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]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_1702 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
Dominant congenital ichthyosiform erythroderma |
|
| database_cross_reference |
ICD10CM:Q80.0 MESH:D016112 UMLS_CUI:C0079584 SNOMEDCT_US_2023_03_01:205551004 GARD:6752 MIM:146700 NCI:C84778 |
|
| 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. OMIM mapping confirmed by DO. [SN]. |
|
| 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 |
|
| note |
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]. |
|
| preferred label |
ichthyosis vulgaris |
|
| prefLabel |
ichthyosis vulgaris |
|
| subClassOf |