| Disease Browser
|
Parent Node:
 Congenital Abnormalities (D000013) |
..Starting node
.. Abnormalities, Multiple (D000015)
|
Child Nodes:
|
........22q11 Deletion Syndrome (D058165)  5 |
| ........3-Methylglutaconic Aciduria Type IV (C565393) |
| ........3C syndrome (C535313) |
| ........Aase Smith syndrome (C535332) |
| ........Ablepharon macrostomia syndrome (C535557) |
| ........Acrocephalopolydactylous Dysplasia (C573722) |
| ........Acromegaloid features, overgrowth, cleft palate, and hernia (C535656) |
| ........Adducted Thumbs Syndrome (C562949) 1 |
| ........Agenesis of Cerebellar Vermis (C580212) |
| ........Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations (C563429) |
| ........Aksu von Stockhausen syndrome (C535611) |
| ........Al Gazali Aziz Salem syndrome (C535613) |
| ........Al-Gazali Syndrome (C536817) |
| ........Alagille Syndrome (D016738) |
| ........Alstrom Syndrome (D056769) |
| ........Amastia, Bilateral, With Ureteral Triplication And Dysmorphism (C566295) |
| ........Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/Mental Retardation Syndrome (C565796) |
| ........Angelman Syndrome (D017204) 1 |
| ........Anisomastia (C565299) |
| ........Arthrogryposis epileptic seizures migrational brain disorder (C537442) |
| ........Aughton syndrome (C538269) |
| ........Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation (C565923) |
| ........Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789) |
| ........Axial mesodermal dysplasia spectrum (C537790) |
| ........Bamforth syndrome (C537901) |
| ........Bardet-Biedl Syndrome (D020788) 13 |
| ........Barth Syndrome (D056889) 2 |
| ........Basal Cell Nevus Syndrome (D001478) 1 |
| ........Beckwith-Wiedemann Syndrome (D001506) 1 |
| ........Ben Ari Shuper Mimouni syndrome (C535427) |
| ........Beta-Hydroxyisobutyryl CoA Deacylase Deficiency (C562803) |
| ........Beta-Ureidopropionase Deficiency (C563210) |
| ........Blepharophimosis syndrome Ohdo type (C536232) |
| ........Bloom Syndrome (D001816) |
| ........Bowen syndrome (C538164) |
| ........Brachydactyly, Intraventricular Septal Defect, And Deafness (C566521) |
| ........Brachymesomelia renal syndrome (C537096) |
| ........Branchio-Oto-Renal Syndrome (D019280) 5 |
| ........Branchiogenic-Deafness Syndrome (C563780) |
| ........Broad Terminal Phalanges, Familial (C566588) |
| ........Burnett Schwartz Berberian syndrome (C537412) |
| ........Carney Complex (D056733) 1 |
| ........Cerebrofaciothoracic Dysplasia (C565862) |
| ........Cerebrofrontofacial Syndrome (C563904) |
| ........Cervical ribs sprengel anomaly anal atresia urethral obstruction (C538072) |
| ........Char syndrome (C566815) |
| ........CHARGE Syndrome (D058747) |
| ........Chemke Oliver Mallek syndrome (C535922) |
| ........Chondrodysplasia, Megarbane-Dagher-Melki Type (C567644) |
| ........Chromosome 15q26-Qter Deletion Syndrome (C567232) |
| ........Chromosome 17q21.31 Deletion Syndrome (C566476) |
| ........Chromosome 19q13.11 Deletion Syndrome (C567810) |
| ........Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb (C567291) |
| ........Chromosome 1q43-Q44 Deletion Syndrome (C567346) |
| ........Chromosome 22q11.2 Deletion Syndrome, Distal (C567511) |
| ........Chromosome 22q11.2 Microduplication Syndrome (C567224) |
| ........Chromosome 2p16.1-P15 Deletion Syndrome (C567289) |
| ........Chromosome 2q31.2 Deletion Syndrome (C567344) |
| ........Chromosome 2q32-Q33 Deletion Syndrome (C567350) |
| ........CHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792) |
| ........Chromosome 5p13 Duplication Syndrome (C567717) |
| ........Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427) |
| ........COACH syndrome (C536430) |
| ........Cockayne Syndrome (D003057) 6 |
| ........Coffin-Siris syndrome (C536436) |
| ........Cold-Induced Sweating Syndrome 1 (C564791) |
| ........Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515) |
| ........Contiguous Abcd1/Dxs1375e Deletion Syndrome (C564508) |
| ........Costello Syndrome (D056685) |
| ........Costocoracoid ligament congenitally short (C536448) |
| ........Craniofacial deafness hand syndrome (C536453) |
| ........Craniofaciofrontodigital Syndrome (C567298) |
| ........Craniofacioskeletal Syndrome (C567471) |
| ........Craniomicromelic Syndrome (C566522) |
| ........Craniosynostosis Syndrome, Autosomal Recessive (C564700) |
| ........Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig (C565664) |
| ........Cree Mental Retardation Syndrome (C564654) |
| ........Cri-du-Chat Syndrome (D003410) 6 |
| ........Crumpled helices and small mouth (C536217) |
| ........Cryptomicrotia brachydactyly syndrome (C536219) |
| ........De Lange Syndrome (D003635) 1 |
| ........Deaf-Blind Disorders (D054062) 26 |
| ........Deafness nephritis ano rectal malformation (C535996) |
| ........Delayed Cranial Ossification due to CBFB Haploinsufficiency (C565160) |
| ........Desmosterolosis (C566555) |
| ........Devriendt syndrome (C535947) |
| ........Diarrhea 3, Secretory Sodium, Congenital (C562576) |
| ........Dincsoy Salih Patel syndrome (C536177) |
| ........DK Phocomelia Syndrome (C565618) |
| ........Donohue Syndrome (D056731) 1 |
| ........Down Syndrome (D004314) 6 |
| ........Ectodermal Dysplasia (D004476) 144 |
| ........Ectrodactyly cardiopathy dysmorphism (C536187) |
| ........Elliott Ludman Teebi syndrome (C536204) |
| ........Ellis Yale Winter syndrome (C536205) |
| ........Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract (C565584) |
| ........Facial Dysmorphism with Multiple Malformations (C565579) |
| ........Facio thoraco genital syndrome (C536387) |
| ........Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder (C564427) |
| ........Feingold Trainer syndrome (C536179) |
| ........Femur bifid with monodactylous ectrodactyly (C537917) |
| ........Femur fibula ulna syndrome (C537918) |
| ........Fibrochondrogenesis (C562524) |
| ........Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331) |
| ........Fine-Lubinsky syndrome (C537933) |
| ........Flat umbilicus familial (C537059) |
| ........Floating-harbor syndrome (C537062) |
| ........Forney Robinson Pascoe syndrome (C537269) |
| ........Fountain syndrome (C537270) |
| ........Fraser Jequier Chen syndrome (C535481) |
| ........Fraser Syndrome (D058497) |
| ........Fried Goldberg Mundel syndrome (C535640) |
| ........Gardner Morrisson Abbot syndrome (C535643) |
| ........Gardner Syndrome (D005736) 3 |
| ........GEMSS syndrome (C537679) |
| ........Genee-Wiedemann syndrome (C537680) |
| ........Glutamyl Ribose-5-Phosphate Storage Disease (C564422) |
| ........Gomez Lopez Hernandez syndrome (C537285) |
| ........Gonadal Dysgenesis, XY Type, with Associated Anomalies (C565536) |
| ........Gorlin Chaudhry Moss syndrome (C537290) |
| ........Grant syndrome (C537293) |
| ........Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358) |
| ........Growth Retardation, Developmental Delay, Coarse Facies, And Early Death (C567856) |
| ........Hadziselimovic Syndrome (C567850) |
| ........Halal syndrome (C535622) |
| ........Hand foot uterus syndrome (C535627) |
| ........Hanhart syndrome (C535629) |
| ........Harrod Doman Keele syndrome (C535635) |
| ........Heart defects limb shortening (C535850) |
| ........Hecht Scott syndrome (C535856) |
| ........Hecht syndrome (C535857) |
| ........Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935) |
| ........Hersh Podruch Weisskopk syndrome (C538114) |
| ........Heterotaxy Syndrome (D059446) 7 |
| ........HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376) |
| ........Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817) |
| ........Hittner Hirsch Kreh syndrome (C538323) |
| ........Ho Kaufman Mcalister syndrome (C538325) |
| ........Holoprosencephaly (D016142) 22 |
| ........Holt-Oram syndrome (C535326) |
| ........Holzgreve Wagner Rehder syndrome (C535327) |
| ........Hordnes Engebretsen Knudtson syndrome (C536067) |
| ........Hunter-Macdonald Syndrome (C567445) |
| ........Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features (C567731) |
| ........Hyperphosphatasia with Mental Retardation (C565495) 2 |
| ........Hypomelia mullerian duct anomalies (C537155) |
| ........Hypoparathyroidism-retardation-dysmorphism syndrome (C537157) |
| ........Hypophosphatemia, Renal, with Intracerebral Calcifications (C565478) |
| ........Hypotonia, Seizures, And Precocious Puberty (C567566) |
| ........Incontinentia Pigmenti (D007184) 2 |
| ........Insulin-Like Growth Factor I, Resistance To (C564816) |
| ........Iris dysplasia hypertelorism deafness (C535537) |
| ........Isolated Noncompaction of the Ventricular Myocardium (D056830) 5 |
| ........Jarcho-Levin syndrome (C537565) 1 |
| ........Jequier Kozlowski skeletal dysplasia (C537569) |
| ........Jung Wolff Back Stahl syndrome (C537694) |
| ........Kabuki syndrome (C537705) |
| ........Kapur Toriello syndrome (C537008) |
| ........Kashani Strom Utley syndrome (C537010) |
| ........Kasznica Carlson Coppedge syndrome (C537011) |
| ........KBG syndrome (C537015) |
| ........Keratoconus Posticus Circumscriptus with Associated Malformations (C565455) |
| ........Keutel syndrome (C536167) |
| ........Kleiner Holmes syndrome (C536885) |
| ........Knuckle pads, leuconychia and sensorineural deafness (C537210) |
| ........Kosztolanyi syndrome (C537024) |
| ........Kozlowski Brown Hardwick syndrome (C537506) |
| ........Krauss Herman Holmes syndrome (C537618) |
| ........Krieble Bixler syndrome (C537619) |
| ........Kyphomelic dysplasia (C538128) |
| ........Lacrimoauriculodentodigital syndrome (C538132) |
| ........Larsen like syndrome, lethal type (C537872) |
| ........Larsen syndrome, recessive type (C537874) |
| ........Larsen-Like Syndrome (C563914) |
| ........Lateral meningocele syndrome (C537878) |
| ........Lateral semicircular canal malformation, familial, with external and middle ear abnormalities (C537879) |
| ........Laurence-Moon Syndrome (D007849) |
| ........Laurin-Sandrow syndrome (C535689) |
| ........Le Marec Bracq Picaud syndrome (C536997) |
| ........Lenz Majewski hyperostotic dwarfism (C537115) |
| ........LEOPARD Syndrome (D044542) 2 |
| ........Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (C535888) |
| ........Light Fixation Seizure Syndrome (C566367) |
| ........Loeys-Dietz Syndrome (D055947) 5 |
| ........Lopes Gorlin syndrome (C537036) |
| ........Lowry Maclean syndrome (C537037) |
| ........Lutz Richner Landolt syndrome (C537726) |
| ........Lymphedema, Cardiac Septal Defects, And Characteristic Facies (C567398) |
| ........Macrosomia obesity macrocephaly ocular abnormalities (C535812) |
| ........Macrosomia with lethal microphthalmia (C537830) |
| ........Male pseudohermaphroditism/mental retardation syndrome, Verloes type (C535693) |
| ........Malpuech facial clefting syndrome (C535704) |
| ........Manouvrier syndrome (C535708) |
| ........Marden Walker like syndrome (C535909) |
| ........Marden-Walker syndrome (C535910) |
| ........Marfan Syndrome (D008382) 9 |
| ........Marles Greenberg Persaud syndrome (C536022) |
| ........Marshall-Smith syndrome (C536026) |
| ........Martin-Probst Deafness-Mental Retardation Syndrome (C564495) |
| ........McDonough syndrome (C538158) |
| ........McKusick Kaufman syndrome (C538159) |
| ........McPherson Clemens syndrome (C538160) |
| ........Meckel Syndrome, Type 5 (C566915) |
| ........Meckel Syndrome, Type 6 (C567365) |
| ........Megacystis microcolon intestinal hypoperistalsis syndrome (C536138) 1 |
| ........Megalencephaly cutis marmorata telangiectatica congenita (C536142) |
| ........Megarbane Jalkh Syndrome (C548071) |
| ........Megarbane syndrome (C536145) |
| ........Mehes syndrome (C536146) |
| ........Melhem Fahl syndrome (C537238) |
| ........Mental Retardation, Buenos Aires Type (C563095) |
| ........Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342) |
| ........Mesomelia-synostoses syndrome (C537348) |
| ........Mesomelic Limb Shortening and Bowing (C565404) |
| ........Michels Caskey syndrome (C537576) |
| ........Microcephaly albinism digital anomalies syndrome (C537322) |
| ........Microcephaly seizures mental retardation heart disorders (C537544) |
| ........Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849) |
| ........Microdontia hypodontia short stature (C537553) |
| ........Microspherophakia with hernia (C537468) |
| ........Mobius Syndrome (D020331) 4 |
| ........Monilethrix (D056734) 1 |
| ........Morillo-Cucci Passarge syndrome (C536983) |
| ........MORM syndrome (C536984) |
| ........Mousa Al din Al Nassar syndrome (C536989) |
| ........Mucolipidosis II Alpha Beta (C567100) |
| ........Muller Barth Menger syndrome (C537370) |
| ........Multiple Congenital Anomalies Syndrome with Cloverleaf Skull (C564611) |
| ........Multiple pterygium syndrome (C537377) 1 |
| ........Nablus mask-like facial syndrome (C536110) |
| ........Nail-Patella Syndrome (D009261) 1 |
| ........Nasopalpebral lipoma coloboma syndrome (C538338) |
| ........Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia (C538340) |
| ........Netherton Syndrome (D056770) |
| ........Neu Laxova syndrome (C536405) |
| ........Neurofaciodigitorenal syndrome (C537388) |
| ........Nevus, Sebaceous of Jadassohn (D054000) 1 |
| ........Novak syndrome (C537851) |
| ........Oculocerebral hypopigmentation syndrome type Preus (C537866) |
| ........Oculocerebrorenal Syndrome (D009800) 1 |
| ........Oculootoradial syndrome (C535544) |
| ........Oculopalatocerebral Syndrome (C564935) |
| ........Oculorenocerebellar syndrome (C537739) |
| ........Orofaciodigital Syndromes (D009958) 14 |
| ........Oslam syndrome (C537138) |
| ........Palant cleft palate syndrome (C538102) |
| ........Pallister W syndrome (C538106) |
| ........Pallister-Hall Syndrome (D054975) |
| ........Patterson pseudoleprechaunism syndrome (C536310) |
| ........Pelvis-Shoulder Dysplasia (C566811) |
| ........Penoscrotal transposition (C536650) |
| ........Pentalogy of Cantrell (D058502) |
| ........Perisylvian syndrome (C536658) |
| ........Petty Laxova Wiedemann syndrome (C537886) |
| ........Pfeiffer Kapferer syndrome (C537887) |
| ........Pfeiffer Mayer syndrome (C537888) |
| ........Pfeiffer Palm Teller syndrome (C537889) |
| ........Pfeiffer Tietze Welte syndrome (C537891) |
| ........Piepkorn Karp Hickok syndrome (C535774) |
| ........Pierson syndrome (C537185) |
| ........Pilotto syndrome (C537400) |
| ........Pituitary Hormone Deficiency, Combined, 1 (C567803) |
| ........Pituitary Hormone Deficiency, Combined, 4 (C567492) |
| ........Podder-Tolmie syndrome (C537518) |
| ........POEMS Syndrome (D016878) |
| ........Pointer syndrome (C536323) |
| ........Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881) |
| ........Powell Chandra Saal syndrome (C538357) |
| ........Prader-Willi Syndrome (D011218) 2 |
| ........Preaxial deficiency, postaxial polydactyly and hypospadias (C538278) |
| ........Premature aging, Okamoto type (C535270) |
| ........Primrose syndrome (C536420) |
| ........Prolidase Deficiency (D056732) |
| ........Proteus Syndrome (D016715) 1 |
| ........Prune Belly Syndrome (D011535) 3 |
| ........Pseudoaminopterin syndrome (C535823) |
| ........Pterygium colli mental retardation digital anomalies (C535831) |
| ........Pulmonary Hypoplasia, Primary (C562992) |
| ........Qazi Markouizos syndrome (C536259) |
| ........Radial defect Robin sequence (C536261) |
| ........Radial hypoplasia, triphalangeal thumbs and hypospadias (C536262) |
| ........Radial ray hypoplasia choanal atresia (C536263) |
| ........Radio-ulnar synostosis type 1 (C536268) |
| ........Radio-ulnar synostosis type 2 (C536269) |
| ........Raine syndrome (C535282) |
| ........Ramos Arroyo Clark syndrome (C535286) |
| ........Renal hepatic pancreatic dysplasia Dandy Walker cyst (C537756) |
| ........Renal Tubular Dysgenesis With Choanal Atresia And Athelia (C567491) |
| ........Rozin Hertz Goodman syndrome (C535876) |
| ........Rubella Syndrome, Congenital (D012410) |
| ........Rubinstein-Taybi Syndrome (D012415) 2 |
| ........Rudiger Syndrome (C562912) |
| ........Ruvalcaba Syndrome (C579395) |
| ........Saal Bulas syndrome (C537193) |
| ........Sackey Sakati Aur syndrome (C537219) |
| ........Sacral defect and anterior sacral meningocele (C537221) |
| ........Sacral meningocele conotruncal heart defects (C537223) |
| ........Samson Viljoen syndrome (C537231) |
| ........Sanderson Fraser syndrome (C537232) |
| ........Sandhaus Ben-Ami syndrome (C537233) |
| ........Sao Paulo MCA/MR Syndrome (C563119) |
| ........Say Field Coldwell syndrome (C536619) |
| ........Say Meyer syndrome (C536620) |
| ........Say syndrome (C536621) |
| ........Scalp ear nipple syndrome (C536623) |
| ........SCARF syndrome (C536625) |
| ........Schaefer Stein Oshman syndrome (C536627) |
| ........Schinzel-Giedion syndrome (C536632) |
| ........Schrander-Stumpel Theunissen Hulsmans syndrome (C536639) |
| ........Scott Bryant Graham syndrome (C537528) |
| ........Seaver Cassidy syndrome (C537529) |
| ........Seckel like syndrome type Buebel (C537532) |
| ........Seemanova Lesny syndrome (C537536) |
| ........Seow Najjar syndrome (C537584) |
| ........Sharma Kapoor Ramji syndrome (C537595) |
| ........Short Rib-Polydactyly Syndrome (D012779) 3 |
| ........Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting (C566989) |
| ........Shprintzen omphalocele syndrome (C537329) |
| ........Siegler Brewer Carey syndrome (C537335) |
| ........Silengo Lerone Pelizza syndrome (C537336) |
| ........Silver-Russell Syndrome (D056730) 1 |
| ........Simpson-Golabi-Behmel Syndrome, Type 2 (C564567) |
| ........Smith-Lemli-Opitz Syndrome (D019082) 1 |
| ........Smith-Magenis Syndrome (D058496) 1 |
| ........Sotos Syndrome (D058495) 1 |
| ........Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662) |
| ........Spondylocarpotarsal synostosis (C535780) |
| ........Spondylohypoplasia, arthrogryposis and popliteal pterygium (C535790) |
| ........Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features (C548086) |
| ........Stevenson-Carey Syndrome (C567446) |
| ........Stoelinga de Koomen Davis syndrome (C537496) |
| ........Tamari Goodman syndrome (C536896) |
| ........Teebi Shaltout syndrome (C536950) |
| ........Teebi syndrome (C536951) |
| ........Teeth noneruption of with maxillary hypoplasia and genu valgum (C536952) |
| ........Tetra-amelia with pulmonary hypoplasia (C536499) |
| ........Tetraamelia multiple malformations (C536500) |
| ........Thakker Donnai syndrome (C536503) |
| ........Thomas Jewett Raines syndrome (C536513) |
| ........Thomas syndrome (C536514) |
| ........Thoracolaryngopelvic dysplasia (C536517) |
| ........Thymic Aplasia with Fetal Death (C564768) |
| ........Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies (C563403) |
| ........Tollner Horst Manzke syndrome (C536964) |
| ........Townes-Brocks syndrome (C536974) |
| ........Townes-Brocks-Branchiootorenal-Like Syndrome (C566272) |
| ........Tricho-dento-osseous syndrome 1 (C536550) |
| ........Trichothiodystrophy Syndromes (D054463) 5 |
| ........Triphalangeal thumbs brachyectrodactyly (C536564) |
| ........Trisomy 18-Like Syndrome (C563382) |
| ........Tsukahara Syndrome (C566376) |
| ........Ulnar-mammary syndrome (C536937) |
| ........Urioste Martinez-Frias syndrome (C536478) |
| ........Urogenital adysplasia (C536481) |
| ........Uropathy distal obstructive polydactyly (C536483) |
| ........Uruguay Faciocardiomusculoskeletal Syndrome (C564544) |
| ........Van der Woude syndrome (C536528) 1 |
| ........Van der Woude syndrome 2 (C536529) |
| ........Van Maldergem Wetzburger Verloes syndrome (C536530) |
| ........Velofacioskeletal syndrome (C536536) |
| ........Verloove-Vanhorick Brubakk syndrome (C536541) |
| ........Vohwinkel syndrome (C536457) |
| ........Waardenburg Syndrome (D014849) 13 |
| ........Walbaum Titran Durieux Crepin syndrome (C536566) |
| ........Warburg Sjo Fledelius syndrome (C536681) |
| ........Weaver syndrome (C536687) |
| ........Weaver-Like Syndrome (C562443) |
| ........Weill-Marchesani Syndrome (D056846) |
| ........Weyers acrofacial dysostosis (C536695) |
| ........Weyers ulnar ray/oligodactyly syndrome (C536696) |
| ........White forelock with malformations (C536700) |
| ........Wiedemann Grosse Dibbern syndrome (C536704) |
| ........Winchester syndrome (C536709) |
| ........Winter Harding Hyde syndrome (C536712) |
| ........Wolf-Hirschhorn Syndrome (D054877) |
| ........Wolfram Syndrome (D014929) 1 |
| ........Woolly hair, hypotrichosis, everted lower lip and outstanding ears (C536746) |
| ........WT limb blood syndrome (C536751) |
| ........XK aprosencephaly (C536767) |
| ........Yemenite deaf-blind hypopigmentation syndrome (C536771) |
| ........Yim Ebbin syndrome (C536713) |
| ........Zadik Barak Levin syndrome (C536721) |
| ........Zechi-Ceide Syndrome (C567865) |
| ........Zellweger Syndrome (D015211) 3 |
| ........Zimmerman Laband syndrome (C536725) |
Sister Nodes: |
..Abnormalities, Drug-Induced (D000014) 8
|
..Abnormalities, Multiple (D000015) 715
|
..Abnormalities, Radiation-Induced (D000016)
|
..Abnormalities, Severe Teratoid (D009008) 6
|
..Absent breasts and nipples (C535565)
|
..Accessory pancreas (C536003)
|
..AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency (C563876)
|
..Aicardi Syndrome (D058540) 1
|
..Arrhinia (C537438)
|
..Atlanto-Axial Fusion (C538196)
|
..Aural Atresia, Congenital (C564321)
|
..Bile and Pancreatic Ducts, Complete Absence of (C564298)
|
..Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
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..Cardiovascular Abnormalities (D018376) 331
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..Caudal Duplication Anomaly (C564315)
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..Chromosome Disorders (D025063) 160
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..Congenital Microtia (D065817) 12
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..Crane-Heise syndrome (C536452)
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..Cryptotia, Familial (C565140)
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..Deal Barratt Dillon syndrome (C538206)
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..Digestive System Abnormalities (D004065) 78
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..Eye Abnormalities (D005124) 208
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..Gallbladder, Agenesis Of (C562564)
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..Hereditary renal agenesis (C536482)
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..Hernias, Diaphragmatic, Congenital (D065630) 7
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..Hydrocephalus, Skeletal Anomalies, and Mental Disturbance (C563413)
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..Laryngeal cleft (C537875)
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..Laryngeal Web, Familial (C563636)
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..Lymphatic Abnormalities (D044148) 10
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..Mullerian aplasia (C537371) 1
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..Musculoskeletal Abnormalities (D009139) 1165
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..Nasal Bones, Absence of (C562753)
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..Nervous System Malformations (D009421) 567
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..Pancreas agenesis, dorsal (C538109)
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..Patterson Stevenson syndrome (C536311) 1
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..Renal and Mullerian Duct Hypoplasia (C564853)
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..Respiratory System Abnormalities (D015619) 27
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..Rhiny (C566708)
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..Saito Kuba Tsuruta syndrome (C537226)
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..Schlegelberger Grote syndrome (C536635)
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..Situs Inversus (D012857) 19
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..Skin Abnormalities (D012868) 358
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..Sprengel deformity (C535802)
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..Stomatognathic System Abnormalities (D018640) 329
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..Stridor, Congenital (C563163)
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..Thyroid Dysgenesis (D050033) 3
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..Urogenital Abnormalities (D014564) 196
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..Vagina, absence of (C536523)
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..Vertebral fusion posterior lumbosacral blepharoptosis (C536344)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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