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DO Term : syndromic X-linked intellectual disability type 10 [DOID:0060810] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22.

synonyms:
HSD10 disease, atypical type,
HSD10 deficiency, atypical type,
ORDO:85295,
300438,
OMIM:300438,
MRXS10,
ICD10CM:G25.5,
mental retardation, X-linked syndromic 10,
X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome

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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