loading...| Preferred Name |
Microcephalic osteodysplastic primordial dwarfism type II |
|
| Synonyms |
MOPD type II |
|
| Definitions |
A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2637 |
|
| alternative_term |
MOPD type II Majewski osteodysplastic primordial dwarfism type II |
|
| definition |
A rare bone disease and a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 |
|
| has_age_of_onset |
Antenatal Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
ICD-10:Q87.1 UMLS:C0432246 ICD-11:LD20.2 OMIM:210720 MeSH:C565898 |
|
| label |
Microcephalic osteodysplastic primordial dwarfism type II |
|
| notation |
ORPHA:2637 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_240371 http://www.orpha.net/ORDO/Orphanet_324761 |
|
| prefixIRI |
ORDO:Orphanet_2637 |
|
| prefLabel |
Microcephalic osteodysplastic primordial dwarfism type II |
|
| present_in |
Worldwide AND has_cases/families_value : 150.0 (Case) Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_240371 http://www.orpha.net/ORDO/Orphanet_324761 |
|
| subClassOf |