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:
Abdominal symptom (HP:0011458)

Parent Node:
Diarrhea (HP:0002014)

..Starting node
..Bloody diarrhea (HP:0025085)

Term ID:

25085

Name:

Bloody diarrhea

Synonym:

Blood in stool; Bloody bowel movement; Bloody diarrhea; Bloody diarrhoea; Bloody stool

Definition:

Passage of many stools containing blood.

Comments:

Reference:

HP:0025085

Genes and Diseases:

Child Nodes:

........

Melena (HP:0002249)

........

Hematochezia (HP:0002573)

........

Bloody mucoid diarrhea (HP:0025086)

Sister Nodes:

Chronic diarrhea (HP:0002028)

Intermittent diarrhea (HP:0002254)

Intractable diarrhea (HP:0002041)

Protracted diarrhea (HP:0004385)

Secretory diarrhea (HP:0005208)

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:0025085	HP:0025085	Bloody diarrhea	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0025085	HP:0025085	Bloody diarrhea	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0025085	HP:0025085	Bloody diarrhea	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	2
HP:0025085	HP:0025085	Bloody diarrhea	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0025085	HP:0025085	Bloody diarrhea	0	APC CL E G H	324	583	OMIM:619182	GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS		3179
HP:0025085	HP:0025085	Bloody diarrhea	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0025085	HP:0025085	Bloody diarrhea	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0025085	HP:0025085	Bloody diarrhea	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional	169
HP:0025085	HP:0025085	Bloody diarrhea	0	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		385
HP:0025085	HP:0025085	Bloody diarrhea	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0025085	HP:0025085	Bloody diarrhea	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0025085	HP:0025085	Bloody diarrhea	0	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0025085	HP:0025085	Bloody diarrhea	0	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0025085	HP:0025085	Bloody diarrhea	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0025085	HP:0025085	Bloody diarrhea	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0025085	HP:0025085	Bloody diarrhea	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0025085	HP:0025085	Bloody diarrhea	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0025085	HP:0025085	Bloody diarrhea	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0025085	HP:0025085	Bloody diarrhea	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0025085	HP:0025085	Bloody diarrhea	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional
HP:0025085	HP:0025085	Bloody diarrhea	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	257
HP:0025085	HP:0025085	Bloody diarrhea	0	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		186
HP:0025085	HP:0025085	Bloody diarrhea	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0025085	HP:0025085	Bloody diarrhea	0	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency		159
HP:0025085	HP:0025085	Bloody diarrhea	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0025085	HP:0025085	Bloody diarrhea	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		23
HP:0025085	HP:0025085	Bloody diarrhea	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		8
HP:0025085	HP:0025085	Bloody diarrhea	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0025085	HP:0025085	Bloody diarrhea	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0025085	HP:0025085	Bloody diarrhea	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0025085	HP:0025085	Bloody diarrhea	0	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28		64
HP:0025085	HP:0025085	Bloody diarrhea	0	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0025085	HP:0025085	Bloody diarrhea	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		119
HP:0025085	HP:0025085	Bloody diarrhea	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		69
HP:0025085	HP:0025085	Bloody diarrhea	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		80
HP:0025085	HP:0025085	Bloody diarrhea	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III		1
HP:0025085	HP:0025085	Bloody diarrhea	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0025085	HP:0025085	Bloody diarrhea	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent	11
HP:0025085	HP:0025085	Bloody diarrhea	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0025085	HP:0025085	Bloody diarrhea	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0025085	HP:0025085	Bloody diarrhea	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III
HP:0025085	HP:0025085	Bloody diarrhea	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0025085	HP:0025085	Bloody diarrhea	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0025085	HP:0025085	Bloody diarrhea	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0025085	HP:0025085	Bloody diarrhea	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0025085	HP:0025085	Bloody diarrhea	0	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		504
HP:0025085	HP:0025085	Bloody diarrhea	0	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0025085	HP:0025085	Bloody diarrhea	0	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		504
HP:0025085	HP:0025085	Bloody diarrhea	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0025085	HP:0025085	Bloody diarrhea	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0025085	HP:0025085	Bloody diarrhea	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0025085	HP:0025085	Bloody diarrhea	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0025085	HP:0025085	Bloody diarrhea	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent	26
HP:0025085	HP:0025085	Bloody diarrhea	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0025085	HP:0025085	Bloody diarrhea	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0025085	HP:0025085	Bloody diarrhea	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0025085	HP:0025085	Bloody diarrhea	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0025085	HP:0025086	Bloody mucoid diarrhea	1	CL E G H
HP:0025085	HP:0002249	Melena	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0025085	HP:0002573	Hematochezia	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0025085	HP:0002573	Hematochezia	1	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0025085	HP:0002249	Melena	1	APC CL E G H	324	583	OMIM:619182	GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS		3179
HP:0025085	HP:0002573	Hematochezia	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0025085	HP:0002249	Melena	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0025085	HP:0002573	Hematochezia	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0025085	HP:0002249	Melena	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional	169
HP:0025085	HP:0002573	Hematochezia	1	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	385
HP:0025085	HP:0002573	Hematochezia	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040281 - Very frequent	385
HP:0025085	HP:0002249	Melena	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	385
HP:0025085	HP:0002573	Hematochezia	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	385
HP:0025085	HP:0002573	Hematochezia	1	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0025085	HP:0002249	Melena	1	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional
HP:0025085	HP:0002249	Melena	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0025085	HP:0002249	Melena	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0025085	HP:0002249	Melena	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0025085	HP:0002249	Melena	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0025085	HP:0002573	Hematochezia	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0025085	HP:0002249	Melena	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional
HP:0025085	HP:0002573	Hematochezia	1	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	186
HP:0025085	HP:0002573	Hematochezia	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0025085	HP:0002249	Melena	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0025085	HP:0002573	Hematochezia	1	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency	HP:0040284 - Very rare	159
HP:0025085	HP:0002249	Melena	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0025085	HP:0002249	Melena	1	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	23
HP:0025085	HP:0002249	Melena	1	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	8
HP:0025085	HP:0002573	Hematochezia	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040281 - Very frequent	9
HP:0025085	HP:0002573	Hematochezia	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.	121
HP:0025085	HP:0002573	Hematochezia	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0025085	HP:0002573	Hematochezia	1	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28		64
HP:0025085	HP:0002249	Melena	1	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	119
HP:0025085	HP:0002249	Melena	1	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	69
HP:0025085	HP:0002249	Melena	1	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	80
HP:0025085	HP:0002249	Melena	1	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040283 - Occasional	1
HP:0025085	HP:0002249	Melena	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0025085	HP:0002573	Hematochezia	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0025085	HP:0002249	Melena	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	948
HP:0025085	HP:0002573	Hematochezia	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	948
HP:0025085	HP:0002249	Melena	1	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040283 - Occasional
HP:0025085	HP:0002573	Hematochezia	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0025085	HP:0002573	Hematochezia	1	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	504
HP:0025085	HP:0002573	Hematochezia	1	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0025085	HP:0002573	Hematochezia	1	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	.	504
HP:0025085	HP:0002249	Melena	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	HP:0040283 - Occasional	1
HP:0025085	HP:0002573	Hematochezia	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0025085	HP:0002573	Hematochezia	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	.	26
HP:0025085	HP:0002573	Hematochezia	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	65
HP:0025085	HP:0002249	Melena	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0025085	HP:0002573	Hematochezia	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	6

Genes (46) :ACVRL1 ADAM17 AMACR APC ARPC1B ATRX BMPR1A CARD8 CD109 CDKN1A CDKN1B CDKN2B CDKN2C CYP7B1 DAXX EGFR ENG F5 FAH GP1BA GP1BB GREM1 HPS1 IFIH1 IL10RA IL37 ITGA2 ITGA2B ITGB3 KIF23 MEN1 PI4KA PLVAP PTEN RACGAP1 RBCK1 SKIC2 SKIC3 SMAD4 SREBF1 STK11 TAOK1 TGFB1 TTC7A WAS WIPF1

Diseases (37) :OMIM:600376 OMIM:614328 ORPHA:294023 ORPHA:79095 OMIM:619182 ORPHA:99818 OMIM:617718 ORPHA:100075 ORPHA:329971 ORPHA:157794 ORPHA:79076 OMIM:174900 OMIM:619079 ORPHA:853 ORPHA:652 OMIM:613812 OMIM:187300 ORPHA:326 OMIM:276700 OMIM:203300 OMIM:615846 OMIM:613148 OMIM:619398 ORPHA:98870 ORPHA:436252 OMIM:618183 OMIM:615895 ORPHA:84064 OMIM:614602 OMIM:175050 OMIM:158310 OMIM:175200 OMIM:619575 OMIM:618213 OMIM:243150 OMIM:301000 ORPHA:906

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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