About: Renpenning syndrome

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	syndromic X-linked intellectual disability X-linked recessive disease nodeID://b50938421 nodeID://b50938422
label	Renpenning syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060179
created_by	lschriml
creation_date	2011-11-08T03:21:30Z
database_cross_reference	ICD10CM:Q87.5 OMIM:309500 ORDO:3242
has_exact_synonym	Golabi-Ito-Hall syndrome (en) X-linked intellectual disability, Renpenning type (en) X-linked mental retardation Renpenning type (en) X-linked mental retardation with spastic diplegia (en) syndromic X-linked mental retardation 8 (en) X-linked intellectual disability due to PQBP1 mutations (en) Sutherland-Haan X-linked mental retardation syndrome (en)
has_obo_namespace	disease_ontology
in_subset	DO_FlyBase_slim
http://purl.obolib...g/obo/IAO_0000115	An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938423

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