Amed syndrome, digenic

Preferred Label : Amed syndrome, digenic;

Symbol : AMEDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bone marrow failure syndrome 7, digenic; BMFS7; Aldehyde degradation deficiency syndrome; ADDS;

Prefixed ID : #619151;

Details

Origin ID

619151;

UMLS CUI

C5436906;

Currated CISMeF NLP mapping
- AMeD Syndrome [NCIt concept]
Genes related to phenotype
- Alcohol dehydrogenase 5, chi polypeptide [OMIM gene]
HPO term(s)
- Acute myeloid leukemia [HPO term]
- Adrenal hypoplasia [HPO term]
- Anemia [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Bone marrow hypocellularity [HPO term]
- Digenic inheritance [HPO term]
- Dolichocephaly [HPO term]
- Failure to thrive [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypoplasia of the uterus [HPO term]
- Intellectual disability [HPO term]
- Leukopenia [HPO term]
- Long thumb [HPO term]
- Microcephaly [HPO term]
- Motor regression [HPO term]
- Myelodysplasia [HPO term]
- Persistent left superior vena cava [HPO term]
- Short stature [HPO term]
- Telecanthus [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Aplastic anemia-intellectual disability-dwarfism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- AMeD Syndrome [NCIt concept]
Validated automatic mappings to NTBT
- Aplastic anemia-intellectual disability-dwarfism syndrome [ORDO Disease]

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