Bartsocas-Papas Syndrome

Preferred Label : Bartsocas-Papas Syndrome;

NCIt synonyms : Autosomal Recessive Popliteal Pterygium Syndrome; BPS;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the RIPK4 gene, encoding receptor-interacting serine/threonine-protein kinase 4. It is characterized by popliteal pterygia, ankyloblepharon, cleft lip/palate, and syndactyly. Early lethality is common.;

Details

Origin ID

C168990;

UMLS CUI

C1849718;

Currated CISMeF NLP mapping
- Autosomal recessive popliteal pterygium syndrome (disorder) [SNOMED CT concept]
- Bartsocas Papas syndrome [Disease (Nov.)]
- Bartsocas-Papas syndrome [ICD-11 More detail]
- Bartsocas-Papas syndrome [PASCAL descriptor]
- Bartsocas-Papas syndrome [ORDO Disease]
- Bartsocas-papas syndrome 1 [OMIM Phenotype]
- popliteal pterygium syndrome, lethal type [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive popliteal pterygium syndrome (disorder) [SNOMED CT concept]
- Bartsocas Papas syndrome [Disease (Nov.)]
- Bartsocas-Papas syndrome [ORDO Disease]
- Bartsocas-Papas syndrome [PASCAL descriptor]
- Bartsocas-papas syndrome 1 [OMIM Phenotype]
- Multiple pterygium syndrome, Aslan type [ORDO Disease]
- popliteal pterygium syndrome, lethal type [MeSH Supplementary Concept]
- popliteal pterygium syndrome, lethal type [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- RIPK4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients