ZFIN Human Disease: linear skin defects with multiple congenital anomalies 1

OBO ID: DOID:0111808

Term Name:	linear skin defects with multiple congenital anomalies 1		Search Ontology:
Synonyms:	MCOPS7 Microphthalmia with linear skin defect syndrome microphthalmia-dermal aplasia-sclerocornea syndrome MIDAS syndrome syndromic microphthalmia 7 syndromic microphthalmia type 7
Definition:	A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2. https://www.ncbi.nlm.nih.gov/pubmed/17033964
References:	MESH:C537466 OMIM:309801 SNOMEDCT_US_2021_09_01:721879006
Ontology:	Human Disease ( DOID:0111808 )

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 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
HCCS	hccsa.2 hccsa.1 hccsb	Linear skin defects with multiple congenital anomalies 1	309801

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None