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DO Term : autosomal recessive cutis laxa type IIA [DOID:0070134] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.
  • synonyms:
  • ICD10CM:Q82.8,
  • OMIM:219200,
  • 219200,
  • ARCL2A
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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