Coffin-Lowry Syndrome

Preferred Label : Coffin-Lowry Syndrome;

NCIt definition : An inherited syndrome caused by mutations in the RPS6KA3 gene. It is characterized by mental retardation, developmental delay, microcephaly, short stature and kyphoscoliosis.;

Details

Origin ID

C84643;

UMLS CUI

C0265252;

Currated CISMeF NLP mapping
- Coffin Lowry syndrome [Disease (Nov.)]
- Coffin-Lowry syndrome [PASCAL descriptor]
- Coffin-Lowry syndrome [DO Concept]
- Coffin-Lowry syndrome [ICD-11 More detail]
- Coffin-Lowry syndrome [MedDRA Preferred Term]
- Coffin-Lowry syndrome [MeSH Descriptor]
- Coffin-Lowry syndrome [MeSH concept]
- Coffin-Lowry syndrome [ORDO Disease]
- Coffin-Lowry syndrome (disorder) [SNOMED CT concept]
- Coffin-lowry syndrome [OMIM Phenotype]
- coffin-lowry syndrome [SNOMED Notion]
DO Cross reference
- Coffin-Lowry syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Coffin Lowry syndrome [Disease (Nov.)]
- Coffin-Lowry syndrome [ORDO Disease]
- Coffin-Lowry syndrome [PASCAL descriptor]
- Coffin-Lowry syndrome [DO Concept]
- Coffin-Lowry syndrome [MedDRA Preferred Term]
- Coffin-Lowry syndrome [MeSH concept]
- Coffin-Lowry syndrome [MeSH Descriptor]
- Coffin-Lowry syndrome (disorder) [SNOMED CT concept]
- Coffin-lowry syndrome [OMIM Phenotype]
- coffin-lowry syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- RPS6KA3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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