MIRAGE Syndrome

Preferred Label : MIRAGE Syndrome;

NCIt synonyms : Myelodysplasia, Infection, Restriction of Growth, Adrenal Hypoplasia, Genital Phenotypes, and Enteropathy;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy.;

NCI Metathesaurus CUI : CL545426;

Détails

Origin ID

C147530;

UMLS CUI

C4284088;

CISMeF manual mappings
- Mirage syndrome [OMIM Phenotype]
Currated CISMeF NLP mapping
- MIRAGE syndrome [ORDO Disease]
- Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MIRAGE syndrome [ORDO Disease]
- Mirage syndrome [OMIM Phenotype]
- Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_mapped_to_gene
- SAMD9 Gene [NCIt concept]
related_to_genetic_biomarker
- SAMD9 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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