loading...| Preferred Name | non-syndromic limb reduction defect | |
| Synonyms |
isolated limb reduction defect nonsyndromic limb reduction defect non-syndromic limb hypoplasia |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019713 |
|
| database_cross_reference |
UMLS:C5680277 Orphanet:93457 MEDGEN:1842256 GARD:19210 |
|
| has_exact_synonym |
nonsyndromic limb reduction defect non-syndromic limb hypoplasia |
|
| has_related_synonym |
isolated limb reduction defect |
|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/5114 https://github.com/monarch-initiative/mondo/issues/5114#issuecomment-1727925308 |
|
| id |
MONDO:0019713 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
non-syndromic limb reduction defect |
|
| notation |
MONDO:0019713 |
|
| preferred label |
non-syndromic limb reduction defect |
|
| prefLabel |
non-syndromic limb reduction defect |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_93457 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0019713 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019713 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019713 | DOVES | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_93457 | ORDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019713 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019713 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019713 | DOVES | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_12368 | HRDO | LOOM |