Human Phenotype Ontology 
Grandparent Node:
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Functional abnormality of the gastrointestinal tract (HP:0012719)help
Grandparent Node:
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Internal hemorrhage (HP:0011029)help
Parent Node:
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Gastrointestinal hemorrhage (HP:0002239)help
..Starting node
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Hematemesis (HP:0002248)help
Term ID: 2248
Name: Hematemesis
Synonym: Vomitting blood
Definition: The vomiting of blood.
Comments:
Reference: HP:0002248
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHematochezia (HP:0002573) help
..expandIntestinal bleeding (HP:0002584) help
..expandMelena (HP:0002249) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002248HP:0002248Hematemesis0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0002248HP:0002248Hematemesis0ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomachHP:0040283 - Occasional169
HP:0002248HP:0002248Hematemesis0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0002248HP:0002248Hematemesis0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0002248HP:0002248Hematemesis0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0002248HP:0002248Hematemesis0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0002248HP:0002248Hematemesis0DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomachHP:0040283 - Occasional
HP:0002248HP:0002248Hematemesis0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1.186
HP:0002248HP:0002248Hematemesis0FGA CL E G H22433661OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included47
HP:0002248HP:0002248Hematemesis0FGB CL E G H22443662OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included62
HP:0002248HP:0002248Hematemesis0FGG CL E G H22663694OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included34
HP:0002248HP:0002248Hematemesis0GP1BA CL E G H28114439ORPHA:274Bernard-Soulier syndromeHP:0040283 - Occasional23
HP:0002248HP:0002248Hematemesis0GP1BB CL E G H28124440ORPHA:274Bernard-Soulier syndromeHP:0040283 - Occasional8
HP:0002248HP:0002248Hematemesis0GP9 CL E G H28154444ORPHA:274Bernard-Soulier syndromeHP:0040283 - Occasional21
HP:0002248HP:0002248Hematemesis0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0002248HP:0002248Hematemesis0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0002248HP:0002248Hematemesis0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0002248HP:0002248Hematemesis0PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease563
HP:0002248HP:0002248Hematemesis0WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome.65
HP:0002248HP:0002248Hematemesis0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040282 - Frequent65
HP:0002248HP:0002248Hematemesis0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040282 - Frequent6


Genes (20) :ACVRL1 ATRX CDKN1A CDKN1B CDKN2B CDKN2C DAXX ENG FGA FGB FGG GP1BA GP1BB GP9 IFIH1 MED12 MEN1 PKHD1 WAS WIPF1

Diseases (11) :OMIM:600376 ORPHA:100075 ORPHA:652 OMIM:187300 OMIM:202400 ORPHA:274 OMIM:615846 OMIM:301068 OMIM:263200 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.