Pallister-hall-like syndrome

Preferred Label : Pallister-hall-like syndrome;

Symbol : PHLS;

CISMeF acronym : CHHS; PHLS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the frizzled class receptor smoothened gene (SMO, 601500.0004);

Prefixed ID : #241800;

Details

Origin ID

241800;

UMLS CUI

C5435677;

Automatic exact mappings (from CISMeF team)
- Congenital hypothalamic hamartoma syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Congenital hypothalamic hamartoma syndrome [ORDO Disease]
- Hypothalamic Hamartoma [NCIt concept]
- Hypothalamic hamartoma [MedDRA Preferred Term]
- Hypothalamic hamartomas [MeSH concept]
- hypothalamic hamartomas [MeSH Supplementary Concept]
Genes related to phenotype
- Smoothened, frizzled class receptor [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Anterior hypopituitarism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Death in infancy [HPO term]
- Depressed nasal bridge [HPO term]
- Flattened nasal bridge [HPO term]
- Glioma [HPO term]
- Hip dislocation [HPO term]
- Hydrocephalus [HPO term]
- Hypothalamic hamartoma [HPO term]
- Macrocephaly [HPO term]
- Median cleft lip [HPO term]
- Microglossia [HPO term]
- Micrognathia [HPO term]
- Micromelia [HPO term]
- Micropenis [HPO term]
- Occipital encephalocele [HPO term]
- Postaxial hand polydactyly [HPO term]
- Posterior encephalocele [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renal dysplasia [HPO term]
- Short nose [HPO term]
- Short ribs [HPO term]
- Skeletal dysplasia [HPO term]
ORDO concept(s)
- Congenital hypothalamic hamartoma syndrome [ORDO Disease]
See also inter- (CISMeF)
- Hypothalamic hamartoma [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital hypothalamic hamartoma syndrome [ORDO Disease]
- Hamartoma of hypothalamus (disorder) [SNOMED CT concept]
- Hypothalamic Hamartoma [NCIt concept]
- Hypothalamic hamartoma [HPO term]
- Hypothalamic hamartoma [MedDRA Preferred Term]
- Hypothalamic hamartomas [MeSH concept]
- hypothalamic hamartomas [MeSH Supplementary Concept]

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