loading...| Preferred Name |
ichthyosis vulgaris |
| Synonyms |
Dominant congenital ichthyosiform erythroderma |
| Definitions |
An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) 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 SNOMEDCT_US_2022_09_01:205551004 UMLS_CUI:C0079584 MESH:D016112 ICD10CM:Q80.0 |
| definition |
An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface. |
| has exact synonym |
Dominant congenital ichthyosiform erythroderma |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:1702 |
| in_subset | |
| label |
ichthyosis vulgaris |
| notation |
DOID:1702 |
| prefLabel |
ichthyosis vulgaris |
| subClassOf |