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General Information
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| Term |
syndromic X-linked intellectual disability Snyder type |
ID (Ontology) |
DOID:0060802 (Human Disease) |
| Definition |
A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22. |
| Also Known As |
"mental retardation, X-linked, Snyder-Robinson type" ; "Snyder-Robinson mental retardation syndrome" ; "Snyder-Robinson 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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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 1 | | 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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syndromic X-linked intellectual disability Snyder type | 1 | 1 | 1 | for disease ribbon | syndromic X-linked intellectual disability Snyder type | -- | 1 | -- | model of | syndromic X-linked intellectual disability Snyder type | 1 | 1 | -- |
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Relationships