loading...| Preferred Name |
Dyggve-Melchior-Clausen disease |
| ID |
http://www.orpha.net/ORDO/Orphanet_239 |
| definition |
A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests) |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239 |
| has_age_of_onset |
Infancy |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
ICD-10:Q77.7 UMLS:C0265286 OMIM:304950 MeSH:C535726 ICD-11:LD24.3 OMIM:223800 |
| label |
Dyggve-Melchior-Clausen disease |
| notation |
ORPHA:239 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_611327 |
| prefixIRI |
ORDO:Orphanet_239 |
| prefLabel |
Dyggve-Melchior-Clausen disease |
| present_in |
Worldwide AND has_cases/families_value : 100.0 (Case) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_611327 |
| subClassOf |