loading...| Preferred Name | Chondrodysplasia Punctata [Disease/Finding] | |
| Synonyms |
Dysplasia Epiphysialis Punctata Epiphyses, Stippled Stippled Epiphyses Chondrodystrophia Calcificans Congenita Chondrodysplasia Punctata |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000000768 |
|
| altLabel |
Dysplasia Epiphysialis Punctata Epiphyses, Stippled Stippled Epiphyses Chondrodystrophia Calcificans Congenita Chondrodysplasia Punctata |
|
| cui |
C0008445 |
|
| MESH DEFINITION |
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form. |
|
| MESH DUI |
D002806 |
|
| MeSH name |
Chondrodysplasia Punctata |
|
| MESH UI |
M0004308 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000000768 |
|
| NUI |
N0000000768 |
|
| prefLabel |
Chondrodysplasia Punctata [Disease/Finding] |
|
| SNOMED CID |
360507004 278715001 205486004 |
|
| tui |
T019 |
|
| subClassOf |