Medical Subject Headings

Last uploaded: November 5, 2019

Preferred Name	Pitt-Hopkins syndrome
Synonyms	Pitt Hopkins syndrome
ID	http://purl.bioontology.org/ontology/MESH/C537403
altLabel	Pitt Hopkins syndrome Encephalopathy, Severe Epileptic, With Autonomic Dysfunction Mental Retardation, Syndromal, With Intermittent Hyperventilation
cui	C1970431
HM	D006985 D008607 D019066
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D006985 http://purl.bioontology.org/ontology/MESH/D019066 http://purl.bioontology.org/ontology/MESH/D008607
MDA	20100825
MeSH Frequency	39
MMR	20150818
notation	C537403
prefLabel	Pitt-Hopkins syndrome
SC	3
Scope Statement	A developmental disorder characterized by intellectual disability, wide mouth and distinctive facies, and intermittent hyperventilation followed by APNEA. It is caused by de novo autosomal dominant mutations in the TCF4 gene. OMIM: 610954
TERMUI	T809650 T809651 T742473 T742474
TH	ORD (2010) OMIM (2013) GHR (2014)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/602272	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/610954	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/610954	Online Mendelian Inheritance in Man	LOOM
http://purl.obolibrary.org/obo/DOID_0060488	Human Disease Ontology 123	LOOM