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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: Facies (D019066)
Parent Node: Microphthalmos (D008850)
Parent Node: Truncus Arteriosus, Persistent (D014339)
..Starting node ..Thomas Jewett Raines syndrome (C536513)
Child Nodes:
Sister Nodes:
..CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
..Thomas Jewett Raines syndrome (C536513)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10970
Name:	Thomas Jewett Raines syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D008850\|MESH:D014339\|MESH:D019066
TreeNumbers:	C11.250.566/C536513 \|C14.240.400.560.098.500/C536513 \|C14.280.400.560.098.500/C536513 \|C16.131.077/C536513 \|C16.131.240.400.560.098.500/C536513 \|C16.131.384.666/C536513 \|C23.550.291.812/C536513
Synonyms:
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Eye disease\|Pathology (process)
Reference:	MedGen: C536513 MeSH: C536513 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants