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:
expandAlopecia (D000505)
Parent Node:
expandDiarrhea (D003967)
Parent Node:
expandSpasm (D013035)
..Starting node
..expandSatoyoshi syndrome (C536616)

       Child Nodes:



 Sister Nodes: 
..expandBehr syndrome (C537669)
..expandDwarfism, Familial, With Muscle Spasms (C563447)
..expandHemifacial Spasm (D019569) Child1
..expandSatoyoshi syndrome (C536616)
..expandTrismus (D014313) Child2
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:9994
Name:Satoyoshi syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000505|MESH:D003967|MESH:D013035
TreeNumbers:C10.597.613.750/C536616 |C17.800.329.937.122/C536616 |C23.300.035/C536616 |C23.888.592.608.750/C536616 |C23.888.821.214/C536616
Synonyms:Komuragaeri Disease |Muscle spasms, intermittent with alopecia, diarrhea, and skeletal abnormalities |Muscle Spasms, Intermittent, With Alopecia, Diarrhea, And Skeletal Abnormalities
Slim Mappings:Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease
Reference: MedGen: C536616
MeSH: C536616
OMIM: 600705;

Genes:
Phenotypes
1 HP:0003011Abnormality of the musculature
2 HP:0001596Alopecia
3 HP:0002289Alopecia universalis
4 HP:0000141Amenorrhea
5 HP:0001156BrachydactylyHP:0040283
6 HP:0002014Diarrhea
7 HP:0002857Genu valgum
8 HP:0000013Hypoplasia of the uterus
9 HP:0002024Malabsorption
10 HP:0008180Mildly elevated creatine kinase
11 HP:0009771Osteolytic defects of the phalanges of the hand
12 HP:0001763Pes planus
13 HP:0010049Short metacarpalHP:0040283
14 HP:0010743Short metatarsalHP:0040283
15 HP:0004322Short stature
16 HP:0003712Skeletal muscle hypertrophy
17 HP:0003745Sporadic
Disease Causing ClinVar Variants