Preferred Label : Corneal dystrophy, thiel-behnke type;
Symbol : CDTB;
CISMeF acronym : CDB2; CDTB; TBCD;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : TBCD; Corneal dystrophy, honeycomb-shaped; CDB2; Corneal dystrophy of bowman layer, type II; Thiel-behnke corneal dystrophy;
Description : Thiel-Behnke corneal dystrophy, or CDB2, is a genetically heterogeneous disorder.
One form has been linked to chromosome 10q24. Another form is caused by mutation in
the TGFBI gene (601692) on chromosome 5q31. This gene is mutant in several other forms
of corneal dystrophy, including Reis-Bucklers corneal dystrophy (CDRB, or CDB1; 608470),
lattice type I corneal dystrophy (CDL1; 122200), lattice type IIIA corneal dystrophy
(CDL3A; 608471), Avellino corneal dystrophy (ACD; 607541), and Groenouw type I corneal
dystrophy (CDGG1; 121900).;
Inheritance : Autosomal dominant;
Prefixed ID : #602082;
Origin ID : 602082;
UMLS CUI : C1562894;
Automatic exact mappings (from CISMeF team)
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
