Curry-jones syndrome

Preferred Label : Curry-jones syndrome;

Symbol : CRJS;

CISMeF acronym : CRJS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development;

Inheritance : Somatic mosaicism;

Molecular basis : Caused by somatic mosaic mutation in the smoothened, frizzled class receptor gene (SMOH, 601500.0001);

Neoplasia : Desmoplastic medulloblastoma of cerebellum (rare);

Prefixed ID : #601707;

Détails

Origin ID

601707;

UMLS CUI

C0795915;

Automatic exact mappings (from CISMeF team)
- Curry Jones syndrome (disorder) [SNOMED CT concept]
- SMO wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Curry-Jones syndrome [ORDO Disease]
- winter shortland temple syndrome [MeSH concept]
- winter shortland temple syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Smoothened, frizzled class receptor [OMIM gene]
HPO term(s)
- Abnormality of the skin [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anal stenosis [HPO term]
- Blepharophimosis [HPO term]
- Broad thumb [HPO term]
- Chiari type I malformation [HPO term]
- Chronic constipation [HPO term]
- Coloboma [HPO term]
- Craniosynostosis [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Cutaneous syndactyly of toes [HPO term]
- Duplication of thumb phalanx [HPO term]
- Facial asymmetry [HPO term]
- Global developmental delay [HPO term]
- Hemimegalencephaly [HPO term]
- Hirsutism [HPO term]
- Intestinal malrotation [HPO term]
- Megalencephaly [HPO term]
- Microphthalmia [HPO term]
- Polymicrogyria [HPO term]
- Preaxial hand polydactyly [HPO term]
- Somatic mosaicism [HPO term]
- Syndactyly [HPO term]
- Unilateral craniosynostosis [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Curry-Jones syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Curry Jones syndrome (disorder) [SNOMED CT concept]
- Curry-Jones syndrome [ORDO Disease]
- winter shortland temple syndrome [MeSH Supplementary Concept]
- winter shortland temple syndrome [MeSH concept]

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