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nevoid basal cell carcinoma syndrome

Disease Summary
Associated Targets (7)
Tbio

5

Tchem

2


Explore Associated Targets
Mondo Description A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.
Uniprot Description An autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas.
Mondo Term and Equivalent IDs
MONDO:0007187:  nevoid basal cell carcinoma syndrome
GARD:0007166: 
MESH:D001478: 
NCIT:C2892: 
Orphanet:377: 
SCTID:69408002: 
UMLS:C0004779: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
Tbio

4331

Tchem

803

Tdark

604

Tclin

358

Tbio

1763

Tchem

284

Tdark

193

Tclin

124

Tbio

436

Tchem

109

Tclin

51

Tdark

12

Tbio

277

Tchem

73

Tclin

46

Tdark

11

Tbio

50

Tchem

14

Tclin

7

Tdark

1

Children
Target Novelty (Tin-x)