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:
expandGrowth Disorders (D006130)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandTetralogy of Fallot (D013771)
..Starting node
..expandFallot complex with severe mental and growth retardation (C536608)

       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:4116
Name:Fallot complex with severe mental and growth retardation
Definition:
Alternative IDs:
ParentIDs:MESH:D006130|MESH:D008607|MESH:D013771
TreeNumbers:C10.597.606.643/C536608 |C14.240.400.849/C536608 |C14.280.400.849/C536608 |C16.131.240.400.849/C536608 |C23.550.393/C536608 |C23.888.592.604.646/C536608 |F03.550.600/C536608
Synonyms:Bindewald Ulmer Muller syndrome
Slim Mappings:Cardiovascular disease|Congenital abnormality|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C536608
MeSH: C536608
OMIM: 601127;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000271Abnormality of the face
3 HP:0001719Double outlet right ventricle
4 HP:0001508Failure to thrive
5 HP:0001249Intellectual disability
6 HP:0001642Pulmonic stenosis
7 HP:0001636Tetralogy of Fallot
8 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants