Human Phenotype Ontology 
Grandparent Node:
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Abnormal abdomen morphology (HP:0001438)help
Parent Node:
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Abnormal liver morphology (HP:0410042)help
Parent Node:
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Abnormal spleen morphology (HP:0025408)help
Parent Node:
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Visceromegaly (HP:0003271)help
..Starting node
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Hepatosplenomegaly (HP:0001433)help
Term ID: 1433
Name: Hepatosplenomegaly
Synonym: Enlarged liver and spleen
Definition: Simultaneous enlargement of the liver and spleen.
Comments:
Reference: HP:0001433
Genes and Diseases:
 
       Child Nodes:

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..expandHepatomegaly (HP:0002240) help
..expandSplenomegaly (HP:0001744) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001433HP:0001433Hepatosplenomegaly0ABCA1 CL E G H1931150ORPHA1128029600046
HP:0001433HP:0001433Hepatosplenomegaly0ADAR CL E G H10351ORPHA11122225146920
HP:0001433HP:0001433Hepatosplenomegaly0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM131215672606941
HP:0001433HP:0001433Hepatosplenomegaly0CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11841373611492
HP:0001433HP:0001433Hepatosplenomegaly0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11351527601047
HP:0001433HP:0001433Hepatosplenomegaly0CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM110092025602727
HP:0001433HP:0001433Hepatosplenomegaly0COG2 CL E G H22796435934ORPHA12286546606974
HP:0001433HP:0001433Hepatosplenomegaly0COG4 CL E G H25839263501ORPHA133918620606976
HP:0001433HP:0001433Hepatosplenomegaly0FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM144423151607901
HP:0001433HP:0001433Hepatosplenomegaly0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14177606463
HP:0001433HP:0001433Hepatosplenomegaly0GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM17844180607839
HP:0001433HP:0001433Hepatosplenomegaly0GLRX5 CL E G H51218616860Sideroblastic anemia 3, pyridoxine-refractory616860C4225155OMIM111120134609588
HP:0001433HP:0001433Hepatosplenomegaly0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA194723657603824
HP:0001433HP:0001433Hepatosplenomegaly0GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA118724945612757
HP:0001433HP:0001433Hepatosplenomegaly0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA11394492602646
HP:0001433HP:0001433Hepatosplenomegaly0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001433HP:0001433Hepatosplenomegaly0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM117885391252800
HP:0001433HP:0001433Hepatosplenomegaly0IFIH1 CL E G H6413551ORPHA1117018873606951
HP:0001433HP:0001433Hepatosplenomegaly0IFNGR1 CL E G H3459209950Disseminated atypical mycobacterial infection209950C0694566OMIM13115439107470
HP:0001433HP:0001433Hepatosplenomegaly0IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM13066008147730
HP:0001433HP:0001433Hepatosplenomegaly0LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM13576518600024
HP:0001433HP:0001433Hepatosplenomegaly0LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM15616617613497
HP:0001433HP:0001433Hepatosplenomegaly0LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA155414154611761
HP:0001433HP:0001433Hepatosplenomegaly0LPL CL E G H4023238600Hyperlipoproteinemia, type I238600C0023817OMIM16886677609708
HP:0001433HP:0001433Hepatosplenomegaly0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA1577380142408
HP:0001433HP:0001433Hepatosplenomegaly0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM14639717170993
HP:0001433HP:0001433Hepatosplenomegaly0PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM17729498176801
HP:0001433HP:0001433Hepatosplenomegaly0RNASEH2A CL E G H1053551ORPHA140418518606034
HP:0001433HP:0001433Hepatosplenomegaly0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM140418518606034
HP:0001433HP:0001433Hepatosplenomegaly0RNASEH2B CL E G H7962151ORPHA142625671610326
HP:0001433HP:0001433Hepatosplenomegaly0RNASEH2C CL E G H8415351ORPHA130724116610330
HP:0001433HP:0001433Hepatosplenomegaly0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001433HP:0001433Hepatosplenomegaly0SAMHD1 CL E G H2593951ORPHA174615925606754
HP:0001433HP:0001433Hepatosplenomegaly0SCYL1 CL E G H57410466794ORPHA112814372607982
HP:0001433HP:0001433Hepatosplenomegaly0SLC29A3 CL E G H55315168569ORPHA144723096612373
HP:0001433HP:0001433Hepatosplenomegaly0SLC4A1 CL E G H6521611590Renal tubular acidosis, distal, with hemolytic anemia611590C1969038OMIM154911027109270
HP:0001433HP:0001433Hepatosplenomegaly0SP110 CL E G H343179124ORPHA14375401604457
HP:0001433HP:0001433Hepatosplenomegaly0STAT1 CL E G H6772391487ORPHA155711362600555
HP:0001433HP:0001433Hepatosplenomegaly0STXBP2 CL E G H6813613101Hemophagocytic lymphohistiocytosis, familial, 5613101C2751293OMIM185211445601717
HP:0001433HP:0001433Hepatosplenomegaly0TALDO1 CL E G H6888101028ORPHA121011559602063
HP:0001433HP:0001433Hepatosplenomegaly0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM121011559602063
HP:0001433HP:0001433Hepatosplenomegaly0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA1106911634602272
HP:0001433HP:0001433Hepatosplenomegaly0TNFSF11 CL E G H8600259710Osteopetrosis autosomal recessive 2259710C1850126OMIM124611926602642
HP:0001433HP:0001433Hepatosplenomegaly0TREX1 CL E G H1127751ORPHA141812269606609
HP:0001433HP:0001433Hepatosplenomegaly0TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM141812269606609
HP:0001433HP:0001433Hepatosplenomegaly0UNC13D CL E G H201294608898Hemophagocytic lymphohistiocytosis, familial, 3608898C1837174OMIM1108523147608897
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001433HP:0001433Hepatosplenomegaly0BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0139551100113705
HP:0001433HP:0001433Hepatosplenomegaly0BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0175431101600185
HP:0001433HP:0001433Hepatosplenomegaly0CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM08728178613734
HP:0001433HP:0001433Hepatosplenomegaly0CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA013051787600160
HP:0001433HP:0001433Hepatosplenomegaly0CTSA CL E G H5476256540Combined deficiency of sialidase AND beta galactosidase256540C0268233OMIM03489251613111
HP:0001433HP:0001433Hepatosplenomegaly0FGFR2 CL E G H2263313855ORPHA06853689176943
HP:0001433HP:0001433Hepatosplenomegaly0FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM06853689176943
HP:0001433HP:0001433Hepatosplenomegaly0KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA04806407190070
HP:0001433HP:0001433Hepatosplenomegaly0NPHP3 CL E G H27031267010Meckel syndrome type 7267010C2673885OMIM011067907608002
HP:0001433HP:0001433Hepatosplenomegaly0PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0522526144610355
HP:0001433HP:0001433Hepatosplenomegaly0PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0174117068608092
HP:0001433HP:0001433Hepatosplenomegaly0RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM02529905605313
HP:0001433HP:0001433Hepatosplenomegaly0SC5D CL E G H6309607330Lathosterolosis607330C1846421OMIM024210547602286
HP:0001433HP:0001433Hepatosplenomegaly0SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA018986770600993
HP:0001433HP:0001433Hepatosplenomegaly0STEAP3 CL E G H55240300298ORPHA09424592609671
HP:0001433HP:0001433Hepatosplenomegaly0TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0297711998191170
HP:0001433HP:0001433Hepatosplenomegaly0XK CL E G H7504300842McLeod neuroacanthocytosis syndrome300842C0398568OMIM021812811314850


Genes (58) :ABCA1 ADAR ALG9 BRCA1 BRCA2 CA2 CAV1 CCDC115 CDKN2A CLCN7 COG2 COG4 CTSA FERMT3 FGFR2 GBA GBE1 GLRX5 GNE GPIHBP1 GPR35 HEXB IDUA IFIH1 IFNGR1 IL2RA KRAS LBR LIPA LMF1 LPL MST1 NPHP3 PALB2 PALLD PEX2 PSAP RBM8A RNASEH2A RNASEH2B RNASEH2C SAMHD1 SC5D SCYL1 SLC29A3 SLC4A1 SMAD4 SP110 STAT1 STEAP3 STXBP2 TALDO1 TCF4 TNFSF11 TP53 TREX1 UNC13D XK

Diseases (47) :31150 51 608776 1333 259730 612526 616828 611490 435934 263501 256540 612840 313855 614592 608013 232500 616860 3166 444490 171 268800 607014 209950 606367 215140 278000 238600 267010 614866 610539 274000 610333 610329 607330 466794 168569 611590 79124 391487 300298 613101 101028 606003 259710 225750 608898 300842
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.