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

Human Phenotype Ontology

Grandparent Node:
Abnormality of limbs (HP:0040064)

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Grandparent Node:
Abnormality of the skeletal system (HP:0000924)

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Parent Node:
Abnormal appendicular skeleton morphology (HP:0011844)

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Parent Node:
Abnormality of limb bone (HP:0040068)

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..Starting node
..Abnormality of limb bone morphology (HP:0002813)

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Term ID:	2813
Name:	Abnormality of limb bone morphology
Synonym:	Abnormal shape of limb bone; Arm and/or leg bone differences; Limb abnormality
Definition:	Any abnormality of bones of the arms or legs.
Comments:
Reference:	HP:0002813
Genes and Diseases:	There are 2365 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Abnormality of the metaphysis (HP:0000944) ................... HP:0002810 Dumbbell-shaped metaphyses ................... HP:0003016 Metaphyseal widening ................... HP:0003021 Metaphyseal cupping ................... HP:0003025 Metaphyseal irregularity ................... HP:0003051 Enlarged metaphyses ................... HP:0003562 Abnormal metaphyseal vascular invasion ................... HP:0003908 Corner fracture of metaphysis ................... HP:0004979 Metaphyseal sclerosis ................... HP:0004980 Metaphyseal rarefaction ................... HP:0005054 Metaphyseal spurs ................... HP:0005089 Abnormal metaphyseal trabeculation ................... HP:0005868 Metaphyseal enchondromatosis ................... HP:0005899 Metaphyseal dysostosis ................... HP:0006490 Abnormality of lower-limb metaphyses ................... HP:0009809 Abnormality of upper limb metaphysis ................... HP:0031016 Alternating radiolucent and radiodense metaphyseal lines ................... HP:0031367 Metaphyseal striations ................... HP:0100255 Metaphyseal dysplasia ................... HP:0100959 Dense metaphyseal bands
........Subperiosteal bone resorption (HP:0003106)
........Anomaly of the limb diaphyses (HP:0006504) ................... HP:0006371 Broad long bone diaphyses ................... HP:0006440 Increased density of long bone diaphyses ................... HP:0006470 Thin long bone diaphyses ................... HP:0006487 Bowing of the long bones ................... HP:0009808 Anomaly of the upper limb diaphyses ................... HP:0012699 Anomaly of lower limb diaphyses
........Abnormality of limb epiphysis morphology (HP:0006505) ................... HP:0003839 Abnormality of upper limb epiphysis morphology ................... HP:0006500 Abnormality of lower limb epiphysis morphology
........Abnormality of digit (HP:0011297) ................... HP:0001159 Syndactyly ................... HP:0001167 Abnormality of finger ................... HP:0001217 Clubbing ................... HP:0001780 Abnormality of toe ................... HP:0004099 Macrodactyly ................... HP:0006009 Broad phalanx ................... HP:0010442 Polydactyly ................... HP:0011927 Short digit ................... HP:0012165 Oligodactyly ................... HP:0030084 Clinodactyly
........Absent ray (HP:0030030)
........Acromicria (HP:0031878)
........Abnormal morphology of bones of the upper limbs (HP:0040065) ................... HP:0003957 Cortical thickening of the forearm bones ................... HP:0005916 Abnormal metacarpal morphology ................... HP:0009768 Broad phalanges of the hand ................... HP:0009821 Forearm undergrowth ................... HP:0031095 Abnormal humerus morphology ................... HP:0040073 Abnormal forearm bone morphology
........Abnormal morphology of bones of the lower limbs (HP:0040066) ................... HP:0002823 Abnormality of femur morphology ................... HP:0002991 Abnormality of fibula morphology ................... HP:0002992 Abnormality of tibia morphology ................... HP:0010174 Broad phalanx of the toes ................... HP:0010743 Short metatarsal
........Aplasia/hypoplasia involving bones of the extremities (HP:0045060) ................... HP:0006493 Aplasia/hypoplasia involving bones of the lower limbs ................... HP:0006496 Aplasia/hypoplasia involving bones of the upper limbs ................... HP:0009825 Aplasia involving bones of the extremities
........Ectrodactyly (HP:0100257) ................... HP:0001171 Split hand ................... HP:0001839 Split foot
........Limb duplication (HP:0100524)
........Abnormality of radial ray (HP:0410049)
Sister Nodes:
..Abnormal lower limb bone morphology (HP:0040069)
..Abnormal upper limb bone morphology (HP:0040070)
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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