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:
expandGenetic Diseases, X-Linked (D040181)
Parent Node:
expandPigmentation Disorders (D010859)
Parent Node:
expandSilver-Russell Syndrome (D056730)
..Starting node
..expandRussell-Silver Syndrome, X-Linked (C562446)

       Child Nodes:



 Sister Nodes: 
..expandRussell-Silver Syndrome, X-Linked (C562446)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:9925
Name:Russell-Silver Syndrome, X-Linked
Definition:
Alternative IDs:
ParentIDs:MESH:D010859|MESH:D040181|MESH:D056730
TreeNumbers:C05.660.207.925/C562446 |C16.131.077.855/C562446 |C16.131.260.870/C562446 |C16.320.180.870/C562446 |C16.320.240.937/C562446 |C16.320.322/C562446 |C17.800.621/C562446
Synonyms:Russell-Silver-Like Syndrome with Skin Pigmentation
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Skin disease
Reference: MedGen: C562446
MeSH: C562446
OMIM: 312780;

Genes:
Phenotypes
1 HP:0001417X-linked inheritance
2 HP:0000957Cafe-au-lait spot
3 HP:0001511Intrauterine growth retardation
4 HP:0000325Triangular face
Disease Causing ClinVar Variants