Online Mendelian Inheritance in Man - HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/608898 http://purl.bioontology.org/ontology/OMIM/608898
Preferred Name	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
Synonyms	HPLH3 FHL3 HLH3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HPLH3 FHL3 HLH3
prefLabel	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
Gene Symbol	HLH3 UNC13D MUNC13-4 FHL3 HPLH3
notation	608898
Scope Statement	Caused by mutation in the unc-13 homolog D gene (UNC13D, 608897.0001) [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU065684 http://purl.bioontology.org/ontology/OMIM/MTHU065686 http://purl.bioontology.org/ontology/OMIM/MTHU065687 http://purl.bioontology.org/ontology/OMIM/MTHU065685 http://purl.bioontology.org/ontology/OMIM/MTHU002090 http://purl.bioontology.org/ontology/OMIM/MTHU013529 http://purl.bioontology.org/ontology/OMIM/MTHU012652 http://purl.bioontology.org/ontology/OMIM/MTHU036683 http://purl.bioontology.org/ontology/OMIM/MTHU065688 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	17q25.1
tui	T047
cui	C1837174

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