loading...| Preferred Name | hereditary hemophagocytic lymphohistiocytosis | |
| Synonyms |
genetic hemophagocytic lymphohistiocytosis genetic hemophagocytic syndrome familial hemophagocytic lymphohistiocytosis primary hemophagocytic lymphohistiocytosis |
|
| Definitions |
An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0015541 |
|
| database_cross_reference |
Orphanet:540 ICD9:238.79 OMIMPS:267700 SCTID:398250003 UMLS:C0272199 MEDGEN:78797 MedDRA:10070904 GARD:6589 |
|
| definition |
An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual. |
|
| has_exact_synonym |
genetic hemophagocytic lymphohistiocytosis genetic hemophagocytic syndrome familial hemophagocytic lymphohistiocytosis primary hemophagocytic lymphohistiocytosis |
|
| id |
MONDO:0015541 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare 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#disease_grouping http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
hereditary hemophagocytic lymphohistiocytosis |
|
| notation |
MONDO:0015541 |
|
| preferred label |
hereditary hemophagocytic lymphohistiocytosis |
|
| prefLabel |
hereditary hemophagocytic lymphohistiocytosis |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_540 http://linkedlifedata.com/resource/umls/id/C0272199 http://identifiers.org/medgen/78797 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0015541 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0015541 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0015541 | DOVES | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0015541 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0015541 | EFO | LOOM |