Cherubism - CISMeF

Preferred Label : Cherubism;

CISMeF acronym : CRBM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CRBM;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SH3 domain-binding protein-2 gene (SH3BP2, 602104.0001);

Prefixed ID : #118400;

Details

Origin ID

118400;

UMLS CUI

C0008029;

Automatic exact mappings (from CISMeF team)
- Cherubism [ICD-11 Sub-sub category]
- Cherubism [ACR pathology]
- Other specified diseases of jaws [ICD-10 Sub-category (who)]
- SH3 domain binding protein 2 [ORDO Gene]
- SH3BP2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Cherubism [PASCAL descriptor]
- Cherubism [NCIt concept]
- Cherubism [ORDO Disease]
- Cherubism [MedDRA LLT]
- Fibrous dysplasia of jaw [MedDRA Preferred Term]
- Fibrous dysplasia of jaw (disorder) [SNOMED CT concept]
- cherubism [Disease (Nov.)]
- cherubism [DO Concept]
- cherubism [MeSH Descriptor]
- cherubism [MeSH concept]
- cherubism [Radlex concept]
- cherubism [SNOMED Notion]
- fibrous dysplasia of jaw [SNOMED Notion]
DO Cross reference
- cherubism [DO Concept]
Genes related to phenotype
- Sh3 domain-binding protein 2 [OMIM gene]
HPO term(s)
- Alveolar ridge overgrowth [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Constriction of peripheral visual field [HPO term]
- Dental malocclusion [HPO term]
- Jaw swelling [HPO term]
- Juvenile onset [HPO term]
- Lower eyelid retraction [HPO term]
- Macular scar [HPO term]
- Marcus Gunn pupil [HPO term]
- Multiple impacted teeth [HPO term]
- Narrow palate [HPO term]
- Oligodontia [HPO term]
- Onset 3 months of age up to 5 years [HPO term]
- Optic neuropathy [HPO term]
- Proptosis [HPO term]
- Reduced visual acuity [HPO term]
- Round face [HPO term]
- Submandibular lymph node enlargement [HPO term]
- Visual impairment [HPO term]
- Young adult onset [HPO term]
Not associated HPO term(s)
- Abnormality of alkaline phosphatase level [HPO term]
ORDO concept(s)
- Cherubism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cherubism [MedDRA LLT]
- Cherubism [ORDO Disease]
- Cherubism [NCIt concept]
- Cherubism [PASCAL descriptor]
- Fibrous dysplasia of jaw [MedDRA Preferred Term]
- Fibrous dysplasia of jaw (disorder) [SNOMED CT concept]
- cherubism [SNOMED Notion]
- cherubism [MeSH Descriptor]
- cherubism [MeSH concept]
- cherubism [Radlex concept]
- cherubism [DO Concept]
- cherubism [Disease (Nov.)]
- fibrous dysplasia of jaw [SNOMED Notion]

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