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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: Genetic Diseases, X-Linked (D040181)
Parent Node: Optic Atrophy (D009896)
..Starting node ..Optic atrophy, X-linked (C537125)
Child Nodes:
Sister Nodes:
..Al Gazali Khidr Prem Chandran syndrome (C535616)
..Al Gazali Sabrinathan Nair syndrome (C535617)
..Behr syndrome (C537669)
..CAPOS syndrome (C535351)
..Costeff optic atrophy syndrome (C535311)
..Jensen syndrome (C537568)
..Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810)
..Mohr-Tranebjaerg syndrome (C535808)
..Optic Atrophies, Hereditary (D015418) 30
..OPTIC ATROPHY 2 (OMIM:311050)
..Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant (C563497)
..Optic atrophy, X-linked (C537125)
..PEHO syndrome (C536317)
..Silengo Lerone Pelizza syndrome (C537336)
..Spastic Ataxia (C564815)
..Spastic Paraplegia, Optic Atrophy, and Neuropathy (C563702)
..Treft Sanborn Carey syndrome (C536544)
..Warburg Sjo Fledelius syndrome (C536681)
..Wolfram Syndrome 2 (C565733)
..X-linked mental retardation Gustavson type (C536759)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8288
Name:	Optic atrophy, X-linked
Definition:
Alternative IDs:
ParentIDs:	MESH:D009896\|MESH:D040181
TreeNumbers:	C10.292.700.225/C537125 \|C11.640.451/C537125 \|C16.320.322/C537125
Synonyms:	Optic atrophy 2 \|Optic atrophy, non-Leber type, with early onset
Slim Mappings:	Eye disease\|Genetic disease (inborn)\|Nervous system disease
Reference:	MedGen: C537125 MeSH: C537125 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants