Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:3642
Name:Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia
Definition:
Alternative IDs:
ParentIDs:MESH:D006330|MESH:D008844|MESH:D038061
TreeNumbers:C05.500.460.457/C563344 |C05.660.207.540.460.457/C563344 |C05.660.585.512/C563344 |C07.320.440.457/C563344 |C07.650.500.460.457/C563344 |C14.240.400/C563344 |C14.280.400/C563344 |C16.131.240.400/C563344 |C16.131.621.207.540.460.457/C563344 |C16.131.621.585.512/C5
Synonyms:
Slim Mappings:Cardiovascular disease|Congenital abnormality|Mouth disease|Musculoskeletal disease
Reference: MedGen: C563344
MeSH: C563344
OMIM: 601348;

Genes:
Phenotypes
1 HP:0000581Blepharophimosis
2 HP:0010954Hypoplastic right heart
3 HP:0000347Micrognathia
4 HP:0012745Short palpebral fissure
5 HP:0001839Split foot
6 HP:0001636Tetralogy of Fallot
7 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants