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)

Parent Node:
Abnormal foot morphology (HP:0001760)

..Starting node
..Structural foot deformity (HP:0010219)

Term ID:

10219

Name:

Structural foot deformity

Synonym:

Definition:

A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies.

Comments:

Reference:

HP:0010219

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal foot bone ossification (HP:0010675)

Abnormal metatarsal morphology (HP:0001832)

Abnormality of dorsoventral patterning of the limbs (HP:0100270)

Abnormality of the Achilles tendon (HP:0005109)

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

Abnormality of the tarsal bones (HP:0001850)

Abnormality of toe (HP:0001780)

Ankylosis of feet small joints (HP:0008090)

Aplasia/Hypoplasia involving bones of the feet (HP:0006494)

Autoamputation of foot (HP:0001868)

Broad foot (HP:0001769)

Duplication involving bones of the feet (HP:0009136)

Equinovarus deformity (HP:0008110)

Foot asymmetry (HP:0010507)

Foot joint contracture (HP:0008366)

Foot osteomyelitis (HP:0001886)

Long foot (HP:0001833)

Medial deviation of the foot (HP:0008082)

Medial rotation of the medial malleolus (HP:0008132)

Narrow foot (HP:0001786)

Osteolysis involving bones of the feet (HP:0009134)

Pes cavus (HP:0001761)

Pes planus (HP:0001763)

Pes valgus (HP:0008081)

Podagra (HP:0001854)

Positional foot deformity (HP:0005656)

Split foot (HP:0001839)

Synostosis involving bones of the feet (HP:0009140)

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:0010219	HP:0010219	Structural foot deformity	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040283 - Occasional	10
HP:0010219	HP:0010219	Structural foot deformity	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0010219	HP:0010219	Structural foot deformity	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent	227
HP:0010219	HP:0010219	Structural foot deformity	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83

Genes (4) :HACE1 LMNA MYH14 ZMPSTE24

Diseases (3) :ORPHA:464282 ORPHA:1662 ORPHA:397744

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

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