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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/C537403
http://purl.bioontology.org/ontology/MESH/C537403
|
|---|---|
| Preferred Name | Pitt-Hopkins syndrome |
| Synonyms |
Mental Retardation, Syndromal, With Intermittent Hyperventilation
Pitt Hopkins syndrome
Encephalopathy, Severe Epileptic, With Autonomic Dysfunction
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Mental Retardation, Syndromal, With Intermittent Hyperventilation
Pitt Hopkins syndrome
Encephalopathy, Severe Epileptic, With Autonomic Dysfunction
|
|---|---|
| prefLabel | Pitt-Hopkins syndrome
|
| 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
|
| type | |
| tui | T047
|
| HM |
D006985
D008607
D019066
|
| SC | 3
|
| TERMUI |
T742474
T809650
T742473
T809651
|
| TH |
OMIM (2013)
GHR (2014)
ORD (2010)
|
| MMR | 20150818
|
| notation | C537403
|
| Semantic type UMLS property | |
| cui | C1970431
|
| MeSH Frequency | 83
|
| DSC | 20100825
|
| Inverse of RB | 0
|
| Mapped to | |
| MDA | 20100825
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |