Pallister-Hall Syndrome

Preferred Label : Pallister-Hall Syndrome;

NCIt related terms : Hypothalamic Hamartoblastoma Syndrome; Ano-cerebro-digital Syndrome;

NCIt definition : A very rare autosomal dominant inherited disorder caused by mutations in the GLI3 gene. It is characterized by a spectrum of abnormalities which include polydactyly, cutaneous syndactyly, bifid epiglottis, hypothalamic hamartoma, and laryngotracheal cleft.;

Alternative definition : NICHD: A syndrome caused by dominant negative mutations in the GLI3 gene, encoding the transcriptional activator GLI3. The condition is characterized by a spectrum of clinical features including hypothalamic hamartoma, hypopituitarism, bifid epiglottis, laryngotracheal cleft, polydactyly, and cutaneous syndactyly.;

Details

Origin ID

C84987;

UMLS CUI

C0265220;

Automatic exact mappings (from CISMeF team)
- Pallister-Hall syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Pallister Hall syndrome [Disease (Nov.)]
- Pallister-Hall syndrome [PASCAL descriptor]
- Pallister-Hall syndrome [DO Concept]
- Pallister-Hall syndrome [MeSH Descriptor]
- Pallister-Hall syndrome [MeSH concept]
- Pallister-Hall syndrome [ORDO Disease]
- Pallister-Hall syndrome (disorder) [SNOMED CT concept]
- Pallister-hall syndrome [OMIM Phenotype]
- pallister-hall syndrome [SNOMED Notion]
DO Cross reference
- Pallister-Hall syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pallister Hall syndrome [Disease (Nov.)]
- Pallister-Hall syndrome [ORDO Disease]
- Pallister-Hall syndrome [PASCAL descriptor]
- Pallister-Hall syndrome [DO Concept]
- Pallister-Hall syndrome [MedDRA Preferred Term]
- Pallister-Hall syndrome [MeSH concept]
- Pallister-Hall syndrome [MeSH Descriptor]
- Pallister-Hall syndrome (disorder) [SNOMED CT concept]
- Pallister-hall syndrome [OMIM Phenotype]
- pallister-hall syndrome [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GLI3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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