Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Abnormalities, Multiple (D000015)
Parent Node: Gastrointestinal Diseases (D005767)
Parent Node: Hearing Loss, Conductive (D006314)
Parent Node: Kidney Diseases (D007674)
Parent Node: Respiratory Tract Diseases (D012140)
Parent Node: Vision Disorders (D014786)
..Starting node ..Siegler Brewer Carey syndrome (C537335)
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:	10231
Name:	Siegler Brewer Carey syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D005767\|MESH:D006314\|MESH:D007674\|MESH:D012140\|MESH:D014786
TreeNumbers:	C06.405/C537335 \|C08/C537335 \|C09.218.458.341.562/C537335 \|C10.597.751.418.341.562/C537335 \|C10.597.751.941/C537335 \|C11.966/C537335 \|C12.777.419/C537335 \|C13.351.968.419/C537335 \|C16.131.077/C537335 \|C23.888.592.763.393.341.562/C537335 \|C23.888.592.763.941/C53733
Synonyms:
Slim Mappings:	Congenital abnormality\|Digestive system disease\|Ear-nose-throat disease\|Eye disease\|Nervous system disease\|Respiratory tract disease\|Signs and symptoms\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C537335 MeSH: C537335 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants