Search Ontology:
Human Disease
linear skin defects with multiple congenital anomalies 1
- Term ID
- DOID:0111808
- Synonyms
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- 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
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- MESH:C537466
- MIM:309801
- SNOMEDCT_US_2021_09_01:721879006
- Ontology
- Human Disease ( DOID:0111808 )
- is a type of
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Genes Involved
Zebrafish Models