Choanal atresia and lymphedema

Preferred Label : Choanal atresia and lymphedema;

Symbol : CATLPH;

CISMeF acronym : CATLPH;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protein-tyrosine phosphatase, nonreceptor-type, 14 gene (PTPN14, 603155.0001);

Prefixed ID : #613611;

Details

Origin ID

613611;

UMLS CUI

C3150875;

Currated CISMeF NLP mapping
- Lymphedema, posterior choanal atresia syndrome (disorder) [SNOMED CT concept]
- Lymphedema-posterior choanal atresia syndrome [ORDO Disease]
Genes related to phenotype
- Protein-tyrosine phosphatase, nonreceptor-type, 14 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Choanal atresia [HPO term]
- High palate [HPO term]
- Lymphedema [HPO term]
- Pericardial effusion [HPO term]
ORDO concept(s)
- Lymphedema-posterior choanal atresia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lymphedema, posterior choanal atresia syndrome (disorder) [SNOMED CT concept]

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