Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5

Preferred Label : Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 5;

Symbol : PFBMFT5;

CISMeF acronym : PFBMFT5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the zinc finger CCHC domain-containing protein 8 gene (ZCCHC8, 616381.0001);

Laboratory abnormalities : Shortened telomeres; Low levels of TERC (602322);

Prefixed ID : #618674;

Details

Origin ID

618674;

UMLS CUI

C5231457;

Genes related to phenotype
- Zinc finger cchc domain-containing protein 8 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bone marrow hypocellularity [HPO term]
- Pulmonary fibrosis [HPO term]
- Short telomere length [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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