Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Anorectal anomaly (HP:0012732)

Parent Node:
Abnormality of the anus (HP:0004378)

..Starting node
..Anal fissure (HP:0012390)

Term ID:

12390

Name:

Anal fissure

Synonym:

Anal erosion

Definition:

A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus.

Comments:

Reference:

HP:0012390

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anal atresia (HP:0002023)

Anal canal neoplasm (HP:0030437)

Anal fistula (HP:0010447)

Anal margin neoplasm (HP:0030440)

Anal mucosal leukoplakia (HP:0005212)

Anal stenosis (HP:0002025)

Ectopic anus (HP:0004397)

Perianal abscess (HP:0009789)

Perianal dermatitis (HP:0011131)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012390	HP:0012390	Anal fissure	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	2
HP:0012390	HP:0012390	Anal fissure	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional	263
HP:0012390	HP:0012390	Anal fissure	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0012390	HP:0012390	Anal fissure	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0012390	HP:0012390	Anal fissure	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	257
HP:0012390	HP:0012390	Anal fissure	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6

Genes (5) :ADAM17 COL7A1 CYBC1 EGFR MMP1

Diseases (4) :ORPHA:294023 ORPHA:89842 ORPHA:79408 OMIM:618935

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