linear skin defects with multiple congenital anomalies 1

Summary

DOID:0111808 - linear skin defects with multiple congenital anomalies 1

Disease Ontology 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.

Synonyms: MCOPS7, microphthalmia-dermal aplasia-sclerocornea syndrome, Microphthalmia with linear skin defect syndrome, MIDAS syndrome, MLS syndrome, syndromic microphthalmia 7, syndromic microphthalmia type 7

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

: hccs, cox7b

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), syndromic microphthalmia (is_a)