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Mesoaxial polydactyly
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HP_0100260 |
[The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly.] |
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Foot polydactyly
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HP_0001829 |
[A kind of polydactyly characterized by the presence of a supernumerary toe or toes.] |
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Increased upper to lower segment ratio
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HP_0012774 |
[Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.] |
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Aplasia/Hypoplasia involving the musculature of the extremities
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HP_0009128 |
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Upper limb amyotrophy
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HP_0009129 |
[Muscular atrophy involving the muscles of the upper limbs.] |
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Abnormality of the musculature of the upper limbs
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HP_0001446 |
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Renal steatosis
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HP_0000799 |
[Abnormal fat accumulation in the kidneys.] |
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Cone-shaped epiphysis of the proximal phalanx of the hallux
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HP_0010129 |
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Absent epiphysis of the proximal phalanx of the hallux
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HP_0010127 |
[Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux.] |
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Bracket epiphysis of the proximal phalanx of the hallux
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HP_0010128 |
[The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.] |
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Hypoplasia of the calcaneus
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HP_0012789 |
[Underdevelopment of the heel bone.] |
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Aplasia/Hypoplasia of the tarsal bones
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HP_0008363 |
[Absence or underdevelopment of the tarsal bones.] |
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Synostosis involving bones of the feet
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HP_0009140 |
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Synostosis involving bones of the lower limbs
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HP_0009138 |
[An abnormal union between bones or parts of bones lower limbs.] |
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Depletion of mitochondrial DNA in muscle tissue
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HP_0009141 |
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Muscle abnormality related to mitochondrial dysfunction
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HP_0003800 |
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Mitochondrial depletion
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HP_0030059 |
[An abnormal reduction in mitochondrial DNA content of cells.] |
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Duplication of bones involving the upper extremities
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HP_0009142 |
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Abnormal tarsal bone mineral density
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HP_0009132 |
[This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.] |
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Abnormality of bone mineral density
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HP_0004348 |
[This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.] |