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General Information
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| Term |
linear skin defects with multiple congenital anomalies 1 |
ID (Ontology) |
DOID:0111808 (Human Disease) |
| 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. |
| Also Known As |
"MCOPS7" ; "Microphthalmia with linear skin defect syndrome" ; "microphthalmia-dermal aplasia-sclerocornea syndrome" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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linear skin defects with multiple congenital anomalies 1 | 1 | for disease ribbon | linear skin defects with multiple congenital anomalies 1 | 1 | model of | linear skin defects with multiple congenital anomalies 1 | 1 |
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Relationships