| Human Phenotype
Ontology
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Grandparent Node:
 Abnormal intestine morphology (HP:0002242) | Parent Node:
Abnormality of the anus (HP:0004378) | Parent Node:
Intestinal fistula (HP:0100819) | ..Starting node
..Anal fistula (HP:0010447)
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| Term ID: |
10447 |
| Name: |
Anal fistula |
| Synonym: |
Fistula in ano |
| Definition: |
An abnormal connection between the epithelialised surface of the anal canal and the perianal skin. |
| Comments: |
|
| Reference: |
HP:0010447 |
| Genes and Diseases: | |
Child Nodes: | ........Anoperineal fistula (HP:0005218)
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Sister Nodes: | ..Rectal fistula (HP:0100590)
| | Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0010447 | HP:0010447 | Anal fistula | 0 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | | | HP:0010447 | HP:0010447 | Anal fistula | 0 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | | | HP:0010447 | HP:0010447 | Anal fistula | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | | | | 53 | | | | HP:0010447 | HP:0010447 | Anal fistula | 0 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | | | | 660 | | | | HP:0010447 | HP:0010447 | Anal fistula | 0 | MNX1 CL E G H | 3110 | 4979 | OMIM:176450 | Currarino syndrome | . | | | 17 | | | | HP:0010447 | HP:0010447 | Anal fistula | 0 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | | | | 107 | | | | HP:0010447 | HP:0010447 | Anal fistula | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | | | HP:0010447 | HP:0010447 | Anal fistula | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | | | HP:0010447 | HP:0005218 | Anoperineal fistula | 1 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | | | HP:0010447 | HP:0005218 | Anoperineal fistula | 1 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | | | HP:0010447 | HP:0005218 | Anoperineal fistula | 1 | KDM6A CL E G H | 7403 | 12637 | OMIM:147920 | Kabuki syndrome 1 | . | | | 53 | | | | HP:0010447 | HP:0005218 | Anoperineal fistula | 1 | KMT2D CL E G H | 8085 | 7133 | OMIM:147920 | Kabuki syndrome 1 | . | | | 660 | | | | HP:0010447 | HP:0005218 | Anoperineal fistula | 1 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | HP:0040283 - Occasional | | | 107 | | | | HP:0010447 | HP:0005218 | Anoperineal fistula | 1 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | | | HP:0010447 | HP:0005218 | Anoperineal fistula | 1 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
Genes (8) :CD3G ELF4 KDM6A KMT2D MNX1 PKP1 SYK TGFB1
Diseases (7) :OMIM:615607 OMIM:301074 OMIM:147920 OMIM:176450 ORPHA:158668 OMIM:619381 OMIM:618213 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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