Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandHypertelorism (D006972)
Parent Node:
expandTetralogy of Fallot (D013771)
..Starting node
..expandHypertelorism and tetralogy of Fallot (C538386)

       Child Nodes:



 Sister Nodes: 
..expandFallot complex with severe mental and growth retardation (C536608)
..expandHypertelorism and tetralogy of Fallot (C538386)
..expandTetralogy of fallot and glaucoma (C536501)
..expandTetralogy Of Fallot Syndrome, Autosomal Recessive (C565314)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5482
Name:Hypertelorism and tetralogy of Fallot
Definition:
Alternative IDs:
ParentIDs:MESH:D006972|MESH:D013771
TreeNumbers:C05.116.099.370.231.480/C538386 |C05.660.207.231.480/C538386 |C14.240.400.849/C538386 |C14.280.400.849/C538386 |C16.131.240.400.849/C538386 |C16.131.621.207.231.480/C538386
Synonyms:
Slim Mappings:Cardiovascular disease|Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C538386
MeSH: C538386
OMIM: 239711;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000581Blepharophimosis
3 HP:0005280Depressed nasal bridge
4 HP:0000286Epicanthus
5 HP:0000316Hypertelorism
6 HP:0000047Hypospadias
7 HP:0001256Intellectual disability, mild
8 HP:0000343Long philtrum
9 HP:0000369Low-set ears
10 HP:0001643Patent ductus arteriosus
11 HP:0001655Patent foramen ovale
12 HP:0000358Posteriorly rotated ears
13 HP:0003298Spina bifida occulta
14 HP:0001762Talipes equinovarus
15 HP:0001636Tetralogy of Fallot
16 HP:0011659Tetralogy of Fallot with absent pulmonary valve
Disease Causing ClinVar Variants