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DO Term : ZTTK syndrome [DOID:0060953] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22.

synonyms:
ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME,
Zhu-Tokita-Takenouchi-Kim syndrome,
ORDO:500150,
617140,
UMLS_CUI:C4310696,
GARD:13489,
OMIM:617140

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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