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Experimental Factor Ontology
Last uploaded:
November 18, 2024
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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 |
|
| closeMatch | ||
| database_cross_reference |
MedDRA:10001926 UMLS:C0002447 SCTID:62588002 NCIT:C34370 MEDGEN:8014 Orphanet:294925 GARD:21179 HP:0009827
|
|
| definition |
A congenital malformation characterized by the complete absence of all limbs.
|
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0002447 http://purl.obolibrary.org/obo/Orphanet_294925 http://purl.obolibrary.org/obo/NCIT_C34370 |
|
| has_broad_synonym |
amelia
|
|
| has_exact_synonym |
nonsyndromic amelia
|
|
| has_related_synonym |
isolated amelia
|
|
| IAO_0000233 | ||
| id |
MONDO:0017419
|
|
| 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 amelia
|
|
| notation |
MONDO:0017419
|
|
| preferred label |
non-syndromic amelia
|
|
| prefLabel |
non-syndromic amelia
|
|
| subClassOf |
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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 | DOVES | 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 | DOVES | LOOM |