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General Information
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| Term |
syndromic X-linked intellectual disability Claes-Jensen type |
ID (Ontology) |
DOID:0060809 (Human Disease) |
| Definition |
A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11. |
| Also Known As |
"mental retardation, X-linked, syndromic, Claes-Jensen type" ; "MRXSCJ" ; "MRXSJ" (for all, see Synonyms field below) |
| 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 | 8 | | 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 Claes-Jensen type | 8 | 1 | 1 | for disease ribbon | syndromic X-linked intellectual disability Claes-Jensen type | -- | 1 | -- | model of | syndromic X-linked intellectual disability Claes-Jensen type | 8 | 1 | -- |
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Relationships