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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: Cataract (D002386)
Parent Node: Growth Disorders (D006130)
Parent Node: Hypogonadism (D007006)
Parent Node: Intellectual Disability (D008607)
Parent Node: Microcephaly (D008831)
Parent Node: Muscle Spasticity (D009128)
..Starting node ..Seemanova Lesny syndrome (C537536)
Child Nodes:
Sister Nodes:
..Ataxia, Spastic, with Congenital Miosis (C566247)
..Brooks-Wisniewski-Brown Syndrome (C563154)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Choreoathetosis/Spasticity, Episodic (C563401)
..Diaminopentanuria (C565630)
..Encephalopathy, Spastic Tetraparesis, and Hypogonadism (C565722)
..Fitzsimmons Walson Mellor syndrome (C537937)
..Koone Rizzo Elias syndrome (C537023)
..Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
..Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
..Methylenetetrahydrofolate reductase deficiency (C537357)
..Opticocochleodentate Degeneration (C563002)
..Powell Venencie Gordon syndrome (C538358)
..Seemanova Lesny syndrome (C537536)
..Spastic Ataxia (C564815)
..Spastic ataxia Charlevoix-Saguenay type (C536787)
..Wells Jankovic syndrome (C536692)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10104
Name:	Seemanova Lesny syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D002386\|MESH:D006130\|MESH:D007006\|MESH:D008607\|MESH:D008831\|MESH:D009128
TreeNumbers:	C05.651.512/C537536 \|C05.660.207.620/C537536 \|C10.500.507.400.500/C537536 \|C10.597.606.643/C537536 \|C10.597.613.550.550/C537536 \|C11.510.245/C537536 \|C16.131.077/C537536 \|C16.131.621.207.620/C537536 \|C16.131.666.507.400.500/C537536 \|C19.391.482/C537536 \|C23.550.39
Synonyms:
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Eye disease\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: C537536 MeSH: C537536 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants