Preferred Name |
ichthyosis vulgaris |
Synonyms |
Dominant congenital ichthyosiform erythroderma |
Definitions |
An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface. OMIM mapping confirmed by DO. [SN]. |
ID |
http://purl.obolibrary.org/obo/DOID_1702 |
comment |
OMIM mapping confirmed by DO. [SN]. |
database_cross_reference |
NCI:C84778 OMIM:146700 GARD:6752 UMLS_CUI:C0079584 SNOMEDCT_US_2020_03_01:205551004 MESH:D016112 ICD10CM:Q80.0 |
has exact synonym |
Dominant congenital ichthyosiform erythroderma |
id |
DOID:1702 |
in_subset | |
label |
ichthyosis vulgaris |
notation |
DOID:1702 |
prefLabel |
ichthyosis vulgaris |
textual definition |
An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface. |
引自 | |
有_obo_命名空间 |
disease_ontology |
subClassOf |