autosomal recessive cutis laxa type IIIB

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Summary

Literature (0)

DOID:0070138 - autosomal recessive cutis laxa type IIIB

Disease Ontology Definition:An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.

Synonyms: ARCL3B, De Barsy syndrome B

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:0013755 - arterial blood

MONDO:0013755 - arterial blood

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

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

Parent(s): autosomal recessive cutis laxa type III (is_a)