loading...| Preferred Name |
rhizomelic chondrodysplasia punctata |
| Synonyms |
RCDP rhizomelic dwarfism rhizomelic chondrodysplasia punctata syndrome chondrodysplasia punctata, rhizomelic form rhizomelic chondrodysplasia punctata |
| Definitions |
Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0015776 |
| database_cross_reference |
SCTID:56692003 MESH:D018902 DOID:2580 ICD10CM:E71.540 NCIT:C85047 Orphanet:177 GARD:0013160 OMIMPS:215100 UMLS:C0282529 |
| definition |
Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth. |
| exactMatch |
http://purl.obolibrary.org/obo/DOID_2580 http://identifiers.org/snomedct/56692003 http://identifiers.org/mesh/D018902 http://purl.obolibrary.org/obo/Orphanet_177 https://omim.org/phenotypicSeries/PS215100 http://purl.bioontology.org/ontology/ICD10CM/E71.540 |
| has_exact_synonym |
RCDP rhizomelic dwarfism rhizomelic chondrodysplasia punctata syndrome chondrodysplasia punctata, rhizomelic form rhizomelic chondrodysplasia punctata |
| id |
MONDO:0015776 |
| in_subset | |
| label |
rhizomelic chondrodysplasia punctata |
| notation |
MONDO:0015776 |
| prefLabel |
rhizomelic chondrodysplasia punctata |
| seeAlso |
https://rarediseases.info.nih.gov/diseases/13160/rhizomelic-chondrodysplasia-punctata |
| treeView |
http://purl.obolibrary.org/obo/MONDO_0017986 |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017986 |