Global developmental delay, lung cysts, overgrowth, and wilms tumor

Preferred Label : Global developmental delay, lung cysts, overgrowth, and wilms tumor;

Symbol : GLOW;

CISMeF acronym : GLOW;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glow syndrome;

Inheritance : Somatic mosaicism;

Molecular basis : Caused by postzygotic somatic mosaic mutation in the homolog of the Drosophila dicer 1 gene (DICER1, 606241.0013);

Neoplasia : Wilms tumor susceptibility;

Prefixed ID : #618272;

Details

Origin ID

618272;

UMLS CUI

C4748924;

Automatic exact mappings (from CISMeF team)
- DICER1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) [SNOMED CT concept]
- Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome [ORDO Disease]
Genes related to phenotype
- Dicer 1, ribonuclease III [OMIM gene]
HPO term(s)
- Depressed nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Macrocephaly [HPO term]
- Nephroblastoma [HPO term]
- Overgrowth [HPO term]
- Somatic mosaicism [HPO term]
ORDO concept(s)
- Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) [SNOMED CT concept]

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