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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 | | Disease Causing ClinVar Variants | |
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