Renpenning Syndrome

Preferred Label : Renpenning Syndrome;

NCIt synonyms : Mental Retardation, X-Linked, Renpenning Type;

NCIt definition : An X-linked recessive disorder caused by mutation(s) in the PQBP1 gene, encoding polyglutamine-binding protein 1. It is characterized by moderate to severe intellectual disability, developmental delay and characteristic dysmorphic features, which may include short stature, microcephaly, and a narrow face.;

Details

Origin ID

C165533;

UMLS CUI

C0796135;

Currated CISMeF NLP mapping
- Renpenning syndrome [ORDO Disease]
- Renpenning syndrome [DO Concept]
- Renpenning syndrome [ICD-11 More detail]
- Renpenning syndrome (disorder) [SNOMED CT concept]
- Renpenning syndrome 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Renpenning syndrome [ORDO Disease]
- Renpenning syndrome [DO Concept]
- Renpenning syndrome (disorder) [SNOMED CT concept]
- Renpenning syndrome 1 [OMIM Phenotype]
- Renpenning syndrome 1 [MeSH concept]
- renpenning syndrome 1 [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Renpenning syndrome 1 [MeSH concept]
- renpenning syndrome 1 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- PQBP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients