Disease Browser
|
Parent Node: Abnormalities, Multiple (D000015) |
..Starting node ..Flat umbilicus familial (C537059)
|
Child Nodes:
|
Sister 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)
|
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
|