loading...| Preferred Name | spondyloepiphyseal dysplasia congenita | |
| Synonyms |
congenital spondyloepiphyseal dysplasia Spranger-Wiedemann disease spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia, congenital type Spondyloepiphyseal Dysplasia, Congenital SED congenita SEDC |
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| Definitions |
A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008471 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0008471 |
|
| database_cross_reference |
OMIM:183900 MedDRA:10062920 MESH:C535788 ICD10CM:Q77.7 MEDGEN:412530 Orphanet:94068 NANDO:2201348 SCTID:278713008 UMLS:C2745959 DOID:14789 GARD:4987 ICD9:756.9 NORD:1733 |
|
| definition |
A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies. |
|
| has_exact_synonym |
Spranger-Wiedemann disease spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia, congenital type Spondyloepiphyseal Dysplasia, Congenital SED congenita SEDC |
|
| has_related_synonym |
congenital spondyloepiphyseal dysplasia |
|
| IAO_0000233 | ||
| id |
MONDO:0008471 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
spondyloepiphyseal dysplasia congenita |
|
| notation |
MONDO:0008471 |
|
| preferred label |
spondyloepiphyseal dysplasia congenita |
|
| prefLabel |
spondyloepiphyseal dysplasia congenita |
|
| see also |
https://rarediseases.info.nih.gov/diseases/4987/spondyloepiphyseal-dysplasia-congenita |
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| skos_broadMatch | ||
| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_14789 http://linkedlifedata.com/resource/umls/id/C2745959 http://identifiers.org/snomedct/278713008 http://identifiers.org/mesh/C535788 |
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| subClassOf |