All terms in HP
| Label | Id | Description |
|---|---|---|
| Depletion of mitochondrial DNA in muscle tissue | HP_0009141 | |
| Muscle abnormality related to mitochondrial dysfunction | HP_0003800 | |
| Duplication of bones involving the upper extremities | HP_0009142 | |
| Abnormal tarsal bone mineral density | 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.] |
| Abnormality of bone mineral density | 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.] |
| Abnormality of the tarsal bones | HP_0001850 | [An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.] |
| Perinephritis | HP_0012784 | [Inflammation of the connective and adipose tissues surrounding the kidney.] |
| Intralobar nephrogenic rest | HP_0012783 | [A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls.] |
| Perilobar nephrogenic rest | HP_0012782 | [A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe.] |
| Osteolysis involving bones of the lower limbs | HP_0009139 | |
| Mid-frequency hearing loss | HP_0012781 | [A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).] |
| Duplication involving bones of the feet | HP_0009136 | |
| Abnormality of metatarsal epiphysis | HP_0010630 | [Any abnormality of a metatarsal bone epiphysis.] |
| Reticulate pigmentation of oral mucosa | HP_0012788 | [A net-like pattern of increased pigmentation of the oral cavity.] |
| Recurrent pyelonephritis | HP_0012787 | [Repeated episodes of pyelonephritis.] |
| Abnormal morphology of the proximal phalanx of the hallux | HP_0010052 | [An abnormal shape or form of the proximal phalanx of the big toe.] |
| Recurrent cystitis | HP_0012786 | [Repeated infections of the urinary bladder.] |
| Joint contracture of the hand | HP_0009473 | [Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.] |
| arch of centrum of vertebra | UBERON_0010358 | [An arch-shaped structure of the vertebra that extends dorsally (neural arch) or ventrally (hemal arch) from the vertebral centrum] |
| vertebra | UBERON_0002412 | [The ossified form of a vertebral element, a skeletal element that forms around the notochord and is part of the vertebral column.] |