Preferred Name |
Craniometaphyseal dysplasia |
|
Synonyms |
CMD |
|
ID |
http://www.limics.org/hrdo/rdfns#pat_id_1689 |
|
ageOfOnset |
Childhood |
|
altLabel |
CMD |
|
id_Medline |
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Craniometaphyseal%5Btw%5D |
|
id_MIM |
123000 218400 |
|
id_OMS |
Q78.8 |
|
id_Orpha |
1522 |
|
id_SNOMEDCT |
36601008 |
|
inheritance |
Autosomal dominant Autosomal recessive |
|
patType |
malformation syndrome |
|
prefixIRI |
hrdo:pat_id_1689 |
|
prefLabel |
Craniometaphyseal dysplasia |
|
prevalence |
<1 / 1 000 000 |
|
subClassOf |
Create mapping