Corneal dystrophy, avellino type

Preferred Label : Corneal dystrophy, avellino type;

Symbol : CDA;

CISMeF acronym : ACD; CDA; CGD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ACD; Combined granular-lattice corneal dystrophy; Avellino corneal dystrophy; CGD2; Granular corneal dystrophy, type II;

Description : corneal dystrophy (CDA) is caused by mutation in the gene encoding keratoepithelin (TGFBI; 601692). Several other forms of autosomal dominant corneal dystrophy are caused by mutation in this gene, which maps to chromosome 5q31.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the transforming growth factor, beta-induced, 68kD gene (TGFBI, 601692.0004);

Prefixed ID : #607541;

Details

Origin ID

607541;

UMLS CUI

C1275685;

Automatic exact mappings (from CISMeF team)
- ACD Gene [NCIt concept]
- ACD shelterin complex subunit and telomerase recruitment factor [ORDO Gene]
- Acid-Citrate-Dextrose [NCIt concept]
- Adrenocortical Dysplasia Protein Homolog [NCIt concept]
- Adult form of celiac disease (disorder) [SNOMED CT concept]
- Advisory Committee to the Director, NCI [NCIt concept]
- Before Lunch [NCIt concept]
- CDA Gene [NCIt concept]
- Coeliac disease [ICD-11 Category]
- Congenital dyserythropoietic anaemia [ICD-11 Category]
- Congenital dyserythropoietic anemia (disorder) [SNOMED CT concept]
- Corneal dystrophy, Avellino type [ICD-11 More detail]
- Cytidine Deaminase [NCIt concept]
- Right coronary artery [FMA entity]
- alopecia contractures dwarfism mental retardation [MeSH Supplementary Concept]
- anemia, dyserythropoietic, congenital [MeSH Descriptor]
- cytidine deaminase [HGNC gene]
- diabetic ketoacidosis [MeSH Descriptor]
- groenouw type I corneal dystrophy [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Avellino corneal dystrophy [ICD-11 More detail]
- Corneal dystrophy Avellino type [MeSH concept]
- Corneal dystrophy, Avellino type [MedDRA LLT]
- Granular corneal dystrophy type II [ORDO Disease]
- Granular corneal dystrophy type II (disorder) [SNOMED CT concept]
- corneal dystrophy avellino type [MeSH Supplementary Concept]
- granular corneal dystrophy 2 [DO Concept]
- granular corneal dystrophy type II [Disease (Nov.)]
DO Cross reference
- granular corneal dystrophy 2 [DO Concept]
False automatic mappings
- Cladribine [NCIt concept]
- Congenital dyserythropoietic anemia [ORDO Disease]
- Dacarbazine (substance) [SNOMED CT concept]
- dactinomycin [MeSH Descriptor]
Genes related to phenotype
- Transforming growth factor, beta-induced, 68-kd [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Lattice corneal dystrophy [HPO term]
- Reduced visual acuity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Granular corneal dystrophy type II [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Corneal dystrophy Avellino type [MeSH concept]
- Corneal dystrophy, Avellino type [MedDRA LLT]
- Granular corneal dystrophy type II [ORDO Disease]
- Granular corneal dystrophy type II (disorder) [SNOMED CT concept]
- corneal dystrophy avellino type [MeSH Supplementary Concept]
- granular corneal dystrophy 2 [DO Concept]
- granular corneal dystrophy type II [Disease (Nov.)]

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