Disease browser and phenotype portal

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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: Adrenoleukodystrophy (D000326)
Parent Node: Deafness (D003638)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Muscle Spasticity (D009128)
Parent Node: Paralysis (D010243)
..Starting node ..Wells Jankovic syndrome (C536692)
Child Nodes:
Sister Nodes:
..Facial Paralysis (D005158) 6
..Gastroparesis (D018589)
..Hemiplegia (D006429) 1
..Ophthalmoplegia (D009886) 41
..Paraplegia (D010264) 14
..Pseudobulbar Palsy (D020828) 1
..Quadriplegia (D011782) 4
..Respiratory Paralysis (D012133)
..Vocal Cord Paralysis (D014826) 6
..Wells Jankovic syndrome (C536692)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11727
Name:	Wells Jankovic syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000326\|MESH:D003638\|MESH:D009128\|MESH:D010243\|MESH:D040181
TreeNumbers:	C05.651.512/C536692 \|C09.218.458.341.186/C536692 \|C10.228.140.163.100.362.250/C536692 \|C10.228.140.163.100.680.100/C536692 \|C10.228.140.695.625.250/C536692 \|C10.314.400.250/C536692 \|C10.597.606.643.455.124/C536692 \|C10.597.613.550.550/C536692 \|C10.597.622/C53669
Synonyms:	Familial spastic paraparesis and deafness \|Spastic Paraparesis and Deafness
Slim Mappings:	Ear-nose-throat disease\|Endocrine system disease\|Genetic disease (inborn)\|Metabolic disease\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C536692 MeSH: C536692 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants