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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: Glaucoma (D005901)
Parent Node: Tetralogy of Fallot (D013771)
..Starting node ..Tetralogy of fallot and glaucoma (C536501)
Child Nodes:
Sister Nodes:
..Fallot complex with severe mental and growth retardation (C536608)
..Hypertelorism and tetralogy of Fallot (C538386)
..Tetralogy of fallot and glaucoma (C536501)
..Tetralogy Of Fallot Syndrome, Autosomal Recessive (C565314)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10945

Name:

Tetralogy of fallot and glaucoma

Definition:

Alternative IDs:

ParentIDs:

MESH:D005901|MESH:D013771

TreeNumbers:

C11.525.381/C536501 |C14.240.400.849/C536501 |C14.280.400.849/C536501 |C16.131.240.400.849/C536501

Synonyms:

Familial tetralogy of fallot and glaucoma

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Eye disease

Reference:

MedGen: C536501
MeSH: C536501
OMIM: 187501;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001087	Developmental glaucoma
3	HP:0001636	Tetralogy of Fallot

Disease Causing ClinVar Variants