autosomal dominant cutis laxa 1

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Summary

Literature (0)

DOID:0070130 - autosomal dominant cutis laxa 1

Disease Ontology Definition:An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11.

Synonyms: ADCL1

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

: fbln5, eln1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007411 - cutis laxa, autosomal dominant 1

MONDO:0007411 - cutis laxa, autosomal dominant 1

MIM:

MIM:123700 - CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1

MIM:123700 - CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1

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

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

Parent(s): autosomal dominant cutis laxa (is_a)