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DO Term : autosomal recessive cutis laxa type IC [DOID:0070139] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:784349004,
  • autosomal recessive cutis laxa type 1C,
  • ORDO:221145,
  • UMLS_CUI:C2750804,
  • MESH:C567716,
  • 613177,
  • ARCL1C,
  • OMIM:613177
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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