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 lower limb (HP:0002814)

Grandparent Node:
Asymmetric growth (HP:0100555)

Parent Node:
Hemihypertrophy (HP:0001528)

Parent Node:
Hypertrophy of the lower limb (HP:0010496)

Parent Node:
Lower limb asymmetry (HP:0100559)

..Starting node
..Hemihypertrophy of lower limb (HP:0100553)

Term ID:

100553

Name:

Hemihypertrophy of lower limb

Synonym:

Overgrowth of one leg

Definition:

Overgrowth of only one leg.

Comments:

Reference:

HP:0100553

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hemiatrophy of lower limb (HP:0100557)

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:0100553	HP:0100553	Hemihypertrophy of lower limb	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040282 - Frequent	88

Genes (1) :RASA1

Diseases (1) :ORPHA:90307

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