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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: ARCL2, progeroid type, ARCL2B,
Echinobase Genes :
MIM:612940 - cutis laxa, autosomal recessive, type iib; arcl2b |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
cutis laxa (is_a)