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:
Abnormal cheek morphology (HP:0004426)

Parent Node:
Abnormal buccal mucosa cell morphology (HP:0031476)

Parent Node:
Abnormal buccal mucosa morphology (HP:3000019)

..Starting node
..Abnormal distribution of cell junction proteins in buccal mucosal cells (HP:0410023)

Term ID:

410023

Name:

Abnormal distribution of cell junction proteins in buccal mucosal cells

Synonym:

Definition:

An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43.

Comments:

Reference:

HP:0410023

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0410023	HP:0410023	Abnormal distribution of cell junction proteins in buccal mucosal cells	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.