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:
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Nails, Malformed (D009264)
Parent Node:
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Steatocystoma Multiplex (D062685)
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Steatocystoma multiplex with natal teeth (C537487)

       Child Nodes:



 Sister Nodes: 
..expandSebocystomatosis (C580471)
..expandSteatocystoma multiplex with natal teeth (C537487)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10654
Name:Steatocystoma multiplex with natal teeth
Definition:
Alternative IDs:
ParentIDs:MESH:D009264|MESH:D062685
TreeNumbers:C16.131.831.350.856.500/C537487 |C16.320.850.250.856.500/C537487 |C17.800.529.594.500/C537487 |C17.800.804.350.856.500/C537487 |C17.800.827.250.856.500/C537487 |C23.300.820/C537487
Synonyms:Natal teeth and steatocystoma multiplex
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Pathology (anatomical condition)|Skin disease
Reference: MedGen: C537487
MeSH: C537487
OMIM: 184510;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001597Abnormality of the nail
3 HP:0000695Natal tooth
4 HP:0012035Steatocystoma multiplex
Disease Causing ClinVar Variants