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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: Keratoderma, Palmoplantar (D007645)
Parent Node: Muscle Spasticity (D009128)
..Starting node ..Powell Venencie Gordon syndrome (C538358)
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:	9196
Name:	Powell Venencie Gordon syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D007645\|MESH:D009128
TreeNumbers:	C05.651.512/C538358 \|C10.597.613.550.550/C538358 \|C16.320.850.475/C538358 \|C17.800.428.435/C538358 \|C17.800.827.475/C538358 \|C23.888.592.608.550.550/C538358
Synonyms:	Keratoderma and spastic paralysis \|Punctate keratoderma and spastic paralysis
Slim Mappings:	Genetic disease (inborn)\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms\|Skin disease
Reference:	MedGen: C538358 MeSH: C538358 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants