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

Grandparent Node:
Internal hemorrhage (HP:0011029)

Parent Node:
Bloody diarrhea (HP:0025085)

Parent Node:
Gastrointestinal hemorrhage (HP:0002239)

..Starting node
..Melena (HP:0002249)

Term ID:

2249

Name:

Melena

Synonym:

Black faeces; Black feces

Definition:

The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.

Comments:

Reference:

HP:0002249

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hematemesis (HP:0002248)

Hematochezia (HP:0002573)

Intestinal bleeding (HP:0002584)

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:0002249	HP:0002249	Melena	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0002249	HP:0002249	Melena	0	APC CL E G H	324	583	OMIM:619182	GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS		3179
HP:0002249	HP:0002249	Melena	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0002249	HP:0002249	Melena	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional	169
HP:0002249	HP:0002249	Melena	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	385
HP:0002249	HP:0002249	Melena	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional
HP:0002249	HP:0002249	Melena	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0002249	HP:0002249	Melena	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0002249	HP:0002249	Melena	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0002249	HP:0002249	Melena	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0002249	HP:0002249	Melena	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional
HP:0002249	HP:0002249	Melena	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0002249	HP:0002249	Melena	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0002249	HP:0002249	Melena	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	23
HP:0002249	HP:0002249	Melena	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	8
HP:0002249	HP:0002249	Melena	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	119
HP:0002249	HP:0002249	Melena	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	69
HP:0002249	HP:0002249	Melena	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	80
HP:0002249	HP:0002249	Melena	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040283 - Occasional	1
HP:0002249	HP:0002249	Melena	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0002249	HP:0002249	Melena	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	948
HP:0002249	HP:0002249	Melena	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040283 - Occasional
HP:0002249	HP:0002249	Melena	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	HP:0040283 - Occasional	1
HP:0002249	HP:0002249	Melena	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65

Genes (23) :ACVRL1 APC ATRX BMPR1A CD109 CDKN1A CDKN1B CDKN2B CDKN2C DAXX ENG FAH GP1BA GP1BB ITGA2 ITGA2B ITGB3 KIF23 MEN1 PTEN RACGAP1 SREBF1 WAS

Diseases (12) :OMIM:600376 OMIM:619182 ORPHA:99818 ORPHA:100075 ORPHA:79076 ORPHA:853 ORPHA:652 OMIM:187300 OMIM:276700 ORPHA:98870 OMIM:158310 OMIM:301000

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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