| Metadata | |
|---|---|
| ID | DOID:0111808 |
| Name | linear skin defects with multiple congenital anomalies 1 |
| 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 |
| Xrefs |
SNOMEDCT_US_2021_09_01:721879006 |
| Synonyms |
MCOPS7 [EXACT] Microphthalmia with linear skin defect syndrome [EXACT] microphthalmia-dermal aplasia-sclerocornea syndrome [EXACT] MIDAS syndrome [EXACT] syndromic microphthalmia 7 [EXACT] syndromic microphthalmia type 7 [EXACT] |
| Parent Relationships |
is_a MLS syndrome is_a physical disorder |