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 lower limb joint (HP:0100491)

Parent Node:
Abnormality of the knee (HP:0002815)

..Starting node
..Large knee (HP:0030866)

Term ID:

30866

Name:

Large knee

Synonym:

Definition:

Abnormally increased size of the knee joint.

Comments:

Reference:

HP:0030866

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal patella morphology (HP:0003045)

Absent knee epiphyses (HP:0006400)

Ankle clonus (HP:0011448)

Flattened knee epiphyses (HP:0005715)

Genu valgum (HP:0002857)

Genu varum (HP:0002970)

Hyperextensibility of the knee (HP:0010500)

Knee dislocation (HP:0004976)

Knee flexion contracture (HP:0006380)

Knee osteoarthritis (HP:0005086)

Limitation of knee mobility (HP:0010501)

Limited knee extension (HP:0003066)

Limited knee flexion (HP:0006389)

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:0030866	HP:0030866	Large knee	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent	60
HP:0030866	HP:0030866	Large knee	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0030866	HP:0030866	Large knee	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2

Genes (3) :AIFM1 IDH1 MIA3

Diseases (3) :ORPHA:83629 ORPHA:99646 OMIM:619269

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