Peters-Plus Syndrome

Preferred Label : Peters-Plus Syndrome;

NCIt definition : A rare, autosomal recessive inherited syndrome caused by mutations in the B3GALTL gene. It is characterized by abnormalities in the anterior chamber of the eye, short stature, cleft lip with or without cleft palate, distinctive facial features, and intellectual disability.;

Details

Origin ID

C123436;

UMLS CUI

C0796012;

Currated CISMeF NLP mapping
- Krause-Kivlin syndrome [MeSH Supplementary Concept]
- Krause-Kivlin syndrome [MeSH concept]
- Peters plus syndrome [ORDO Disease]
- Peters plus syndrome [DO Concept]
- Peters plus syndrome (disorder) [SNOMED CT concept]
- Peters-plus syndrome [OMIM Phenotype]
- Peters-plus syndrome [ICD-11 More detail]
- Peters-plus syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Krause-Kivlin syndrome [MeSH Supplementary Concept]
- Krause-Kivlin syndrome [MeSH concept]
- Peters plus syndrome [ORDO Disease]
- Peters plus syndrome [DO Concept]
- Peters plus syndrome (disorder) [SNOMED CT concept]
- Peters-plus syndrome [OMIM Phenotype]
- Peters-plus syndrome [Disease (Nov.)]
- Peters-plus syndrome [ICD-11 More detail]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- B3GLCT Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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