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Metadata
ID DOID:14744
Name Partington syndrome
Definition A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria.
https://www.ncbi.nlm.nih.gov/pubmed/23622180, http://ghr.nlm.nih.gov/condition/partington-syndrome
Xrefs

GARD:4235

MESH:C562446

MIM:309510

ORDO:94083

UMLS_CUI:C0220775

Subsets

DO_rare_slim

Synonyms

X-linked Russell-Silver syndrome [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a syndromic X-linked intellectual disability

Subclass Logical Relationships

has material basis in some X-linked recessive inheritance

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