Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandBrachydactyly (D059327)
Parent Node:
expandHirschsprung Disease (D006627)
..Starting node
..expandHirschsprung disease type d brachydactyly (C538319)

       Child Nodes:



 Sister Nodes: 
..expandAganglionosis, total intestinal (C538058)
..expandAl Gazali Hirschsprung syndrome (C535615)
..expandBrain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
..expandCartilage hair hypoplasia like syndrome (C535915)
..expandCartilage-hair hypoplasia (C535916)
..expandGoldberg-Shprintzen megacolon syndrome (C537279)
..expandHirschsprung disease 1 (C538540)
..expandHirschsprung disease ganglioneuroblastoma (C538119)
..expandHirschsprung disease polydactyly heart disease (C538120)
..expandHirschsprung disease type 3 (C538121)
..expandHirschsprung disease type d brachydactyly (C538319)
..expandHirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..expandHirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..expandHirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect (C565517)
..expandHirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction (C563939)
..expandLaurence Prosser Rocker syndrome (C537882)
..expandMowat-Wilson syndrome (C536990)
..expandPeripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..expandSantos Mateus Leal syndrome (C537235)
..expandWAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
..expandWaardenburg Syndrome, Type 4b (C567680)
..expandWaardenburg Syndrome, Type 4c (C567679)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5201
Name:Hirschsprung disease type d brachydactyly
Definition:
Alternative IDs:
ParentIDs:MESH:D006627|MESH:D059327
TreeNumbers:C05.660.585.262/C538319 |C06.198.439/C538319 |C06.405.469.158.701.439/C538319 |C16.131.314.439/C538319 |C16.131.621.585.262/C538319
Synonyms:Familial Hirschsprung's disease and type D brachydactyly |Hirschsprung Disease with Type D Brachydactyly
Slim Mappings:Congenital abnormality|Digestive system disease|Musculoskeletal disease
Reference: MedGen: C538319
MeSH: C538319
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants