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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Bloody diarrhea (HP:0025085)help
Parent Node:
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Gastrointestinal hemorrhage (HP:0002239)help
..Starting node
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Hematochezia (HP:0002573)help
Term ID: 2573
Name: Hematochezia
Synonym: Rectal bleeding; Recurrent rectal bleeding
Definition: The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Comments:
Reference: HP:0002573
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHematemesis (HP:0002248) 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:0002573HP:0002573Hematochezia0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0002573HP:0002573Hematochezia0AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 444
HP:0002573HP:0002573Hematochezia0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040283 - Occasional3179
HP:0002573HP:0002573Hematochezia0ARPC1B CL E G H10095704OMIM:617718Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0002573HP:0002573Hematochezia0BMPR1A CL E G H6571076ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coliHP:0040282 - Frequent385
HP:0002573HP:0002573Hematochezia0BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndromeHP:0040281 - Very frequent385
HP:0002573HP:0002573Hematochezia0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent385
HP:0002573HP:0002573Hematochezia0BMPR1A CL E G H6571076OMIM:174900Juvenile polyposis syndrome385
HP:0002573HP:0002573Hematochezia0CYP7B1 CL E G H94202652OMIM:613812Bile acid synthesis defect, congenital, 357
HP:0002573HP:0002573Hematochezia0ENG CL E G H20223349ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coliHP:0040282 - Frequent186
HP:0002573HP:0002573Hematochezia0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1.186
HP:0002573HP:0002573Hematochezia0F5 CL E G H21533542ORPHA:326Congenital factor V deficiencyHP:0040284 - Very rare159
HP:0002573HP:0002573Hematochezia0GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndromeHP:0040281 - Very frequent9
HP:0002573HP:0002573Hematochezia0HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1.121
HP:0002573HP:0002573Hematochezia0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0002573HP:0002573Hematochezia0IL10RA CL E G H35875964OMIM:613148INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD2864
HP:0002573HP:0002573Hematochezia0PLVAP CL E G H8348313635OMIM:618183Diarrhea 10, protein-losing Enteropathy type.
HP:0002573HP:0002573Hematochezia0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent948
HP:0002573HP:0002573Hematochezia0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0002573HP:0002573Hematochezia0SMAD4 CL E G H40896770ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coliHP:0040282 - Frequent504
HP:0002573HP:0002573Hematochezia0SMAD4 CL E G H40896770OMIM:174900Juvenile polyposis syndrome504
HP:0002573HP:0002573Hematochezia0SMAD4 CL E G H40896770OMIM:175050Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome.504
HP:0002573HP:0002573Hematochezia0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002573HP:0002573Hematochezia0TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome.26
HP:0002573HP:0002573Hematochezia0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040282 - Frequent65
HP:0002573HP:0002573Hematochezia0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040282 - Frequent6


Genes (20) :ACVRL1 AMACR APC ARPC1B BMPR1A CYP7B1 ENG F5 GREM1 HPS1 IFIH1 IL10RA PLVAP PTEN RBCK1 SMAD4 TAOK1 TTC7A WAS WIPF1

Diseases (20) :OMIM:600376 ORPHA:79095 ORPHA:99818 OMIM:617718 ORPHA:329971 ORPHA:157794 ORPHA:79076 OMIM:174900 OMIM:613812 OMIM:187300 ORPHA:326 OMIM:203300 OMIM:615846 OMIM:613148 OMIM:618183 OMIM:615895 OMIM:175050 OMIM:619575 OMIM:243150 ORPHA:906
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.