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:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandBlindness (D001766)
Parent Node:
expandDeafness (D003638)
Parent Node:
expandHypopigmentation (D017496)
..Starting node
..expandYemenite deaf-blind hypopigmentation syndrome (C536771)

       Child Nodes:



 Sister Nodes: 
..expandAlbinism (D000417) Child30
..expandExternal Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..expandHernandez Fragoso syndrome (C536062)
..expandHYPOMELANOSIS OF ITO (OMIM:300337)
..expandLeukonychia totalis (C535889)
..expandRaindrop Hypopigmentation (C566724)
..expandVitiligo (D014820) Child11
..expandYemenite deaf-blind hypopigmentation syndrome (C536771)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:11853
Name:Yemenite deaf-blind hypopigmentation syndrome
Definition:
Alternative IDs:OMIM:601706
ParentIDs:MESH:D000015|MESH:D001766|MESH:D003638|MESH:D017496
TreeNumbers:C09.218.458.341.186/C536771 |C10.597.751.418.341.186/C536771 |C10.597.751.941.162/C536771 |C11.966.075/C536771 |C16.131.077/C536771 |C17.800.621.440/C536771 |C23.888.592.763.393.341.186/C536771 |C23.888.592.763.941.162/C536771
Synonyms:Warburg Thomsen syndrome |Yemenite (Warburg) deaf-blind hypopigmentation syndrome
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Eye disease|Nervous system disease|Signs and symptoms|Skin disease
Reference: MedGen: C536771
MeSH: C536771
OMIM: 601706;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000567Chorioretinal coloboma
3 HP:0000612Iris coloboma
4 HP:0000482Microcornea
5 HP:0007587Numerous pigmented freckles
6 HP:0000639Nystagmus
7 HP:0007509Patchy hypo- and hyperpigmentation
8 HP:0008625Severe sensorineural hearing impairment
9 HP:0002211White forelock
Disease Causing ClinVar Variants