Miller-McKusick-Malvaux-Syndrome (3M syndrome)

Preferred Label : Miller-McKusick-Malvaux-Syndrome (3M syndrome);

MeSH note : 3M syndrome 1 (3M1) associated with mutation in CUL7;

CISMeF synonym : 3m1; three M syndrome 1;

MeSH synonym : 3M syndrome; three M syndrome; 3-M syndrome; Miller-McKusick-Malvaux-Syndrome;

MeSH hyponym : Dolichospondylic Dysplasia; Yakut Short Stature Syndrome; Three-M Slender-Boned Nanism; Le Merrer Syndrome; Gloomy Face Syndrome;

Details

Origin ID

C535314;

UMLS CUI

C1848862;

Currated CISMeF NLP mapping
- 3-M syndrome [DO Concept]
- 3M syndrome [ORDO Disease]
- Dolichospondylic dysplasia (disorder) [SNOMED CT concept]
- Three M syndrome 1 [OMIM Phenotype]
DO Cross reference
- 3-M syndrome [DO Concept]
False automatic mappings
- Light fixation seizure syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- dwarfism [MeSH Descriptor]
- muscle hypotonia [MeSH Descriptor]
- spine [MeSH Descriptor]
Record concept(s)
- Miller-McKusick-Malvaux-Syndrome (3M Syndrome) [MeSH concept]
- three M syndrome 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3M syndrome [MedDRA Preferred Term]
- Dolichospondylic dysplasia (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- dolichospondylic dysplasia [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

Main resources

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