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neurofibromatosis type 1

Disease Summary
Associated Targets (35)
Tbio

28

Tclin

5

Tchem

2


Explore Associated Targets
Mondo Description Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
Uniprot Description A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors.
Mondo Term and Equivalent IDs
MONDO:0018975:  neurofibromatosis type 1
COHD:377252: 
DOID:0111253: 
GARD:0007866: 
ICD9:237.71: 
MESH:D009456: 
NCIT:C3273: 
Orphanet:636: 
SCTID:92824003: 
UMLS:C0027831: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)