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:
Abnormality of the anus (HP:0004378)

Parent Node:
Anal margin neoplasm (HP:0030440)

..Starting node
..Anal margin basal cell carcinoma (HP:0030443)

Term ID:

30443

Name:

Anal margin basal cell carcinoma

Synonym:

Definition:

A basal cell carcinoma that originates in the anal margin.

Comments:

Reference:

HP:0030443

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anal margin melanoma (HP:0030444)

Anal margin Paget's disease (HP:0030441)

Anal margin squamous cell carcinoma (HP:0030442)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030443	HP:0030443	Anal margin basal cell carcinoma	0	CL E G H

Genes (0) :

Diseases (0) :

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