Preferred Name | skeletal dysplasia | |
Synonyms |
primary osteodysplasia Mendelian skeletal dysplasia primary bone dysplasia primary skeletal dysplasia |
|
Definitions |
Any Mendelian diseases that affects growth and development of the skeleton. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0018230 |
|
database_cross_reference |
Orphanet:364526 UMLS:C0410528 MEDGEN:98053 |
|
definition |
Any Mendelian diseases that affects growth and development of the skeleton. |
|
exactMatch |
http://linkedlifedata.com/resource/umls/id/C0410528 |
|
has_exact_synonym |
primary osteodysplasia Mendelian skeletal dysplasia primary bone dysplasia primary skeletal dysplasia |
|
IAO_0000233 | ||
id |
MONDO:0018230 |
|
in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
label |
skeletal dysplasia |
|
notation |
MONDO:0018230 |
|
preferred label |
skeletal dysplasia |
|
prefLabel |
skeletal dysplasia |
|
subClassOf | ||
excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015958 |