Chromosomal instability with tissue-specific radiosensitivity

Preferred Label : Chromosomal instability with tissue-specific radiosensitivity;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 215510;

Details

Origin ID

215510;

UMLS CUI

C1859091;

Currated CISMeF NLP mapping
- chromosomal instability with Tissue-Specific radiosensitivity [MeSH concept]
- chromosomal instability with Tissue-Specific radiosensitivity [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of chromosome stability [HPO term]
- Autosomal recessive inheritance [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Increased sensitivity to ionizing radiation [HPO term]
- Microcephaly [HPO term]
- Multiple tumors [HPO term]
- Neoplasm [HPO term]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- chromosomal instability with Tissue-Specific radiosensitivity [MeSH Supplementary Concept]
- chromosomal instability with Tissue-Specific radiosensitivity [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients