autosomal recessive cutis laxa type IIB Disease Ontology Browser

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Disease Ontology Browser

autosomal recessive cutis laxa type IIB (DOID:0070137)
Alliance: disease page
Synonyms: ARCL2, progeroid type; ARCL2B
Alt IDs: OMIM:612940, ICD10CM:Q82.8, ORDO:357064
Definition: 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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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