linear skin defects with multiple congenital anomalies 2

Summary

DOID:0111877 - linear skin defects with multiple congenital anomalies 2

Disease Ontology Definition:A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1.

Synonyms: aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies, APLCC, LSDMCA2

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

: cox7b

MIM:

MIM:300887 - LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2

MIM:300887 - LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2

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

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

Parent(s): MLS syndrome (is_a), physical disorder (is_a), X-linked dominant disease (is_a)