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 skin morphology (HP:0011121)

Parent Node:
Regional abnormality of skin (HP:0011356)

..Starting node
..Pretibial myxedema (HP:0200028)

Term ID:

200028

Name:

Pretibial myxedema

Synonym:

Graves dermopathy

Definition:

A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet.

Comments:

Reference:

HP:0200028

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal dermatoglyphics (HP:0007477)

Abnormal skin morphology of the palm (HP:0040211)

Abnormality of the periungual region (HP:0100803)

Abnormality of the plantar skin of foot (HP:0100872)

Cutis gyrata of scalp (HP:0010541)

Palmoplantar pustulosis (HP:0100847)

Pretibial blistering (HP:0012221)

Prominent digit pad (HP:0011298)

Pterygium (HP:0001059)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0200028	HP:0200028	Pretibial myxedema	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	36

Genes (1) :POU1F1

Diseases (1) :OMIM:613038

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