Monosomy 7 myelodysplasia and leukemia syndrome 2

Preferred Label : Monosomy 7 myelodysplasia and leukemia syndrome 2;

Symbol : M7MLS2;

Type : Phenotype, molecular basis known;

Prefixed ID : #619041;

Details

Origin ID

619041;

UMLS CUI

C5436668;

Genes related to phenotype
- Sterile alpha motif domain-containing protein 9 [OMIM gene]
HPO term(s)
- Acute myeloid leukemia [HPO term]
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Childhood onset [HPO term]
- Increased mean corpuscular volume [HPO term]
- Megakaryocyte dysplasia [HPO term]
- Myelodysplasia [HPO term]
- Neutropenia [HPO term]
- Pancytopenia [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Familial monosomy 7 syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Familial monosomy 7 syndrome [ORDO Disease]

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