Human Phenotype Ontology

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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 stenosis (HP:0002025)

Term ID:

2025

Name:

Anal stenosis

Synonym:

Narrowing of anal opening

Definition:

Abnormal narrowing of the anal opening.

Comments:

Reference:

HP:0002025

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anal atresia (HP:0002023)

Anal canal neoplasm (HP:0030437)

Anal fissure (HP:0012390)

Anal fistula (HP:0010447)

Anal margin neoplasm (HP:0030440)

Anal mucosal leukoplakia (HP:0005212)

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:0002025	HP:0002025	Anal stenosis	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	HP:0040284 - Very rare	34
HP:0002025	HP:0002025	Anal stenosis	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0002025	HP:0002025	Anal stenosis	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0002025	HP:0002025	Anal stenosis	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0002025	HP:0002025	Anal stenosis	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	HP:0040284 - Very rare	2
HP:0002025	HP:0002025	Anal stenosis	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0002025	HP:0002025	Anal stenosis	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0002025	HP:0002025	Anal stenosis	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0002025	HP:0002025	Anal stenosis	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0002025	HP:0002025	Anal stenosis	0	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional	63
HP:0002025	HP:0002025	Anal stenosis	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	353
HP:0002025	HP:0002025	Anal stenosis	0	FREM1 CL E G H	158326	23399	ORPHA:217266	BNAR syndrome	HP:0040281 - Very frequent	198
HP:0002025	HP:0002025	Anal stenosis	0	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome	.	198
HP:0002025	HP:0002025	Anal stenosis	0	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome	HP:0040282 - Frequent	198
HP:0002025	HP:0002025	Anal stenosis	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	263
HP:0002025	HP:0002025	Anal stenosis	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040282 - Frequent	80
HP:0002025	HP:0002025	Anal stenosis	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0002025	HP:0002025	Anal stenosis	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0002025	HP:0002025	Anal stenosis	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0002025	HP:0002025	Anal stenosis	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0002025	HP:0002025	Anal stenosis	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0002025	HP:0002025	Anal stenosis	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0002025	HP:0002025	Anal stenosis	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0002025	HP:0002025	Anal stenosis	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0002025	HP:0002025	Anal stenosis	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0002025	HP:0002025	Anal stenosis	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0002025	HP:0002025	Anal stenosis	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0002025	HP:0002025	Anal stenosis	0	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional	51
HP:0002025	HP:0002025	Anal stenosis	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.	51
HP:0002025	HP:0002025	Anal stenosis	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0002025	HP:0002025	Anal stenosis	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia		37
HP:0002025	HP:0002025	Anal stenosis	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0002025	HP:0002025	Anal stenosis	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0002025	HP:0002025	Anal stenosis	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	.	22
HP:0002025	HP:0002025	Anal stenosis	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	HP:0040283 - Occasional	6
HP:0002025	HP:0002025	Anal stenosis	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0002025	HP:0002025	Anal stenosis	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140

Genes (32) :AMER1 CACNA1C CCNQ CDC45 CDH11 CHD7 DCHS1 FAT4 FERMT1 FOXC1 FRAS1 FREM1 FREM2 GRIP1 KDM6A KMT2D LIG4 MED12 MNX1 NBN NSUN2 PIGN PIGO PITX2 RIPK4 RMRP SALL1 SALL4 SMO SNRPB TBX3 TP63

Diseases (31) :OMIM:300373 OMIM:620029 OMIM:300707 OMIM:617063 OMIM:211380 OMIM:214800 ORPHA:314679 OMIM:173650 ORPHA:782 ORPHA:2052 ORPHA:217266 OMIM:248450 ORPHA:2717 OMIM:147920 ORPHA:235 OMIM:305450 OMIM:176450 OMIM:251260 ORPHA:647 ORPHA:280633 OMIM:614080 OMIM:614749 OMIM:180500 OMIM:263650 OMIM:250250 OMIM:107480 OMIM:607323 OMIM:601707 OMIM:117650 OMIM:181450 OMIM:604292

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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