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lipoid proteinosis

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.
Uniprot Description Rare autosomal recessive disorder characterized by generalized thickening of skin, mucosae and certain viscera. Classical features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. Histologically, there is widespread deposition of hyaline material and disruption/reduplication of basement membrane.
Mondo Term and Equivalent IDs
MONDO:0009530:  lipoid proteinosis
GARD:0003268: 
MESH:D008065: 
NCIT:C84829: 
Orphanet:530: 
SCTID:38692000: 
UMLS:C0023795: