| Term ID: |
5224 |
| Name: |
Rectal abscess |
| Synonym: |
Perirectal abscess |
| Definition: |
A collection of pus in the area of the rectum. |
| Comments: |
|
| Reference: |
HP:0005224 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: | .. Liver abscess (HP:0100523) 
| ..Recurrent cutaneous abscess formation (HP:0100838)
| | 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:0005224 | HP:0005224 | Rectal abscess | 0 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | | | HP:0005224 | HP:0005224 | Rectal abscess | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | | | | 111 | | | | HP:0005224 | HP:0005224 | Rectal abscess | 0 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | | | | 7 | | | | HP:0005224 | HP:0005224 | Rectal abscess | 0 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | . | | | 114 | | | | HP:0005224 | HP:0005224 | Rectal abscess | 0 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | | | HP:0005224 | HP:0005224 | Rectal abscess | 0 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | | | HP:0005224 | HP:0005224 | Rectal abscess | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040283 - Occasional | | | 11 | | | | HP:0005224 | HP:0005224 | Rectal abscess | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:608203 | NEUTROPHIL IMMUNODEFICIENCY SYNDROME | | | | 9 | | | | HP:0005224 | HP:0005224 | Rectal abscess | 0 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040283 - Occasional | | | 26 | | | | HP:0005224 | HP:0005224 | Rectal abscess | 0 | VANGL1 CL E G H | 81839 | 15512 | OMIM:600145 | Sacral defect with anterior meningocele | . | | | 111 | | |
Genes (10) :CYBA CYBB IGHM ITGB2 NCF1 NCF2 PI4KA RAC2 TTC7A VANGL1
Diseases (9) :OMIM:233690 OMIM:306400 OMIM:601495 OMIM:116920 OMIM:233700 OMIM:233710 ORPHA:436252 OMIM:608203 OMIM:600145 |
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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