Pitt-Hopkins Syndrome

Preferred Label : Pitt-Hopkins Syndrome;

NCIt synonyms : PTHS;

NCIt definition : An autosomal dominant condition caused by mutation(s) on the TCF4 gene, encoding transcription factor 4. It is characterized by intellectual disability, developmental delay, breathing problems and seizures.;

Details

Origin ID

C129872;

UMLS CUI

C1970431;

Automatic exact mappings (from CISMeF team)
- PTEN hamartoma tumor syndrome [ORDO Disease]
- posterior nucleus of thalamus [UBERON concept]
Currated CISMeF NLP mapping
- Pitt Hopkins syndrome [Disease (Nov.)]
- Pitt-Hopkins syndrome [DO Concept]
- Pitt-Hopkins syndrome [MeSH Supplementary Concept]
- Pitt-Hopkins syndrome [ORDO Disease]
- Pitt-Hopkins syndrome [MeSH concept]
- Pitt-Hopkins syndrome [ICD-11 More detail]
- Pitt-Hopkins syndrome (disorder) [SNOMED CT concept]
- Pitt-hopkins syndrome [OMIM Phenotype]
DO Cross reference
- Pitt-Hopkins syndrome [DO Concept]
See also inter- (CISMeF)
- Pitt-Hopkins-like syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pitt Hopkins syndrome [Disease (Nov.)]
- Pitt-Hopkins syndrome [ORDO Disease]
- Pitt-Hopkins syndrome [DO Concept]
- Pitt-Hopkins syndrome [MeSH Supplementary Concept]
- Pitt-Hopkins syndrome [MeSH concept]
- Pitt-Hopkins syndrome (disorder) [SNOMED CT concept]
- Pitt-Hopkins-like syndrome [ORDO Disease]
- Pitt-hopkins syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- TCF4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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