loading...| Preferred Name |
Craniometaphyseal dysplasia |
| ID |
http://www.orpha.net/ORDO/Orphanet_1522 |
| definition |
Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522 |
| has_age_of_onset |
Childhood |
| has_inheritance |
Autosomal recessive Autosomal dominant |
| hasDbXref |
ICD-10:Q78.8 ICD-11:LD24.1Y OMIM:123000 OMIM:218400 UMLS:C3887594 |
| label |
Craniometaphyseal dysplasia |
| notation |
ORPHA:1522 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_183542 |
| prefixIRI |
ORDO:Orphanet_1522 |
| prefLabel |
Craniometaphyseal dysplasia |
| present_in |
Worldwide AND has_cases/families_value : 160.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_183542 |
| subClassOf |