disease

disease Show first 5 Terms

3-M syndrome 3MC syndrome Aagenaes syndrome Aarskog syndrome ABCD syndrome ... Show All 441 Terms

3-M syndrome 3MC syndrome Aagenaes syndrome Aarskog syndrome ABCD syndrome abdominal obesity-metabolic syndrome ablepharon macrostomia syndrome Abruzzo-Erickson syndrome achalasia microcephaly syndrome Achard syndrome acrocallosal syndrome acrocardiofacial syndrome acrorenal syndrome Adams-Oliver syndrome Adie syndrome ADULT syndrome agenesis of corpus callosum, cardiac, ocular, and genital syndrome Aicardi syndrome Aicardi-Goutieres syndrome Alkuraya-Kucinskas syndrome Allan-Herndon-Dudley syndrome alopecia, neurologic defects, and endocrinopathy syndrome alopecia-mental retardation syndrome alpha-thalassemia myelodysplasia syndrome Alport syndrome Alstrom syndrome AMED syndrome AMME complex Angelman syndrome anterior spinal artery syndrome Antley-Bixler syndrome with disordered steroidogenesis aplasia of lacrimal and salivary glands ARC syndrome autoimmune interstitial lung, joint, and kidney disease autosomal dominant congenital deafness with onychodystrophy autosomal dominant keratitis-ichthyosis-deafness syndrome Ayme-Gripp syndrome Bainbridge-Ropers syndrome Baraitser-Winter syndrome Barber-Say syndrome Bardet-Biedl syndrome Barre-Lieou syndrome Bart-Pumphrey syndrome basilar artery insufficiency Beare-Stevenson cutis gyrata syndrome Beckwith-Wiedemann syndrome Beemer-Langer syndrome Birk-Barel syndrome Bjornstad syndrome Blau syndrome blepharocheilodontic syndrome blepharophimosis, ptosis, and epicanthus inversus syndrome blepharophimosis-impaired intellectual development syndrome Bloom syndrome Bosch-Boonstra-Schaaf optic atrophy syndrome Boucher-Neuhauser syndrome Bowen-Conradi syndrome brachycephaly, trichomegaly, and developmental delay brachydactyly-syndactyly syndrome brachyolmia-amelogenesis imperfecta syndrome branchiooculofacial syndrome branchiootic syndrome branchiootorenal syndrome breast implant illness Brown-Vialetto-Van Laere syndrome Bruck syndrome Burn-McKeown syndrome Buschke-Ollendorff syndrome C syndrome camptodactyly-arthropathy-coxa vara-pericarditis syndrome camptodactyly-tall stature-scoliosis-hearing loss syndrome Carey-Fineman-Ziter syndrome Carney complex Carney-Stratakis syndrome Caroli syndrome Cauda equina syndrome CEDNIK syndrome cerebellar ataxia, mental retardation and dysequlibrium syndrome cerebellar atrophy, visual impairment, and psychomotor retardation cerebellar hyplasia/atrophy, epilepsy, and global developmental delay cerebellofaciodental syndrome cerebrocostomandibular syndrome CHARGE syndrome Chediak-Higashi syndrome CHILD syndrome CHIME syndrome chondrodysplasia punctata chondrodysplasia-pseudohermaphroditism syndrome chronic atrial and intestinal dysrhythmia chronic fatigue syndrome ciliopathy cleft lip-palate-ectodermal dysplasia syndrome cleft palate, cardiac defects, and intellectual disabillity CLOVES syndrome COACH syndrome Cockayne syndrome CODAS syndrome Coffin-Lowry syndrome Coffin-Siris syndrome Cohen syndrome cold-induced sweating syndrome congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay congenital heart defects, dysmorphic facial features, and intellectual developmental disorder congenital heart defects, hamartomas of tongue, and polysyndactyly congenital leptin deficiency congenital limbs-face contractures-hypotonia-developmental delay syndrome contractures, pterygia, and spondylocarpotarsal fusion syndrome corneal dystrophy-perceptive deafness syndrome Cornelia de Lange syndrome corpus callosum agenesis-abnormal genitalia syndrome cranioectodermal dysplasia craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome craniofacial-deafness-hand syndrome craniofrontonasal syndrome craniolenticulosutural dysplasia CREST syndrome Cri-Du-Chat syndrome Crouzon syndrome-acanthosis nigricans syndrome Culler-Jones syndrome Currarino syndrome cystic fibrosis deafness, dystonia, and cerebral hypomyelination Denys-Drash syndrome DeSanto-Shinawi syndrome developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome DICER1 syndrome diffuse infiltrative lymphocytosis syndrome DiGeorge syndrome dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome dominant optic atrophy plus syndrome Donnai-Barrow syndrome Donohue syndrome DOORS syndrome Duane-radial ray syndrome Dubowitz syndrome dysplastic nevus syndrome EAST syndrome ectodermal dysplasia EEC syndrome Ellis-Van Creveld syndrome Elsahy-Waters syndrome encephalopathy due to defective mitochondrial and peroxisomal fission 1 endocrine-cerebro-osteodysplasia syndrome epidermolysis bullosa simplex with muscular dystrophy Fanconi-like syndrome Feingold syndrome Felty's syndrome fetal akinesia deformation sequence syndrome fetal encasement syndrome fetal valproate syndrome FG syndrome fibrogenesis imperfecta ossium fibromyalgia Filippi syndrome Floating-Harbor syndrome focal dermal hypoplasia fragile X syndrome Fraser syndrome Frasier syndrome frontonasal dysplasia Fuchs' heterochromic uveitis Galloway-Mowat syndrome Gamstorp-Wohlfart syndrome GAPO syndrome geroderma osteodysplasticum Ghosal hematodiaphyseal syndrome Gillespie syndrome Goldberg-Shprintzen syndrome Goldenhar syndrome Gorham's disease growth hormone insensitivity syndrome with immune dysregulation 1 growth hormone insensitivity syndrome with immune dysregulation 2 Guttmacher syndrome Hallermann-Streiff syndrome Halperin-Birk syndrome hand-foot-genital syndrome Harel-Yoon syndrome Hengel-Maroofian-Schols syndrome hepatic venoocclusive disease with immunodeficiency hereditary alpha tryptasemia syndrome hereditary arterial and articular multiple calcification syndrome hereditary breast ovarian cancer syndrome hereditary desmoid disease Hermansky-Pudlak syndrome high myopia-sensorineural deafness syndrome histiocytosis-lymphadenopathy plus syndrome holoprosencephaly Holt-Oram syndrome Holzgreve-Wagner-Rehder Syndrome hydrolethalus syndrome hyperferritinemia-cataract syndrome hypertelorism, microtia, facial clefting syndrome hypertension and brachydactyly syndrome hypoparathyroidism-retardation-dysmorphism syndrome hypophosphatasia hypoplastic or aplastic tibia with polydactyly hypotonia, ataxia, and delayed development syndrome hypotonia-cystinuria syndrome hypotrichosis-lymphedema-telangiectasia syndrome hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ichthyosis follicularis-alopecia-photophobia syndrome 1 IGSF1 deficiency syndrome IMAGe syndrome immunodeficiency-centromeric instability-facial anomalies syndrome inclusion body myopathy with Paget disease of bone and frontotemporal dementia infantile liver failure syndrome intellectual developmental disorder with cardiac arrhythmia intellectual developmental disorder with short stature and behavioral abnormalities IVIC syndrome Jackson-Weiss syndrome Jalili syndrome Johanson-Blizzard syndrome juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome Kabuki syndrome Kagami-Ogata syndrome Kahrizi syndrome KBG syndrome Keipert syndrome Kenny-Caffey syndrome KINSSHIP syndrome Kleefstra syndrome Klippel-Feil syndrome Klippel-Trenaunay syndrome Kohlschutter-Tonz syndrome Koolen de Vries syndrome LADD syndrome Laron syndrome Larsen syndrome Larsen-like syndrome B3GAT3 type lateral meningocele syndrome Laurence-Moon syndrome Leber plus disease Lenz-Majewski hyperostotic dwarfism lethal congenital contracture syndrome Li-Fraumeni syndrome linear nevus sebaceous syndrome Loeys-Dietz syndrome Lown-Ganong-Levine syndrome lymphedema-distichiasis syndrome Lynch syndrome macrocephaly-autism syndrome Maffucci syndrome mandibulofacial dysostosis with alopecia mandibulofacial dysostosis, Guion-Almeida type Marinesco-Sjogren syndrome Marshall-Smith syndrome Marsili syndrome Martsolf syndrome Mayer-Rokitansky-Kuster-Hauser syndrome McCune Albright syndrome McKusick-Kaufman syndrome median arcuate ligament syndrome MEDNIK syndrome Meester-Loeys syndrome megacystis-microcolon-intestinal hypoperistalsis syndrome Meier-Gorlin syndrome melanoma and neural system tumor syndrome microcephaly and chorioretinopathy 1 microcephaly and chorioretinopathy 2 microcephaly and chorioretinopathy 3 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation microcephaly, growth deficiency, seizures, and brain malformations microcephaly-micromelia syndrome microphthalmia with limb anomalies midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis Miller-Dieker lissencephaly syndrome mismatch repair cancer syndrome MLS syndrome mosaic variegated aneuploidy syndrome Mowat-Wilson syndrome Muckle-Wells syndrome Mulchandani-Bhoj-Conlin syndrome mulibrey nanism multicentric carpotarsal osteolysis syndrome multicentric reticulohistiocytosis multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly multiple chemical sensitivity multiple endocrine neoplasia multiple epiphyseal dysplasia with myopia and deafness N syndrome nail-patella syndrome Nance-Horan syndrome Nasu-Hakola disease neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies neurodevelopmental disorder with hypotonia and speech delay neurooculocardiogenitourinary syndrome nevoid basal cell carcinoma syndrome NFIA-related disorder Nicolaides-Baraitser syndrome Nijmegen breakage syndrome Norrie disease oculoauricular syndrome oculocerebrorenal syndrome oculocutaneous albinism oculodentodigital dysplasia Ogden syndrome Ohdo syndrome Oliver-McFarlane syndrome Ollier disease Opitz GBBB syndrome orofacial cleft orofaciodigital syndrome osteoporosis-pseudoglioma syndrome overactive bladder syndrome pachyonychia congenita Pallister-Hall syndrome palmoplantar keratoderma-deafness syndrome palmoplantar keratoderma-esophageal carcinoma syndrome pancreatic hypoplasia-diabetes-congenital heart disease syndrome PAPA syndrome PCWH syndrome Pendred Syndrome Perlman syndrome Perrault syndrome Perry syndrome persian gulf syndrome Peters plus syndrome PHARC syndrome Pierson syndrome Pitt-Hopkins syndrome plasminogen deficiency type I polyhydramnios, megalencephaly, and symptomatic epilepsy popliteal pterygium syndrome post-cardiac arrest syndrome postaxial acrofacial dysostosis Potocki-Shaffer syndrome Prader-Willi syndrome primary hypertrophic osteoarthropathy progeroid syndrome progressive osseous heteroplasia proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome proprotein convertase 1/3 deficiency proteosome-associated autoinflammatory syndrome proximal symphalangism prune belly syndrome pseudo-TORCH syndrome 1 PTEN hamartoma tumor syndrome Qazi Markouizos syndrome rapadilino syndrome RASopathy renal coloboma syndrome Reye syndrome RIDDLE syndrome Ritscher-Schinzel syndrome Roberts syndrome Robinow syndrome Rubinstein-Taybi syndrome Ruijs-Aalfs syndrome SADDAN salt and pepper syndrome Sandestig-Stefanova syndrome SAPHO syndrome SATB2-associated syndrome Schaaf-Yang syndrome Schinzel type phocomelia Schwartz-Jampel syndrome 1 Seckel syndrome Senior-Loken syndrome septooptic dysplasia short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies short stature, hearing loss, retinitis pigmentosa, and distinctive facies SHORT syndrome Shukla-Vernon syndrome Shwachman-Diamond syndrome Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel syndrome type 2 Sjogren-Larsson syndrome Sotos syndrome spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis Stickler syndrome Stolerman neurodevelopmental syndrome subclavian steal syndrome sudden infant death syndrome Sweeney-Cox syndrome syndactyly-telecanthus-anogenital and renal malformations syndrome TANGO2-related metabolic encephalopathy and arrythmias TARP syndrome Teebi hypertelorism syndrome Temple syndrome temtamy preaxial brachydactyly syndrome Temtamy syndrome terminal osseous dysplasia tetraamelia syndrome thiamine-responsive megaloblastic anemia syndrome thrombocytopenia-absent radius syndrome Tietz syndrome Tietze's syndrome Timothy syndrome tooth and nail syndrome TORCH syndrome Townes-Brocks syndrome Treacher Collins syndrome trichodontoosseous syndrome trichohepatoenteric syndrome trichorhinophalangeal syndrome type I trichorhinophalangeal syndrome type II trichorhinophalangeal syndrome type III trichothiodystrophy triple-A syndrome tuberous sclerosis ulnar-mammary syndrome urofacial syndrome Uruguay faciocardiomusculoskeletal syndrome Usher syndrome uveal coloboma-cleft lip and palate-intellectual disability VACTERL association Van den Ende-Gupta syndrome Van der Woude syndrome Van Maldergem syndrome ventriculomegaly - cystic kidney disease vertebral anomalies and variable endocrine and T-cell dysfunction vertebral artery insufficiency vertebral hypersegmentation and orofacial anomalies VEXAS syndrome Vici syndrome Vissers-Bodmer syndrome Vohwinkel syndrome Waardenburg syndrome Waisman syndrome Warburg micro syndrome Warsaw breakage syndrome Weaver syndrome Weill-Marchesani syndrome Williams-Beuren syndrome Winchester syndrome Wiskott-Aldrich syndrome Wissler-Fanconi syndrome Wolcott-Rallison syndrome Wolfram syndrome Woodhouse-Sakati syndrome wrinkly skin syndrome X-linked retinitis pigmentosa and sinorespiratory infections xeroderma pigmentosum yellow nail syndrome Yoon-Bellen neurodevelopmental syndrome Yunis-Varon syndrome Zaki syndrome Zika virus congenital syndrome Zollinger-Ellison syndrome Show first 5 Terms