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DO Term : autosomal recessive cutis laxa type IA [DOID:0070135] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.

synonyms:
ARCL1A,
ICD10CM:Q82.8,
219100,
OMIM:219100

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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