Experimental Factor Ontology

Last uploaded: November 18, 2024
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

closeMatch

http://identifiers.org/meddra/10070904

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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_540

http://linkedlifedata.com/resource/umls/id/C0272199

http://identifiers.org/medgen/78797

http://identifiers.org/snomedct/398250003

https://omim.org/phenotypicSeries/PS267700

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

subClassOf

http://purl.obolibrary.org/obo/MONDO_0003778

http://purl.obolibrary.org/obo/MONDO_0015540

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