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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: Abnormalities, Multiple (D000015)
Parent Node: Brain Diseases, Metabolic, Inborn (D020739)
Parent Node: Microcephaly (D008831)
Parent Node: Optic Atrophy (D009896)
..Starting node ..Silengo Lerone Pelizza syndrome (C537336)
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:	10237
Name:	Silengo Lerone Pelizza syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D008831\|MESH:D009896\|MESH:D020739
TreeNumbers:	C05.660.207.620/C537336 \|C10.228.140.163.100/C537336 \|C10.292.700.225/C537336 \|C10.500.507.400.500/C537336 \|C11.640.451/C537336 \|C16.131.077/C537336 \|C16.131.621.207.620/C537336 \|C16.131.666.507.400.500/C537336 \|C16.320.565.189/C537336 \|C18.452.132.100/C537336 \|C1
Synonyms:
Slim Mappings:	Congenital abnormality\|Eye disease\|Genetic disease (inborn)\|Metabolic disease\|Musculoskeletal disease\|Nervous system disease
Reference:	MedGen: C537336 MeSH: C537336 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants