Galloway-Mowat Syndrome

Preferred Label : Galloway-Mowat Syndrome;

NCIt synonyms : GAMOS;

NCIt definition : An autosomal recessive neurodegenerative condition caused by mutation(s) in the WDR73 gene, encoding WD repeat-containing protein 73. It is characterized by microcephaly and severely delayed psychomotor development.;

Details

Origin ID

C132195;

UMLS CUI

C0795949;

Currated CISMeF NLP mapping
- Galloway Mowat syndrome [MeSH concept]
- Galloway Mowat syndrome (disorder) [SNOMED CT concept]
- Galloway syndrome [PASCAL descriptor]
- Galloway-Mowat syndrome [ORDO Disease]
- Galloway-Mowat syndrome [DO Concept]
- Galloway-mowat syndrome [OMIM phenotypic series]
- Galloway-mowat syndrome 1 [OMIM Phenotype]
- galloway mowat syndrome [MeSH Supplementary Concept]
DO Cross reference
- Galloway-Mowat syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Galloway Mowat syndrome [MeSH concept]
- Galloway Mowat syndrome [MedDRA Preferred Term]
- Galloway Mowat syndrome (disorder) [SNOMED CT concept]
- Galloway syndrome [PASCAL descriptor]
- Galloway-Mowat syndrome [ORDO Disease]
- Galloway-Mowat syndrome [DO Concept]
- Galloway-Mowat syndrome 1 [DO Concept]
- Galloway-mowat syndrome 1 [OMIM Phenotype]
- galloway mowat syndrome [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Galloway-Mowat syndrome 1 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients