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DO Term : autosomal recessive cutis laxa type IIIB [DOID:0070138] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.

synonyms:
ICD10CM:Q82.8,
De Barsy syndrome B,
614438,
ARCL3B,
OMIM:614438

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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