Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Functional abnormality of the gastrointestinal tract (HP:0012719)

Grandparent Node:
Increased inflammatory response (HP:0012649)

Parent Node:
Abnormal large intestine morphology (HP:0002250)

Parent Node:
Gastrointestinal inflammation (HP:0004386)

..Starting node
..Inflammation of the large intestine (HP:0002037)

Term ID:

2037

Name:

Inflammation of the large intestine

Synonym:

Inflammation of the large intestine; Inflammatory bowel disease

Definition:

Inflammation, or an inflammatory state in the large intestine.

Comments:

Reference:

HP:0002037

Genes and Diseases:

Child Nodes:

........

Colitis (HP:0002583)

................... HP:0100281 Chronic colitis
................... HP:0100282 Acute colitis

........

Colonic eosinophilia (HP:0031813)

Sister Nodes:

Crohn's disease (HP:0100280)

Esophagitis (HP:0100633)

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:0002037	HP:0002037	Inflammation of the large intestine	0	ABCB1 CL E G H	5243	40	OMIM:612244	Inflammatory bowel disease 13	.	7
HP:0002037	HP:0002037	Inflammation of the large intestine	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0002037	HP:0002037	Inflammation of the large intestine	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	.
HP:0002037	HP:0002037	Inflammation of the large intestine	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002037	HP:0002037	Inflammation of the large intestine	0	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0002037	HP:0002037	Inflammation of the large intestine	0	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0002037	HP:0002037	Inflammation of the large intestine	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002037	HP:0002037	Inflammation of the large intestine	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0002037	HP:0002037	Inflammation of the large intestine	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0002037	HP:0002037	Inflammation of the large intestine	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0002037	HP:0002037	Inflammation of the large intestine	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002037	HP:0002037	Inflammation of the large intestine	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002037	HP:0002037	Inflammation of the large intestine	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002037	HP:0002037	Inflammation of the large intestine	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0002037	HP:0002037	Inflammation of the large intestine	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0002037	HP:0002037	Inflammation of the large intestine	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040284 - Very rare	60
HP:0002037	HP:0002037	Inflammation of the large intestine	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040284 - Very rare	32
HP:0002037	HP:0002037	Inflammation of the large intestine	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0002037	HP:0002037	Inflammation of the large intestine	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0002037	HP:0002037	Inflammation of the large intestine	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002037	HP:0002037	Inflammation of the large intestine	0	FCN3 CL E G H	8547	3625	OMIM:613860	FICOLIN 3 DEFICIENCY		1
HP:0002037	HP:0002037	Inflammation of the large intestine	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional	136
HP:0002037	HP:0002037	Inflammation of the large intestine	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0002037	HP:0002037	Inflammation of the large intestine	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0002037	HP:0002037	Inflammation of the large intestine	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0002037	HP:0002037	Inflammation of the large intestine	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040282 - Frequent	4
HP:0002037	HP:0002037	Inflammation of the large intestine	0	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1	.	4
HP:0002037	HP:0002037	Inflammation of the large intestine	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.	2
HP:0002037	HP:0002037	Inflammation of the large intestine	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.	121
HP:0002037	HP:0002037	Inflammation of the large intestine	0	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28		64
HP:0002037	HP:0002037	Inflammation of the large intestine	0	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0002037	HP:0002037	Inflammation of the large intestine	0	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0002037	HP:0002037	Inflammation of the large intestine	0	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0002037	HP:0002037	Inflammation of the large intestine	0	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	2
HP:0002037	HP:0002037	Inflammation of the large intestine	0	INAVA CL E G H	55765	25599	OMIM:618077	INFLAMMATORY BOWEL DISEASE 29; IBD29
HP:0002037	HP:0002037	Inflammation of the large intestine	0	IRGM CL E G H	345611	29597	OMIM:612278	Inflammatory bowel disease 19	.	1
HP:0002037	HP:0002037	Inflammation of the large intestine	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0002037	HP:0002037	Inflammation of the large intestine	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0002037	HP:0002037	Inflammation of the large intestine	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002037	HP:0002037	Inflammation of the large intestine	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0002037	HP:0002037	Inflammation of the large intestine	0	MASP2 CL E G H	10747	6902	OMIM:613791	Masp2 deficiency		41
HP:0002037	HP:0002037	Inflammation of the large intestine	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040283 - Occasional	281
HP:0002037	HP:0002037	Inflammation of the large intestine	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0002037	HP:0002037	Inflammation of the large intestine	0	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0002037	HP:0002037	Inflammation of the large intestine	0	NCF4 CL E G H	4689	7662	OMIM:613960	Chronic granulomatous disease 3, autosomal recessive		37
HP:0002037	HP:0002037	Inflammation of the large intestine	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0002037	HP:0002037	Inflammation of the large intestine	0	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	187
HP:0002037	HP:0002037	Inflammation of the large intestine	0	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency		5
HP:0002037	HP:0002037	Inflammation of the large intestine	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0002037	HP:0002037	Inflammation of the large intestine	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0002037	HP:0002037	Inflammation of the large intestine	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0002037	HP:0002037	Inflammation of the large intestine	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0002037	HP:0002037	Inflammation of the large intestine	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0002037	HP:0002037	Inflammation of the large intestine	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0002037	HP:0002037	Inflammation of the large intestine	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0002037	HP:0002037	Inflammation of the large intestine	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0002037	HP:0002037	Inflammation of the large intestine	0	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne		96
HP:0002037	HP:0002037	Inflammation of the large intestine	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0002037	HP:0002037	Inflammation of the large intestine	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0002037	HP:0002037	Inflammation of the large intestine	0	RET CL E G H	5979	9967	OMIM:142623	Hirschsprung disease, susceptibility to, 1		572
HP:0002037	HP:0002037	Inflammation of the large intestine	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0002037	HP:0002037	Inflammation of the large intestine	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0002037	HP:0002037	Inflammation of the large intestine	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0002037	HP:0002037	Inflammation of the large intestine	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0002037	HP:0002037	Inflammation of the large intestine	0	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5		77
HP:0002037	HP:0002037	Inflammation of the large intestine	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0002037	HP:0002037	Inflammation of the large intestine	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0002037	HP:0002037	Inflammation of the large intestine	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0002037	HP:0002037	Inflammation of the large intestine	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0002037	HP:0002037	Inflammation of the large intestine	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0002037	HP:0002037	Inflammation of the large intestine	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0002037	HP:0002037	Inflammation of the large intestine	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0002037	HP:0002037	Inflammation of the large intestine	0	SLC9A3 CL E G H	6550	11073	OMIM:616868	Diarrhea 8, secretory sodium, congenital	HP:0040283 - Occasional	7
HP:0002037	HP:0002037	Inflammation of the large intestine	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0002037	HP:0002037	Inflammation of the large intestine	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0002037	HP:0002037	Inflammation of the large intestine	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0002037	HP:0002037	Inflammation of the large intestine	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0002037	HP:0002037	Inflammation of the large intestine	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002037	HP:0002037	Inflammation of the large intestine	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0002037	HP:0002037	Inflammation of the large intestine	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0002037	HP:0002037	Inflammation of the large intestine	0	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0002037	HP:0002037	Inflammation of the large intestine	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002037	HP:0002037	Inflammation of the large intestine	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0002037	HP:0002037	Inflammation of the large intestine	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0002037	HP:0002037	Inflammation of the large intestine	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0002037	HP:0002037	Inflammation of the large intestine	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	65
HP:0002037	HP:0002037	Inflammation of the large intestine	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	6
HP:0002037	HP:0002037	Inflammation of the large intestine	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2	.	81
HP:0002037	HP:0002037	Inflammation of the large intestine	0	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0002037	HP:0002037	Inflammation of the large intestine	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0002037	HP:0002583	Colitis	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0002037	HP:0031813	Colonic eosinophilia	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0002037	HP:0002583	Colitis	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002037	HP:0002583	Colitis	1	BCL10 CL E G H	8915	989	OMIM:616098	IMMUNODEFICIENCY 37; IMD37		18
HP:0002037	HP:0002583	Colitis	1	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0002037	HP:0002583	Colitis	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002037	HP:0002583	Colitis	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	87
HP:0002037	HP:0002583	Colitis	1	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0002037	HP:0002583	Colitis	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002037	HP:0002583	Colitis	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002037	HP:0002583	Colitis	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002037	HP:0002583	Colitis	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia		79
HP:0002037	HP:0002583	Colitis	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0002037	HP:0002583	Colitis	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	59
HP:0002037	HP:0002583	Colitis	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	37
HP:0002037	HP:0002583	Colitis	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002037	HP:0002583	Colitis	1	FCN3 CL E G H	8547	3625	OMIM:613860	FICOLIN 3 DEFICIENCY		1
HP:0002037	HP:0002583	Colitis	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040282 - Frequent	136
HP:0002037	HP:0002583	Colitis	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040284 - Very rare	32
HP:0002037	HP:0002583	Colitis	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID	HP:0040283 - Occasional	12
HP:0002037	HP:0002583	Colitis	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0002037	HP:0002583	Colitis	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.	121
HP:0002037	HP:0002583	Colitis	1	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28		64
HP:0002037	HP:0002583	Colitis	1	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0002037	HP:0002583	Colitis	1	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0002037	HP:0002583	Colitis	1	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease		2
HP:0002037	HP:0002583	Colitis	1	INAVA CL E G H	55765	25599	OMIM:618077	INFLAMMATORY BOWEL DISEASE 29; IBD29
HP:0002037	HP:0002583	Colitis	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0002037	HP:0031813	Colonic eosinophilia	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0002037	HP:0002583	Colitis	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002037	HP:0002583	Colitis	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0002037	HP:0002583	Colitis	1	MASP2 CL E G H	10747	6902	OMIM:613791	Masp2 deficiency		41
HP:0002037	HP:0002583	Colitis	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0002037	HP:0002583	Colitis	1	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0002037	HP:0002583	Colitis	1	NCF4 CL E G H	4689	7662	OMIM:613960	Chronic granulomatous disease 3, autosomal recessive	.	37
HP:0002037	HP:0002583	Colitis	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0002037	HP:0002583	Colitis	1	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease		187
HP:0002037	HP:0002583	Colitis	1	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency		5
HP:0002037	HP:0002583	Colitis	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0002037	HP:0002583	Colitis	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0002037	HP:0002583	Colitis	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0002037	HP:0002583	Colitis	1	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0002037	HP:0002583	Colitis	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0002037	HP:0002583	Colitis	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	58
HP:0002037	HP:0002583	Colitis	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare	10
HP:0002037	HP:0002583	Colitis	1	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne		96
HP:0002037	HP:0002583	Colitis	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0002037	HP:0002583	Colitis	1	RET CL E G H	5979	9967	OMIM:142623	Hirschsprung disease, susceptibility to, 1		572
HP:0002037	HP:0002583	Colitis	1	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0002037	HP:0002583	Colitis	1	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0002037	HP:0002583	Colitis	1	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0002037	HP:0002583	Colitis	1	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5	HP:0040283 - Occasional	77
HP:0002037	HP:0002583	Colitis	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0002037	HP:0002583	Colitis	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0002037	HP:0002583	Colitis	1	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0002037	HP:0002583	Colitis	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0002037	HP:0002583	Colitis	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0002037	HP:0002583	Colitis	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0002037	HP:0002583	Colitis	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	85
HP:0002037	HP:0002583	Colitis	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	70
HP:0002037	HP:0002583	Colitis	1	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0002037	HP:0002583	Colitis	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002037	HP:0002583	Colitis	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0002037	HP:0002583	Colitis	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0002037	HP:0002583	Colitis	1	TNFAIP3 CL E G H	7128	11896	OMIM:616744	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL		26
HP:0002037	HP:0002583	Colitis	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002037	HP:0002583	Colitis	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0002037	HP:0002583	Colitis	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional	116
HP:0002037	HP:0002583	Colitis	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0002037	HP:0002583	Colitis	1	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2	.	81
HP:0002037	HP:0002583	Colitis	1	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0002037	HP:0002583	Colitis	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional	46
HP:0002037	HP:0100282	Acute colitis	2	CL E G H
HP:0002037	HP:0004387	Enterocolitis	2	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0002037	HP:0100281	Chronic colitis	2	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002037	HP:0033256	Pancolitis	2	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0002037	HP:0100281	Chronic colitis	2	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002037	HP:0004387	Enterocolitis	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002037	HP:0033164	Focal active colitis	2	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002037	HP:0004387	Enterocolitis	2	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040284 - Very rare	79
HP:0002037	HP:0004387	Enterocolitis	2	FCN3 CL E G H	8547	3625	OMIM:613860	FICOLIN 3 DEFICIENCY		1
HP:0002037	HP:0100281	Chronic colitis	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0002037	HP:0004387	Enterocolitis	2	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28		64
HP:0002037	HP:0033256	Pancolitis	2	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0002037	HP:0004387	Enterocolitis	2	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0002037	HP:0100281	Chronic colitis	2	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0002037	HP:0100281	Chronic colitis	2	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease		2
HP:0002037	HP:0100281	Chronic colitis	2	INAVA CL E G H	55765	25599	OMIM:618077	INFLAMMATORY BOWEL DISEASE 29; IBD29
HP:0002037	HP:0100281	Chronic colitis	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0002037	HP:0100281	Chronic colitis	2	MASP2 CL E G H	10747	6902	OMIM:613791	Masp2 deficiency		41
HP:0002037	HP:0100281	Chronic colitis	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0002037	HP:0004387	Enterocolitis	2	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0002037	HP:0004387	Enterocolitis	2	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0002037	HP:0100281	Chronic colitis	2	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease		187
HP:0002037	HP:0004387	Enterocolitis	2	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency	.	5
HP:0002037	HP:0004387	Enterocolitis	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0002037	HP:0004387	Enterocolitis	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0002037	HP:0004387	Enterocolitis	2	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0002037	HP:0100281	Chronic colitis	2	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0002037	HP:0004387	Enterocolitis	2	RET CL E G H	5979	9967	OMIM:142623	Hirschsprung disease, susceptibility to, 1	.	572
HP:0002037	HP:0100281	Chronic colitis	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0002037	HP:0004387	Enterocolitis	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0002037	HP:0100281	Chronic colitis	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0002037	HP:0004387	Enterocolitis	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0002037	HP:0100281	Chronic colitis	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0002037	HP:0033256	Pancolitis	2	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0002037	HP:0004387	Enterocolitis	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0002037	HP:0004387	Enterocolitis	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0002037	HP:0100281	Chronic colitis	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0002037	HP:0033165	Necrotizing enterocolitis	3	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0002037	HP:0100279	Ulcerative colitis	3	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002037	HP:0100279	Ulcerative colitis	3	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002037	HP:0033165	Necrotizing enterocolitis	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002037	HP:0033165	Necrotizing enterocolitis	3	FCN3 CL E G H	8547	3625	OMIM:613860	FICOLIN 3 DEFICIENCY		1
HP:0002037	HP:0100279	Ulcerative colitis	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	2
HP:0002037	HP:0100279	Ulcerative colitis	3	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0002037	HP:0100279	Ulcerative colitis	3	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	2
HP:0002037	HP:0100279	Ulcerative colitis	3	INAVA CL E G H	55765	25599	OMIM:618077	INFLAMMATORY BOWEL DISEASE 29; IBD29
HP:0002037	HP:0100279	Ulcerative colitis	3	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional	11
HP:0002037	HP:0100279	Ulcerative colitis	3	MASP2 CL E G H	10747	6902	OMIM:613791	Masp2 deficiency		41
HP:0002037	HP:0100279	Ulcerative colitis	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	1
HP:0002037	HP:0033165	Necrotizing enterocolitis	3	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0002037	HP:0100279	Ulcerative colitis	3	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	187
HP:0002037	HP:0033165	Necrotizing enterocolitis	3	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0002037	HP:0100279	Ulcerative colitis	3	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	HP:0040283 - Occasional	21
HP:0002037	HP:0100279	Ulcerative colitis	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0002037	HP:0100279	Ulcerative colitis	3	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040282 - Frequent	110
HP:0002037	HP:0100279	Ulcerative colitis	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	241
HP:0002037	HP:0100279	Ulcerative colitis	3	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65

Genes (83) :ABCB1 ACADVL ARPC1B BACH2 BCL10 CARD8 CARMIL2 CASP10 CIITA COG6 CYBC1 DEF6 DOCK2 ELANE ELF4 F13A1 F13B FAS FASLG FCHO1 FCN3 FERMT1 FOXP3 GPIHBP1 GPR35 HLA-B HLA-DRB1 HPS1 IL10RA IL10RB IL21 IL37 IL6 INAVA IRGM IVNS1ABP JAK1 LRBA MAP3K7 MASP2 MEFV MST1 MYH11 NCF4 NLRC4 NOD2 OPLAH PI4KA PIGY PIK3CD PIK3CG PLCG2 POLA1 PRF1 PRKCD PSTPIP1 RASGRP1 RBCK1 RET RFX5 RFXANK RFXAP RIPK1 RTEL1 SEMA4D SKIC2 SKIC3 SLC37A4 SLC9A3 STAT1 STX11 STXBP2 SYK TCF4 TGFB1 TNFAIP3 TOM1 TTC7A UNC13D WAS WIPF1 XIAP ZAP70

Diseases (72) :OMIM:612244 OMIM:201475 OMIM:617718 OMIM:618394 OMIM:616098 OMIM:619079 OMIM:618131 ORPHA:3261 OMIM:209920 OMIM:614576 OMIM:618935 OMIM:619573 OMIM:616433 ORPHA:2686 OMIM:301074 ORPHA:331 OMIM:619164 OMIM:613860 ORPHA:2908 ORPHA:37042 OMIM:615947 ORPHA:171 ORPHA:29207 OMIM:106300 OMIM:181000 OMIM:203300 OMIM:613148 OMIM:612567 OMIM:615767 OMIM:619398 OMIM:266600 OMIM:618077 OMIM:612278 OMIM:618969 OMIM:618999 OMIM:614700 OMIM:617137 OMIM:613791 ORPHA:3243 OMIM:619350 OMIM:613960 OMIM:616050 OMIM:260005 OMIM:619708 OMIM:616809 OMIM:619281 OMIM:619802 OMIM:614878 OMIM:301220 ORPHA:540 OMIM:604416 OMIM:615895 OMIM:142623 OMIM:618108 OMIM:615190 ORPHA:84064 OMIM:614602 ORPHA:79259 OMIM:232220 OMIM:232240 OMIM:616868 ORPHA:391487 OMIM:613101 OMIM:619381 OMIM:618213 OMIM:616744 OMIM:243150 OMIM:301000 ORPHA:906 OMIM:300635 OMIM:617006 ORPHA:911

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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