autosomal recessive cutis laxa type IIB

Summary

DOID:0070137 - autosomal recessive cutis laxa type IIB

Disease Ontology 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.

Synonyms: ARCL2B, ARCL2, progeroid type

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pycr1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013051 - autosomal recessive cutis laxa type 2B

MONDO:0013051 - autosomal recessive cutis laxa type 2B

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), cutis laxa (is_a)