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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   osteochondroma
  

Disease ID 1591
Disease osteochondroma
Definition
A cartilage-capped benign tumor that often appears as a stalk on the surface of bone. It is probably a developmental malformation rather than a true neoplasm and is usually found in the metaphysis of the distal femur, proximal tibia, or proximal humerus. Osteochondroma is the most common of benign bone tumors.
Synonym
cartilaginous exostoses
cartilaginous exostosis
chondroma of bone
chondroma of bone (disorder)
chondrosteoma
chondrosteomas
ecchondroma
exostoses, cartilaginous
exostoses, osteocartilaginous
exostosis, cartilaginous
exostosis, osteocartilaginous
osteocartilaginous exostoses
osteocartilaginous exostosis
osteochondroma (disorder)
osteochondroma (morphologic abnormality)
osteochondroma [disease/finding]
osteochondroma, benign
osteochondromas
UMLS
C0029423
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:16)
C0008479  |  chondrosarcoma  |  4
C0029463  |  osteosarcoma  |  2
C0392548  |  cauda equina syndrome  |  1
C0016037  |  fibrodysplasia ossificans progressiva  |  1
C0037928  |  myelopathy  |  1
C0259779  |  fibrous dysplasia  |  1
C0039984  |  thoracic outlet syndrome  |  1
C0014084  |  ollier's disease  |  1
C0080178  |  spina bifida  |  1
C0040053  |  thrombosis  |  1
C0006444  |  bursitis  |  1
C0032326  |  pneumothorax  |  1
C0008479  |  chondrosarcomas  |  1
C0007286  |  carpal tunnel syndrome  |  1
C0023798  |  lipoma  |  1
C0016063  |  fibrous dysplasia of bone  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
5781  |  PTPN11  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:3)
2131  |  EXT1  |  CIPHER
2132  |  EXT2  |  CIPHER
5781  |  PTPN11  |  CTD_human
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1591
Disease osteochondroma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:28)
HP:0002762  |  Multiple exostoses  |  5
HP:0006765  |  Chondrosarcoma  |  5
HP:0002176  |  Spinal cord compression  |  3
HP:0002669  |  Osteosarcoma  |  2
HP:0002625  |  Blood clot in a deep vein  |  2
HP:0003083  |  Dislocated radius  |  2
HP:0003691  |  Scapula alata  |  1
HP:0010614  |  Fibroma  |  1
HP:0005857  |  Cervical spina bifida  |  1
HP:0002107  |  Collapsed lung  |  1
HP:0000473  |  Spasmodic torticollis  |  1
HP:0003298  |  Spina bifida occulta  |  1
HP:0003418  |  Back pain  |  1
HP:0002196  |  Myelopathy  |  1
HP:0100777  |  Exostoses  |  1
HP:0012032  |  Lipoma  |  1
HP:0012531  |  Pain  |  1
HP:0100730  |  Bronchogenic cyst  |  1
HP:0002664  |  Neoplasia  |  1
HP:0003406  |  Peripheral nerve compression  |  1
HP:0000324  |  Asymmetry of face  |  1
HP:0010622  |  Neoplasm of the skeletal system  |  1
HP:0002202  |  Pleural effusion  |  1
HP:0010766  |  Ectopic calcification  |  1
HP:0100246  |  Osteoma  |  1
HP:0003470  |  Inability to move  |  1
HP:0003419  |  Low back pain  |  1
HP:0002414  |  Spina bifida  |  1
Disease ID 1591
Disease osteochondroma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:8)
C1608408  |  malignant transformation
C1393529  |  vascular complications
C1384606  |  dyspareunia
C1335938  |  secondary chondrosarcoma
C0852866  |  cervical cord compression
C0850304  |  popliteal aneurysm
C0042133  |  leiomyoma
C0037928  |  myelopathy
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:3)
C1393529  |  vascular complications  |  2
C0037928  |  myelopathy  |  1
C1608408  |  malignant transformation  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1591
Disease osteochondroma
Case(Waiting for update.)