Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Human Phenotype Ontology

Grandparent Node:
Phenotypic abnormality (HP:0000118)

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Parent Node:
Abnormality of limbs (HP:0040064)

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..Starting node
..Abnormality of the lower limb (HP:0002814)

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Term ID:	2814
Name:	Abnormality of the lower limb
Synonym:	Abnormality of the leg; Abnormality of the lower limb; Lower limb deformities
Definition:	An abnormality of the leg.
Comments:
Reference:	HP:0002814
Genes and Diseases:	There are 1170 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Abnormality of the musculature of the lower limbs (HP:0001437) ................... HP:0001430 Abnormality of the calf musculature ................... HP:0001436 Abnormality of the foot musculature ................... HP:0001441 Abnormality of the musculature of the thigh ................... HP:0006895 Lower limb hypertonia ................... HP:0008968 Muscle hypertrophy of the lower extremities ................... HP:0008969 Leg muscle stiffness ................... HP:0008994 Proximal muscle weakness in lower limbs
........Abnormality of the foot (HP:0001760) ................... HP:0001761 Pes cavus ................... HP:0001763 Pes planus ................... HP:0001769 Broad foot ................... HP:0001780 Abnormality of toe ................... HP:0001786 Narrow foot ................... HP:0001832 Abnormal metatarsal morphology ................... HP:0001833 Long foot ................... HP:0001839 Split foot ................... HP:0001850 Abnormality of the tarsal bones ................... HP:0001854 Podagra ................... HP:0001868 Autoamputation of foot ................... HP:0001886 Foot osteomyelitis ................... HP:0005109 Abnormality of the Achilles tendon ................... HP:0005656 Positional foot deformity ................... HP:0006494 Aplasia/Hypoplasia involving bones of the feet ................... HP:0008081 Pes valgus ................... HP:0008082 Medial deviation of the foot ................... HP:0008090 Ankylosis of feet small joints ................... HP:0008110 Equinovarus deformity ................... HP:0008132 Medial rotation of the medial malleolus ................... HP:0008366 Contractures involving the joints of the feet ................... HP:0009134 Osteolysis involving bones of the feet ................... HP:0009136 Duplication involving bones of the feet ................... HP:0009140 Synostosis involving bones of the feet ................... HP:0010219 Structural foot deformity ................... HP:0010507 Foot asymmetry ................... HP:0010675 Abnormal foot bone ossification ................... HP:0100270 Abnormality of dorsoventral patterning of the limbs ................... HP:0100872 Abnormality of the plantar skin of foot
........Areflexia of lower limbs (HP:0002522) ................... HP:0006844 Absent patellar reflexes ................... HP:0200101 Decreased/absent ankle reflexes
........Hyporeflexia of lower limbs (HP:0002600) ................... HP:0009072 Decreased Achilles reflex ................... HP:0011808 Decreased patellar reflex
........Abnormality of the calf (HP:0002981) ................... HP:0002979 Bowing of the legs ................... HP:0002991 Abnormality of fibula morphology ................... HP:0002992 Abnormality of tibia morphology
........Externally rotated/abducted legs (HP:0003783) ................... HP:0008796 Externally rotated hips
........Rickets of the lower limbs (HP:0006463)
........Abnormality of lower-limb metaphyses (HP:0006490) ................... HP:0006489 Abnormality of the femoral metaphysis ................... HP:0006491 Abnormality of the tibial metaphysis
........Abnormality of lower limb epiphysis morphology (HP:0006500) ................... HP:0006499 Abnormality of femoral epiphysis ................... HP:0006508 Abnormality of tibial epiphyses ................... HP:0010593 Abnormality of fibular epiphyses ................... HP:0010631 Abnormality of the epiphyses of the feet
........Distal lower limb muscle weakness (HP:0009053) ................... HP:0008963 Tibialis muscle weakness ................... HP:0011727 Peroneal muscle weakness
........Amniotic constriction rings of legs (HP:0010495)
........Hypertrophy of the lower limb (HP:0010496) ................... HP:0100553 Hemihypertrophy of lower limb
........Sirenomelia (HP:0010497)
........Edema of the lower limbs (HP:0010741)
........Abnormality of lower limb bone (HP:0040069) ................... HP:0001832 Abnormal metatarsal morphology ................... HP:0001850 Abnormality of the tarsal bones ................... HP:0006493 Aplasia/hypoplasia involving bones of the lower limbs ................... HP:0009136 Duplication involving bones of the feet ................... HP:0009138 Synostosis involving bones of the lower limbs ................... HP:0009139 Osteolysis involving bones of the lower limbs ................... HP:0040066 Abnormal morphology of bones of the lower limbs
........Abnormality of lower limb joint (HP:0100491) ................... HP:0001384 Abnormality of the hip joint ................... HP:0002815 Abnormality of the knee ................... HP:0003028 Abnormality of the ankles ................... HP:0009138 Synostosis involving bones of the lower limbs ................... HP:0100492 Joint contractures involving the joints of the feet
........Lower limb asymmetry (HP:0100559) ................... HP:0100553 Hemihypertrophy of lower limb ................... HP:0100557 Hemiatrophy of lower limb
Sister Nodes:
..Abnormality of limb bone (HP:0040068)
..Abnormality of the musculature of the limbs (HP:0009127)
..Abnormality of the upper limb (HP:0002817)
..Aplasia/hypoplasia of the extremities (HP:0009815)
..Autoamputation (HP:0001218)
..Hemihypertrophy (HP:0001528)
..Limb fasciculations (HP:0007289)
Genes (0) : Diseases (0) :
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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