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General Information
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| Term |
intellectual developmental disorder with ocular anomalies and distinctive facial features |
ID (Ontology) |
DOID:0081301 (Human Disease) |
| Definition |
A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22. |
| Also Known As |
"IDDOF" ; "MTSS2-related neurodevelopmental disorder" |
| Comment |
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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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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 3 | | Human Disease Models (FBhh) | DOID | 1 |
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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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| Alleles | Genes | Human Disease Models |
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intellectual developmental disorder with ocular anomalies and distinctive facial features | 3 | 2 | 1 | ameliorates | intellectual developmental disorder with ocular anomalies and distinctive facial features | 1 | -- | -- | for disease ribbon | intellectual developmental disorder with ocular anomalies and distinctive facial features | -- | 1 | -- | model of | intellectual developmental disorder with ocular anomalies and distinctive facial features | 2 | 1 | -- |
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Relationships