Human Phenotype Ontology 
Grandparent Node:
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Abnormality of blood and blood-forming tissues (HP:0001871)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Hematological neoplasm (HP:0004377)help
..Starting node
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Lymphoma (HP:0002665)help
Term ID: 2665
Name: Lymphoma
Synonym: Cancer of lymphatic system
Definition: A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Comments:
Reference: HP:0002665
Genes and Diseases:
 
       Child Nodes:
........expandPulmonary lymphoma (HP:0011953) help
........expandHodgkin lymphoma (HP:0012189) help
........expandNon-Hodgkin lymphoma (HP:0012539) help
................... HP:0012190 T-cell lymphoma
................... HP:0012191 B-cell lymphoma
................... HP:0030069 Primary central nervous system lymphoma
................... HP:0030080 Burkitt lymphoma
........expandGastric lymphoma (HP:0045038) help

 Sister Nodes: 
..expandLeukemia (HP:0001909) help
..expandLymphoproliferative disorder (HP:0005523) help
..expandMalignant eosinophil proliferation (HP:0006782) help
..expandMultiple myeloma (HP:0006775) help
..expandMyelodysplasia (HP:0002863) help
..expandPlasmacytoma (HP:0011857) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002665HP:0002665Lymphoma0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0002665HP:0002665Lymphoma0ADA CL E G H100186ORPHA:39041Omenn syndromeHP:0040283 - Occasional75
HP:0002665HP:0002665Lymphoma0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0002665HP:0002665Lymphoma0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040284 - Very rare3179
HP:0002665HP:0002665Lymphoma0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional145
HP:0002665HP:0002665Lymphoma0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0002665HP:0002665Lymphoma0ATM CL E G H472795ORPHA:52416Mantle cell lymphoma3267
HP:0002665HP:0002665Lymphoma0BCL10 CL E G H8915989OMIM:137245Gastric lymphoma, primary18
HP:0002665HP:0002665Lymphoma0BCL10 CL E G H8915989OMIM:605027Lymphoma, non-hodgkin, familial.18
HP:0002665HP:0002665Lymphoma0BCL10 CL E G H8915989ORPHA:52417MALT lymphoma18
HP:0002665HP:0002665Lymphoma0BCL2 CL E G H596990ORPHA:545Follicular lymphomaHP:0040281 - Very frequent1
HP:0002665HP:0002665Lymphoma0BCL6 CL E G H6041001ORPHA:545Follicular lymphomaHP:0040281 - Very frequent1
HP:0002665HP:0002665Lymphoma0BIRC3 CL E G H330591ORPHA:52417MALT lymphoma
HP:0002665HP:0002665Lymphoma0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0002665HP:0002665Lymphoma0BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0002665HP:0002665Lymphoma0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndrome87
HP:0002665HP:0002665Lymphoma0CASP10 CL E G H8431500OMIM:605027Lymphoma, non-hodgkin, familial.87
HP:0002665HP:0002665Lymphoma0CCND1 CL E G H5951582ORPHA:52416Mantle cell lymphoma1
HP:0002665HP:0002665Lymphoma0CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional38
HP:0002665HP:0002665Lymphoma0CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 2.38
HP:0002665HP:0002665Lymphoma0CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0002665HP:0002665Lymphoma0CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoidesHP:0040281 - Very frequent
HP:0002665HP:0002665Lymphoma0CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040281 - Very frequent
HP:0002665HP:0002665Lymphoma0CD70 CL E G H97011937OMIM:618261LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0002665HP:0002665Lymphoma0CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional1
HP:0002665HP:0002665Lymphoma0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional289
HP:0002665HP:0002665Lymphoma0CHD7 CL E G H5563620626ORPHA:39041Omenn syndromeHP:0040283 - Occasional515
HP:0002665HP:0002665Lymphoma0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional833
HP:0002665HP:0002665Lymphoma0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0002665HP:0002665Lymphoma0CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional10
HP:0002665HP:0002665Lymphoma0CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 2.10
HP:0002665HP:0002665Lymphoma0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional160
HP:0002665HP:0002665Lymphoma0CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoidesHP:0040281 - Very frequent10
HP:0002665HP:0002665Lymphoma0CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040281 - Very frequent10
HP:0002665HP:0002665Lymphoma0DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndromeHP:0040283 - Occasional94
HP:0002665HP:0002665Lymphoma0DDX41 CL E G H5142818674OMIM:616871Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to.23
HP:0002665HP:0002665Lymphoma0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002665HP:0002665Lymphoma0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional65
HP:0002665HP:0002665Lymphoma0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked65
HP:0002665HP:0002665Lymphoma0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040283 - Occasional3
HP:0002665HP:0002665Lymphoma0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndrome59
HP:0002665HP:0002665Lymphoma0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndrome37
HP:0002665HP:0002665Lymphoma0FCHO1 CL E G H2314929002OMIM:619164IMMUNODEFICIENCY 76; IMD76
HP:0002665HP:0002665Lymphoma0FOXP1 CL E G H270863823ORPHA:52417MALT lymphoma184
HP:0002665HP:0002665Lymphoma0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0002665HP:0002665Lymphoma0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0002665HP:0002665Lymphoma0HLA-DRB1 CL E G H31234948ORPHA:545Follicular lymphomaHP:0040281 - Very frequent2
HP:0002665HP:0002665Lymphoma0ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional32
HP:0002665HP:0002665Lymphoma0ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 2.32
HP:0002665HP:0002665Lymphoma0IGH CL E G H34925477ORPHA:545Follicular lymphomaHP:0040281 - Very frequent7
HP:0002665HP:0002665Lymphoma0IGH CL E G H34925477ORPHA:52417MALT lymphoma7
HP:0002665HP:0002665Lymphoma0IGH CL E G H34925477ORPHA:52416Mantle cell lymphoma7
HP:0002665HP:0002665Lymphoma0IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0002665HP:0002665Lymphoma0IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0002665HP:0002665Lymphoma0IKZF3 CL E G H2280613178OMIM:619437IMMUNODEFICIENCY 84; IMD84
HP:0002665HP:0002665Lymphoma0IL2RG CL E G H35616010ORPHA:39041Omenn syndromeHP:0040283 - Occasional48
HP:0002665HP:0002665Lymphoma0IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiencyHP:0040284 - Very rare48
HP:0002665HP:0002665Lymphoma0IL7R CL E G H35756024ORPHA:39041Omenn syndromeHP:0040283 - Occasional94
HP:0002665HP:0002665Lymphoma0IRF2BP2 CL E G H35994821729ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional4
HP:0002665HP:0002665Lymphoma0ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0002665HP:0002665Lymphoma0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0002665HP:0002665Lymphoma0KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional327
HP:0002665HP:0002665Lymphoma0KLHDC8B CL E G H20094228557OMIM:236000Lymphoma, hodgkin1
HP:0002665HP:0002665Lymphoma0KRAS CL E G H38456407OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.196
HP:0002665HP:0002665Lymphoma0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040283 - Occasional88
HP:0002665HP:0002665Lymphoma0LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040282 - Frequent88
HP:0002665HP:0002665Lymphoma0LIG4 CL E G H39816601ORPHA:39041Omenn syndromeHP:0040283 - Occasional88
HP:0002665HP:0002665Lymphoma0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0002665HP:0002665Lymphoma0MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0002665HP:0002665Lymphoma0MALT1 CL E G H108926819ORPHA:52417MALT lymphoma6
HP:0002665HP:0002665Lymphoma0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional1
HP:0002665HP:0002665Lymphoma0MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0002665HP:0002665Lymphoma0MS4A1 CL E G H9317315ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional1
HP:0002665HP:0002665Lymphoma0MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0002665HP:0002665Lymphoma0MYC CL E G H46097553OMIM:113970Burkitt lymphoma11
HP:0002665HP:0002665Lymphoma0MYD88 CL E G H46157562OMIM:153600Macroglobulinemia, Waldenstrom, somaticHP:0040283 - Occasional9
HP:0002665HP:0002665Lymphoma0MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040281 - Very frequent9
HP:0002665HP:0002665Lymphoma0NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome.706
HP:0002665HP:0002665Lymphoma0NBN CL E G H46837652ORPHA:647Nijmegen breakage syndromeHP:0040283 - Occasional706
HP:0002665HP:0002665Lymphoma0NFKB1 CL E G H47907794ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional7
HP:0002665HP:0002665Lymphoma0NFKB2 CL E G H47917795ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional11
HP:0002665HP:0002665Lymphoma0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional27
HP:0002665HP:0002665Lymphoma0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional17
HP:0002665HP:0002665Lymphoma0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional12
HP:0002665HP:0002665Lymphoma0NRAS CL E G H48937989OMIM:614470RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic.102
HP:0002665HP:0002665Lymphoma0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040283 - Occasional84
HP:0002665HP:0002665Lymphoma0NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposis2
HP:0002665HP:0002665Lymphoma0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional26
HP:0002665HP:0002665Lymphoma0PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0002665HP:0002665Lymphoma0PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040283 - Occasional15
HP:0002665HP:0002665Lymphoma0PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 3643
HP:0002665HP:0002665Lymphoma0PMS2 CL E G H53959122OMIM:619101MISMATCH REPAIR CANCER SYNDROME 4; MMRCS41121
HP:0002665HP:0002665Lymphoma0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency.52
HP:0002665HP:0002665Lymphoma0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1129
HP:0002665HP:0002665Lymphoma0PRF1 CL E G H55519360OMIM:605027Lymphoma, non-hodgkin, familial.58
HP:0002665HP:0002665Lymphoma0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndrome10
HP:0002665HP:0002665Lymphoma0PRKCD CL E G H55809399ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional10
HP:0002665HP:0002665Lymphoma0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040283 - Occasional948
HP:0002665HP:0002665Lymphoma0PTPRC CL E G H57889666OMIM:61992425
HP:0002665HP:0002665Lymphoma0RAD54B CL E G H2578817228OMIM:605027Lymphoma, non-hodgkin, familial.2
HP:0002665HP:0002665Lymphoma0RAD54L CL E G H84389826OMIM:605027Lymphoma, non-hodgkin, familial.5
HP:0002665HP:0002665Lymphoma0RAG1 CL E G H58969831ORPHA:39041Omenn syndromeHP:0040283 - Occasional127
HP:0002665HP:0002665Lymphoma0RAG2 CL E G H58979832ORPHA:39041Omenn syndromeHP:0040283 - Occasional50
HP:0002665HP:0002665Lymphoma0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndrome
HP:0002665HP:0002665Lymphoma0RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0002665HP:0002665Lymphoma0RB1 CL E G H59259884OMIM:180200RETINOBLASTOMA.365
HP:0002665HP:0002665Lymphoma0RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndromeHP:0040283 - Occasional445
HP:0002665HP:0002665Lymphoma0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:0002665HP:0002665Lymphoma0RHOH CL E G H399686OMIM:618307Epidermodysplasia verruciformis, susceptibility to, 4
HP:0002665HP:0002665Lymphoma0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia37
HP:0002665HP:0002665Lymphoma0RMRP CL E G H602310031ORPHA:39041Omenn syndromeHP:0040283 - Occasional37
HP:0002665HP:0002665Lymphoma0RNF43 CL E G H5489418505ORPHA:157798Serrated polyposis syndrome5
HP:0002665HP:0002665Lymphoma0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional77
HP:0002665HP:0002665Lymphoma0RUNX1 CL E G H86110471OMIM:601399Platelet disorder, familial, with associated myeloid malignancy.181
HP:0002665HP:0002665Lymphoma0SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0002665HP:0002665Lymphoma0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasia74
HP:0002665HP:0002665Lymphoma0SOCS1 CL E G H865119383OMIM:619375AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD6
HP:0002665HP:0002665Lymphoma0SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional1
HP:0002665HP:0002665Lymphoma0STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0002665HP:0002665Lymphoma0STAT3 CL E G H677411364ORPHA:2314Autosomal dominant hyper-IgE syndromeHP:0040283 - Occasional110
HP:0002665HP:0002665Lymphoma0SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0002665HP:0002665Lymphoma0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndrome241
HP:0002665HP:0002665Lymphoma0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional48
HP:0002665HP:0002665Lymphoma0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional238
HP:0002665HP:0002665Lymphoma0TET2 CL E G H5479025941OMIM:619126IMMUNODEFICIENCY 75; IMD753
HP:0002665HP:0002665Lymphoma0TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional3
HP:0002665HP:0002665Lymphoma0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional60
HP:0002665HP:0002665Lymphoma0TNFRSF13B CL E G H2349518153ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional32
HP:0002665HP:0002665Lymphoma0TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 2.32
HP:0002665HP:0002665Lymphoma0TNFRSF13C CL E G H11565017755ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional12
HP:0002665HP:0002665Lymphoma0TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 2.12
HP:0002665HP:0002665Lymphoma0TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoidesHP:0040281 - Very frequent
HP:0002665HP:0002665Lymphoma0TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndromeHP:0040281 - Very frequent
HP:0002665HP:0002665Lymphoma0TNFSF12 CL E G H874211927ORPHA:1572Common variable immunodeficiencyHP:0040283 - Occasional1
HP:0002665HP:0002665Lymphoma0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040283 - Occasional911
HP:0002665HP:0002665Lymphoma0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040283 - Occasional140
HP:0002665HP:0002665Lymphoma0TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0002665HP:0002665Lymphoma0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional1
HP:0002665HP:0002665Lymphoma0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional8
HP:0002665HP:0002665Lymphoma0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional65
HP:0002665HP:0002665Lymphoma0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional6
HP:0002665HP:0002665Lymphoma0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional40
HP:0002665HP:0002665Lymphoma0XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0002665HP:0002665Lymphoma0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040282 - Frequent9
HP:0002665HP:0002665Lymphoma0ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiencyHP:0040284 - Very rare46
HP:0002665HP:0011953Pulmonary lymphoma1 CL E G H
HP:0002665HP:0012189Hodgkin lymphoma1AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare7
HP:0002665HP:0012539Non-Hodgkin lymphoma1ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0002665HP:0012539Non-Hodgkin lymphoma1ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0002665HP:0012189Hodgkin lymphoma1ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0002665HP:0012539Non-Hodgkin lymphoma1ATM CL E G H472795ORPHA:52416Mantle cell lymphoma3267
HP:0002665HP:0045038Gastric lymphoma1BCL10 CL E G H8915989OMIM:137245Gastric lymphoma, primary.18
HP:0002665HP:0012539Non-Hodgkin lymphoma1BCL10 CL E G H8915989ORPHA:52417MALT lymphoma18
HP:0002665HP:0012539Non-Hodgkin lymphoma1BIRC3 CL E G H330591ORPHA:52417MALT lymphoma
HP:0002665HP:0012539Non-Hodgkin lymphoma1CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional87
HP:0002665HP:0012189Hodgkin lymphoma1CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional87
HP:0002665HP:0012539Non-Hodgkin lymphoma1CCND1 CL E G H5951582ORPHA:52416Mantle cell lymphoma1
HP:0002665HP:0012189Hodgkin lymphoma1CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0002665HP:0012539Non-Hodgkin lymphoma1CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoides
HP:0002665HP:0012539Non-Hodgkin lymphoma1CD28 CL E G H9401653ORPHA:3162Sézary syndrome
HP:0002665HP:0012189Hodgkin lymphoma1CD70 CL E G H97011937OMIM:618261LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0002665HP:0012539Non-Hodgkin lymphoma1CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare289
HP:0002665HP:0012189Hodgkin lymphoma1CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare289
HP:0002665HP:0012539Non-Hodgkin lymphoma1CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare833
HP:0002665HP:0012189Hodgkin lymphoma1CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare833
HP:0002665HP:0012189Hodgkin lymphoma1COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040284 - Very rare2
HP:0002665HP:0012539Non-Hodgkin lymphoma1CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoides10
HP:0002665HP:0012539Non-Hodgkin lymphoma1CTLA4 CL E G H14932505ORPHA:3162Sézary syndrome10
HP:0002665HP:0012189Hodgkin lymphoma1DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002665HP:0012189Hodgkin lymphoma1DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0002665HP:0012189Hodgkin lymphoma1FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional59
HP:0002665HP:0012539Non-Hodgkin lymphoma1FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional59
HP:0002665HP:0012189Hodgkin lymphoma1FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional37
HP:0002665HP:0012539Non-Hodgkin lymphoma1FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional37
HP:0002665HP:0012539Non-Hodgkin lymphoma1FCHO1 CL E G H2314929002OMIM:619164IMMUNODEFICIENCY 76; IMD76
HP:0002665HP:0012539Non-Hodgkin lymphoma1FOXP1 CL E G H270863823ORPHA:52417MALT lymphoma184
HP:0002665HP:0012539Non-Hodgkin lymphoma1IGH CL E G H34925477ORPHA:52417MALT lymphoma7
HP:0002665HP:0012539Non-Hodgkin lymphoma1IGH CL E G H34925477ORPHA:52416Mantle cell lymphoma7
HP:0002665HP:0012539Non-Hodgkin lymphoma1IKZF3 CL E G H2280613178OMIM:619437IMMUNODEFICIENCY 84; IMD84
HP:0002665HP:0012189Hodgkin lymphoma1ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0002665HP:0012539Non-Hodgkin lymphoma1ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0002665HP:0012189Hodgkin lymphoma1KLHDC8B CL E G H20094228557OMIM:236000Lymphoma, hodgkin.1
HP:0002665HP:0012539Non-Hodgkin lymphoma1MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0002665HP:0012189Hodgkin lymphoma1MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0002665HP:0012539Non-Hodgkin lymphoma1MALT1 CL E G H108926819ORPHA:52417MALT lymphoma6
HP:0002665HP:0012539Non-Hodgkin lymphoma1MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare1
HP:0002665HP:0012189Hodgkin lymphoma1MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare1
HP:0002665HP:0012539Non-Hodgkin lymphoma1MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0002665HP:0012539Non-Hodgkin lymphoma1MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0002665HP:0012539Non-Hodgkin lymphoma1MYC CL E G H46097553OMIM:113970Burkitt lymphoma11
HP:0002665HP:0012539Non-Hodgkin lymphoma1NBN CL E G H46837652ORPHA:647Nijmegen breakage syndrome706
HP:0002665HP:0012539Non-Hodgkin lymphoma1NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposisHP:0040283 - Occasional2
HP:0002665HP:0012189Hodgkin lymphoma1PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0002665HP:0012539Non-Hodgkin lymphoma1PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 3643
HP:0002665HP:0012539Non-Hodgkin lymphoma1PMS2 CL E G H53959122OMIM:619101MISMATCH REPAIR CANCER SYNDROME 4; MMRCS41121
HP:0002665HP:0012189Hodgkin lymphoma1POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiencyHP:0040284 - Very rare1129
HP:0002665HP:0012539Non-Hodgkin lymphoma1POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1129
HP:0002665HP:0012189Hodgkin lymphoma1PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional10
HP:0002665HP:0012539Non-Hodgkin lymphoma1PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional10
HP:0002665HP:0012539Non-Hodgkin lymphoma1PTPRC CL E G H57889666OMIM:61992425
HP:0002665HP:0012539Non-Hodgkin lymphoma1RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional
HP:0002665HP:0012189Hodgkin lymphoma1RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional
HP:0002665HP:0012539Non-Hodgkin lymphoma1RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0002665HP:0012539Non-Hodgkin lymphoma1RHOH CL E G H399686OMIM:618307Epidermodysplasia verruciformis, susceptibility to, 4
HP:0002665HP:0012189Hodgkin lymphoma1RNF43 CL E G H5489418505ORPHA:157798Serrated polyposis syndromeHP:0040284 - Very rare5
HP:0002665HP:0012539Non-Hodgkin lymphoma1SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0002665HP:0012539Non-Hodgkin lymphoma1SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040284 - Very rare74
HP:0002665HP:0012189Hodgkin lymphoma1SOCS1 CL E G H865119383OMIM:619375AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD6
HP:0002665HP:0012189Hodgkin lymphoma1STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0002665HP:0012539Non-Hodgkin lymphoma1SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0002665HP:0012189Hodgkin lymphoma1TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040284 - Very rare241
HP:0002665HP:0012539Non-Hodgkin lymphoma1TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoides
HP:0002665HP:0012539Non-Hodgkin lymphoma1TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndrome
HP:0002665HP:0012189Hodgkin lymphoma1TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare911
HP:0002665HP:0012539Non-Hodgkin lymphoma1TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare911
HP:0002665HP:0012539Non-Hodgkin lymphoma1TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0002665HP:0012539Non-Hodgkin lymphoma1XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0002665HP:0030069Primary central nervous system lymphoma2 CL E G H
HP:0002665HP:0012191B-cell lymphoma2ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency.75
HP:0002665HP:0012191B-cell lymphoma2ATM CL E G H472795ORPHA:52416Mantle cell lymphomaHP:0040281 - Very frequent3267
HP:0002665HP:0012191B-cell lymphoma2BCL10 CL E G H8915989ORPHA:52417MALT lymphomaHP:0040281 - Very frequent18
HP:0002665HP:0012191B-cell lymphoma2BIRC3 CL E G H330591ORPHA:52417MALT lymphomaHP:0040281 - Very frequent
HP:0002665HP:0012191B-cell lymphoma2CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional87
HP:0002665HP:0012190T-cell lymphoma2CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional87
HP:0002665HP:0030080Burkitt lymphoma2CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional87
HP:0002665HP:0012191B-cell lymphoma2CCND1 CL E G H5951582ORPHA:52416Mantle cell lymphomaHP:0040281 - Very frequent1
HP:0002665HP:0012190T-cell lymphoma2CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoides
HP:0002665HP:0012190T-cell lymphoma2CD28 CL E G H9401653ORPHA:3162Sézary syndrome
HP:0002665HP:0012190T-cell lymphoma2CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoides10
HP:0002665HP:0012190T-cell lymphoma2CTLA4 CL E G H14932505ORPHA:3162Sézary syndrome10
HP:0002665HP:0012191B-cell lymphoma2FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional59
HP:0002665HP:0030080Burkitt lymphoma2FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional59
HP:0002665HP:0012190T-cell lymphoma2FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional59
HP:0002665HP:0012191B-cell lymphoma2FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional37
HP:0002665HP:0012190T-cell lymphoma2FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional37
HP:0002665HP:0030080Burkitt lymphoma2FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional37
HP:0002665HP:0012191B-cell lymphoma2FCHO1 CL E G H2314929002OMIM:619164IMMUNODEFICIENCY 76; IMD76
HP:0002665HP:0012191B-cell lymphoma2FOXP1 CL E G H270863823ORPHA:52417MALT lymphomaHP:0040281 - Very frequent184
HP:0002665HP:0012191B-cell lymphoma2IGH CL E G H34925477ORPHA:52417MALT lymphomaHP:0040281 - Very frequent7
HP:0002665HP:0012191B-cell lymphoma2IGH CL E G H34925477ORPHA:52416Mantle cell lymphomaHP:0040281 - Very frequent7
HP:0002665HP:0012191B-cell lymphoma2IKZF3 CL E G H2280613178OMIM:619437IMMUNODEFICIENCY 84; IMD84
HP:0002665HP:0012191B-cell lymphoma2ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0002665HP:0012191B-cell lymphoma2MAGT1 CL E G H8406128880OMIM:300853IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN17
HP:0002665HP:0012191B-cell lymphoma2MALT1 CL E G H108926819ORPHA:52417MALT lymphomaHP:0040281 - Very frequent6
HP:0002665HP:0012190T-cell lymphoma2MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0002665HP:0012190T-cell lymphoma2MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0002665HP:0030080Burkitt lymphoma2MYC CL E G H46097553OMIM:113970Burkitt lymphoma.11
HP:0002665HP:0012190T-cell lymphoma2NBN CL E G H46837652ORPHA:647Nijmegen breakage syndromeHP:0040283 - Occasional706
HP:0002665HP:0012191B-cell lymphoma2NBN CL E G H46837652ORPHA:647Nijmegen breakage syndromeHP:0040283 - Occasional706
HP:0002665HP:0012191B-cell lymphoma2PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 36HP:0040284 - Very rare43
HP:0002665HP:0012190T-cell lymphoma2POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiencyHP:0040284 - Very rare1129
HP:0002665HP:0012190T-cell lymphoma2PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional10
HP:0002665HP:0030080Burkitt lymphoma2PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional10
HP:0002665HP:0012191B-cell lymphoma2PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional10
HP:0002665HP:0012191B-cell lymphoma2PTPRC CL E G H57889666OMIM:61992425
HP:0002665HP:0012191B-cell lymphoma2RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional
HP:0002665HP:0012190T-cell lymphoma2RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional
HP:0002665HP:0030080Burkitt lymphoma2RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional
HP:0002665HP:0012191B-cell lymphoma2RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0002665HP:0030080Burkitt lymphoma2RHOH CL E G H399686OMIM:618307Epidermodysplasia verruciformis, susceptibility to, 4.
HP:0002665HP:0030080Burkitt lymphoma2SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0002665HP:0012191B-cell lymphoma2SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0002665HP:0012190T-cell lymphoma2TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoides
HP:0002665HP:0012190T-cell lymphoma2TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndrome
HP:0002665HP:0012190T-cell lymphoma2TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0002665HP:0030080Burkitt lymphoma2XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0002665HP:0034403Subcutaneous panniculitis-like T-cell lymphoma3 CL E G H
HP:0002665HP:0033125Follicular lymphoma3 CL E G H
HP:0002665HP:0012193Anaplastic large-cell lymphoma3 CL E G H
HP:0002665HP:0005517T-cell lymphoma/leukemia3 CL E G H
HP:0002665HP:0012192Cutaneous T-cell lymphoma3CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoidesHP:0040282 - Frequent
HP:0002665HP:0012192Cutaneous T-cell lymphoma3CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040281 - Very frequent
HP:0002665HP:0012192Cutaneous T-cell lymphoma3CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoidesHP:0040282 - Frequent10
HP:0002665HP:0012192Cutaneous T-cell lymphoma3CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040281 - Very frequent10
HP:0002665HP:0012192Cutaneous T-cell lymphoma3TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoidesHP:0040282 - Frequent
HP:0002665HP:0012192Cutaneous T-cell lymphoma3TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndromeHP:0040281 - Very frequent


Genes (116) :AAGAB ADA APC ASXL1 ATM BCL10 BCL2 BCL6 BIRC3 BLM CASP10 CCND1 CD19 CD27 CD28 CD70 CD81 CDKN2A CHD7 CHEK2 COL14A1 CR2 CTC1 CTLA4 DCLRE1C DDX41 DEF6 DKC1 DNASE1L3 FAS FASLG FCHO1 FOXP1 HLA-DQA1 HLA-DQB1 HLA-DRB1 ICOS IGH IGHG2 IGKC IKZF3 IL2RG IL7R IRF2BP2 ITK KIF11 KIT KLHDC8B KRAS LIG4 LRBA MAGT1 MALT1 MDM2 MLH1 MS4A1 MSH6 MYC MYD88 NBN NFKB1 NFKB2 NHP2 NOP10 NPM1 NRAS NSUN2 NTHL1 PARN PGM3 PIK3R1 PMS2 PNP POLE PRF1 PRKCD PTEN PTPRC RAD54B RAD54L RAG1 RAG2 RASGRP1 RB1 RECQL4 RHOH RMRP RNF43 RTEL1 RUNX1 SH2D1A SMARCAL1 SOCS1 SRSF2 STAT3 SYK TCF4 TERC TERT TET2 TINF2 TNFRSF13B TNFRSF13C TNFRSF1B TNFSF12 TP53 TP63 TTC7A TYMS USB1 WAS WIPF1 WRAP53 XIAP XRCC4 ZAP70

Diseases (75) :ORPHA:79501 ORPHA:39041 OMIM:102700 ORPHA:99818 ORPHA:98849 OMIM:208900 ORPHA:52416 OMIM:137245 OMIM:605027 ORPHA:52417 ORPHA:545 ORPHA:125 OMIM:210900 ORPHA:3261 ORPHA:1572 OMIM:240500 OMIM:615122 ORPHA:2584 ORPHA:3162 OMIM:618261 ORPHA:524 ORPHA:1775 OMIM:616871 OMIM:619573 OMIM:305000 ORPHA:36412 OMIM:619164 OMIM:212750 ORPHA:183675 OMIM:619437 ORPHA:276 OMIM:613011 ORPHA:2526 OMIM:236000 OMIM:614470 ORPHA:235 ORPHA:99812 OMIM:614700 OMIM:300853 OMIM:276300 OMIM:619097 OMIM:113970 OMIM:153600 ORPHA:33226 OMIM:251260 ORPHA:647 ORPHA:454840 OMIM:615816 ORPHA:443811 OMIM:616005 OMIM:619101 OMIM:613179 OMIM:618336 ORPHA:109 OMIM:619924 OMIM:618534 OMIM:180200 ORPHA:1225 ORPHA:221016 OMIM:618307 OMIM:250250 ORPHA:157798 OMIM:601399 OMIM:308240 ORPHA:1830 OMIM:619375 OMIM:615952 ORPHA:2314 OMIM:619381 ORPHA:2896 OMIM:619126 ORPHA:1896 OMIM:243150 ORPHA:906 ORPHA:911
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.