Phenotypes associated with the disease inflammatory bowel disease 25 (OMIM:612567):
- Rectovaginal fistula (HP:0000143): The presence of a fistula between the vagina and the rectum. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:19890111)
- Enterocolitis (HP:0004387): An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine). Evidence: PCS. Frequency: 2/2. Onset: Infantile onset (HP:0003593). (PMID:19890111)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 3/3. (PMID:21519361;PMID:19890111)
- Enterocutaneous fistula (HP:0033279): An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin. Evidence: PCS. Frequency: 1/2. (PMID:19890111)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:19890111)
- Pancolitis (HP:0033256): Inflammation of the entire colon. Evidence: PCS. Frequency: 1/1. (PMID:21519361)
- Recurrent bronchitis (HP:0002837): An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. Evidence: PCS. Frequency: 1/1. (PMID:21519361)
- Perianal abscess (HP:0009789): The presence of an abscess located around the anus. Evidence: PCS. Frequency: 1/2. Onset: Infantile onset (HP:0003593). (PMID:19890111)
- Folliculitis (HP:0025084): Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule. Evidence: PCS. Frequency: 2/2. Onset: Infantile onset (HP:0003593). (PMID:19890111)
- Folliculitis (HP:0025084): Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule. Evidence: PCS. Frequency: 1/1. (PMID:21519361)