ZFIN Human Disease: linear skin defects with multiple congenital anomalies 2

OBO ID: DOID:0111877

Term Name:	linear skin defects with multiple congenital anomalies 2		Search Ontology:
Synonyms:	aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies APLCC LSDMCA2
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. (2)
References:	OMIM:300887
Ontology:	Human Disease ( DOID:0111877 )

Relationships

is a type of:	MLS syndrome physical disorder X-linked dominant disease MLS syndrome physical disorder X-linked dominant disease Show first 5 Terms

OTHER linear skin defects with multiple congenital anomalies 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COX7B		Linear skin defects with multiple congenital anomalies 2

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)