PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Hyperostosis, Cortical, Congenital

Synonyms
Definitions

A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability.

ID

http://www.phoc.org.cn/pmo/class/PMO_00037659

Database_Cross_Reference

NCI_NICHD:C118423

SNOMEDCT_US:24752008

ICD10CM:M89.8

OMIM:120150

NCI:C84645

MTH:NOCODE

SNOMEDCT_US:123258003

SNMI:D1-61140

RCD:PG57.

MSH:D006958

SNM:D-3419

CHV:0000006429

OMIM:114000

NCI:C118423

MDR:10073206

NDFRT:N0000001601

DO:DOID:4257

MEDCIN:316200

MDR:10073208

Definition

A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability.

label

Hyperostosis, Cortical, Congenital

MCID

MC00006556

PMOID

PMO:00037659

prefixIRI

pmo:PMO_00037659

prefLabel

Hyperostosis, Cortical, Congenital

Synonym

Canine cortical hyperostosis -RETIRED-

Caffey's disease

Cortical Hyperostoses, Infantile

Infantile Cortical Hyperostoses

Hyperostosis, Cortical, Congenital [Disease/Finding]

Caffey disease

Cortical Hyperostoses, Congenital

Congenital Hyperostosis, Cortical

Caffey's Disease, Familial

Caffey-De Toni-Silvermann Syndrome

Cortical Congenital Hyperostosis

infantile cortical hyperostosis

CAFFEY DISEASE

Infantile cortical hyperostosis (disorder)

Familial Caffeys Disease

Disease, Caffey

Familial Infantile Cortical Hyperostosis

caffey syndrome

Disease, Familial Caffey's

Congenital Cortical Hyperostosis

Infantile cortical hyperostosis

Infantile Cortical Hyperostosis

Cortical Congenital Hyperostoses

Congenital Hyperostoses, Cortical

Familial infantile cortical hyperostosis

Caffey De Toni Silvermann Syndrome

Familial Caffey's Disease

infantile cortical hyperostosis (diagnosis)

CORTICAL CONGEN HYPEROSTOSIS

caffey disease

Fam infant cortical hyperostos

Hyperostoses, Congenital Cortical

Congenital Cortical Hyperostoses

Familial Caffey Disease

Hyperostoses, Infantile Cortical

Hyperostosis, infantile cortical

Hyperostoses, Cortical Congenital

Cortical Hyperostosis, Congenital

Syndrome, Caffey-De Toni-Silvermann

Infantile cortical hyperostoses

Canine cortical hyperostosis (disorder)

Caffey syndrome

CORTICAL HYPEROSTOSIS CONGEN

Cortical Hyperostosis, Infantile

Hyperostosis, Congenital Cortical

CONGEN HYPEROSTOSIS CORTICAL

caffey's disease

Canine cortical hyperostosis

cortical congenital hyperostosis

Caffey Disease

Coffey's disease

Hyperostosis, Infantile Cortical

Hyperostosis, Cortical Congenital

INFANTILE CORTICAL HYPEROSTOSIS

HYPEROSTOSIS CORTICAL CONGEN

Tree Number

T9.3.9.13.3

T9.8.4.19.11

T9.3.9.22.13.11

T9.8.1.7

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00013956

http://www.phoc.org.cn/pmo/class/PMO_00085641

http://www.phoc.org.cn/pmo/class/PMO_00036719

http://www.phoc.org.cn/pmo/class/PMO_00036767

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