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: Facies (D019066)
Parent Node: Myopia (D009216)
Parent Node: Night Blindness (D009755)
..Starting node ..Night blindness skeletal anomalies unusual facies (C536121)
Child Nodes:
Sister Nodes:
..CSNB1C (C567704)
..Fleck Retina of Kandori (C562701)
..Night blindness skeletal anomalies unusual facies (C536121)
..Night blindness, congenital stationary (C536122) 4
..Night Blindness, Congenital Stationary, Autosomal Dominant 1 (C566474)
..Night Blindness, Congenital Stationary, Autosomal Dominant 2 (C566869)
..Night Blindness, Congenital Stationary, Autosomal Dominant 3 (C566475)
..NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (OMIM:610427)
..Oguchi disease (C537743)
..Retinopathy, Pericentral Pigmentary, Dominant (C566713)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8076
Name:	Night blindness skeletal anomalies unusual facies
Definition:
Alternative IDs:
ParentIDs:	MESH:D009216\|MESH:D009755\|MESH:D019066
TreeNumbers:	C11.744.636/C536121 \|C11.966.671/C536121 \|C23.550.291.812/C536121
Synonyms:	Hunter Thomson Reed syndrome
Slim Mappings:	Eye disease\|Pathology (process)
Reference:	MedGen: C536121 MeSH: C536121 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants