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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | non-syndromic amelia | |
| Synonyms |
isolated amelia amelia nonsyndromic amelia |
|
| Definitions |
A congenital malformation characterized by the complete absence of all limbs. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0017419 |
|
| altLabel |
isolated amelia amelia nonsyndromic amelia
|
|
| definition |
A congenital malformation characterized by the complete absence of all limbs.
|
|
| has_broad_synonym |
amelia
|
|
| has_exact_synonym |
nonsyndromic amelia
|
|
| has_related_synonym |
isolated amelia
|
|
| label |
non-syndromic amelia
|
|
| prefixIRI |
MONDO:0017419
|
|
| prefLabel |
non-syndromic amelia
|
|
| textual definition |
A congenital malformation characterized by the complete absence of all limbs.
|
|
| subClassOf |
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|---|---|---|---|---|
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| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0017419 | MONDO | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0017419 | CCONT | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0017419 | EFO | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0017419 | MONDO | LOOM |
| http://www.orpha.net/ORDO/Orphanet_294925 | ORDO | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0017419 | CCONT | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0017419 | EFO | LOOM |