loading...| Preferred Name |
autosomal recessive congenital ichthyosis |
|
| Synonyms |
lamellar ichthyosis ARCI non bullous congenital ichthyosiform erythroderma |
|
| Definitions |
An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0060655 |
|
| database_cross_reference |
ICD10CM:Q80.2 MIM:PS242300 SNOMEDCT_US_2023_03_01:12215009 MESH:D017490 UMLS_CUI:C0079154 ORDO:281097 NCI:C84805 |
|
| definition |
An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. |
|
| disease has basis in | ||
| has exact synonym |
lamellar ichthyosis ARCI non bullous congenital ichthyosiform erythroderma |
|
| has material basis in | ||
| has_alternative_id |
DOID:1699 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0060655 |
|
| in_subset | ||
| label |
autosomal recessive congenital ichthyosis |
|
| notation |
DOID:0060655 |
|
| prefLabel |
autosomal recessive congenital ichthyosis |
|
| subClassOf |
http://purl.obolibrary.org/obo/DOID_1697 |