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: Congenital Abnormalities (D000013)
Parent Node: Respiratory Sounds (D012135)
..Starting node ..Stridor, Congenital (C563163)
Child Nodes:
Sister Nodes:
..Snoring (D012913)
..Stridor, Congenital (C563163)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10707
Name:	Stridor, Congenital
Definition:
Alternative IDs:
ParentIDs:	MESH:D000013\|MESH:D012135
TreeNumbers:	C16.131/C563163 \|C23.888.852.779/C563163
Synonyms:
Slim Mappings:	Congenital abnormality\|Signs and symptoms
Reference:	MedGen: C563163 MeSH: C563163 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants