lethal congenital contracture syndrome 2

Summary

DOID:0060560 - lethal congenital contracture syndrome 2

Disease Ontology Definition:A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13.

Synonyms: LCCS2, multiple contracture syndrome, Israeli-Bedouin type

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

: erbb3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011868 - lethal congenital contracture syndrome 2

MONDO:0011868 - lethal congenital contracture syndrome 2

MIM:

MIM:607598 - LETHAL CONGENITAL CONTRACTURE SYNDROME 2; LCCS2

MIM:607598 - LETHAL CONGENITAL CONTRACTURE SYNDROME 2; LCCS2

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

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

Parent(s): lethal congenital contracture syndrome (is_a)