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DOID:0070133 - autosomal recessive cutis laxa type IB
Disease Ontology Definition:An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.
Synonyms: ARCL1B,
Xenbase Genes : efemp2
MONDO:0013754 - cutis laxa, autosomal recessive, type 1B |
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 I (is_a)