Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandHypothyroidism (D007037)
Parent Node:
expandMucinoses (D017520)
..Starting node
..expandMyxedema (D009230)

       Child Nodes:



 Sister Nodes: 
..expandGanglion Cysts (D045888)
..expandMucinosis, Follicular (D000507)
..expandMucopolysaccharidoses (D009083) Child10
..expandMyxedema (D009230)
..expandScleredema Adultorum (D012592)
..expandScleromyxedema (D053718)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7743
Name:Myxedema
Definition:A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips.
Alternative IDs:
ParentIDs:MESH:D007037|MESH:D017520
TreeNumbers:C17.300.550.590 |C19.874.482.638
Synonyms:Myxedemas
Slim Mappings:Connective tissue disease|Endocrine system disease
Reference: MedGen: D009230
MeSH: D009230
OMIM: 255900;

Genes:
Phenotypes
1 HP:0002019Constipation
2 HP:0003388Easy fatigability
3 HP:0002925Elevated circulating thyroid-stimulating hormone concentration
4 HP:0012378Fatigue
5 HP:0001609Hoarse voice
6 HP:0000966Hypohidrosis
7 HP:0000821Hypothyroidism
8 HP:0001254Lethargy
9 HP:0002354Memory impairment
10 HP:0003394Muscle spasm
11 HP:0001324Muscle weakness
12 HP:0003401Paresthesia
Disease Causing ClinVar Variants