Corneal dystrophy, reis-bucklers type

Preferred Label : Corneal dystrophy, reis-bucklers type;

Symbol : CDRB;

CISMeF acronym : CDB1; CDRB; RBCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : RBCD; Corneal dystrophy, geographic; Granular corneal dystrophy, type III; Corneal dystrophy of bowman layer, type I; CDB1; Reis-bucklers corneal dystrophy;

Prefixed ID : #608470;

Details

Origin ID

608470;

UMLS CUI

C0339278;

Automatic exact mappings (from CISMeF team)
- Reis-Bücklers corneal dystrophy [ICD-11 More detail]
- TGFBI wt Allele [NCIt concept]
- corneal dystrophy avellino type [MeSH Supplementary Concept]
- groenouw type I corneal dystrophy [MeSH Supplementary Concept]
- transforming growth factor beta induced [ORDO Gene]
Currated CISMeF NLP mapping
- Corneal dystrophy of Bowman layer, type 1 [MeSH concept]
- Reis-Buckler corneal dystrophy [PASCAL descriptor]
- Reis-Bucklers corneal dystrophy [DO Concept]
- Reis-Bucklers' corneal dystrophy (disorder) [SNOMED CT concept]
- Reis-Bücklers corneal dystrophy [ORDO Disease]
- corneal dystrophy of bowman layer, type 1 [MeSH Supplementary Concept]
DO Cross reference
- Reis-Bucklers corneal dystrophy [DO Concept]
Genes related to phenotype
- Transforming growth factor, beta-induced, 68-kd [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Corneal dystrophy [HPO term]
- Corneal erosion [HPO term]
- Corneal opacity [HPO term]
- Infantile onset [HPO term]
- Opacification of the corneal stroma [HPO term]
- Palpebral edema [HPO term]
- Photophobia [HPO term]
- Reduced visual acuity [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Reis-Bücklers corneal dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Corneal dystrophy of Bowman layer, type 1 [MeSH concept]
- Reis-Buckler corneal dystrophy [PASCAL descriptor]
- Reis-Bucklers corneal dystrophy [DO Concept]
- Reis-Bucklers' corneal dystrophy (disorder) [SNOMED CT concept]
- Reis-Bücklers corneal dystrophy [ORDO Disease]
- corneal dystrophy of bowman layer, type 1 [MeSH Supplementary Concept]

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