9274 - hyperlysinemia 943549 hmbs.2 DOID:3890 - acute intermittent porphyria 943597 prkag2 DOID:0090101 - lethal congenital glycogen storage disease of heart|DOID:0110312 - hypertrophic cardiomyopathy 6|DOID:384 - Wolff-Parkinson-White syndrome 943657 optn DOID:0060203 - amyotrophic lateral sclerosis type 12|DOID:1070 - primary open angle glaucoma|DOID:332 - amyotrophic lateral sclerosis 943668 phyh DOID:10582 - Refsum disease 943836 tor1a DOID:0060730 - torsion dystonia 1 943860 syp DOID:0050776 - non-syndromic X-linked intellectual disability 944057 gpi DOID:2861 - congenital nonspherocytic hemolytic anemia 944079 pepd DOID:0111540 - prolidase deficiency 944115 fh DOID:0111261 - fumarase deficiency 944134 rnaset2 DOID:0081007 - RNASET2-deficient cystic leukoencephalopathy 944208 sar1b DOID:0060357 - chylomicron retention disease 944391 afg3l2 DOID:0050944 - spastic ataxia 5|DOID:0050977 - spinocerebellar ataxia type 28 944425 gfi1b DOID:0111044 - gray platelet syndrome|DOID:0111049 - platelet-type bleeding disorder 17|DOID:2223 - platelet storage pool deficiency 944434 pomt1 DOID:0050560 - Walker-Warburg syndrome|DOID:0050588 - muscular dystrophy-dystroglycanopathy type B1|DOID:0110297 - autosomal recessive limb-girdle muscular dystrophy type 2K 944496 gna11 DOID:0060701 - familial hypocalciuric hypercalcemia 2|DOID:0090108 - autosomal dominant hypocalcemia 2|DOID:0090109 - autosomal dominant hypocalcemia|DOID:6039 - uveal melanoma 944548 lyrm4 DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111476 - combined oxidative phosphorylation deficiency 19 944559 fars2 DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0110822 - hereditary spastic paraplegia 77|DOID:0111477 - combined oxidative phosphorylation deficiency 14 944566 atp5f1a DOID:0060333 - mitochondrial complex V (ATP synthase) deficiency nuclear type 4|DOID:0070462 - mitochondrial complex V (ATP synthase) deficiency nuclear type 4B|DOID:0111143 - mitochondrial complex V (ATP synthase) deficiency|DOID:0111498 - combined oxidative phosphorylation deficiency 22 944602 nars2 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0111485 - combined oxidative phosphorylation deficiency 24 944682 tdrd7 DOID:0110247 - cataract 36 944761 cog6 DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070264 - congenital disorder of glycosylation type IIl 944849 hk1 DOID:0110196 - Charcot-Marie-Tooth disease type 4G 944904 rp9 DOID:0110387 - retinitis pigmentosa 9|DOID:10584 - retinitis pigmentosa 944929 poc1b DOID:0050572 - cone-rod dystrophy|DOID:0111026 - cone-rod dystrophy 20 944986 pcca DOID:14701 - propionic acidemia 945025 serpinf1 DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110340 - osteogenesis imperfecta type 4|DOID:0110350 - osteogenesis imperfecta type 6 945062 pdss2 DOID:0050730 - coenzyme Q10 deficiency disease|DOID:0070238 - primary coenzyme Q10 deficiency 1|DOID:0070240 - primary coenzyme Q10 deficiency 3 945083 entpd1 DOID:0110815 - hereditary spastic paraplegia 64 945142 stxbp1 DOID:0050562 - West syndrome|DOID:0050709 - early infantile epileptic encephalopathy|DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0080436 - developmental and epileptic encephalopathy 4|DOID:2481 - infantile epileptic encephalopathy 945241 cd82 DOID:10283 - prostate cancer 945336 dpf2 DOID:0112369 - Coffin-Siris syndrome 7|DOID:1925 - Coffin-Siris syndrome 945366 pde6g DOID:0110407 - retinitis pigmentosa 57|DOID:10584 - retinitis pigmentosa 945378 edar DOID:0111663 - ectodermal dysplasia 10A|DOID:0111665 - ectodermal dysplasia 10B|DOID:14793 - hypohidrotic ectodermal dysplasia 945387 adam10 DOID:0060258 - reticulate acropigmentation of Kitamura|DOID:0110050 - Alzheimer's disease 18 945434 mrpl3 DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111472 - combined oxidative phosphorylation deficiency 9 945585 colec10 DOID:0060225 - 3MC syndrome|DOID:0060577 - 3MC syndrome 3 945642 hspb8 DOID:0110174 - Charcot-Marie-Tooth disease axonal type 2L|DOID:0111206 - autosomal dominant distal hereditary motor neuronopathy 2 945668 atl1 DOID:0070156 - hereditary sensory neuropathy type ID|DOID:0070162 - hereditary sensory and autonomic neuropathy type 1|DOID:0110791 - hereditary spastic paraplegia 3A 945800 gnptg DOID:0080071 - mucolipidosis III alpha/beta|DOID:0080678 - mucolipidosis III gamma 945839 rnaseh2a DOID:0050629 - Aicardi-Goutieres syndrome 945876 ndufs8 DOID:0060536 - mitochondrial complex I deficiency|DOID:3652 - Leigh disease 945925 coq6 DOID:0050730 - coenzyme Q10 deficiency disease|DOID:0070243 - primary coenzyme Q10 deficiency 6 945970 mhc2-dcb DOID:7148 - rheumatoid arthritis 946064 brf1 DOID:0080898 - cerebellofaciodental syndrome 946115 coq8a DOID:0050730 - coenzyme Q10 deficiency disease|DOID:0070238 - primary coenzyme Q10 deficiency 1|DOID:0070241 - primary coenzyme Q10 deficiency 4 946128 atad3a DOID:0081395 - Harel-Yoon syndrome 946142 sptlc2 DOID:0070157 - hereditary sensory and autonomic neuropathy type 1C|DOID:0070162 - hereditary sensory and autonomic neuropathy type 1 946219 cd81 DOID:0081149 - common variable immunodeficiency 6|DOID:12177 - common variable immunodeficiency 946234 rspo2 DOID:0112193 - tetraamelia syndrome 2 946365 blnk DOID:2583 - agammaglobulinemia 946379 ppp2r2b DOID:0050962 - spinocerebellar ataxia type 12 946426 lrpap1 DOID:11830 - myopia 946481 tgds DOID:0081122 - Catel Manzke syndrome 946569 myl3 DOID:0110314 - hypertrophic cardiomyopathy 8 946666 dnaaf11 DOID:0050144 - Kartagener syndrome|DOID:0110608 - primary ciliary dyskinesia 19 947108 ppp1r17 DOID:13810 - familial hypercholesterolemia 947113 aip DOID:0112009 - pituitary adenoma 1|DOID:5394 - prolactinoma|DOID:6255 - growth hormone secreting pituitary adenoma|DOID:7004 - ACTH-secreting pituitary adenoma 947125 pgk1 DOID:0111933 - phosphoglycerate kinase 1 deficiency 947166 akr1d1 DOID:0111069 - congenital bile acid synthesis defect 2 947202 capn5 DOID:9719 - neovascular inflammatory vitreoretinopathy 947216 pgap3 DOID:0070436 - hyperphosphatasia with impaired intellectual development syndrome 4 947315 gc DOID:12361 - Graves' disease|DOID:7997 - thyrotoxicosis 947328 spint2 DOID:0060781 - congenital secretory sodium diarrhea 3 947349 dcps DOID:0060308 - autosomal recessive intellectual developmental disorder 947406 tubb4a DOID:0060798 - hypomyelinating leukodystrophy 6|DOID:0090041 - torsion dystonia 4 947418 ndufs4 DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1|DOID:3652 - Leigh disease 947452 p2ry12 DOID:0060692 - platelet-type bleeding disorder 8 947461 gamt DOID:0050799 - guanidinoacetate methyltransferase deficiency 947504 btbd9 DOID:0050425 - restless legs syndrome 947543 ephx2 DOID:13810 - familial hypercholesterolemia 947643 stxbp2 DOID:0110921 - familial hemophagocytic lymphohistiocytosis 1|DOID:0110925 - familial hemophagocytic lymphohistiocytosis 5 947652 pigp DOID:0050709 - early infantile epileptic encephalopathy|DOID:0080283 - developmental and epileptic encephalopathy 55 947684 slc45a2 DOID:0050632 - oculocutaneous albinism|DOID:0070098 - oculocutaneous albinism type IV 947773 gnas DOID:0080053 - Albright's hereditary osteodystrophy|DOID:0080222 - pseudohypoparathyroidism type IB|DOID:0111535 - progressive osseous heteroplasia|DOID:0111623 - ACTH-independent macronodular adrenal hyperplasia 1|DOID:0112009 - pituitary adenoma 1|DOID:0112010 - pituitary adenoma 3|DOID:1858 - McCune Albright syndrome|DOID:4183 - pseudopseudohypoparathyroidism|DOID:4184 - pseudohypoparathyroidism|DOID:6255 - growth hormone secreting pituitary adenoma|DOID:7004 - ACTH-secreting pituitary adenoma 947838 spast DOID:0110792 - hereditary spastic paraplegia 4 947912 ergic1 DOID:0090124 - neurogenic-type arthrogryposis multiplex congenita-2 947968 stim1 DOID:0060354 - Stormorken syndrome|DOID:0080089 - tubular aggregate myopathy 1|DOID:0111970 - immunodeficiency 10 948021 scarb2 DOID:0111444 - progressive myoclonus epilepsy 4|DOID:3535 - Unverricht-Lundborg syndrome|DOID:891 - progressive myoclonus epilepsy 948071 tkt DOID:10915 - Wernicke-Korsakoff syndrome 948100 folr1 DOID:0050719 - cerebral folate receptor alpha deficiency 948145 ndufa2 DOID:3652 - Leigh disease 948282 bsnd DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110145 - Bartter disease type 4a 948373 gnpat DOID:0110852 - rhizomelic chondrodysplasia punctata type 2 948442 serpini1 DOID:0050831 - familial encephalopathy with neuroserpin inclusion bodies 948464 pld1 DOID:0080633 - developmental cardiac valvular defect 948492 urod DOID:3132 - porphyria cutanea tarda|DOID:5230 - hepatoerythropoietic porphyria 948526 pgm1 DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080570 - congenital disorder of glycosylation It 948556 ube3a DOID:1932 - Angelman syndrome 948567 cnga3 DOID:0050572 - cone-rod dystrophy|DOID:0110007 - achromatopsia 2|DOID:13911 - achromatopsia 948574 bcl10 DOID:0050909 - extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue|DOID:0060060 - non-Hodgkin lymphoma|DOID:0111939 - immunodeficiency 37|DOID:1790 - malignant mesothelioma|DOID:2998 - testicular cancer|DOID:4440 - seminoma|DOID:5557 - testicular germ cell cancer 948669 usb1 DOID:0060551 - poikiloderma with neutropenia|DOID:2729 - dyskeratosis congenita 948679 coq9 DOID:0050730 - coenzyme Q10 deficiency disease|DOID:0070242 - primary coenzyme Q10 deficiency 5 948742 sncaip DOID:0060892 - late onset Parkinson's disease|DOID:14330 - Parkinson's disease 948768 snap25 DOID:0110683 - congenital myasthenic syndrome 18 948819 chmp2b DOID:0060208 - amyotrophic lateral sclerosis type 17|DOID:0111227 - chromosome 3-linked frontotemporal dementia|DOID:332 - amyotrophic lateral sclerosis|DOID:9255 - frontotemporal dementia 948845 xiap DOID:0060705 - X-linked lymphoproliferative syndrome 1|DOID:0060706 - X-linked lymphoproliferative syndrome 2 948858 zdhhc15 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112043 - non-syndromic X-linked intellectual disability 91 948933 tango2 DOID:0081386 - TANGO2-related metabolic encephalopathy and arrythmias 948946 comt DOID:5419 - schizophrenia|DOID:594 - panic disorder 948991 ggt1 DOID:0111257 - gamma-glutamyl transpeptidase deficiency 949065 pibf1 DOID:0050777 - Joubert syndrome|DOID:0080279 - Joubert syndrome 33 949108 scnn1b DOID:0050477 - Liddle syndrome|DOID:0060854 - autosomal recessive pseudohypoaldosteronism type 1|DOID:9563 - bronchiectasis 949135 ndufa10 DOID:3652 - Leigh disease 949305 ap4b1 DOID:0110799 - hereditary spastic paraplegia 47 949326 grin2b DOID:0050562 - West syndrome|DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070036 - autosomal dominant intellectual developmental disorder 6|DOID:0080444 - developmental and epileptic encephalopathy 27 949344 cdc73 DOID:13543 - hyperparathyroidism|DOID:1540 - parathyroid carcinoma 949356 gpsm2 DOID:0050565 - autosomal recessive nonsyndromic deafness 949373 grm6 DOID:0050534 - congenital stationary night blindness|DOID:0110865 - congenital stationary night blindness 1B 949398 xylt1 DOID:0060462 - Desbuquois dysplasia|DOID:2738 - pseudoxanthoma elasticum 949441 plin1 DOID:0050440 - familial partial lipodystrophy|DOID:0070205 - familial partial lipodystrophy type 4 949448 strc DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0070173 - spermatogenic failure 7|DOID:0110471 - autosomal recessive nonsyndromic deafness 16|DOID:14227 - azoospermia 949451 sstr5 DOID:0112009 - pituitary adenoma 1|DOID:6255 - growth hormone secreting pituitary adenoma 949517 sgcd DOID:0110280 - autosomal recessive limb-girdle muscular dystrophy type 2F|DOID:0110436 - dilated cardiomyopathy 1L 949550 ndufa9 DOID:3652 - Leigh disease 949569 ttc7a DOID:14671 - multiple intestinal atresia 949714 ggcx DOID:0112173 - combined deficiency of vitamin K-dependent clotting factors 1 949772 arhgef6 DOID:0050776 - non-syndromic X-linked intellectual disability 949778 eml1 DOID:0111169 - subcortical band heterotopia 949791 ercc2 DOID:0050427 - xeroderma pigmentosum|DOID:0080912 - cerebrooculofacioskeletal syndrome 2|DOID:0110845 - xeroderma pigmentosum group D|DOID:0111873 - photosensitive trichothiodystrophy 1|DOID:2960 - photosensitive trichothiodystrophy 949800 dmpk DOID:11722 - myotonic dystrophy type 1 949876 ikbkb DOID:0111959 - immunodeficiency 15B 949923 nyx DOID:0050534 - congenital stationary night blindness|DOID:0110870 - congenital stationary night blindness 1A 949930 clcn4 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112060 - Raynaud-Claes syndrome 950016 ahcy DOID:0111039 - hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 950049 mpzl2 DOID:0050565 - autosomal recessive nonsyndromic deafness 950077 ppp2r1b DOID:1324 - lung cancer 950134 plpbp DOID:0080769 - early-onset vitamin B6-dependent epilepsy 1 950143 erlin2 DOID:0110771 - hereditary spastic paraplegia 18 950250 arf1 DOID:0050454 - periventricular nodular heterotopia 950264 hcn1 DOID:0060170 - generalized epilepsy with febrile seizures plus 950278 klhdc8b DOID:8567 - Hodgkin's lymphoma 950296 cpox DOID:13269 - hereditary coproporphyria 950362 cog5 DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070261 - congenital disorder of glycosylation type IIi 950379 slc26a4.3 DOID:0050332 - enlarged vestibular aqueduct|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0060744 - Pendred Syndrome|DOID:0110498 - autosomal recessive nonsyndromic deafness 4 950441 ptpn1 DOID:9352 - type 2 diabetes mellitus 950489 slc2a10 DOID:0050645 - arterial tortuosity syndrome 950500 ada DOID:0060010 - Omenn syndrome|DOID:5810 - adenosine deaminase deficiency 950567 tdp1 DOID:0090115 - spinocerebellar ataxia with axonal neuropathy 1 950678 mlf1 DOID:9119 - acute myeloid leukemia 950695 gmps DOID:9119 - acute myeloid leukemia 950719 dnah11 DOID:0050144 - Kartagener syndrome|DOID:0110605 - primary ciliary dyskinesia 7 950754 chd2 DOID:0050561 - Lennox-Gastaut syndrome|DOID:0060475 - myoclonic-atonic epilepsy|DOID:0081325 - developmental and epileptic encephalopathy 94 950761 agbl1 DOID:11555 - Fuchs' endothelial dystrophy 950816 sag DOID:0110369 - retinitis pigmentosa 47|DOID:0110712 - Oguchi disease-1|DOID:10584 - retinitis pigmentosa 950838 agxt DOID:0111670 - primary hyperoxaluria type 1 950873 chn1 DOID:12557 - Duane retraction syndrome 950908 adcy1 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110501 - autosomal recessive nonsyndromic deafness 44 950953 cnga1 DOID:0110377 - retinitis pigmentosa 49|DOID:10584 - retinitis pigmentosa 951019 lrba DOID:0081151 - common variable immunodeficiency 8|DOID:12177 - common variable immunodeficiency 951075 cdkl5 DOID:0050562 - West syndrome|DOID:0050709 - early infantile epileptic encephalopathy|DOID:0080467 - developmental and epileptic encephalopathy 2|DOID:1206 - Rett syndrome 951193 polr3h DOID:14450 - 46 XX gonadal dysgenesis 951258 gorab DOID:0111266 - geroderma osteodysplasticum 951277 hccs DOID:0111808 - linear skin defects with multiple congenital anomalies 1|DOID:10629 - microphthalmia 951349 ywhag DOID:0080282 - developmental and epileptic encephalopathy 56 951362 por DOID:0050462 - Antley-Bixler syndrome with disordered steroidogenesis|DOID:0080925 - cytochrome P450 oxidoreductase deficiency|DOID:0081290 - Antley-Bixler syndrome without disordered steroidogenesis 951381 tbx4 DOID:0111382 - ischiocoxopodopatellar syndrome 951459 cyp1b1 DOID:0060673 - Peters anomaly|DOID:0080610 - anterior segment dysgenesis 5|DOID:0080611 - anterior segment dysgenesis 6|DOID:1067 - open-angle glaucoma|DOID:1068 - juvenile glaucoma|DOID:1070 - primary open angle glaucoma|DOID:11211 - buphthalmos 951522 pnkd DOID:0090049 - paroxysmal nonkinesigenic dyskinesia 1 951529 dnajb2 DOID:0110160 - Charcot-Marie-Tooth disease axonal type 2T|DOID:0111214 - autosomal recessive distal hereditary motor neuronopathy 5 951544 lpl DOID:13809 - familial combined hyperlipidemia|DOID:14118 - familial lipoprotein lipase deficiency 951560 sh3gl1 DOID:9119 - acute myeloid leukemia 951582 b3glct DOID:0080201 - Peters plus syndrome 951632 lpp DOID:9119 - acute myeloid leukemia 951704 pigc DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081223 - glycosylphosphatidylinositol biosynthesis defect 16 951754 kif2a DOID:0090134 - complex cortical dysplasia with other brain malformations 3 951822 egf DOID:0060882 - renal hypomagnesemia 4 952013 stx11 DOID:0110921 - familial hemophagocytic lymphohistiocytosis 1|DOID:0110924 - familial hemophagocytic lymphohistiocytosis 4 952038 kcnk9 DOID:0050675 - Birk-Barel syndrome 952068 slc39a5 DOID:11830 - myopia 952101 aff2 DOID:0080984 - X-linked intellectual developmental disorder 109 952106 bbs4 DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110126 - Bardet-Biedl syndrome 4|DOID:1935 - Bardet-Biedl syndrome 952134 calcr DOID:11476 - osteoporosis 952209 gucy2c DOID:0060780 - congenital diarrhea 6 952285 cenpe DOID:0050569 - Seckel syndrome 952295 bank1 DOID:9074 - systemic lupus erythematosus 952298 ppp3ca DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0080472 - infantile or early childhood epileptic encephalopathy 1 952345 elovl5 DOID:0050985 - spinocerebellar ataxia type 38 952371 taf1 DOID:0090057 - X-linked dystonia-parkinsonism 952393 yap1 DOID:0111249 - uveal coloboma-cleft lip and palate-intellectual disability 952430 plcg2 DOID:0090064 - familial cold autoinflammatory syndrome 3 952451 atp6ap1 DOID:0112002 - immunodeficiency 47 952498 dpagt1 DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080562 - congenital disorder of glycosylation Ij|DOID:0110676 - congenital myasthenic syndrome 13 952505 colec11 DOID:0060225 - 3MC syndrome|DOID:0060576 - 3MC syndrome 2 952521 slmap DOID:0050451 - Brugada syndrome 952547 cep63 DOID:0070006 - Seckel syndrome 6 952585 sucla2 DOID:0080120 - mitochondrial DNA depletion syndrome 2|DOID:0080121 - mitochondrial DNA depletion syndrome 3|DOID:0080124 - mitochondrial DNA depletion syndrome 5 952650 cln8 DOID:0110723 - neuronal ceroid lipofuscinosis 8|DOID:0110724 - neuronal ceroid lipofuscinosis 8 northern epilepsy variant 952668 pdha1 DOID:3649 - pyruvate decarboxylase deficiency 952752 dclre1c DOID:0060006 - artemis deficiency|DOID:0060010 - Omenn syndrome|DOID:0090012 - severe combined immunodeficiency with sensitivity to ionizing radiation 952813 prnp DOID:0050433 - fatal familial insomnia|DOID:0090103 - Huntington's disease-like 1|DOID:11949 - Creutzfeldt-Jakob disease|DOID:4249 - Gerstmann-Straussler-Scheinker syndrome 952838 cep83 DOID:0111124 - nephronophthisis 16|DOID:0111125 - nephronophthisis 18 952865 pc.1 DOID:3651 - pyruvate carboxylase deficiency disease 952912 nrxn1 DOID:0111332 - Pitt-Hopkins-like syndrome 2|DOID:12849 - autistic disorder 952971 minpp1 DOID:3962 - thyroid gland follicular carcinoma 952976 lipa DOID:0080217 - lysosomal acid lipase deficiency|DOID:14497 - Wolman disease|DOID:14502 - cholesterol ester storage disease 953026 dync2i2 DOID:0110095 - short-rib thoracic dysplasia 11 with or without polydactyly 953035 abcd1 DOID:10588 - adrenoleukodystrophy 953086 manf DOID:4905 - pancreatic carcinoma 953256 slc19a2 DOID:0090117 - thiamine-responsive megaloblastic anemia syndrome 953315 psph DOID:0050724 - PSPH deficiency 953337 sdccag8 DOID:0050576 - Senior-Loken syndrome|DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110138 - Bardet-Biedl syndrome 16|DOID:1935 - Bardet-Biedl syndrome 953407 grhpr.1 DOID:0111671 - primary hyperoxaluria type 2|DOID:2977 - primary hyperoxaluria 953463 micu1 DOID:0111335 - myopathy with extrapyramidal signs 953523 mbtps2 DOID:0080754 - X-linked keratosis follicularis spinulosa decalvans|DOID:0111821 - ichthyosis follicularis-alopecia-photophobia syndrome 1|DOID:0111847 - osteogenesis imperfecta type 19|DOID:0112012 - X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques 953533 sms DOID:0050888 - syndromic intellectual disability|DOID:0060802 - syndromic X-linked intellectual disability Snyder type 953546 ak7 DOID:0111928 - spermatogenic failure 27 953634 fbxo31 DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081209 - autosomal recessive intellectual developmental disorder 45 953675 ca8 DOID:0050997 - cerebellar ataxia, mental retardation and dysequlibrium syndrome 953692 ttpa DOID:0090028 - familial isolated deficiency of vitamin E 953728 prdm12 DOID:0070153 - hereditary sensory and autonomic neuropathy type 8 953768 elovl4 DOID:0050817 - Stargardt disease|DOID:0050981 - spinocerebellar ataxia type 34 953784 bckdhb DOID:9269 - maple syrup urine disease 953834 abcb1 DOID:0110893 - inflammatory bowel disease 13 953844 hs6st1 DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090075 - hypogonadotropic hypogonadism 15 with or without anosmia|DOID:3614 - Kallmann syndrome 953877 lama2 DOID:0110636 - congenital merosin-deficient muscular dystrophy 1A 953894 cyp19a1 DOID:0090122 - aromatase excess syndrome 953966 agrn DOID:0110657 - congenital myasthenic syndrome 8 954174 pex10 DOID:0080622 - peroxisome biogenesis disorder 2B|DOID:10588 - adrenoleukodystrophy|DOID:905 - Zellweger syndrome 954189 fbn1 DOID:0050475 - Weill-Marchesani syndrome|DOID:0111148 - isolated ectopia lentis|DOID:0111150 - autosomal dominant isolated ectopia lentis 1|DOID:0111243 - acromicric dysplasia|DOID:0111561 - stiff skin syndrome|DOID:0111726 - geleophysic dysplasia 2|DOID:14323 - Marfan syndrome|DOID:2340 - craniosynostosis 954236 wars1 DOID:0111212 - autosomal dominant distal hereditary motor neuronopathy 9 954250 nin DOID:0070011 - Seckel syndrome 7 954260 ldlrap1 DOID:0090105 - autosomal recessive hypercholesterolemia 954284 zmpste24 DOID:0060762 - restrictive dermopathy|DOID:0070369 - restrictive dermopathy 1|DOID:0081129 - mandibuloacral dysplasia type B lipodystrophy|DOID:3911 - progeria 954329 sp7 DOID:0110340 - osteogenesis imperfecta type 4|DOID:0110348 - osteogenesis imperfecta type 12 954343 neb DOID:0110928 - nemaline myopathy 2 954413 galnt3 DOID:0111063 - hyperphosphatemic familial tumoral calcinosis 954419 letm1 DOID:0050460 - Wolf-Hirschhorn syndrome 954585 tor1aip1 DOID:0110289 - autosomal recessive limb-girdle muscular dystrophy type 2Y 954595 bbs9 DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110131 - Bardet-Biedl syndrome 9|DOID:1935 - Bardet-Biedl syndrome 954607 cox10 DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3652 - Leigh disease|DOID:3762 - cytochrome-c oxidase deficiency disease 954658 cldn19 DOID:0060881 - renal hypomagnesemia 5 with ocular involvement 954752 jph1 DOID:0110167 - Charcot-Marie-Tooth disease axonal type 2K 954849 lrmda DOID:0070100 - oculocutaneous albinism type VII 954871 foxn1 DOID:0060769 - T-cell immunodeficiency, congenital alopecia, and nail dystrophy 954876 unc119 DOID:0050572 - cone-rod dystrophy|DOID:0111987 - immunodeficiency 13 954917 lgi1 DOID:0060748 - familial temporal lobe epilepsy 1|DOID:3070 - high grade glioma 954957 pex3 DOID:905 - Zellweger syndrome 955008 opn1lw DOID:0050572 - cone-rod dystrophy|DOID:0050679 - blue cone monochromacy|DOID:13910 - red color blindness 955027 emd DOID:11726 - Emery-Dreifuss muscular dystrophy 955037 grid2 DOID:0080042 - autosomal recessive spinocerebellar ataxia 18 955040 picalml DOID:9119 - acute myeloid leukemia 955051 ndst1 DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081210 - autosomal recessive intellectual developmental disorder 46 955076 ncstn DOID:2280 - hidradenitis suppurativa 955105 st3gal5 DOID:0060470 - salt and pepper syndrome 955122 pdhx DOID:3649 - pyruvate decarboxylase deficiency 955228 agrp DOID:9970 - obesity 955278 stk11 DOID:2998 - testicular cancer|DOID:3852 - Peutz-Jeghers syndrome|DOID:4440 - seminoma|DOID:4905 - pancreatic carcinoma|DOID:5557 - testicular germ cell cancer 955301 pygm DOID:2746 - glycogen storage disease V 955317 slc45a1 DOID:0060308 - autosomal recessive intellectual developmental disorder 955413 plod1 DOID:13359 - Ehlers-Danlos syndrome 955440 scn3b DOID:0050451 - Brugada syndrome|DOID:0050650 - familial atrial fibrillation|DOID:0110224 - Brugada syndrome 7 955451 tbk1 DOID:0110069 - frontotemporal dementia and/or amyotrophic lateral sclerosis-4 955477 cog8 DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070260 - congenital disorder of glycosylation type IIh 955546 lipc DOID:9352 - type 2 diabetes mellitus 955553 bdnf DOID:0060731 - congenital central hypoventilation syndrome|DOID:12129 - bulimia nervosa 955608 hpd DOID:0050727 - tyrosinemia type III|DOID:0111362 - hawkinsinuria 955640 myot DOID:0080091 - obsolete spheroid body myopathy|DOID:0080094 - myofibrillar myopathy 3|DOID:0110300 - autosomal dominant limb-girdle muscular dystrophy type 1A 955660 uba5 DOID:0080424 - developmental and epileptic encephalopathy 44|DOID:0111615 - autosomal recessive spinocerebellar ataxia 24 955753 ano10 DOID:0050999 - autosomal recessive spinocerebellar ataxia 10 955797 gjb2 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0050566 - X-linked nonsyndromic deafness|DOID:0050658 - Bart-Pumphrey syndrome|DOID:0060871 - autosomal dominant keratitis-ichthyosis-deafness syndrome|DOID:0110475 - autosomal recessive nonsyndromic deafness 1A|DOID:0110564 - autosomal dominant nonsyndromic deafness 3A|DOID:0111339 - Vohwinkel syndrome|DOID:0111505 - palmoplantar keratoderma-deafness syndrome|DOID:0111737 - X-linked deafness 2|DOID:10003 - sensorineural hearing loss 955838 pnpo DOID:0111329 - pyridoxamine 5'-phosphate oxidase deficiency 955965 rars1 DOID:0060791 - hypomyelinating leukodystrophy 9 956060 gcsh DOID:9268 - glycine encephalopathy 956080 kcnk3 DOID:14557 - primary pulmonary hypertension 956097 etfb DOID:0060358 - multiple acyl-CoA dehydrogenase deficiency 956110 taok1 DOID:0060307 - autosomal dominant intellectual developmental disorder 956127 cryba1 DOID:0110258 - cataract 10 multiple types 956204 lars2 DOID:0050857 - Perrault syndrome 956214 ezh2 DOID:14731 - Weaver syndrome 956229 cntnap2 DOID:0090130 - cortical dysplasia-focal epilepsy syndrome 956282 atxn7 DOID:0050958 - spinocerebellar ataxia type 7 956329 synj1 DOID:0060898 - early-onset Parkinson disease 20|DOID:0080464 - developmental and epileptic encephalopathy 53 956337 ripply2.1 DOID:0112360 - spondylocostal dysostosis 6 956381 znf711 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112046 - non-syndromic X-linked intellectual disability 97 956388 chm DOID:9821 - choroideremia 956408 zap70 DOID:0111943 - immunodeficiency 48 956422 sgcg DOID:0110277 - autosomal recessive limb-girdle muscular dystrophy type 2C 956544 ppm1k DOID:9269 - maple syrup urine disease 956597 ndufb9 DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1 956630 bscl2 DOID:0110770 - hereditary spastic paraplegia 17|DOID:0111136 - congenital generalized lipodystrophy type 2|DOID:0111203 - autosomal dominant distal hereditary motor neuronopathy 5|DOID:0111204 - obsolete distal hereditary motor neuronopathy type 5A 956687 arl3 DOID:0050777 - Joubert syndrome|DOID:10584 - retinitis pigmentosa 956709 cnnm4 DOID:0111404 - Jalili syndrome 956712 gnb3 DOID:0050534 - congenital stationary night blindness|DOID:0110866 - congenital stationary night blindness 1H|DOID:10825 - essential hypertension 956766 coq8b DOID:1184 - nephrotic syndrome 956773 cyp2a6.13 DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer 956799 xdh DOID:0060236 - xanthinuria|DOID:0070452 - xanthinuria type I 956857 klf11 DOID:0050524 - maturity-onset diabetes of the young|DOID:0111106 - maturity-onset diabetes of the young type 7 956941 sdha DOID:0050773 - paraganglioma|DOID:0060537 - mitochondrial complex II deficiency|DOID:0110435 - dilated cardiomyopathy 1GG|DOID:3652 - Leigh disease|DOID:9253 - gastrointestinal stromal tumor 957006 cubn DOID:13382 - megaloblastic anemia 957018 adam22 DOID:0080434 - developmental and epileptic encephalopathy 61 957162 emp2 DOID:1184 - nephrotic syndrome 957261 lins1 DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081193 - autosomal recessive intellectual developmental disorder 27 957266 cers3 DOID:0060718 - autosomal recessive congenital ichthyosis 9|DOID:1699 - congenital ichthyosiform erythroderma 957296 ush2a DOID:0110360 - retinitis pigmentosa 39|DOID:0110827 - Usher syndrome type 2|DOID:0110838 - Usher syndrome type 2A|DOID:10584 - retinitis pigmentosa 957336 col25a1.1 DOID:0060261 - congenital ptosis|DOID:0081020 - congenital fibrosis of the extraocular muscles 5|DOID:12557 - Duane retraction syndrome 957339 ccdc28b DOID:0110123 - Bardet-Biedl syndrome 1 957400 pum1 DOID:0111743 - cerebellar ataxia type 47 957431 ctps1 DOID:0111938 - immunodeficiency 24 957444 pth1r DOID:0060387 - chondrodysplasia Blomstrand type|DOID:0080020 - Jansen's metaphyseal chondrodysplasia|DOID:0111341 - primary failure of tooth eruption|DOID:0111732 - Eiken syndrome|DOID:4624 - Ollier disease 957447 impdh1 DOID:0110216 - Leber congenital amaurosis 11|DOID:0110388 - retinitis pigmentosa 10|DOID:10584 - retinitis pigmentosa|DOID:14791 - Leber congenital amaurosis 957493 abat DOID:0060174 - GABA aminotransferase deficiency 957547 trmt5 DOID:0111490 - combined oxidative phosphorylation deficiency 26 957582 smc3 DOID:11725 - Cornelia de Lange syndrome 957612 cdh23 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110467 - autosomal recessive nonsyndromic deafness 12|DOID:0110826 - Usher syndrome type 1|DOID:0110831 - Usher syndrome type 1D|DOID:0112008 - pituitary adenoma 5 957672 zfhx4 DOID:0060261 - congenital ptosis 957683 g6pd DOID:2861 - congenital nonspherocytic hemolytic anemia 957702 huwe1 DOID:0060810 - syndromic X-linked intellectual disability type 10|DOID:0060811 - syndromic X-linked intellectual disability Turner type 957719 itk DOID:0060707 - lymphoproliferative syndrome 1 957741 bloc1s6 DOID:0060547 - Hermansky-Pudlak syndrome 9 957774 hoga1 DOID:0111672 - primary hyperoxaluria type 3|DOID:2977 - primary hyperoxaluria 957955 mre11 DOID:0081384 - ataxia-telangiectasia-like disorder-1 958126 slc30a8 DOID:9352 - type 2 diabetes mellitus 958153 clic5 DOID:0050565 - autosomal recessive nonsyndromic deafness 958178 trpm6 DOID:0060883 - intestinal hypomagnesemia 1 958328 tph2 DOID:1595 - melancholic depression 958407 kcnc3 DOID:0050963 - spinocerebellar ataxia type 13 958441 aimp1 DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0060790 - hypomyelinating leukodystrophy 3 958504 map3k8 DOID:1324 - lung cancer 958511 mtpap DOID:0050943 - spastic ataxia 4 958576 anxa11 DOID:0080225 - amyotrophic lateral sclerosis type 23|DOID:332 - amyotrophic lateral sclerosis 958590 pcm1 DOID:3969 - thyroid gland papillary carcinoma 958697 man2b1 DOID:3413 - alpha-mannosidosis 958718 acadl DOID:0080155 - very long chain acyl-CoA dehydrogenase deficiency 958769 agbl5 DOID:0110361 - retinitis pigmentosa 75|DOID:10584 - retinitis pigmentosa 958812 wars2 DOID:0060308 - autosomal recessive intellectual developmental disorder 958854 rogdi DOID:0111668 - Kohlschutter-Tonz syndrome 958955 emg1 DOID:0050684 - Bowen-Conradi syndrome 959027 neu1 DOID:3343 - glycoproteinosis 959053 pthlh DOID:0110976 - brachydactyly type E2 959218 hadha DOID:0111277 - mitochondrial trifunctional protein deficiency 959236 syn2 DOID:5419 - schizophrenia 959256 dnm2 DOID:0110197 - Charcot-Marie-Tooth disease dominant intermediate B|DOID:14717 - centronuclear myopathy 959301 cyb5a DOID:0112316 - methemoglobinemia and ambiguous genitalia 959375 pick1 DOID:0111156 - spermatogenic failure 9 959402 pnpla6 DOID:0110790 - hereditary spastic paraplegia 39|DOID:0111265 - Boucher-Neuhauser syndrome|DOID:0111271 - Oliver-McFarlane syndrome|DOID:1930 - Laurence-Moon syndrome 959414 cyba DOID:0070193 - autosomal recessive chronic granulomatous disease 4|DOID:3265 - chronic granulomatous disease 959459 aldh4a1 DOID:0080543 - hyperprolinemia type 2 959468 eps15l1 DOID:0090020 - split hand-foot malformation 959494 dbh DOID:0060892 - late onset Parkinson's disease|DOID:0090145 - dopamine beta-hydroxylase deficiency|DOID:14330 - Parkinson's disease 959497 yars2 DOID:0080099 - myopathy, lactic acidosis, and sideroblastic anemia 959528 dnmt3a DOID:0112339 - Tatton-Brown-Rahman syndrome|DOID:9119 - acute myeloid leukemia 959580 dnaaf4 DOID:0050144 - Kartagener syndrome|DOID:0110615 - primary ciliary dyskinesia 25 959677 atxn10 DOID:0050960 - spinocerebellar ataxia type 10 959855 pomgnt1 DOID:0050560 - Walker-Warburg syndrome|DOID:0110292 - autosomal recessive limb-girdle muscular dystrophy type 2O|DOID:0112378 - muscular dystrophy-dystroglycanopathy type B3|DOID:10584 - retinitis pigmentosa 959866 sf3b1 DOID:0050908 - myelodysplastic syndrome 959880 pms1 DOID:3883 - Lynch syndrome 959926 dpys DOID:0111629 - dihydropyrimidinase deficiency 960068 cln5 DOID:0110728 - neuronal ceroid lipofuscinosis 5 960100 naa15 DOID:0080233 - autosomal dominant intellectual developmental disorder 50 960118 ung DOID:0060759 - immunodeficiency with hyper IgM type 5 960227 hspa9 DOID:0060335 - autosomal dominant sideroblastic anemia 960249 rpl15 DOID:0111882 - Diamond-Blackfan anemia 12|DOID:1339 - Diamond-Blackfan anemia 960266 tmem127 DOID:0050771 - pheochromocytoma 960285 gnrh1 DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090072 - hypogonadotropic hypogonadism 12 with or without anosmia|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia 960303 mmp21 DOID:758 - situs inversus 960310 lzts1 DOID:5041 - esophageal cancer 960315 kdm6a DOID:0060473 - Kabuki syndrome 960364 ing1 DOID:0050866 - oral squamous cell carcinoma|DOID:2876 - laryngeal squamous cell carcinoma|DOID:5520 - head and neck squamous cell carcinoma 960379 ercc5 DOID:0050427 - xeroderma pigmentosum|DOID:0080913 - cerebrooculofacioskeletal syndrome 3|DOID:0110849 - xeroderma pigmentosum group G 960431 itgb6 DOID:0110055 - amelogenesis imperfecta type 3A|DOID:0110064 - amelogenesis imperfecta type 1H 960469 kif1a DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070039 - NESCAV syndrome|DOID:0070147 - hereditary sensory neuropathy type 2C|DOID:0070161 - hereditary sensory and autonomic neuropathy type 2|DOID:0110781 - hereditary spastic paraplegia 30 960490 hsd11b1 DOID:0090139 - cortisone reductase deficiency|DOID:0090140 - cortisone reductase deficiency 2|DOID:0090141 - cortisone reductase deficiency 1 960508 rp1l1 DOID:0050578 - occult macular dystrophy 960511 b4galnt1 DOID:0110777 - hereditary spastic paraplegia 26 960552 gfi1 DOID:0050590 - severe congenital neutropenia|DOID:0080625 - severe congenital neutropenia 1|DOID:0112131 - severe congenital neutropenia 2 960555 tfg DOID:0050539 - Charcot-Marie-Tooth disease type 2|DOID:0110809 - hereditary spastic paraplegia 57|DOID:4549 - extraskeletal myxoid chondrosarcoma|DOID:6496 - obsolete extraskeletal myxoid chondrosarcoma 960571 gas2l2 DOID:0050144 - Kartagener syndrome 960581 espn DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110494 - autosomal recessive nonsyndromic deafness 36 960607 znf408 DOID:0050535 - exudative vitreoretinopathy|DOID:0110395 - retinitis pigmentosa 72|DOID:0111410 - exudative vitreoretinopathy 6|DOID:10584 - retinitis pigmentosa 960624 cdc14a DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110491 - autosomal recessive nonsyndromic deafness 32 960698 slc12a6 DOID:0060600 - hereditary motor and sensory neuropathy with agenesis of the corpus callosum|DOID:0090003 - agenesis of the corpus callosum with peripheral neuropathy|DOID:0111750 - adult-onset ataxia and polyneuropathy 960721 mc4r DOID:9970 - obesity 960724 pign DOID:0080138 - multiple congenital anomalies-hypotonia-seizures syndrome 1 960753 fech DOID:13270 - erythropoietic protoporphyria 960778 cyp11a1 DOID:0050546 - congenital adrenal insufficiency|DOID:0050811 - congenital adrenal hyperplasia 960788 pstpip1 DOID:0080519 - PAPA syndrome 960793 agps DOID:0110853 - rhizomelic chondrodysplasia punctata type 3 960802 wipf1 DOID:9169 - Wiskott-Aldrich syndrome 960841 trpm4 DOID:0050451 - Brugada syndrome|DOID:0050467 - erythrokeratodermia variabilis|DOID:0111073 - progressive familial heart block|DOID:0111076 - progressive familial heart block type IB 960884 chst6 DOID:2565 - macular corneal dystrophy 960938 zmynd11 DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070060 - autosomal dominant intellectual developmental disorder 30 960956 atp6v0a2 DOID:0070134 - autosomal recessive cutis laxa type IIA|DOID:0070136 - autosomal dominant cutis laxa 2|DOID:0112171 - wrinkly skin syndrome|DOID:3144 - cutis laxa 960984 cpa6 DOID:0060752 - familial temporal lobe epilepsy 5|DOID:0111308 - familial febrile seizures 11 960991 srp54 DOID:0060479 - Shwachman-Diamond syndrome|DOID:0080023 - obsolete Shwachman-Diamond type metaphyseal dysplasia 961018 pde6b DOID:0050534 - congenital stationary night blindness|DOID:0110375 - retinitis pigmentosa 40|DOID:0110863 - congenital stationary night blindness autosomal dominant 2|DOID:10584 - retinitis pigmentosa 961069 zmynd10 DOID:0050144 - Kartagener syndrome|DOID:0110597 - primary ciliary dyskinesia 22 961196 col8a2 DOID:0060457 - posterior polymorphous corneal dystrophy|DOID:0110855 - posterior polymorphous corneal dystrophy 1|DOID:0110856 - posterior polymorphous corneal dystrophy 2|DOID:11555 - Fuchs' endothelial dystrophy 961230 ndufs1 DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1 961346 reep2 DOID:0110817 - hereditary spastic paraplegia 72A 961356 ddhd1 DOID:0110779 - hereditary spastic paraplegia 28 961364 gch1 DOID:0090043 - dystonia 5|DOID:0112225 - BH4-deficient hyperphenylalaninemia B 961408 rp2 DOID:0110415 - retinitis pigmentosa 2|DOID:10584 - retinitis pigmentosa 961418 nipa1 DOID:0110811 - hereditary spastic paraplegia 6 961433 eif2b3 DOID:0060868 - leukoencephalopathy with vanishing white matter|DOID:0070374 - leukoencephalopathy with vanishing white matter 1 961469 slc46a1 DOID:0111678 - hereditary folate malabsorption 961504 cep104 DOID:0050777 - Joubert syndrome|DOID:0110994 - Joubert syndrome 25 961512 fbxl4 DOID:0080131 - mitochondrial DNA depletion syndrome 13 961534 slc5a7 DOID:0110661 - congenital myasthenic syndrome 20|DOID:0111199 - autosomal dominant distal hereditary motor neuronopathy 7 961540 gk DOID:0060363 - glycerol kinase deficiency 961571 bfsp2 DOID:0110235 - cataract 2 multiple types|DOID:0110239 - cataract 12 multiple types|DOID:0110266 - cataract 9 multiple types 961628 cplane1 DOID:0050777 - Joubert syndrome|DOID:0060376 - Joubert syndrome with orofaciodigital defect|DOID:0110980 - Joubert syndrome 1|DOID:0110986 - Joubert syndrome 17 961648 tmem43 DOID:0070252 - autosomal dominant Emery-Dreifuss muscular dystrophy 7|DOID:0110074 - arrhythmogenic right ventricular dysplasia 5 961654 uroc1 DOID:0112180 - urocanase deficiency 961669 ppp1cb DOID:0080693 - Noonan syndrome-like disorder with loose anagen hair 2 961681 vps45 DOID:0050590 - severe congenital neutropenia|DOID:0112132 - severe congenital neutropenia 5 961722 adamts10 DOID:0050475 - Weill-Marchesani syndrome 961744 foxp1 DOID:0111331 - intellectual disability-severe speech delay-mild dysmorphism syndrome 961763 pak3 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112051 - non-syndromic X-linked intellectual disability 30 961824 itga8 DOID:0080200 - bilateral renal aplasia|DOID:14766 - renal agenesis 961882 chsy1 DOID:0050814 - temtamy preaxial brachydactyly syndrome 961979 exosc8 DOID:0112334 - pontocerebellar hypoplasia type 1C 962084 arsb DOID:12800 - mucopolysaccharidosis VI 962103 pnmt DOID:10825 - essential hypertension 962174 alad DOID:3133 - acute porphyria 962221 sepsecs DOID:0060270 - pontocerebellar hypoplasia type 2D 962244 atcay DOID:0060694 - Cayman type cerebellar ataxia 962280 tub DOID:10584 - retinitis pigmentosa 962319 kcne1 DOID:0110644 - long QT syndrome 1|DOID:0110647 - long QT syndrome 5|DOID:2842 - Jervell-Lange Nielsen syndrome 962359 cacnb2 DOID:0050451 - Brugada syndrome|DOID:0110221 - Brugada syndrome 4 962371 ldlr DOID:13810 - familial hypercholesterolemia 962384 gtf2e2 DOID:0111872 - nonphotosensitive trichothiodystrophy 6 962405 rom1 DOID:0110383 - retinitis pigmentosa 7|DOID:10584 - retinitis pigmentosa 962434 cog2 DOID:0070269 - congenital disorder of glycosylation type IIq 962448 las1l DOID:0060814 - Wilson-Turner syndrome 962455 lamp2 DOID:0050437 - Danon disease 962529 nthl1 DOID:0080411 - familial adenomatous polyposis 3 962542 ebf3 DOID:0081176 - hypotonia, ataxia, and delayed development syndrome 962568 snta1 DOID:0110644 - long QT syndrome 1|DOID:0110653 - long QT syndrome 12 962590 apoa1 DOID:0050636 - familial visceral amyloidosis|DOID:0080957 - primary hypoalphalipoproteinemia 1 962622 nsun2 DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081181 - autosomal recessive intellectual developmental disorder 5|DOID:14796 - Dubowitz syndrome 962677 mcm6 DOID:10604 - lactose intolerance 962773 nek2 DOID:0110359 - retinitis pigmentosa 67|DOID:10584 - retinitis pigmentosa 962825 orai1 DOID:0060354 - Stormorken syndrome|DOID:0080089 - tubular aggregate myopathy 1|DOID:0080686 - tubular aggregate myopathy 2|DOID:0111976 - immunodeficiency 9 962904 cav3.1 DOID:0060255 - rippling muscle disease 2|DOID:0110302 - autosomal dominant limb-girdle muscular dystrophy type 1C|DOID:0110307 - hypertrophic cardiomyopathy 1|DOID:0110644 - long QT syndrome 1|DOID:0110650 - long QT syndrome 9|DOID:0111191 - distal myopathy Tateyama type|DOID:0111338 - isolated elevated serum creatine phosphokinase levels 962999 auh DOID:0110002 - 3-methylglutaconic aciduria type 1 963021 dph1 DOID:0070477 - diphthamide deficiency syndrome 1 963049 ndufv2 DOID:0060536 - mitochondrial complex I deficiency|DOID:0060892 - late onset Parkinson's disease|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1|DOID:14330 - Parkinson's disease 963067 acaa1 DOID:0090031 - D-bifunctional protein deficiency 963078 gars1 DOID:0110164 - Charcot-Marie-Tooth disease type 2D|DOID:0111203 - autosomal dominant distal hereditary motor neuronopathy 5|DOID:0111204 - obsolete distal hereditary motor neuronopathy type 5A 963121 pigl DOID:0112152 - CHIME syndrome 963272 ubiad1 DOID:0060456 - Schnyder corneal dystrophy 963354 tbc1d20 DOID:0110719 - Warburg micro syndrome 4 963399 cpt2 DOID:0060235 - carnitine palmitoyltransferase II deficiency 963434 slc40a1 DOID:0111028 - hemochromatosis type 4 963486 mmachc DOID:0050715 - methylmalonic aciduria and homocystinuria type cblC 963522 aars1 DOID:0110177 - Charcot-Marie-Tooth disease axonal type 2N 963540 orc6 DOID:0060306 - Meier-Gorlin syndrome 963574 lyrm7 DOID:0080117 - mitochondrial complex III deficiency nuclear type 8|DOID:0111139 - mitochondrial complex III deficiency 963627 cul4b DOID:0060822 - syndromic X-linked intellectual disability Cabezas type 963671 pus1 DOID:0080099 - myopathy, lactic acidosis, and sideroblastic anemia 963708 ednrb DOID:0050600 - ABCD syndrome|DOID:0110953 - Waardenburg syndrome type 4A 963728 ccnf DOID:332 - amyotrophic lateral sclerosis 963744 ftcd DOID:0111679 - glutamate formiminotransferase deficiency 963756 neurod1 DOID:0050524 - maturity-onset diabetes of the young|DOID:0111104 - maturity-onset diabetes of the young type 6|DOID:9352 - type 2 diabetes mellitus 963772 ucp1 DOID:9970 - obesity 963783 myo1h DOID:0060731 - congenital central hypoventilation syndrome 963935 abcg5 DOID:0090019 - sitosterolemia 963940 ngly1 DOID:0060728 - NGLY1-deficiency 963988 g6pc1 DOID:2749 - glycogen storage disease Ia 964071 relb DOID:0111992 - immunodeficiency 53 964256 fhl1 DOID:0060253 - scapuloperoneal myopathy|DOID:0070251 - X-linked Emery-Dreifuss muscular dystrophy 6|DOID:0080090 - reducing body myopathy 1A|DOID:0080687 - reducing body myopathy 1B|DOID:0112148 - Uruguay faciocardiomusculoskeletal syndrome|DOID:11726 - Emery-Dreifuss muscular dystrophy 964269 fkrp DOID:0050560 - Walker-Warburg syndrome|DOID:0110299 - autosomal recessive limb-girdle muscular dystrophy type 2I|DOID:0110635 - muscular dystrophy-dystroglycanopathy type B5 964274 ddhd2 DOID:0110806 - hereditary spastic paraplegia 54 964294 rhobtb2 DOID:0070375 - developmental and epileptic encephalopathy 64 964300 atp6ap2 DOID:0060806 - syndromic X-linked intellectual disability Hedera type|DOID:0112105 - X-linked parkinsonism-spasticity syndrome 964391 fah DOID:0050726 - tyrosinemia type I 964418 slc6a17 DOID:0081212 - autosomal recessive intellectual developmental disorder 48 964442 lig4 DOID:0060010 - Omenn syndrome|DOID:0060021 - DNA ligase IV deficiency|DOID:14796 - Dubowitz syndrome|DOID:9538 - multiple myeloma 964467 mocs2 DOID:0111163 - molybdenum cofactor deficiency type B|DOID:0111164 - molybdenum cofactor deficiency type A 964502 cidec DOID:0050440 - familial partial lipodystrophy|DOID:0070203 - familial partial lipodystrophy type 5 964523 cacna2d1 DOID:0050793 - short QT syndrome 964547 mastl DOID:1588 - thrombocytopenia 964566 jph2 DOID:0110323 - hypertrophic cardiomyopathy 17 964687 tm4sf20 DOID:0060244 - specific language impairment 964796 pdk3 DOID:0110207 - Charcot-Marie-Tooth disease X-linked dominant 6 964810 acsf3 DOID:0111263 - combined malonic and methylmalonic acidemia 964836 gas8 DOID:0050144 - Kartagener syndrome|DOID:0110619 - primary ciliary dyskinesia 33 964860 tsfm DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111486 - combined oxidative phosphorylation deficiency 3 965005 glmn DOID:2436 - glomangioma 965028 gale DOID:0111458 - galactose epimerase deficiency|DOID:9870 - galactosemia 965084 slc18a3 DOID:0110672 - congenital myasthenic syndrome 21 965119 cryba2 DOID:0110237 - cataract 42 965183 tal2 DOID:9952 - acute lymphoblastic leukemia 965446 fmo3 DOID:0080361 - trimethylaminuria 965455 dbt DOID:9269 - maple syrup urine disease 965515 cacng2 DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070040 - autosomal dominant intellectual developmental disorder 10 965561 dnmt1 DOID:0050968 - autosomal dominant cerebellar ataxia, deafness and narcolepsy|DOID:0070158 - hereditary sensory neuropathy type 1E 965637 epm2a DOID:3534 - Lafora disease 965886 rps26 DOID:0111888 - Diamond-Blackfan anemia 10|DOID:1339 - Diamond-Blackfan anemia 965953 gatad1 DOID:0110441 - dilated cardiomyopathy 2B 965963 bbs5 DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110127 - Bardet-Biedl syndrome 5|DOID:1935 - Bardet-Biedl syndrome 965985 pigv DOID:0070433 - hyperphosphatasia with impaired intellectual development syndrome 1 966144 ogt DOID:0080240 - non-syndromic X-linked intellectual disability 106 966355 naa10 DOID:0050781 - Ogden syndrome|DOID:0111799 - syndromic microphthalmia 1 966368 sema3a DOID:0050834 - CHARGE syndrome|DOID:0090080 - hypogonadotropic hypogonadism 16 with or without anosmia|DOID:3614 - Kallmann syndrome 966402 figla DOID:0080863 - primary ovarian insufficiency 6|DOID:5426 - primary ovarian insufficiency 966464 prkg1 DOID:14004 - thoracic aortic aneurysm 966504 dolk DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080565 - congenital disorder of glycosylation Im 966554 strada DOID:0070511 - polyhydramnios, megalencephaly, and symptomatic epilepsy 966564 ubtf DOID:0070474 - childhood-onset neurodegeneration with brain atrophy 966696 stub1 DOID:0080029 - autosomal recessive spinocerebellar ataxia 16 966768 rhbdf2 DOID:0111506 - palmoplantar keratoderma-esophageal carcinoma syndrome 966790 eprs1 DOID:0070398 - hypomyelinating leukodystrophy 15 966798 prpf8 DOID:0110403 - retinitis pigmentosa 13|DOID:10584 - retinitis pigmentosa 966857 setx DOID:0050755 - spinocerebellar ataxia with axonal neuropathy 2|DOID:0060196 - amyotrophic lateral sclerosis type 4 966864 ift122 DOID:0050577 - cranioectodermal dysplasia 966886 rho DOID:0050534 - congenital stationary night blindness|DOID:0110372 - retinitis pigmentosa 4|DOID:0110862 - congenital stationary night blindness autosomal dominant 1|DOID:10584 - retinitis pigmentosa|DOID:11105 - fundus albipunctatus 966912 arg1 DOID:9278 - hyperargininemia 966925 exosc3 DOID:0060266 - pontocerebellar hypoplasia type 1B 966993 gmnn DOID:0060306 - Meier-Gorlin syndrome 967012 tdp2 DOID:0111613 - autosomal recessive spinocerebellar ataxia 23 967036 coq2 DOID:0050730 - coenzyme Q10 deficiency disease|DOID:0070238 - primary coenzyme Q10 deficiency 1 967046 alg8 DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080560 - congenital disorder of glycosylation Ih 967058 hikeshi DOID:0060795 - hypomyelinating leukodystrophy 13 967145 aaas DOID:0050602 - triple-A syndrome 967177 rpl26 DOID:0111892 - Diamond-Blackfan anemia 11|DOID:1339 - Diamond-Blackfan anemia 967250 pnpt1 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0110521 - autosomal recessive nonsyndromic deafness 70|DOID:0111467 - combined oxidative phosphorylation deficiency 13 967300 mccc1 DOID:0050710 - 3-methylcrotonyl-CoA carboxylase deficiency|DOID:0080579 - 3-Methylcrotonyl-CoA carboxylase 1 deficiency 967320 eif2ak4 DOID:0081269 - pulmonary venoocclusive disease 2|DOID:5453 - pulmonary venoocclusive disease 967340 ptger2 DOID:0111579 - asthma, nasal polyps, and aspirin intolerance 967379 thbd DOID:0111908 - thrombophilia due to thrombomodulin defect|DOID:2452 - thrombophilia 967530 ccn6 DOID:0090004 - progressive pseudorheumatoid arthropathy of childhood 967644 rps24 DOID:0111887 - Diamond-blackfan anemia 3|DOID:1339 - Diamond-Blackfan anemia 967669 cpn1 DOID:0111583 - carboxypeptidase N deficiency 967730 tmem126a DOID:0111437 - optic atrophy 7 967863 dhodh DOID:0111259 - postaxial acrofacial dysostosis 968173 atp2c1 DOID:0050429 - Hailey-Hailey disease 968205 tsga10 DOID:0111924 - spermatogenic failure 26 968230 ssr4 DOID:0070257 - congenital disorder of glycosylation type IIe|DOID:0080574 - congenital disorder of glycosylation Iy 968253 taf2 DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081205 - autosomal recessive intellectual developmental disorder 40 968578 qdpr DOID:0081130 - BH4-deficient hyperphenylalaninemia C 968641 irf2bpl DOID:0081327 - neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 968659 c9 DOID:0060303 - complement component 9 deficiency|DOID:0110027 - age related macular degeneration 15 968671 smchd1 DOID:0111193 - facioscapulohumeral muscular dystrophy 2|DOID:11727 - facioscapulohumeral muscular dystrophy 968699 rpe65 DOID:0110016 - Leber congenital amaurosis 2|DOID:0110353 - retinitis pigmentosa 20|DOID:10584 - retinitis pigmentosa|DOID:14791 - Leber congenital amaurosis 968712 cfap69 DOID:0111929 - spermatogenic failure 24 968717 myh6 DOID:0110108 - atrial heart septal defect 3|DOID:0110307 - hypertrophic cardiomyopathy 1|DOID:0110320 - hypertrophic cardiomyopathy 14|DOID:0110453 - dilated cardiomyopathy 1EE 968798 rps19 DOID:0111895 - Diamond-Blackfan anemia 1|DOID:1339 - Diamond-Blackfan anemia 968808 xrcc1 DOID:0080260 - autosomal recessive spinocerebellar ataxia 26 968840 klhl40 DOID:0110930 - nemaline myopathy 8 968863 gjc2 DOID:0050580 - hereditary lymphedema|DOID:0060787 - hypomyelinating leukodystrophy 2|DOID:0110796 - hereditary spastic paraplegia 44 969022 usp8 DOID:7004 - ACTH-secreting pituitary adenoma 969039 sars1 DOID:0060308 - autosomal recessive intellectual developmental disorder 969086 fbxo38 DOID:0111210 - autosomal dominant distal hereditary motor neuronopathy 6 969107 bbs10 DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110132 - Bardet-Biedl syndrome 10|DOID:1935 - Bardet-Biedl syndrome 969116 tsen54 DOID:0060267 - pontocerebellar hypoplasia type 2A|DOID:0060273 - pontocerebellar hypoplasia type 4|DOID:0060274 - pontocerebellar hypoplasia type 5 969126 galk1 DOID:14695 - galactokinase deficiency 969235 ube2a DOID:0050888 - syndromic intellectual disability|DOID:0060820 - syndromic X-linked intellectual disability Nascimento type 969276 bag3 DOID:0080097 - myofibrillar myopathy 6|DOID:0110448 - dilated cardiomyopathy 1HH 969316 timm8a DOID:0050757 - deafness-dystonia-optic neuronopathy syndrome 969333 vps37a DOID:0110805 - hereditary spastic paraplegia 53 969407 clpp DOID:0050857 - Perrault syndrome 969446 tubb4b DOID:0112240 - Leber congenital amaurosis with early-onset deafness 969538 hspb3 DOID:0111209 - autosomal dominant distal hereditary motor neuronopathy 4 969572 vcp DOID:0050881 - inclusion body myopathy with Paget disease of bone and frontotemporal dementia|DOID:0060205 - frontotemporal dementia and/or amyotrophic lateral sclerosis-6|DOID:0110168 - Charcot-Marie-Tooth disease type 2Y|DOID:332 - amyotrophic lateral sclerosis 969738 eef2.1 DOID:0050975 - spinocerebellar ataxia type 26 969776 rps10 DOID:0111884 - Diamond-Blackfan anemia 9|DOID:1339 - Diamond-Blackfan anemia 969826 rpl35 DOID:1339 - Diamond-Blackfan anemia 969893 stt3b DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080573 - congenital disorder of glycosylation Ix 969901 gpd1l DOID:0050451 - Brugada syndrome|DOID:0110219 - Brugada syndrome 2 969934 ddx11 DOID:0060535 - Warsaw breakage syndrome 969999 pex26 DOID:0050444 - infantile Refsum disease|DOID:0080622 - peroxisome biogenesis disorder 2B|DOID:0081241 - peroxisome biogenesis disorder 3B|DOID:10582 - Refsum disease|DOID:10588 - adrenoleukodystrophy|DOID:905 - Zellweger syndrome 970009 ap4m1 DOID:0110802 - hereditary spastic paraplegia 50 970068 mpc1 DOID:0080363 - mitochondrial pyruvate carrier deficiency 970083 nfkb2 DOID:0081152 - common variable immunodeficiency 10|DOID:12177 - common variable immunodeficiency 970111 slc6a20 DOID:0112265 - iminoglycinuria 970166 cfap410 DOID:0050572 - cone-rod dystrophy|DOID:0112299 - axial spondylometaphyseal dysplasia|DOID:332 - amyotrophic lateral sclerosis 970192 sdhb DOID:0050657 - Bannayan-Riley-Ruvalcaba syndrome|DOID:0050771 - pheochromocytoma|DOID:0050773 - paraganglioma|DOID:0060537 - mitochondrial complex II deficiency|DOID:0080533 - Carney-Stratakis syndrome|DOID:6457 - Cowden syndrome|DOID:9253 - gastrointestinal stromal tumor 970246 cbx2 DOID:0111776 - 46,XY sex reversal 5|DOID:14448 - 46,XY sex reversal 970500 znf687 DOID:0081369 - Paget's disease of bone 6 970632 rrm2b DOID:0080127 - mitochondrial DNA depletion syndrome 8a|DOID:0111518 - autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5|DOID:12934 - Kearns-Sayre syndrome 970637 gnb4 DOID:0110206 - Charcot-Marie-Tooth disease dominant intermediate F 970700 tcn2 DOID:0050818 - transcobalamin II deficiency 970771 dgcr2 DOID:12583 - velocardiofacial syndrome 970816 crym DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110566 - autosomal dominant nonsyndromic deafness 40 970836 cog7 DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070257 - congenital disorder of glycosylation type IIe 970847 ears2 DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111493 - combined oxidative phosphorylation deficiency 12 970950 cib1 DOID:13777 - epidermodysplasia verruciformis 971083 b9d1 DOID:0050777 - Joubert syndrome|DOID:0050778 - Meckel syndrome|DOID:0110996 - Joubert syndrome 27 971258 nubpl DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1 971378 cryab DOID:0080093 - myofibrillar myopathy 2|DOID:0110250 - cataract 16 multiple types|DOID:0110450 - dilated cardiomyopathy 1II 971396 dstyk DOID:0080206 - CAKUT1|DOID:0110774 - hereditary spastic paraplegia 23 971432 f10 DOID:2222 - factor X deficiency 971450 slc25a20l DOID:0111585 - carnitine-acylcarnitine translocase deficiency 971500 atxn3 DOID:1440 - Machado-Joseph disease 971527 slc33a1 DOID:0110794 - hereditary spastic paraplegia 42 971587 cycs DOID:1588 - thrombocytopenia 971612 klhl7 DOID:0060294 - cold-induced sweating syndrome|DOID:0110386 - retinitis pigmentosa 42|DOID:10584 - retinitis pigmentosa 971656 pura DOID:0070061 - autosomal dominant intellectual developmental disorder 31 971728 unc45b DOID:0110259 - cataract 43 971775 mtap DOID:0080664 - diaphyseal medullary stenosis with malignant fibrous histiocytoma 971787 fktn DOID:0050559 - Fukuyama congenital muscular dystrophy|DOID:0050560 - Walker-Warburg syndrome|DOID:0110296 - autosomal recessive limb-girdle muscular dystrophy type 2M|DOID:0110444 - dilated cardiomyopathy 1X|DOID:0112379 - muscular dystrophy-dystroglycanopathy type B4 971822 cldn16 DOID:0060880 - renal hypomagnesemia 3 971827 ddb2 DOID:0050427 - xeroderma pigmentosum|DOID:0110846 - xeroderma pigmentosum group E 971916 rgs5 DOID:10825 - essential hypertension 971957 vldlr DOID:0050997 - cerebellar ataxia, mental retardation and dysequlibrium syndrome 972153 ids DOID:12799 - mucopolysaccharidosis II 972193 tmem165 DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070263 - congenital disorder of glycosylation type IIk 972266 etfdh DOID:0060358 - multiple acyl-CoA dehydrogenase deficiency 972375 wdr45 DOID:0050562 - West syndrome|DOID:0110739 - neurodegeneration with brain iron accumulation 5 972412 dnajb6 DOID:0110305 - autosomal dominant limb-girdle muscular dystrophy type 1 972470 eif2b1 DOID:0060868 - leukoencephalopathy with vanishing white matter|DOID:0070374 - leukoencephalopathy with vanishing white matter 1 972510 lars1 DOID:0080717 - infantile liver failure syndrome 1 972521 pcna DOID:0081385 - ataxia-telangiectasia-like disorder-2 972563 fto DOID:9970 - obesity 972601 wdr36 DOID:1067 - open-angle glaucoma|DOID:1070 - primary open angle glaucoma 972612 gle1 DOID:0060559 - lethal congenital contracture syndrome 1|DOID:332 - amyotrophic lateral sclerosis 972619 smc1a DOID:11725 - Cornelia de Lange syndrome 972642 eftud2 DOID:0080196 - mandibulofacial dysostosis, Guion-Almeida type 972753 rps23 DOID:0070415 - brachycephaly, trichomegaly, and developmental delay 972825 atpaf2 DOID:0050768 - mitochondrial complex V (ATP synthase) deficiency nuclear type 1|DOID:0111143 - mitochondrial complex V (ATP synthase) deficiency 972921 glrx5 DOID:0060065 - autosomal recessive pyridoxine-refractory sideroblastic anemia 2 972934 acadm DOID:0080153 - medium chain acyl-CoA dehydrogenase deficiency 973091 ndufb3 DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1 973128 ap1s3 DOID:0111281 - psoriasis 15|DOID:4398 - pustulosis of palm and sole 973140 proc DOID:0111904 - autosomal recessive thrombophilia due to protein C deficiency|DOID:0111909 - autosomal dominant thrombophilia due to protein C deficiency|DOID:3756 - protein C deficiency 973160 mmadhc DOID:0050716 - methylmalonic aciduria and homocystinuria type cblD 973174 ufm1 DOID:0060798 - hypomyelinating leukodystrophy 6|DOID:0080296 - hypomyelinating leukodystrophy 14 973184 slc25a15.2 DOID:0050720 - ornithine translocase deficiency 973231 c1qbp DOID:0111495 - combined oxidative phosphorylation deficiency 33 973260 nhp2 DOID:0070015 - autosomal recessive dyskeratosis congenita 1|DOID:0070017 - autosomal recessive dyskeratosis congenita 2|DOID:2729 - dyskeratosis congenita 973271 b4galt7 DOID:0050802 - Ehlers-Danlos syndrome spondylodysplastic type 2 973306 sncb DOID:12217 - Lewy body dementia 973407 snx3 DOID:0111803 - syndromic microphthalmia 8 973432 gnaq DOID:0111529 - familial multiple nevi flammei|DOID:0111563 - Sturge-Weber syndrome|DOID:6039 - uveal melanoma 973477 pex19 DOID:905 - Zellweger syndrome 973540 arhgdia DOID:1184 - nephrotic syndrome 973616 cox5a DOID:3762 - cytochrome-c oxidase deficiency disease 973628 mpi DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080554 - congenital disorder of glycosylation Ib 973637 stt3a DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080572 - congenital disorder of glycosylation Iw 973652 mad2l2 DOID:13636 - Fanconi anemia 973687 tat DOID:0050725 - tyrosinemia type II 973705 tmem138 DOID:0110980 - Joubert syndrome 1|DOID:0110985 - Joubert syndrome 16 973747 pomgnt2 DOID:0050560 - Walker-Warburg syndrome|DOID:0050588 - muscular dystrophy-dystroglycanopathy type B1|DOID:0112382 - muscular dystrophy-dystroglycanopathy type C8 973775 far1 DOID:0081243 - rhizomelic chondrodysplasia punctate type 4 973826 nup155 DOID:0050650 - familial atrial fibrillation 973888 hba2 DOID:0110031 - hemoglobin H disease|DOID:0111363 - Heinz body anemia|DOID:0111631 - familial erythrocytosis 7|DOID:1099 - alpha thalassemia 973906 crbn DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081178 - autosomal recessive intellectual developmental disorder 2 974088 eif2b2 DOID:0060868 - leukoencephalopathy with vanishing white matter|DOID:0070374 - leukoencephalopathy with vanishing white matter 1 974113 b3galt6 DOID:0050802 - Ehlers-Danlos syndrome spondylodysplastic type 2|DOID:0112198 - spondyloepimetaphyseal dysplasia with joint laxity type 1 974303 ethe1 DOID:0060640 - ethylmalonic encephalopathy 974452 tardbp DOID:0060201 - amyotrophic lateral sclerosis type 10|DOID:332 - amyotrophic lateral sclerosis 974513 gatm DOID:0050712 - AGAT deficiency 974587 coa8 DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease 974636 mrps7 DOID:0111497 - combined oxidative phosphorylation deficiency 34 974662 sec23b DOID:0111401 - congenital dyserythropoietic anemia type II|DOID:1338 - congenital dyserythropoietic anemia|DOID:6457 - Cowden syndrome 974693 c6.2 DOID:0060299 - complement component 6 deficiency 974719 cdc6 DOID:0060306 - Meier-Gorlin syndrome 974885 lztfl1 DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110139 - Bardet-Biedl syndrome 17|DOID:1935 - Bardet-Biedl syndrome 974897 trip13 DOID:2154 - nephroblastoma 974920 reep6 DOID:10584 - retinitis pigmentosa 974947 sdhc DOID:0050773 - paraganglioma|DOID:0080533 - Carney-Stratakis syndrome|DOID:6457 - Cowden syndrome|DOID:9253 - gastrointestinal stromal tumor 975114 atp2a1 DOID:0050692 - Brody myopathy 975244 iyd DOID:0112188 - thyroid dyshormonogenesis 4 975255 slc7a7 DOID:0060439 - lysinuric protein intolerance 975266 dhfr DOID:13382 - megaloblastic anemia 975276 ndufs2 DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1|DOID:705 - Leber hereditary optic neuropathy 975312 slc1a3 DOID:0050994 - episodic ataxia type 6 975372 iqcb1 DOID:0050576 - Senior-Loken syndrome|DOID:14791 - Leber congenital amaurosis 975438 eef1a2 DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070068 - autosomal dominant intellectual developmental disorder 38 975698 pcbd1 DOID:0081131 - BH4-deficient hyperphenylalaninemia D|DOID:9351 - diabetes mellitus 975728 dpm3 DOID:0050570 - congenital disorder of glycosylation type I 975749 stil DOID:10907 - microcephaly 975781 serpinc1 DOID:3755 - antithrombin III deficiency 975868 dnajc6 DOID:0060891 - Parkinson's disease 19A|DOID:0060894 - early-onset Parkinson's disease 975920 vac14 DOID:0060589 - Yunis-Varon syndrome 975936 mkks DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110128 - Bardet-Biedl syndrome 6|DOID:0111255 - McKusick-Kaufman syndrome|DOID:1935 - Bardet-Biedl syndrome 975959 ndufaf5 DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1 976034 dgcr8 DOID:12583 - velocardiofacial syndrome 976057 cdc45 DOID:0060306 - Meier-Gorlin syndrome 976154 uqcrc2 DOID:0080114 - mitochondrial complex III deficiency nuclear type 5|DOID:0111139 - mitochondrial complex III deficiency 976197 dao DOID:332 - amyotrophic lateral sclerosis|DOID:5419 - schizophrenia 976228 ddx59 DOID:0060375 - orofaciodigital syndrome V 976257 mlc1 DOID:0080315 - megalencephalic leukoencephalopathy with subcortical cysts|DOID:0080316 - megalencephalic leukoencephalopathy with subcortical cysts 1 976266 alg10 DOID:0110645 - long QT syndrome 2 976278 arl6ip1 DOID:0110812 - hereditary spastic paraplegia 61 976302 rlbp1 DOID:0050683 - Bothnia retinal dystrophy|DOID:0111015 - Newfoundland cone-rod dystrophy|DOID:10584 - retinitis pigmentosa|DOID:11105 - fundus albipunctatus 976314 idh2 DOID:0050575 - D-2-hydroxyglutaric aciduria|DOID:0060221 - Maffucci syndrome|DOID:4624 - Ollier disease 976386 cant1 DOID:0060462 - Desbuquois dysplasia 976426 gpc4 DOID:0060248 - Simpson-Golabi-Behmel syndrome type 1|DOID:2154 - nephroblastoma 976438 atp11c DOID:0111846 - X-linked congenital hemolytic anemia 976452 adam9 DOID:0050572 - cone-rod dystrophy|DOID:0111020 - cone-rod dystrophy 9 976502 samhd1 DOID:0050629 - Aicardi-Goutieres syndrome|DOID:0060386 - Chilblain lupus 976511 gss DOID:0080699 - glutathione synthetase deficiency|DOID:0081034 - glutatione synthetase deficiency with 5-oxoprolinuria|DOID:0112252 - glutathione synthetase deficiency of erythrocytes 976533 pigw DOID:0070432 - hyperphosphatasia with impaired intellectual development syndrome 5 976542 cars2 DOID:0111489 - combined oxidative phosphorylation deficiency 27 976622 dpm1 DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080557 - congenital disorder of glycosylation Ie 976641 calm1 DOID:0060674 - catecholaminergic polymorphic ventricular tachycardia|DOID:0060678 - catecholaminergic polymorphic ventricular tachycardia 4|DOID:0110644 - long QT syndrome 1|DOID:0110655 - long QT syndrome 14 976711 tdo2 DOID:0111703 - familial hypertryptophanemia 976889 rars2 DOID:0060275 - pontocerebellar hypoplasia type 6 976954 cat.2 DOID:2582 - acatalasia 977084 cyp4v2.2 DOID:0050664 - Bietti crystalline corneoretinal dystrophy 977112 fmr1 DOID:0050879 - fragile X-associated tremor/ataxia syndrome|DOID:0080857 - primary ovarian insufficiency 1|DOID:14261 - fragile X syndrome|DOID:5426 - primary ovarian insufficiency 977138 chrna1 DOID:0080110 - contractures, pterygia, and spondylocarpotarsal fusion syndrome|DOID:0110662 - congenital myasthenic syndrome 1B|DOID:0110663 - congenital myasthenic syndrome 1A 977166 cdca7 DOID:0090007 - immunodeficiency-centromeric instability-facial anomalies syndrome|DOID:0090010 - immunodeficiency-centromeric instability-facial anomalies syndrome 3 977251 dlg3 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112041 - non-syndromic X-linked intellectual disability 90 977281 acat1 DOID:14723 - beta-ketothiolase deficiency 977325 rps7 DOID:0111881 - Diamond-Blackfan anemia 8|DOID:1339 - Diamond-Blackfan anemia 977342 pdhb DOID:3649 - pyruvate decarboxylase deficiency 977361 dvl3 DOID:0060766 - autosomal dominant Robinow syndrome 1|DOID:0060767 - autosomal dominant Robinow syndrome 3 977434 pmpca DOID:0080061 - autosomal recessive spinocerebellar ataxia 2 977451 uqcrq DOID:0080111 - mitochondrial complex III deficiency nuclear type 1|DOID:0080113 - mitochondrial complex III deficiency nuclear type 4|DOID:0111139 - mitochondrial complex III deficiency 977473 kif5c DOID:0090133 - complex cortical dysplasia with other brain malformations 2 977517 msh2 DOID:0050465 - Muir-Torre syndrome|DOID:0111253 - neurofibromatosis 1|DOID:0112182 - mismatch repair cancer syndrome|DOID:3070 - high grade glioma|DOID:3883 - Lynch syndrome|DOID:8712 - neurofibromatosis 977574 atp2b3 DOID:0111829 - X-linked spinocerebellar ataxia 1 977582 g6pc3 DOID:0050590 - severe congenital neutropenia|DOID:0112136 - severe congenital neutropenia 4 977610 myl4 DOID:0050650 - familial atrial fibrillation 977669 phb1 DOID:1612 - breast cancer 977731 nans DOID:0080576 - spondyloepimetaphyseal dysplasia, Genevieve-type 977742 cybc1 DOID:3265 - chronic granulomatous disease 977783 ass1 DOID:0070340 - classic citrullinemia|DOID:9273 - citrullinemia 977813 spr DOID:0111168 - sepiapterin reductase deficiency 977852 gnb5 DOID:0081008 - intellectual developmental disorder with cardiac arrhythmia 977902 hps1 DOID:0060539 - Hermansky-Pudlak syndrome 1 977980 xpa DOID:0050427 - xeroderma pigmentosum|DOID:0110843 - xeroderma pigmentosum group A 978018 scn1a DOID:0050561 - Lennox-Gastaut syndrome|DOID:0060170 - generalized epilepsy with febrile seizures plus|DOID:0060171 - obsolete Dravet syndrome|DOID:0060178 - familial hemiplegic migraine|DOID:0080422 - Dravet syndrome|DOID:0111183 - familial hemiplegic migraine 3|DOID:0111294 - generalized epilepsy with febrile seizures plus 2|DOID:0111302 - generalized epilepsy with febrile seizures plus 1|DOID:2481 - infantile epileptic encephalopathy 978041 fancl DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111082 - Fanconi anemia complementation group L|DOID:13636 - Fanconi anemia 978215 dusp6 DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0090090 - hypogonadotropic hypogonadism 19 with or without anosmia|DOID:3614 - Kallmann syndrome 978241 gdap1 DOID:0110167 - Charcot-Marie-Tooth disease axonal type 2K|DOID:0110185 - Charcot-Marie-Tooth disease type 4A|DOID:0110201 - Charcot-Marie-Tooth disease recessive intermediate A 978265 ccdc6 DOID:3969 - thyroid gland papillary carcinoma 978274 dlg5 DOID:0110892 - inflammatory bowel disease 1 978388 atp5f1d DOID:0070463 - mitochondrial complex V (ATP synthase) deficiency nuclear type 5|DOID:0111143 - mitochondrial complex V (ATP synthase) deficiency 978428 gns DOID:0111402 - mucopolysaccharidosis type IIID|DOID:12801 - mucopolysaccharidosis III 978452 cybb DOID:0070195 - X-linked chronic granulomatous disease|DOID:0112000 - immunodeficiency 34|DOID:3265 - chronic granulomatous disease 978490 sumo1 DOID:0050567 - orofacial cleft|DOID:0080403 - orofacial cleft 10 978788 mgat2 DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070253 - congenital disorder of glycosylation type IIa 978802 bco1 DOID:9969 - carotenemia 978807 lim2 DOID:0110263 - cataract 19 multiple types 978819 wfs1 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110241 - cataract 41|DOID:0110584 - autosomal dominant nonsyndromic deafness 6|DOID:0110629 - Wolfram syndrome 1|DOID:10632 - Wolfram syndrome|DOID:9352 - type 2 diabetes mellitus 978826 mboat7 DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081219 - autosomal recessive intellectual developmental disorder 57 978834 spg21 DOID:0060245 - Mast syndrome 978846 mtfmt DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111491 - combined oxidative phosphorylation deficiency 15 978895 twnk DOID:0050556 - infantile onset spinocerebellar ataxia|DOID:0050857 - Perrault syndrome|DOID:0080121 - mitochondrial DNA depletion syndrome 3|DOID:0080126 - mitochondrial DNA depletion syndrome 7|DOID:0111276 - sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|DOID:0111520 - autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 978984 mmaa DOID:0060742 - methylmalonic acidemia cblA type 978998 kif11 DOID:0060349 - microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 979087 bbs1 DOID:0110123 - Bardet-Biedl syndrome 1|DOID:1935 - Bardet-Biedl syndrome 979149 habp2 DOID:0080701 - prothrombin thrombophilia|DOID:0111907 - thrombophilia due to thrombin defect|DOID:2452 - thrombophilia 979183 ikbkg DOID:0081078 - ectodermal dysplasia and immunodeficiency 1|DOID:0112003 - immunodeficiency 33|DOID:12305 - Bloch-Sulzberger syndrome|DOID:14793 - hypohidrotic ectodermal dysplasia 979206 hdc DOID:11119 - Gilles de la Tourette syndrome 979211 lmod1 DOID:0060610 - megacystis-microcolon-intestinal hypoperistalsis syndrome 979242 pofut1 DOID:0060256 - Dowling-Degos disease 979280 myo1a DOID:0110571 - autosomal dominant nonsyndromic deafness 48 979299 lbr DOID:0111588 - Greenberg dysplasia|DOID:9631 - Pelger-Huet anomaly 979354 znf644 DOID:11830 - myopia 979495 ccdc22 DOID:0060565 - Ritscher-Schinzel syndrome|DOID:0060572 - Ritscher-Schinzel syndrome 2 979544 ccno DOID:0050144 - Kartagener syndrome|DOID:0110600 - primary ciliary dyskinesia 29 979607 rpl21 DOID:0110709 - hypotrichosis 12 979685 chrne DOID:0110662 - congenital myasthenic syndrome 1B|DOID:0110663 - congenital myasthenic syndrome 1A|DOID:0110677 - congenital myasthenic syndrome 4B|DOID:0110678 - congenital myasthenic syndrome 4A|DOID:0110679 - congenital myasthenic syndrome 4C 979722 agk DOID:0080132 - Sengers syndrome|DOID:0110245 - cataract 38 979734 bin1 DOID:0111220 - centronuclear myopathy 2|DOID:14717 - centronuclear myopathy 979887 kif22 DOID:0112199 - spondyloepimetaphyseal dysplasia with joint laxity type 2 979987 rad54l DOID:0060060 - non-Hodgkin lymphoma|DOID:1612 - breast cancer 980058 hspd1 DOID:0060789 - hypomyelinating leukodystrophy 4|DOID:0110766 - hereditary spastic paraplegia 13 980089 ermard DOID:0050454 - periventricular nodular heterotopia 980106 grm1 DOID:0080062 - autosomal recessive spinocerebellar ataxia 13 980143 ndufaf6 DOID:3652 - Leigh disease 980160 cthrc1 DOID:9206 - Barrett's esophagus 980215 toe1 DOID:0060276 - pontocerebellar hypoplasia type 7 980230 c8a DOID:0060301 - type I complement component 8 deficiency 980341 cngb1 DOID:0110402 - retinitis pigmentosa 45|DOID:10584 - retinitis pigmentosa 980390 hydin DOID:0050144 - Kartagener syndrome|DOID:0110617 - primary ciliary dyskinesia 5 980395 lcat DOID:1391 - Norum disease 980452 bfsp1 DOID:0110264 - cataract 33 980509 gbe1 DOID:2750 - glycogen storage disease IV 980520 pros1 DOID:0111900 - autosomal dominant thrombophilia due to protein S deficiency|DOID:0111905 - autosomal recessive thrombophilia due to protein S deficiency 980526 robo2 DOID:9620 - vesicoureteral reflux 980531 abcb7 DOID:0050554 - X-linked sideroblastic anemia with ataxia 980538 thoc2 DOID:0112056 - X-linked intellectual disability-short stature-overweight syndrome 980549 arhgef9 DOID:0050709 - early infantile epileptic encephalopathy|DOID:2481 - infantile epileptic encephalopathy 980567 atrx DOID:0110030 - alpha thalassemia-X-linked intellectual disability syndrome|DOID:0112125 - alpha-thalassemia myelodysplasia syndrome 980578 slc16a2 DOID:0050631 - Allan-Herndon-Dudley syndrome 980610 dhtkd1 DOID:0110170 - Charcot-Marie-Tooth disease axonal type 2Q|DOID:0111453 - 2-aminoadipic 2-oxoadipic aciduria 980647 cep41 DOID:0050777 - Joubert syndrome|DOID:0110980 - Joubert syndrome 1|DOID:0110984 - Joubert syndrome 15 980660 lep DOID:0111334 - congenital leptin deficiency 980706 depdc5 DOID:0060681 - autosomal dominant nocturnal frontal lobe epilepsy|DOID:0060748 - familial temporal lobe epilepsy 1|DOID:0081421 - familial focal epilepsy with variable foci 1 980794 ess2 DOID:12583 - velocardiofacial syndrome 980811 bcr DOID:8552 - chronic myeloid leukemia|DOID:9952 - acute lymphoblastic leukemia 980870 slitrk6 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0111628 - high myopia-sensorineural deafness syndrome 980896 scnn1g DOID:0050477 - Liddle syndrome|DOID:0060854 - autosomal recessive pseudohypoaldosteronism type 1|DOID:9563 - bronchiectasis 981051 fat4 DOID:0060238 - Van Maldergem syndrome|DOID:0060366 - Hennekam syndrome 981143 slc6a4l DOID:2030 - anxiety disorder 981163 nus1 DOID:0080227 - autosomal dominant intellectual developmental disorder 55 981187 pigr DOID:2986 - IgA glomerulonephritis 981207 pln DOID:0110324 - hypertrophic cardiomyopathy 18|DOID:0110439 - dilated cardiomyopathy 1P 981210 syt2 DOID:0110659 - congenital myasthenic syndrome 7 981256 ptprc DOID:0060014 - CD45 deficiency|DOID:0090014 - severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive 981264 cfh DOID:0060745 - Doyne honeycomb retinal dystrophy|DOID:0060746 - basal laminar drusen|DOID:0110017 - age related macular degeneration 4 981310 rps15a DOID:1339 - Diamond-Blackfan anemia 981362 fanci DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111091 - Fanconi anemia complementation group I|DOID:13636 - Fanconi anemia 981380 vps33b DOID:0050763 - ARC syndrome 981401 lmf1 DOID:0111422 - familial lipase maturation factor 1 deficiency 981497 bpgm DOID:0111630 - familial erythrocytosis 8 981611 epas1 DOID:0080339 - familial erythrocytosis 4 981624 abcg8 DOID:0060262 - gallbladder disease|DOID:0090019 - sitosterolemia 981634 prepl DOID:0060858 - hypotonia-cystinuria syndrome 981658 dync2li1 DOID:0050592 - asphyxiating thoracic dystrophy|DOID:12714 - Ellis-Van Creveld syndrome 981680 tbc1d24 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0080449 - developmental and epileptic encephalopathy 16|DOID:0110532 - autosomal recessive nonsyndromic deafness 86|DOID:0110586 - autosomal dominant nonsyndromic deafness 65|DOID:0111627 - DOORS syndrome 981705 tsc2 DOID:0080324 - tuberous sclerosis 1|DOID:0080325 - tuberous sclerosis 2|DOID:13515 - tuberous sclerosis|DOID:3319 - lymphangioleiomyomatosis 981713 tnrc6a DOID:0111696 - familial adult myoclonic epilepsy 6 981722 slx4 DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111092 - Fanconi anemia complementation group P|DOID:13636 - Fanconi anemia 981845 lmbr1 DOID:0050603 - acheiropody|DOID:0111350 - Laurin-Sandrow syndrome|DOID:0111564 - hypoplastic or aplastic tibia with polydactyly|DOID:0111818 - syndactyly type 4|DOID:11193 - syndactyly|DOID:1148 - polydactyly 981974 snrnp200 DOID:0110366 - retinitis pigmentosa 33|DOID:10584 - retinitis pigmentosa 981991 gck DOID:0050524 - maturity-onset diabetes of the young|DOID:0060639 - permanent neonatal diabetes mellitus|DOID:0070216 - familial hyperinsulinemic hypoglycemia 3|DOID:0111100 - maturity-onset diabetes of the young type 2|DOID:13317 - hyperinsulinemic hypoglycemia|DOID:9352 - type 2 diabetes mellitus 982086 gpc3 DOID:0060248 - Simpson-Golabi-Behmel syndrome type 1|DOID:2154 - nephroblastoma 982103 gpr101 DOID:0112007 - growth hormone secreting pituitary adenoma 2 982143 atxn1 DOID:0050954 - spinocerebellar ataxia type 1 982202 btd DOID:856 - biotinidase deficiency 982273 rpgr DOID:0050144 - Kartagener syndrome|DOID:0050572 - cone-rod dystrophy|DOID:0110414 - retinitis pigmentosa 3|DOID:0111008 - X-linked cone-rod dystrophy 1|DOID:0112124 - X-linked retinitis pigmentosa and sinorespiratory infections|DOID:10584 - retinitis pigmentosa 982299 otc DOID:9271 - ornithine carbamoyltransferase deficiency 982323 ano6 DOID:0111052 - Scott syndrome 982337 mcoln1 DOID:0080490 - mucolipidosis type IV 982365 coch DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110593 - autosomal dominant nonsyndromic deafness 9|DOID:0111644 - autosomal recessive nonsyndromic deafness 110 982456 ift52 DOID:0050577 - cranioectodermal dysplasia 982533 dlat DOID:3649 - pyruvate decarboxylase deficiency 982560 blm DOID:2717 - Bloom syndrome 982585 cln6 DOID:0110729 - neuronal ceroid lipofuscinosis 6A|DOID:0110730 - neuronal ceroid lipofuscinosis 6B 982604 bola3 DOID:0080134 - multiple mitochondrial dysfunctions syndrome 2 982644 ampd2 DOID:0060278 - pontocerebellar hypoplasia type 9|DOID:0110814 - hereditary spastic paraplegia 63 982742 itga2 DOID:0111045 - platelet-type bleeding disorder 9 982766 scn4a DOID:0110682 - congenital myasthenic syndrome 16|DOID:0111538 - paramyotonia congenita of Von Eulenburg|DOID:14451 - hyperkalemic periodic paralysis|DOID:14452 - hypokalemic periodic paralysis 982842 reln DOID:0060748 - familial temporal lobe epilepsy 1|DOID:0060751 - familial temporal lobe epilepsy 7|DOID:0060902 - Norman-Roberts syndrome 982850 dld DOID:3652 - Leigh disease|DOID:9269 - maple syrup urine disease 982867 retreg1 DOID:0070150 - hereditary sensory and autonomic neuropathy type 2B|DOID:0070161 - hereditary sensory and autonomic neuropathy type 2 982872 slc6a3 DOID:0070489 - classic dopamine transporter deficiency syndrome|DOID:1094 - attention deficit hyperactivity disorder 982902 pdss1 DOID:0050730 - coenzyme Q10 deficiency disease|DOID:0070238 - primary coenzyme Q10 deficiency 1|DOID:0070239 - primary coenzyme Q10 deficiency 2 982926 odad2 DOID:0050144 - Kartagener syndrome|DOID:0110609 - primary ciliary dyskinesia 23 982936 kcnb1 DOID:0080461 - developmental and epileptic encephalopathy 26 983047 zc3h14 DOID:0060308 - autosomal recessive intellectual developmental disorder 983055 fbln5 DOID:0070130 - autosomal dominant cutis laxa 1|DOID:0070135 - autosomal recessive cutis laxa type IA|DOID:0070142 - autosomal dominant cutis laxa|DOID:0070144 - autosomal recessive cutis laxa type I|DOID:3144 - cutis laxa 983071 gfm1 DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111474 - combined oxidative phosphorylation deficiency 1 983103 kcnh2 DOID:0050793 - short QT syndrome|DOID:0110644 - long QT syndrome 1|DOID:0110645 - long QT syndrome 2 983106 ahr DOID:10584 - retinitis pigmentosa 983161 nek1 DOID:0081378 - amyotrophic lateral sclerosis type 24|DOID:0110092 - short-rib thoracic dysplasia 6 with or without polydactyly 983213 kcnj13 DOID:0110118 - Leber congenital amaurosis 16|DOID:0111570 - snowflake vitreoretinal degeneration|DOID:14791 - Leber congenital amaurosis 983223 slc19a3 DOID:0050659 - biotin-responsive basal ganglia disease 983244 gsdme DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110575 - autosomal dominant nonsyndromic deafness 5 983262 gpnmb DOID:0080932 - primary localized cutaneous amyloidosis 3 983284 ddc DOID:0090123 - aromatic L-amino acid decarboxylase deficiency 983313 pcsk1 DOID:0111698 - proprotein convertase 1/3 deficiency 983328 cast DOID:0070526 - PLACK syndrome 983363 guf1 DOID:0050562 - West syndrome 983417 gucy1a1 DOID:13099 - Moyamoya disease 983447 mab21l2 DOID:0111802 - syndromic microphthalmia 14 983490 lamb3 DOID:0060737 - junctional epidermolysis bullosa Herlitz type|DOID:0060738 - junctional epidermolysis bullosa non-Herlitz type|DOID:0110054 - amelogenesis imperfecta type 1A 983509 pitpnm3 DOID:0050572 - cone-rod dystrophy|DOID:0111010 - cone-rod dystrophy 5 983512 slc13a5 DOID:0080453 - developmental and epileptic encephalopathy 25 983521 hip1 DOID:10283 - prostate cancer 983542 rhag DOID:0050641 - Rh deficiency syndrome|DOID:0111562 - overhydrated hereditary stomatocytosis 983585 matr3 DOID:0060212 - amyotrophic lateral sclerosis type 21|DOID:332 - amyotrophic lateral sclerosis 983639 tk2 DOID:0080120 - mitochondrial DNA depletion syndrome 2|DOID:0080121 - mitochondrial DNA depletion syndrome 3 983661 cdh15 DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070033 - autosomal dominant intellectual developmental disorder 3 983713 kif5a DOID:0081379 - amyotrophic lateral sclerosis type 25|DOID:0110763 - hereditary spastic paraplegia 10 983721 syne2.2 DOID:0070250 - autosomal dominant Emery-Dreifuss muscular dystrophy 5|DOID:11726 - Emery-Dreifuss muscular dystrophy 983791 dnal1 DOID:0050144 - Kartagener syndrome|DOID:0110613 - primary ciliary dyskinesia 16 983813 atf6 DOID:0050572 - cone-rod dystrophy|DOID:0110009 - achromatopsia 7|DOID:13911 - achromatopsia 983820 tsen15 DOID:0112329 - pontocerebellar hypoplasia type 2F 983823 sell DOID:2986 - IgA glomerulonephritis 983826 ddr2 DOID:0112196 - spondylometaepiphyseal dysplasia, short limb-hand type 983840 atf4 DOID:10629 - microphthalmia 983867 brdt DOID:0070163 - spermatogenic failure 21 983901 abcd3 DOID:0111066 - congenital bile acid synthesis defect 5 983911 rpl5 DOID:0111879 - Diamond-Blackfan anemia 6|DOID:1339 - Diamond-Blackfan anemia 983981 impg2 DOID:0110371 - retinitis pigmentosa 56|DOID:10584 - retinitis pigmentosa 984010 taf15 DOID:4549 - extraskeletal myxoid chondrosarcoma|DOID:6496 - obsolete extraskeletal myxoid chondrosarcoma 984031 ca4.1 DOID:0110404 - retinitis pigmentosa 17|DOID:10584 - retinitis pigmentosa 984046 cltc DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0080226 - autosomal dominant intellectual developmental disorder 56 984100 edaradd DOID:0050591 - tooth agenesis|DOID:0111653 - ectodermal dysplasia 11A|DOID:0111654 - ectodermal dysplasia 11B|DOID:0111663 - ectodermal dysplasia 10A|DOID:0111665 - ectodermal dysplasia 10B|DOID:14793 - hypohidrotic ectodermal dysplasia 984173 chat DOID:0110671 - congenital myasthenic syndrome 6 984187 snx14 DOID:0080066 - autosomal recessive spinocerebellar ataxia 20 984210 nt5e DOID:0111582 - hereditary arterial and articular multiple calcification syndrome 984238 gmppa DOID:0050602 - triple-A syndrome|DOID:0112321 - alacrima, achalasia, and impaired intellectual development syndrome 984297 cyp27a1 DOID:4810 - cerebrotendinous xanthomatosis 984390 prdm8 DOID:0111445 - progressive myoclonus epilepsy 10 984403 hgsnat DOID:0110389 - retinitis pigmentosa 73|DOID:0111393 - mucopolysaccharidosis type IIIC|DOID:10584 - retinitis pigmentosa|DOID:12801 - mucopolysaccharidosis III 984408 pomk DOID:0050560 - Walker-Warburg syndrome|DOID:0050588 - muscular dystrophy-dystroglycanopathy type B1|DOID:0112381 - muscular dystrophy-dystroglycanopathy type C12 984424 kl DOID:0111063 - hyperphosphatemic familial tumoral calcinosis 984452 masp1 DOID:0060225 - 3MC syndrome|DOID:0060575 - 3MC syndrome 1 984491 ccdc50 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110569 - autosomal dominant nonsyndromic deafness 44 984503 slc35c1 DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070255 - congenital disorder of glycosylation type IIc|DOID:6612 - leukocyte adhesion deficiency 984582 rb1cc1 DOID:1612 - breast cancer 984605 dsg2 DOID:0110081 - arrhythmogenic right ventricular dysplasia 10|DOID:0110458 - dilated cardiomyopathy 1BB 984630 dsg1 DOID:0081108 - keratosis palmoplantaris striata 1 984633 lama3 DOID:0060737 - junctional epidermolysis bullosa Herlitz type|DOID:0060738 - junctional epidermolysis bullosa non-Herlitz type 984653 npc1 DOID:0070113 - Niemann-Pick disease type C1 984684 faslg DOID:1324 - lung cancer|DOID:6688 - autoimmune lymphoproliferative syndrome|DOID:9074 - systemic lupus erythematosus 984726 glis3 DOID:0060638 - neonatal diabetes mellitus with congenital hypothyroidism 984729 fxn DOID:0111218 - Friedreich ataxia 1|DOID:12705 - Friedreich ataxia 984744 zswim6 DOID:0060342 - acromelic frontonasal dysostosis 984749 htr1a DOID:9620 - vesicoureteral reflux 984800 fancd2 DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111083 - Fanconi anemia complementation group D2|DOID:13636 - Fanconi anemia 984836 prss12 DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081177 - autosomal recessive intellectual developmental disorder 1 984842 ank2 DOID:0110644 - long QT syndrome 1|DOID:0111700 - ankyrin-B-related cardiac arrhythmia 984958 nf2 DOID:0070480 - schwannomatosis 1|DOID:0111252 - vestibular schwannomatosis|DOID:3204 - schwannomatosis|DOID:3565 - meningioma|DOID:4586 - familial meningioma|DOID:8712 - neurofibromatosis 984989 angptl6 DOID:0060228 - intracranial berry aneurysm 984992 trim37 DOID:0050436 - mulibrey nanism 985022 cpamd8 DOID:0080613 - anterior segment dysgenesis 8 985088 kdsr DOID:0050467 - erythrokeratodermia variabilis 985137 esrp1 DOID:0111639 - autosomal recessive nonsyndromic deafness 109 985148 tmem67 DOID:0050777 - Joubert syndrome|DOID:0050778 - Meckel syndrome|DOID:0070117 - Meckel syndrome 3|DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110136 - Bardet-Biedl syndrome 14|DOID:0111001 - Joubert syndrome 6|DOID:0111118 - nephronophthisis 11|DOID:0111589 - COACH syndrome 985171 matn3 DOID:0070299 - multiple epiphyseal dysplasia 5|DOID:12721 - multiple epiphyseal dysplasia 985174 wdr35 DOID:0050577 - cranioectodermal dysplasia|DOID:0110090 - short-rib thoracic dysplasia 7 with or without polydactyly 985201 suox DOID:0111270 - isolated sulfite oxidase deficiency 985231 itga7 DOID:0110639 - congenital muscular dystrophy due to integrin alpha-7 deficiency 985263 stat2 DOID:0111975 - immunodeficiency 44 985327 znf592 DOID:0060364 - Galloway-Mowat syndrome 1 985355 cib2 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110505 - autosomal recessive nonsyndromic deafness 48|DOID:0110826 - Usher syndrome type 1|DOID:0110836 - Usher syndrome type 1J 985414 pex1 DOID:0050444 - infantile Refsum disease|DOID:0080622 - peroxisome biogenesis disorder 2B|DOID:0080623 - Heimler syndrome 1|DOID:0081240 - peroxisome biogenesis disorder 1B|DOID:0081241 - peroxisome biogenesis disorder 3B|DOID:10582 - Refsum disease|DOID:10588 - adrenoleukodystrophy|DOID:905 - Zellweger syndrome 985434 map3k20 DOID:0111221 - centronuclear myopathy 6 with fiber-type disproportion 985510 srd5a3 DOID:0050570 - congenital disorder of glycosylation type I|DOID:0050807 - Kahrizi syndrome|DOID:0080568 - congenital disorder of glycosylation Iq 985593 prph2 DOID:0050572 - cone-rod dystrophy|DOID:0050661 - vitelliform macular dystrophy|DOID:0060863 - patterned macular dystrophy|DOID:0060866 - patterned macular dystrophy 1|DOID:0110383 - retinitis pigmentosa 7|DOID:10584 - retinitis pigmentosa|DOID:11105 - fundus albipunctatus|DOID:9822 - partial central choroid dystrophy 985614 syt14 DOID:0080063 - autosomal recessive spinocerebellar ataxia 11 985697 manba DOID:3633 - beta-mannosidosis 985727 tacr3 DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090071 - hypogonadotropic hypogonadism 11 with or without anosmia|DOID:3614 - Kallmann syndrome 985745 nfkb1 DOID:0081154 - common variable immunodeficiency 12|DOID:12177 - common variable immunodeficiency 985829 mccc2 DOID:0050710 - 3-methylcrotonyl-CoA carboxylase deficiency 985840 cilk1 DOID:0060641 - endocrine-cerebro-osteodysplasia syndrome|DOID:4890 - juvenile myoclonic epilepsy 985870 med12 DOID:0060289 - Ohdo syndrome|DOID:0080985 - syndromic X-linked intellectual disorder Lujan-Fryns-type|DOID:14711 - FG syndrome 985945 irf8 DOID:0111985 - immunodeficiency 32B|DOID:0111986 - immunodeficiency 32A 985987 fezf1 DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0090081 - hypogonadotropic hypogonadism 22 with or without anosmia|DOID:3614 - Kallmann syndrome 986036 fancc DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111087 - Fanconi anemia complementation group C|DOID:13636 - Fanconi anemia 986067 hsd17b3 DOID:0112248 - 17-beta hydroxysteroid dehydrogenase 3 deficiency 986140 nectin1 DOID:0060773 - cleft lip-palate-ectodermal dysplasia syndrome|DOID:1909 - melanoma 986202 ky DOID:0080098 - myofibrillar myopathy 7 986220 htr2a DOID:0050741 - alcohol dependence|DOID:1595 - melancholic depression|DOID:5419 - schizophrenia 986225 itm2b DOID:0070029 - ITM2B-related cerebral amyloid angiopathy 1|DOID:0070030 - ITM2B-related cerebral amyloid angiopathy 2 986277 alg3 DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080556 - congenital disorder of glycosylation Id 986285 eif2b5 DOID:0060868 - leukoencephalopathy with vanishing white matter|DOID:0070374 - leukoencephalopathy with vanishing white matter 1 986302 klf6 DOID:0080764 - hereditary diffuse gastric cancer|DOID:10283 - prostate cancer|DOID:10534 - stomach cancer 986362 eif2s3 DOID:0060801 - MEHMO syndrome 986413 card9 DOID:2058 - chronic mucocutaneous candidiasis 986529 antxr1 DOID:0112249 - GAPO syndrome 986625 rasgrp2 DOID:0111051 - platelet-type bleeding disorder 18 986637 msh6 DOID:0050465 - Muir-Torre syndrome|DOID:0112182 - mismatch repair cancer syndrome|DOID:1380 - endometrial cancer|DOID:3883 - Lynch syndrome 986646 fshr DOID:14450 - 46 XX gonadal dysgenesis|DOID:5425 - ovarian hyperstimulation syndrome 986650 lhcgr DOID:0111545 - familial male-limited precocious puberty|DOID:0112260 - Leydig cell hypoplasia type I 986666 epcam DOID:0060776 - congenital diarrhea 5 with tufting enteropathy|DOID:0070270 - hereditary nonpolyposis colorectal cancer type 8|DOID:3883 - Lynch syndrome 986683 ccdc40 DOID:0050144 - Kartagener syndrome|DOID:0110623 - primary ciliary dyskinesia 15 986712 mc3r DOID:9970 - obesity 986759 pcdh15 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110481 - autosomal recessive nonsyndromic deafness 23|DOID:0110826 - Usher syndrome type 1|DOID:0110831 - Usher syndrome type 1D|DOID:0110832 - Usher syndrome type 1F 986762 papss2 DOID:0050812 - spondyloepimetaphyseal dysplasia, Pakistani type 986795 adamtsl4 DOID:0111148 - isolated ectopia lentis|DOID:0111149 - autosomal recessive isolated ectopia lentis 2|DOID:0111648 - ectopia lentis with ectopia of pupil 986804 idua DOID:0060222 - Scheie syndrome|DOID:0111389 - mucopolysaccharidosis Ih/s|DOID:0111390 - mucopolysaccharidosis Ih|DOID:12802 - mucopolysaccharidosis I 986814 ercc4 DOID:0050427 - xeroderma pigmentosum|DOID:0060590 - XFE progeroid syndrome|DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0110848 - xeroderma pigmentosum group F|DOID:0111093 - Fanconi anemia complementation group Q|DOID:13636 - Fanconi anemia 986839 slc6a8 DOID:0050800 - cerebral creatine deficiency syndrome 1 986844 dnm1 DOID:0050561 - Lennox-Gastaut syndrome|DOID:0080437 - developmental and epileptic encephalopathy 31A 986853 sptan1 DOID:0050562 - West syndrome|DOID:0050709 - early infantile epileptic encephalopathy|DOID:0080438 - developmental and epileptic encephalopathy 5|DOID:2481 - infantile epileptic encephalopathy 986871 set DOID:0060307 - autosomal dominant intellectual developmental disorder 986901 hsd17b10 DOID:0060810 - syndromic X-linked intellectual disability type 10|DOID:0112037 - chromosome Xp11.22 duplication syndrome 986929 tgm5 DOID:0060283 - peeling skin syndrome|DOID:0070520 - peeling skin syndrome 1|DOID:0070521 - peeling skin syndrome 2 986934 slc4a1 DOID:0110919 - hereditary spherocytosis type 4|DOID:12971 - hereditary spherocytosis|DOID:14219 - renal tubular acidosis 986941 g6pc3.2 DOID:0050590 - severe congenital neutropenia|DOID:0112136 - severe congenital neutropenia 4 986947 mapt DOID:0060892 - late onset Parkinson's disease|DOID:11870 - Pick's disease|DOID:14330 - Parkinson's disease|DOID:678 - progressive supranuclear palsy|DOID:9255 - frontotemporal dementia 986961 taco1 DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease 986968 pyy DOID:9970 - obesity 987006 nags DOID:0112258 - N-acetylglutamate synthase deficiency 987030 cep57 DOID:0080142 - mosaic variegated aneuploidy syndrome 2 987054 tmc1 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110520 - autosomal recessive nonsyndromic deafness 7|DOID:0110563 - autosomal dominant nonsyndromic deafness 36 987087 dock8 DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070032 - autosomal dominant intellectual developmental disorder 2|DOID:0080594 - hyper IgE recurrent infection syndrome 2 987117 hyal1 DOID:0050809 - mucopolysaccharidosis IX 987120 glyctk DOID:0111626 - D-glyceric aciduria 987207 ap3b1 DOID:0060540 - Hermansky-Pudlak syndrome 2 987315 rcbtb1 DOID:0050741 - alcohol dependence 987397 f5 DOID:0111902 - thrombophilia due to activated protein C resistance|DOID:11512 - Budd-Chiari syndrome|DOID:2216 - factor V deficiency|DOID:3526 - cerebral infarction|DOID:6713 - cerebrovascular disease 987402 nme7 DOID:758 - situs inversus 987441 chst8 DOID:0070522 - peeling skin syndrome 3 987475 asl DOID:14755 - argininosuccinic aciduria 987495 auts2 DOID:0070056 - autosomal dominant intellectual developmental disorder 26 987502 kctd7 DOID:0111446 - progressive myoclonus epilepsy 3|DOID:891 - progressive myoclonus epilepsy 987590 meiob DOID:0070177 - spermatogenic failure 22 987625 rai1 DOID:0060768 - Smith-Magenis syndrome 987669 psmc3ip DOID:14450 - 46 XX gonadal dysgenesis 987794 ascc1 DOID:9206 - Barrett's esophagus 987809 cd2ap DOID:0112245 - focal segmental glomerulosclerosis 3 987873 rab3gap2 DOID:0060237 - Warburg micro syndrome|DOID:0110717 - Warburg micro syndrome 2|DOID:0111586 - Martsolf syndrome 987910 adgrg2 DOID:0111863 - X-linked congenital bilateral absence of vas deferens 987973 jph3 DOID:0090104 - Huntington's disease-like 2 987981 tsc1 DOID:0080324 - tuberous sclerosis 1|DOID:13515 - tuberous sclerosis|DOID:3319 - lymphangioleiomyomatosis 988074 alms1 DOID:0050473 - Alstrom syndrome 988136 myt1l DOID:0070069 - autosomal dominant intellectual developmental disorder 39 988181 enpp1 DOID:0050644 - arterial calcification of infancy|DOID:0050949 - autosomal recessive hypophosphatemic rickets|DOID:0060887 - ossification of the posterior longitudinal ligament of spine|DOID:2738 - pseudoxanthoma elasticum|DOID:9352 - type 2 diabetes mellitus|DOID:9970 - obesity 988213 gtpbp3 DOID:0111500 - combined oxidative phosphorylation deficiency 23 988220 ap4e1 DOID:0060243 - stuttering|DOID:0110803 - hereditary spastic paraplegia 51 988247 pank2 DOID:3981 - pantothenate kinase-associated neurodegeneration 988271 lipe DOID:0070206 - familial partial lipodystrophy type 6 988320 irf4 DOID:9538 - multiple myeloma 988438 myo5b DOID:0060775 - microvillus inclusion disease 988465 cfap53 DOID:0050545 - visceral heterotaxy|DOID:758 - situs inversus 988512 itgb2 DOID:0110910 - leukocyte adhesion deficiency 1 988562 ehhadh DOID:0090031 - D-bifunctional protein deficiency|DOID:1062 - Fanconi syndrome 988577 tyr DOID:0050632 - oculocutaneous albinism|DOID:0070094 - oculocutaneous albinism type IA|DOID:0070095 - oculocutaneous albinism type IB|DOID:0090100 - ocular albinism with sensorineural deafness 988585 h6pd DOID:0090139 - cortisone reductase deficiency|DOID:0090141 - cortisone reductase deficiency 1 988608 cep152 DOID:0050569 - Seckel syndrome|DOID:0070012 - Seckel syndrome 5 988654 d2hgdh DOID:0050575 - D-2-hydroxyglutaric aciduria 988754 pde6a DOID:0110379 - retinitis pigmentosa 43|DOID:10584 - retinitis pigmentosa 988818 abcb11.2 DOID:0070222 - progressive familial intrahepatic cholestasis 2|DOID:0070232 - benign recurrent intrahepatic cholestasis 2|DOID:1852 - intrahepatic cholestasis 988823 nsd2 DOID:0050460 - Wolf-Hirschhorn syndrome 988836 nelfa DOID:0050460 - Wolf-Hirschhorn syndrome 988874 nt5c2 DOID:0110797 - hereditary spastic paraplegia 45 988964 slc17a8 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110555 - autosomal dominant nonsyndromic deafness 25 988986 mypn DOID:0110445 - dilated cardiomyopathy 1KK|DOID:0110933 - nemaline myopathy 11|DOID:397 - restrictive cardiomyopathy 989021 atoh7 DOID:0060282 - persistent hyperplastic primary vitreous|DOID:0060648 - anterior segment dysgenesis 989046 ccdc39 DOID:0050144 - Kartagener syndrome|DOID:0110598 - primary ciliary dyskinesia 14 989057 opa1 DOID:0111340 - dominant optic atrophy plus syndrome|DOID:0111441 - optic atrophy 1|DOID:0111580 - Behr syndrome|DOID:5723 - optic atrophy 989093 smoc1 DOID:0060861 - microphthalmia with limb anomalies 989205 nsd1 DOID:0112103 - Sotos syndrome 1|DOID:14731 - Weaver syndrome|DOID:14748 - Sotos syndrome|DOID:5572 - Beckwith-Wiedemann syndrome|DOID:9119 - acute myeloid leukemia 989254 oca2 DOID:0050632 - oculocutaneous albinism|DOID:0070096 - oculocutaneous albinism type II 989275 myh3 DOID:0050646 - distal arthrogryposis|DOID:0081321 - contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A|DOID:0090116 - spondylocarpotarsal synostosis syndrome|DOID:0111600 - distal arthrogryposis type 2B1|DOID:0111604 - Freeman-Sheldon syndrome|DOID:0111605 - distal arthrogryposis type 2A 989291 cfap52 DOID:758 - situs inversus 989334 ntn1 DOID:0111153 - congenital mirror movement disorder 989358 p3h1 DOID:0110336 - osteogenesis imperfecta type 8|DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110341 - osteogenesis imperfecta type 2 989399 tmem70 DOID:0050768 - mitochondrial complex V (ATP synthase) deficiency nuclear type 1|DOID:0060331 - mitochondrial complex V (ATP synthase) deficiency nuclear type 2 989417 itgbl1 DOID:8398 - osteoarthritis 989432 ank3 DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081202 - autosomal recessive intellectual developmental disorder 37 989453 pikfyve DOID:0060448 - Fleck corneal dystrophy 989510 kcnq5 DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0080237 - autosomal dominant intellectual developmental disorder 46 989520 sec63 DOID:0050770 - polycystic liver disease 989540 ostm1 DOID:0110939 - autosomal recessive osteopetrosis 5|DOID:0110942 - autosomal recessive osteopetrosis 1 989573 plce1 DOID:1184 - nephrotic syndrome 989583 hpse2 DOID:0050816 - urofacial syndrome 989602 cox15 DOID:0050713 - COX deficiency, infantile mitochondrial myopathy|DOID:0080358 - mitochondrial complex IV deficiency nuclear type 6|DOID:3652 - Leigh disease 989612 vps13a DOID:0050766 - choreaacanthocytosis 989641 gphn DOID:0060695 - hyperekplexia|DOID:0060696 - hyperekplexia 1|DOID:0111164 - molybdenum cofactor deficiency type A|DOID:0111166 - molybdenum cofactor deficiency type C 989658 rsph3 DOID:0050144 - Kartagener syndrome|DOID:0110603 - primary ciliary dyskinesia 32 989668 whrn DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110490 - autosomal recessive nonsyndromic deafness 31|DOID:0110827 - Usher syndrome type 2|DOID:0110840 - Usher syndrome type 2D 989700 crb2 DOID:0111134 - focal segmental glomerulosclerosis 9|DOID:0111625 - ventriculomegaly - cystic kidney disease 989761 copa DOID:0081242 - autoimmune interstitial lung, joint, and kidney disease 989770 dcaf8 DOID:0090069 - giant axonal neuropathy 2 989848 eif2ak3 DOID:0090060 - Wolcott-Rallison syndrome 989886 card14 DOID:8893 - psoriasis|DOID:9212 - pityriasis rubra pilaris 989943 ecel1 DOID:0050646 - distal arthrogryposis|DOID:0111594 - distal arthrogryposis type 5D 989974 chrnd DOID:0080110 - contractures, pterygia, and spondylocarpotarsal fusion syndrome|DOID:0110662 - congenital myasthenic syndrome 1B|DOID:0110663 - congenital myasthenic syndrome 1A|DOID:0110665 - congenital myasthenic syndrome 3B 990004 rubcn DOID:0080057 - autosomal recessive spinocerebellar ataxia 15 990009 chrng DOID:0080110 - contractures, pterygia, and spondylocarpotarsal fusion syndrome 990020 armc9 DOID:0050777 - Joubert syndrome|DOID:0080275 - Joubert syndrome 30 990030 kynu DOID:0112257 - hydroxykynureninuria 990047 lamc2 DOID:0060737 - junctional epidermolysis bullosa Herlitz type|DOID:0060738 - junctional epidermolysis bullosa non-Herlitz type 990074 kiss1r DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090074 - hypogonadotropic hypogonadism 8 with or without anosmia|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0112310 - central precocious puberty 1|DOID:3614 - Kallmann syndrome 990088 gpx4 DOID:0112298 - spondylometaphyseal dysplasia Sedaghatian type 990129 abhd12 DOID:0080181 - PHARC syndrome 990195 capn1 DOID:0110821 - hereditary spastic paraplegia 76 990214 drd4 DOID:0060892 - late onset Parkinson's disease|DOID:1094 - attention deficit hyperactivity disorder|DOID:14330 - Parkinson's disease 990236 eps8l2 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0080261 - autosomal recessive nonsyndromic deafness 106 990307 dhx38 DOID:10584 - retinitis pigmentosa 990325 dcxr DOID:0111258 - pentosuria 990377 nek8 DOID:0060259 - renal-hepatic-pancreatic dysplasia|DOID:0111120 - nephronophthisis 9|DOID:0111124 - nephronophthisis 16 990391 best1 DOID:0050661 - vitelliform macular dystrophy|DOID:0050662 - bestrophinopathy|DOID:0110396 - retinitis pigmentosa 50|DOID:0111569 - autosomal dominant vitreoretinochoroidopathy|DOID:10584 - retinitis pigmentosa 990416 ifitm5 DOID:0110344 - osteogenesis imperfecta type 5 990419 sdhaf2 DOID:0050773 - paraganglioma 990499 p2rx7 DOID:1040 - chronic lymphocytic leukemia 990536 ift81 DOID:0080295 - short-rib thoracic dysplasia 19 with or without polydactyly 990616 dock2 DOID:0111951 - immunodeficiency 40 990684 dgke DOID:0080388 - nephrotic syndrome type 7|DOID:1184 - nephrotic syndrome 990804 spart DOID:0050886 - Troyer syndrome 990845 ppp2r1a DOID:0070066 - autosomal dominant intellectual developmental disorder 36 990866 arhgef18 DOID:10584 - retinitis pigmentosa 990891 rdx DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110482 - autosomal recessive nonsyndromic deafness 24 990957 dlec1 DOID:1324 - lung cancer|DOID:5041 - esophageal cancer 990994 rapsn DOID:0110675 - congenital myasthenic syndrome 11|DOID:0110679 - congenital myasthenic syndrome 4C|DOID:0111377 - fetal akinesia deformation sequence syndrome 1 991084 pah DOID:9281 - phenylketonuria 991122 cacna2d4 DOID:0050572 - cone-rod dystrophy|DOID:0050795 - cone dystrophy|DOID:0081023 - retinal cone dystrophy 4 991125 cacna1c DOID:0050451 - Brugada syndrome|DOID:0060173 - Timothy syndrome|DOID:0110220 - Brugada syndrome 3 991167 dzip1l DOID:0110861 - autosomal recessive polycystic kidney disease 991258 xpc DOID:0050427 - xeroderma pigmentosum|DOID:0110844 - xeroderma pigmentosum group C 991429 slc24a1 DOID:0050534 - congenital stationary night blindness|DOID:0110868 - congenital stationary night blindness 1D 991467 kbtbd13 DOID:0110935 - nemaline myopathy 6 991470 slc25a26 DOID:0111470 - combined oxidative phosphorylation deficiency 28 991482 tshr DOID:0070126 - congenital nongoitrous hypothryoidism 1|DOID:0081101 - nonautoimmune hyperthyroidism|DOID:0081102 - familial gestational hyperthyroidism|DOID:7998 - hyperthyroidism 991488 ocrl DOID:0050699 - Dent disease|DOID:1056 - oculocerebrorenal syndrome 991583 kcna2 DOID:0080416 - developmental and epileptic encephalopathy 32 991600 pgm3 DOID:0111953 - immunodeficiency 23 991669 prdm16 DOID:0060480 - left ventricular noncompaction|DOID:0081157 - dilated cardiomyopathy 1LL 991742 pof1b DOID:0080859 - primary ovarian insufficiency 2B|DOID:5426 - primary ovarian insufficiency 991800 sacs DOID:0050946 - Charlevoix-Saguenay spastic ataxia 991848 isca2 DOID:0080136 - multiple mitochondrial dysfunctions syndrome 4 991851 mlh3 DOID:1380 - endometrial cancer|DOID:9256 - colorectal cancer 991974 elp4 DOID:0070532 - aniridia 1|DOID:12271 - aniridia 992091 dcx DOID:0050453 - lissencephaly|DOID:0111169 - subcortical band heterotopia 992101 ammecr1 DOID:0111859 - midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis|DOID:0111860 - AMME complex 992131 mthfd1 DOID:0080074 - neural tube defect 992147 ltbp4 DOID:0070139 - autosomal recessive cutis laxa type IC|DOID:3144 - cutis laxa 992154 itpkc DOID:13378 - Kawasaki disease 992238 vipas39 DOID:0050763 - ARC syndrome 992382 slc35d1 DOID:0050775 - schneckenbecken dysplasia 992452 myh7 DOID:0060253 - scapuloperoneal myopathy|DOID:0060480 - left ventricular noncompaction|DOID:0070197 - distal myopathy 1|DOID:0080102 - congenital myopathy 4A|DOID:0110307 - hypertrophic cardiomyopathy 1|DOID:0110454 - dilated cardiomyopathy 1S|DOID:0111268 - autosomal recessive hyaline body myopathy|DOID:0111269 - autosomal dominant hyaline body myopathy|DOID:11720 - distal myopathy|DOID:14289 - Ebstein anomaly 992518 drd5 DOID:1094 - attention deficit hyperactivity disorder|DOID:529 - blepharospasm 992543 evc DOID:0111571 - Weyers acrofacial dysostosis|DOID:12714 - Ellis-Van Creveld syndrome 992619 dock6 DOID:0060227 - Adams-Oliver syndrome 992649 nfix DOID:0050858 - Marshall-Smith syndrome|DOID:0112102 - Sotos syndrome 2|DOID:14748 - Sotos syndrome 992717 ciita DOID:5812 - MHC class II deficiency|DOID:7148 - rheumatoid arthritis 992740 grin2a DOID:2538 - Landau-Kleffner syndrome|DOID:3329 - benign epilepsy with centrotemporal spikes 992768 dnaaf6 DOID:0111850 - primary ciliary dyskinesia 36 992874 wrn DOID:5688 - Werner syndrome 992884 aldh1a3 DOID:0060841 - isolated microphthalmia 8 992912 exosc9 DOID:0112323 - pontocerebellar hypoplasia type 1D 992966 iba57 DOID:0080135 - multiple mitochondrial dysfunctions syndrome 3|DOID:0110819 - hereditary spastic paraplegia 74 993051 opn1sw DOID:11661 - blue color blindness 993110 pex14 DOID:905 - Zellweger syndrome 993190 npr2 DOID:0070316 - Miura type epiphyseal chondrodysplasia|DOID:0080050 - acromesomelic dysplasia, Maroteaux type 993272 ndrg1 DOID:0110186 - Charcot-Marie-Tooth disease type 4D 993288 chst3 DOID:0050813 - spondyloepiphyseal dysplasia with congenital joint dislocations|DOID:0080575 - Larsen-like syndrome B3GAT3 type 993291 wdr11 DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0090087 - hypogonadotropic hypogonadism 14 with or without anosmia|DOID:3070 - high grade glioma|DOID:3614 - Kallmann syndrome 993312 znf365 DOID:580 - uric acid nephrolithiasis 993327 rtf1 DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080566 - congenital disorder of glycosylation In 993367 nmnat1 DOID:0050572 - cone-rod dystrophy|DOID:0110005 - Leber congenital amaurosis 9|DOID:14791 - Leber congenital amaurosis 993390 cacna1g DOID:0111742 - cerebellar ataxia type 42 993407 xylt2 DOID:2738 - pseudoxanthoma elasticum 993450 rfxap DOID:5812 - MHC class II deficiency 993454 phf8 DOID:0060812 - syndromic X-linked intellectual disability Siderius type 993469 tsr2 DOID:0111897 - Diamond-Blackfan anemia 14 with mandibulofacial dysostosis|DOID:1339 - Diamond-Blackfan anemia 993561 cstb DOID:0111452 - progressive myoclonus epilepsy 1A|DOID:3535 - Unverricht-Lundborg syndrome 993641 bcl11b DOID:0111979 - immunodeficiency 49 993651 tyk2 DOID:0111989 - immunodeficiency 35 993784 pccb DOID:14701 - propionic acidemia 993851 slc6a5 DOID:0060695 - hyperekplexia|DOID:0060696 - hyperekplexia 1|DOID:0060698 - hyperekplexia 3 993856 wbp2 DOID:0050565 - autosomal recessive nonsyndromic deafness 994031 mpdz DOID:10908 - hydrocephalus 994038 sra1 DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia 994076 gpr179 DOID:0050534 - congenital stationary night blindness|DOID:0110869 - congenital stationary night blindness 1E 994114 rusc2 DOID:0080239 - autosomal recessive intellectual developmental disorder 61 994159 comp DOID:0070303 - multiple epiphyseal dysplasia 1|DOID:0080047 - pseudoachondroplasia|DOID:12721 - multiple epiphyseal dysplasia 994225 pde1c DOID:0050564 - autosomal dominant nonsyndromic deafness 994243 topors DOID:0110391 - retinitis pigmentosa 31|DOID:10584 - retinitis pigmentosa 994257 upf3b DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0060821 - syndromic X-linked intellectual disability 14 994281 ferry3 DOID:0060308 - autosomal recessive intellectual developmental disorder 994324 tbxas1 DOID:0111047 - platelet-type bleeding disorder 14|DOID:0112251 - Ghosal hematodiaphyseal syndrome 994343 trim24 DOID:3969 - thyroid gland papillary carcinoma 994353 fbxo7 DOID:0060372 - autosomal recessive early-onset Parkinson disease 15 994461 ikzf3 DOID:1040 - chronic lymphocytic leukemia 994490 phka2 DOID:0111042 - glycogen storage disease IXa 994521 tbx22 DOID:0060613 - X-linked cleft palate with or without ankyloglossia|DOID:0111826 - Abruzzo-Erickson syndrome 994579 tmprss3 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110527 - autosomal recessive nonsyndromic deafness 8 994618 eogt DOID:0060227 - Adams-Oliver syndrome 994627 scn1b DOID:0050451 - Brugada syndrome|DOID:0050650 - familial atrial fibrillation|DOID:0060170 - generalized epilepsy with febrile seizures plus|DOID:0080455 - developmental and epileptic encephalopathy 52|DOID:0110222 - Brugada syndrome 5|DOID:0111073 - progressive familial heart block|DOID:0111302 - generalized epilepsy with febrile seizures plus 1 994654 fancm DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111095 - Fanconi anemia complementation group A|DOID:0111916 - spermatogenic failure 28|DOID:13636 - Fanconi anemia 994674 crh DOID:0060681 - autosomal dominant nocturnal frontal lobe epilepsy|DOID:0080150 - adrenocorticotropic hormone deficiency 994727 phkg2 DOID:0111043 - glycogen storage disease IXc 994750 cers1 DOID:0111451 - progressive myoclonus epilepsy 8 994836 bckdk DOID:0090126 - branched-chain keto acid dehydrogenase kinase deficiency 994893 lrsam1 DOID:0110169 - Charcot-Marie-Tooth disease axonal type 2P 994912 clpb DOID:0081133 - 3-methylglutaconic aciduria type 7a|DOID:0081134 - 3-methylglutaconic aciduria type 7b|DOID:0110003 - 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 994975 pde8b DOID:0060280 - primary pigmented nodular adrenocortical disease|DOID:4751 - striatonigral degeneration 994992 ildr1 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110500 - autosomal recessive nonsyndromic deafness 42 995002 taf4b DOID:0070182 - spermatogenic failure 13|DOID:14227 - azoospermia 995029 add1 DOID:10825 - essential hypertension 995051 sh3bp2 DOID:1856 - cherubism 995167 clcn7 DOID:0110938 - autosomal dominant osteopetrosis 2|DOID:0110942 - autosomal recessive osteopetrosis 1|DOID:0110944 - autosomal recessive osteopetrosis 4|DOID:0110945 - autosomal recessive osteopetrosis 6 995268 cwf19l1 DOID:0080064 - autosomal recessive spinocerebellar ataxia 17 995290 apc2 DOID:0081218 - autosomal recessive intellectual developmental disorder 74|DOID:0112104 - Sotos syndrome 3|DOID:14748 - Sotos syndrome 995305 ephx1 DOID:10591 - pre-eclampsia 995332 glo1 DOID:12849 - autistic disorder 995375 c1r DOID:0080986 - Ehlers-Danlos syndrome periodontal type 1 995409 c1s DOID:0080987 - Ehlers-Danlos syndrome periodontal type 2 995438 stag3 DOID:5426 - primary ovarian insufficiency 995462 stom DOID:0111562 - overhydrated hereditary stomatocytosis 995487 setd2 DOID:14748 - Sotos syndrome 995560 rab3gap1 DOID:0060237 - Warburg micro syndrome|DOID:0110716 - Warburg micro syndrome 1 995699 cldn14 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110487 - autosomal recessive nonsyndromic deafness 29 995709 grn DOID:0060672 - Grn-related frontotemporal lobar degeneration with Tdp43 inclusions|DOID:0110732 - neuronal ceroid lipofuscinosis 11 995775 sorl1 DOID:0080348 - Alzheimer's disease 1|DOID:10652 - Alzheimer's disease 995808 ogg1 DOID:0050387 - nonpapillary renal cell carcinoma 995847 chd4 DOID:0070529 - Sifrim-Hitz-Weiss syndrome 995876 bicd2l DOID:0070349 - spinal muscular atrophy with lower extremity predominant 2A 995987 tymp DOID:0080119 - mitochondrial DNA depletion syndrome 1 996012 hgd DOID:9270 - alkaptonuria 996060 bbs7 DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110129 - Bardet-Biedl syndrome 7|DOID:1935 - Bardet-Biedl syndrome 996079 tnfrsf1a DOID:0090018 - autosomal dominant familial periodic fever 996082 scnn1a DOID:0050477 - Liddle syndrome|DOID:0060854 - autosomal recessive pseudohypoaldosteronism type 1|DOID:9563 - bronchiectasis 996119 cavin1 DOID:0111138 - congenital generalized lipodystrophy type 4 996130 atp1a3 DOID:0050635 - alternating hemiplegia of childhood|DOID:0090056 - dystonia 12 996139 itih4 DOID:13810 - familial hypercholesterolemia 996191 nsmf DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0090085 - hypogonadotropic hypogonadism 9 with or without anosmia|DOID:3614 - Kallmann syndrome 996259 slc39a13 DOID:0080739 - Ehlers-Danlos syndrome spondylodysplastic type 3 996349 inpp5k DOID:0080195 - Marinesco-Sjogren syndrome|DOID:0080197 - congenital muscular dystrophy with cataracts and intellectual disability 996374 ywhae DOID:0060469 - Miller-Dieker lissencephaly syndrome 996387 polh DOID:0110847 - xeroderma pigmentosum variant type 996484 coasy DOID:0110740 - neurodegeneration with brain iron accumulation 6 996571 hcrt DOID:8986 - narcolepsy 996715 dnajb13 DOID:0050144 - Kartagener syndrome|DOID:0110610 - primary ciliary dyskinesia 34 996764 piga DOID:0050562 - West syndrome|DOID:0060284 - paroxysmal nocturnal hemoglobinuria|DOID:0080139 - multiple congenital anomalies-hypotonia-seizures syndrome 2 996786 prpf3 DOID:0110356 - retinitis pigmentosa 18|DOID:10584 - retinitis pigmentosa 996800 tars2 DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111465 - combined oxidative phosphorylation deficiency 21 996830 necap1 DOID:0080443 - developmental and epileptic encephalopathy 21 996839 atp13a2 DOID:0060556 - Kufor-Rakeb syndrome|DOID:0112348 - hereditary spastic paraplegia 78 996919 kcnc1 DOID:0111447 - progressive myoclonus epilepsy 7 996922 abcc8 DOID:0050524 - maturity-onset diabetes of the young|DOID:0060334 - transient neonatal diabetes mellitus|DOID:0060639 - permanent neonatal diabetes mellitus|DOID:0070219 - familial hyperinsulinemic hypoglycemia 1|DOID:0112262 - leucine-sensitive hypoglycemia of infancy|DOID:13317 - hyperinsulinemic hypoglycemia|DOID:9352 - type 2 diabetes mellitus 996930 ptpro DOID:1184 - nephrotic syndrome 996935 eps8 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110463 - autosomal recessive nonsyndromic deafness 102 997012 gp9 DOID:2217 - Bernard-Soulier syndrome 997154 kif1c DOID:0050941 - spastic ataxia 2 997186 atp6ap1.2 DOID:0112002 - immunodeficiency 47 997224 adk DOID:0111038 - hypermethioninemia due to adenosine kinase deficiency 997236 mocs1 DOID:0111164 - molybdenum cofactor deficiency type A 997245 blmh DOID:0080348 - Alzheimer's disease 1|DOID:10652 - Alzheimer's disease 997255 ganab DOID:0110860 - polycystic kidney disease 3|DOID:898 - autosomal dominant polycystic kidney disease 997313 cln3 DOID:0110731 - neuronal ceroid lipofuscinosis 3 997324 tpp1 DOID:0080059 - autosomal recessive spinocerebellar ataxia 7|DOID:0110726 - neuronal ceroid lipofuscinosis 2 997398 slc26a2 DOID:0050648 - atelosteogenesis|DOID:0070300 - multiple epiphyseal dysplasia 4|DOID:0080055 - achondrogenesis type IB|DOID:12721 - multiple epiphyseal dysplasia|DOID:14687 - diastrophic dysplasia 997412 col9a3 DOID:12721 - multiple epiphyseal dysplasia 997461 suz12 DOID:14731 - Weaver syndrome 997487 ndufs3 DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1|DOID:3652 - Leigh disease 997646 khk DOID:0111680 - essential fructosuria 997693 smpd1 DOID:0070111 - Niemann-Pick disease type A|DOID:0070112 - Niemann-Pick disease type B 997712 prpf6 DOID:0110411 - retinitis pigmentosa 60|DOID:10584 - retinitis pigmentosa 997730 eif2b4 DOID:0060868 - leukoencephalopathy with vanishing white matter|DOID:0070374 - leukoencephalopathy with vanishing white matter 1 997813 recql4 DOID:0050654 - Baller-Gerold syndrome|DOID:0050774 - rapadilino syndrome|DOID:2732 - Rothmund-Thomson syndrome 997996 orc1 DOID:0060306 - Meier-Gorlin syndrome 998105 pik3ca DOID:0080351 - CLOVES syndrome|DOID:0080764 - hereditary diffuse gastric cancer|DOID:0081001 - Cowden syndrome 5|DOID:0111162 - epidermal nevus|DOID:10534 - stomach cancer|DOID:1324 - lung cancer|DOID:1612 - breast cancer|DOID:2394 - ovarian cancer|DOID:6457 - Cowden syndrome|DOID:6498 - seborrheic keratosis|DOID:684 - hepatocellular carcinoma|DOID:9256 - colorectal cancer 998136 mutyh DOID:0050424 - familial adenomatous polyposis|DOID:0080410 - familial adenomatous polyposis 2|DOID:0080764 - hereditary diffuse gastric cancer|DOID:10534 - stomach cancer|DOID:5374 - pilomatrixoma 998159 c8b DOID:0060302 - type II complement component 8 deficiency 998177 dock7 DOID:0080415 - developmental and epileptic encephalopathy 23 998186 alg6 DOID:0050570 - congenital disorder of glycosylation type I 998202 myf6 DOID:11723 - Duchenne muscular dystrophy|DOID:14717 - centronuclear myopathy 998270 katnb1 DOID:0112236 - lissencephaly 6 998505 lztr1 DOID:0060580 - Noonan syndrome 2|DOID:0060588 - Noonan syndrome 10|DOID:0070481 - schwannomatosis 2|DOID:3071 - gliosarcoma|DOID:3074 - giant cell glioblastoma|DOID:3204 - schwannomatosis|DOID:3490 - Noonan syndrome 998595 cox7b DOID:0111808 - linear skin defects with multiple congenital anomalies 1|DOID:0111877 - linear skin defects with multiple congenital anomalies 2|DOID:10629 - microphthalmia 998605 magt1 DOID:0050776 - non-syndromic X-linked intellectual disability 998614 tnpo3 DOID:0110304 - autosomal dominant limb-girdle muscular dystrophy type 2 998623 irf5 DOID:0110895 - inflammatory bowel disease 14 998736 slitrk1 DOID:0050587 - trichotillomania|DOID:11119 - Gilles de la Tourette syndrome 998778 aimp2 DOID:0070404 - hypomyelinating leukodystrophy 17 998792 pms2 DOID:0112182 - mismatch repair cancer syndrome|DOID:3883 - Lynch syndrome 998836 col6a3 DOID:0050558 - Ullrich congenital muscular dystrophy|DOID:0050663 - Bethlem myopathy|DOID:0090050 - dystonia 27 998843 mlph DOID:0060834 - Griscelli syndrome type 3 998848 ugt1a1 DOID:2739 - Gilbert syndrome|DOID:3803 - Crigler-Najjar syndrome 998855 col6a1 DOID:0050558 - Ullrich congenital muscular dystrophy|DOID:0050663 - Bethlem myopathy|DOID:0060887 - ossification of the posterior longitudinal ligament of spine 998864 elmod2 DOID:0050156 - idiopathic pulmonary fibrosis 998875 mfsd8 DOID:0110722 - neuronal ceroid lipofuscinosis 7 998882 mmab DOID:0060743 - methylmalonic acidemia cblB type 998891 mvk DOID:0050452 - mevalonic aciduria 998898 trpv4 DOID:0050690 - brachyolmia|DOID:0110182 - Charcot-Marie-Tooth disease axonal type 2C|DOID:0111215 - autosomal dominant distal hereditary motor neuronopathy 8|DOID:0111514 - metatropic dysplasia|DOID:0111539 - parastremmatic dwarfism|DOID:0111552 - scapuloperoneal spinal muscular atrophy|DOID:0111553 - spondyloepiphyseal dysplasia Maroteaux type|DOID:0111554 - spondylometaphyseal dysplasia Kozlowski type 998916 crybb1 DOID:0110235 - cataract 2 multiple types|DOID:0110270 - cataract 17 multiple types 998931 cryba4 DOID:0110271 - cataract 23 998942 dgcr6 DOID:12583 - velocardiofacial syndrome 998968 pmm2 DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080552 - congenital disorder of glycosylation Ia 999122 ncf1 DOID:0070192 - autosomal recessive chronic granulomatous disease 1|DOID:3265 - chronic granulomatous disease 999130 gm2a DOID:4795 - GM2 gangliosidosis, AB variant 999159 slc3a1 DOID:0060858 - hypotonia-cystinuria syndrome|DOID:9266 - cystinuria 999203 mrps34 DOID:0111492 - combined oxidative phosphorylation deficiency 32 999238 anks3 DOID:758 - situs inversus 999311 dpp6 DOID:0070063 - autosomal dominant intellectual developmental disorder 33|DOID:14725 - autosomal dominant microcephaly 999330 rpl27 DOID:0111893 - Diamond-Blackfan anemia 16 999342 adra2b DOID:0111692 - familial adult myoclonic epilepsy 2 999347 nup133 DOID:0060364 - Galloway-Mowat syndrome 1 999354 lman2l DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081215 - autosomal recessive intellectual developmental disorder 52 999368 cnnm2 DOID:0060884 - renal hypomagnesemia 6 999399 elmod3 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110533 - autosomal recessive nonsyndromic deafness 88 999438 phf6 DOID:0050681 - Borjeson-Forssman-Lehmann syndrome 999485 ap2s1 DOID:0060702 - familial hypocalciuric hypercalcemia 3 999529 uros DOID:13271 - cutaneous porphyria 999540 tti2 DOID:0060308 - autosomal recessive intellectual developmental disorder 999723 star DOID:0050811 - congenital adrenal hyperplasia 999780 sec23a DOID:0070307 - craniolenticulosutural dysplasia 999943 ndufaf3 DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1 999973 mcm2 DOID:0050564 - autosomal dominant nonsyndromic deafness 999986 tmprss15 DOID:0111667 - enterokinase deficiency 999991 hgf DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110497 - autosomal recessive nonsyndromic deafness 39 999998 pmpcb DOID:0070332 - multiple mitochondrial dysfunctions syndrome 6 1000031 slc26a5 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110513 - autosomal recessive nonsyndromic deafness 61 1000058 yme1l1 DOID:0111436 - optic atrophy 11 1000106 galc DOID:10587 - Krabbe disease 1000121 ttc8 DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110130 - Bardet-Biedl syndrome 8|DOID:10584 - retinitis pigmentosa|DOID:1935 - Bardet-Biedl syndrome 1000271 mrpl44 DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111469 - combined oxidative phosphorylation deficiency 16 1000282 mrps22 DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111473 - combined oxidative phosphorylation deficiency 5|DOID:14450 - 46 XX gonadal dysgenesis 1000377 ppip5k2 DOID:0050565 - autosomal recessive nonsyndromic deafness 1000397 gabra2 DOID:0050741 - alcohol dependence 1000414 phox2b DOID:0060731 - congenital central hypoventilation syndrome 1000431 uchl1 DOID:0060892 - late onset Parkinson's disease|DOID:0112344 - hereditary spastic paraplegia 79B|DOID:14330 - Parkinson's disease 1000464 lrat DOID:0110188 - Leber congenital amaurosis 14|DOID:10584 - retinitis pigmentosa|DOID:14791 - Leber congenital amaurosis 1000475 ercc8 DOID:0060240 - UV-sensitive syndrome|DOID:0080907 - Cockayne syndrome A|DOID:2962 - Cockayne syndrome 1000496 KIAA0753 DOID:0060376 - Joubert syndrome with orofaciodigital defect 1000547 pola1 DOID:0050769 - N syndrome|DOID:0111834 - X-linked reticulate pigmentary disorder 1000590 galns DOID:0111391 - mucopolysaccharidosis IVA|DOID:12804 - mucopolysaccharidosis IV 1000615 fanca DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111095 - Fanconi anemia complementation group A|DOID:13636 - Fanconi anemia 1000683 pfkm DOID:11721 - glycogen storage disease VII 1000784 aco2 DOID:0050883 - infantile cerebellar-retinal degeneration|DOID:0111442 - optic atrophy 9 1000801 dpyd DOID:14218 - dihydropyrimidine dehydrogenase deficiency 1000809 abca4 DOID:0050572 - cone-rod dystrophy|DOID:0050817 - Stargardt disease|DOID:0110015 - age related macular degeneration 2|DOID:0110354 - retinitis pigmentosa 19|DOID:0111013 - cone-rod dystrophy 3|DOID:10584 - retinitis pigmentosa 1000976 rpl11 DOID:0111878 - Diamond-Blackfan anemia 7|DOID:1339 - Diamond-Blackfan anemia 1001003 mtr DOID:0050567 - orofacial cleft|DOID:0050733 - methylmalonic aciduria and homocystinuria type cblG|DOID:0080074 - neural tube defect|DOID:0080395 - orofacial cleft 1|DOID:0112256 - homocystinuria-megaloblastic anemia cblG type|DOID:14250 - Down syndrome 1001032 slc35a1 DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070258 - congenital disorder of glycosylation type IIf 1001068 hnmt DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081214 - autosomal recessive intellectual developmental disorder 51|DOID:2841 - asthma 1001094 cyp27a1.4 DOID:4810 - cerebrotendinous xanthomatosis 1001118 abcb6 DOID:0060304 - dyschromatosis universalis hereditaria 1001125 glb1 DOID:0080502 - GM1 gangliosidosis type 1|DOID:0111392 - mucopolysaccharidosis type IVB|DOID:12804 - mucopolysaccharidosis IV|DOID:3322 - GM1 gangliosidosis 1001137 lct.2 DOID:0111646 - congenital lactase deficiency|DOID:10604 - lactose intolerance 1001142 abca1 DOID:0080957 - primary hypoalphalipoproteinemia 1|DOID:13810 - familial hypercholesterolemia|DOID:1388 - Tangier disease 1001222 polr1d.1 DOID:2908 - Treacher Collins syndrome 1001243 pcyt1a DOID:0112300 - spondylometaphyseal dysplasia with cone-rod dystrophy|DOID:14791 - Leber congenital amaurosis 1001394 mib1 DOID:0060480 - left ventricular noncompaction 1001428 agl DOID:2748 - glycogen storage disease III 1001453 itpa DOID:0080458 - developmental and epileptic encephalopathy 35 1001463 tyrp1 DOID:0050632 - oculocutaneous albinism|DOID:0070097 - oculocutaneous albinism type III 1001538 adsl DOID:0050762 - adenylosuccinase lyase deficiency 1001554 ift27 DOID:0110123 - Bardet-Biedl syndrome 1|DOID:1935 - Bardet-Biedl syndrome 1001621 aga DOID:0050461 - aspartylglucosaminuria 1001645 slc25a4 DOID:0080130 - mitochondrial DNA depletion syndrome 12|DOID:0080132 - Sengers syndrome|DOID:0080335 - mitochondrial DNA depletion syndrome 12b|DOID:0111517 - autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2|DOID:0111521 - autosomal dominant progressive external ophthalmoplegia 1 1001684 morc2 DOID:0110181 - Charcot-Marie-Tooth disease axonal type 2Z 1001718 nop10 DOID:0070015 - autosomal recessive dyskeratosis congenita 1|DOID:2729 - dyskeratosis congenita 1001763 gemin4 DOID:0081263 - neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 1001771 nxn DOID:0060764 - autosomal recessive Robinow syndrome 1001789 pdlim4 DOID:11476 - osteoporosis 1001869 serpinb6 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110536 - autosomal recessive nonsyndromic deafness 91 1002013 hmgb3 DOID:0111811 - syndromic microphthalmia 13 1002029 mtm1 DOID:0111225 - centronuclear myopathy X-linked|DOID:14717 - centronuclear myopathy 1002041 stra6 DOID:0050819 - obsolete Matthew-Wood syndrome|DOID:0111807 - syndromic microphthalmia 9|DOID:10629 - microphthalmia 1002049 loxl1 DOID:13641 - exfoliation syndrome 1002099 slc25a12 DOID:0080349 - developmental and epileptic encephalopathy 39 1002141 dhdds DOID:0110352 - retinitis pigmentosa 59|DOID:10584 - retinitis pigmentosa 1002199 rd3 DOID:0110080 - Leber congenital amaurosis 12|DOID:14791 - Leber congenital amaurosis 1002204 cenpf DOID:0110595 - Stromme syndrome 1002221 myh9 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0060651 - MYH-9 related disease|DOID:0110548 - autosomal dominant nonsyndromic deafness 17 1002242 hmox1 DOID:3083 - chronic obstructive pulmonary disease 1002261 ndufa6 DOID:0060536 - mitochondrial complex I deficiency 1002380 cartpt DOID:9970 - obesity 1002396 hexb DOID:3323 - Sandhoff disease 1002413 cert1 DOID:0070064 - autosomal dominant intellectual developmental disorder 34 1002425 dst DOID:0070151 - hereditary sensory and autonomic neuropathy type 6|DOID:4644 - epidermolysis bullosa simplex 1002434 gclc DOID:0111681 - glutamate-cysteine ligase deficiency 1002493 nono DOID:0060817 - syndromic X-linked intellectual disability 34 1002595 fbp1 DOID:5204 - fructose-1,6-bisphosphatase deficiency 1002678 dnase1l3 DOID:9074 - systemic lupus erythematosus 1002731 ccdc65 DOID:0050144 - Kartagener syndrome|DOID:0110611 - primary ciliary dyskinesia 27 1002738 thpo DOID:2224 - essential thrombocythemia 1002763 klhl15 DOID:0112020 - non-syndromic X-linked intellectual disability 103 1002780 sat1 DOID:0080754 - X-linked keratosis follicularis spinulosa decalvans 1002815 tnc DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110581 - autosomal dominant nonsyndromic deafness 56 1002842 pafah1b1 DOID:0050453 - lissencephaly|DOID:0060469 - Miller-Dieker lissencephaly syndrome|DOID:0111169 - subcortical band heterotopia|DOID:0112237 - lissencephaly 1 1002899 nfu1 DOID:0080133 - multiple mitochondrial dysfunctions syndrome 1 1002955 cfl2 DOID:0110934 - nemaline myopathy 7 1003053 tecr DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081188 - autosomal recessive intellectual developmental disorder 14 1003102 parn DOID:0070024 - autosomal recessive dyskeratosis congenita 6|DOID:2729 - dyskeratosis congenita 1003138 bgn DOID:0111861 - Meester-Loeys syndrome|DOID:0112150 - X-linked spondyloepimetaphyseal dysplasia 1003153 dpm2 DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080571 - congenital disorder of glycosylation Iu 1003263 gnat1 DOID:0050534 - congenital stationary night blindness|DOID:0110714 - congenital stationary night blindness 1G|DOID:0110715 - congenital stationary night blindness autosomal dominant 3 1003363 sec24d DOID:0060438 - Cole-Carpenter syndrome 1003483 slc7a9 DOID:9266 - cystinuria 1003505 sbds DOID:0060479 - Shwachman-Diamond syndrome|DOID:0080023 - obsolete Shwachman-Diamond type metaphyseal dysplasia|DOID:12449 - aplastic anemia 1003541 zbtb18 DOID:0070052 - autosomal dominant intellectual developmental disorder 22 1003555 nid1 DOID:2785 - Dandy-Walker syndrome 1003562 coa6 DOID:0050713 - COX deficiency, infantile mitochondrial myopathy|DOID:0080360 - mitochondrial complex IV deficiency nuclear type 13 1003589 flcn DOID:0050387 - nonpapillary renal cell carcinoma|DOID:0050676 - Birt-Hogg-Dube syndrome|DOID:0060853 - Potocki-Lupski syndrome|DOID:0080218 - primary spontaneous pneumothorax|DOID:9256 - colorectal cancer 1003599 top3a DOID:0111524 - autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 1003643 gne DOID:0080718 - GNE myopathy|DOID:3429 - inclusion body myositis|DOID:3659 - sialuria 1003795 vrk1 DOID:0060265 - pontocerebellar hypoplasia type 1A 1003891 lca5 DOID:0110215 - Leber congenital amaurosis 5|DOID:14791 - Leber congenital amaurosis 1003993 med23 DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081190 - autosomal recessive intellectual developmental disorder 18 1004043 micos13 DOID:0110004 - 3-methylglutaconic aciduria type 3 1004062 rfxank DOID:5812 - MHC class II deficiency 1004081 dmxl2 DOID:0050564 - autosomal dominant nonsyndromic deafness 1004101 myo5a DOID:0060832 - Griscelli syndrome type 1|DOID:0060834 - Griscelli syndrome type 3 1004119 megf8 DOID:0060234 - Carpenter syndrome 1004149 f13a1 DOID:0080701 - prothrombin thrombophilia|DOID:0111907 - thrombophilia due to thrombin defect|DOID:2211 - factor XIII deficiency|DOID:2452 - thrombophilia 1004156 txnl4a DOID:0080695 - Burn-McKeown syndrome 1004317 impa1 DOID:0081221 - autosomal recessive intellectual developmental disorder 59 1004402 ppargc1b DOID:9970 - obesity 1004430 frem2 DOID:0090001 - Fraser syndrome|DOID:0111405 - Fraser syndrome 1|DOID:0111407 - Fraser syndrome 2 1004442 rnaseh2b DOID:0050629 - Aicardi-Goutieres syndrome 1004467 sbf2 DOID:0110190 - Charcot-Marie-Tooth disease type 4B2 1004599 msn DOID:0112001 - immunodeficiency 50 1004769 lama4 DOID:0110438 - dilated cardiomyopathy 1JJ 1004810 f12 DOID:0080940 - hereditary angioedema type III|DOID:14735 - hereditary angioedema|DOID:2231 - factor XII deficiency 1004832 nt5c3a DOID:583 - hemolytic anemia 1004857 pmp22 DOID:0050540 - Charcot-Marie-Tooth disease type 3|DOID:0060843 - hereditary neuropathy with liability to pressure palsies|DOID:0110148 - Charcot-Marie-Tooth disease type 1A|DOID:0110153 - Charcot-Marie-Tooth disease type 1E|DOID:12842 - Guillain-Barre syndrome 1004879 sptlc1 DOID:0070152 - hereditary sensory and autonomic neuropathy type 1A|DOID:0070162 - hereditary sensory and autonomic neuropathy type 1 1004922 nsdhl DOID:0111822 - CHILD syndrome|DOID:0111898 - CK syndrome 1004944 trpa1 DOID:0111729 - familial episodic pain syndrome 1 1004993 idh1 DOID:0060221 - Maffucci syndrome|DOID:3070 - high grade glioma|DOID:4624 - Ollier disease 1005055 zfyve26 DOID:0110768 - hereditary spastic paraplegia 15 1005104 serpinh1 DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110346 - osteogenesis imperfecta type 10|DOID:0111144 - preterm premature rupture of the membranes 1005159 polr1a DOID:0060353 - acrofacial dysostosis Cincinnati type 1005168 slc1a2 DOID:0060892 - late onset Parkinson's disease|DOID:0080442 - developmental and epileptic encephalopathy 41 1005173 sgsh DOID:0111395 - mucopolysaccharidosis type IIIA|DOID:12801 - mucopolysaccharidosis III 1005315 park7 DOID:0060370 - autosomal recessive early-onset Parkinson disease 7|DOID:0060894 - early-onset Parkinson's disease 1005346 piezo2 DOID:0050646 - distal arthrogryposis|DOID:0111607 - distal arthrogryposis type 3|DOID:0111608 - distal arthrogryposis type 5 1005401 mthfr DOID:0050567 - orofacial cleft|DOID:0080074 - neural tube defect|DOID:0080395 - orofacial cleft 1|DOID:0080701 - prothrombin thrombophilia|DOID:0111907 - thrombophilia due to thrombin defect|DOID:2452 - thrombophilia|DOID:5419 - schizophrenia|DOID:9263 - homocystinuria 1005435 pmfbp1 DOID:0111922 - spermatogenic failure 31 1005535 trim28 DOID:2154 - nephroblastoma 1005583 xk DOID:0112107 - McLeod syndrome 1005590 myo1e.1 DOID:0111131 - focal segmental glomerulosclerosis 6 1005615 nde1 DOID:0050453 - lissencephaly|DOID:0112235 - lissencephaly 4|DOID:4626 - hydranencephaly 1005706 oat.2 DOID:1415 - gyrate atrophy 1005778 drd2 DOID:0090034 - myoclonic dystonia 11 1006118 dguok DOID:0080121 - mitochondrial DNA depletion syndrome 3|DOID:0111516 - autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 1006141 atp6v1e1 DOID:0070136 - autosomal dominant cutis laxa 2|DOID:0070140 - autosomal recessive cutis laxa type IIC 1006154 stag1 DOID:0080238 - autosomal dominant intellectual developmental disorder 47 1006169 sos2 DOID:0060587 - Noonan syndrome 9|DOID:3490 - Noonan syndrome 1006199 otof DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110535 - autosomal recessive nonsyndromic deafness 9 1006253 ap1s2 DOID:0060800 - syndromic X-linked intellectual disability 5 1006265 ctns DOID:1064 - cystinosis 1006302 rpl18 DOID:1339 - Diamond-Blackfan anemia 1006361 alg1 DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080563 - congenital disorder of glycosylation Ik 1006448 plod2 DOID:0060231 - Bruck syndrome 1006487 sod1 DOID:0060193 - amyotrophic lateral sclerosis type 1|DOID:332 - amyotrophic lateral sclerosis 1006523 col9a2 DOID:12721 - multiple epiphyseal dysplasia 1006596 nup107 DOID:0060364 - Galloway-Mowat syndrome 1|DOID:14450 - 46 XX gonadal dysgenesis 1006626 ndufa11 DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1 1006660 mipep DOID:0111488 - combined oxidative phosphorylation deficiency 31 1006786 trim8 DOID:0050709 - early infantile epileptic encephalopathy 1006796 cyp17a1 DOID:0050811 - congenital adrenal hyperplasia 1006823 pld3 DOID:0110051 - Alzheimer's disease 19 1006846 prx DOID:0050540 - Charcot-Marie-Tooth disease type 3|DOID:0110193 - Charcot-Marie-Tooth disease type 4F 1006905 pomt2 DOID:0050560 - Walker-Warburg syndrome|DOID:0110298 - autosomal recessive limb-girdle muscular dystrophy type 2N|DOID:0112380 - muscular dystrophy-dystroglycanopathy type B2 1006993 ednra DOID:0060365 - mandibulofacial dysostosis with alopecia|DOID:6364 - migraine 1007048 pabpn1 DOID:11719 - oculopharyngeal muscular dystrophy 1007110 fkbp10 DOID:0060231 - Bruck syndrome|DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110340 - osteogenesis imperfecta type 4|DOID:0110351 - osteogenesis imperfecta type 11 1007277 hadh DOID:0070215 - familial hyperinsulinemic hypoglycemia 4|DOID:13317 - hyperinsulinemic hypoglycemia 1007289 cyp2u1 DOID:0110808 - hereditary spastic paraplegia 56 1007366 b4gat1 DOID:0050560 - Walker-Warburg syndrome|DOID:0050588 - muscular dystrophy-dystroglycanopathy type B1 1007449 cyp2a6.9 DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer 1007461 b9d2 DOID:0050778 - Meckel syndrome 1007471 bckdha DOID:9269 - maple syrup urine disease 1007522 mecr DOID:0081419 - childhood-onset dystonia with optic atrophy and basal ganglia abnormalities 1007544 psap DOID:0110961 - atypical Gaucher's disease due to saposin c deficiency|DOID:0111330 - combined saposin deficiency|DOID:10581 - metachromatic leukodystrophy 1007617 ndufaf1 DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1 1007652 nipal4 DOID:0060715 - autosomal recessive congenital ichthyosis 6|DOID:1699 - congenital ichthyosiform erythroderma 1007917 ercc6 DOID:0060240 - UV-sensitive syndrome|DOID:0080868 - primary ovarian insufficiency 11|DOID:0080908 - Cockayne syndrome B|DOID:0112158 - De Sanctis-Cacchione syndrome|DOID:1324 - lung cancer|DOID:2962 - Cockayne syndrome 1007973 rpgrip1 DOID:0050572 - cone-rod dystrophy|DOID:0110329 - Leber congenital amaurosis 6|DOID:0111016 - cone-rod dystrophy 13|DOID:14791 - Leber congenital amaurosis 1008006 dnajc21 DOID:0060479 - Shwachman-Diamond syndrome|DOID:0080023 - obsolete Shwachman-Diamond type metaphyseal dysplasia 1008071 unc13d DOID:0110921 - familial hemophagocytic lymphohistiocytosis 1|DOID:0110923 - familial hemophagocytic lymphohistiocytosis 3 1008077 acox1 DOID:0050797 - peroxisomal acyl-CoA oxidase deficiency 1008098 rad21 DOID:0080508 - Cornelia de Lange syndrome 4|DOID:11725 - Cornelia de Lange syndrome 1008313 med17 DOID:0111262 - infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 1008433 map3k1 DOID:0111769 - 46,XY sex reversal 6|DOID:14448 - 46,XY sex reversal 1008464 ndufa1 DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1 1008511 neurod2 DOID:0050709 - early infantile epileptic encephalopathy 1008561 mgme1 DOID:0080129 - mitochondrial DNA depletion syndrome 11 1008568 prps1 DOID:0050566 - X-linked nonsyndromic deafness|DOID:0050647 - Arts syndrome|DOID:0110210 - Charcot-Marie-Tooth disease X-linked recessive 5|DOID:0111260 - phosphoribosylpyrophosphate synthetase superactivity|DOID:0111739 - X-linked deafness 1 1008579 plp1 DOID:0110773 - hereditary spastic paraplegia 2|DOID:3210 - Pelizaeus-Merzbacher disease 1008595 gla DOID:14499 - Fabry disease 1008637 ncoa4 DOID:3969 - thyroid gland papillary carcinoma 1008649 frg1 DOID:11727 - facioscapulohumeral muscular dystrophy 1008676 ivd DOID:14753 - isovaleric acidemia 1008689 sptbn2 DOID:0050882 - spinocerebellar ataxia type 5|DOID:0080058 - autosomal recessive spinocerebellar ataxia 14 1008757 thap1 DOID:0090039 - torsion dystonia 6 1008783 st14 DOID:0060720 - autosomal recessive congenital ichthyosis 11 1008798 rbp3 DOID:0110393 - retinitis pigmentosa 66|DOID:10584 - retinitis pigmentosa 1008840 hsd3b7 DOID:0111071 - congenital bile acid synthesis defect 1 1008969 clp1 DOID:0060279 - pontocerebellar hypoplasia type 10 1008981 ndufs7 DOID:0060536 - mitochondrial complex I deficiency|DOID:3652 - Leigh disease 1009042 sh3pxd2b DOID:0111789 - Frank-Ter Haar syndrome 1009050 ap1s1 DOID:0060483 - MEDNIK syndrome 1009062 pex5 DOID:0080622 - peroxisome biogenesis disorder 2B|DOID:0110854 - rhizomelic chondrodysplasia punctata type 5|DOID:10588 - adrenoleukodystrophy|DOID:905 - Zellweger syndrome 1009088 hal.2 DOID:0060168 - histidinemia 1009101 rxylt1 DOID:0050560 - Walker-Warburg syndrome|DOID:0050588 - muscular dystrophy-dystroglycanopathy type B1 1009303 hlcs DOID:859 - holocarboxylase synthetase deficiency 1009306 vps26c DOID:14250 - Down syndrome 1009577 itga2b.1 DOID:0060691 - platelet-type bleeding disorder 16|DOID:2219 - Glanzmann's thrombasthenia 1009588 amacr DOID:0060602 - alpha-methylacyl-CoA racemase deficiency|DOID:0111068 - congenital bile acid synthesis defect 4 1009629 sparc DOID:0110338 - osteogenesis imperfecta type 17|DOID:0110340 - osteogenesis imperfecta type 4 1009672 hadhb DOID:0111277 - mitochondrial trifunctional protein deficiency 1009681 atl3 DOID:0070154 - hereditary sensory neuropathy type 1F|DOID:0070162 - hereditary sensory and autonomic neuropathy type 1 1009690 glud1 DOID:0070217 - familial hyperinsulinemic hypoglycemia 6|DOID:13317 - hyperinsulinemic hypoglycemia 1009701 ndufs6 DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1 1009724 ophn1 DOID:0050888 - syndromic intellectual disability 1009747 c4h19orf12 DOID:0110738 - neurodegeneration with brain iron accumulation 4|DOID:0110795 - hereditary spastic paraplegia 43 1009819 ercc3 DOID:0050427 - xeroderma pigmentosum|DOID:0110850 - xeroderma pigmentosum group B|DOID:0111869 - photosensitive trichothiodystrophy 2|DOID:0111873 - photosensitive trichothiodystrophy 1|DOID:2960 - photosensitive trichothiodystrophy 1009839 mapk10 DOID:0050561 - Lennox-Gastaut syndrome 1009885 myo1c DOID:0050564 - autosomal dominant nonsyndromic deafness 1009900 polr1c DOID:0060792 - hypomyelinating leukodystrophy 11|DOID:0080791 - Treacher Collins syndrome 3|DOID:2908 - Treacher Collins syndrome 1009953 crtap DOID:0110337 - osteogenesis imperfecta type 7|DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110340 - osteogenesis imperfecta type 4|DOID:0110341 - osteogenesis imperfecta type 2 1009963 itgb3 DOID:0060691 - platelet-type bleeding disorder 16|DOID:2219 - Glanzmann's thrombasthenia 1009974 myt1 DOID:2907 - Goldenhar syndrome 1009984 polg2 DOID:0111525 - autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 1010011 adgrv1 DOID:0110827 - Usher syndrome type 2|DOID:0110839 - Usher syndrome type 2C|DOID:0111305 - familial febrile seizures 4 1010018 ufc1 DOID:0070421 - neurodevelopmental disorder with spasticity and poor growth 1010028 ppox DOID:4346 - variegate porphyria 1010080 ucp2 DOID:9970 - obesity 1010169 csrp3 DOID:0110318 - hypertrophic cardiomyopathy 12|DOID:0110449 - dilated cardiomyopathy 1M 1010194 tafazzin DOID:0050476 - Barth syndrome 1010205 cps1 DOID:13042 - persistent fetal circulation syndrome|DOID:9280 - carbamoyl phosphate synthetase I deficiency disease 1010242 b3gat3 DOID:0080575 - Larsen-like syndrome B3GAT3 type 1010260 cdk5 DOID:0112231 - lissencephaly 7 with cerebellar hypoplasia 1010281 emc1 DOID:0081276 - cerebellar atrophy, visual impairment, and psychomotor retardation 1010300 alpl DOID:0110913 - adult hypophosphatasia|DOID:0110914 - infantile hypophosphatasia|DOID:0110915 - childhood hypophosphatasia 1010353 arid1b DOID:0070042 - Coffin-Siris syndrome 1|DOID:1925 - Coffin-Siris syndrome 1010360 pdcd10 DOID:0060671 - cerebral cavernous malformation 3 1010370 slc7a14 DOID:0110374 - retinitis pigmentosa 68|DOID:10584 - retinitis pigmentosa 1010387 dab1 DOID:0050984 - spinocerebellar ataxia type 37 1010392 nfia DOID:0060409 - NFIA-related disorder 1010419 phkb DOID:0111041 - glycogen storage disease IXb 1010431 hsd17b4 DOID:0050857 - Perrault syndrome|DOID:0090031 - D-bifunctional protein deficiency 1010482 gria3 DOID:0060823 - syndromic X-linked intellectual disability 94 1010488 atp7a DOID:0111196 - X-linked distal spinal muscular atrophy 3|DOID:0111272 - occipital horn syndrome|DOID:1838 - Menkes disease 1010562 ube3b DOID:0111456 - Kaufman oculocerebrofacial syndrome 1010579 f13b DOID:2211 - factor XIII deficiency 1010590 trmu DOID:0080778 - transient infantile liver failure|DOID:0111734 - aminoglycoside-induced deafness 1010598 kif21a DOID:0080143 - congenital fibrosis of the extraocular muscles|DOID:0081015 - congenital fibrosis of the extraocular muscles 1 1010661 kcna1 DOID:0050709 - early infantile epileptic encephalopathy|DOID:0050989 - episodic ataxia type 1|DOID:0090053 - episodic kinesigenic dyskinesia 1 1010697 abca3 DOID:12120 - pulmonary alveolar proteinosis 1010760 ogdh DOID:0081326 - oxoglutarate dehydrogenase deficiency 1010799 nhlrc1 DOID:3534 - Lafora disease 1010817 plat DOID:0111906 - thrombophilia due to decreased release of PLAT 1010833 usp9x DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112025 - female-restricted syndromic X-linked intellectual disability 99|DOID:0112026 - non-syndromic X-linked intellectual disability 99 1010840 bcor DOID:0111799 - syndromic microphthalmia 1|DOID:0111809 - syndromic microphthalmia 2|DOID:10629 - microphthalmia|DOID:4880 - kidney clear cell sarcoma 1010856 bub1b DOID:0080141 - mosaic variegated aneuploidy syndrome 1|DOID:9256 - colorectal cancer 1011013 lamb1 DOID:0050453 - lissencephaly|DOID:0112230 - lissencephaly 5 1011020 ankh DOID:0080033 - craniometaphyseal dysplasia|DOID:0080801 - autosomal dominant craniometaphyseal dysplasia|DOID:1156 - chondrocalcinosis 1011097 mme DOID:0110160 - Charcot-Marie-Tooth disease axonal type 2T|DOID:0111745 - cerebellar ataxia type 43 1011110 ifih1 DOID:0050629 - Aicardi-Goutieres syndrome|DOID:0110756 - type 1 diabetes mellitus 19|DOID:12361 - Graves' disease|DOID:7997 - thyrotoxicosis 1011133 gpd2 DOID:9352 - type 2 diabetes mellitus 1011169 atg16l1 DOID:0110885 - inflammatory bowel disease 10 1011225 mmut DOID:0060740 - methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1011236 efhc1 DOID:4890 - juvenile myoclonic epilepsy 1011276 ankrd11 DOID:14780 - KBG syndrome 1011285 ddit3 DOID:5363 - myxoid liposarcoma 1011298 scn8a DOID:0050709 - early infantile epileptic encephalopathy|DOID:0060169 - benign familial infantile epilepsy|DOID:0081118 - benign familial infantile seizures 5 1011369 ofd1 DOID:0050144 - Kartagener syndrome|DOID:0060248 - Simpson-Golabi-Behmel syndrome type 1|DOID:0060316 - orofaciodigital syndrome I|DOID:0060376 - Joubert syndrome with orofaciodigital defect|DOID:0080342 - Simpson-Golabi-Behmel syndrome type 2|DOID:0110981 - Joubert syndrome 10|DOID:10584 - retinitis pigmentosa 1011379 ppm1d DOID:1612 - breast cancer 1011390 oprm1 DOID:1827 - idiopathic generalized epilepsy 1011398 sos1 DOID:0060466 - gingival fibromatosis|DOID:0060582 - Noonan syndrome 4|DOID:3490 - Noonan syndrome 1011413 rgr DOID:0110394 - retinitis pigmentosa 44|DOID:10584 - retinitis pigmentosa 1011450 nrg1 DOID:0070082 - schizophrenia 6 1011463 rxfp2 DOID:11383 - cryptorchidism 1011466 pex16 DOID:905 - Zellweger syndrome 1011480 mcm4 DOID:0111967 - immunodeficiency 54 1011543 slc1a1 DOID:0060650 - dicarboxylic aminoaciduria|DOID:0070093 - schizophrenia 18 1011572 tmprss6 DOID:11252 - microcytic anemia 1011588 pole DOID:0050885 - IMAGe syndrome 1011597 pnp DOID:5813 - purine nucleoside phosphorylase deficiency 1011609 vps53 DOID:0060271 - pontocerebellar hypoplasia type 2E 1011614 rgs9bp DOID:0050335 - bradyopsia|DOID:0070363 - bradyopsia 1 1011627 tcf4 DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0060488 - Pitt-Hopkins syndrome|DOID:11555 - Fuchs' endothelial dystrophy 1011656 rdh5 DOID:11105 - fundus albipunctatus 1011698 gad1.1 DOID:10970 - spastic quadriplegic cerebral palsy 1011719 hhat DOID:0060644 - chondrodysplasia-pseudohermaphroditism syndrome 1011733 glrb DOID:0060695 - hyperekplexia|DOID:0060696 - hyperekplexia 1|DOID:0060697 - hyperekplexia 2 1011740 slc39a8 DOID:0070266 - congenital disorder of glycosylation type IIn 1011747 mttp DOID:1386 - abetalipoproteinemia|DOID:14221 - abdominal obesity-metabolic syndrome 1 1011782 efnb1 DOID:14737 - craniofrontonasal syndrome 1011795 fan1 DOID:0060911 - karyomegalic interstitial nephritis|DOID:3883 - Lynch syndrome 1011803 tmem231 DOID:0050778 - Meckel syndrome|DOID:0060373 - orofaciodigital syndrome III|DOID:0110980 - Joubert syndrome 1|DOID:0110989 - Joubert syndrome 20 1011827 tspan12 DOID:0050535 - exudative vitreoretinopathy|DOID:0111408 - exudative vitreoretinopathy 5 1011869 c1qtnf5 DOID:0060869 - late-onset retinal degeneration 1011877 tecta DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110479 - autosomal recessive nonsyndromic deafness 21|DOID:0110544 - autosomal dominant nonsyndromic deafness 12 1011882 rnaseh1 DOID:0111515 - autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 1011958 trim32 DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110133 - Bardet-Biedl syndrome 11|DOID:0110282 - autosomal recessive limb-girdle muscular dystrophy type 2H|DOID:1935 - Bardet-Biedl syndrome 1011979 arhgap26 DOID:0050458 - juvenile myelomonocytic leukemia 1012012 slc26a1 DOID:0080652 - calcium oxalate nephrolithiasis 1012023 lrrc8a DOID:0081136 - agammaglobulinemia 1|DOID:2583 - agammaglobulinemia 1012038 ak1 DOID:583 - hemolytic anemia 1012075 trpc6 DOID:0111129 - focal segmental glomerulosclerosis 2 1012124 arl11 DOID:1040 - chronic lymphocytic leukemia 1012149 lyst DOID:2935 - Chediak-Higashi syndrome 1012155 b3galnt2 DOID:0050560 - Walker-Warburg syndrome|DOID:0050588 - muscular dystrophy-dystroglycanopathy type B1|DOID:0060308 - autosomal recessive intellectual developmental disorder 1012187 kcnj2 DOID:0050434 - Andersen-Tawil syndrome|DOID:0050650 - familial atrial fibrillation|DOID:0050793 - short QT syndrome 1012191 cog1 DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070259 - congenital disorder of glycosylation type IIg 1012201 septin9 DOID:10383 - amyotrophic neuralgia 1012246 phex DOID:0050445 - X-linked dominant hypophosphatemic rickets 1012294 col12a1 DOID:0050558 - Ullrich congenital muscular dystrophy|DOID:0050663 - Bethlem myopathy 1012302 myo6 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110495 - autosomal recessive nonsyndromic deafness 37|DOID:0110552 - autosomal dominant nonsyndromic deafness 22 1012311 itpr3 DOID:9744 - type 1 diabetes mellitus 1012343 wdr72 DOID:0110061 - amelogenesis imperfecta hypomaturation type 2A3 1012364 ripk1 DOID:0111952 - immunodeficiency 57 1012377 zfyve27 DOID:0110784 - hereditary spastic paraplegia 33 1012402 ano3 DOID:0090052 - dystonia 24 1012454 cacnb4 DOID:0050993 - episodic ataxia type 5|DOID:1827 - idiopathic generalized epilepsy|DOID:4890 - juvenile myoclonic epilepsy 1012479 orc4 DOID:0060306 - Meier-Gorlin syndrome 1012530 mid2 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112048 - non-syndromic X-linked intellectual disability 101 1012536 efemp1 DOID:0060745 - Doyne honeycomb retinal dystrophy 1012539 stox1 DOID:10591 - pre-eclampsia 1012629 rev3l DOID:13501 - Moebius syndrome 1012637 grk1 DOID:0110712 - Oguchi disease-1|DOID:0110713 - Oguchi disease-2 1012658 herc2 DOID:0081203 - autosomal recessive intellectual developmental disorder 38|DOID:11983 - Prader-Willi syndrome 1012701 kera DOID:0060287 - cornea plana 1012704 nalcn DOID:0081048 - congenital limbs-face contractures-hypotonia-developmental delay syndrome 1012721 atr DOID:0050569 - Seckel syndrome|DOID:0070007 - Seckel syndrome 1 1012748 polr3a DOID:0060794 - hypomyelinating leukodystrophy 7 1012758 rims1 DOID:0050572 - cone-rod dystrophy|DOID:0111012 - cone-rod dystrophy 7 1012764 atg5 DOID:0080259 - autosomal recessive spinocerebellar ataxia 25 1012783 slc16a12 DOID:0070353 - cataract 47 1012795 abcc2 DOID:12308 - Dubin-Johnson syndrome 1012825 hsd11b2 DOID:0090121 - apparent mineralocorticoid excess|DOID:4367 - apparent mineralocorticoid excess syndrome 1012863 slc25a22 DOID:0050709 - early infantile epileptic encephalopathy|DOID:2481 - infantile epileptic encephalopathy|DOID:308 - early myoclonic encephalopathy 1012932 atp2a2 DOID:0050606 - acrokeratosis verruciformis|DOID:2734 - keratosis follicularis 1012945 clip1 DOID:0060308 - autosomal recessive intellectual developmental disorder 1013001 kcnn4 DOID:0111577 - dehydrated hereditary stomatocytosis 2 1013004 aldh5a1 DOID:0060175 - succinic semialdehyde dehydrogenase deficiency 1013017 dcdc2 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0111126 - nephronophthisis 19|DOID:4428 - dyslexia 1013035 cenpj DOID:0050569 - Seckel syndrome|DOID:10907 - microcephaly 1013053 plcd1 DOID:0080081 - nonsyndromic congenital nail disorder 3 1013087 gan DOID:0090068 - giant axonal neuropathy 1 1013099 pde4d DOID:0060421 - chromosome 5q12 deletion syndrome|DOID:14669 - acrodysostosis 1013139 akap10 DOID:0111073 - progressive familial heart block 1013148 trpv3 DOID:0111711 - focal nonepidermolytic palmoplantar keratoderma 2|DOID:0112013 - autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques 1013166 dse DOID:0080735 - Ehlers-Danlos syndrome kyphoscoliotic type 2|DOID:0080737 - Ehlers-Danlos syndrome musculocontractural type 2 1013199 ngf DOID:0070145 - hereditary sensory and autonomic neuropathy type 5 1013274 lonp1 DOID:0111274 - CODAS syndrome 1013330 slc25a13 DOID:0070341 - neonatal-onset type II citrullinemia|DOID:0070342 - adult-onset type II citrullinemia|DOID:9273 - citrullinemia 1013376 ap3b2 DOID:0080448 - developmental and epileptic encephalopathy 48 1013409 sts DOID:1700 - X-linked ichthyosis 1013421 tgm1 DOID:0060656 - autosomal recessive congenital ichthyosis 1|DOID:0060710 - autosomal recessive congenital ichthyosis 2|DOID:1699 - congenital ichthyosiform erythroderma 1013461 htt DOID:12858 - Huntington's disease 1013491 ntf4 DOID:1067 - open-angle glaucoma 1013508 ryr1 DOID:0080102 - congenital myopathy 4A|DOID:0080990 - King Denborough syndrome|DOID:0080991 - congenital myopathy 1B|DOID:3529 - congenital myopathy 1A|DOID:8545 - malignant hyperthermia 1013528 efemp2 DOID:0070133 - autosomal recessive cutis laxa type IB|DOID:0070135 - autosomal recessive cutis laxa type IA|DOID:0070144 - autosomal recessive cutis laxa type I|DOID:3144 - cutis laxa 1013536 adamts9 DOID:0111112 - nephronophthisis 1 1013543 sbf1 DOID:0110194 - Charcot-Marie-Tooth disease type 4B3 1013576 pex13 DOID:0080622 - peroxisome biogenesis disorder 2B|DOID:10588 - adrenoleukodystrophy|DOID:905 - Zellweger syndrome 1013590 kif1b DOID:0050771 - pheochromocytoma|DOID:0110154 - Charcot-Marie-Tooth disease type 2A1 1013606 ush1g DOID:0110826 - Usher syndrome type 1|DOID:0110834 - Usher syndrome type 1G 1013620 clint1 DOID:0070077 - schizophrenia 1 1013661 itgb4 DOID:0060733 - junctional epidermolysis bullosa with pyloric atresia|DOID:0060738 - junctional epidermolysis bullosa non-Herlitz type 1013666 trps1 DOID:0080376 - trichorhinophalangeal syndrome type III|DOID:14743 - trichorhinophalangeal syndrome type I|DOID:4998 - trichorhinophalangeal syndrome type II 1013714 fermt3 DOID:0110912 - leukocyte adhesion deficiency 3 1013764 tcap DOID:0110281 - autosomal recessive limb-girdle muscular dystrophy type 2G|DOID:0110328 - hypertrophic cardiomyopathy 25 1013830 cacna1a DOID:0050956 - spinocerebellar ataxia type 6|DOID:0050990 - episodic ataxia type 2|DOID:0060178 - familial hemiplegic migraine|DOID:0111181 - familial hemiplegic migraine 1 1013836 inppl1a DOID:0050775 - schneckenbecken dysplasia 1013839 cacna1f DOID:0050534 - congenital stationary night blindness|DOID:0050572 - cone-rod dystrophy|DOID:0050630 - Aland Island eye disease|DOID:0110871 - congenital stationary night blindness 2A|DOID:0111007 - X-linked cone-rod dystrophy 3 1013861 cdan1 DOID:0111398 - congenital dyserythropoietic anemia type Ia|DOID:1338 - congenital dyserythropoietic anemia 1013882 lgi4 DOID:0080978 - arthrogryposis multiplex congenita-1 1013892 chrna2 DOID:0060681 - autosomal dominant nocturnal frontal lobe epilepsy|DOID:0060685 - autosomal dominant nocturnal frontal lobe epilepsy 4|DOID:0081119 - benign familial infantile seizures 6 1013917 srgap1 DOID:3962 - thyroid gland follicular carcinoma 1013936 ccm2 DOID:0060670 - cerebral cavernous malformation 2 1013971 tenm4 DOID:0111432 - essential tremor 5 1013988 cyp2r1 DOID:0080887 - vitamin D-dependent rickets type 1B|DOID:10609 - rickets 1014027 shank3 DOID:0070091 - schizophrenia 15|DOID:0080354 - Phelan-McDermid syndrome 1014030 arsa.2 DOID:10581 - metachromatic leukodystrophy 1014038 trpc3 DOID:0111744 - cerebellar ataxia type 41 1014069 msh3 DOID:0080412 - familial adenomatous polyposis 4|DOID:1380 - endometrial cancer 1014101 gucy2d DOID:0050572 - cone-rod dystrophy|DOID:0110078 - Leber congenital amaurosis 1|DOID:0111010 - cone-rod dystrophy 5|DOID:0111011 - cone-rod dystrophy 6|DOID:14791 - Leber congenital amaurosis|DOID:980 - choroidal sclerosis 1014190 snca DOID:0060367 - autosomal dominant Parkinson disease 1|DOID:0060372 - autosomal recessive early-onset Parkinson disease 15|DOID:0060892 - late onset Parkinson's disease|DOID:0060895 - autosomal dominant Parkinson disease 4|DOID:12217 - Lewy body dementia 1014201 braf DOID:0060233 - cardiofaciocutaneous syndrome|DOID:0060578 - Noonan syndrome 1|DOID:0060585 - Noonan syndrome 7|DOID:0080550 - Noonan syndrome with multiple lentigines 3|DOID:0111460 - cardiofaciocutaneous syndrome 1|DOID:1324 - lung cancer|DOID:14291 - Noonan syndrome with multiple lentigines|DOID:2571 - Langerhans-cell histiocytosis|DOID:285 - hairy cell leukemia|DOID:3490 - Noonan syndrome|DOID:3840 - craniopharyngioma|DOID:4845 - pilomyxoid astrocytoma 1014217 ece1 DOID:10825 - essential hypertension 1014227 znf513 DOID:0110362 - retinitis pigmentosa 58|DOID:10584 - retinitis pigmentosa 1014320 rnf216 DOID:0111587 - Gordon Holmes syndrome 1014330 gtf2h5 DOID:0111871 - photosensitive trichothiodystrophy 3|DOID:0111873 - photosensitive trichothiodystrophy 1|DOID:2960 - photosensitive trichothiodystrophy 1014399 fa2h DOID:0110786 - hereditary spastic paraplegia 35 1014426 hint1 DOID:0050526 - Gamstorp-Wohlfart syndrome 1014459 arl13b DOID:0050777 - Joubert syndrome|DOID:0111003 - Joubert syndrome 8 1014565 slc16a1 DOID:0070214 - familial hyperinsulinemic hypoglycemia 7|DOID:13317 - hyperinsulinemic hypoglycemia 1014639 calm2 DOID:0050451 - Brugada syndrome|DOID:0110644 - long QT syndrome 1|DOID:0110656 - long QT syndrome 15 1014656 lrpprc DOID:0111180 - French Canadian Leigh disease|DOID:3652 - Leigh disease 1014667 ctsa DOID:0080540 - galactosialidosis 1014678 hprt1 DOID:0112127 - HRPT-related hyperuricemia|DOID:1919 - Lesch-Nyhan syndrome 1014699 bloc1s3 DOID:0060539 - Hermansky-Pudlak syndrome 1|DOID:0060546 - Hermansky-Pudlak syndrome 8 1014724 cask DOID:0050709 - early infantile epileptic encephalopathy|DOID:0060807 - syndromic X-linked intellectual disability Najm type|DOID:14711 - FG syndrome|DOID:2861 - congenital nonspherocytic hemolytic anemia 1014748 pigt DOID:0060284 - paroxysmal nocturnal hemoglobinuria|DOID:0080140 - multiple congenital anomalies-hypotonia-seizures syndrome 3 1014824 golga5 DOID:3969 - thyroid gland papillary carcinoma 1014835 ift80 DOID:0050592 - asphyxiating thoracic dystrophy|DOID:0110086 - asphyxiating thoracic dystrophy 2|DOID:9249 - Beemer-Langer syndrome 1014859 crppa DOID:0050560 - Walker-Warburg syndrome|DOID:0050588 - muscular dystrophy-dystroglycanopathy type B1|DOID:0110295 - autosomal recessive limb-girdle muscular dystrophy type 2U 1014887 cdt1 DOID:0060306 - Meier-Gorlin syndrome 1014973 rad51d DOID:5683 - hereditary breast ovarian cancer syndrome 1014985 pex12 DOID:0050444 - infantile Refsum disease|DOID:0081241 - peroxisome biogenesis disorder 3B|DOID:10582 - Refsum disease|DOID:905 - Zellweger syndrome 1015026 bcs1l DOID:0050677 - Bjornstad syndrome|DOID:0080111 - mitochondrial complex III deficiency nuclear type 1|DOID:0111139 - mitochondrial complex III deficiency|DOID:0111455 - GRACILE syndrome|DOID:3652 - Leigh disease 1015037 ift74 DOID:0081011 - Bardet-Biedl syndrome 22 1015056 slc20a2 DOID:0060230 - basal ganglia calcification 1015067 aptx DOID:0050730 - coenzyme Q10 deficiency disease|DOID:0050754 - ataxia with oculomotor apraxia type 1|DOID:0070238 - primary coenzyme Q10 deficiency 1 1015081 b4galt1.2 DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070256 - congenital disorder of glycosylation type IId 1015142 rft1 DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080566 - congenital disorder of glycosylation In 1015190 rad51c DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111096 - Fanconi anemia complementation group O|DOID:13636 - Fanconi anemia|DOID:5683 - hereditary breast ovarian cancer syndrome 1015245 ca12 DOID:0111371 - isolated hyperchlorhidrosis 1015288 kdf1 DOID:0111652 - ectodermal dysplasia 12 1015380 tctn2 DOID:0050777 - Joubert syndrome|DOID:0050778 - Meckel syndrome|DOID:0070122 - Meckel syndrome 8|DOID:0110980 - Joubert syndrome 1|DOID:0110993 - Joubert syndrome 24 1015465 mipol1 DOID:0111350 - Laurin-Sandrow syndrome 1015578 irf2bp2 DOID:0081156 - common variable immunodeficiency 14 1015697 pex7 DOID:0110851 - rhizomelic chondrodysplasia punctata type 1|DOID:10582 - Refsum disease 1015706 lmbrd1 DOID:0050717 - methylmalonic aciduria and homocystinuria type cblF 1015768 dag1 DOID:0050560 - Walker-Warburg syndrome|DOID:0110293 - autosomal recessive limb-girdle muscular dystrophy type 2P 1015786 tmem237 DOID:0050777 - Joubert syndrome|DOID:0110980 - Joubert syndrome 1|DOID:0110983 - Joubert syndrome 14|DOID:0110999 - Joubert syndrome 4 1015945 xpr1 DOID:0060230 - basal ganglia calcification 1015956 pik3r5 DOID:0050755 - spinocerebellar ataxia with axonal neuropathy 2|DOID:0060557 - ataxia with oculomotor apraxia type 3 1016002 cbfb DOID:9119 - acute myeloid leukemia 1016012 psat1 DOID:0050723 - PSAT deficiency|DOID:0080075 - Neu-Laxova syndrome 2 1016045 pycr1 DOID:0070137 - autosomal recessive cutis laxa type IIB|DOID:0070138 - autosomal recessive cutis laxa type IIIB|DOID:3144 - cutis laxa 1016057 rpl35a DOID:0111883 - Diamond-Blackfan anemia 5|DOID:1339 - Diamond-Blackfan anemia 1016149 champ1 DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070070 - autosomal dominant intellectual developmental disorder 40 1016213 rps29 DOID:0111889 - Diamond-Blackfan anemia 13|DOID:1339 - Diamond-Blackfan anemia 1016249 aspa DOID:3613 - Canavan disease 1016321 flvcr2 DOID:0111666 - proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 1016349 sem1 DOID:0090021 - split hand-foot malformation 1 1016372 rps17 DOID:0111890 - Diamond-Blackfan anemia 4|DOID:1339 - Diamond-Blackfan anemia 1016446 gcdh DOID:0111254 - glutaric acidemia I 1016596 plekha1 DOID:0110014 - age related macular degeneration 1 1016617 pex2 DOID:0050444 - infantile Refsum disease|DOID:0081241 - peroxisome biogenesis disorder 3B|DOID:10582 - Refsum disease|DOID:905 - Zellweger syndrome 1016660 homer2 DOID:0050564 - autosomal dominant nonsyndromic deafness 1016740 xrcc3 DOID:1612 - breast cancer 1016829 zdhhc9 DOID:0060824 - syndromic X-linked intellectual disability Raymond type 1016871 aifm1 DOID:0110212 - Charcot-Marie-Tooth disease X-linked recessive 4|DOID:0111502 - combined oxidative phosphorylation deficiency 6|DOID:0111741 - X-linked deafness 5 1016880 rad51 DOID:0111153 - congenital mirror movement disorder|DOID:13636 - Fanconi anemia|DOID:1612 - breast cancer 1017029 litaf DOID:0110151 - Charcot-Marie-Tooth disease type 1C 1017104 dyrk1a DOID:0070037 - autosomal dominant intellectual developmental disorder 7 1017115 egln1 DOID:0080338 - familial erythrocytosis 3 1017280 trim36 DOID:0060668 - anencephaly 1018148 rag2 DOID:0060010 - Omenn syndrome|DOID:0090013 - severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive|DOID:0112253 - combined cellular and humoral immune defects with granulomas 1018164 rb1 DOID:11054 - urinary bladder cancer|DOID:3347 - osteosarcoma|DOID:3376 - bone osteosarcoma|DOID:4648 - familial retinoblastoma|DOID:5409 - lung small cell carcinoma|DOID:768 - retinoblastoma 1018212 calr DOID:2224 - essential thrombocythemia|DOID:4971 - myelofibrosis 1018230 tbx3 DOID:0060614 - ulnar-mammary syndrome 1018295 fgfr2 DOID:0050331 - lacrimoauriculodentodigital syndrome 1|DOID:0050462 - Antley-Bixler syndrome with disordered steroidogenesis|DOID:0050660 - Beare-Stevenson cutis gyrata syndrome|DOID:0080764 - hereditary diffuse gastric cancer|DOID:0081290 - Antley-Bixler syndrome without disordered steroidogenesis|DOID:0111337 - Jackson-Weiss syndrome|DOID:10534 - stomach cancer|DOID:10591 - pre-eclampsia|DOID:12960 - acrocephalosyndactylia|DOID:14705 - Pfeiffer syndrome|DOID:14768 - Saethre-Chotzen syndrome|DOID:2339 - Crouzon syndrome 1018316 pth DOID:0111387 - familial isolated hypoparathyroidism|DOID:11199 - hypoparathyroidism 1018321 msmb.1 DOID:10283 - prostate cancer 1018329 mtnr1b DOID:9352 - type 2 diabetes mellitus 1018381 msmb.2 DOID:10283 - prostate cancer 1018395 msmb.3 DOID:10283 - prostate cancer 1018417 mc1r DOID:0050632 - oculocutaneous albinism|DOID:0070096 - oculocutaneous albinism type II|DOID:10611 - protein-losing enteropathy 1018461 mtnr1a DOID:0060041 - autism spectrum disorder 1018490 ush1c DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110473 - autosomal recessive nonsyndromic deafness 18A|DOID:0110826 - Usher syndrome type 1|DOID:0110830 - Usher syndrome type 1C 1018553 fgfr1 DOID:0050591 - tooth agenesis|DOID:0060857 - septooptic dysplasia|DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090083 - hypogonadotropic hypogonadism 2 with or without anosmia|DOID:0111337 - Jackson-Weiss syndrome|DOID:0111532 - osteoglophonic dysplasia|DOID:14705 - Pfeiffer syndrome|DOID:3614 - Kallmann syndrome|DOID:4845 - pilomyxoid astrocytoma 1019543 f8 DOID:12134 - factor VIII deficiency 1019570 npm1 DOID:2729 - dyskeratosis congenita|DOID:9119 - acute myeloid leukemia 1020975 stat3.2 DOID:0050751 - T-cell large granular lymphocyte leukemia|DOID:0060639 - permanent neonatal diabetes mellitus|DOID:3261 - hyper IgE recurrent infection syndrome 1|DOID:7465 - chronic NK-cell lymphocytosis 1032880 lpin1 DOID:0080108 - myoglobinuria 1032934 cyld DOID:0050693 - Brooke-Spiegler syndrome 1032966 ascl1 DOID:0060731 - congenital central hypoventilation syndrome 1033024 kdm5c DOID:0060809 - syndromic X-linked intellectual disability Claes-Jensen type 1033059 fance DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111084 - Fanconi anemia complementation group E|DOID:13636 - Fanconi anemia 1033685 ccdc88c DOID:0050986 - spinocerebellar ataxia type 40|DOID:10908 - hydrocephalus 1033867 ptch2 DOID:0050902 - medulloblastoma|DOID:0070365 - nevoid basal cell carcinoma syndrome 1|DOID:2512 - nevoid basal cell carcinoma syndrome|DOID:2513 - basal cell carcinoma 1034768 sox9 DOID:0050463 - campomelic dysplasia|DOID:0111775 - 46,XY sex reversal 10|DOID:14448 - 46,XY sex reversal 1113171 pcdh19 DOID:0050709 - early infantile epileptic encephalopathy|DOID:0060848 - developmental and epileptic encephalopathy 9 1194371 foxh1 DOID:0110881 - holoprosencephaly 1 1214886 slc26a2.2 DOID:0050648 - atelosteogenesis|DOID:0070300 - multiple epiphyseal dysplasia 4|DOID:0080055 - achondrogenesis type IB|DOID:12721 - multiple epiphyseal dysplasia|DOID:14687 - diastrophic dysplasia 1216135 ubtf.2 DOID:0070474 - childhood-onset neurodegeneration with brain atrophy 1216164 trim33 DOID:3969 - thyroid gland papillary carcinoma 1216226 deaf1 DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070054 - Vulto-van Silfout-de Vries syndrome 1217436 gtf2i DOID:1928 - Williams-Beuren syndrome 1217487 cel.2 DOID:0050524 - maturity-onset diabetes of the young|DOID:0111105 - maturity-onset diabetes of the young type 8 1217591 pbx1 DOID:0112359 - congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 1219003 pdgfrl.2 DOID:684 - hepatocellular carcinoma|DOID:9256 - colorectal cancer 1219041 avpr2c DOID:0081060 - X-linked nephrogenic diabetes insipidus|DOID:0112121 - nephrogenic syndrome of inappropriate antidiuresis|DOID:12387 - nephrogenic diabetes insipidus 1219065 znf238.2 DOID:0070052 - autosomal dominant intellectual developmental disorder 22 1219320 krt12.5 DOID:0060451 - Meesmann corneal dystrophy|DOID:0080670 - Meesmann corneal dystrophy 1 1221136 invs DOID:0050576 - Senior-Loken syndrome|DOID:0111113 - nephronophthisis 2|DOID:0111124 - nephronophthisis 16 1221148 ift140 DOID:0050592 - asphyxiating thoracic dystrophy|DOID:0110097 - short-rib thoracic dysplasia 9 with or without polydactyly|DOID:10584 - retinitis pigmentosa|DOID:14791 - Leber congenital amaurosis 1221170 ift172 DOID:0050592 - asphyxiating thoracic dystrophy|DOID:0110091 - short-rib thoracic dysplasia 10 with or without polydactyly|DOID:0110363 - retinitis pigmentosa 71|DOID:10584 - retinitis pigmentosa|DOID:1935 - Bardet-Biedl syndrome 1221179 mks1 DOID:0050777 - Joubert syndrome|DOID:0050778 - Meckel syndrome|DOID:0070115 - Meckel syndrome 1|DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110135 - Bardet-Biedl syndrome 13|DOID:0110997 - Joubert syndrome 28|DOID:1935 - Bardet-Biedl syndrome 1221197 cep290 DOID:0050576 - Senior-Loken syndrome|DOID:0050778 - Meckel syndrome|DOID:0070118 - Meckel syndrome 4|DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110136 - Bardet-Biedl syndrome 14|DOID:0110291 - Leber congenital amaurosis 10|DOID:0111000 - Joubert syndrome 5|DOID:14791 - Leber congenital amaurosis|DOID:1935 - Bardet-Biedl syndrome 1221321 gldc DOID:9268 - glycine encephalopathy 5471042 prf1 DOID:0060060 - non-Hodgkin lymphoma|DOID:0110921 - familial hemophagocytic lymphohistiocytosis 1|DOID:0110922 - familial hemophagocytic lymphohistiocytosis 2|DOID:12449 - aplastic anemia 5721344 wwox DOID:0080060 - autosomal recessive spinocerebellar ataxia 12|DOID:5041 - esophageal cancer 5721916 tcirg1 DOID:0110942 - autosomal recessive osteopetrosis 1|DOID:0110945 - autosomal recessive osteopetrosis 6 5725314 cdk5rap2 DOID:10907 - microcephaly 5729290 dym DOID:0060247 - Smith-McCort dysplasia|DOID:0081270 - Smith-McCort dysplasia 1|DOID:0111167 - Dyggve-Melchior-Clausen disease 5730171 ndufa12 DOID:3652 - Leigh disease 5730848 vma21 DOID:0050760 - X-linked myopathy with excessive autophagy 5731974 tinf2 DOID:0070014 - autosomal dominant dyskeratosis congenita 1|DOID:0070018 - autosomal dominant dyskeratosis congenita 3|DOID:0070026 - Revesz syndrome|DOID:2729 - dyskeratosis congenita 5732457 slc19a3.2 DOID:0090117 - thiamine-responsive megaloblastic anemia syndrome 5732838 adh1b DOID:0050741 - alcohol dependence 5732937 tulp1 DOID:0110189 - Leber congenital amaurosis 15|DOID:0110381 - retinitis pigmentosa 14|DOID:10584 - retinitis pigmentosa|DOID:14791 - Leber congenital amaurosis 5733377 rbmx DOID:0060826 - syndromic X-linked intellectual disability Shashi type 5733928 csnk1d DOID:0050628 - advanced sleep phase syndrome|DOID:0110012 - advanced sleep phase syndrome 2 5735053 lhfpl5 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110518 - autosomal recessive nonsyndromic deafness 67 5737413 lmod3 DOID:0110931 - nemaline myopathy 10 5742861 fth1.1 DOID:0111031 - hemochromatosis type 5 5744487 mttp.2 DOID:1386 - abetalipoproteinemia|DOID:14221 - abdominal obesity-metabolic syndrome 1 5745249 banf1 DOID:0081334 - Nestor-Guillermo progeria syndrome 5747741 pfn1 DOID:0060209 - amyotrophic lateral sclerosis type 18|DOID:332 - amyotrophic lateral sclerosis 5749320 picalm DOID:9119 - acute myeloid leukemia 5749721 tprkb DOID:0060364 - Galloway-Mowat syndrome 1|DOID:0080247 - Galloway-Mowat syndrome 5 5749882 maoa DOID:0060693 - Brunner Syndrome 5750414 znhit3 DOID:0080539 - PEHO syndrome 5750707 sugct DOID:0112246 - glutaric acidemia type 3 5751032 bpnt2 DOID:0112224 - chondrodysplasia with joint dislocations gPAPP type 5751246 tgfbi DOID:0060444 - granular corneal dystrophy 2|DOID:0060447 - epithelial basement membrane dystrophy|DOID:0060453 - Reis-Bucklers corneal dystrophy|DOID:0060455 - Thiel-Behnke corneal dystrophy 5751696 guca1al DOID:0050572 - cone-rod dystrophy|DOID:0050795 - cone dystrophy|DOID:0080314 - cone-rod dystrophy 14 5752258 bicd2 DOID:0070349 - spinal muscular atrophy with lower extremity predominant 2A 5752361 elp2 DOID:0081220 - autosomal recessive intellectual developmental disorder 58 5752621 pdyn DOID:0050973 - spinocerebellar ataxia type 23 5753498 dnah9 DOID:0050144 - Kartagener syndrome|DOID:758 - situs inversus 5753572 gnrhr DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:0090091 - hypogonadotropic hypogonadism 23 with or without anosmia 5753697 casq1 DOID:0080089 - tubular aggregate myopathy 1 5754722 cbs DOID:9263 - homocystinuria 5755356 slc2a1 DOID:0090044 - dystonia 9|DOID:0090045 - childhood onset GLUT1 deficiency syndrome 2|DOID:1825 - childhood absence epilepsy 5755862 mtmr14 DOID:14717 - centronuclear myopathy 5756124 cradd.2 DOID:0060308 - autosomal recessive intellectual developmental disorder 5756230 cxcr1 DOID:635 - acquired immunodeficiency syndrome 5757853 brwd3 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112045 - non-syndromic X-linked intellectual disability 93 5758497 ptpn3 DOID:4947 - cholangiocarcinoma 5759105 vcl DOID:0110321 - hypertrophic cardiomyopathy 15|DOID:0110446 - dilated cardiomyopathy 1W 5759990 was DOID:0050590 - severe congenital neutropenia|DOID:0112128 - X-linked severe congenital neutropenia|DOID:1588 - thrombocytopenia|DOID:9169 - Wiskott-Aldrich syndrome 5760120 myh2 DOID:0080719 - congenital myopathy 6|DOID:3429 - inclusion body myositis 5760737 dyrk1a.2 DOID:0070037 - autosomal dominant intellectual developmental disorder 7 5760843 kansl1 DOID:0050880 - Koolen de Vries syndrome|DOID:0070076 - obsolete Koolen-De Vries syndrome 5761258 epha2 DOID:0110229 - cataract 6 multiple types 5761533 dgat1 DOID:0060778 - congenital diarrhea 7 with exudative enteropathy 5761764 fbln1 DOID:0060242 - synpolydactyly 5761968 dync2h1 DOID:0050549 - Saldino-Noonan syndrome|DOID:0050592 - asphyxiating thoracic dystrophy|DOID:0110087 - asphyxiating thoracic dystrophy 3 5762129 apcdd1 DOID:0110698 - hypotrichosis 1 5762326 pc.2 DOID:3651 - pyruvate carboxylase deficiency disease 5764341 l2hgdh DOID:0050574 - L-2-hydroxyglutaric aciduria 5764717 sycp3 DOID:0070176 - spermatogenic failure 4|DOID:14227 - azoospermia 5764739 cyp2a6.7 DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer 5764769 gypc DOID:2373 - hereditary elliptocytosis 5765248 rnf168 DOID:0090113 - RIDDLE syndrome 5765420 chek2 DOID:0111504 - Li-Fraumeni syndrome 2|DOID:10283 - prostate cancer|DOID:1612 - breast cancer|DOID:3012 - Li-Fraumeni syndrome|DOID:3347 - osteosarcoma|DOID:3376 - bone osteosarcoma 5765473 g6pc1.2 DOID:2749 - glycogen storage disease Ia 5765544 aldh18a1 DOID:0070131 - autosomal dominant cutis laxa 3|DOID:0070132 - autosomal recessive cutis laxa type IIIA|DOID:0070142 - autosomal dominant cutis laxa|DOID:0110824 - hereditary spastic paraplegia 9A|DOID:0110825 - hereditary spastic paraplegia 9B|DOID:3144 - cutis laxa 5766173 dkc1 DOID:0070025 - X-linked dyskeratosis congenita|DOID:2729 - dyskeratosis congenita 5766973 slc38a8 DOID:0070531 - foveal hypoplasia 2 5768571 lrrk2 DOID:0060371 - autosomal dominant Parkinson disease 8|DOID:0060892 - late onset Parkinson's disease 5768779 slc6a8l DOID:0050800 - cerebral creatine deficiency syndrome 1 5770296 cpt1al DOID:0090129 - carnitine palmitoyltransferase I deficiency 5770340 xpnpep3 DOID:0111117 - nephronophthisis-like nephropathy 1 5770562 capn10 DOID:9352 - type 2 diabetes mellitus 5770602 cspp1 DOID:0050777 - Joubert syndrome|DOID:0050778 - Meckel syndrome|DOID:0110990 - Joubert syndrome 21 5771152 eef2.2 DOID:0050975 - spinocerebellar ataxia type 26 5771974 coa5 DOID:0050713 - COX deficiency, infantile mitochondrial myopathy|DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:0080359 - mitochondrial complex IV deficiency nuclear type 9|DOID:3762 - cytochrome-c oxidase deficiency disease 5776261 prss1 DOID:4989 - pancreatitis 5777076 rit1 DOID:0060586 - Noonan syndrome 8|DOID:3490 - Noonan syndrome 5777344 kcnj10 DOID:0050332 - enlarged vestibular aqueduct|DOID:0060484 - EAST syndrome|DOID:0060744 - Pendred Syndrome|DOID:0110498 - autosomal recessive nonsyndromic deafness 4 5777819 alg12 DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080559 - congenital disorder of glycosylation Ig 5779937 atad1 DOID:0060695 - hyperekplexia 5780939 fam149b1 DOID:0060376 - Joubert syndrome with orofaciodigital defect 5781988 washc5 DOID:0060565 - Ritscher-Schinzel syndrome|DOID:0060571 - Ritscher-Schinzel syndrome 1|DOID:0110823 - hereditary spastic paraplegia 8 5783231 pigy DOID:0070437 - hyperphosphatasia with impaired intellectual development syndrome 6 5784155 pet100 DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease 5784172 cox6a2 DOID:3762 - cytochrome-c oxidase deficiency disease 5784448 cth DOID:0090142 - cystathioninuria 5784935 ddost DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080569 - congenital disorder of glycosylation Ir 5785405 taf13 DOID:0081222 - autosomal recessive intellectual developmental disorder 60 5786074 sigmar1 DOID:0060207 - amyotrophic lateral sclerosis type 16|DOID:0111065 - autosomal recessive distal hereditary motor neuronopathy 2 5786977 lss DOID:0110267 - cataract 44 5787185 f7 DOID:2215 - factor VII deficiency 5787258 igh DOID:0050746 - mantle cell lymphoma 5789581 rnf170 DOID:0111170 - autosomal dominant sensory ataxia 1 5790347 ctrc DOID:4989 - pancreatitis 5791256 tbc1d32 DOID:0060340 - ciliopathy|DOID:0060382 - orofaciodigital syndrome IX|DOID:10584 - retinitis pigmentosa 5793395 crybb3 DOID:0110268 - cataract 22 multiple types 5793916 ehmt1 DOID:0060352 - Kleefstra syndrome 1|DOID:0070075 - obsolete Kleefstra Syndrome 5794200 erlin1 DOID:0110813 - hereditary spastic paraplegia 62 5796192 bms1 DOID:0080661 - nonsyndromic aplasia cutis congenita 5796324 fancf DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111088 - Fanconi anemia complementation group F|DOID:13636 - Fanconi anemia 5797082 abr DOID:0050902 - medulloblastoma 5797259 c7h12orf57 DOID:0111621 - Temtamy syndrome 5797457 fam83h DOID:0110055 - amelogenesis imperfecta type 3A 5797750 rhagl DOID:0050641 - Rh deficiency syndrome|DOID:0111562 - overhydrated hereditary stomatocytosis 5798520 ftsj1 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112034 - non-syndromic X-linked intellectual disability 9 5799123 cc2d1a DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081179 - autosomal recessive intellectual developmental disorder 3 5799149 gba2 DOID:0110798 - hereditary spastic paraplegia 46 5799693 tcf12 DOID:2340 - craniosynostosis 5799939 polr3b DOID:0060794 - hypomyelinating leukodystrophy 7|DOID:0060797 - hypomyelinating leukodystrophy 8|DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia 5800886 usp45 DOID:14791 - Leber congenital amaurosis 5801165 rap1a DOID:0060473 - Kabuki syndrome 5803973 slc25a46 DOID:0080068 - Charcot-Marie-Tooth disease type 6 5804365 serpina1 DOID:13372 - alpha 1-antitrypsin deficiency|DOID:3083 - chronic obstructive pulmonary disease 5805276 mrps16 DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111483 - combined oxidative phosphorylation deficiency 2 5806704 cyp2a6.8 DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer 5808158 hal.1 DOID:0060168 - histidinemia 5808637 steep1 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112054 - non-syndromic X-linked intellectual disability 107 5809222 wdr73 DOID:0060364 - Galloway-Mowat syndrome 1 5809272 socs3l DOID:0110100 - atopic dermatitis 4 5810263 tpx2 DOID:10283 - prostate cancer 5811282 otoa DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110480 - autosomal recessive nonsyndromic deafness 22 5811998 tmc6 DOID:13777 - epidermodysplasia verruciformis 5812146 dtnbp1 DOID:0060539 - Hermansky-Pudlak syndrome 1|DOID:0060545 - Hermansky-Pudlak syndrome 7|DOID:5419 - schizophrenia 5812329 scn3a DOID:0081424 - familial focal epilepsy with variable foci 4 5812528 rsrc1 DOID:0060308 - autosomal recessive intellectual developmental disorder 5812949 chmp1a DOID:0060277 - pontocerebellar hypoplasia type 8 5813136 arl11l.1 DOID:1040 - chronic lymphocytic leukemia 5813242 dmd DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0060561 - DMD-related dilated cardiomyopathy|DOID:0081164 - dilated cardiomyopathy 3B|DOID:0110461 - X-linked dilated cardiomyopathy|DOID:11723 - Duchenne muscular dystrophy|DOID:9883 - Becker muscular dystrophy 5813246 dmd DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0060561 - DMD-related dilated cardiomyopathy|DOID:0081164 - dilated cardiomyopathy 3B|DOID:0110461 - X-linked dilated cardiomyopathy|DOID:11723 - Duchenne muscular dystrophy|DOID:9883 - Becker muscular dystrophy 5813350 elp1 DOID:11589 - Riley-Day syndrome 5813434 spidr DOID:14450 - 46 XX gonadal dysgenesis 5814282 slc25a38 DOID:0060065 - autosomal recessive pyridoxine-refractory sideroblastic anemia 2 5814344 rapgef2 DOID:0111694 - familial adult myoclonic epilepsy 7 5815089 cav3.2 DOID:0060255 - rippling muscle disease 2|DOID:0110302 - autosomal dominant limb-girdle muscular dystrophy type 1C|DOID:0110307 - hypertrophic cardiomyopathy 1|DOID:0110644 - long QT syndrome 1|DOID:0110650 - long QT syndrome 9|DOID:0111191 - distal myopathy Tateyama type|DOID:0111338 - isolated elevated serum creatine phosphokinase levels 5815160 gabbr2 DOID:0080291 - developmental and epileptic encephalopathy 59 5815522 cplx1 DOID:0050460 - Wolf-Hirschhorn syndrome|DOID:0080426 - developmental and epileptic encephalopathy 63 5815682 grhpr.2 DOID:0111671 - primary hyperoxaluria type 2|DOID:2977 - primary hyperoxaluria 5817034 kcnq4 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110558 - autosomal dominant nonsyndromic deafness 2A 5818691 pgap1 DOID:0060308 - autosomal recessive intellectual developmental disorder 5818914 nprl3 DOID:0081423 - familial focal epilepsy with variable foci 3 5820823 wdpcp DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0111591 - congenital heart defects, hamartomas of tongue, and polysyndactyly|DOID:1935 - Bardet-Biedl syndrome 5821021 fam161a DOID:0110365 - retinitis pigmentosa 28|DOID:10584 - retinitis pigmentosa 5821387 spef2 DOID:0050144 - Kartagener syndrome 5821574 cyp3a5 DOID:10825 - essential hypertension 5822251 satb2 DOID:0060428 - SATB2-associated syndrome|DOID:0110213 - isolated cleft palate 5823860 pip5k1c DOID:0060653 - lethal congenital contracture syndrome 3 5823873 cacna1s DOID:14452 - hypokalemic periodic paralysis 5824075 slc6a1 DOID:0060475 - myoclonic-atonic epilepsy 5824085 vkorc1 DOID:0080665 - warfarin resistance|DOID:0112174 - combined deficiency of vitamin K-dependent clotting factors 2 5824648 mtrr DOID:0050732 - methylmalonic aciduria and homocystinuria type cblE|DOID:0080074 - neural tube defect|DOID:0112255 - homocystinuria-megaloblastic anemia cblE type 5825104 idh3b DOID:0110409 - retinitis pigmentosa 46|DOID:10584 - retinitis pigmentosa 5825359 stx3 DOID:0060775 - microvillus inclusion disease 5825461 pkp2 DOID:0060480 - left ventricular noncompaction|DOID:0110077 - arrhythmogenic right ventricular dysplasia 9 5825895 tbc1d20.2 DOID:0110719 - Warburg micro syndrome 4 5827245 tecpr2 DOID:0110801 - hereditary spastic paraplegia 49 5828963 dna2 DOID:0070009 - Seckel syndrome 8|DOID:0111519 - autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 5829005 gp1bb DOID:2217 - Bernard-Soulier syndrome 5830281 gad1.2 DOID:10970 - spastic quadriplegic cerebral palsy 5830876 med25 DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0110179 - Charcot-Marie-Tooth disease type 2B2 5831849 opcml DOID:2394 - ovarian cancer 5831951 rpgrip1l DOID:0050778 - Meckel syndrome|DOID:0070119 - Meckel syndrome 5|DOID:0110999 - Joubert syndrome 4|DOID:0111002 - Joubert syndrome 7|DOID:0111589 - COACH syndrome 5832580 naga DOID:0112318 - Schindler disease type 1|DOID:0112319 - Kanzaki disease 5832672 rps15 DOID:1040 - chronic lymphocytic leukemia 5833231 uvssa DOID:0060240 - UV-sensitive syndrome 5834443 tuba1cl.3 DOID:0050453 - lissencephaly|DOID:0112232 - lissencephaly 3 5836256 f13bl DOID:2211 - factor XIII deficiency 5838515 ank1 DOID:0110916 - hereditary spherocytosis type 1|DOID:12971 - hereditary spherocytosis 5838710 mlh1 DOID:0050465 - Muir-Torre syndrome|DOID:0112182 - mismatch repair cancer syndrome|DOID:3883 - Lynch syndrome 5839239 rad54b DOID:0060060 - non-Hodgkin lymphoma 5839499 ahdc1 DOID:0070055 - Xia-Gibbs Syndrome 5839558 marveld2 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110506 - autosomal recessive nonsyndromic deafness 49 5840003 dnase1 DOID:9074 - systemic lupus erythematosus 5841560 tmem199 DOID:0070268 - congenital disorder of glycosylation type IIp 5842213 gins1 DOID:0111993 - immunodeficiency 55 5842911 dnajc19 DOID:0110000 - 3-methylglutaconic aciduria type 5 5842995 arl3l2 DOID:0050777 - Joubert syndrome|DOID:10584 - retinitis pigmentosa 5843080 setd5 DOID:0070053 - autosomal dominant intellectual developmental disorder 23|DOID:11725 - Cornelia de Lange syndrome 5843474 tent5a DOID:0111848 - osteogenesis imperfecta type 18 5843536 scyl1 DOID:0111155 - autosomal recessive spinocerebellar ataxia 21 5843725 tmem106b DOID:0070405 - hypomyelinating leukodystrophy 16 5843767 prkcsh DOID:0050770 - polycystic liver disease 5844203 akr1c2 DOID:0111773 - 46,XY sex reversal 8|DOID:14448 - 46,XY sex reversal 5844483 trappc9 DOID:0050889 - non-syndromic intellectual disability|DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081098 - autosomal recessive intellectual developmental disorder 13 5845784 sprtn DOID:0111264 - Ruijs-Aalfs syndrome 5845945 acox2 DOID:0111067 - congenital bile acid synthesis defect 6 5847664 liph DOID:0110704 - hypotrichosis 7 5848648 gpr143 DOID:0050633 - ocular albinism 1|DOID:0111795 - congenital nystagmus 6|DOID:9649 - congenital nystagmus 5848873 rs1 DOID:0060763 - X-linked juvenile retinoschisis 1 5848952 aprt DOID:0060350 - adenine phosphoribosyltransferase deficiency 5849691 tmem38b DOID:0110340 - osteogenesis imperfecta type 4|DOID:0110343 - osteogenesis imperfecta type 14 5850296 ufsp2 DOID:0111367 - Beukes hip dysplasia 5850463 klhl41 DOID:0110929 - nemaline myopathy 9 5851600 hmmr DOID:1612 - breast cancer 5852261 cradd.1 DOID:0060308 - autosomal recessive intellectual developmental disorder 5852281 polr1d.2 DOID:2908 - Treacher Collins syndrome 5852767 ndufaf4 DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1 5854282 phgdh DOID:0050722 - PHGDH deficiency|DOID:0080076 - Neu-Laxova syndrome 1 5855161 sdhd DOID:0050657 - Bannayan-Riley-Ruvalcaba syndrome|DOID:0050771 - pheochromocytoma|DOID:0050773 - paraganglioma|DOID:0050925 - small intestine carcinoid neuroendocrine tumor|DOID:0060537 - mitochondrial complex II deficiency|DOID:0080533 - Carney-Stratakis syndrome|DOID:6457 - Cowden syndrome 5857190 gopc DOID:0070167 - spermatogenic failure 6|DOID:14227 - azoospermia 5857401 gtf2ird1 DOID:1928 - Williams-Beuren syndrome 5858610 nlrc4 DOID:0090061 - familial cold autoinflammatory syndrome|DOID:0090065 - familial cold autoinflammatory syndrome 4 5858667 asxl3 DOID:0080893 - Bainbridge-Ropers syndrome 5858685 slc22a4 DOID:0110892 - inflammatory bowel disease 1|DOID:7148 - rheumatoid arthritis 5859300 tmem98 DOID:0080634 - nanophthalmos|DOID:10629 - microphthalmia 5862161 mars2 DOID:0050942 - spastic ataxia 3|DOID:0111468 - combined oxidative phosphorylation deficiency 25 5862184 inf2 DOID:0110205 - Charcot-Marie-Tooth disease dominant intermediate E|DOID:0111130 - focal segmental glomerulosclerosis 5 5863425 hdac8 DOID:0060814 - Wilson-Turner syndrome|DOID:11725 - Cornelia de Lange syndrome 5863746 bbip1 DOID:1935 - Bardet-Biedl syndrome 5864291 col3a1 DOID:14756 - vascular type Ehlers-Danlos syndrome|DOID:14757 - Ehlers-Danlos syndrome hypermobility type 5865480 comt.2 DOID:5419 - schizophrenia|DOID:594 - panic disorder 5866499 crybb2 DOID:0110235 - cataract 2 multiple types|DOID:0110269 - cataract 3 multiple types 5866532 prodh DOID:0070080 - schizophrenia 4|DOID:0080542 - hyperprolinemia type 1 5867564 pigq DOID:0050709 - early infantile epileptic encephalopathy 5867928 palb2 DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111094 - Fanconi anemia complementation group N|DOID:13636 - Fanconi anemia|DOID:1612 - breast cancer 5867970 kcnd3 DOID:0050451 - Brugada syndrome|DOID:0050970 - spinocerebellar ataxia type 19/22|DOID:0110226 - Brugada syndrome 9 5868351 spg11 DOID:0060197 - amyotrophic lateral sclerosis type 5|DOID:0110176 - Charcot-Marie-Tooth disease axonal type 2X|DOID:0110764 - hereditary spastic paraplegia 11 5868905 mt-co1 DOID:0111751 - mitochondrial nonsyndromic sensorineural deafness|DOID:3687 - MELAS syndrome|DOID:3762 - cytochrome-c oxidase deficiency disease 5869910 gosr2 DOID:0111449 - progressive myoclonus epilepsy 6|DOID:891 - progressive myoclonus epilepsy 5870366 vamp1 DOID:0050772 - spastic ataxia 1 5870377 slc6a19 DOID:0112265 - iminoglycinuria|DOID:1060 - Hartnup disease 5870536 mcm6.2 DOID:10604 - lactose intolerance 5871493 traf3ip1 DOID:0050576 - Senior-Loken syndrome 5871551 cyp27a1.5 (prov) DOID:4810 - cerebrotendinous xanthomatosis 5871696 c1h9orf72 DOID:0060213 - frontotemporal dementia and/or amyotrophic lateral sclerosis-1|DOID:332 - amyotrophic lateral sclerosis 5871723 b4galt1.1 DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070256 - congenital disorder of glycosylation type IId 5872142 cep120 DOID:0050592 - asphyxiating thoracic dystrophy|DOID:0050777 - Joubert syndrome|DOID:0080277 - Joubert syndrome 31|DOID:0110093 - short-rib thoracic dysplasia 13 with or without polydactyly 5872333 nhs DOID:0060599 - Nance-Horan syndrome|DOID:0110272 - cataract 40 5872779 apob DOID:0111062 - familial hypobetalipoproteinemia 1 5873170 cst3 DOID:0070027 - CST3-related cerebral amyloid angiopathy|DOID:0110023 - age related macular degeneration 11 5873780 man1b1 DOID:0050889 - non-syndromic intellectual disability|DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081097 - Rafiq syndrome 5873934 hdac6 DOID:0112106 - chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 5874063 uba1 DOID:0111827 - X-linked spinal muscular atrophy 2 5874684 umps DOID:0050833 - orotic aciduria 5875738 capn3 DOID:0110275 - autosomal recessive limb-girdle muscular dystrophy type 2A 5876528 ctsf DOID:0110727 - neuronal ceroid lipofuscinosis 13 5876582 acadvl DOID:0080155 - very long chain acyl-CoA dehydrogenase deficiency 5876966 ctsk DOID:0080038 - pycnodysostosis 5877282 snrpb DOID:0111248 - cerebrocostomandibular syndrome 5878273 tgm6 DOID:0050982 - spinocerebellar ataxia type 35 5878288 cad DOID:0080419 - developmental and epileptic encephalopathy 50 5878699 twist2 DOID:0060549 - Barber-Say syndrome|DOID:0060550 - ablepharon macrostomia syndrome 5879292 dlx3 DOID:0110053 - amelogenesis imperfecta type 4|DOID:0111565 - trichodontoosseous syndrome 5879818 ahi1 DOID:0050777 - Joubert syndrome|DOID:0110998 - Joubert syndrome 3|DOID:10584 - retinitis pigmentosa 5879909 nop56 DOID:0050983 - spinocerebellar ataxia type 36 5880491 sting1 DOID:0111457 - STING-associated vasculopathy with onset in infancy 5882296 proc.2 DOID:0111904 - autosomal recessive thrombophilia due to protein C deficiency|DOID:0111909 - autosomal dominant thrombophilia due to protein C deficiency|DOID:3756 - protein C deficiency 5883771 hells DOID:0090007 - immunodeficiency-centromeric instability-facial anomalies syndrome|DOID:0090011 - immunodeficiency-centromeric instability-facial anomalies syndrome 4 5883976 ccdc88a DOID:0080539 - PEHO syndrome 5884136 tmtc3 DOID:0050454 - periventricular nodular heterotopia|DOID:0112233 - lissencephaly 8 5884185 ddr2l DOID:0112196 - spondylometaepiphyseal dysplasia, short limb-hand type 5884410 cep78 DOID:0110828 - Usher syndrome type 3 5885004 acad9 DOID:0112072 - nuclear type mitochondrial complex I deficiency 20 5886291 tubb3 DOID:0080143 - congenital fibrosis of the extraocular muscles|DOID:0081017 - congenital fibrosis of the extraocular muscles 3A|DOID:0090137 - complex cortical dysplasia with other brain malformations 1 5886875 tctn1 DOID:0050777 - Joubert syndrome|DOID:0110982 - Joubert syndrome 13 5887192 lage3 DOID:0060364 - Galloway-Mowat syndrome 1|DOID:0080244 - Galloway-Mowat syndrome 2 5887238 kcne3 DOID:0050451 - Brugada syndrome|DOID:0110223 - Brugada syndrome 6|DOID:14452 - hypokalemic periodic paralysis 5887345 eral1 DOID:0050857 - Perrault syndrome|DOID:0080256 - Perrault syndrome 6 5887532 dnaaf2 DOID:0050144 - Kartagener syndrome|DOID:0110612 - primary ciliary dyskinesia 10 5887771 ndufb10 DOID:0060536 - mitochondrial complex I deficiency 5888636 ctnnd2 DOID:12580 - Cri-Du-Chat syndrome 5888836 coq4 DOID:0070244 - primary coenzyme Q10 deficiency 7 5889202 ttll5 DOID:0050572 - cone-rod dystrophy|DOID:0111025 - cone-rod dystrophy 19 5889577 cyp4f22 DOID:0060714 - autosomal recessive congenital ichthyosis 5 5890819 edc3 DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081213 - autosomal recessive intellectual developmental disorder 50 5892299 cyp2a6.2 DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer 5892316 kiz DOID:0110410 - retinitis pigmentosa 69|DOID:10584 - retinitis pigmentosa 5893103 tdrd9 DOID:0111913 - spermatogenic failure 30 5893466 tbc1d23 DOID:0112324 - pontocerebellar hypoplasia type 11 5894592 septin12 DOID:0070178 - spermatogenic failure 10|DOID:14227 - azoospermia 5894853 efl1 DOID:0080023 - obsolete Shwachman-Diamond type metaphyseal dysplasia 5894879 hfm1 DOID:0080866 - primary ovarian insufficiency 9|DOID:5426 - primary ovarian insufficiency 5894897 c7 DOID:0060300 - complement component 7 deficiency 5895372 ccdc78 DOID:14717 - centronuclear myopathy 5895461 ercc1 DOID:0080914 - cerebrooculofacioskeletal syndrome 4 5895777 cdkal1 DOID:9352 - type 2 diabetes mellitus 5895887 akr1c4 DOID:0111773 - 46,XY sex reversal 8|DOID:14448 - 46,XY sex reversal 5896601 foxred1 DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1|DOID:3652 - Leigh disease 5896976 cyp7b1 DOID:0110810 - hereditary spastic paraplegia 5A|DOID:0111070 - congenital bile acid synthesis defect 3 5898520 sil1 DOID:0080195 - Marinesco-Sjogren syndrome 5899455 setbp1 DOID:0070059 - autosomal dominant intellectual developmental disorder 29|DOID:0070509 - Schinzel Giedion syndrome 5901112 rras2 DOID:3490 - Noonan syndrome 5901653 wnt7a DOID:0090067 - Fuhrmann syndrome|DOID:0112181 - Schinzel type phocomelia 5902234 dnaaf5 DOID:0050144 - Kartagener syndrome|DOID:0110604 - primary ciliary dyskinesia 18 5902542 bltp1 DOID:0111555 - Alkuraya-Kucinskas syndrome 5903638 pacs2 DOID:0080446 - developmental and epileptic encephalopathy 66 5903817 stac3 DOID:0060346 - Native American myopathy 5903933 cyp2a6 DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer 5903983 cyp2a6.3 DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer 5906944 ctsd DOID:0110725 - neuronal ceroid lipofuscinosis 10 5907113 tsen2 DOID:0060268 - pontocerebellar hypoplasia type 2B 5907770 gdi1 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0111814 - methylmalonic acidemia and homocysteinemia cblX type|DOID:0112058 - non-syndromic X-linked intellectual disability 41 5909077 alox12b DOID:0060710 - autosomal recessive congenital ichthyosis 2|DOID:1699 - congenital ichthyosiform erythroderma 5909148 tead1 DOID:0111228 - Sveinsson chorioretinal atrophy 5909176 cc2d2a DOID:0050778 - Meckel syndrome|DOID:0070120 - Meckel syndrome 6|DOID:0111004 - Joubert syndrome 9|DOID:0111589 - COACH syndrome 5909248 ift43 DOID:0050577 - cranioectodermal dysplasia|DOID:0080033 - craniometaphyseal dysplasia|DOID:0080292 - retinitis pigmentosa 81|DOID:0080293 - short-rib thoracic dysplasia 18 with polydactyly 5909319 arhgef2 DOID:0080312 - neurodevelopmental disorder with midbrain and hindbrain malformations 5910007 chuk DOID:0060647 - fetal encasement syndrome 5910074 gal.2 DOID:0060754 - familial temporal lobe epilepsy 8 5910088 hax1 DOID:0112133 - severe congenital neutropenia 3 5910167 nlrp3 DOID:0050854 - Muckle-Wells syndrome|DOID:0080270 - autosomal dominant nonsyndromic deafness 34|DOID:0090029 - CINCA Syndrome|DOID:0090061 - familial cold autoinflammatory syndrome|DOID:0090062 - familial cold autoinflammatory syndrome 1 5910253 pex11b DOID:0081274 - peroxisome biogenesis disorder 14B|DOID:905 - Zellweger syndrome 5910330 irf6.2 DOID:0050591 - tooth agenesis|DOID:0060055 - popliteal pterygium syndrome|DOID:0060239 - Van der Woude syndrome 5910468 cfap298 DOID:0050144 - Kartagener syndrome|DOID:0110627 - primary ciliary dyskinesia 26 5911792 mogs DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070254 - congenital disorder of glycosylation type IIb 5913742 stat5b DOID:0080836 - growth hormone insensitivity syndrome with immune dysregulation 1 5913943 myo1e.2 DOID:0111131 - focal segmental glomerulosclerosis 6 5914007 mbd5 DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0070031 - autosomal dominant intellectual developmental disorder 1 5914212 washc4 DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081207 - autosomal recessive intellectual developmental disorder 43 5914423 sema4a DOID:0050572 - cone-rod dystrophy|DOID:0110357 - retinitis pigmentosa 35|DOID:0111017 - cone-rod dystrophy 10|DOID:10584 - retinitis pigmentosa 5914495 pomp DOID:0060914 - proteosome-associated autoinflammatory syndrome 2 5914699 l1cam DOID:0060246 - MASA syndrome|DOID:10908 - hydrocephalus 5915506 dnajc13 DOID:0060892 - late onset Parkinson's disease 5915560 diablo DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110585 - autosomal dominant nonsyndromic deafness 64 5916204 vti1a DOID:0080135 - multiple mitochondrial dysfunctions syndrome 3 5917456 uqcc2 DOID:0080116 - mitochondrial complex III deficiency nuclear type 7|DOID:0111139 - mitochondrial complex III deficiency 5918040 pklr DOID:0111077 - pyruvate kinase deficiency of red cells 5918221 tfe3 DOID:4450 - renal cell carcinoma|DOID:4465 - papillary renal cell carcinoma 5918262 kcnj8 DOID:0060569 - hypertrichotic osteochondrodysplasia Cantu type 5918289 hmbs DOID:3890 - acute intermittent porphyria 5918475 gcgr DOID:9352 - type 2 diabetes mellitus 5918488 cat.1 DOID:2582 - acatalasia 5918717 usf1 DOID:13809 - familial combined hyperlipidemia 5918937 mllt11 DOID:0050458 - juvenile myelomonocytic leukemia 5918987 sqstm1 DOID:0080718 - GNE myopathy|DOID:0081363 - distal myopathy with rimmed vacuoles|DOID:0081364 - neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset|DOID:0081365 - Paget's disease of bone 2|DOID:0081366 - Paget's disease of bone 3|DOID:0110068 - frontotemporal dementia and/or amyotrophic lateral sclerosis-3|DOID:332 - amyotrophic lateral sclerosis|DOID:5408 - Paget's disease of bone 5919505 kcnj5 DOID:0050434 - Andersen-Tawil syndrome|DOID:0110644 - long QT syndrome 1|DOID:0110654 - long QT syndrome 13|DOID:446 - primary hyperaldosteronism 5921232 epg5 DOID:0060356 - Vici syndrome 5921461 kcnq1 DOID:0050650 - familial atrial fibrillation|DOID:0050793 - short QT syndrome|DOID:0110644 - long QT syndrome 1|DOID:2842 - Jervell-Lange Nielsen syndrome|DOID:5572 - Beckwith-Wiedemann syndrome 5922244 snrpe DOID:0110708 - hypotrichosis 11 5922805 ccnq DOID:0111931 - syndactyly-telecanthus-anogenital and renal malformations syndrome 5923006 add3 DOID:0081361 - spastic quadriplegic cerebral palsy 3|DOID:10970 - spastic quadriplegic cerebral palsy 5925392 aldob DOID:9869 - hereditary fructose intolerance syndrome 5929083 ada.2 DOID:0060010 - Omenn syndrome|DOID:5810 - adenosine deaminase deficiency 5929176 skic3 DOID:0111415 - trichohepatoenteric syndrome 1 5929457 KIAA0586 DOID:0050777 - Joubert syndrome|DOID:0110096 - short-rib thoracic dysplasia 14 with polydactyly|DOID:0110992 - Joubert syndrome 23 5930956 lct.1 DOID:0111646 - congenital lactase deficiency|DOID:10604 - lactose intolerance 5931109 hps5 DOID:0060539 - Hermansky-Pudlak syndrome 1|DOID:0060543 - Hermansky-Pudlak syndrome 5 5931147 trappc11 DOID:0050602 - triple-A syndrome|DOID:0110287 - autosomal recessive limb-girdle muscular dystrophy type 2S 5932066 chrna1.2 DOID:0080110 - contractures, pterygia, and spondylocarpotarsal fusion syndrome|DOID:0110662 - congenital myasthenic syndrome 1B|DOID:0110663 - congenital myasthenic syndrome 1A 5932309 kif4a DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112040 - non-syndromic X-linked intellectual disability 100 5932623 tsen34 DOID:0060269 - pontocerebellar hypoplasia type 2C 5933521 dctn1 DOID:0060193 - amyotrophic lateral sclerosis type 1|DOID:0060486 - Perry syndrome|DOID:0111202 - autosomal dominant distal hereditary motor neuronopathy 14 5933879 primpol DOID:11830 - myopia 5934130 alg11 DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080567 - congenital disorder of glycosylation Ip 5934500 kifbp DOID:0060481 - Goldberg-Shprintzen syndrome 5935910 trip11 DOID:0080054 - achondrogenesis type IA 5935961 lamb2 DOID:0060852 - Pierson syndrome 5936528 rgs9bpl DOID:0050335 - bradyopsia|DOID:0070363 - bradyopsia 1 5937735 specc1l DOID:0050780 - obsolete Opitz-GBBB syndrome|DOID:0080698 - Teebi hypertelorism syndrome 1|DOID:0111706 - oblique facial clefting 1 5938587 erbb2 DOID:0080764 - hereditary diffuse gastric cancer|DOID:10534 - stomach cancer|DOID:1324 - lung cancer|DOID:3070 - high grade glioma 5938650 mhc1-uaa DOID:0080603 - ankylosing spondylitis 1 5939805 tonsl DOID:5684 - spondyloepimetaphyseal dysplasia, Sponastrime type 5939930 znf674 DOID:0112032 - non-syndromic X-linked intellectual disability 92 5940570 cryaa DOID:0110266 - cataract 9 multiple types 5940578 fuca1 DOID:14500 - fucosidosis 5941074 rsph9 DOID:0050144 - Kartagener syndrome|DOID:0110601 - primary ciliary dyskinesia 12 5941220 cfp DOID:0111768 - X-linked properdin deficiency 5941572 hars2 DOID:0050857 - Perrault syndrome 5941646 slc29a3 DOID:0111278 - histiocytosis-lymphadenopathy plus syndrome 5942578 rfx5 DOID:5812 - MHC class II deficiency 5943020 stx16 DOID:0080222 - pseudohypoparathyroidism type IB|DOID:4184 - pseudohypoparathyroidism 5943044 tmem216 DOID:0050778 - Meckel syndrome|DOID:0060376 - Joubert syndrome with orofaciodigital defect|DOID:0070116 - Meckel syndrome 2|DOID:0110988 - Joubert syndrome 2 5943312 slc2a4 DOID:9352 - type 2 diabetes mellitus 5943783 fam20a DOID:0110066 - amelogenesis imperfecta type 1G 5943820 a2ml1 DOID:3490 - Noonan syndrome 5944560 slc25a20 DOID:0111585 - carnitine-acylcarnitine translocase deficiency 5945116 pigo DOID:0070434 - hyperphosphatasia with impaired intellectual development syndrome 2 5945263 cox6b1 DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease 5945699 rsph1 DOID:0050144 - Kartagener syndrome|DOID:0110628 - primary ciliary dyskinesia 24 5945764 obsl1 DOID:0060241 - 3-M syndrome 5947962 wrap53 DOID:0070019 - autosomal recessive dyskeratosis congenita 3|DOID:2729 - dyskeratosis congenita 5948802 jagn1 DOID:0112134 - severe congenital neutropenia 6 5949004 gabrg2 DOID:0060170 - generalized epilepsy with febrile seizures plus|DOID:0060171 - obsolete Dravet syndrome|DOID:0080422 - Dravet syndrome|DOID:0111298 - familial febrile seizures 8|DOID:0111302 - generalized epilepsy with febrile seizures plus 1|DOID:2481 - infantile epileptic encephalopathy|DOID:3329 - benign epilepsy with centrotemporal spikes 5949018 shroom4 DOID:0112126 - Stocco Dos Santos type X-linked intellectual disability 5950100 col4a2 DOID:0060263 - porencephaly|DOID:0112314 - brain small vessel disease 2 5950161 itga2b.2 DOID:0060691 - platelet-type bleeding disorder 16|DOID:2219 - Glanzmann's thrombasthenia 5952508 mars1 DOID:0110173 - Charcot-Marie-Tooth disease axonal type 2U 5952676 ca4.2 DOID:0110404 - retinitis pigmentosa 17|DOID:10584 - retinitis pigmentosa 5952826 ano5 DOID:0070201 - Miyoshi muscular dystrophy 3|DOID:0110284 - autosomal recessive limb-girdle muscular dystrophy type 2L|DOID:0111533 - gnathodiaphyseal dysplasia 5953133 rbbp8 DOID:0050569 - Seckel syndrome|DOID:0070013 - Seckel syndrome 2 5953275 cfi DOID:0050419 - complement factor I deficiency|DOID:0060745 - Doyne honeycomb retinal dystrophy|DOID:0110025 - age related macular degeneration 13 5953675 rps27 DOID:0111880 - Diamond-Blackfan anemia 17 5953696 scaper DOID:10584 - retinitis pigmentosa 5953720 chkb DOID:0110632 - megaconial type congenital muscular dystrophy 5953769 akap9 DOID:0110644 - long QT syndrome 1|DOID:0110652 - long QT syndrome 11 5953795 pnkp DOID:0050709 - early infantile epileptic encephalopathy|DOID:0080457 - microcephaly, seizures, and developmental delay|DOID:0081383 - ataxia-oculomotor apraxia type 4|DOID:2481 - infantile epileptic encephalopathy 5954540 myh8 DOID:0050471 - Carney complex|DOID:0050646 - distal arthrogryposis|DOID:0111603 - distal arthrogryposis type 7 5954566 col5a1 DOID:14720 - Ehlers-Danlos syndrome classic type 1 5954969 prkaca DOID:0060280 - primary pigmented nodular adrenocortical disease 5955288 esco2 DOID:0050536 - obsolete SC phocomelia syndrome|DOID:5325 - Roberts syndrome 5955924 fmn2 DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081211 - autosomal recessive intellectual developmental disorder 47 5955935 rgs9 DOID:0050335 - bradyopsia|DOID:0070363 - bradyopsia 1 5956641 syne1 DOID:0070249 - autosomal dominant Emery-Dreifuss muscular dystrophy 4|DOID:0111618 - autosomal recessive spinocerebellar ataxia 8 5957240 clcn5 DOID:0050445 - X-linked dominant hypophosphatemic rickets|DOID:0050699 - Dent disease|DOID:0111798 - X-linked nephrolithiasis type I|DOID:0111815 - low molecular weight proteinuria with hypercalciuric nephrocalcinosis 5957306 gnptab DOID:0080070 - mucolipidosis II alpha/beta|DOID:0080071 - mucolipidosis III alpha/beta 5957472 tbc1d24.2 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0080449 - developmental and epileptic encephalopathy 16|DOID:0110532 - autosomal recessive nonsyndromic deafness 86|DOID:0110586 - autosomal dominant nonsyndromic deafness 65|DOID:0111627 - DOORS syndrome 5958093 dis3l2 DOID:0060476 - Perlman syndrome 5958699 mkrn3 DOID:0112309 - central precocious puberty 2|DOID:11983 - Prader-Willi syndrome 5959315 phactr1 DOID:0050562 - West syndrome 5959462 arsa.1 DOID:10581 - metachromatic leukodystrophy 5960303 odad4 DOID:0050144 - Kartagener syndrome|DOID:0110620 - primary ciliary dyskinesia 35 5960334 fermt1 DOID:0060472 - Kindler syndrome 5960545 cyp2a6.6 DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer 5961451 c6.1 DOID:0060299 - complement component 6 deficiency 5961868 ndufa13 DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1|DOID:8161 - thyroid gland Hurthle cell carcinoma 5961969 slc5a2 DOID:9432 - renal glycosuria 5961993 krt12.1 DOID:0060451 - Meesmann corneal dystrophy|DOID:0080670 - Meesmann corneal dystrophy 1 5962007 chchd10 DOID:0060214 - frontotemporal dementia and/or amyotrophic lateral sclerosis-2|DOID:0081356 - spinal muscular atrophy, Jokela type|DOID:0081357 - isolated mitochondrial myopathy|DOID:332 - amyotrophic lateral sclerosis 5962105 stx1b DOID:0060170 - generalized epilepsy with febrile seizures plus|DOID:0111301 - generalized epilepsy with febrile seizures plus 9 5962522 bbs12 DOID:0110123 - Bardet-Biedl syndrome 1|DOID:0110134 - Bardet-Biedl syndrome 12|DOID:1935 - Bardet-Biedl syndrome 5962553 fancg DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111086 - Fanconi anemia complementation group G|DOID:13636 - Fanconi anemia 5963240 cd40 DOID:0060023 - immunodeficiency with hyper IgM type 3 5965355 greb1l DOID:0080200 - bilateral renal aplasia 5965442 ripor2 DOID:0050565 - autosomal recessive nonsyndromic deafness 5965650 tex14 DOID:0070181 - spermatogenic failure 23 5966550 thra DOID:0070128 - congenital nongoitrous hypothryoidism 6 5966956 acsl4 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112050 - non-syndromic X-linked intellectual disability 63 5967063 drc1 DOID:0050144 - Kartagener syndrome|DOID:0110596 - primary ciliary dyskinesia 21 5967538 col25a1.2 DOID:0060261 - congenital ptosis|DOID:0081020 - congenital fibrosis of the extraocular muscles 5|DOID:12557 - Duane retraction syndrome 5969094 oat DOID:1415 - gyrate atrophy 5969670 anks6 DOID:0111112 - nephronophthisis 1|DOID:0111124 - nephronophthisis 16 5969736 cisd2 DOID:0110630 - Wolfram syndrome 2|DOID:10632 - Wolfram syndrome 5969936 phka1 DOID:0111040 - glycogen storage disease IXd 5992932 nsd3 DOID:9119 - acute myeloid leukemia 5993002 kcnt1 DOID:0050709 - early infantile epileptic encephalopathy|DOID:0060681 - autosomal dominant nocturnal frontal lobe epilepsy|DOID:0060686 - autosomal dominant nocturnal frontal lobe epilepsy 5|DOID:0080439 - developmental and epileptic encephalopathy 14 5994597 chrna4 DOID:0060681 - autosomal dominant nocturnal frontal lobe epilepsy|DOID:0060682 - autosomal dominant nocturnal frontal lobe epilepsy 1 5995151 smad10 DOID:0050787 - juvenile polyposis syndrome|DOID:0111543 - juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome|DOID:1270 - hereditary hemorrhagic telangiectasia|DOID:4905 - pancreatic carcinoma 5995329 diaph1 DOID:0110541 - autosomal dominant nonsyndromic deafness 1 5995516 gatad2b DOID:0070048 - GAND syndrome 5996132 irf7 DOID:0111969 - immunodeficiency 39 5998209 plekhg4 DOID:0050957 - spinocerebellar ataxia type 4|DOID:0050980 - spinocerebellar ataxia type 31 5998665 stk36 DOID:0050144 - Kartagener syndrome 5999892 pde11a DOID:0060280 - primary pigmented nodular adrenocortical disease 6000360 dmbt1 DOID:0050902 - medulloblastoma|DOID:3070 - high grade glioma 6030742 gabrb3 DOID:0050561 - Lennox-Gastaut syndrome|DOID:1825 - childhood absence epilepsy|DOID:1826 - epilepsy 6030767 naglu DOID:0110178 - Charcot-Marie-Tooth disease axonal type 2V|DOID:0111394 - mucopolysaccharidosis type IIIB|DOID:12801 - mucopolysaccharidosis III 6031007 tmem132e DOID:0050565 - autosomal recessive nonsyndromic deafness 6031017 inpp5el DOID:0110980 - Joubert syndrome 1 6031033 pde6h DOID:0050795 - cone dystrophy|DOID:0081025 - retinal cone dystrophy 3A|DOID:13911 - achromatopsia 6031109 tet2 DOID:0050908 - myelodysplastic syndrome|DOID:4797 - SM-AHNMD|DOID:4971 - myelofibrosis|DOID:8997 - polycythemia vera 6031140 prrt2 DOID:0060169 - benign familial infantile epilepsy|DOID:0081115 - benign familial infantile seizures 2|DOID:0090045 - childhood onset GLUT1 deficiency syndrome 2|DOID:0090049 - paroxysmal nonkinesigenic dyskinesia 1|DOID:0090053 - episodic kinesigenic dyskinesia 1 6031645 steap3 DOID:0050642 - hypochromic microcytic anemia 6031690 cacna1b DOID:0090051 - dystonia 23 6031728 ndufaf2 DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1|DOID:3652 - Leigh disease 6031745 ttn DOID:0081341 - congenital myopathy 5|DOID:0110283 - autosomal recessive limb-girdle muscular dystrophy type 2J|DOID:0110315 - hypertrophic cardiomyopathy 9|DOID:0110430 - dilated cardiomyopathy 1G|DOID:0111078 - tibial muscular dystrophy|DOID:0111188 - myofibrillar myopathy 9 6032475 col5a2 DOID:14720 - Ehlers-Danlos syndrome classic type 1 6032644 myo3a DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110489 - autosomal recessive nonsyndromic deafness 30 6032684 rp1 DOID:0110390 - retinitis pigmentosa 1|DOID:10584 - retinitis pigmentosa|DOID:1172 - hyperlipoproteinemia type IV 6032790 slc52a3 DOID:0050694 - Brown-Vialetto-Van Laere syndrome|DOID:0080632 - Fazio-Londe disease|DOID:0080785 - Brown-Vialetto-Van Laere syndrome 1 6033183 tmem240 DOID:0050972 - spinocerebellar ataxia type 21 6033337 gabra1 DOID:4890 - juvenile myoclonic epilepsy 6033403 mymk DOID:0080194 - Carey-Fineman-Ziter syndrome 6033421 aloxe3 DOID:0060710 - autosomal recessive congenital ichthyosis 2|DOID:0060711 - autosomal recessive congenital ichthyosis 3|DOID:1699 - congenital ichthyosiform erythroderma 6033577 pde3a DOID:0111247 - hypertension and brachydactyly syndrome 6033728 plekhm1 DOID:0110945 - autosomal recessive osteopetrosis 6 6033759 colq DOID:0110667 - congenital myasthenic syndrome 5 6034035 spg7 DOID:0110816 - hereditary spastic paraplegia 7|DOID:230 - lateral sclerosis 6034567 col4a6 DOID:0050566 - X-linked nonsyndromic deafness|DOID:0111740 - X-linked deafness 6 6034695 atp1a2 DOID:0050635 - alternating hemiplegia of childhood|DOID:0060178 - familial hemiplegic migraine|DOID:14452 - hypokalemic periodic paralysis 6034869 ap5z1 DOID:0110800 - hereditary spastic paraplegia 48 6034942 mettl23 DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081208 - autosomal recessive intellectual developmental disorder 44 6034961 kif7 DOID:0050779 - hydrolethalus syndrome|DOID:0060376 - Joubert syndrome with orofaciodigital defect|DOID:0111356 - hydrolethalus syndrome 2|DOID:9250 - acrocallosal syndrome 6035279 cerkl DOID:0110368 - retinitis pigmentosa 26|DOID:10584 - retinitis pigmentosa 6035308 p2rx1 DOID:0060692 - platelet-type bleeding disorder 8 6035340 rmnd1 DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111481 - combined oxidative phosphorylation deficiency 11 6035410 kctd17 DOID:0090033 - myoclonic dystonia|DOID:0090036 - myoclonic dystonia 26 6035450 traf3ip2 DOID:0111287 - psoriasis 13|DOID:2058 - chronic mucocutaneous candidiasis 6035541 cngb3 DOID:0050795 - cone dystrophy|DOID:0050817 - Stargardt disease|DOID:0110008 - achromatopsia 3|DOID:13911 - achromatopsia 6035626 ash1l DOID:0080231 - autosomal dominant intellectual developmental disorder 52 6035709 cep164 DOID:0050576 - Senior-Loken syndrome|DOID:0111123 - nephronophthisis 15 6035761 iqsec2 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112038 - non-syndromic X-linked intellectual disability 1 6035797 glra1 DOID:0060695 - hyperekplexia|DOID:0060696 - hyperekplexia 1 6035929 rtel1 DOID:0070020 - autosomal dominant dyskeratosis congenita 4|DOID:0070022 - autosomal recessive dyskeratosis congenita 5|DOID:2729 - dyskeratosis congenita 6036031 atp8a2 DOID:0050997 - cerebellar ataxia, mental retardation and dysequlibrium syndrome 6036049 rbfox1 DOID:1682 - congenital heart disease|DOID:9955 - hypoplastic left heart syndrome 6036055 srcap DOID:0111358 - Floating-Harbor syndrome 6036139 alg9 DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080564 - congenital disorder of glycosylation Il 6036228 kras DOID:0050458 - juvenile myelomonocytic leukemia|DOID:0050469 - Costello syndrome|DOID:0060233 - cardiofaciocutaneous syndrome|DOID:0060581 - Noonan syndrome 3|DOID:0060688 - arteriovenous malformations of the brain|DOID:0080764 - hereditary diffuse gastric cancer|DOID:0110117 - autoimmune lymphoproliferative syndrome type 4|DOID:0111461 - cardiofaciocutaneous syndrome 2|DOID:0111530 - linear nevus sebaceous syndrome|DOID:10534 - stomach cancer|DOID:11054 - urinary bladder cancer|DOID:1324 - lung cancer|DOID:1612 - breast cancer|DOID:3490 - Noonan syndrome|DOID:4845 - pilomyxoid astrocytoma|DOID:4905 - pancreatic carcinoma|DOID:9119 - acute myeloid leukemia 6037400 kcna5 DOID:0050650 - familial atrial fibrillation 6037406 scn5a DOID:0050451 - Brugada syndrome|DOID:0050650 - familial atrial fibrillation|DOID:0110218 - Brugada syndrome 1|DOID:0110433 - dilated cardiomyopathy 1E|DOID:0110644 - long QT syndrome 1|DOID:0110646 - long QT syndrome 3|DOID:0111073 - progressive familial heart block|DOID:0111074 - progressive familial heart block type IA|DOID:13884 - sick sinus syndrome|DOID:9007 - sudden infant death syndrome 6037471 dok7 DOID:0110668 - congenital myasthenic syndrome 10|DOID:0111377 - fetal akinesia deformation sequence syndrome 1 6037488 s1pr2 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110519 - autosomal recessive nonsyndromic deafness 68 6037553 trpm3 DOID:0060307 - autosomal dominant intellectual developmental disorder 6037688 gpc6 DOID:0060288 - omodysplasia|DOID:0080844 - omodysplasia 1 6038557 msrb3 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110523 - autosomal recessive nonsyndromic deafness 74 6038612 sardh DOID:0112307 - sarcosinemia 6038809 nbeal2 DOID:0111044 - gray platelet syndrome 6038834 adamts13 DOID:10772 - thrombotic thrombocytopenic purpura 6039486 plekhg5 DOID:0110198 - Charcot-Marie-Tooth disease recessive intermediate C|DOID:0111213 - autosomal recessive distal hereditary motor neuronopathy 4 6040102 pclo DOID:0060272 - pontocerebellar hypoplasia type 3 6040278 cdk13 DOID:0112247 - congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 6041029 adh1c DOID:0050741 - alcohol dependence|DOID:0060892 - late onset Parkinson's disease|DOID:14330 - Parkinson's disease 6041251 cox20 DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease 6041330 frmd7 DOID:0111790 - congenital nystagmus 1 6041437 pjvk DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110511 - autosomal recessive nonsyndromic deafness 59 6041520 znf81 DOID:0050776 - non-syndromic X-linked intellectual disability 6041737 serac1 DOID:0110001 - 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 6041757 szt2 DOID:0050709 - early infantile epileptic encephalopathy|DOID:0080413 - developmental and epileptic encephalopathy 18 6041761 vwa3b DOID:0111614 - autosomal recessive spinocerebellar ataxia 22 6041815 rfwd3 DOID:13636 - Fanconi anemia 6041836 adgrg1 DOID:0080922 - bilateral frontoparietal polymicrogyria|DOID:0080924 - bilateral perisylvian polymicrogyria 6041868 col4a5 DOID:0110034 - X-linked Alport syndrome 6041910 nexmif DOID:0050776 - non-syndromic X-linked intellectual disability 6041942 abca12 DOID:0060712 - autosomal recessive congenital ichthyosis 4A|DOID:0060713 - autosomal recessive congenital ichthyosis 4B|DOID:1699 - congenital ichthyosiform erythroderma 6041968 arfgef2 DOID:0050454 - periventricular nodular heterotopia 6042120 cacna1h DOID:1825 - childhood absence epilepsy 6042489 grxcr1 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110483 - autosomal recessive nonsyndromic deafness 25 6043632 camta1 DOID:0050998 - nonprogressive cerebellar ataxia with mental retardation 6043717 p2rx2 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110567 - autosomal dominant nonsyndromic deafness 41 6043822 vps13c DOID:0060894 - early-onset Parkinson's disease|DOID:0060896 - autosomal recessive early-onset Parksinson disease 23 6043872 dcaf17 DOID:0112264 - Woodhouse-Sakati syndrome 6043878 fat2 DOID:0080287 - spinocerebellar ataxia 45 6043902 tex11 DOID:0070185 - X-linked spermatogenic failure 2 6044144 ankrd26 DOID:1588 - thrombocytopenia 6044384 mtmr2 DOID:0110191 - Charcot-Marie-Tooth disease type 4B1 6044421 map1b DOID:0050454 - periventricular nodular heterotopia 6044513 muc5b DOID:0050156 - idiopathic pulmonary fibrosis 6044680 atp7b DOID:893 - Wilson disease 6044812 clrn1 DOID:0110373 - retinitis pigmentosa 61|DOID:0110828 - Usher syndrome type 3|DOID:0110841 - Usher syndrome type 3A|DOID:10584 - retinitis pigmentosa 6044837 flna DOID:0050454 - periventricular nodular heterotopia|DOID:0080681 - X-linked chronic idiopathic intestinal pseudo-obstruction|DOID:0111765 - X-linked cardiac valvular dysplasia|DOID:0111783 - otopalatodigital syndrome type 1|DOID:0111784 - otopalatodigital syndrome type 2|DOID:0111786 - frontometaphyseal dysplasia 1|DOID:0111788 - Melnick-Needles syndrome|DOID:0112149 - terminal osseous dysplasia|DOID:14711 - FG syndrome 6045054 kcne2 DOID:0050650 - familial atrial fibrillation|DOID:0110644 - long QT syndrome 1|DOID:0110648 - long QT syndrome 6 6045467 lrrc56 DOID:0050144 - Kartagener syndrome 6045752 plcb1 DOID:0050562 - West syndrome|DOID:0050709 - early infantile epileptic encephalopathy|DOID:0080459 - developmental and epileptic encephalopathy 12|DOID:2481 - infantile epileptic encephalopathy 6045768 med13l DOID:0060770 - dextro-looped transposition of the great arteries|DOID:0060771 - obsolete dextro-looped transposition of the great arteries 1 6045811 ehbp1 DOID:10283 - prostate cancer 6046061 itgam DOID:9074 - systemic lupus erythematosus 6046088 vars2 DOID:0111478 - combined oxidative phosphorylation deficiency 20 6046301 tpm3 DOID:0080102 - congenital myopathy 4A|DOID:0110926 - nemaline myopathy 1|DOID:0110927 - nemaline myopathy 3 6046732 adgre2 DOID:1554 - vibratory urticaria 6046830 padi4 DOID:7148 - rheumatoid arthritis 6046858 gipc3 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110470 - autosomal recessive nonsyndromic deafness 15 6046916 notch2 DOID:2736 - Hajdu-Cheney syndrome|DOID:9245 - Alagille syndrome 6047254 fig4 DOID:0060202 - amyotrophic lateral sclerosis type 11|DOID:0060589 - Yunis-Varon syndrome|DOID:0080923 - bilateral parasagittal parieto-occipital polymicrogyria|DOID:0110184 - Charcot-Marie-Tooth disease type 4J|DOID:332 - amyotrophic lateral sclerosis 6047372 kcnq2 DOID:0060169 - benign familial infantile epilepsy|DOID:0080462 - developmental and epileptic encephalopathy 7|DOID:14264 - benign neonatal seizures 6047392 adamtsl2 DOID:0111725 - geleophysic dysplasia 1 6047410 duox2 DOID:0112189 - thyroid dyshormonogenesis 6 6047449 cyp11b2 DOID:0080626 - corticosterone methyloxidase deficiency 1 6047483 cfap44 DOID:0070166 - spermatogenic failure 20 6047526 klhl10 DOID:0070180 - spermatogenic failure 11|DOID:14227 - azoospermia 6047569 myorg DOID:0060230 - basal ganglia calcification 6047578 pts DOID:0090106 - BH4-deficient hyperphenylalaninemia A 6047949 ttc21b DOID:0050592 - asphyxiating thoracic dystrophy|DOID:0110088 - asphyxiating thoracic dystrophy 4|DOID:0110980 - Joubert syndrome 1|DOID:0111119 - nephronophthisis 12|DOID:0111124 - nephronophthisis 16 6048227 col9a1 DOID:12721 - multiple epiphyseal dysplasia 6048313 slc9a6 DOID:0060825 - Christianson syndrome 6048376 myh7b DOID:0060480 - left ventricular noncompaction 6049109 gabrb1 DOID:0080428 - developmental and epileptic encephalopathy 45 6049176 arsl DOID:0060292 - X-linked chondrodysplasia punctata 1 6049377 slc39a4 DOID:0050605 - acrodermatitis enteropathica 6049396 dchs1 DOID:0060238 - Van Maldergem syndrome|DOID:988 - mitral valve prolapse 6049480 pex6 DOID:0080624 - Heimler syndrome 2|DOID:905 - Zellweger syndrome 6049694 clcnkb DOID:0050450 - Gitelman syndrome|DOID:0110144 - Bartter disease type 3|DOID:0110145 - Bartter disease type 4a|DOID:0110146 - Bartter disease type 4b 6049718 tfr2 DOID:0111030 - hemochromatosis type 3 6049795 pdzd7 DOID:0110838 - Usher syndrome type 2A|DOID:0110839 - Usher syndrome type 2C|DOID:0111635 - autosomal recessive nonsyndromic deafness 57 6050068 grik2 DOID:0060308 - autosomal recessive intellectual developmental disorder|DOID:0081182 - autosomal recessive intellectual developmental disorder 6 6050195 otulin DOID:0080163 - otulipenia 6050251 piezo1 DOID:0111576 - dehydrated hereditary stomatocytosis 1 6050307 frmpd4 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0112018 - non-syndromic X-linked intellectual disability 104 6050594 dync2i1 DOID:0050592 - asphyxiating thoracic dystrophy|DOID:0110094 - short-rib thoracic dysplasia 8 with or without polydactyly 6050615 grxcr2 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110462 - autosomal recessive nonsyndromic deafness 101 6050659 ltbp3 DOID:0090143 - brachyolmia-amelogenesis imperfecta syndrome|DOID:0111727 - geleophysic dysplasia 3 6050977 tspear DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110540 - autosomal recessive nonsyndromic deafness 98 6051084 prss56 DOID:0060835 - isolated microphthalmia 6 6051118 hepacam DOID:0060867 - macrocephaly-autism syndrome|DOID:0080315 - megalencephalic leukoencephalopathy with subcortical cysts|DOID:0080316 - megalencephalic leukoencephalopathy with subcortical cysts 1|DOID:0080317 - megalencephalic leukoencephalopathy with subcortical cysts 2B|DOID:0080318 - megalencephalic leukoencephalopathy with subcortical cysts 2A 6052257 knl1 DOID:10907 - microcephaly 6052299 aggf1 DOID:2926 - Klippel-Trenaunay syndrome 6052363 ubr1 DOID:14694 - Johanson-Blizzard syndrome 6052388 rnf213 DOID:13099 - Moyamoya disease 6052813 myc DOID:8584 - Burkitt lymphoma 6053270 maf DOID:0110235 - cataract 2 multiple types|DOID:0110256 - cataract 21 multiple types|DOID:0111688 - Ayme-Gripp syndrome 6053329 raf1 DOID:0060583 - Noonan syndrome 5|DOID:0080549 - Noonan syndrome with multiple lentigines 2|DOID:0110432 - dilated cardiomyopathy 1NN|DOID:14291 - Noonan syndrome with multiple lentigines|DOID:3490 - Noonan syndrome 6054020 lck DOID:0111937 - immunodeficiency 22 6054130 gaa DOID:2752 - glycogen storage disease II 6054433 bptf DOID:0070514 - neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 6054494 ptpn11 DOID:0050458 - juvenile myelomonocytic leukemia|DOID:0060578 - Noonan syndrome 1|DOID:0111512 - metachondromatosis|DOID:14291 - Noonan syndrome with multiple lentigines|DOID:3490 - Noonan syndrome 6054674 abl1 DOID:8552 - chronic myeloid leukemia 6065246 casr DOID:0060700 - familial hypocalciuric hypercalcemia 1|DOID:0090107 - autosomal dominant hypocalcemia 1|DOID:0090109 - autosomal dominant hypocalcemia|DOID:0111387 - familial isolated hypoparathyroidism|DOID:11199 - hypoparathyroidism 6065253 prss2 DOID:4989 - pancreatitis 6065291 rtn4r DOID:5419 - schizophrenia 6067151 egfr DOID:1324 - lung cancer 6067220 pik3r1 DOID:0081139 - agammaglobulinemia 7|DOID:0111454 - SHORT syndrome|DOID:0111949 - immunodeficiency 36|DOID:2583 - agammaglobulinemia 6070187 cntn2 DOID:0111691 - familial adult myoclonic epilepsy 5 6070708 thrb DOID:0111374 - selective pituitary thyroid hormone resistance|DOID:11633 - thyroid hormone resistance syndrome 6070949 arid2 DOID:1925 - Coffin-Siris syndrome 6071043 trip12 DOID:0080234 - Clark-Baraitser syndrome 6071380 tpm2 DOID:0050646 - distal arthrogryposis|DOID:0080102 - congenital myopathy 4A|DOID:0110927 - nemaline myopathy 3|DOID:0110932 - nemaline myopathy 4|DOID:0111597 - distal arthrogryposis type 1A|DOID:0111600 - distal arthrogryposis type 2B1 6072919 pdgfra DOID:9253 - gastrointestinal stromal tumor 6073494 tg DOID:0112187 - thyroid dyshormonogenesis 3 6073779 samd12 DOID:0111690 - familial adult myoclonic epilepsy 1 6073788 hars1 DOID:0110842 - Usher syndrome type 3B 6074534 abcc9 DOID:0050451 - Brugada syndrome|DOID:0050650 - familial atrial fibrillation|DOID:0060569 - hypertrichotic osteochondrodysplasia Cantu type|DOID:0110451 - dilated cardiomyopathy 1O 6074544 gjb4 DOID:0050467 - erythrokeratodermia variabilis 6074555 casq2 DOID:0060674 - catecholaminergic polymorphic ventricular tachycardia|DOID:0060675 - catecholaminergic polymorphic ventricular tachycardia 1|DOID:0060676 - catecholaminergic polymorphic ventricular tachycardia 2 6074602 cabp4 DOID:0050534 - congenital stationary night blindness|DOID:0060681 - autosomal dominant nocturnal frontal lobe epilepsy 6074616 ubb DOID:0110213 - isolated cleft palate 6076049 kctd1 DOID:0111550 - scalp-ear-nipple syndrome 6076140 kat6a DOID:0070062 - Arboleda-Tham syndrome 6076379 gnb1 DOID:0070072 - autosomal dominant intellectual developmental disorder 42|DOID:9952 - acute lymphoblastic leukemia 6076449 dysf DOID:0110276 - autosomal recessive limb-girdle muscular dystrophy type 2B|DOID:0111187 - distal myopathy with anterior tibial onset|DOID:11720 - distal myopathy 6076512 lrit3 DOID:0050534 - congenital stationary night blindness|DOID:0110864 - congenital stationary night blindness 1F 6076867 sh2d1a DOID:0060705 - X-linked lymphoproliferative syndrome 1 6076922 hcfc1 DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0111814 - methylmalonic acidemia and homocysteinemia cblX type 6076959 card11 DOID:0111957 - immunodeficiency 11A|DOID:0111958 - immunodeficiency 11B 6077305 ccnd1 DOID:0050746 - mantle cell lymphoma|DOID:1040 - chronic lymphocytic leukemia|DOID:14175 - von Hippel-Lindau disease|DOID:9538 - multiple myeloma 6083457 xrcc2 DOID:13636 - Fanconi anemia 6083468 prss1.2 DOID:4989 - pancreatitis 6084256 sco1 DOID:0050713 - COX deficiency, infantile mitochondrial myopathy|DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease 6084576 kcnj11 DOID:0050524 - maturity-onset diabetes of the young|DOID:0060334 - transient neonatal diabetes mellitus|DOID:0060639 - permanent neonatal diabetes mellitus|DOID:0070218 - familial hyperinsulinemic hypoglycemia 2|DOID:0111110 - maturity-onset diabetes of the young type 13|DOID:13317 - hyperinsulinemic hypoglycemia|DOID:9352 - type 2 diabetes mellitus 6085074 rasa1 DOID:2513 - basal cell carcinoma 6085117 col6a2 DOID:0050558 - Ullrich congenital muscular dystrophy|DOID:0050663 - Bethlem myopathy 6085195 cog4 DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070262 - congenital disorder of glycosylation type IIj|DOID:0111673 - Saul-Wilson syndrome 6085682 rnf113a DOID:0111868 - nonphotosensitive trichothiodystrophy 5 6085730 serpind1 DOID:0111901 - heparin cofactor II deficiency 6085853 clcn1 DOID:0081336 - Thomsen disease|DOID:2106 - myotonia congenita 6085858 mafb DOID:0111534 - multicentric carpotarsal osteolysis syndrome|DOID:12557 - Duane retraction syndrome 6085897 nras DOID:0050458 - juvenile myelomonocytic leukemia|DOID:0060584 - Noonan syndrome 6|DOID:0110117 - autoimmune lymphoproliferative syndrome type 4|DOID:0111162 - epidermal nevus|DOID:0111359 - large congenital melanocytic nevus|DOID:0111530 - linear nevus sebaceous syndrome|DOID:3490 - Noonan syndrome|DOID:3962 - thyroid gland follicular carcinoma|DOID:9256 - colorectal cancer 6087117 rag1 DOID:0060010 - Omenn syndrome|DOID:0090013 - severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive|DOID:0112253 - combined cellular and humoral immune defects with granulomas 6096144 pdgfrb DOID:0060230 - basal ganglia calcification|DOID:0080109 - infantile myofibromatosis|DOID:0111344 - myeloproliferative disorder with eosinophilia 6250445 large1 DOID:0050560 - Walker-Warburg syndrome|DOID:0110637 - muscular dystrophy-dystroglycanopathy type B6 6250836 rbm8a DOID:14699 - thrombocytopenia-absent radius syndrome 6251327 aars2 DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0070396 - progressive leukoencephalopathy with ovarian failure|DOID:0111479 - combined oxidative phosphorylation deficiency 8 6257418 tbx6 DOID:0050568 - spondylocostal dysostosis|DOID:0112363 - spondylocostal dysostosis 5 6257495 mpdu1 DOID:0050570 - congenital disorder of glycosylation type I|DOID:0080558 - congenital disorder of glycosylation If 6257537 frrs1l DOID:0060308 - autosomal recessive intellectual developmental disorder 6257669 pogz DOID:0070067 - White-Sutton syndrome 6257735 lrtomt DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110515 - autosomal recessive nonsyndromic deafness 63 6257827 KIAA1549 DOID:10584 - retinitis pigmentosa 6257977 nup62 DOID:4751 - striatonigral degeneration 6258052 mad1l1 DOID:10283 - prostate cancer 6258063 npc2 DOID:0070114 - Niemann-Pick disease type C2 6258113 dnaaf3 DOID:0050144 - Kartagener syndrome|DOID:0110626 - primary ciliary dyskinesia 2 6258120 ttc19 DOID:0060351 - mitochondrial complex III deficiency nuclear type 2|DOID:0111139 - mitochondrial complex III deficiency 6258150 ada2 DOID:13096 - Sneddon syndrome|DOID:1339 - Diamond-Blackfan anemia 6258172 hmga2 DOID:13223 - uterine fibroid 6258196 rps14 DOID:0090016 - chromosome 5q deletion syndrome 6258208 max DOID:0050771 - pheochromocytoma 6258220 wdr81 DOID:0050997 - cerebellar ataxia, mental retardation and dysequlibrium syndrome 6258278 KIAA0319 DOID:4428 - dyslexia 6258281 ighmbp2 DOID:0110171 - Charcot-Marie-Tooth disease axonal type 2S|DOID:0111064 - autosomal recessive distal hereditary motor neuronopathy 1 6258322 tsg101 DOID:1612 - breast cancer 6258352 col2a1 DOID:0080026 - otospondylomegaepiphyseal dysplasia, autosomal recessive|DOID:0080028 - spondyloepimetaphyseal dysplasia, Strudwick type|DOID:0080044 - hypochondrogenesis|DOID:0080045 - Kniest dysplasia|DOID:0080046 - Stickler syndrome|DOID:0080056 - achondrogenesis type II|DOID:0080676 - Stickler syndrome 1|DOID:0111348 - multiple epiphyseal dysplasia with myopia and deafness|DOID:0111508 - Torrance type platyspondylic dysplasia|DOID:0112195 - spondyloperipheral dysplasia|DOID:0112281 - spondyloepiphyseal dysplasia Stanescu type|DOID:14415 - Legg-Calve-Perthes disease|DOID:14789 - spondyloepiphyseal dysplasia congenita 6258369 sgca DOID:0110278 - autosomal recessive limb-girdle muscular dystrophy type 2D 6258378 col1a1 DOID:0080727 - Ehlers-Danlos syndrome arthrochalasia type 1|DOID:0110334 - osteogenesis imperfecta type 1|DOID:0110339 - osteogenesis imperfecta type 3|DOID:0110340 - osteogenesis imperfecta type 4|DOID:0110341 - osteogenesis imperfecta type 2|DOID:11476 - osteoporosis|DOID:14720 - Ehlers-Danlos syndrome classic type 1|DOID:4257 - Caffey disease 6258399 adat3 DOID:0081099 - neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies 6258405 pacs1 DOID:0070047 - Schuurs-Hoeijmakers Syndrome 6258437 lpar6 DOID:0110705 - hypotrichosis 8 6258451 cbl DOID:0050458 - juvenile myelomonocytic leukemia 6258531 myoc DOID:1067 - open-angle glaucoma|DOID:1068 - juvenile glaucoma 6258536 ewsr1 DOID:3369 - Ewing sarcoma 6258571 hmcn1 DOID:0110014 - age related macular degeneration 1 6258602 diaph2 DOID:0080858 - primary ovarian insufficiency 2A|DOID:5426 - primary ovarian insufficiency 6258656 gnat2 DOID:0050795 - cone dystrophy|DOID:0110010 - achromatopsia 4|DOID:13911 - achromatopsia 6258722 crebbp DOID:1933 - Rubinstein-Taybi syndrome 6258732 grap DOID:0050565 - autosomal recessive nonsyndromic deafness 6258789 angptl3 DOID:0111061 - familial hypobetalipoproteinemia 2 6258822 calr3 DOID:0110307 - hypertrophic cardiomyopathy 1|DOID:0110325 - hypertrophic cardiomyopathy 19 6258828 coa7 DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease 6258853 vapb DOID:0050752 - amyotrophic lateral sclerosis type 8|DOID:0111194 - autosomal dominant adult-onset proximal spinal muscular atrophy|DOID:332 - amyotrophic lateral sclerosis 6258901 wac DOID:0081126 - DeSanto-Shinawi syndrome 6259083 numa1 DOID:0060318 - acute promyelocytic leukemia 6259094 tufm DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111494 - combined oxidative phosphorylation deficiency 4 6259138 hmx1 DOID:0060482 - oculoauricular syndrome 6408099 mllt10 DOID:9119 - acute myeloid leukemia 6447551 scn2a DOID:0050562 - West syndrome|DOID:0050709 - early infantile epileptic encephalopathy|DOID:0060169 - benign familial infantile epilepsy|DOID:0060170 - generalized epilepsy with febrile seizures plus|DOID:0080421 - developmental and epileptic encephalopathy 11|DOID:0081116 - benign familial infantile seizures 3|DOID:0111302 - generalized epilepsy with febrile seizures plus 1 6449529 chrnb1 DOID:0110663 - congenital myasthenic syndrome 1A|DOID:0110679 - congenital myasthenic syndrome 4C|DOID:0110680 - congenital myasthenic syndrome 2C|DOID:0110681 - congenital myasthenic syndrome 2A 6449551 coro1a DOID:0060019 - coronin-1A deficiency 6449730 syn1 DOID:0112122 - X-linked epilepsy with variable learning disabilities and behavior disorders 6449943 pcnt DOID:0060609 - microcephalic osteodysplastic primordial dwarfism type II 6450007 notch3 DOID:0080109 - infantile myofibromatosis|DOID:0111035 - CADASIL 1|DOID:0111343 - lateral meningocele syndrome|DOID:13945 - CADASIL 6451171 kiss1 DOID:0090070 - hypogonadotropic hypogonadism|DOID:0090073 - hypogonadotropic hypogonadism 13 with or without anosmia 6451229 btk DOID:0060875 - isolated growth hormone deficiency type III|DOID:14179 - X-linked agammaglobulinemia 6451332 tert DOID:0050156 - idiopathic pulmonary fibrosis|DOID:0070014 - autosomal dominant dyskeratosis congenita 1|DOID:0070016 - autosomal dominant dyskeratosis congenita 2|DOID:0070021 - autosomal recessive dyskeratosis congenita 4|DOID:12449 - aplastic anemia|DOID:2729 - dyskeratosis congenita|DOID:9119 - acute myeloid leukemia 6451484 col4a1 DOID:0050560 - Walker-Warburg syndrome|DOID:0060263 - porencephaly|DOID:0090125 - brain small vessel disease 1|DOID:0111547 - retinal arterial tortuosity 6453026 slc22a18 DOID:1324 - lung cancer|DOID:1612 - breast cancer|DOID:3246 - embryonal rhabdomyosarcoma 6453245 fgd1 DOID:6683 - X-linked Aarskog syndrome 6453364 hamp DOID:0111032 - hemochromatosis type 2B|DOID:0111034 - hemochromatosis type 2 6453388 surf1 DOID:0110187 - Charcot-Marie-Tooth disease type 4K|DOID:3652 - Leigh disease 6453443 galt DOID:0111459 - classic galactosemia|DOID:9870 - galactosemia 6453553 enam DOID:0110052 - amelogenesis imperfecta type 1B|DOID:0110056 - amelogenesis imperfecta type 1C 6453712 sycp2 DOID:0070188 - spermatogenic failure 1 6453898 brca2 DOID:0050902 - medulloblastoma|DOID:0080171 - esophageal atresia/tracheoesophageal fistula|DOID:0111089 - Fanconi anemia complementation group D1|DOID:10283 - prostate cancer|DOID:13636 - Fanconi anemia|DOID:1612 - breast cancer|DOID:2154 - nephroblastoma|DOID:5683 - hereditary breast ovarian cancer syndrome 6453973 psmb4 DOID:0060916 - proteasome-associated autoinflammatory syndrome 3 6454014 pgap2 DOID:0070435 - hyperphosphatasia with impaired intellectual development syndrome 3 6454231 edn3 DOID:0060731 - congenital central hypoventilation syndrome|DOID:0110953 - Waardenburg syndrome type 4A|DOID:0110954 - Waardenburg syndrome type 4B 6454243 gdf6 DOID:0060836 - isolated microphthalmia 4|DOID:0081320 - multiple synostoses syndrome 4|DOID:0110217 - Leber congenital amaurosis 17|DOID:10426 - Klippel-Feil syndrome|DOID:10629 - microphthalmia|DOID:14791 - Leber congenital amaurosis 6455903 irs2 DOID:9352 - type 2 diabetes mellitus 6455912 pam16 DOID:0112304 - spondylometaphyseal dysplasia Megarbane-Dagher-Melike type 6455951 mpv17 DOID:0080125 - mitochondrial DNA depletion syndrome 6|DOID:0080126 - mitochondrial DNA depletion syndrome 7 6456352 nrl DOID:0110397 - retinitis pigmentosa 27|DOID:10584 - retinitis pigmentosa 6456430 ctc1 DOID:2729 - dyskeratosis congenita 6456839 selenon DOID:0080102 - congenital myopathy 4A|DOID:0110633 - rigid spine muscular dystrophy 1 6456894 plg DOID:0111592 - plasminogen deficiency type I 6457023 ifngr1 DOID:0111955 - immunodeficiency 27A|DOID:0111956 - immunodeficiency 27B 6457313 ebp DOID:0060292 - X-linked chondrodysplasia punctata 1|DOID:0111865 - MEND syndrome 6457401 cnpy3 DOID:0050562 - West syndrome|DOID:0080432 - developmental and epileptic encephalopathy 60 6457433 pqbp1 DOID:0060179 - Renpenning syndrome 6457495 ptdss1 DOID:0111507 - Lenz-Majewski hyperostotic dwarfism 6457545 gba1 DOID:0060892 - late onset Parkinson's disease|DOID:0110957 - Gaucher's disease type I|DOID:0110958 - Gaucher's disease type II|DOID:0110959 - Gaucher's disease type III|DOID:0110960 - Gaucher's disease perinatal lethal|DOID:0112250 - Gaucher's disease type IIIC|DOID:12217 - Lewy body dementia|DOID:14330 - Parkinson's disease 6457579 wdr4 DOID:0060364 - Galloway-Mowat syndrome 1 6457591 cyc1 DOID:0080115 - mitochondrial complex III deficiency nuclear type 6|DOID:0111139 - mitochondrial complex III deficiency 6457607 tmem107 DOID:0050778 - Meckel syndrome|DOID:0080253 - Meckel syndrome 13|DOID:0080254 - orofaciodigital syndrome XVI 6457635 uqcrb DOID:0080112 - mitochondrial complex III deficiency nuclear type 3|DOID:0111139 - mitochondrial complex III deficiency 6457656 pmvk DOID:3805 - porokeratosis 6457661 timmdc1 DOID:0060536 - mitochondrial complex I deficiency|DOID:0112074 - nuclear type mitochondrial complex I deficiency 1 6457718 poglut1 DOID:0060256 - Dowling-Degos disease|DOID:0080762 - autosomal recessive limb-girdle muscular dystrophy type 2Z 6457748 nsmce2 DOID:0070008 - Seckel syndrome 10 6458118 dtna DOID:0060480 - left ventricular noncompaction 6458530 prg4 DOID:0090127 - camptodactyly-arthropathy-coxa vara-pericarditis syndrome 6458552 znf469 DOID:14775 - brittle cornea syndrome 1 6458565 zmynd15 DOID:0070179 - spermatogenic failure 14|DOID:14227 - azoospermia 6458603 dmp1 DOID:0050949 - autosomal recessive hypophosphatemic rickets 6458609 dspp DOID:4154 - dentinogenesis imperfecta|DOID:701 - dentin dysplasia 6458637 amh DOID:0050791 - persistent Mullerian duct syndrome 6458644 wnt5a DOID:0060766 - autosomal dominant Robinow syndrome 1 6458761 atn1 DOID:0060162 - dentatorubral-pallidoluysian atrophy 6459004 mapre2 DOID:0112243 - congenital symmetric circumferential skin creases 2 6459020 dnai1 DOID:0050144 - Kartagener syndrome|DOID:0110594 - primary ciliary dyskinesia 1 6459156 nup214 DOID:9119 - acute myeloid leukemia|DOID:9952 - acute lymphoblastic leukemia 6459210 trdn DOID:0060674 - catecholaminergic polymorphic ventricular tachycardia|DOID:0060675 - catecholaminergic polymorphic ventricular tachycardia 1|DOID:0060679 - catecholaminergic polymorphic ventricular tachycardia 5|DOID:0110644 - long QT syndrome 1 6459217 sp110 DOID:0112254 - hepatic venoocclusive disease with immunodeficiency 6459278 il10ra DOID:0110899 - inflammatory bowel disease 28 6459395 plec DOID:0060733 - junctional epidermolysis bullosa with pyloric atresia|DOID:0060736 - epidermolysis bullosa simplex Ogna type|DOID:0090017 - epidermolysis bullosa simplex with muscular dystrophy|DOID:0110285 - autosomal recessive limb-girdle muscular dystrophy type 2Q 6459568 epor DOID:0060652 - familial erythrocytosis 1 6459623 slc35a2 DOID:0050571 - congenital disorder of glycosylation type II|DOID:0070265 - congenital disorder of glycosylation type IIm 6459671 sfxn4 DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0111484 - combined oxidative phosphorylation deficiency 18 6459771 myh11 DOID:0060610 - megacystis-microcolon-intestinal hypoperistalsis syndrome|DOID:14004 - thoracic aortic aneurysm 6459862 il17ra DOID:0111996 - immunodeficiency 51|DOID:2058 - chronic mucocutaneous candidiasis 6460075 foxp3 DOID:0090110 - immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome|DOID:9744 - type 1 diabetes mellitus 6460207 tnfaip3 DOID:0080944 - familial Behcet-like autoinflammatory syndrome 6460426 mamld1 DOID:10892 - hypospadias 6460748 adamts17 DOID:0050475 - Weill-Marchesani syndrome 6461128 pop1 DOID:0050640 - anauxetic dysplasia 1|DOID:0080962 - anauxetic dysplasia 2 6461261 aire DOID:0050167 - autoimmune polyendocrine syndrome type 1 6461968 rnaseh2c DOID:0050629 - Aicardi-Goutieres syndrome 6462292 uqcc3 DOID:0080118 - mitochondrial complex III deficiency nuclear type 9|DOID:0111139 - mitochondrial complex III deficiency 6462315 cox8a DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease 6462343 mt-cyb DOID:0111139 - mitochondrial complex III deficiency|DOID:3687 - MELAS syndrome|DOID:705 - Leber hereditary optic neuropathy 6462409 sik1 DOID:0050562 - West syndrome|DOID:0050709 - early infantile epileptic encephalopathy|DOID:308 - early myoclonic encephalopathy 6462438 eda DOID:0050591 - tooth agenesis|DOID:0111664 - ectodermal dysplasia 1|DOID:14793 - hypohidrotic ectodermal dysplasia 6462483 mag DOID:0110820 - hereditary spastic paraplegia 75 6462745 col13a1 DOID:0110673 - congenital myasthenic syndrome 19 6462903 il17rc DOID:2058 - chronic mucocutaneous candidiasis 6462925 ccdc141 DOID:0090078 - hypogonadotropic hypogonadism 7 with or without anosmia|DOID:3614 - Kallmann syndrome 6464188 pnpla1 DOID:0060719 - autosomal recessive congenital ichthyosis 10|DOID:1699 - congenital ichthyosiform erythroderma 6464201 cfap418 DOID:0050572 - cone-rod dystrophy|DOID:0111022 - cone-rod dystrophy 16|DOID:10584 - retinitis pigmentosa|DOID:1935 - Bardet-Biedl syndrome 6464244 cfap43 DOID:0070170 - spermatogenic failure 19|DOID:1572 - normal pressure hydrocephalus 6464268 ddx3y DOID:0070187 - Y-linked spermatogenic failure 2|DOID:14227 - azoospermia 6464667 ucp3 DOID:9970 - obesity 6464886 bdp1 DOID:0050565 - autosomal recessive nonsyndromic deafness 6465356 hspg2 DOID:0090005 - Schwartz-Jampel syndrome 1|DOID:0090032 - Silverman-Handmaker type dyssegmental dysplasia 6465365 abcc6 DOID:0050632 - oculocutaneous albinism|DOID:0050644 - arterial calcification of infancy|DOID:2738 - pseudoxanthoma elasticum 6465464 rbm20 DOID:0110447 - dilated cardiomyopathy 1DD 6465534 cfap221 DOID:0050144 - Kartagener syndrome 6465713 gnmt DOID:0111037 - glycine N-methyltransferase deficiency 6466715 mt-nd1 DOID:0060536 - mitochondrial complex I deficiency|DOID:3687 - MELAS syndrome|DOID:705 - Leber hereditary optic neuropathy 6467220 serpina6 DOID:0090030 - corticosteroid-binding globulin deficiency 6467298 arhgap31 DOID:0060227 - Adams-Oliver syndrome 6467361 mesp2 DOID:0050568 - spondylocostal dysostosis|DOID:0112362 - spondylocostal dysostosis 2|DOID:0112365 - spondylocostal dysostosis 1 6467429 cic DOID:0060307 - autosomal dominant intellectual developmental disorder|DOID:0080236 - autosomal dominant intellectual developmental disorder 45 6467523 loxhd1 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110525 - autosomal recessive nonsyndromic deafness 77 6467920 col17a1 DOID:0060738 - junctional epidermolysis bullosa non-Herlitz type|DOID:0070337 - epithelial recurrent erosion dystrophy 6468279 slc9a3 DOID:0060777 - congenital secretory sodium diarrhea 8 6468378 sftpa1 DOID:0050156 - idiopathic pulmonary fibrosis 6468586 myh14 DOID:0050564 - autosomal dominant nonsyndromic deafness|DOID:0110573 - autosomal dominant nonsyndromic deafness 4A 6468755 col10a1 DOID:0080021 - Schmid metaphyseal chondrodysplasia 6469080 brsk2 DOID:0060307 - autosomal dominant intellectual developmental disorder 6469125 tex15 DOID:0111920 - spermatogenic failure 25 6469645 arsg DOID:0110828 - Usher syndrome type 3 6485440 terc DOID:0070014 - autosomal dominant dyskeratosis congenita 1|DOID:2729 - dyskeratosis congenita 6485444 mt-atp6 DOID:0111143 - mitochondrial complex V (ATP synthase) deficiency|DOID:0111273 - NARP syndrome|DOID:705 - Leber hereditary optic neuropathy 6485457 mt-co3 DOID:3687 - MELAS syndrome|DOID:3762 - cytochrome-c oxidase deficiency disease|DOID:705 - Leber hereditary optic neuropathy 6485476 mt-nd5 DOID:310 - MERRF syndrome|DOID:3687 - MELAS syndrome|DOID:705 - Leber hereditary optic neuropathy 6485486 mt-nd2 DOID:0060536 - mitochondrial complex I deficiency|DOID:705 - Leber hereditary optic neuropathy 6485495 mt-nd3 DOID:0060536 - mitochondrial complex I deficiency 6485500 mt-nd4 DOID:3687 - MELAS syndrome|DOID:705 - Leber hereditary optic neuropathy 6485504 mt-nd6 DOID:3687 - MELAS syndrome|DOID:705 - Leber hereditary optic neuropathy 6485508 mt-nd4l DOID:705 - Leber hereditary optic neuropathy 6489425 tyrobp DOID:0090112 - Nasu-Hakola disease 6489512 krt12.6 DOID:0060451 - Meesmann corneal dystrophy|DOID:0080670 - Meesmann corneal dystrophy 1 6492031 tcof1 DOID:0080789 - Treacher Collins syndrome 1|DOID:2908 - Treacher Collins syndrome 6492057 tlr4 DOID:0110022 - age related macular degeneration 10 6492273 cdkn1b DOID:0080137 - multiple endocrine neoplasia type 4 6492279 krt12.2 DOID:0060451 - Meesmann corneal dystrophy|DOID:0080670 - Meesmann corneal dystrophy 1 6538668 dnajc5 DOID:0110720 - neuronal ceroid lipofuscinosis 4 6539632 ripply2.2 DOID:0112360 - spondylocostal dysostosis 6 6539689 krt12.4 DOID:0060451 - Meesmann corneal dystrophy|DOID:0080670 - Meesmann corneal dystrophy 1 6540413 mmp13 DOID:0080030 - spondyloepimetaphyseal dysplasia, Missouri type 12440936 epo DOID:0080290 - familial erythrocytosis 5 12531593 cdh1 DOID:0080764 - hereditary diffuse gastric cancer|DOID:10283 - prostate cancer|DOID:10534 - stomach cancer|DOID:1380 - endometrial cancer|DOID:1612 - breast cancer|DOID:2394 - ovarian cancer 12563712 pcare DOID:0110364 - retinitis pigmentosa 54|DOID:10584 - retinitis pigmentosa 12564474 glis2 DOID:0111112 - nephronophthisis 1|DOID:0111116 - nephronophthisis 7 12565276 cox14 DOID:0070491 - mitochondrial complex IV deficiency nuclear type 1|DOID:3762 - cytochrome-c oxidase deficiency disease 13579779 mocos DOID:0060236 - xanthinuria|DOID:0070453 - xanthinuria type II 13579783 pet117 DOID:3762 - cytochrome-c oxidase deficiency disease 13579808 ckap2l DOID:0112194 - Filippi syndrome 13579838 mtrfr DOID:0060286 - combined oxidative phosphorylation deficiency|DOID:0110807 - hereditary spastic paraplegia 55|DOID:0111487 - combined oxidative phosphorylation deficiency 7 13579896 blk DOID:0050524 - maturity-onset diabetes of the young|DOID:0111109 - maturity-onset diabetes of the young type 11 18006562 cd79b DOID:0081138 - agammaglobulinemia 6|DOID:2583 - agammaglobulinemia 18034121 rho.2 DOID:0050534 - congenital stationary night blindness|DOID:0110372 - retinitis pigmentosa 4|DOID:0110862 - congenital stationary night blindness autosomal dominant 1|DOID:10584 - retinitis pigmentosa|DOID:11105 - fundus albipunctatus 18386060 cyp27a1.3 DOID:4810 - cerebrotendinous xanthomatosis 22041447 mcidas DOID:0050144 - Kartagener syndrome 22041687 cat.3 DOID:2582 - acatalasia 22041739 otog DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110474 - autosomal recessive nonsyndromic deafness 18B 22060528 g6pc1.3 DOID:2749 - glycogen storage disease Ia 22060943 krt12.3 DOID:0060451 - Meesmann corneal dystrophy|DOID:0080670 - Meesmann corneal dystrophy 1 22060991 krt9.1 DOID:0080223 - epidermolytic palmoplantar keratoderma 22060995 krt9.2 DOID:0080223 - epidermolytic palmoplantar keratoderma 22061121 otogl DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110530 - autosomal recessive nonsyndromic deafness 84B 22061168 tctn3 DOID:0060374 - orofaciodigital syndrome IV|DOID:0060376 - Joubert syndrome with orofaciodigital defect|DOID:0110987 - Joubert syndrome 18 22061499 apoc2 DOID:0111418 - familial apolipoprotein C-II deficiency 22061503 hyls1 DOID:0050777 - Joubert syndrome|DOID:0050779 - hydrolethalus syndrome|DOID:0111355 - hydrolethalus syndrome 1 22061923 guca1a DOID:0050572 - cone-rod dystrophy|DOID:0050795 - cone dystrophy|DOID:0080314 - cone-rod dystrophy 14 22062172 slc26a3.3 DOID:0060296 - congenital secretory chloride diarrhea 1 22062176 slc26a4.1 DOID:0050332 - enlarged vestibular aqueduct|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0060744 - Pendred Syndrome|DOID:0110498 - autosomal recessive nonsyndromic deafness 4 22062180 slc26a4.2 DOID:0050332 - enlarged vestibular aqueduct|DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0060744 - Pendred Syndrome|DOID:0110498 - autosomal recessive nonsyndromic deafness 4 22062346 cryba1.2 DOID:0110258 - cataract 10 multiple types 22062971 slc6a4 DOID:2030 - anxiety disorder 22063042 col11a1 DOID:0060465 - fibrochondrogenesis|DOID:0080046 - Stickler syndrome|DOID:0080672 - fibrochondrogenesis 1|DOID:0080675 - Stickler syndrome 2|DOID:0111510 - Marshall syndrome 22063720 fam20a.2 DOID:0110066 - amelogenesis imperfecta type 1G 22063821 tuba1a DOID:0050453 - lissencephaly|DOID:0112232 - lissencephaly 3 22064172 cyp2a6.10 DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer 22064220 cyp2a6.12 DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer 22064352 cyp2a6.11 DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer 22064356 cyp2a6.4 DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer 22064359 cyp2a6.5 DOID:0080665 - warfarin resistance|DOID:1324 - lung cancer 22064560 fth1.2 DOID:0111031 - hemochromatosis type 5 22064806 cep55 DOID:0050778 - Meckel syndrome 22067987 amer1 DOID:0060886 - osteopathia striata with cranial sclerosis 22068144 cabp2 DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110537 - autosomal recessive nonsyndromic deafness 93 22068155 cblif DOID:0050734 - congenital intrinsic factor deficiency 22068200 cd164 DOID:0050564 - autosomal dominant nonsyndromic deafness 22068222 cdkn1c DOID:0050885 - IMAGe syndrome|DOID:5572 - Beckwith-Wiedemann syndrome 22068290 col7a1 DOID:0060642 - recessive dystrophic epidermolysis bullosa|DOID:0080086 - nonsyndromic congenital nail disorder 8 22068349 dnaaf1 DOID:0050144 - Kartagener syndrome|DOID:0110618 - primary ciliary dyskinesia 13 22068376 eng DOID:1270 - hereditary hemorrhagic telangiectasia 22068477 gabrb2 DOID:0080471 - developmental and epileptic encephalopathy 92 22068523 hsf4 DOID:0110255 - cataract 5 multiple types 22068574 krt6b DOID:0050449 - pachyonychia congenita 22068923 plvap DOID:0060778 - congenital diarrhea 7 with exudative enteropathy 22068936 podxl DOID:0060894 - early-onset Parkinson's disease 22068966 prop1 DOID:9410 - panhypopituitarism 22069037 ptprj DOID:9256 - colorectal cancer 22069116 sftpa2 DOID:0050156 - idiopathic pulmonary fibrosis 22069345 tnfsf12 DOID:12177 - common variable immunodeficiency 22069352 tprn DOID:0050565 - autosomal recessive nonsyndromic deafness|DOID:0110526 - autosomal recessive nonsyndromic deafness 79 22164539 mylk DOID:0060610 - megacystis-microcolon-intestinal hypoperistalsis syndrome|DOID:14004 - thoracic aortic aneurysm 22164548 c5.2 DOID:8158 - complement component 5 deficiency 22168628 epb42 DOID:0110920 - hereditary spherocytosis type 5|DOID:12971 - hereditary spherocytosis 22169449 jph3.2 DOID:0090104 - Huntington's disease-like 2 22172431 alg13 DOID:0050570 - congenital disorder of glycosylation type I|DOID:0050776 - non-syndromic X-linked intellectual disability|DOID:0080470 - developmental and epileptic encephalopathy 36 22172598 guca1b DOID:0110382 - retinitis pigmentosa 48|DOID:10584 - retinitis pigmentosa 22251944 mt-tl1 DOID:0050700 - cardiomyopathy 29072347 axin2 DOID:0050591 - tooth agenesis|DOID:9256 - colorectal cancer 29093450 cyp27a1.2 DOID:4810 - cerebrotendinous xanthomatosis