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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: Down Syndrome (D004314)
..Starting node ..5-HYDROXYTRYPTAMINE OXYGENASE REGULATOR (OMIM:143460)
Child Nodes:
Sister Nodes:
..5-HYDROXYTRYPTAMINE OXYGENASE REGULATOR (OMIM:143460)
..BETA-AMINO ACIDS, RENAL TRANSPORT OF (OMIM:109660)
..Down Syndrome Critical Region (C566023)
..Leukemia, Megakaryoblastic, of Down Syndrome (C566025)
..Myeloproliferative Syndrome, Transient (C563551)
..Transient Myeloproliferative Disorder of Down Syndrome (C566024)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	47
Name:	5-HYDROXYTRYPTAMINE OXYGENASE REGULATOR
Definition:
Alternative IDs:
ParentIDs:	MESH:D004314
TreeNumbers:	C10.597.606.643.220/143460 \|C16.131.077.327/143460 \|C16.131.260.260/143460 \|C16.320.180.260/143460
Synonyms:	HTOR
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Nervous system disease
Reference:	MedGen: 143460 MeSH: 143460 OMIM: 143460; Genes:
Phenotypes
Disease Causing ClinVar Variants