PedAM

Pediatric Disease Annotations & Medicines


	osteochondroma

Disease ID	950
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	D015831
SNOMED-CT	SNOMEDCT_US_2016_09_01:307573009;SNOMEDCT_US_2016_09_01:443093007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:17) C0008479 \| chondrosarcoma \| 4 C0029463 \| osteosarcoma \| 2 C0080178 \| spina bifida \| 1 C0007286 \| carpal tunnel syndrome \| 1 C0039984 \| thoracic outlet syndrome \| 1 C0032326 \| pneumothorax \| 1 C0006444 \| bursitis \| 1 C0014084 \| ollier's disease \| 1 C0259779 \| fibrous dysplasia \| 1 C0392548 \| cauda equina syndrome \| 1 C0442874 \| neuropathy \| 1 C0013338 \| growth hormone deficiency \| 1 C0016045 \| fibroma \| 1 C0023798 \| lipoma \| 1 C0040053 \| thrombosis \| 1 C0037928 \| myelopathy \| 1 C0016063 \| fibrous dysplasia of bone \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) PTPN11 \| 5781 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 2131 \| EXT1 \| infer 2132 \| EXT2 \| infer
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	950
Disease	osteochondroma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:27) HP:0006765 \| Chondrosarcoma \| 4 HP:0002762 \| Multiple exostoses \| 4 HP:0003083 \| Dislocated radius \| 2 HP:0002625 \| Blood clot in a deep vein \| 2 HP:0002669 \| Osteosarcoma \| 2 HP:0003691 \| Scapula alata \| 2 HP:0002176 \| Spinal cord compression \| 2 HP:0012531 \| Pain \| 2 HP:0100730 \| Bronchogenic cyst \| 1 HP:0003419 \| Low back pain \| 1 HP:0100777 \| Exostoses \| 1 HP:0000324 \| Asymmetry of face \| 1 HP:0002196 \| Myelopathy \| 1 HP:0005857 \| Cervical spina bifida \| 1 HP:0002202 \| Pleural effusion \| 1 HP:0002414 \| Spina bifida \| 1 HP:0002107 \| Collapsed lung \| 1 HP:0010622 \| Neoplasm of the skeletal system \| 1 HP:0010766 \| Ectopic calcification \| 1 HP:0100246 \| Osteoma \| 1 HP:0010614 \| Fibroma \| 1 HP:0003298 \| Spina bifida occulta \| 1 HP:0003406 \| Peripheral nerve compression \| 1 HP:0000824 \| Growth hormone deficiency \| 1 HP:0000473 \| Spasmodic torticollis \| 1 HP:0003418 \| Back pain \| 1 HP:0012032 \| Lipoma \| 1

Disease ID	950
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)
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All Snps(Total Genotypes:0)
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GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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