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:
expandIntellectual Disability (D008607)
Parent Node:
expandOphthalmoplegia (D009886)
Parent Node:
expandTongue, Fissured (D014063)
..Starting node
..expandOphthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)

       Child Nodes:



 Sister Nodes: 
..expandGeographic Tongue and Fissured Tongue (C564239)
..expandOphthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8258
Name:Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency
Definition:
Alternative IDs:
ParentIDs:MESH:D008607|MESH:D009886|MESH:D014063
TreeNumbers:C07.465.910.708/C563498 |C10.292.562.750/C563498 |C10.597.606.643/C563498 |C10.597.622.447/C563498 |C11.590.472/C563498 |C23.888.592.604.646/C563498 |C23.888.592.636.447/C563498 |F03.550.600/C563498
Synonyms:
Slim Mappings:Eye disease|Mental disorder|Mouth disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C563498
MeSH: C563498
OMIM: 165150;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000221Furrowed tongue
3 HP:0001249Intellectual disability
4 HP:0007650Progressive ophthalmoplegia
Disease Causing ClinVar Variants