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:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandBone Neoplasms (D001859)
Parent Node:
expandFoot Deformities, Congenital (D005532)
Parent Node:
expandHand Deformities, Congenital (D006228)
Parent Node:
expandOsteosarcoma (D012516)
..Starting node
..expandOslam syndrome (C537138)

       Child Nodes:



 Sister Nodes: 
..expandOslam syndrome (C537138)
..expandOsteosarcoma, Juxtacortical (D018217)
..expandOsteosarcoma, Retinoblastoma-Related (C566714)
..expandPremature aging, Okamoto type (C535270)
..expandSarcoma, Ewing (D012512) Child1
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8358
Name:Oslam syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D001859|MESH:D005532|MESH:D006228|MESH:D012516
TreeNumbers:C04.557.450.565.575.650/C537138 |C04.557.450.795.620/C537138 |C04.588.149/C537138 |C05.116.231/C537138 |C05.330.495/C537138 |C05.390.408/C537138 |C05.660.585.512.380/C537138 |C05.660.585.988.425/C537138 |C16.131.077/C537138 |C16.131.621.585.380/C537138 |C16.131.62
Synonyms:
Slim Mappings:Cancer|Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C537138
MeSH: C537138
OMIM: 165660;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001903Anemia
3 HP:0030084Clinodactyly
4 HP:0002664Neoplasm
5 HP:0002669Osteosarcoma
6 HP:0009466Radial deviation of finger
7 HP:0002974Radioulnar synostosis
Disease Causing ClinVar Variants