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DO Term : autosomal recessive cutis laxa type IIB [DOID:0070137] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3.
  • synonyms:
  • ORDO:357064,
  • OMIM:612940,
  • ARCL2, progeroid type,
  • 612940,
  • ARCL2B,
  • ICD10CM:Q82.8
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Disease

Diseases --> Human genes

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Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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