Multiple synostoses syndrome 2

Preferred Label : Multiple synostoses syndrome 2;

Symbol : SYNS2;

CISMeF acronym : SYNS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the growth/differentiation factor-5 gene (GDF5, 601146.0011);

Prefixed ID : #610017;

Details

Origin ID

610017;

UMLS CUI

C1832708;

Broader ORDO disease(s)
- Multiple synostoses syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Multiple synostoses syndrome 2 [MeSH concept]
- multiple synostoses syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- multiple synostoses syndrome [DO Concept]
Genes related to phenotype
- Growth/differentiation factor 5 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Carpal synostosis [HPO term]
- Finger symphalangism [HPO term]
- Humeroradial synostosis [HPO term]
- Proximal symphalangism [HPO term]
- Talipes equinovarus [HPO term]
- Tarsal synostosis [HPO term]
- Vertebral fusion [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Multiple synostoses syndrome [ORDO Disease]
See also inter- (CISMeF)
- GDF5 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple synostoses syndrome 2 [MeSH concept]
- multiple synostoses syndrome 2 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Multiple synostoses syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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