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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 : pycr1
MONDO:0013755 - PYCR1-related de Barsy syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee