autosomal recessive cutis laxa type IC

Summary

DOID:0070139 - autosomal recessive cutis laxa type IC

Disease Ontology Definition:A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.

Synonyms: autosomal recessive cutis laxa type 1C, ARCL1C

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

: ltbp4

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013170 - cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

MONDO:0013170 - cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

MIM:

MIM:613177 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC; ARCL1C

MIM:613177 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC; ARCL1C

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

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

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