loading...| Preferred Name |
Blount disease |
| Synonyms |
Osteochondrosis deformans tibiae, familial infantile type tibia vara Osteochondrosis deformans tibiae familial infantile type osteochondrosis deformans tibiae tibia vara Blount Erlacher-Blount syndrome Blount's disease infantile tibia vara Blount-Barber syndrome Blount disease |
| Definitions |
Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0017194 |
| closeMatch | |
| database_cross_reference |
SCTID:79353000 ICD9:736.89 DOID:14798 GARD:0000916 NCIT:C118460 Orphanet:2768 MedDRA:10072255 MESH:C536237 |
| definition |
Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs. |
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C118460 http://identifiers.org/snomedct/79353000 http://purl.obolibrary.org/obo/DOID_14798 |
| has_exact_synonym |
Osteochondrosis deformans tibiae familial infantile type osteochondrosis deformans tibiae tibia vara Blount Blount's disease infantile tibia vara Blount disease |
| has_related_synonym |
Osteochondrosis deformans tibiae, familial infantile type tibia vara Erlacher-Blount syndrome Blount-Barber syndrome |
| id |
MONDO:0017194 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
| label |
Blount disease |
| notation |
MONDO:0017194 |
| prefLabel |
Blount disease |
| seeAlso |
https://rarediseases.info.nih.gov/diseases/916/blount-disease |
| treeView | |
| subClassOf |