linear skin defects with multiple congenital anomalies 1

Term ID

DOID:0111808

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 )