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: Brain Diseases, Metabolic, Inborn (D020739)
Parent Node: Hypogonadism (D007006)
Parent Node: Muscle Spasticity (D009128)
Parent Node: Paresis (D010291)
..Starting node ..Encephalopathy, Spastic Tetraparesis, and Hypogonadism (C565722)
Child Nodes:
Sister Nodes:
..Encephalopathy, Spastic Tetraparesis, and Hypogonadism (C565722)
..Hhhh Syndrome (C564411)
..Paraparesis (D020335) 7
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3746
Name:	Encephalopathy, Spastic Tetraparesis, and Hypogonadism
Definition:
Alternative IDs:
ParentIDs:	MESH:D007006\|MESH:D009128\|MESH:D010291\|MESH:D020739
TreeNumbers:	C05.651.512/C565722 \|C10.228.140.163.100/C565722 \|C10.597.613.550.550/C565722 \|C10.597.636/C565722 \|C16.320.565.189/C565722 \|C18.452.132.100/C565722 \|C18.452.648.189/C565722 \|C19.391.482/C565722 \|C23.888.592.608.550.550/C565722 \|C23.888.592.643/C565722
Synonyms:
Slim Mappings:	Endocrine system disease\|Genetic disease (inborn)\|Metabolic disease\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C565722 MeSH: C565722 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants