Multiple synostoses syndrome 3

Preferred Label : Multiple synostoses syndrome 3;

Symbol : SYNS3;

CISMeF acronym : SYNS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor 9 gene (FGF9, 600921.0001);

Prefixed ID : #612961;

Détails

Origin ID

612961;

UMLS CUI

C2751826;

Broader ORDO disease(s)
- Multiple synostoses syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- multiple synostoses syndrome 3 [MeSH concept]
- multiple synostoses syndrome 3 [MeSH Supplementary Concept]
DO Cross reference
- multiple synostoses syndrome [DO Concept]
Genes related to phenotype
- Fibroblast growth factor 9 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Broad hallux [HPO term]
- Broad thumb [HPO term]
- Cleft palate [HPO term]
- Cubitus valgus [HPO term]
- Cutaneous syndactyly of toes [HPO term]
- Dolichocephaly [HPO term]
- Hallux varus [HPO term]
- Humeroradial synostosis [HPO term]
- Limited interphalangeal movement [HPO term]
- Metacarpal synostosis [HPO term]
- Metatarsal synostosis [HPO term]
- Proptosis [HPO term]
ORDO concept(s)
- Multiple synostoses syndrome [ORDO Disease]
See also inter- (CISMeF)
- FGF9 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- multiple synostoses syndrome 3 [MeSH Supplementary Concept]
- multiple synostoses syndrome 3 [MeSH concept]
Validated automatic mappings to NTBT
- Multiple synostoses syndrome [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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