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DO Term : syndromic X-linked intellectual disability Siderius type [DOID:0060812] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22.

synonyms:
Siderius X-linked mental retardation syndrome,
300263,
MESH:C537333,
MRXSSD,
ORDO:85287,
OMIM:300263,
UMLS_CUI:C1846055,
Siderius-Hamel syndrome,
mental retardation syndrome, X-linked, Siderius type

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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