loading...| Preferred Name |
Rhizomelic chondrodysplasia punctata |
| ID |
http://www.orpha.net/ORDO/Orphanet_177 |
| alternative_term |
RCDP |
| definition |
A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177 |
| has_age_of_onset |
Antenatal Neonatal |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
OMIM:222765 OMIM:215100 MeSH:D018902 OMIM:600121 ICD-11:LD24.04 OMIM:616716 ICD-10:Q77.3 UMLS:C0282529 |
| label |
Rhizomelic chondrodysplasia punctata |
| notation |
ORPHA:177 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_93442 http://www.orpha.net/ORDO/Orphanet_68385 http://www.orpha.net/ORDO/Orphanet_3276 http://www.orpha.net/ORDO/Orphanet_225686 |
| prefixIRI |
ORDO:Orphanet_177 |
| prefLabel |
Rhizomelic chondrodysplasia punctata |
| present_in |
United States AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_93442 http://www.orpha.net/ORDO/Orphanet_68385 http://www.orpha.net/ORDO/Orphanet_3276 http://www.orpha.net/ORDO/Orphanet_225686 |
| subClassOf |