Primary Congenital Glaucoma 3A

Preferred Label : Primary Congenital Glaucoma 3A;

NCIt synonyms : GLC3A;

NCIt definition : An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1.;

NCI Metathesaurus CUI : CL550925;

Details

Origin ID

C148260;

UMLS CUI

C1856439;

Currated CISMeF NLP mapping
- Glaucoma 3, primary congenital, a [OMIM Phenotype]
- glaucoma 3, primary congenital, A [MeSH concept]
- glaucoma 3, primary congenital, A [MeSH Supplementary Concept]
Has associated anatomic sites
- Eye [NCIt concept]
See also inter- (CISMeF)
- Buphthalmos [HRDO Sign]
- Buphthalmos [MedDRA LLT]
- Buphthalmos [HPO term]
- buphthalmos [DO Concept]
- buphthalmos [Disease (Nov.)]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glaucoma 3, primary congenital, a [OMIM Phenotype]
- glaucoma 3, primary congenital, A [MeSH concept]
- glaucoma 3, primary congenital, A [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CYP1B1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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