You are using an outdated browser. Please upgrade your browser to improve your experience.

trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.
Uniprot Description A rare autosomal recessive, congenital syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies. It results in intellectual impairment and dwarfism, if untreated. Clinical features include hypogonadotropic hypogonadism during puberty, pigmentary retinal degeneration, ataxia, spastic paraplegia, and peripheral neuropathy.
Mondo Term and Equivalent IDs
MONDO:0010152:  trichomegaly-retina pigmentary degeneration-dwarfism syndrome
DOID:0111271: 
GARD:0005266: 
MESH:C536554: 
Orphanet:3363: 
SCTID:719944006: 
UMLS:C1848745: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)