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DO Term : autosomal recessive congenital ichthyosis [DOID:0060655] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.

synonyms:
ORDO:281097,
OMIM:PS242300,
ARCI,
SNOMEDCT_US_2023_03_01:12215009,
non bullous congenital ichthyosiform erythroderma,
NCI:C84805,
ICD10CM:Q80.2,
lamellar ichthyosis,
UMLS_CUI:C0079154,
DOID:1699,
MESH:D017490,
PS242300

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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