Culler-jones syndrome

Preferred Label : Culler-jones syndrome;

Symbol : CJS;

CISMeF acronym : CJS; PHS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pallister-hall syndrome 2; PHS2;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the GLI-kruppel family member 2 gene (GLI2, 165230.0008);

Prefixed ID : #615849;

Details

Origin ID

615849;

UMLS CUI

C4014479;

Automatic exact mappings (from CISMeF team)
- Culler-Jones syndrome [DO Concept]
- GLI2 wt Allele [NCIt concept]
- PTGS2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome [ORDO Disease]
DO Cross reference
- Culler-Jones syndrome [DO Concept]
Genes related to phenotype
- Gli-kruppel family member 2 [OMIM gene]
HPO term(s)
- Anterior pituitary hypoplasia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Cryptorchidism [HPO term]
- Diabetes insipidus [HPO term]
- Ectopic posterior pituitary [HPO term]
- Global developmental delay [HPO term]
- Hypogonadism [HPO term]
- Hypopituitarism [HPO term]
- Hypotelorism [HPO term]
- Incomplete penetrance [HPO term]
- Micropenis [HPO term]
- Midface retrusion [HPO term]
- Postaxial polydactyly [HPO term]
- Short stature [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome [ORDO Disease]

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