Johanson-Blizzard Syndrome

Preferred Label : Johanson-Blizzard Syndrome;

NCIt synonyms : JBS;

NCIt definition : An extremely rare autosomal recessive condition caused by mutation(s) in the UBR1 gene, encoding E3 ubiquitin-protein ligase UBR1. It is characterized by failure to thrive, often due to pancreatic insufficiency, craniofacial abnormalities, and intellectual disability.;

Details

Origin ID

C210826;

Automatic exact mappings (from CISMeF team)
- Jacobsen syndrome [OMIM Phenotype]
Currated CISMeF NLP mapping
- Johanson Blizzard syndrome [MeSH concept]
- Johanson-Blizzard syndrome [ICD-11 More detail]
- Johanson-Blizzard syndrome [MedDRA Preferred Term]
- Johanson-Blizzard syndrome [DO Concept]
- Johanson-Blizzard syndrome [ORDO Disease]
- Johanson-Blizzard syndrome [Disease (Nov.)]
- Johanson-Blizzard syndrome (disorder) [SNOMED CT concept]
- Johanson-blizzard syndrome [OMIM Phenotype]
- johanson blizzard syndrome [MeSH Supplementary Concept]
- johanson-blizzard syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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