Bone marrow failure syndrome 5

Preferred Label : Bone marrow failure syndrome 5;

Symbol : BMFS5;

CISMeF acronym : BMFS5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tumor protein p53 gene (TP53, 191170.0043);

Prefixed ID : #618165;

Details

Origin ID

618165;

UMLS CUI

C4748488;

Genes related to phenotype
- Tumor protein p53 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased circulating antibody level [HPO term]
- Delayed skeletal maturation [HPO term]
- Global developmental delay [HPO term]
- Hypogonadism [HPO term]
- Microcephaly [HPO term]
- Pure red cell aplasia [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Testicular atrophy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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