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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
linear skin defects with multiple congenital anomalies 1
Summary
- Synonym
-
- MCOPS7
- MIDAS syndrome
- Microphthalmia with linear skin defect syndrome
- microphthalmia-dermal aplasia-sclerocornea 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.
- Super Class
- MLS syndrome X-linked dominant disease physical disorder
External Links
- Disease Ontology
- DOID:0111808
- Mondo Disease Ontology
- MeSH
- OMIM
