Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the lymphatic system (HP:0100763)

Parent Node:
Abnormality of the lymph nodes (HP:0002733)

..Starting node
..Lymphadenopathy (HP:0002716)

Term ID:

2716

Name:

Lymphadenopathy

Synonym:

Lymph node hyperplasia; Swollen lymph nodes

Definition:

Enlargment (swelling) of a lymph node.

Comments:

Reference:

HP:0002716

Genes and Diseases:

Child Nodes:

........

Follicular hyperplasia (HP:0002729)

........

Chronic noninfectious lymphadenopathy (HP:0002730)

........

Generalized lymphadenopathy (HP:0008940)

........

Cervical lymphadenopathy (HP:0025289)

........

Mediastinal lymphadenopathy (HP:0100721)

Sister Nodes:

Abnormality of mesenteric lymph nodes (HP:0025042)

Absence of lymph node germinal center (HP:0002849)

Lymph node hypoplasia (HP:0002732)

Lymphadenitis (HP:0002840)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002716	HP:0002716	Lymphadenopathy	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease		191
HP:0002716	HP:0002716	Lymphadenopathy	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0002716	HP:0002716	Lymphadenopathy	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	75
HP:0002716	HP:0002716	Lymphadenopathy	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0002716	HP:0002716	Lymphadenopathy	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040282 - Frequent	1
HP:0002716	HP:0002716	Lymphadenopathy	0	AICDA CL E G H	57379	13203	OMIM:605258	Immunodeficiency with hyper-igm, type 2	.	58
HP:0002716	HP:0002716	Lymphadenopathy	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0002716	HP:0002716	Lymphadenopathy	0	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis		39
HP:0002716	HP:0002716	Lymphadenopathy	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	.
HP:0002716	HP:0002716	Lymphadenopathy	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare	78
HP:0002716	HP:0002716	Lymphadenopathy	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0002716	HP:0002716	Lymphadenopathy	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0002716	HP:0002716	Lymphadenopathy	0	ATM CL E G H	472	795	ORPHA:52416	Mantle cell lymphoma	HP:0040281 - Very frequent	3267
HP:0002716	HP:0002716	Lymphadenopathy	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach		169
HP:0002716	HP:0002716	Lymphadenopathy	0	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma	HP:0040283 - Occasional	184
HP:0002716	HP:0002716	Lymphadenopathy	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	18
HP:0002716	HP:0002716	Lymphadenopathy	0	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent	1
HP:0002716	HP:0002716	Lymphadenopathy	0	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent	1
HP:0002716	HP:0002716	Lymphadenopathy	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	101
HP:0002716	HP:0002716	Lymphadenopathy	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional
HP:0002716	HP:0002716	Lymphadenopathy	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	5769
HP:0002716	HP:0002716	Lymphadenopathy	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	7642
HP:0002716	HP:0002716	Lymphadenopathy	0	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	7642
HP:0002716	HP:0002716	Lymphadenopathy	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0002716	HP:0002716	Lymphadenopathy	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0002716	HP:0002716	Lymphadenopathy	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002716	HP:0002716	Lymphadenopathy	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0002716	HP:0002716	Lymphadenopathy	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0002716	HP:0002716	Lymphadenopathy	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040281 - Very frequent	87
HP:0002716	HP:0002716	Lymphadenopathy	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0002716	HP:0002716	Lymphadenopathy	0	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0002716	HP:0002716	Lymphadenopathy	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0002716	HP:0002716	Lymphadenopathy	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040282 - Frequent	147
HP:0002716	HP:0002716	Lymphadenopathy	0	CCND1 CL E G H	595	1582	ORPHA:52416	Mantle cell lymphoma	HP:0040281 - Very frequent	1
HP:0002716	HP:0002716	Lymphadenopathy	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040284 - Very rare	1
HP:0002716	HP:0002716	Lymphadenopathy	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002716	HP:0002716	Lymphadenopathy	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	38
HP:0002716	HP:0002716	Lymphadenopathy	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2	.	38
HP:0002716	HP:0002716	Lymphadenopathy	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	8
HP:0002716	HP:0002716	Lymphadenopathy	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0002716	HP:0002716	Lymphadenopathy	0	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040282 - Frequent
HP:0002716	HP:0002716	Lymphadenopathy	0	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome	HP:0040281 - Very frequent
HP:0002716	HP:0002716	Lymphadenopathy	0	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0002716	HP:0002716	Lymphadenopathy	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	1
HP:0002716	HP:0002716	Lymphadenopathy	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	289
HP:0002716	HP:0002716	Lymphadenopathy	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	515
HP:0002716	HP:0002716	Lymphadenopathy	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	102
HP:0002716	HP:0002716	Lymphadenopathy	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	10
HP:0002716	HP:0002716	Lymphadenopathy	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2	.	10
HP:0002716	HP:0002716	Lymphadenopathy	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0002716	HP:0002716	Lymphadenopathy	0	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040282 - Frequent	10
HP:0002716	HP:0002716	Lymphadenopathy	0	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome	HP:0040281 - Very frequent	10
HP:0002716	HP:0002716	Lymphadenopathy	0	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0002716	HP:0002716	Lymphadenopathy	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease		27
HP:0002716	HP:0002716	Lymphadenopathy	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.	27
HP:0002716	HP:0002716	Lymphadenopathy	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease		111
HP:0002716	HP:0002716	Lymphadenopathy	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111
HP:0002716	HP:0002716	Lymphadenopathy	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0002716	HP:0002716	Lymphadenopathy	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002716	HP:0002716	Lymphadenopathy	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0002716	HP:0002716	Lymphadenopathy	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0002716	HP:0002716	Lymphadenopathy	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	94
HP:0002716	HP:0002716	Lymphadenopathy	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0002716	HP:0002716	Lymphadenopathy	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002716	HP:0002716	Lymphadenopathy	0	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	164
HP:0002716	HP:0002716	Lymphadenopathy	0	DLEC1 CL E G H	9940	2899	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040283 - Occasional
HP:0002716	HP:0002716	Lymphadenopathy	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional	3
HP:0002716	HP:0002716	Lymphadenopathy	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040281 - Very frequent	40
HP:0002716	HP:0002716	Lymphadenopathy	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0002716	HP:0002716	Lymphadenopathy	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040282 - Frequent	79
HP:0002716	HP:0002716	Lymphadenopathy	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002716	HP:0002716	Lymphadenopathy	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040281 - Very frequent
HP:0002716	HP:0002716	Lymphadenopathy	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome		59
HP:0002716	HP:0002716	Lymphadenopathy	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040281 - Very frequent	59
HP:0002716	HP:0002716	Lymphadenopathy	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0002716	HP:0002716	Lymphadenopathy	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040281 - Very frequent	37
HP:0002716	HP:0002716	Lymphadenopathy	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome		37
HP:0002716	HP:0002716	Lymphadenopathy	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040282 - Frequent	114
HP:0002716	HP:0002716	Lymphadenopathy	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002716	HP:0002716	Lymphadenopathy	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0002716	HP:0002716	Lymphadenopathy	0	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		9
HP:0002716	HP:0002716	Lymphadenopathy	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	184
HP:0002716	HP:0002716	Lymphadenopathy	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040284 - Very rare	32
HP:0002716	HP:0002716	Lymphadenopathy	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0002716	HP:0002716	Lymphadenopathy	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040283 - Occasional	137
HP:0002716	HP:0002716	Lymphadenopathy	0	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55	.
HP:0002716	HP:0002716	Lymphadenopathy	0	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	73
HP:0002716	HP:0002716	Lymphadenopathy	0	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	4
HP:0002716	HP:0002716	Lymphadenopathy	0	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		58
HP:0002716	HP:0002716	Lymphadenopathy	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0002716	HP:0002716	Lymphadenopathy	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0002716	HP:0002716	Lymphadenopathy	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease		1
HP:0002716	HP:0002716	Lymphadenopathy	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent	2
HP:0002716	HP:0002716	Lymphadenopathy	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0002716	HP:0002716	Lymphadenopathy	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0002716	HP:0002716	Lymphadenopathy	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0002716	HP:0002716	Lymphadenopathy	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040282 - Frequent	2
HP:0002716	HP:0002716	Lymphadenopathy	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0002716	HP:0002716	Lymphadenopathy	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	32
HP:0002716	HP:0002716	Lymphadenopathy	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.	32
HP:0002716	HP:0002716	Lymphadenopathy	0	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0002716	HP:0002716	Lymphadenopathy	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0002716	HP:0002716	Lymphadenopathy	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0002716	HP:0002716	Lymphadenopathy	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0002716	HP:0002716	Lymphadenopathy	0	IFNGR1 CL E G H	3459	5439	OMIM:615978	Immunodeficiency 27B		60
HP:0002716	HP:0002716	Lymphadenopathy	0	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent	7
HP:0002716	HP:0002716	Lymphadenopathy	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	7
HP:0002716	HP:0002716	Lymphadenopathy	0	IGH CL E G H	3492	5477	ORPHA:52416	Mantle cell lymphoma	HP:0040281 - Very frequent	7
HP:0002716	HP:0002716	Lymphadenopathy	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0002716	HP:0002716	Lymphadenopathy	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002716	HP:0002716	Lymphadenopathy	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002716	HP:0002716	Lymphadenopathy	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0002716	HP:0002716	Lymphadenopathy	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0002716	HP:0002716	Lymphadenopathy	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	65
HP:0002716	HP:0002716	Lymphadenopathy	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity	.
HP:0002716	HP:0002716	Lymphadenopathy	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0002716	HP:0002716	Lymphadenopathy	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	48
HP:0002716	HP:0002716	Lymphadenopathy	0	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040282 - Frequent	2
HP:0002716	HP:0002716	Lymphadenopathy	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002716	HP:0002716	Lymphadenopathy	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	94
HP:0002716	HP:0002716	Lymphadenopathy	0	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	.	94
HP:0002716	HP:0002716	Lymphadenopathy	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0002716	HP:0002716	Lymphadenopathy	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0002716	HP:0002716	Lymphadenopathy	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0002716	HP:0002716	Lymphadenopathy	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	4
HP:0002716	HP:0002716	Lymphadenopathy	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease		1
HP:0002716	HP:0002716	Lymphadenopathy	0	IRF8 CL E G H	3394	5358	OMIM:614893	IMMUNODEFICIENCY 32A; IMD32A		5
HP:0002716	HP:0002716	Lymphadenopathy	0	IRF8 CL E G H	3394	5358	ORPHA:319600	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	HP:0040281 - Very frequent	5
HP:0002716	HP:0002716	Lymphadenopathy	0	ISG15 CL E G H	9636	4053	OMIM:616126	Immunodeficiency 38 with basal ganglia calcification		4
HP:0002716	HP:0002716	Lymphadenopathy	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0002716	HP:0002716	Lymphadenopathy	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0002716	HP:0002716	Lymphadenopathy	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0002716	HP:0002716	Lymphadenopathy	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002716	HP:0002716	Lymphadenopathy	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	196
HP:0002716	HP:0002716	Lymphadenopathy	0	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		196
HP:0002716	HP:0002716	Lymphadenopathy	0	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040282 - Frequent	1
HP:0002716	HP:0002716	Lymphadenopathy	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0002716	HP:0002716	Lymphadenopathy	0	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease	HP:0040283 - Occasional	26
HP:0002716	HP:0002716	Lymphadenopathy	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional	88
HP:0002716	HP:0002716	Lymphadenopathy	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	88
HP:0002716	HP:0002716	Lymphadenopathy	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002716	HP:0002716	Lymphadenopathy	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0002716	HP:0002716	Lymphadenopathy	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0002716	HP:0002716	Lymphadenopathy	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0002716	HP:0002716	Lymphadenopathy	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	6
HP:0002716	HP:0002716	Lymphadenopathy	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54	.	69
HP:0002716	HP:0002716	Lymphadenopathy	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0002716	HP:0002716	Lymphadenopathy	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional	281
HP:0002716	HP:0002716	Lymphadenopathy	0	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040282 - Frequent	1
HP:0002716	HP:0002716	Lymphadenopathy	0	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		3
HP:0002716	HP:0002716	Lymphadenopathy	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0002716	HP:0002716	Lymphadenopathy	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	1
HP:0002716	HP:0002716	Lymphadenopathy	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0002716	HP:0002716	Lymphadenopathy	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040281 - Very frequent	150
HP:0002716	HP:0002716	Lymphadenopathy	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0002716	HP:0002716	Lymphadenopathy	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0002716	HP:0002716	Lymphadenopathy	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0002716	HP:0002716	Lymphadenopathy	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease		13
HP:0002716	HP:0002716	Lymphadenopathy	0	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I	.	13
HP:0002716	HP:0002716	Lymphadenopathy	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease		67
HP:0002716	HP:0002716	Lymphadenopathy	0	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II	.	67
HP:0002716	HP:0002716	Lymphadenopathy	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease		37
HP:0002716	HP:0002716	Lymphadenopathy	0	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0002716	HP:0002716	Lymphadenopathy	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	7
HP:0002716	HP:0002716	Lymphadenopathy	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	11
HP:0002716	HP:0002716	Lymphadenopathy	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0002716	HP:0002716	Lymphadenopathy	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040282 - Frequent	217
HP:0002716	HP:0002716	Lymphadenopathy	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0002716	HP:0002716	Lymphadenopathy	0	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation	.	217
HP:0002716	HP:0002716	Lymphadenopathy	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional	187
HP:0002716	HP:0002716	Lymphadenopathy	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0002716	HP:0002716	Lymphadenopathy	0	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic		102
HP:0002716	HP:0002716	Lymphadenopathy	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0002716	HP:0002716	Lymphadenopathy	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0002716	HP:0002716	Lymphadenopathy	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0002716	HP:0002716	Lymphadenopathy	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	1349
HP:0002716	HP:0002716	Lymphadenopathy	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	192
HP:0002716	HP:0002716	Lymphadenopathy	0	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14		9
HP:0002716	HP:0002716	Lymphadenopathy	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0002716	HP:0002716	Lymphadenopathy	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	3
HP:0002716	HP:0002716	Lymphadenopathy	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2	.	2
HP:0002716	HP:0002716	Lymphadenopathy	0	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0002716	HP:0002716	Lymphadenopathy	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0002716	HP:0002716	Lymphadenopathy	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0002716	HP:0002716	Lymphadenopathy	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	134
HP:0002716	HP:0002716	Lymphadenopathy	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040281 - Very frequent	10
HP:0002716	HP:0002716	Lymphadenopathy	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002716	HP:0002716	Lymphadenopathy	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	10
HP:0002716	HP:0002716	Lymphadenopathy	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0002716	HP:0002716	Lymphadenopathy	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0002716	HP:0002716	Lymphadenopathy	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0002716	HP:0002716	Lymphadenopathy	0	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0002716	HP:0002716	Lymphadenopathy	0	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	HP:0040282 - Frequent	96
HP:0002716	HP:0002716	Lymphadenopathy	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0002716	HP:0002716	Lymphadenopathy	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0002716	HP:0002716	Lymphadenopathy	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	3
HP:0002716	HP:0002716	Lymphadenopathy	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040282 - Frequent	67
HP:0002716	HP:0002716	Lymphadenopathy	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent
HP:0002716	HP:0002716	Lymphadenopathy	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0002716	HP:0002716	Lymphadenopathy	0	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0002716	HP:0002716	Lymphadenopathy	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	127
HP:0002716	HP:0002716	Lymphadenopathy	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0002716	HP:0002716	Lymphadenopathy	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	50
HP:0002716	HP:0002716	Lymphadenopathy	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0002716	HP:0002716	Lymphadenopathy	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	2
HP:0002716	HP:0002716	Lymphadenopathy	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040281 - Very frequent
HP:0002716	HP:0002716	Lymphadenopathy	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002716	HP:0002716	Lymphadenopathy	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency	HP:0040283 - Occasional	10
HP:0002716	HP:0002716	Lymphadenopathy	0	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	7
HP:0002716	HP:0002716	Lymphadenopathy	0	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0002716	HP:0002716	Lymphadenopathy	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	37
HP:0002716	HP:0002716	Lymphadenopathy	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome		7
HP:0002716	HP:0002716	Lymphadenopathy	0	RNF6 CL E G H	6049	10069	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040283 - Occasional	3
HP:0002716	HP:0002716	Lymphadenopathy	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0002716	HP:0002716	Lymphadenopathy	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0002716	HP:0002716	Lymphadenopathy	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0002716	HP:0002716	Lymphadenopathy	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome		129
HP:0002716	HP:0002716	Lymphadenopathy	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		37
HP:0002716	HP:0002716	Lymphadenopathy	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0002716	HP:0002716	Lymphadenopathy	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040282 - Frequent	68
HP:0002716	HP:0002716	Lymphadenopathy	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0002716	HP:0002716	Lymphadenopathy	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	504
HP:0002716	HP:0002716	Lymphadenopathy	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.	164
HP:0002716	HP:0002716	Lymphadenopathy	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	2
HP:0002716	HP:0002716	Lymphadenopathy	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0002716	HP:0002716	Lymphadenopathy	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0002716	HP:0002716	Lymphadenopathy	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0002716	HP:0002716	Lymphadenopathy	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0002716	HP:0002716	Lymphadenopathy	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0002716	HP:0002716	Lymphadenopathy	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	110
HP:0002716	HP:0002716	Lymphadenopathy	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0002716	HP:0002716	Lymphadenopathy	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent	2
HP:0002716	HP:0002716	Lymphadenopathy	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	2
HP:0002716	HP:0002716	Lymphadenopathy	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0002716	HP:0002716	Lymphadenopathy	0	STIM1 CL E G H	6786	11386	OMIM:612783	Immunodeficiency 10	.	31
HP:0002716	HP:0002716	Lymphadenopathy	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0002716	HP:0002716	Lymphadenopathy	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0002716	HP:0002716	Lymphadenopathy	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0002716	HP:0002716	Lymphadenopathy	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0002716	HP:0002716	Lymphadenopathy	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0002716	HP:0002716	Lymphadenopathy	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002716	HP:0002716	Lymphadenopathy	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	22
HP:0002716	HP:0002716	Lymphadenopathy	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	82
HP:0002716	HP:0002716	Lymphadenopathy	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0002716	HP:0002716	Lymphadenopathy	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0002716	HP:0002716	Lymphadenopathy	0	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0002716	HP:0002716	Lymphadenopathy	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0002716	HP:0002716	Lymphadenopathy	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0002716	HP:0002716	Lymphadenopathy	0	TGFBR2 CL E G H	7048	11773	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040283 - Occasional	253
HP:0002716	HP:0002716	Lymphadenopathy	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0002716	HP:0002716	Lymphadenopathy	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0002716	HP:0002716	Lymphadenopathy	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	32
HP:0002716	HP:0002716	Lymphadenopathy	0	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0002716	HP:0002716	Lymphadenopathy	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	12
HP:0002716	HP:0002716	Lymphadenopathy	0	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2	.	12
HP:0002716	HP:0002716	Lymphadenopathy	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0002716	HP:0002716	Lymphadenopathy	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040282 - Frequent	131
HP:0002716	HP:0002716	Lymphadenopathy	0	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040282 - Frequent
HP:0002716	HP:0002716	Lymphadenopathy	0	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome	HP:0040281 - Very frequent
HP:0002716	HP:0002716	Lymphadenopathy	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	44
HP:0002716	HP:0002716	Lymphadenopathy	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent	1
HP:0002716	HP:0002716	Lymphadenopathy	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent	911
HP:0002716	HP:0002716	Lymphadenopathy	0	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0040281 - Very frequent
HP:0002716	HP:0002716	Lymphadenopathy	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0002716	HP:0002716	Lymphadenopathy	0	TRAC CL E G H	28755	12029	OMIM:615387	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY	.	1
HP:0002716	HP:0002716	Lymphadenopathy	0	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0002716	HP:0002716	Lymphadenopathy	0	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	2
HP:0002716	HP:0002716	Lymphadenopathy	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	1090
HP:0002716	HP:0002716	Lymphadenopathy	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	2738
HP:0002716	HP:0002716	Lymphadenopathy	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002716	HP:0002716	Lymphadenopathy	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0002716	HP:0002716	Lymphadenopathy	0	UNG CL E G H	7374	12572	OMIM:608106	Immunodeficiency with hyper-igm, type 5	.	44
HP:0002716	HP:0002716	Lymphadenopathy	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002716	HP:0002716	Lymphadenopathy	0	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040281 - Very frequent	177
HP:0002716	HP:0002716	Lymphadenopathy	0	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional	177
HP:0002716	HP:0002716	Lymphadenopathy	0	WWOX CL E G H	51741	12799	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040283 - Occasional	149
HP:0002716	HP:0002716	Lymphadenopathy	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1		81
HP:0002716	HP:0002716	Lymphadenopathy	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional	9
HP:0002716	HP:0002716	Lymphadenopathy	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002716	HP:0002716	Lymphadenopathy	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional	46
HP:0002716	HP:0002716	Lymphadenopathy	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	1
HP:0002716	HP:0002716	Lymphadenopathy	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002716	HP:0034388	Hilar lymph node enlargement	1	CL E G H
HP:0002716	HP:0002730	Chronic noninfectious lymphadenopathy	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040282 - Frequent	191
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040281 - Very frequent	39
HP:0002716	HP:0025289	Cervical lymphadenopathy	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0002716	HP:0002730	Chronic noninfectious lymphadenopathy	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional	169
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	18
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent	1
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent	1
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0002716	HP:0002730	Chronic noninfectious lymphadenopathy	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040281 - Very frequent	87
HP:0002716	HP:0002729	Follicular hyperplasia	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0002716	HP:0002730	Chronic noninfectious lymphadenopathy	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.	87
HP:0002716	HP:0002729	Follicular hyperplasia	1	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2	.	38
HP:0002716	HP:0002729	Follicular hyperplasia	1	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2	.	10
HP:0002716	HP:0002729	Follicular hyperplasia	1	CTNNBL1 CL E G H	56259	15879	OMIM:619846
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	27
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	111
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0002716	HP:0002730	Chronic noninfectious lymphadenopathy	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional
HP:0002716	HP:0008940	Generalized lymphadenopathy	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0002716	HP:0025289	Cervical lymphadenopathy	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040282 - Frequent	40
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0002716	HP:0025289	Cervical lymphadenopathy	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040282 - Frequent	79
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040282 - Frequent
HP:0002716	HP:0002730	Chronic noninfectious lymphadenopathy	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0002716	HP:0002730	Chronic noninfectious lymphadenopathy	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040281 - Very frequent	59
HP:0002716	HP:0002729	Follicular hyperplasia	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	59
HP:0002716	HP:0002729	Follicular hyperplasia	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0002716	HP:0002730	Chronic noninfectious lymphadenopathy	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040281 - Very frequent	37
HP:0002716	HP:0002730	Chronic noninfectious lymphadenopathy	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.	37
HP:0002716	HP:0002730	Chronic noninfectious lymphadenopathy	1	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040282 - Frequent	9
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	184
HP:0002716	HP:0002730	Chronic noninfectious lymphadenopathy	1	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040282 - Frequent	58
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:133	Chronic beryllium disease	HP:0040283 - Occasional	1
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent	2
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0002716	HP:0008940	Generalized lymphadenopathy	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.	2
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0002716	HP:0025289	Cervical lymphadenopathy	1	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0002716	HP:0002729	Follicular hyperplasia	1	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0002716	HP:0008940	Generalized lymphadenopathy	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0002716	HP:0008940	Generalized lymphadenopathy	1	IFNGR1 CL E G H	3459	5439	OMIM:615978	Immunodeficiency 27B		60
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma	HP:0040281 - Very frequent	7
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	7
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent	1
HP:0002716	HP:0002729	Follicular hyperplasia	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	196
HP:0002716	HP:0008940	Generalized lymphadenopathy	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN		17
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	6
HP:0002716	HP:0002730	Chronic noninfectious lymphadenopathy	1	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040282 - Frequent	3
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	13
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	67
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent	37
HP:0002716	HP:0002729	Follicular hyperplasia	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.	102
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0002716	HP:0002730	Chronic noninfectious lymphadenopathy	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040281 - Very frequent	10
HP:0002716	HP:0008940	Generalized lymphadenopathy	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002716	HP:0002729	Follicular hyperplasia	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0002716	HP:0008940	Generalized lymphadenopathy	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0002716	HP:0025289	Cervical lymphadenopathy	1	RAC2 CL E G H	5880	9802	OMIM:618987	IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C		9
HP:0002716	HP:0002730	Chronic noninfectious lymphadenopathy	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040281 - Very frequent
HP:0002716	HP:0025289	Cervical lymphadenopathy	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002716	HP:0008940	Generalized lymphadenopathy	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0002716	HP:0002730	Chronic noninfectious lymphadenopathy	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040283 - Occasional	129
HP:0002716	HP:0033176	Submandibular lymph node enlargement	1	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0002716	HP:0025289	Cervical lymphadenopathy	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0002716	HP:0002729	Follicular hyperplasia	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0002716	HP:0033280	Paratracheal lymphadenopathy	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0002716	HP:0002729	Follicular hyperplasia	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0002716	HP:0002729	Follicular hyperplasia	1	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0002716	HP:0002729	Follicular hyperplasia	1	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0002716	HP:0002729	Follicular hyperplasia	1	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2	.	12
HP:0002716	HP:0025289	Cervical lymphadenopathy	1	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0002716	HP:0100721	Mediastinal lymphadenopathy	1	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040282 - Frequent	177

Genes (211) :ABCA1 ACP5 ADA ADA2 ADAMTS3 AICDA ANKRD55 APOE ARPC1B ASAH1 ASXL1 ATM ATRX BAP1 BCL10 BCL2 BCL6 BCOR BIRC3 BRCA1 BRCA2 BTNL2 C4A CALR CARD9 CASP10 CASP8 CBL CCBE1 CCND1 CCR1 CD19 CD247 CD27 CD28 CD70 CD81 CDKN2A CHD7 CLCN7 CR2 CTLA4 CTNNBL1 CYBA CYBB CYBC1 DAXX DCLRE1C DEF6 DIS3L2 DLEC1 DNASE1L3 EIF2AK4 ELANE ERAP1 EWSR1 FAS FASLG FAT4 FCHO1 FIP1L1 FOXE1 FOXP1 FOXP3 GATA2 GINS1 GPC3 H19 HABP2 HLA-B HLA-DPB1 HLA-DRB1 HMOX1 ICOS IFIH1 IFNGR1 IGH IL10 IL12A IL12A-AS1 IL23R IL2RA IL2RB IL2RG IL6 IL6ST IL7R IRAK1 IRF2BP2 IRF4 IRF8 ISG15 ITK JAK2 KIT KLRC4 KRAS LACC1 LAT LCAT LIG4 LRBA LYST MAGT1 MALT1 MCM4 MEFV MIF MINPP1 MPL MS4A1 MVK MYD88 NABP1 NCF1 NCF2 NCF4 NCKAP1L NFKB1 NFKB2 NLRP12 NLRP3 NOD2 NPM1 NRAS NUMA1 OTULIN P4HA2 PALB2 PALLD PIK3CD PIK3CG PML POMP POU6F2 PRF1 PRKAR1A PRKCD PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTPN2 PTPN22 RAB27A RABL3 RAC2 RAG1 RAG2 RARA RASGRP1 RBCK1 REST RIPK1 RMRP RNF168 RNF6 RNU4ATAC RUNX1 SDHD SH2D1A SH3BP2 SLC29A3 SMAD4 SMPD1 SNX10 SOCS1 SPP1 SRSF2 STAT1 STAT3 STAT4 STAT5B STIM1 STING1 STX11 STXBP2 SYK TBL1XR1 TCIRG1 TERT TET2 TGFBR2 TLR4 TLR8 TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF1B TNFSF11 TNFSF12 TP53 TPP2 TRAC TRIM28 TRIP13 TSC1 TSC2 UBAC2 UNC13D UNG WDR1 WT1 WWOX XIAP XRCC4 YARS1 ZAP70 ZBTB16 ZNFX1

Diseases (147) :ORPHA:31150 OMIM:607944 ORPHA:39041 OMIM:615688 ORPHA:2136 OMIM:605258 ORPHA:85408 ORPHA:158029 OMIM:617718 ORPHA:333 ORPHA:98850 ORPHA:98849 ORPHA:52416 ORPHA:100075 ORPHA:50251 ORPHA:52417 ORPHA:545 ORPHA:520 ORPHA:1333 ORPHA:654 ORPHA:797 OMIM:612387 ORPHA:117 ORPHA:824 OMIM:212050 ORPHA:3261 OMIM:603909 OMIM:607271 ORPHA:29073 ORPHA:1572 OMIM:240500 OMIM:615122 ORPHA:2584 ORPHA:3162 OMIM:618261 ORPHA:667 OMIM:616100 OMIM:619846 ORPHA:379 OMIM:233690 OMIM:306400 OMIM:618935 OMIM:603554 OMIM:602450 OMIM:619573 ORPHA:99977 ORPHA:36412 ORPHA:199241 OMIM:234810 ORPHA:2686 ORPHA:83469 OMIM:601859 OMIM:619164 ORPHA:319487 ORPHA:37042 OMIM:304790 ORPHA:3226 OMIM:617827 ORPHA:397 ORPHA:133 OMIM:181000 ORPHA:85414 OMIM:614034 OMIM:607594 OMIM:615846 OMIM:209950 OMIM:615978 OMIM:606367 OMIM:618495 OMIM:619750 OMIM:608971 ORPHA:169154 ORPHA:93552 ORPHA:3452 OMIM:614893 ORPHA:319600 OMIM:616126 OMIM:613011 OMIM:614470 OMIM:617514 ORPHA:79292 ORPHA:99812 OMIM:614700 ORPHA:167 OMIM:214500 OMIM:300853 OMIM:609981 ORPHA:342 OMIM:260920 ORPHA:343 OMIM:610377 ORPHA:33226 OMIM:233700 OMIM:233710 OMIM:618982 OMIM:611762 ORPHA:1451 OMIM:607115 OMIM:617772 ORPHA:90340 OMIM:617099 OMIM:615513 OMIM:619802 OMIM:618048 ORPHA:540 OMIM:603553 OMIM:615559 OMIM:617591 OMIM:256040 OMIM:619183 ORPHA:69126 ORPHA:79477 OMIM:618986 OMIM:618987 OMIM:618534 OMIM:615895 OMIM:618852 ORPHA:420741 OMIM:616651 ORPHA:353298 ORPHA:100093 OMIM:308240 OMIM:118400 ORPHA:168569 OMIM:602782 OMIM:257200 OMIM:619375 OMIM:614162 OMIM:612783 OMIM:615934 OMIM:603552 OMIM:613101 OMIM:619381 OMIM:614742 OMIM:619126 OMIM:301078 OMIM:142680 ORPHA:32960 ORPHA:444463 OMIM:619220 OMIM:615387 ORPHA:538 OMIM:608106 OMIM:150550 OMIM:619418 ORPHA:911 OMIM:619644

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

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