Tetraamelia syndrome 2

Preferred Label : Tetraamelia syndrome 2;

Symbol : TETAMS2;

CISMeF acronym : TETAMS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tetraamelia syndrome 2 with pulmonary agenesis;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the R-spondin 2 gene (RSPO2, 610575.0001);

Prefixed ID : #618021;

Details

Origin ID

618021;

UMLS CUI

C4747923;

Automatic exact mappings (from CISMeF team)
- RSPO2 wt Allele [NCIt concept]
Genes related to phenotype
- R-spondin 2 [OMIM gene]
HPO term(s)
- Ankyloglossia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral cleft lip [HPO term]
- Glossoptosis [HPO term]
- Hypoplastic pulmonary veins [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Microretrognathia [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Tetraamelia-multiple malformations syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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