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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: Eye Diseases, Hereditary (D015785)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Myopia (D009216)
Parent Node: Night Blindness (D009755)
..Starting node ..Night blindness, congenital stationary (C536122)
Child Nodes:
........NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A (OMIM:310500)
........NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B (OMIM:257270)
........NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C (OMIM:613216)
........NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A (OMIM:300071)
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:	8067
Name:	Night blindness, congenital stationary
Definition:
Alternative IDs:
ParentIDs:	MESH:D009216\|MESH:D009755\|MESH:D015785\|MESH:D040181
TreeNumbers:	C11.270/C536122 \|C11.744.636/C536122 \|C11.966.671/C536122 \|C16.320.290/C536122 \|C16.320.322/C536122
Synonyms:	Congenital stationary night blindness \|CSNB1A \|CSNB1B \|CSNB2 \|CSNB2A \|CSNB2B \|CSNB, Complete, X-Linked \|CSNB, Incomplete, Autosomal Recessive \|CSNB, Incomplete, X-Linked \|Hemeralopia-myopia \|Myopia-night blindness \|Night Blindness, Congenital Stationary, Complete,
Slim Mappings:	Eye disease\|Genetic disease (inborn)
Reference:	MedGen: C536122 MeSH: C536122 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants