Premature centromere division

Preferred Label : Premature centromere division;

Symbol : PCD;

CISMeF acronym : PCD;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : X-chromosome centromere peculiarity;

Inheritance : Isolated cases;

Laboratory abnormalities : Premature centromere division (PCD) of the X chromosome observed in cultured lymphocytes during metaphase; PCD shows separate and rod-shaped X chromosomes without discernible centromeres; Aneuploidy of the X chromosome;

Prefixed ID : %212790;

Détails

Origin ID

212790;

UMLS CUI

C1859308;

Automatic exact mappings (from CISMeF team)
- Paraneoplastic cerebellar degeneration [ORDO Disease]
- Paraneoplastic neurologic syndrome [ORDO Disease]
- Primary ciliary dyskinesia [ORDO Disease]
- dynein axonemal assembly factor 3 [ORDO Gene]
- dynein axonemal assembly factor 3 [HGNC gene]
- dynein axonemal heavy chain 5 [ORDO Gene]
- dynein axonemal heavy chain 5 [HGNC gene]
- dynein axonemal intermediate chain 1 [ORDO Gene]
- dynein axonemal intermediate chain 1 [HGNC gene]
- programmed cell death [GO term]
- pterin-4 alpha-carbinolamine dehydratase 1 [ORDO Gene]
- pterin-4 alpha-carbinolamine dehydratase 1 [HGNC gene]
- symbol withdrawn CILD2 [HGNC gene]
False automatic mappings
- Apoptosis [NCIt concept]
- PCD Regimen [NCIt concept]
- paraneoplastic cerebellar degeneration [MeSH Descriptor]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Sporadic [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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