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 margin neoplasm (HP:0030440)

Term ID:

30440

Name:

Anal margin neoplasm

Synonym:

Definition:

A tumor of the anal margin.

Comments:

Reference:

HP:0030440

Genes and Diseases:

Child Nodes:

........

Anal margin Paget's disease (HP:0030441)

........

Anal margin squamous cell carcinoma (HP:0030442)

........

Anal margin basal cell carcinoma (HP:0030443)

........

Anal margin melanoma (HP:0030444)

Sister Nodes:

Anal atresia (HP:0002023)

Anal canal neoplasm (HP:0030437)

Anal fissure (HP:0012390)

Anal fistula (HP:0010447)

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:0030440	HP:0030440	Anal margin neoplasm	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease		173
HP:0030440	HP:0030440	Anal margin neoplasm	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease		2
HP:0030440	HP:0030440	Anal margin neoplasm	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease		6
HP:0030440	HP:0030440	Anal margin neoplasm	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease		2
HP:0030440	HP:0030444	Anal margin melanoma	1	CL E G H
HP:0030440	HP:0030443	Anal margin basal cell carcinoma	1	CL E G H
HP:0030440	HP:0030441	Anal margin Paget's disease	1	CL E G H
HP:0030440	HP:0030442	Anal margin squamous cell carcinoma	1	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	173
HP:0030440	HP:0030442	Anal margin squamous cell carcinoma	1	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	2
HP:0030440	HP:0030442	Anal margin squamous cell carcinoma	1	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	6
HP:0030440	HP:0030442	Anal margin squamous cell carcinoma	1	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	2

Genes (4) :KRT5 POFUT1 POGLUT1 PSENEN

Diseases (1) :ORPHA:79145

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