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:
expandHearing Loss, Sensorineural (D006319)
Parent Node:
expandPiebaldism (D016116)
..Starting node
..expandErmine phenotype (C535508)

       Child Nodes:



 Sister Nodes: 
..expandErmine phenotype (C535508)
..expandGriscelli syndrome type 1 (C537301)
..expandGriscelli syndrome type 2 (C537302)
..expandGriscelli syndrome type 3 (C537303)
..expandTelfer Sugar Jaeger syndrome (C536955)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3946
Name:Ermine phenotype
Definition:
Alternative IDs:
ParentIDs:MESH:D006319|MESH:D016116
TreeNumbers:C09.218.458.341.887/C535508 |C10.597.751.418.341.887/C535508 |C16.320.290.040.600/C535508 |C16.320.565.100.102.600/C535508 |C16.320.850.080.600/C535508 |C17.800.621.440.102.600/C535508 |C17.800.827.080.600/C535508 |C18.452.648.100.102.600/C535508 |C23.888.592.76
Synonyms:Cutaneous albinism hermine phenotype |O'Doherty syndrome |Pigmentary disorder with hearing loss
Slim Mappings:Ear-nose-throat disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms|Skin disease
Reference: MedGen: C535508
MeSH: C535508
OMIM: 227010;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001022Albinism
3 HP:0001256Intellectual disability, mild
4 HP:0000407Sensorineural hearing impairment
5 HP:0005585Spotty hyperpigmentation
6 HP:0001045Vitiligo
7 HP:0002226White eyebrow
8 HP:0002227White eyelashes
Disease Causing ClinVar Variants