Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the immune system (HP:0002715)help
Parent Node:
expandAbnormality of the lymphatic system (HP:0100763)help
..Starting node
..expandAbnormality of the lymph nodes (HP:0002733)help
Term ID: 2733
Name: Abnormality of the lymph nodes
Synonym: Abnormal lymph node histology; Abnormality of the lymph nodes
Definition: A lymph node abnormality.
Comments:
Reference: HP:0002733
Genes and Diseases:
 
       Child Nodes:
........expandLymphadenopathy (HP:0002716) help
................... HP:0002729 Follicular hyperplasia
................... HP:0002730 Chronic noninfectious lymphadenopathy
................... HP:0008940 Generalized lymphadenopathy
................... HP:0025289 Cervical lymphadenopathy
................... HP:0100721 Mediastinal lymphadenopathy
........expandLymph node hypoplasia (HP:0002732) help
........expandLymphadenitis (HP:0002840) help
........expandAbsence of lymph node germinal center (HP:0002849) help
........expandAbnormality of mesenteric lymph nodes (HP:0025042) help
................... HP:0025043 Enlarged mesenteric lymph node

 Sister Nodes: 
..expandAbnormal lymphatic vessel morphology (HP:0100766) help
..expandAbnormal pulmonary lymphatics (HP:0006529) help
..expandAbnormality of the spleen (HP:0001743) help
..expandAbnormality of the thymus (HP:0000777) help
..expandAbnormality of the tonsils (HP:0100765) help
..expandLymphangioma (HP:0100764) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002733HP:0002733Abnormality of the lymph nodes0FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0002733HP:0002733Abnormality of the lymph nodes0FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0002733HP:0002733Abnormality of the lymph nodes0JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM15526193600173
HP:0002733HP:0002733Abnormality of the lymph nodes0JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM14806193600173
HP:0002733HP:0002716Lymphadenopathy1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0002733HP:0025042Abnormality of mesenteric lymph nodes1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0002733HP:0002849Absence of lymph node germinal center1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0002733HP:0032536Increased number of lymph nodes1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0002733HP:0002732Lymph node hypoplasia1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0002733HP:0002716Lymphadenopathy1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0002733HP:0025042Abnormality of mesenteric lymph nodes1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0002733HP:0002849Absence of lymph node germinal center1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0002733HP:0032536Increased number of lymph nodes1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0002733HP:0002732Lymph node hypoplasia1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0002733HP:0002840Lymphadenitis1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0002733HP:0033581Absent peripheral lymph nodes in presence of infection1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0002733HP:0033136Lymph node abscess1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0002733HP:0002840Lymphadenitis1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0002733HP:0033581Absent peripheral lymph nodes in presence of infection1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0002733HP:0033136Lymph node abscess1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0002733HP:0033136Lymph node abscess1JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM15526193600173
HP:0002733HP:0002840Lymphadenitis1JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM15526193600173
HP:0002733HP:0033581Absent peripheral lymph nodes in presence of infection1JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM15526193600173
HP:0002733HP:0002840Lymphadenitis1JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM14806193600173
HP:0002733HP:0033581Absent peripheral lymph nodes in presence of infection1JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM14806193600173
HP:0002733HP:0033136Lymph node abscess1JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM14806193600173
HP:0002733HP:0002732Lymph node hypoplasia1JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM15526193600173
HP:0002733HP:0002716Lymphadenopathy1JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM15526193600173
HP:0002733HP:0025042Abnormality of mesenteric lymph nodes1JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM15526193600173
HP:0002733HP:0002849Absence of lymph node germinal center1JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM15526193600173
HP:0002733HP:0032536Increased number of lymph nodes1JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM15526193600173
HP:0002733HP:0002732Lymph node hypoplasia1JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM14806193600173
HP:0002733HP:0002716Lymphadenopathy1JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM14806193600173
HP:0002733HP:0025042Abnormality of mesenteric lymph nodes1JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM14806193600173
HP:0002733HP:0002849Absence of lymph node germinal center1JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM14806193600173
HP:0002733HP:0032536Increased number of lymph nodes1JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM14806193600173
HP:0002733HP:0002730Chronic noninfectious lymphadenopathy2FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0002733HP:0008940Generalized lymphadenopathy2FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0002733HP:0033280Paratracheal lymphadenopathy2FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0002733HP:0002730Chronic noninfectious lymphadenopathy2FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0002733HP:0008940Generalized lymphadenopathy2FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0002733HP:0033280Paratracheal lymphadenopathy2FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0002733HP:0025289Cervical lymphadenopathy2FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0002733HP:0025043Enlarged mesenteric lymph node2FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0002733HP:0002729Follicular hyperplasia2FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0002733HP:0100721Mediastinal lymphadenopathy2FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0002733HP:0033176Submandibular lymph node enlargement2FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM128623151607901
HP:0002733HP:0025289Cervical lymphadenopathy2FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0002733HP:0025043Enlarged mesenteric lymph node2FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0002733HP:0002729Follicular hyperplasia2FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0002733HP:0100721Mediastinal lymphadenopathy2FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0002733HP:0033176Submandibular lymph node enlargement2FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM122823151607901
HP:0002733HP:0033176Submandibular lymph node enlargement2JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM15526193600173
HP:0002733HP:0025289Cervical lymphadenopathy2JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM15526193600173
HP:0002733HP:0025043Enlarged mesenteric lymph node2JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM15526193600173
HP:0002733HP:0002729Follicular hyperplasia2JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM15526193600173
HP:0002733HP:0100721Mediastinal lymphadenopathy2JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM15526193600173
HP:0002733HP:0033176Submandibular lymph node enlargement2JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM14806193600173
HP:0002733HP:0025289Cervical lymphadenopathy2JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM14806193600173
HP:0002733HP:0025043Enlarged mesenteric lymph node2JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM14806193600173
HP:0002733HP:0002729Follicular hyperplasia2JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM14806193600173
HP:0002733HP:0100721Mediastinal lymphadenopathy2JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM14806193600173
HP:0002733HP:0002730Chronic noninfectious lymphadenopathy2JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM15526193600173
HP:0002733HP:0008940Generalized lymphadenopathy2JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM15526193600173
HP:0002733HP:0033280Paratracheal lymphadenopathy2JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM15526193600173
HP:0002733HP:0002730Chronic noninfectious lymphadenopathy2JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM14806193600173
HP:0002733HP:0008940Generalized lymphadenopathy2JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM14806193600173
HP:0002733HP:0033280Paratracheal lymphadenopathy2JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM14806193600173
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002733HP:0002733Abnormality of the lymph nodes0MYC CL E G H4609543ORPHA0627553190080
HP:0002733HP:0002733Abnormality of the lymph nodes0MYC CL E G H4609543ORPHA0617553190080
HP:0002733HP:0033581Absent peripheral lymph nodes in presence of infection1MYC CL E G H4609543ORPHA0627553190080
HP:0002733HP:0033136Lymph node abscess1MYC CL E G H4609543ORPHA0627553190080
HP:0002733HP:0002840Lymphadenitis1MYC CL E G H4609543ORPHA0627553190080
HP:0002733HP:0033581Absent peripheral lymph nodes in presence of infection1MYC CL E G H4609543ORPHA0617553190080
HP:0002733HP:0033136Lymph node abscess1MYC CL E G H4609543ORPHA0617553190080
HP:0002733HP:0002840Lymphadenitis1MYC CL E G H4609543ORPHA0617553190080
HP:0002733HP:0025042Abnormality of mesenteric lymph nodes1MYC CL E G H4609543ORPHA0627553190080
HP:0002733HP:0002849Absence of lymph node germinal center1MYC CL E G H4609543ORPHA0627553190080
HP:0002733HP:0032536Increased number of lymph nodes1MYC CL E G H4609543ORPHA0627553190080
HP:0002733HP:0002732Lymph node hypoplasia1MYC CL E G H4609543ORPHA0627553190080
HP:0002733HP:0002716Lymphadenopathy1MYC CL E G H4609543ORPHA0627553190080
HP:0002733HP:0025042Abnormality of mesenteric lymph nodes1MYC CL E G H4609543ORPHA0617553190080
HP:0002733HP:0002849Absence of lymph node germinal center1MYC CL E G H4609543ORPHA0617553190080
HP:0002733HP:0032536Increased number of lymph nodes1MYC CL E G H4609543ORPHA0617553190080
HP:0002733HP:0002732Lymph node hypoplasia1MYC CL E G H4609543ORPHA0617553190080
HP:0002733HP:0002716Lymphadenopathy1MYC CL E G H4609543ORPHA0617553190080
HP:0002733HP:0025289Cervical lymphadenopathy2MYC CL E G H4609543ORPHA0627553190080
HP:0002733HP:0025043Enlarged mesenteric lymph node2MYC CL E G H4609543ORPHA0627553190080
HP:0002733HP:0002729Follicular hyperplasia2MYC CL E G H4609543ORPHA0627553190080
HP:0002733HP:0100721Mediastinal lymphadenopathy2MYC CL E G H4609543ORPHA0627553190080
HP:0002733HP:0033176Submandibular lymph node enlargement2MYC CL E G H4609543ORPHA0627553190080
HP:0002733HP:0025289Cervical lymphadenopathy2MYC CL E G H4609543ORPHA0617553190080
HP:0002733HP:0025043Enlarged mesenteric lymph node2MYC CL E G H4609543ORPHA0617553190080
HP:0002733HP:0002729Follicular hyperplasia2MYC CL E G H4609543ORPHA0617553190080
HP:0002733HP:0100721Mediastinal lymphadenopathy2MYC CL E G H4609543ORPHA0617553190080
HP:0002733HP:0033176Submandibular lymph node enlargement2MYC CL E G H4609543ORPHA0617553190080
HP:0002733HP:0002730Chronic noninfectious lymphadenopathy2MYC CL E G H4609543ORPHA0627553190080
HP:0002733HP:0008940Generalized lymphadenopathy2MYC CL E G H4609543ORPHA0627553190080
HP:0002733HP:0033280Paratracheal lymphadenopathy2MYC CL E G H4609543ORPHA0627553190080
HP:0002733HP:0002730Chronic noninfectious lymphadenopathy2MYC CL E G H4609543ORPHA0617553190080
HP:0002733HP:0008940Generalized lymphadenopathy2MYC CL E G H4609543ORPHA0617553190080
HP:0002733HP:0033280Paratracheal lymphadenopathy2MYC CL E G H4609543ORPHA0617553190080


Genes (161) :ABCA1 ACP5 ADA ADAMTS3 AICDA APOA1 APOE ARPC1B ATM ATRX BCL10 BCL2 BCL6 BIRC3 BRCA1 BRCA2 BTK BTNL2 C4A CASP10 CASP8 CCBE1 CCND1 CCR1 CD19 CD27 CD28 CD40 CD40LG CD70 CD81 CDKN2A CHD7 CLCN7 CR2 CTLA4 CYBA CYBB CYBC1 DAXX DCLRE1C DIS3L2 DLEC1 DNASE1L3 ELANE ERAP1 EWSR1 FAS FASLG FAT4 FERMT3 FOXE1 FOXP1 FOXP3 GATA2 GINS1 GPC3 H19 HABP2 HLA-B HLA-DRB1 ICOS IFNGR1 IGH IL10 IL12A IL12A-AS1 IL23R IL2RA IL2RG IL6 IL7R INHBA IRF8 ISG15 ITK JAK3 KLRC4 KRAS LACC1 LAT LCAT LIG4 LRBA LYST MALT1 MCM4 MEFV MIF MINPP1 MS4A1 MVK MYC MYD88 NCF1 NCF2 NCF4 NFKB1 NFKB2 NLRC4 NLRP12 NLRP3 NOD2 NRAS OTULIN PALB2 PALLD PIK3CD PNP POMP POU6F2 PRF1 PRKCD PSMB4 PSMB8 PSMB9 PSTPIP1 PTPN22 PTPRC RAB27A RAG1 RAG2 RBCK1 REST RMRP RNF168 RNF6 RNU4ATAC SDHD SH2D1A SLC29A3 SMAD4 SMPD1 SNX10 SP110 STAT4 STIM1 TCIRG1 TGFBR2 TLR4 TMEM173 TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFSF11 TNFSF12 TP53 TPP2 TRAC TRIM28 TRIP13 TSC1 TSC2 UBAC2 UNG VPS13A WT1 WWOX XIAP XRCC4

Diseases (109) :612840 600802 543 425 607944 39041 277 2136 605258 617718 52416 1333 654 300755 797 117 607271 29073 1572 615122 2584 3162 606843 308230 618261 667 616100 233690 306400 603554 602450 99977 36412 2686 304790 3226 617827 85414 607594 209950 606367 608971 319600 614893 616126 613011 617514 79292 99812 614700 167 214500 609981 342 343 260920 610377 33226 233700 233710 1451 611762 617772 90340 617099 615513 613179 618048 603553 615559 617591 2615 256040 69126 79477 615895 616651 2442 308240 168569 257200 79124 235550 612783 32960 444463 615387 538 608106 2388 31150 158029 100075 52417 545 603909 240500 379 83469 601859 319487 615978 213504 614470 397 420741 100093 602782 615934
 

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