Glaucoma 3, primary congenital, D

Preferred Label : Glaucoma 3, primary congenital, D;

Symbol : GLC3D;

CISMeF acronym : GLC3D;

Type : Phenotype, molecular basis known;

Prefixed ID : #613086;

Details

Origin ID

613086;

UMLS CUI

C2751316;

Automatic exact mappings (from CISMeF team)
- LTBP2 wt Allele [NCIt concept]
- Pediatric-onset glaucoma of genetic origin [ORDO Disease]
Currated CISMeF NLP mapping
- glaucoma 3, primary congenital, D [MeSH concept]
- glaucoma 3, primary congenital, D [MeSH Supplementary Concept]
DO Cross reference
- primary congenital glaucoma [DO Concept]
Genes related to phenotype
- Latent transforming growth factor-beta-binding protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Corneal opacity [HPO term]
- Ectopia lentis [HPO term]
- Photophobia [HPO term]
- Primary congenital glaucoma [HPO term]
ORDO concept(s)
- Congenital glaucoma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- glaucoma 3, primary congenital, D [MeSH Supplementary Concept]
- glaucoma 3, primary congenital, D [MeSH concept]

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