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:
expandCataract (D002386)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandHearing Loss, Sensorineural (D006319)
Parent Node:
expandHypertrichosis (D006983)
..Starting node
..expandSchaap Taylor Baraitser syndrome (C536626)

       Child Nodes:



 Sister Nodes: 
..expandAcromegaloid facial appearance syndrome (C535655)
..expandAmaurosis hypertrichosis (C536604)
..expandAmbras syndrome (C536605)
..expandBarber Say syndrome (C537908)
..expandCAHMR syndrome (C537959)
..expandCantu syndrome (C535572)
..expandCervical hypertrichosis neuropathy (C537956)
..expandCervical Hypertrichosis with Underlying Kyphoscoliosis (C566142)
..expandCongenital hypertrichosis lanuginosa (C538389)
..expandFacial Hypertrichosis (C565029)
..expandFibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
..expandGorlin Chaudhry Moss syndrome (C537290)
..expandHairy Ears (C562484)
..expandHairy Ears, Y-Linked (C564029)
..expandHairy elbows (C535618)
..expandHairy nose tip (C535619)
..expandHypertrichosis congenital generalized X-linked (C538388)
..expandHypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia (C565016)
..expandHypertrichosis, anterior cervical (C538390)
..expandHypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy (C565492)
..expandHypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features (C538391)
..expandMidphalangeal hair (C537471)
..expandMuller Barth Menger syndrome (C537370)
..expandOliver-McFarlane syndrome (C536554)
..expandRamon Syndrome (C535285)
..expandSchaap Taylor Baraitser syndrome (C536626)
..expandWiedemann Grosse Dibbern syndrome (C536704)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10012
Name:Schaap Taylor Baraitser syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D002386|MESH:D006130|MESH:D006319|MESH:D006983
TreeNumbers:C09.218.458.341.887/C536626 |C10.597.751.418.341.887/C536626 |C11.510.245/C536626 |C17.800.329.875/C536626 |C23.550.393/C536626 |C23.888.592.763.393.341.887/C536626
Synonyms:Cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature
Slim Mappings:Ear-nose-throat disease|Eye disease|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease
Reference: MedGen: C536626
MeSH: C536626
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants