Human Phenotype Ontology 
Grandparent Node:
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Abnormal bleeding (HP:0001892)help
Grandparent Node:
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Abnormality of blood circulation (HP:0011028)help
Parent Node:
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Functional abnormality of the gastrointestinal tract (HP:0012719)help
Parent Node:
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Internal hemorrhage (HP:0011029)help
..Starting node
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Gastrointestinal hemorrhage (HP:0002239)help
Term ID: 2239
Name: Gastrointestinal hemorrhage
Synonym: Gastrointestinal bleeding; Gastrointestinal haemorrhage; GI haemorrhage; GI hemorrhage
Definition: Hemorrhage affecting the gastrointestinal tract.
Comments:
Reference: HP:0002239
Genes and Diseases:
 
       Child Nodes:
........expandHematemesis (HP:0002248) help
........expandMelena (HP:0002249) help
........expandHematochezia (HP:0002573) help
........expandIntestinal bleeding (HP:0002584) help
................... HP:0012849 Small intestinal bleeding

 Sister Nodes: 
..expandAntepartum hemorrhage (HP:0025328) help
..expandHemorrhage of the eye (HP:0011885) help
..expandIntracranial hemorrhage (HP:0002170) help
..expandJoint hemorrhage (HP:0005261) help
..expandMuscle hemorrhage (HP:0040242) help
..expandPulmonary hemorrhage (HP:0040223) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002239HP:0002239Gastrointestinal hemorrhage0ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM1166657603234
HP:0002239HP:0002239Gastrointestinal hemorrhage0ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1166657603234
HP:0002239HP:0002239Gastrointestinal hemorrhage0AGGF1 CL E G H5510990308ORPHA14824684608464
HP:0002239HP:0002239Gastrointestinal hemorrhage0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0002239HP:0002239Gastrointestinal hemorrhage0B2M CL E G H567314652ORPHA160914109700
HP:0002239HP:0002239Gastrointestinal hemorrhage0C4A CL E G H720117ORPHA1531323120810
HP:0002239HP:0002239Gastrointestinal hemorrhage0CCR1 CL E G H1230117ORPHA1311602601159
HP:0002239HP:0002239Gastrointestinal hemorrhage0CYP7B1 CL E G H942079302ORPHA14152652603711
HP:0002239HP:0002239Gastrointestinal hemorrhage0EPCAM CL E G H4072144ORPHA174411529185535
HP:0002239HP:0002239Gastrointestinal hemorrhage0ERAP1 CL E G H51752117ORPHA117518173606832
HP:0002239HP:0002239Gastrointestinal hemorrhage0F2 CL E G H2147613679Prothrombin deficiency, congenital613679C0020640OMIM11653535176930
HP:0002239HP:0002239Gastrointestinal hemorrhage0F7 CL E G H2155327ORPHA13433544613878
HP:0002239HP:0002239Gastrointestinal hemorrhage0F9 CL E G H2158306900Hereditary factor IX deficiency disease306900C0008533OMIM16463551300746
HP:0002239HP:0002239Gastrointestinal hemorrhage0FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM16013579613871
HP:0002239HP:0002239Gastrointestinal hemorrhage0FAN1 CL E G H22909144ORPHA148229170613534
HP:0002239HP:0002239Gastrointestinal hemorrhage0FAS CL E G H355117ORPHA138711920134637
HP:0002239HP:0002239Gastrointestinal hemorrhage0FGA CL E G H2243101041ORPHA12083661134820
HP:0002239HP:0002239Gastrointestinal hemorrhage0FGA CL E G H224398881ORPHA12083661134820
HP:0002239HP:0002239Gastrointestinal hemorrhage0FGB CL E G H2244101041ORPHA11943662134830
HP:0002239HP:0002239Gastrointestinal hemorrhage0FGB CL E G H224498881ORPHA11943662134830
HP:0002239HP:0002239Gastrointestinal hemorrhage0FGG CL E G H2266101041ORPHA11433694134850
HP:0002239HP:0002239Gastrointestinal hemorrhage0FGG CL E G H226698881ORPHA11433694134850
HP:0002239HP:0002239Gastrointestinal hemorrhage0GFI1B CL E G H8328187900Platelet-type bleeding disorder 17187900C1861194OMIM11234238604383
HP:0002239HP:0002239Gastrointestinal hemorrhage0GP1BA CL E G H2811231200Bernard Soulier syndrome231200C0005129OMIM11804439606672
HP:0002239HP:0002239Gastrointestinal hemorrhage0GP1BB CL E G H2812231200Bernard Soulier syndrome231200C0005129OMIM14794440138720
HP:0002239HP:0002239Gastrointestinal hemorrhage0GP9 CL E G H2815231200Bernard Soulier syndrome231200C0005129OMIM11134444173515
HP:0002239HP:0002239Gastrointestinal hemorrhage0HLA-B CL E G H3106117ORPHA1294932142830
HP:0002239HP:0002239Gastrointestinal hemorrhage0HSD3B7 CL E G H8027079301ORPHA113918324607764
HP:0002239HP:0002239Gastrointestinal hemorrhage0IL10 CL E G H3586117ORPHA11235962124092
HP:0002239HP:0002239Gastrointestinal hemorrhage0IL12A CL E G H3592117ORPHA1345969161560
HP:0002239HP:0002239Gastrointestinal hemorrhage0IL12A-AS1 CL E G H101928376117ORPHA118490940
HP:0002239HP:0002239Gastrointestinal hemorrhage0IL23R CL E G H149233117ORPHA124119100607562
HP:0002239HP:0002239Gastrointestinal hemorrhage0ITGA2B CL E G H3674273800Glanzmann thrombasthenia273800C0040015OMIM15406138607759
HP:0002239HP:0002239Gastrointestinal hemorrhage0ITGB3 CL E G H3690273800Glanzmann thrombasthenia273800C0040015OMIM14696156173470
HP:0002239HP:0002239Gastrointestinal hemorrhage0JAK2 CL E G H3717263300Polycythemia vera263300C0032463OMIM14126192147796
HP:0002239HP:0002239Gastrointestinal hemorrhage0KIT CL E G H381544890ORPHA124886342164920
HP:0002239HP:0002239Gastrointestinal hemorrhage0KLRC4 CL E G H8302117ORPHA1446377602893
HP:0002239HP:0002239Gastrointestinal hemorrhage0KRAS CL E G H3845144ORPHA14806407190070
HP:0002239HP:0002239Gastrointestinal hemorrhage0LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM13576518600024
HP:0002239HP:0002239Gastrointestinal hemorrhage0MEFV CL E G H4210117ORPHA110836998608107
HP:0002239HP:0002239Gastrointestinal hemorrhage0MLH1 CL E G H4292144ORPHA151227127120436
HP:0002239HP:0002239Gastrointestinal hemorrhage0MLH3 CL E G H27030144ORPHA122107128604395
HP:0002239HP:0002239Gastrointestinal hemorrhage0MSH2 CL E G H4436144ORPHA168567325609309
HP:0002239HP:0002239Gastrointestinal hemorrhage0MSH6 CL E G H2956144ORPHA184387329600678
HP:0002239HP:0002239Gastrointestinal hemorrhage0MVK CL E G H4598343ORPHA15707530251170
HP:0002239HP:0002239Gastrointestinal hemorrhage0PDGFRA CL E G H515644890ORPHA128328803173490
HP:0002239HP:0002239Gastrointestinal hemorrhage0PIK3CA CL E G H5290144ORPHA111598975171834
HP:0002239HP:0002239Gastrointestinal hemorrhage0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0002239HP:0002239Gastrointestinal hemorrhage0PMS1 CL E G H5378144ORPHA11259121600258
HP:0002239HP:0002239Gastrointestinal hemorrhage0PMS2 CL E G H5395144ORPHA147199122600259
HP:0002239HP:0002239Gastrointestinal hemorrhage0RHBDF2 CL E G H796512198ORPHA120920788614404
HP:0002239HP:0002239Gastrointestinal hemorrhage0SDHA CL E G H638944890ORPHA1250310680600857
HP:0002239HP:0002239Gastrointestinal hemorrhage0SDHB CL E G H639044890ORPHA1124910681185470
HP:0002239HP:0002239Gastrointestinal hemorrhage0SDHB CL E G H639097286ORPHA1124910681185470
HP:0002239HP:0002239Gastrointestinal hemorrhage0SDHC CL E G H639144890ORPHA179810682602413
HP:0002239HP:0002239Gastrointestinal hemorrhage0SDHC CL E G H639197286ORPHA179810682602413
HP:0002239HP:0002239Gastrointestinal hemorrhage0SDHD CL E G H639297286ORPHA168610683602690
HP:0002239HP:0002239Gastrointestinal hemorrhage0STAT4 CL E G H6775117ORPHA130711365600558
HP:0002239HP:0002239Gastrointestinal hemorrhage0STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA1238911389602216
HP:0002239HP:0002239Gastrointestinal hemorrhage0STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0002239HP:0002239Gastrointestinal hemorrhage0TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0002239HP:0002239Gastrointestinal hemorrhage0TLR4 CL E G H7099117ORPHA18311850603030
HP:0002239HP:0002239Gastrointestinal hemorrhage0UBAC2 CL E G H337867117ORPHA1126204860
HP:0002239HP:0002239Gastrointestinal hemorrhage0VWF CL E G H7450193400von Willebrand disease type 1193400C1264039OMIM1138512726613160
HP:0002239HP:0002248Hematemesis1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM1166657603234
HP:0002239HP:0002249Melena1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM1166657603234
HP:0002239HP:0032144Coffee ground vomitus1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM1166657603234
HP:0002239HP:0002584Intestinal bleeding1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM1166657603234
HP:0002239HP:0002573Hematochezia1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM1166657603234
HP:0002239HP:0032144Coffee ground vomitus1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1166657603234
HP:0002239HP:0002584Intestinal bleeding1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1166657603234
HP:0002239HP:0002573Hematochezia1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1166657603234
HP:0002239HP:0002248Hematemesis1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1166657603234
HP:0002239HP:0002249Melena1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1166657603234
HP:0002239HP:0002584Intestinal bleeding1AGGF1 CL E G H5510990308ORPHA14824684608464
HP:0002239HP:0002573Hematochezia1AGGF1 CL E G H5510990308ORPHA14824684608464
HP:0002239HP:0002248Hematemesis1AGGF1 CL E G H5510990308ORPHA14824684608464
HP:0002239HP:0002249Melena1AGGF1 CL E G H5510990308ORPHA14824684608464
HP:0002239HP:0032144Coffee ground vomitus1AGGF1 CL E G H5510990308ORPHA14824684608464
HP:0002239HP:0032144Coffee ground vomitus1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0002239HP:0002584Intestinal bleeding1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0002239HP:0002573Hematochezia1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0002239HP:0002248Hematemesis1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0002239HP:0002249Melena1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0002239HP:0002573Hematochezia1B2M CL E G H567314652ORPHA160914109700
HP:0002239HP:0002248Hematemesis1B2M CL E G H567314652ORPHA160914109700
HP:0002239HP:0002249Melena1B2M CL E G H567314652ORPHA160914109700
HP:0002239HP:0032144Coffee ground vomitus1B2M CL E G H567314652ORPHA160914109700
HP:0002239HP:0002584Intestinal bleeding1B2M CL E G H567314652ORPHA160914109700
HP:0002239HP:0002248Hematemesis1C4A CL E G H720117ORPHA1531323120810
HP:0002239HP:0002249Melena1C4A CL E G H720117ORPHA1531323120810
HP:0002239HP:0032144Coffee ground vomitus1C4A CL E G H720117ORPHA1531323120810
HP:0002239HP:0002584Intestinal bleeding1C4A CL E G H720117ORPHA1531323120810
HP:0002239HP:0002573Hematochezia1C4A CL E G H720117ORPHA1531323120810
HP:0002239HP:0002573Hematochezia1CCR1 CL E G H1230117ORPHA1311602601159
HP:0002239HP:0002248Hematemesis1CCR1 CL E G H1230117ORPHA1311602601159
HP:0002239HP:0002249Melena1CCR1 CL E G H1230117ORPHA1311602601159
HP:0002239HP:0032144Coffee ground vomitus1CCR1 CL E G H1230117ORPHA1311602601159
HP:0002239HP:0002584Intestinal bleeding1CCR1 CL E G H1230117ORPHA1311602601159
HP:0002239HP:0002573Hematochezia1CYP7B1 CL E G H942079302ORPHA14152652603711
HP:0002239HP:0002248Hematemesis1CYP7B1 CL E G H942079302ORPHA14152652603711
HP:0002239HP:0002249Melena1CYP7B1 CL E G H942079302ORPHA14152652603711
HP:0002239HP:0032144Coffee ground vomitus1CYP7B1 CL E G H942079302ORPHA14152652603711
HP:0002239HP:0002584Intestinal bleeding1CYP7B1 CL E G H942079302ORPHA14152652603711
HP:0002239HP:0002248Hematemesis1EPCAM CL E G H4072144ORPHA174411529185535
HP:0002239HP:0002249Melena1EPCAM CL E G H4072144ORPHA174411529185535
HP:0002239HP:0032144Coffee ground vomitus1EPCAM CL E G H4072144ORPHA174411529185535
HP:0002239HP:0002584Intestinal bleeding1EPCAM CL E G H4072144ORPHA174411529185535
HP:0002239HP:0002573Hematochezia1EPCAM CL E G H4072144ORPHA174411529185535
HP:0002239HP:0002584Intestinal bleeding1ERAP1 CL E G H51752117ORPHA117518173606832
HP:0002239HP:0002573Hematochezia1ERAP1 CL E G H51752117ORPHA117518173606832
HP:0002239HP:0002248Hematemesis1ERAP1 CL E G H51752117ORPHA117518173606832
HP:0002239HP:0002249Melena1ERAP1 CL E G H51752117ORPHA117518173606832
HP:0002239HP:0032144Coffee ground vomitus1ERAP1 CL E G H51752117ORPHA117518173606832
HP:0002239HP:0002584Intestinal bleeding1F2 CL E G H2147613679Prothrombin deficiency, congenital613679C0020640OMIM11653535176930
HP:0002239HP:0002573Hematochezia1F2 CL E G H2147613679Prothrombin deficiency, congenital613679C0020640OMIM11653535176930
HP:0002239HP:0002248Hematemesis1F2 CL E G H2147613679Prothrombin deficiency, congenital613679C0020640OMIM11653535176930
HP:0002239HP:0002249Melena1F2 CL E G H2147613679Prothrombin deficiency, congenital613679C0020640OMIM11653535176930
HP:0002239HP:0032144Coffee ground vomitus1F2 CL E G H2147613679Prothrombin deficiency, congenital613679C0020640OMIM11653535176930
HP:0002239HP:0002248Hematemesis1F7 CL E G H2155327ORPHA13433544613878
HP:0002239HP:0002249Melena1F7 CL E G H2155327ORPHA13433544613878
HP:0002239HP:0032144Coffee ground vomitus1F7 CL E G H2155327ORPHA13433544613878
HP:0002239HP:0002584Intestinal bleeding1F7 CL E G H2155327ORPHA13433544613878
HP:0002239HP:0002573Hematochezia1F7 CL E G H2155327ORPHA13433544613878
HP:0002239HP:0002248Hematemesis1F9 CL E G H2158306900Hereditary factor IX deficiency disease306900C0008533OMIM16463551300746
HP:0002239HP:0002249Melena1F9 CL E G H2158306900Hereditary factor IX deficiency disease306900C0008533OMIM16463551300746
HP:0002239HP:0032144Coffee ground vomitus1F9 CL E G H2158306900Hereditary factor IX deficiency disease306900C0008533OMIM16463551300746
HP:0002239HP:0002584Intestinal bleeding1F9 CL E G H2158306900Hereditary factor IX deficiency disease306900C0008533OMIM16463551300746
HP:0002239HP:0002573Hematochezia1F9 CL E G H2158306900Hereditary factor IX deficiency disease306900C0008533OMIM16463551300746
HP:0002239HP:0032144Coffee ground vomitus1FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM16013579613871
HP:0002239HP:0002584Intestinal bleeding1FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM16013579613871
HP:0002239HP:0002573Hematochezia1FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM16013579613871
HP:0002239HP:0002248Hematemesis1FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM16013579613871
HP:0002239HP:0002249Melena1FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM16013579613871
HP:0002239HP:0002573Hematochezia1FAN1 CL E G H22909144ORPHA148229170613534
HP:0002239HP:0002248Hematemesis1FAN1 CL E G H22909144ORPHA148229170613534
HP:0002239HP:0002249Melena1FAN1 CL E G H22909144ORPHA148229170613534
HP:0002239HP:0032144Coffee ground vomitus1FAN1 CL E G H22909144ORPHA148229170613534
HP:0002239HP:0002584Intestinal bleeding1FAN1 CL E G H22909144ORPHA148229170613534
HP:0002239HP:0032144Coffee ground vomitus1FAS CL E G H355117ORPHA138711920134637
HP:0002239HP:0002584Intestinal bleeding1FAS CL E G H355117ORPHA138711920134637
HP:0002239HP:0002573Hematochezia1FAS CL E G H355117ORPHA138711920134637
HP:0002239HP:0002248Hematemesis1FAS CL E G H355117ORPHA138711920134637
HP:0002239HP:0002249Melena1FAS CL E G H355117ORPHA138711920134637
HP:0002239HP:0002584Intestinal bleeding1FGA CL E G H224398881ORPHA12083661134820
HP:0002239HP:0002573Hematochezia1FGA CL E G H2243101041ORPHA12083661134820
HP:0002239HP:0002573Hematochezia1FGA CL E G H224398881ORPHA12083661134820
HP:0002239HP:0002248Hematemesis1FGA CL E G H2243101041ORPHA12083661134820
HP:0002239HP:0002249Melena1FGA CL E G H2243101041ORPHA12083661134820
HP:0002239HP:0002248Hematemesis1FGA CL E G H224398881ORPHA12083661134820
HP:0002239HP:0032144Coffee ground vomitus1FGA CL E G H2243101041ORPHA12083661134820
HP:0002239HP:0002249Melena1FGA CL E G H224398881ORPHA12083661134820
HP:0002239HP:0002584Intestinal bleeding1FGA CL E G H2243101041ORPHA12083661134820
HP:0002239HP:0032144Coffee ground vomitus1FGA CL E G H224398881ORPHA12083661134820
HP:0002239HP:0032144Coffee ground vomitus1FGB CL E G H224498881ORPHA11943662134830
HP:0002239HP:0002584Intestinal bleeding1FGB CL E G H2244101041ORPHA11943662134830
HP:0002239HP:0002584Intestinal bleeding1FGB CL E G H224498881ORPHA11943662134830
HP:0002239HP:0002573Hematochezia1FGB CL E G H2244101041ORPHA11943662134830
HP:0002239HP:0002573Hematochezia1FGB CL E G H224498881ORPHA11943662134830
HP:0002239HP:0002248Hematemesis1FGB CL E G H2244101041ORPHA11943662134830
HP:0002239HP:0002249Melena1FGB CL E G H2244101041ORPHA11943662134830
HP:0002239HP:0002248Hematemesis1FGB CL E G H224498881ORPHA11943662134830
HP:0002239HP:0032144Coffee ground vomitus1FGB CL E G H2244101041ORPHA11943662134830
HP:0002239HP:0002249Melena1FGB CL E G H224498881ORPHA11943662134830
HP:0002239HP:0002248Hematemesis1FGG CL E G H226698881ORPHA11433694134850
HP:0002239HP:0032144Coffee ground vomitus1FGG CL E G H2266101041ORPHA11433694134850
HP:0002239HP:0002249Melena1FGG CL E G H226698881ORPHA11433694134850
HP:0002239HP:0002584Intestinal bleeding1FGG CL E G H2266101041ORPHA11433694134850
HP:0002239HP:0032144Coffee ground vomitus1FGG CL E G H226698881ORPHA11433694134850
HP:0002239HP:0002584Intestinal bleeding1FGG CL E G H226698881ORPHA11433694134850
HP:0002239HP:0002573Hematochezia1FGG CL E G H2266101041ORPHA11433694134850
HP:0002239HP:0002249Melena1FGG CL E G H2266101041ORPHA11433694134850
HP:0002239HP:0002573Hematochezia1FGG CL E G H226698881ORPHA11433694134850
HP:0002239HP:0002248Hematemesis1FGG CL E G H2266101041ORPHA11433694134850
HP:0002239HP:0002249Melena1GFI1B CL E G H8328187900Platelet-type bleeding disorder 17187900C1861194OMIM11234238604383
HP:0002239HP:0002248Hematemesis1GFI1B CL E G H8328187900Platelet-type bleeding disorder 17187900C1861194OMIM11234238604383
HP:0002239HP:0032144Coffee ground vomitus1GFI1B CL E G H8328187900Platelet-type bleeding disorder 17187900C1861194OMIM11234238604383
HP:0002239HP:0002584Intestinal bleeding1GFI1B CL E G H8328187900Platelet-type bleeding disorder 17187900C1861194OMIM11234238604383
HP:0002239HP:0002573Hematochezia1GFI1B CL E G H8328187900Platelet-type bleeding disorder 17187900C1861194OMIM11234238604383
HP:0002239HP:0002248Hematemesis1GP1BA CL E G H2811231200Bernard Soulier syndrome231200C0005129OMIM11804439606672
HP:0002239HP:0002249Melena1GP1BA CL E G H2811231200Bernard Soulier syndrome231200C0005129OMIM11804439606672
HP:0002239HP:0032144Coffee ground vomitus1GP1BA CL E G H2811231200Bernard Soulier syndrome231200C0005129OMIM11804439606672
HP:0002239HP:0002584Intestinal bleeding1GP1BA CL E G H2811231200Bernard Soulier syndrome231200C0005129OMIM11804439606672
HP:0002239HP:0002573Hematochezia1GP1BA CL E G H2811231200Bernard Soulier syndrome231200C0005129OMIM11804439606672
HP:0002239HP:0002573Hematochezia1GP1BB CL E G H2812231200Bernard Soulier syndrome231200C0005129OMIM14794440138720
HP:0002239HP:0002249Melena1GP1BB CL E G H2812231200Bernard Soulier syndrome231200C0005129OMIM14794440138720
HP:0002239HP:0002248Hematemesis1GP1BB CL E G H2812231200Bernard Soulier syndrome231200C0005129OMIM14794440138720
HP:0002239HP:0032144Coffee ground vomitus1GP1BB CL E G H2812231200Bernard Soulier syndrome231200C0005129OMIM14794440138720
HP:0002239HP:0002584Intestinal bleeding1GP1BB CL E G H2812231200Bernard Soulier syndrome231200C0005129OMIM14794440138720
HP:0002239HP:0002584Intestinal bleeding1GP9 CL E G H2815231200Bernard Soulier syndrome231200C0005129OMIM11134444173515
HP:0002239HP:0002573Hematochezia1GP9 CL E G H2815231200Bernard Soulier syndrome231200C0005129OMIM11134444173515
HP:0002239HP:0002248Hematemesis1GP9 CL E G H2815231200Bernard Soulier syndrome231200C0005129OMIM11134444173515
HP:0002239HP:0002249Melena1GP9 CL E G H2815231200Bernard Soulier syndrome231200C0005129OMIM11134444173515
HP:0002239HP:0032144Coffee ground vomitus1GP9 CL E G H2815231200Bernard Soulier syndrome231200C0005129OMIM11134444173515
HP:0002239HP:0002248Hematemesis1HLA-B CL E G H3106117ORPHA1294932142830
HP:0002239HP:0002249Melena1HLA-B CL E G H3106117ORPHA1294932142830
HP:0002239HP:0032144Coffee ground vomitus1HLA-B CL E G H3106117ORPHA1294932142830
HP:0002239HP:0002584Intestinal bleeding1HLA-B CL E G H3106117ORPHA1294932142830
HP:0002239HP:0002573Hematochezia1HLA-B CL E G H3106117ORPHA1294932142830
HP:0002239HP:0002248Hematemesis1HSD3B7 CL E G H8027079301ORPHA113918324607764
HP:0002239HP:0002249Melena1HSD3B7 CL E G H8027079301ORPHA113918324607764
HP:0002239HP:0032144Coffee ground vomitus1HSD3B7 CL E G H8027079301ORPHA113918324607764
HP:0002239HP:0002584Intestinal bleeding1HSD3B7 CL E G H8027079301ORPHA113918324607764
HP:0002239HP:0002573Hematochezia1HSD3B7 CL E G H8027079301ORPHA113918324607764
HP:0002239HP:0002573Hematochezia1IL10 CL E G H3586117ORPHA11235962124092
HP:0002239HP:0002249Melena1IL10 CL E G H3586117ORPHA11235962124092
HP:0002239HP:0002248Hematemesis1IL10 CL E G H3586117ORPHA11235962124092
HP:0002239HP:0032144Coffee ground vomitus1IL10 CL E G H3586117ORPHA11235962124092
HP:0002239HP:0002584Intestinal bleeding1IL10 CL E G H3586117ORPHA11235962124092
HP:0002239HP:0002584Intestinal bleeding1IL12A CL E G H3592117ORPHA1345969161560
HP:0002239HP:0002573Hematochezia1IL12A CL E G H3592117ORPHA1345969161560
HP:0002239HP:0002248Hematemesis1IL12A CL E G H3592117ORPHA1345969161560
HP:0002239HP:0002249Melena1IL12A CL E G H3592117ORPHA1345969161560
HP:0002239HP:0032144Coffee ground vomitus1IL12A CL E G H3592117ORPHA1345969161560
HP:0002239HP:0032144Coffee ground vomitus1IL12A-AS1 CL E G H101928376117ORPHA118490940
HP:0002239HP:0002584Intestinal bleeding1IL12A-AS1 CL E G H101928376117ORPHA118490940
HP:0002239HP:0002573Hematochezia1IL12A-AS1 CL E G H101928376117ORPHA118490940
HP:0002239HP:0002248Hematemesis1IL12A-AS1 CL E G H101928376117ORPHA118490940
HP:0002239HP:0002249Melena1IL12A-AS1 CL E G H101928376117ORPHA118490940
HP:0002239HP:0002248Hematemesis1IL23R CL E G H149233117ORPHA124119100607562
HP:0002239HP:0002249Melena1IL23R CL E G H149233117ORPHA124119100607562
HP:0002239HP:0032144Coffee ground vomitus1IL23R CL E G H149233117ORPHA124119100607562
HP:0002239HP:0002584Intestinal bleeding1IL23R CL E G H149233117ORPHA124119100607562
HP:0002239HP:0002573Hematochezia1IL23R CL E G H149233117ORPHA124119100607562
HP:0002239HP:0002573Hematochezia1ITGA2B CL E G H3674273800Glanzmann thrombasthenia273800C0040015OMIM15406138607759
HP:0002239HP:0002248Hematemesis1ITGA2B CL E G H3674273800Glanzmann thrombasthenia273800C0040015OMIM15406138607759
HP:0002239HP:0002249Melena1ITGA2B CL E G H3674273800Glanzmann thrombasthenia273800C0040015OMIM15406138607759
HP:0002239HP:0032144Coffee ground vomitus1ITGA2B CL E G H3674273800Glanzmann thrombasthenia273800C0040015OMIM15406138607759
HP:0002239HP:0002584Intestinal bleeding1ITGA2B CL E G H3674273800Glanzmann thrombasthenia273800C0040015OMIM15406138607759
HP:0002239HP:0002584Intestinal bleeding1ITGB3 CL E G H3690273800Glanzmann thrombasthenia273800C0040015OMIM14696156173470
HP:0002239HP:0002573Hematochezia1ITGB3 CL E G H3690273800Glanzmann thrombasthenia273800C0040015OMIM14696156173470
HP:0002239HP:0002248Hematemesis1ITGB3 CL E G H3690273800Glanzmann thrombasthenia273800C0040015OMIM14696156173470
HP:0002239HP:0002249Melena1ITGB3 CL E G H3690273800Glanzmann thrombasthenia273800C0040015OMIM14696156173470
HP:0002239HP:0032144Coffee ground vomitus1ITGB3 CL E G H3690273800Glanzmann thrombasthenia273800C0040015OMIM14696156173470
HP:0002239HP:0032144Coffee ground vomitus1JAK2 CL E G H3717263300Polycythemia vera263300C0032463OMIM14126192147796
HP:0002239HP:0002584Intestinal bleeding1JAK2 CL E G H3717263300Polycythemia vera263300C0032463OMIM14126192147796
HP:0002239HP:0002573Hematochezia1JAK2 CL E G H3717263300Polycythemia vera263300C0032463OMIM14126192147796
HP:0002239HP:0002248Hematemesis1JAK2 CL E G H3717263300Polycythemia vera263300C0032463OMIM14126192147796
HP:0002239HP:0002249Melena1JAK2 CL E G H3717263300Polycythemia vera263300C0032463OMIM14126192147796
HP:0002239HP:0032144Coffee ground vomitus1KIT CL E G H381544890ORPHA124886342164920
HP:0002239HP:0002584Intestinal bleeding1KIT CL E G H381544890ORPHA124886342164920
HP:0002239HP:0002573Hematochezia1KIT CL E G H381544890ORPHA124886342164920
HP:0002239HP:0002249Melena1KIT CL E G H381544890ORPHA124886342164920
HP:0002239HP:0002248Hematemesis1KIT CL E G H381544890ORPHA124886342164920
HP:0002239HP:0002573Hematochezia1KLRC4 CL E G H8302117ORPHA1446377602893
HP:0002239HP:0002248Hematemesis1KLRC4 CL E G H8302117ORPHA1446377602893
HP:0002239HP:0002249Melena1KLRC4 CL E G H8302117ORPHA1446377602893
HP:0002239HP:0032144Coffee ground vomitus1KLRC4 CL E G H8302117ORPHA1446377602893
HP:0002239HP:0002584Intestinal bleeding1KLRC4 CL E G H8302117ORPHA1446377602893
HP:0002239HP:0002584Intestinal bleeding1KRAS CL E G H3845144ORPHA14806407190070
HP:0002239HP:0002573Hematochezia1KRAS CL E G H3845144ORPHA14806407190070
HP:0002239HP:0002248Hematemesis1KRAS CL E G H3845144ORPHA14806407190070
HP:0002239HP:0002249Melena1KRAS CL E G H3845144ORPHA14806407190070
HP:0002239HP:0032144Coffee ground vomitus1KRAS CL E G H3845144ORPHA14806407190070
HP:0002239HP:0002573Hematochezia1LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM13576518600024
HP:0002239HP:0002249Melena1LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM13576518600024
HP:0002239HP:0002248Hematemesis1LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM13576518600024
HP:0002239HP:0032144Coffee ground vomitus1LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM13576518600024
HP:0002239HP:0002584Intestinal bleeding1LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM13576518600024
HP:0002239HP:0002584Intestinal bleeding1MEFV CL E G H4210117ORPHA110836998608107
HP:0002239HP:0002573Hematochezia1MEFV CL E G H4210117ORPHA110836998608107
HP:0002239HP:0002248Hematemesis1MEFV CL E G H4210117ORPHA110836998608107
HP:0002239HP:0002249Melena1MEFV CL E G H4210117ORPHA110836998608107
HP:0002239HP:0032144Coffee ground vomitus1MEFV CL E G H4210117ORPHA110836998608107
HP:0002239HP:0032144Coffee ground vomitus1MLH1 CL E G H4292144ORPHA151227127120436
HP:0002239HP:0002584Intestinal bleeding1MLH1 CL E G H4292144ORPHA151227127120436
HP:0002239HP:0002573Hematochezia1MLH1 CL E G H4292144ORPHA151227127120436
HP:0002239HP:0002248Hematemesis1MLH1 CL E G H4292144ORPHA151227127120436
HP:0002239HP:0002249Melena1MLH1 CL E G H4292144ORPHA151227127120436
HP:0002239HP:0002248Hematemesis1MLH3 CL E G H27030144ORPHA122107128604395
HP:0002239HP:0002249Melena1MLH3 CL E G H27030144ORPHA122107128604395
HP:0002239HP:0032144Coffee ground vomitus1MLH3 CL E G H27030144ORPHA122107128604395
HP:0002239HP:0002584Intestinal bleeding1MLH3 CL E G H27030144ORPHA122107128604395
HP:0002239HP:0002573Hematochezia1MLH3 CL E G H27030144ORPHA122107128604395
HP:0002239HP:0002573Hematochezia1MSH2 CL E G H4436144ORPHA168567325609309
HP:0002239HP:0002249Melena1MSH2 CL E G H4436144ORPHA168567325609309
HP:0002239HP:0002248Hematemesis1MSH2 CL E G H4436144ORPHA168567325609309
HP:0002239HP:0032144Coffee ground vomitus1MSH2 CL E G H4436144ORPHA168567325609309
HP:0002239HP:0002584Intestinal bleeding1MSH2 CL E G H4436144ORPHA168567325609309
HP:0002239HP:0002584Intestinal bleeding1MSH6 CL E G H2956144ORPHA184387329600678
HP:0002239HP:0002573Hematochezia1MSH6 CL E G H2956144ORPHA184387329600678
HP:0002239HP:0002248Hematemesis1MSH6 CL E G H2956144ORPHA184387329600678
HP:0002239HP:0002249Melena1MSH6 CL E G H2956144ORPHA184387329600678
HP:0002239HP:0032144Coffee ground vomitus1MSH6 CL E G H2956144ORPHA184387329600678
HP:0002239HP:0002584Intestinal bleeding1MVK CL E G H4598343ORPHA15707530251170
HP:0002239HP:0002573Hematochezia1MVK CL E G H4598343ORPHA15707530251170
HP:0002239HP:0002248Hematemesis1MVK CL E G H4598343ORPHA15707530251170
HP:0002239HP:0002249Melena1MVK CL E G H4598343ORPHA15707530251170
HP:0002239HP:0032144Coffee ground vomitus1MVK CL E G H4598343ORPHA15707530251170
HP:0002239HP:0002248Hematemesis1PDGFRA CL E G H515644890ORPHA128328803173490
HP:0002239HP:0002249Melena1PDGFRA CL E G H515644890ORPHA128328803173490
HP:0002239HP:0032144Coffee ground vomitus1PDGFRA CL E G H515644890ORPHA128328803173490
HP:0002239HP:0002584Intestinal bleeding1PDGFRA CL E G H515644890ORPHA128328803173490
HP:0002239HP:0002573Hematochezia1PDGFRA CL E G H515644890ORPHA128328803173490
HP:0002239HP:0032144Coffee ground vomitus1PIK3CA CL E G H5290144ORPHA111598975171834
HP:0002239HP:0002584Intestinal bleeding1PIK3CA CL E G H5290144ORPHA111598975171834
HP:0002239HP:0002573Hematochezia1PIK3CA CL E G H5290144ORPHA111598975171834
HP:0002239HP:0002248Hematemesis1PIK3CA CL E G H5290144ORPHA111598975171834
HP:0002239HP:0002249Melena1PIK3CA CL E G H5290144ORPHA111598975171834
HP:0002239HP:0002584Intestinal bleeding1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0002239HP:0002573Hematochezia1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0002239HP:0002248Hematemesis1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0002239HP:0002249Melena1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0002239HP:0032144Coffee ground vomitus1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0002239HP:0002248Hematemesis1PMS1 CL E G H5378144ORPHA11259121600258
HP:0002239HP:0002249Melena1PMS1 CL E G H5378144ORPHA11259121600258
HP:0002239HP:0032144Coffee ground vomitus1PMS1 CL E G H5378144ORPHA11259121600258
HP:0002239HP:0002584Intestinal bleeding1PMS1 CL E G H5378144ORPHA11259121600258
HP:0002239HP:0002573Hematochezia1PMS1 CL E G H5378144ORPHA11259121600258
HP:0002239HP:0002573Hematochezia1PMS2 CL E G H5395144ORPHA147199122600259
HP:0002239HP:0002248Hematemesis1PMS2 CL E G H5395144ORPHA147199122600259
HP:0002239HP:0002249Melena1PMS2 CL E G H5395144ORPHA147199122600259
HP:0002239HP:0032144Coffee ground vomitus1PMS2 CL E G H5395144ORPHA147199122600259
HP:0002239HP:0002584Intestinal bleeding1PMS2 CL E G H5395144ORPHA147199122600259
HP:0002239HP:0002584Intestinal bleeding1RHBDF2 CL E G H796512198ORPHA120920788614404
HP:0002239HP:0002573Hematochezia1RHBDF2 CL E G H796512198ORPHA120920788614404
HP:0002239HP:0002249Melena1RHBDF2 CL E G H796512198ORPHA120920788614404
HP:0002239HP:0002248Hematemesis1RHBDF2 CL E G H796512198ORPHA120920788614404
HP:0002239HP:0032144Coffee ground vomitus1RHBDF2 CL E G H796512198ORPHA120920788614404
HP:0002239HP:0002573Hematochezia1SDHA CL E G H638944890ORPHA1250310680600857
HP:0002239HP:0002248Hematemesis1SDHA CL E G H638944890ORPHA1250310680600857
HP:0002239HP:0002249Melena1SDHA CL E G H638944890ORPHA1250310680600857
HP:0002239HP:0032144Coffee ground vomitus1SDHA CL E G H638944890ORPHA1250310680600857
HP:0002239HP:0002584Intestinal bleeding1SDHA CL E G H638944890ORPHA1250310680600857
HP:0002239HP:0002584Intestinal bleeding1SDHB CL E G H639044890ORPHA1124910681185470
HP:0002239HP:0032144Coffee ground vomitus1SDHB CL E G H639097286ORPHA1124910681185470
HP:0002239HP:0002584Intestinal bleeding1SDHB CL E G H639097286ORPHA1124910681185470
HP:0002239HP:0002573Hematochezia1SDHB CL E G H639044890ORPHA1124910681185470
HP:0002239HP:0002248Hematemesis1SDHB CL E G H639044890ORPHA1124910681185470
HP:0002239HP:0002249Melena1SDHB CL E G H639044890ORPHA1124910681185470
HP:0002239HP:0002573Hematochezia1SDHB CL E G H639097286ORPHA1124910681185470
HP:0002239HP:0002249Melena1SDHB CL E G H639097286ORPHA1124910681185470
HP:0002239HP:0002248Hematemesis1SDHB CL E G H639097286ORPHA1124910681185470
HP:0002239HP:0032144Coffee ground vomitus1SDHB CL E G H639044890ORPHA1124910681185470
HP:0002239HP:0002248Hematemesis1SDHC CL E G H639197286ORPHA179810682602413
HP:0002239HP:0032144Coffee ground vomitus1SDHC CL E G H639144890ORPHA179810682602413
HP:0002239HP:0002249Melena1SDHC CL E G H639197286ORPHA179810682602413
HP:0002239HP:0032144Coffee ground vomitus1SDHC CL E G H639197286ORPHA179810682602413
HP:0002239HP:0002584Intestinal bleeding1SDHC CL E G H639144890ORPHA179810682602413
HP:0002239HP:0002584Intestinal bleeding1SDHC CL E G H639197286ORPHA179810682602413
HP:0002239HP:0002573Hematochezia1SDHC CL E G H639144890ORPHA179810682602413
HP:0002239HP:0002573Hematochezia1SDHC CL E G H639197286ORPHA179810682602413
HP:0002239HP:0002248Hematemesis1SDHC CL E G H639144890ORPHA179810682602413
HP:0002239HP:0002249Melena1SDHC CL E G H639144890ORPHA179810682602413
HP:0002239HP:0002573Hematochezia1SDHD CL E G H639297286ORPHA168610683602690
HP:0002239HP:0002248Hematemesis1SDHD CL E G H639297286ORPHA168610683602690
HP:0002239HP:0002249Melena1SDHD CL E G H639297286ORPHA168610683602690
HP:0002239HP:0032144Coffee ground vomitus1SDHD CL E G H639297286ORPHA168610683602690
HP:0002239HP:0002584Intestinal bleeding1SDHD CL E G H639297286ORPHA168610683602690
HP:0002239HP:0032144Coffee ground vomitus1STAT4 CL E G H6775117ORPHA130711365600558
HP:0002239HP:0002584Intestinal bleeding1STAT4 CL E G H6775117ORPHA130711365600558
HP:0002239HP:0002573Hematochezia1STAT4 CL E G H6775117ORPHA130711365600558
HP:0002239HP:0002248Hematemesis1STAT4 CL E G H6775117ORPHA130711365600558
HP:0002239HP:0002249Melena1STAT4 CL E G H6775117ORPHA130711365600558
HP:0002239HP:0002573Hematochezia1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA1238911389602216
HP:0002239HP:0002248Hematemesis1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA1238911389602216
HP:0002239HP:0002249Melena1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA1238911389602216
HP:0002239HP:0032144Coffee ground vomitus1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA1238911389602216
HP:0002239HP:0002584Intestinal bleeding1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA1238911389602216
HP:0002239HP:0032144Coffee ground vomitus1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0002239HP:0002584Intestinal bleeding1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0002239HP:0002573Hematochezia1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0002239HP:0002248Hematemesis1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0002239HP:0002249Melena1STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0002239HP:0002584Intestinal bleeding1TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0002239HP:0002573Hematochezia1TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0002239HP:0002249Melena1TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0002239HP:0002248Hematemesis1TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0002239HP:0032144Coffee ground vomitus1TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0002239HP:0002248Hematemesis1TLR4 CL E G H7099117ORPHA18311850603030
HP:0002239HP:0002249Melena1TLR4 CL E G H7099117ORPHA18311850603030
HP:0002239HP:0032144Coffee ground vomitus1TLR4 CL E G H7099117ORPHA18311850603030
HP:0002239HP:0002584Intestinal bleeding1TLR4 CL E G H7099117ORPHA18311850603030
HP:0002239HP:0002573Hematochezia1TLR4 CL E G H7099117ORPHA18311850603030
HP:0002239HP:0002573Hematochezia1UBAC2 CL E G H337867117ORPHA1126204860
HP:0002239HP:0002249Melena1UBAC2 CL E G H337867117ORPHA1126204860
HP:0002239HP:0002248Hematemesis1UBAC2 CL E G H337867117ORPHA1126204860
HP:0002239HP:0032144Coffee ground vomitus1UBAC2 CL E G H337867117ORPHA1126204860
HP:0002239HP:0002584Intestinal bleeding1UBAC2 CL E G H337867117ORPHA1126204860
HP:0002239HP:0002573Hematochezia1VWF CL E G H7450193400von Willebrand disease type 1193400C1264039OMIM1138512726613160
HP:0002239HP:0002248Hematemesis1VWF CL E G H7450193400von Willebrand disease type 1193400C1264039OMIM1138512726613160
HP:0002239HP:0002249Melena1VWF CL E G H7450193400von Willebrand disease type 1193400C1264039OMIM1138512726613160
HP:0002239HP:0032144Coffee ground vomitus1VWF CL E G H7450193400von Willebrand disease type 1193400C1264039OMIM1138512726613160
HP:0002239HP:0002584Intestinal bleeding1VWF CL E G H7450193400von Willebrand disease type 1193400C1264039OMIM1138512726613160
HP:0002239HP:0012849Small intestinal bleeding2ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM1166657603234
HP:0002239HP:0012849Small intestinal bleeding2ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1166657603234
HP:0002239HP:0012849Small intestinal bleeding2AGGF1 CL E G H5510990308ORPHA14824684608464
HP:0002239HP:0012849Small intestinal bleeding2ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM1438417612724
HP:0002239HP:0012849Small intestinal bleeding2B2M CL E G H567314652ORPHA160914109700
HP:0002239HP:0012849Small intestinal bleeding2C4A CL E G H720117ORPHA1531323120810
HP:0002239HP:0012849Small intestinal bleeding2CCR1 CL E G H1230117ORPHA1311602601159
HP:0002239HP:0012849Small intestinal bleeding2CYP7B1 CL E G H942079302ORPHA14152652603711
HP:0002239HP:0012849Small intestinal bleeding2EPCAM CL E G H4072144ORPHA174411529185535
HP:0002239HP:0012849Small intestinal bleeding2ERAP1 CL E G H51752117ORPHA117518173606832
HP:0002239HP:0012849Small intestinal bleeding2F2 CL E G H2147613679Prothrombin deficiency, congenital613679C0020640OMIM11653535176930
HP:0002239HP:0012849Small intestinal bleeding2F7 CL E G H2155327ORPHA13433544613878
HP:0002239HP:0012849Small intestinal bleeding2F9 CL E G H2158306900Hereditary factor IX deficiency disease306900C0008533OMIM16463551300746
HP:0002239HP:0012849Small intestinal bleeding2FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM16013579613871
HP:0002239HP:0012849Small intestinal bleeding2FAN1 CL E G H22909144ORPHA148229170613534
HP:0002239HP:0012849Small intestinal bleeding2FAS CL E G H355117ORPHA138711920134637
HP:0002239HP:0012849Small intestinal bleeding2FGA CL E G H2243101041ORPHA12083661134820
HP:0002239HP:0012849Small intestinal bleeding2FGA CL E G H224398881ORPHA12083661134820
HP:0002239HP:0012849Small intestinal bleeding2FGB CL E G H224498881ORPHA11943662134830
HP:0002239HP:0012849Small intestinal bleeding2FGB CL E G H2244101041ORPHA11943662134830
HP:0002239HP:0012849Small intestinal bleeding2FGG CL E G H2266101041ORPHA11433694134850
HP:0002239HP:0012849Small intestinal bleeding2FGG CL E G H226698881ORPHA11433694134850
HP:0002239HP:0012849Small intestinal bleeding2GFI1B CL E G H8328187900Platelet-type bleeding disorder 17187900C1861194OMIM11234238604383
HP:0002239HP:0012849Small intestinal bleeding2GP1BA CL E G H2811231200Bernard Soulier syndrome231200C0005129OMIM11804439606672
HP:0002239HP:0012849Small intestinal bleeding2GP1BB CL E G H2812231200Bernard Soulier syndrome231200C0005129OMIM14794440138720
HP:0002239HP:0012849Small intestinal bleeding2GP9 CL E G H2815231200Bernard Soulier syndrome231200C0005129OMIM11134444173515
HP:0002239HP:0012849Small intestinal bleeding2HLA-B CL E G H3106117ORPHA1294932142830
HP:0002239HP:0012849Small intestinal bleeding2HSD3B7 CL E G H8027079301ORPHA113918324607764
HP:0002239HP:0012849Small intestinal bleeding2IL10 CL E G H3586117ORPHA11235962124092
HP:0002239HP:0012849Small intestinal bleeding2IL12A CL E G H3592117ORPHA1345969161560
HP:0002239HP:0012849Small intestinal bleeding2IL12A-AS1 CL E G H101928376117ORPHA118490940
HP:0002239HP:0012849Small intestinal bleeding2IL23R CL E G H149233117ORPHA124119100607562
HP:0002239HP:0012849Small intestinal bleeding2ITGA2B CL E G H3674273800Glanzmann thrombasthenia273800C0040015OMIM15406138607759
HP:0002239HP:0012849Small intestinal bleeding2ITGB3 CL E G H3690273800Glanzmann thrombasthenia273800C0040015OMIM14696156173470
HP:0002239HP:0012849Small intestinal bleeding2JAK2 CL E G H3717263300Polycythemia vera263300C0032463OMIM14126192147796
HP:0002239HP:0012849Small intestinal bleeding2KIT CL E G H381544890ORPHA124886342164920
HP:0002239HP:0012849Small intestinal bleeding2KLRC4 CL E G H8302117ORPHA1446377602893
HP:0002239HP:0012849Small intestinal bleeding2KRAS CL E G H3845144ORPHA14806407190070
HP:0002239HP:0012849Small intestinal bleeding2LBR CL E G H3930613471Reynolds syndrome613471C0748397OMIM13576518600024
HP:0002239HP:0012849Small intestinal bleeding2MEFV CL E G H4210117ORPHA110836998608107
HP:0002239HP:0012849Small intestinal bleeding2MLH1 CL E G H4292144ORPHA151227127120436
HP:0002239HP:0012849Small intestinal bleeding2MLH3 CL E G H27030144ORPHA122107128604395
HP:0002239HP:0012849Small intestinal bleeding2MSH2 CL E G H4436144ORPHA168567325609309
HP:0002239HP:0012849Small intestinal bleeding2MSH6 CL E G H2956144ORPHA184387329600678
HP:0002239HP:0012849Small intestinal bleeding2MVK CL E G H4598343ORPHA15707530251170
HP:0002239HP:0012849Small intestinal bleeding2PDGFRA CL E G H515644890ORPHA128328803173490
HP:0002239HP:0012849Small intestinal bleeding2PIK3CA CL E G H5290144ORPHA111598975171834
HP:0002239HP:0012849Small intestinal bleeding2PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM19319081153454
HP:0002239HP:0012849Small intestinal bleeding2PMS1 CL E G H5378144ORPHA11259121600258
HP:0002239HP:0012849Small intestinal bleeding2PMS2 CL E G H5395144ORPHA147199122600259
HP:0002239HP:0012849Small intestinal bleeding2RHBDF2 CL E G H796512198ORPHA120920788614404
HP:0002239HP:0012849Small intestinal bleeding2SDHA CL E G H638944890ORPHA1250310680600857
HP:0002239HP:0012849Small intestinal bleeding2SDHB CL E G H639097286ORPHA1124910681185470
HP:0002239HP:0012849Small intestinal bleeding2SDHB CL E G H639044890ORPHA1124910681185470
HP:0002239HP:0012849Small intestinal bleeding2SDHC CL E G H639144890ORPHA179810682602413
HP:0002239HP:0012849Small intestinal bleeding2SDHC CL E G H639197286ORPHA179810682602413
HP:0002239HP:0012849Small intestinal bleeding2SDHD CL E G H639297286ORPHA168610683602690
HP:0002239HP:0012849Small intestinal bleeding2STAT4 CL E G H6775117ORPHA130711365600558
HP:0002239HP:0012849Small intestinal bleeding2STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA1238911389602216
HP:0002239HP:0012849Small intestinal bleeding2STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM122526200613128
HP:0002239HP:0012849Small intestinal bleeding2TGFBR2 CL E G H7048144ORPHA194811773190182
HP:0002239HP:0012849Small intestinal bleeding2TLR4 CL E G H7099117ORPHA18311850603030
HP:0002239HP:0012849Small intestinal bleeding2UBAC2 CL E G H337867117ORPHA1126204860
HP:0002239HP:0012849Small intestinal bleeding2VWF CL E G H7450193400von Willebrand disease type 1193400C1264039OMIM1138512726613160
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002239HP:0002239Gastrointestinal hemorrhage0ABCC6 CL E G H368758Apo A-I deficiencyORPHA0166657603234
HP:0002239HP:0002239Gastrointestinal hemorrhage0ACVRL1 CL E G H94774ORPHA0888175601284
HP:0002239HP:0002239Gastrointestinal hemorrhage0APC CL E G H324873Bethlem myopathyC1834674ORPHA013157583611731
HP:0002239HP:0002239Gastrointestinal hemorrhage0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002239HP:0002239Gastrointestinal hemorrhage0ARVCF CL E G H421567ORPHA0620728602269
HP:0002239HP:0002239Gastrointestinal hemorrhage0ATP7A CL E G H538565ORPHA01751869300011
HP:0002239HP:0002239Gastrointestinal hemorrhage0CBS CL E G H875394ORPHA011201550613381
HP:0002239HP:0002239Gastrointestinal hemorrhage0CISD2 CL E G H4938563463ORPHA07124212611507
HP:0002239HP:0002239Gastrointestinal hemorrhage0COMT CL E G H1312567ORPHA06102228116790
HP:0002239HP:0002239Gastrointestinal hemorrhage0CTLA4 CL E G H1493900ORPHA02322505123890
HP:0002239HP:0002239Gastrointestinal hemorrhage0CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA06242514116806
HP:0002239HP:0002239Gastrointestinal hemorrhage0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002239HP:0002239Gastrointestinal hemorrhage0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002239HP:0002239Gastrointestinal hemorrhage0ENG CL E G H2022774ORPHA014133349131195
HP:0002239HP:0002239Gastrointestinal hemorrhage0ENPP1 CL E G H5167758Apo A-I deficiencyORPHA05893356173335
HP:0002239HP:0002239Gastrointestinal hemorrhage0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002239HP:0002239Gastrointestinal hemorrhage0F11 CL E G H2160329Eosinophilic cellulitisORPHA06823529264900
HP:0002239HP:0002239Gastrointestinal hemorrhage0F5 CL E G H2153131Myeloid sarcomaORPHA06013542612309
HP:0002239HP:0002239Gastrointestinal hemorrhage0FCGR2C CL E G H91033002Infantile spasms broad thumbsORPHA04915626612169
HP:0002239HP:0002239Gastrointestinal hemorrhage0GDF2 CL E G H2658774ORPHA03304217605120
HP:0002239HP:0002239Gastrointestinal hemorrhage0GP1BB CL E G H2812567ORPHA04794440138720
HP:0002239HP:0002239Gastrointestinal hemorrhage0HIRA CL E G H7290567ORPHA04764916600237
HP:0002239HP:0002239Gastrointestinal hemorrhage0HLA-B CL E G H310636426ORPHA0294932142830
HP:0002239HP:0002239Gastrointestinal hemorrhage0HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0002239HP:0002239Gastrointestinal hemorrhage0HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0002239HP:0002239Gastrointestinal hemorrhage0HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA02275154601688
HP:0002239HP:0002239Gastrointestinal hemorrhage0IKZF1 CL E G H1032036426ORPHA020013176603023
HP:0002239HP:0002239Gastrointestinal hemorrhage0ITGA2B CL E G H3674849ORPHA05406138607759
HP:0002239HP:0002239Gastrointestinal hemorrhage0ITGB3 CL E G H3690849ORPHA04696156173470
HP:0002239HP:0002239Gastrointestinal hemorrhage0JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA04126192147796
HP:0002239HP:0002239Gastrointestinal hemorrhage0JAK2 CL E G H3717131Myeloid sarcomaORPHA04126192147796
HP:0002239HP:0002239Gastrointestinal hemorrhage0JMJD1C CL E G H221037567ORPHA0117812313604503
HP:0002239HP:0002239Gastrointestinal hemorrhage0LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA018196697603506
HP:0002239HP:0002239Gastrointestinal hemorrhage0LYST CL E G H1130167ORPHA025751968606897
HP:0002239HP:0002239Gastrointestinal hemorrhage0MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA05627217159530
HP:0002239HP:0002239Gastrointestinal hemorrhage0MYC CL E G H4609543ORPHA0797553190080
HP:0002239HP:0002239Gastrointestinal hemorrhage0MYD88 CL E G H461533226ORPHA01417562602170
HP:0002239HP:0002239Gastrointestinal hemorrhage0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002239HP:0002239Gastrointestinal hemorrhage0PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA03029411177060
HP:0002239HP:0002239Gastrointestinal hemorrhage0PRTN3 CL E G H5657900ORPHA0559495177020
HP:0002239HP:0002239Gastrointestinal hemorrhage0PTPN22 CL E G H26191900ORPHA0639652600716
HP:0002239HP:0002239Gastrointestinal hemorrhage0PUF60 CL E G H22827508488ORPHA022817042604819
HP:0002239HP:0002239Gastrointestinal hemorrhage0RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002239HP:0002239Gastrointestinal hemorrhage0RREB1 CL E G H6239567ORPHA029710449602209
HP:0002239HP:0002239Gastrointestinal hemorrhage0SEC24C CL E G H9632567ORPHA05810705607185
HP:0002239HP:0002239Gastrointestinal hemorrhage0SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA040821082608648
HP:0002239HP:0002239Gastrointestinal hemorrhage0SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA024710955601460
HP:0002239HP:0002239Gastrointestinal hemorrhage0SMAD4 CL E G H4089774ORPHA018986770600993
HP:0002239HP:0002239Gastrointestinal hemorrhage0TBX1 CL E G H6899567ORPHA0116911592602054
HP:0002239HP:0002239Gastrointestinal hemorrhage0TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA032625941612839
HP:0002239HP:0002239Gastrointestinal hemorrhage0TNXB CL E G H7148230839ORPHA0215911976600985
HP:0002239HP:0002239Gastrointestinal hemorrhage0TSC1 CL E G H7248538ORPHA0417212362605284
HP:0002239HP:0002239Gastrointestinal hemorrhage0TSC2 CL E G H7249538ORPHA0963812363191092
HP:0002239HP:0002239Gastrointestinal hemorrhage0UFD1 CL E G H7353567ORPHA041512520601754
HP:0002239HP:0002239Gastrointestinal hemorrhage0WFS1 CL E G H74663463ORPHA0163412762606201
HP:0002239HP:0002248Hematemesis1ABCC6 CL E G H368758Apo A-I deficiencyORPHA0166657603234
HP:0002239HP:0002249Melena1ABCC6 CL E G H368758Apo A-I deficiencyORPHA0166657603234
HP:0002239HP:0032144Coffee ground vomitus1ABCC6 CL E G H368758Apo A-I deficiencyORPHA0166657603234
HP:0002239HP:0002584Intestinal bleeding1ABCC6 CL E G H368758Apo A-I deficiencyORPHA0166657603234
HP:0002239HP:0002573Hematochezia1ABCC6 CL E G H368758Apo A-I deficiencyORPHA0166657603234
HP:0002239HP:0002584Intestinal bleeding1ACVRL1 CL E G H94774ORPHA0888175601284
HP:0002239HP:0002573Hematochezia1ACVRL1 CL E G H94774ORPHA0888175601284
HP:0002239HP:0002248Hematemesis1ACVRL1 CL E G H94774ORPHA0888175601284
HP:0002239HP:0032144Coffee ground vomitus1ACVRL1 CL E G H94774ORPHA0888175601284
HP:0002239HP:0002249Melena1ACVRL1 CL E G H94774ORPHA0888175601284
HP:0002239HP:0002573Hematochezia1APC CL E G H324873Bethlem myopathyC1834674ORPHA013157583611731
HP:0002239HP:0002248Hematemesis1APC CL E G H324873Bethlem myopathyC1834674ORPHA013157583611731
HP:0002239HP:0002249Melena1APC CL E G H324873Bethlem myopathyC1834674ORPHA013157583611731
HP:0002239HP:0032144Coffee ground vomitus1APC CL E G H324873Bethlem myopathyC1834674ORPHA013157583611731
HP:0002239HP:0002584Intestinal bleeding1APC CL E G H324873Bethlem myopathyC1834674ORPHA013157583611731
HP:0002239HP:0002248Hematemesis1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002239HP:0002249Melena1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002239HP:0032144Coffee ground vomitus1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002239HP:0002584Intestinal bleeding1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002239HP:0002573Hematochezia1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002239HP:0002248Hematemesis1ARVCF CL E G H421567ORPHA0620728602269
HP:0002239HP:0002249Melena1ARVCF CL E G H421567ORPHA0620728602269
HP:0002239HP:0032144Coffee ground vomitus1ARVCF CL E G H421567ORPHA0620728602269
HP:0002239HP:0002584Intestinal bleeding1ARVCF CL E G H421567ORPHA0620728602269
HP:0002239HP:0002573Hematochezia1ARVCF CL E G H421567ORPHA0620728602269
HP:0002239HP:0032144Coffee ground vomitus1ATP7A CL E G H538565ORPHA01751869300011
HP:0002239HP:0002584Intestinal bleeding1ATP7A CL E G H538565ORPHA01751869300011
HP:0002239HP:0002573Hematochezia1ATP7A CL E G H538565ORPHA01751869300011
HP:0002239HP:0002248Hematemesis1ATP7A CL E G H538565ORPHA01751869300011
HP:0002239HP:0002249Melena1ATP7A CL E G H538565ORPHA01751869300011
HP:0002239HP:0032144Coffee ground vomitus1CBS CL E G H875394ORPHA011201550613381
HP:0002239HP:0002584Intestinal bleeding1CBS CL E G H875394ORPHA011201550613381
HP:0002239HP:0002573Hematochezia1CBS CL E G H875394ORPHA011201550613381
HP:0002239HP:0002248Hematemesis1CBS CL E G H875394ORPHA011201550613381
HP:0002239HP:0002249Melena1CBS CL E G H875394ORPHA011201550613381
HP:0002239HP:0002584Intestinal bleeding1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0002239HP:0002573Hematochezia1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0002239HP:0002248Hematemesis1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0002239HP:0002249Melena1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0002239HP:0032144Coffee ground vomitus1CISD2 CL E G H4938563463ORPHA07124212611507
HP:0002239HP:0002573Hematochezia1COMT CL E G H1312567ORPHA06102228116790
HP:0002239HP:0002249Melena1COMT CL E G H1312567ORPHA06102228116790
HP:0002239HP:0002248Hematemesis1COMT CL E G H1312567ORPHA06102228116790
HP:0002239HP:0032144Coffee ground vomitus1COMT CL E G H1312567ORPHA06102228116790
HP:0002239HP:0002584Intestinal bleeding1COMT CL E G H1312567ORPHA06102228116790
HP:0002239HP:0032144Coffee ground vomitus1CTLA4 CL E G H1493900ORPHA02322505123890
HP:0002239HP:0002584Intestinal bleeding1CTLA4 CL E G H1493900ORPHA02322505123890
HP:0002239HP:0002573Hematochezia1CTLA4 CL E G H1493900ORPHA02322505123890
HP:0002239HP:0002249Melena1CTLA4 CL E G H1493900ORPHA02322505123890
HP:0002239HP:0002248Hematemesis1CTLA4 CL E G H1493900ORPHA02322505123890
HP:0002239HP:0002584Intestinal bleeding1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA06242514116806
HP:0002239HP:0002573Hematochezia1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA06242514116806
HP:0002239HP:0002248Hematemesis1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA06242514116806
HP:0002239HP:0002249Melena1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA06242514116806
HP:0002239HP:0032144Coffee ground vomitus1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA06242514116806
HP:0002239HP:0002573Hematochezia1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002239HP:0002248Hematemesis1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002239HP:0002249Melena1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002239HP:0032144Coffee ground vomitus1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002239HP:0002584Intestinal bleeding1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002239HP:0002584Intestinal bleeding1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002239HP:0002573Hematochezia1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002239HP:0002248Hematemesis1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002239HP:0002249Melena1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002239HP:0032144Coffee ground vomitus1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002239HP:0002248Hematemesis1ENG CL E G H2022774ORPHA014133349131195
HP:0002239HP:0002249Melena1ENG CL E G H2022774ORPHA014133349131195
HP:0002239HP:0032144Coffee ground vomitus1ENG CL E G H2022774ORPHA014133349131195
HP:0002239HP:0002584Intestinal bleeding1ENG CL E G H2022774ORPHA014133349131195
HP:0002239HP:0002573Hematochezia1ENG CL E G H2022774ORPHA014133349131195
HP:0002239HP:0002573Hematochezia1ENPP1 CL E G H5167758Apo A-I deficiencyORPHA05893356173335
HP:0002239HP:0002248Hematemesis1ENPP1 CL E G H5167758Apo A-I deficiencyORPHA05893356173335
HP:0002239HP:0002249Melena1ENPP1 CL E G H5167758Apo A-I deficiencyORPHA05893356173335
HP:0002239HP:0032144Coffee ground vomitus1ENPP1 CL E G H5167758Apo A-I deficiencyORPHA05893356173335
HP:0002239HP:0002584Intestinal bleeding1ENPP1 CL E G H5167758Apo A-I deficiencyORPHA05893356173335
HP:0002239HP:0032144Coffee ground vomitus1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002239HP:0002584Intestinal bleeding1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002239HP:0002573Hematochezia1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002239HP:0002249Melena1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002239HP:0002248Hematemesis1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002239HP:0002573Hematochezia1F11 CL E G H2160329Eosinophilic cellulitisORPHA06823529264900
HP:0002239HP:0002249Melena1F11 CL E G H2160329Eosinophilic cellulitisORPHA06823529264900
HP:0002239HP:0002248Hematemesis1F11 CL E G H2160329Eosinophilic cellulitisORPHA06823529264900
HP:0002239HP:0032144Coffee ground vomitus1F11 CL E G H2160329Eosinophilic cellulitisORPHA06823529264900
HP:0002239HP:0002584Intestinal bleeding1F11 CL E G H2160329Eosinophilic cellulitisORPHA06823529264900
HP:0002239HP:0002584Intestinal bleeding1F5 CL E G H2153131Myeloid sarcomaORPHA06013542612309
HP:0002239HP:0002573Hematochezia1F5 CL E G H2153131Myeloid sarcomaORPHA06013542612309
HP:0002239HP:0002248Hematemesis1F5 CL E G H2153131Myeloid sarcomaORPHA06013542612309
HP:0002239HP:0002249Melena1F5 CL E G H2153131Myeloid sarcomaORPHA06013542612309
HP:0002239HP:0032144Coffee ground vomitus1F5 CL E G H2153131Myeloid sarcomaORPHA06013542612309
HP:0002239HP:0002573Hematochezia1FCGR2C CL E G H91033002Infantile spasms broad thumbsORPHA04915626612169
HP:0002239HP:0002248Hematemesis1FCGR2C CL E G H91033002Infantile spasms broad thumbsORPHA04915626612169
HP:0002239HP:0002249Melena1FCGR2C CL E G H91033002Infantile spasms broad thumbsORPHA04915626612169
HP:0002239HP:0032144Coffee ground vomitus1FCGR2C CL E G H91033002Infantile spasms broad thumbsORPHA04915626612169
HP:0002239HP:0002584Intestinal bleeding1FCGR2C CL E G H91033002Infantile spasms broad thumbsORPHA04915626612169
HP:0002239HP:0002573Hematochezia1GDF2 CL E G H2658774ORPHA03304217605120
HP:0002239HP:0002248Hematemesis1GDF2 CL E G H2658774ORPHA03304217605120
HP:0002239HP:0002249Melena1GDF2 CL E G H2658774ORPHA03304217605120
HP:0002239HP:0032144Coffee ground vomitus1GDF2 CL E G H2658774ORPHA03304217605120
HP:0002239HP:0002584Intestinal bleeding1GDF2 CL E G H2658774ORPHA03304217605120
HP:0002239HP:0002584Intestinal bleeding1GP1BB CL E G H2812567ORPHA04794440138720
HP:0002239HP:0002573Hematochezia1GP1BB CL E G H2812567ORPHA04794440138720
HP:0002239HP:0002248Hematemesis1GP1BB CL E G H2812567ORPHA04794440138720
HP:0002239HP:0002249Melena1GP1BB CL E G H2812567ORPHA04794440138720
HP:0002239HP:0032144Coffee ground vomitus1GP1BB CL E G H2812567ORPHA04794440138720
HP:0002239HP:0032144Coffee ground vomitus1HIRA CL E G H7290567ORPHA04764916600237
HP:0002239HP:0002584Intestinal bleeding1HIRA CL E G H7290567ORPHA04764916600237
HP:0002239HP:0002573Hematochezia1HIRA CL E G H7290567ORPHA04764916600237
HP:0002239HP:0002248Hematemesis1HIRA CL E G H7290567ORPHA04764916600237
HP:0002239HP:0002249Melena1HIRA CL E G H7290567ORPHA04764916600237
HP:0002239HP:0002573Hematochezia1HLA-B CL E G H310636426ORPHA0294932142830
HP:0002239HP:0002248Hematemesis1HLA-B CL E G H310636426ORPHA0294932142830
HP:0002239HP:0002249Melena1HLA-B CL E G H310636426ORPHA0294932142830
HP:0002239HP:0032144Coffee ground vomitus1HLA-B CL E G H310636426ORPHA0294932142830
HP:0002239HP:0002584Intestinal bleeding1HLA-B CL E G H310636426ORPHA0294932142830
HP:0002239HP:0002248Hematemesis1HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0002239HP:0002249Melena1HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0002239HP:0032144Coffee ground vomitus1HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0002239HP:0002584Intestinal bleeding1HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0002239HP:0002573Hematochezia1HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0002239HP:0002573Hematochezia1HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0002239HP:0002248Hematemesis1HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0002239HP:0002249Melena1HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0002239HP:0032144Coffee ground vomitus1HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0002239HP:0002584Intestinal bleeding1HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0002239HP:0032144Coffee ground vomitus1HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA02275154601688
HP:0002239HP:0002584Intestinal bleeding1HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA02275154601688
HP:0002239HP:0002573Hematochezia1HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA02275154601688
HP:0002239HP:0002248Hematemesis1HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA02275154601688
HP:0002239HP:0002249Melena1HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA02275154601688
HP:0002239HP:0002584Intestinal bleeding1IKZF1 CL E G H1032036426ORPHA020013176603023
HP:0002239HP:0002573Hematochezia1IKZF1 CL E G H1032036426ORPHA020013176603023
HP:0002239HP:0002248Hematemesis1IKZF1 CL E G H1032036426ORPHA020013176603023
HP:0002239HP:0002249Melena1IKZF1 CL E G H1032036426ORPHA020013176603023
HP:0002239HP:0032144Coffee ground vomitus1IKZF1 CL E G H1032036426ORPHA020013176603023
HP:0002239HP:0032144Coffee ground vomitus1ITGA2B CL E G H3674849ORPHA05406138607759
HP:0002239HP:0002584Intestinal bleeding1ITGA2B CL E G H3674849ORPHA05406138607759
HP:0002239HP:0002573Hematochezia1ITGA2B CL E G H3674849ORPHA05406138607759
HP:0002239HP:0002248Hematemesis1ITGA2B CL E G H3674849ORPHA05406138607759
HP:0002239HP:0002249Melena1ITGA2B CL E G H3674849ORPHA05406138607759
HP:0002239HP:0002248Hematemesis1ITGB3 CL E G H3690849ORPHA04696156173470
HP:0002239HP:0002249Melena1ITGB3 CL E G H3690849ORPHA04696156173470
HP:0002239HP:0032144Coffee ground vomitus1ITGB3 CL E G H3690849ORPHA04696156173470
HP:0002239HP:0002584Intestinal bleeding1ITGB3 CL E G H3690849ORPHA04696156173470
HP:0002239HP:0002573Hematochezia1ITGB3 CL E G H3690849ORPHA04696156173470
HP:0002239HP:0002573Hematochezia1JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA04126192147796
HP:0002239HP:0002249Melena1JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA04126192147796
HP:0002239HP:0002248Hematemesis1JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA04126192147796
HP:0002239HP:0032144Coffee ground vomitus1JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA04126192147796
HP:0002239HP:0002584Intestinal bleeding1JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA04126192147796
HP:0002239HP:0032144Coffee ground vomitus1JAK2 CL E G H3717131Myeloid sarcomaORPHA04126192147796
HP:0002239HP:0002584Intestinal bleeding1JAK2 CL E G H3717131Myeloid sarcomaORPHA04126192147796
HP:0002239HP:0002573Hematochezia1JAK2 CL E G H3717131Myeloid sarcomaORPHA04126192147796
HP:0002239HP:0002248Hematemesis1JAK2 CL E G H3717131Myeloid sarcomaORPHA04126192147796
HP:0002239HP:0002249Melena1JAK2 CL E G H3717131Myeloid sarcomaORPHA04126192147796
HP:0002239HP:0002248Hematemesis1JMJD1C CL E G H221037567ORPHA0117812313604503
HP:0002239HP:0002249Melena1JMJD1C CL E G H221037567ORPHA0117812313604503
HP:0002239HP:0032144Coffee ground vomitus1JMJD1C CL E G H221037567ORPHA0117812313604503
HP:0002239HP:0002584Intestinal bleeding1JMJD1C CL E G H221037567ORPHA0117812313604503
HP:0002239HP:0002573Hematochezia1JMJD1C CL E G H221037567ORPHA0117812313604503
HP:0002239HP:0002584Intestinal bleeding1LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA018196697603506
HP:0002239HP:0002573Hematochezia1LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA018196697603506
HP:0002239HP:0002248Hematemesis1LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA018196697603506
HP:0002239HP:0002249Melena1LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA018196697603506
HP:0002239HP:0032144Coffee ground vomitus1LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA018196697603506
HP:0002239HP:0032144Coffee ground vomitus1LYST CL E G H1130167ORPHA025751968606897
HP:0002239HP:0002584Intestinal bleeding1LYST CL E G H1130167ORPHA025751968606897
HP:0002239HP:0002573Hematochezia1LYST CL E G H1130167ORPHA025751968606897
HP:0002239HP:0002248Hematemesis1LYST CL E G H1130167ORPHA025751968606897
HP:0002239HP:0002249Melena1LYST CL E G H1130167ORPHA025751968606897
HP:0002239HP:0002584Intestinal bleeding1MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA05627217159530
HP:0002239HP:0002573Hematochezia1MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA05627217159530
HP:0002239HP:0002248Hematemesis1MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA05627217159530
HP:0002239HP:0002249Melena1MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA05627217159530
HP:0002239HP:0032144Coffee ground vomitus1MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA05627217159530
HP:0002239HP:0002584Intestinal bleeding1MYC CL E G H4609543ORPHA0797553190080
HP:0002239HP:0002573Hematochezia1MYC CL E G H4609543ORPHA0797553190080
HP:0002239HP:0002249Melena1MYC CL E G H4609543ORPHA0797553190080
HP:0002239HP:0002248Hematemesis1MYC CL E G H4609543ORPHA0797553190080
HP:0002239HP:0032144Coffee ground vomitus1MYC CL E G H4609543ORPHA0797553190080
HP:0002239HP:0002248Hematemesis1MYD88 CL E G H461533226ORPHA01417562602170
HP:0002239HP:0002249Melena1MYD88 CL E G H461533226ORPHA01417562602170
HP:0002239HP:0032144Coffee ground vomitus1MYD88 CL E G H461533226ORPHA01417562602170
HP:0002239HP:0002584Intestinal bleeding1MYD88 CL E G H461533226ORPHA01417562602170
HP:0002239HP:0002573Hematochezia1MYD88 CL E G H461533226ORPHA01417562602170
HP:0002239HP:0002248Hematemesis1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002239HP:0002249Melena1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002239HP:0032144Coffee ground vomitus1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002239HP:0002584Intestinal bleeding1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002239HP:0002573Hematochezia1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002239HP:0032144Coffee ground vomitus1PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA03029411177060
HP:0002239HP:0002584Intestinal bleeding1PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA03029411177060
HP:0002239HP:0002573Hematochezia1PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA03029411177060
HP:0002239HP:0002249Melena1PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA03029411177060
HP:0002239HP:0002248Hematemesis1PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA03029411177060
HP:0002239HP:0002584Intestinal bleeding1PRTN3 CL E G H5657900ORPHA0559495177020
HP:0002239HP:0002573Hematochezia1PRTN3 CL E G H5657900ORPHA0559495177020
HP:0002239HP:0002249Melena1PRTN3 CL E G H5657900ORPHA0559495177020
HP:0002239HP:0002248Hematemesis1PRTN3 CL E G H5657900ORPHA0559495177020
HP:0002239HP:0032144Coffee ground vomitus1PRTN3 CL E G H5657900ORPHA0559495177020
HP:0002239HP:0032144Coffee ground vomitus1PTPN22 CL E G H26191900ORPHA0639652600716
HP:0002239HP:0002584Intestinal bleeding1PTPN22 CL E G H26191900ORPHA0639652600716
HP:0002239HP:0002573Hematochezia1PTPN22 CL E G H26191900ORPHA0639652600716
HP:0002239HP:0002248Hematemesis1PTPN22 CL E G H26191900ORPHA0639652600716
HP:0002239HP:0002249Melena1PTPN22 CL E G H26191900ORPHA0639652600716
HP:0002239HP:0002584Intestinal bleeding1PUF60 CL E G H22827508488ORPHA022817042604819
HP:0002239HP:0002573Hematochezia1PUF60 CL E G H22827508488ORPHA022817042604819
HP:0002239HP:0002248Hematemesis1PUF60 CL E G H22827508488ORPHA022817042604819
HP:0002239HP:0002249Melena1PUF60 CL E G H22827508488ORPHA022817042604819
HP:0002239HP:0032144Coffee ground vomitus1PUF60 CL E G H22827508488ORPHA022817042604819
HP:0002239HP:0002573Hematochezia1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002239HP:0002248Hematemesis1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002239HP:0002249Melena1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002239HP:0032144Coffee ground vomitus1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002239HP:0002584Intestinal bleeding1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002239HP:0002573Hematochezia1RREB1 CL E G H6239567ORPHA029710449602209
HP:0002239HP:0002248Hematemesis1RREB1 CL E G H6239567ORPHA029710449602209
HP:0002239HP:0002249Melena1RREB1 CL E G H6239567ORPHA029710449602209
HP:0002239HP:0032144Coffee ground vomitus1RREB1 CL E G H6239567ORPHA029710449602209
HP:0002239HP:0002584Intestinal bleeding1RREB1 CL E G H6239567ORPHA029710449602209
HP:0002239HP:0002584Intestinal bleeding1SEC24C CL E G H9632567ORPHA05810705607185
HP:0002239HP:0002573Hematochezia1SEC24C CL E G H9632567ORPHA05810705607185
HP:0002239HP:0002249Melena1SEC24C CL E G H9632567ORPHA05810705607185
HP:0002239HP:0002248Hematemesis1SEC24C CL E G H9632567ORPHA05810705607185
HP:0002239HP:0032144Coffee ground vomitus1SEC24C CL E G H9632567ORPHA05810705607185
HP:0002239HP:0002248Hematemesis1SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA040821082608648
HP:0002239HP:0002249Melena1SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA040821082608648
HP:0002239HP:0032144Coffee ground vomitus1SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA040821082608648
HP:0002239HP:0002584Intestinal bleeding1SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA040821082608648
HP:0002239HP:0002573Hematochezia1SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA040821082608648
HP:0002239HP:0002248Hematemesis1SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA024710955601460
HP:0002239HP:0002249Melena1SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA024710955601460
HP:0002239HP:0032144Coffee ground vomitus1SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA024710955601460
HP:0002239HP:0002584Intestinal bleeding1SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA024710955601460
HP:0002239HP:0002573Hematochezia1SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA024710955601460
HP:0002239HP:0002584Intestinal bleeding1SMAD4 CL E G H4089774ORPHA018986770600993
HP:0002239HP:0002573Hematochezia1SMAD4 CL E G H4089774ORPHA018986770600993
HP:0002239HP:0002249Melena1SMAD4 CL E G H4089774ORPHA018986770600993
HP:0002239HP:0002248Hematemesis1SMAD4 CL E G H4089774ORPHA018986770600993
HP:0002239HP:0032144Coffee ground vomitus1SMAD4 CL E G H4089774ORPHA018986770600993
HP:0002239HP:0032144Coffee ground vomitus1TBX1 CL E G H6899567ORPHA0116911592602054
HP:0002239HP:0002584Intestinal bleeding1TBX1 CL E G H6899567ORPHA0116911592602054
HP:0002239HP:0002573Hematochezia1TBX1 CL E G H6899567ORPHA0116911592602054
HP:0002239HP:0002248Hematemesis1TBX1 CL E G H6899567ORPHA0116911592602054
HP:0002239HP:0002249Melena1TBX1 CL E G H6899567ORPHA0116911592602054
HP:0002239HP:0032144Coffee ground vomitus1TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA032625941612839
HP:0002239HP:0002584Intestinal bleeding1TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA032625941612839
HP:0002239HP:0002573Hematochezia1TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA032625941612839
HP:0002239HP:0002248Hematemesis1TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA032625941612839
HP:0002239HP:0002249Melena1TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA032625941612839
HP:0002239HP:0002248Hematemesis1TNXB CL E G H7148230839ORPHA0215911976600985
HP:0002239HP:0002249Melena1TNXB CL E G H7148230839ORPHA0215911976600985
HP:0002239HP:0032144Coffee ground vomitus1TNXB CL E G H7148230839ORPHA0215911976600985
HP:0002239HP:0002584Intestinal bleeding1TNXB CL E G H7148230839ORPHA0215911976600985
HP:0002239HP:0002573Hematochezia1TNXB CL E G H7148230839ORPHA0215911976600985
HP:0002239HP:0002248Hematemesis1TSC1 CL E G H7248538ORPHA0417212362605284
HP:0002239HP:0002249Melena1TSC1 CL E G H7248538ORPHA0417212362605284
HP:0002239HP:0032144Coffee ground vomitus1TSC1 CL E G H7248538ORPHA0417212362605284
HP:0002239HP:0002584Intestinal bleeding1TSC1 CL E G H7248538ORPHA0417212362605284
HP:0002239HP:0002573Hematochezia1TSC1 CL E G H7248538ORPHA0417212362605284
HP:0002239HP:0002573Hematochezia1TSC2 CL E G H7249538ORPHA0963812363191092
HP:0002239HP:0002248Hematemesis1TSC2 CL E G H7249538ORPHA0963812363191092
HP:0002239HP:0002249Melena1TSC2 CL E G H7249538ORPHA0963812363191092
HP:0002239HP:0032144Coffee ground vomitus1TSC2 CL E G H7249538ORPHA0963812363191092
HP:0002239HP:0002584Intestinal bleeding1TSC2 CL E G H7249538ORPHA0963812363191092
HP:0002239HP:0002248Hematemesis1UFD1 CL E G H7353567ORPHA041512520601754
HP:0002239HP:0002249Melena1UFD1 CL E G H7353567ORPHA041512520601754
HP:0002239HP:0032144Coffee ground vomitus1UFD1 CL E G H7353567ORPHA041512520601754
HP:0002239HP:0002584Intestinal bleeding1UFD1 CL E G H7353567ORPHA041512520601754
HP:0002239HP:0002573Hematochezia1UFD1 CL E G H7353567ORPHA041512520601754
HP:0002239HP:0032144Coffee ground vomitus1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0002239HP:0002584Intestinal bleeding1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0002239HP:0002573Hematochezia1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0002239HP:0002248Hematemesis1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0002239HP:0002249Melena1WFS1 CL E G H74663463ORPHA0163412762606201
HP:0002239HP:0012849Small intestinal bleeding2ABCC6 CL E G H368758Apo A-I deficiencyORPHA0166657603234
HP:0002239HP:0012849Small intestinal bleeding2ACVRL1 CL E G H94774ORPHA0888175601284
HP:0002239HP:0012849Small intestinal bleeding2APC CL E G H324873Bethlem myopathyC1834674ORPHA013157583611731
HP:0002239HP:0012849Small intestinal bleeding2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002239HP:0012849Small intestinal bleeding2ARVCF CL E G H421567ORPHA0620728602269
HP:0002239HP:0012849Small intestinal bleeding2ATP7A CL E G H538565ORPHA01751869300011
HP:0002239HP:0012849Small intestinal bleeding2CBS CL E G H875394ORPHA011201550613381
HP:0002239HP:0012849Small intestinal bleeding2CISD2 CL E G H4938563463ORPHA07124212611507
HP:0002239HP:0012849Small intestinal bleeding2COMT CL E G H1312567ORPHA06102228116790
HP:0002239HP:0012849Small intestinal bleeding2CTLA4 CL E G H1493900ORPHA02322505123890
HP:0002239HP:0012849Small intestinal bleeding2CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA06242514116806
HP:0002239HP:0012849Small intestinal bleeding2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002239HP:0012849Small intestinal bleeding2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002239HP:0012849Small intestinal bleeding2ENG CL E G H2022774ORPHA014133349131195
HP:0002239HP:0012849Small intestinal bleeding2ENPP1 CL E G H5167758Apo A-I deficiencyORPHA05893356173335
HP:0002239HP:0012849Small intestinal bleeding2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002239HP:0012849Small intestinal bleeding2F11 CL E G H2160329Eosinophilic cellulitisORPHA06823529264900
HP:0002239HP:0012849Small intestinal bleeding2F5 CL E G H2153131Myeloid sarcomaORPHA06013542612309
HP:0002239HP:0012849Small intestinal bleeding2FCGR2C CL E G H91033002Infantile spasms broad thumbsORPHA04915626612169
HP:0002239HP:0012849Small intestinal bleeding2GDF2 CL E G H2658774ORPHA03304217605120
HP:0002239HP:0012849Small intestinal bleeding2GP1BB CL E G H2812567ORPHA04794440138720
HP:0002239HP:0012849Small intestinal bleeding2HIRA CL E G H7290567ORPHA04764916600237
HP:0002239HP:0012849Small intestinal bleeding2HLA-B CL E G H310636426ORPHA0294932142830
HP:0002239HP:0012849Small intestinal bleeding2HLA-DPA1 CL E G H3113900ORPHA0184938142880
HP:0002239HP:0012849Small intestinal bleeding2HLA-DPB1 CL E G H3115900ORPHA0194940142858
HP:0002239HP:0012849Small intestinal bleeding2HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA02275154601688
HP:0002239HP:0012849Small intestinal bleeding2IKZF1 CL E G H1032036426ORPHA020013176603023
HP:0002239HP:0012849Small intestinal bleeding2ITGA2B CL E G H3674849ORPHA05406138607759
HP:0002239HP:0012849Small intestinal bleeding2ITGB3 CL E G H3690849ORPHA04696156173470
HP:0002239HP:0012849Small intestinal bleeding2JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA04126192147796
HP:0002239HP:0012849Small intestinal bleeding2JAK2 CL E G H3717131Myeloid sarcomaORPHA04126192147796
HP:0002239HP:0012849Small intestinal bleeding2JMJD1C CL E G H221037567ORPHA0117812313604503
HP:0002239HP:0012849Small intestinal bleeding2LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA018196697603506
HP:0002239HP:0012849Small intestinal bleeding2LYST CL E G H1130167ORPHA025751968606897
HP:0002239HP:0012849Small intestinal bleeding2MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA05627217159530
HP:0002239HP:0012849Small intestinal bleeding2MYC CL E G H4609543ORPHA0797553190080
HP:0002239HP:0012849Small intestinal bleeding2MYD88 CL E G H461533226ORPHA01417562602170
HP:0002239HP:0012849Small intestinal bleeding2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002239HP:0012849Small intestinal bleeding2PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA03029411177060
HP:0002239HP:0012849Small intestinal bleeding2PRTN3 CL E G H5657900ORPHA0559495177020
HP:0002239HP:0012849Small intestinal bleeding2PTPN22 CL E G H26191900ORPHA0639652600716
HP:0002239HP:0012849Small intestinal bleeding2PUF60 CL E G H22827508488ORPHA022817042604819
HP:0002239HP:0012849Small intestinal bleeding2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002239HP:0012849Small intestinal bleeding2RREB1 CL E G H6239567ORPHA029710449602209
HP:0002239HP:0012849Small intestinal bleeding2SEC24C CL E G H9632567ORPHA05810705607185
HP:0002239HP:0012849Small intestinal bleeding2SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA040821082608648
HP:0002239HP:0012849Small intestinal bleeding2SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA024710955601460
HP:0002239HP:0012849Small intestinal bleeding2SMAD4 CL E G H4089774ORPHA018986770600993
HP:0002239HP:0012849Small intestinal bleeding2TBX1 CL E G H6899567ORPHA0116911592602054
HP:0002239HP:0012849Small intestinal bleeding2TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA032625941612839
HP:0002239HP:0012849Small intestinal bleeding2TNXB CL E G H7148230839ORPHA0215911976600985
HP:0002239HP:0012849Small intestinal bleeding2TSC1 CL E G H7248538ORPHA0417212362605284
HP:0002239HP:0012849Small intestinal bleeding2TSC2 CL E G H7249538ORPHA0963812363191092
HP:0002239HP:0012849Small intestinal bleeding2UFD1 CL E G H7353567ORPHA041512520601754
HP:0002239HP:0012849Small intestinal bleeding2WFS1 CL E G H74663463ORPHA0163412762606201


Genes (119) :ABCC6 ACVRL1 ADAM17 AGGF1 ALDOB APC ARHGAP31 ARVCF ATP7A ATRX B2M BMPR1A C4A CBS CCR1 CISD2 COMT CTC1 CTLA4 CTNNB1 CYP7B1 DAXX DLL4 DOCK6 ENG ENPP1 EOGT EPCAM ERAP1 F11 F2 F5 F7 F9 FAH FAN1 FAS FCGR2C FGA FGB FGG GDF2 GFI1B GP1BA GP1BB GP9 HIRA HLA-B HLA-DPA1 HLA-DPB1 HPGD HPS1 HSD3B7 IKZF1 IL10 IL10RA IL12A IL12A-AS1 IL23R ITGA2B ITGB3 JAK2 JMJD1C KIF23 KIT KLRC4 KRAS LBR LRP5 LYST MEFV MLH1 MLH3 MPL MSH2 MSH6 MVK MYC MYD88 NOTCH1 PDGFRA PIK3CA PLOD1 PLVAP PMS1 PMS2 PRKCSH PRTN3 PTPN22 PUF60 RBPJ RHBDF2 RREB1 SDHA SDHB SDHC SDHD SEC24C SEC63 SLCO2A1 SMAD4 STAT4 STK11 STN1 TBX1 TEK TET2 TGFBR2 TLR4 TNXB TSC1 TSC2 TTC7A UBAC2 UFD1 VWF WAS WFS1 WIPF1

Diseases (70) :758 264800 177850 774 90308 229600 873 974 567 565 314652 117 394 3463 900 79302 144 329 613679 131 327 306900 276700 3002 98881 101041 187900 231200 36426 2796 79301 849 273800 729 263300 44890 613471 2924 167 343 543 33226 225400 508488 2198 97286 2869 617341 230839 538 193400 600376 614328 261584 100075 174900 612199 187300 274 203300 613148 98870 618183 175050 175200 1059 600195 243150 906 301000
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.