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 limbs (HP:0040064)

Parent Node:
Abnormality of the lower limb (HP:0002814)

..Starting node
..Hypertrophy of the lower limb (HP:0010496)

Term ID:

10496

Name:

Hypertrophy of the lower limb

Synonym:

Definition:

Abnormal increase in size of the lower limbs (due to an increase of the size of cells).

Comments:

Reference:

HP:0010496

Genes and Diseases:

Child Nodes:

........

Hemihypertrophy of lower limb (HP:0100553)

Sister Nodes:

Abnormal foot morphology (HP:0001760)

Abnormal lower limb bone morphology (HP:0040069)

Abnormal lower-limb metaphysis morphology (HP:0006490)

Abnormality of lower limb epiphysis morphology (HP:0006500)

Abnormality of lower limb joint (HP:0100491)

Abnormality of the calf (HP:0002981)

Abnormality of the musculature of the lower limbs (HP:0001437)

Amniotic constriction rings of legs (HP:0010495)

Areflexia of lower limbs (HP:0002522)

Distal lower limb muscle weakness (HP:0009053)

Hyporeflexia of lower limbs (HP:0002600)

Lower limb asymmetry (HP:0100559)

obsolete Externally rotated/abducted legs (HP:0003783)

Pedal edema (HP:0010741)

Rickets of the lower limbs (HP:0006463)

Sirenomelia (HP:0010497)

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:0010496	HP:0010496	Hypertrophy of the lower limb	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0010496	HP:0100553	Hemihypertrophy of lower limb	1	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.