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loading...| Preferred Name |
Malformation syndrome with hamartosis |
|
| Synonyms |
Dysmorphologic diseases with phakomatosis |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_98196 |
|
| alternative_term |
Dysmorphologic diseases with phakomatosis |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98196 |
|
| hasDbXref |
UMLS:C5680230 |
|
| label |
Malformation syndrome with hamartosis |
|
| notation |
ORPHA:98196 Category |
|
| prefixIRI |
ORDO:Orphanet_98196 |
|
| prefLabel |
Malformation syndrome with hamartosis |
|
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_183530 |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_98196 | CCONT | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_98196 | EFO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_98196 | HSPO | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_98196 | CCONT | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_98196 | EFO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_98196 | HSPO | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_13213 | HRDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0020063 | KTAO | LOOM |