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encephalocraniocutaneous lipomatosis

Disease Summary
Associated Targets (2)
Tclin

2


Explore Associated Targets
Mondo Description A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.
Uniprot Description A sporadically occurring, neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system anomalies. Clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, intracranial and intraspinal lipomas, and congenital abnormalities of the meninges. Seizures, spasticity, and intellectual disability can be present.
Mondo Term and Equivalent IDs
MONDO:0013074:  encephalocraniocutaneous lipomatosis
GARD:0002108: 
MESH:C535736: 
NCIT:C4701: 
Orphanet:2396: 
SCTID:238905009: 
UMLS:C0406612: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found