Pallister-hall syndrome

Preferred Label : Pallister-hall syndrome;

Symbol : PHS;

CISMeF acronym : PHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly;

Description : Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the GLI-Kruppel family member 3 gene (GLI3, 165240.0002);

Prefixed ID : #146510;

Détails

Origin ID

146510;

UMLS CUI

C0265220;

Automatic exact mappings (from CISMeF team)
- Finding of pH (finding) [SNOMED CT concept]
- GLI3 wt Allele [NCIt concept]
- Hydrogen ion concentration (observable entity) [SNOMED CT concept]
- Pallister-Hall syndrome [ICD-11 More detail]
- Philadelphia Chromosome [NCIt concept]
- Philippines [NCIt concept]
- pH NOS [MedDRA LLT]
- ph+ (qualifier value) [SNOMED CT concept]
- ph++ (qualifier value) [SNOMED CT concept]
- ph+++ (qualifier value) [SNOMED CT concept]
- physiology [MeSH Descriptor]
- primary head sinus [UBERON concept]
- symbol withdrawn PHS [HGNC gene]
Currated CISMeF NLP mapping
- Pallister Hall syndrome [Disease (Nov.)]
- Pallister-Hall Syndrome [NCIt concept]
- 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 [SNOMED Notion]
DO Cross reference
- Pallister-Hall syndrome [DO Concept]
Genes related to phenotype
- Gli-kruppel family member 3 [OMIM gene]
HPO term(s)
- Abnormal lung lobation [HPO term]
- Adrenal hypoplasia [HPO term]
- Anal atresia [HPO term]
- Anteriorly placed anus [HPO term]
- Anteverted nares [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid epiglottis [HPO term]
- Bifid or hypoplastic epiglottis [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Cryptorchidism [HPO term]
- Decreased circulating cortisol level [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Decreased testicular size [HPO term]
- Depressed nasal bridge [HPO term]
- Distal shortening of limbs [HPO term]
- Distal urethral duplication [HPO term]
- Ectopic kidney [HPO term]
- Flattened nasal bridge [HPO term]
- Global developmental delay [HPO term]
- Hemivertebrae [HPO term]
- Hip dislocation [HPO term]
- Holoprosencephaly [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Hypocortisolemia [HPO term]
- Hypoplasia of the epiglottis [HPO term]
- Hypothalamic hamartoma [HPO term]
- Intrauterine growth retardation [HPO term]
- Laryngeal cleft [HPO term]
- Mesoaxial foot polydactyly [HPO term]
- Mesoaxial hand polydactyly [HPO term]
- Mesomelia [HPO term]
- Microglossia [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Microtia [HPO term]
- Microtia [HPO term]
- Midline facial capillary hemangioma [HPO term]
- Nail dysplasia [HPO term]
- Natal tooth [HPO term]
- Neonatal death [HPO term]
- Oligodactyly [HPO term]
- Panhypopituitarism [HPO term]
- Patent ductus arteriosus [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Posteriorly rotated ears [HPO term]
- Precocious puberty [HPO term]
- Preductal coarctation of the aorta [HPO term]
- Radial head subluxation [HPO term]
- Renal cyst [HPO term]
- Renal dysplasia [HPO term]
- Renal hypoplasia [HPO term]
- Rib fusion [HPO term]
- Seizure [HPO term]
- Short 4th metacarpal [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Syndactyly [HPO term]
- Thyroid dysgenesis [HPO term]
- Toe syndactyly [HPO term]
- Variable expressivity [HPO term]
- Ventricular septal defect [HPO term]
- Y-shaped metacarpals [HPO term]
Not associated HPO term(s)
- Preaxial polydactyly [HPO term]
ORDO concept(s)
- Pallister-Hall syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pallister Hall syndrome [Disease (Nov.)]
- Pallister-Hall Syndrome [NCIt concept]
- Pallister-Hall syndrome [ORDO Disease]
- Pallister-Hall syndrome [MeSH Descriptor]
- Pallister-Hall syndrome [MeSH concept]
- Pallister-Hall syndrome [DO Concept]
- Pallister-Hall syndrome [PASCAL descriptor]
- Pallister-Hall syndrome [MedDRA Preferred Term]
- Pallister-Hall syndrome (disorder) [SNOMED CT concept]
- pallister-hall syndrome [SNOMED Notion]

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