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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Creutzfeldt-Jakob Syndrome (D007562)
Parent Node: Vision Disorders (D014786)
..Starting node ..Creutzfeldt-Jakob Disease, Heidenhain Variant (C566981)
Child Nodes:
Sister Nodes:
..Alice in Wonderland Syndrome (D062026)
..Amblyopia (D000550) 2
..Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..Blindness (D001766) 39
..Color Vision Defects (D003117) 11
..Creutzfeldt-Jakob Disease, Heidenhain Variant (C566981)
..Diplopia (D004172)
..Enhanced S-Cone Syndrome (C564835)
..Hemianopsia (D006423)
..Night Blindness (D009755) 14
..Photophobia (D020795) 2
..Scotoma (D012607) 1
..Siegler Brewer Carey syndrome (C537335)
..SPATIAL VISUALIZATION, APTITUDE FOR (OMIM:313000)
..Susac Syndrome (D055955)
..Vision, Low (D015354)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2853
Name:	Creutzfeldt-Jakob Disease, Heidenhain Variant
Definition:
Alternative IDs:
ParentIDs:	MESH:D007562\|MESH:D014786
TreeNumbers:	C10.228.140.380.165/C566981 \|C10.228.228.800.230/C566981 \|C10.597.751.941/C566981 \|C11.966/C566981 \|C23.888.592.763.941/C566981 \|F03.087.400.300/C566981
Synonyms:
Slim Mappings:	Eye disease\|Mental disorder\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C566981 MeSH: C566981 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants