Search Ontology:
Human Disease
syndromic X-linked intellectual disability Hedera type
- Term ID
- DOID:0060806
- Synonyms
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- mental retardation, X-linked, syndromic, Hedera type
- MRXE
- MRXSH
- X-linked mental retardation with epilepsy
- Definition
- A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. (2)
- References
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- MIM:300423
- ORDO:93952
- Ontology
- Human Disease ( DOID:0060806 )
- is a type of
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Genes Involved
Zebrafish Models