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. |
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ID |
http://purl.obolibrary.org/obo/DOID_0060655 |
|
alternative label |
lamellar ichthyosis ARCI non bullous congenital ichthyosiform erythroderma |
|
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 |
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in_subset | ||
label |
autosomal recessive congenital ichthyosis |
|
notation |
DOID:0060655 |
|
note |
An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. |
|
preferred label |
autosomal recessive congenital ichthyosis |
|
prefLabel |
autosomal recessive congenital ichthyosis |
|
subClassOf |
http://purl.obolibrary.org/obo/DOID_1697 |