Online Mendelian Inheritance in Man - HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/267700 http://purl.bioontology.org/ontology/OMIM/267700
Preferred Name	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1
Synonyms	FHLH HEMOPHAGOCYTIC RETICULOSIS, FAMILIAL FEL FHL1 RETICULOSIS, FAMILIAL HISTIOCYTIC HPLH HLH1 HPLH1 ERYTHROPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL FHL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL See more See less
Type	http://www.w3.org/2002/07/owl#Class

altLabel	FHLH HEMOPHAGOCYTIC RETICULOSIS, FAMILIAL FEL FHL1 RETICULOSIS, FAMILIAL HISTIOCYTIC HPLH HLH1 HPLH1 ERYTHROPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL FHL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL See more See less
prefLabel	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1
Gene Symbol	HPLH1 FHL1 HLH1
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU005994 http://purl.bioontology.org/ontology/OMIM/MTHU009684 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU009689 http://purl.bioontology.org/ontology/OMIM/MTHU000544 http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000014 http://purl.bioontology.org/ontology/OMIM/MTHU000780 http://purl.bioontology.org/ontology/OMIM/MTHU037935 http://purl.bioontology.org/ontology/OMIM/MTHU001643 http://purl.bioontology.org/ontology/OMIM/MTHU000212 http://purl.bioontology.org/ontology/OMIM/MTHU007426 http://purl.bioontology.org/ontology/OMIM/MTHU009681 http://purl.bioontology.org/ontology/OMIM/MTHU009695 http://purl.bioontology.org/ontology/OMIM/MTHU001376 http://purl.bioontology.org/ontology/OMIM/MTHU009691 http://purl.bioontology.org/ontology/OMIM/MTHU009693 http://purl.bioontology.org/ontology/OMIM/MTHU002090 http://purl.bioontology.org/ontology/OMIM/MTHU002543 http://purl.bioontology.org/ontology/OMIM/MTHU009688 http://purl.bioontology.org/ontology/OMIM/MTHU009687 http://purl.bioontology.org/ontology/OMIM/MTHU002997 http://purl.bioontology.org/ontology/OMIM/MTHU000164 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU009690 http://purl.bioontology.org/ontology/OMIM/MTHU009694 http://purl.bioontology.org/ontology/OMIM/MTHU002540 http://purl.bioontology.org/ontology/OMIM/MTHU009683 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU009512 http://purl.bioontology.org/ontology/OMIM/MTHU002630 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU009685 http://purl.bioontology.org/ontology/OMIM/MTHU036911 http://purl.bioontology.org/ontology/OMIM/MTHU009682 http://purl.bioontology.org/ontology/OMIM/MTHU009692 http://purl.bioontology.org/ontology/OMIM/MTHU009696 http://purl.bioontology.org/ontology/OMIM/MTHU009686 http://purl.bioontology.org/ontology/OMIM/MTHU036518 http://purl.bioontology.org/ontology/OMIM/MTHU009679 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU002606 See more See less
tui	T047
Gene Locus	9q21.3-q22
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	267700
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0272199 C4551514
OMIM Entry Type	5
OMIM MimType Value	perc

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