AMeD Syndrome - CISMeF

Preferred Label : AMeD Syndrome;

NCIt synonyms : Fanconi Anemia-Like IBMFS; Aplastic Anemia, Mental Retardation and Dwarfism Syndrome; BMFS7; Fanconi Anemia-Like Inherited Bone Marrow Failure Syndrome; AMeDS; Bone Marrow Failure Syndrome 7, Digenic;

NCIt definition : A digenic recessive condition caused by mutation(s) in the ADH5 gene accompanied by a specific mutation in the ALDH2 gene. It is characterized by global developmental delay, impaired intellectual development, bone marrow failure, and myelodysplastic syndrome.;

NCI Metathesaurus CUI : CL1660601;

Details

Origin ID

C185246;

UMLS CUI

C5436906;

Currated CISMeF NLP mapping
- AMED syndrome [DO Concept]
- Amed syndrome, digenic [OMIM Phenotype]
- Aplastic anemia-intellectual disability-dwarfism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amed syndrome, digenic [OMIM Phenotype]
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) :

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