Human Phenotype Ontology 
Grandparent Node:
expandFunctional abnormality of the gastrointestinal tract (HP:0012719)help
Grandparent Node:
expandIncreased inflammatory response (HP:0012649)help
Parent Node:
expandGastrointestinal inflammation (HP:0004386)help
..Starting node
..expandCrohn's disease (HP:0100280)help
Term ID: 100280
Name: Crohn's disease
Synonym: Granulomatous enteritis and colitis; Morbus Crohn
Definition: A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.
Comments:
Reference: HP:0100280
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandEsophagitis (HP:0100633) help
..expandInflammation of the large intestine (HP:0002037) 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:0100280HP:0100280Crohn's disease0BACH2 CL E G H6046814078OMIM:618394IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0100280HP:0100280Crohn's disease0CARD10 CL E G H2977516422OMIM:619632IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD895
HP:0100280HP:0100280Crohn's disease0CTLA4 CL E G H14932505OMIM:616100AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS510
HP:0100280HP:0100280Crohn's disease0CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0100280HP:0100280Crohn's disease0FNIP1 CL E G H9645929418OMIM:619705IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD931
HP:0100280HP:0100280Crohn's disease0GUCY2C CL E G H29844688OMIM:614616Diarrhea 612
HP:0100280HP:0100280Crohn's disease0IL10RA CL E G H35875964OMIM:613148INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD2864
HP:0100280HP:0100280Crohn's disease0IL21 CL E G H590676005OMIM:615767IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID113
HP:0100280HP:0100280Crohn's disease0IL6 CL E G H35696018OMIM:266600Inflammatory bowel disease 1, Crohn disease.2
HP:0100280HP:0100280Crohn's disease0INAVA CL E G H5576525599OMIM:618077INFLAMMATORY BOWEL DISEASE 29; IBD29
HP:0100280HP:0100280Crohn's disease0MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0100280HP:0100280Crohn's disease0NOD2 CL E G H641275331OMIM:266600Inflammatory bowel disease 1, Crohn disease.187
HP:0100280HP:0100280Crohn's disease0PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0100280HP:0100280Crohn's disease0PSTPIP1 CL E G H90519580ORPHA:69126Pyogenic arthritis-pyoderma gangrenosum-acne syndromeHP:0040283 - Occasional96
HP:0100280HP:0100280Crohn's disease0SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821


Genes (15) :BACH2 CARD10 CTLA4 CYBC1 FNIP1 GUCY2C IL10RA IL21 IL6 INAVA MEFV NOD2 PI4KA PSTPIP1 SYK

Diseases (14) :OMIM:618394 OMIM:619632 OMIM:616100 OMIM:618935 OMIM:619705 OMIM:614616 OMIM:613148 OMIM:615767 OMIM:266600 OMIM:618077 OMIM:249100 OMIM:619621 ORPHA:69126 OMIM:619381
 

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