| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000117 | Decreased renal tubular phosphate reabsorption | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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| HP:0001363 | Craniosynostosis | "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators] |
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| HP:0002024 | Malabsorption | |
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| HP:0002148 | Hypophosphatemia | "A lower than normal level of blood phosphate." [HPO:curators] |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002653 | Bone pain | |
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| HP:0002748 | Rickets | |
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| HP:0002749 | Osteomalacia | "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators] |
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| HP:0002812 | Coxa vara | |
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| HP:0002970 | Genu varum | |
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| HP:0002982 | Tibial bowing | "A developmental defect with posteromedial tibial angulation." [HPO:curators] |
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| HP:0003020 | Enlargement of the wrists | |
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| HP:0003109 | Hyperphosphaturia | "An increased excretion of phosphates in the urine." [HPO:curators] |
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| HP:0003416 | Spinal canal stenosis | |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0004576 | Sclerotic vertebral endplates | "Sclerosis (increased density) affecting vertebral end plates." [HPO:curators] |
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| HP:0004912 | hypophosphatemic rickets | |
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| HP:0005096 | distal femoral bowing | |
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| HP:0005764 | Polyarticular arthritis | |
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| HP:0006463 | Rickets of the lower limbs | |
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| HP:0008732 | Renal hypophosphatemia | |
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| HP:0010639 | Elevated alkaline phosphatase of bone origin | "An abnormally increased level of bone isoforms of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." [HPO:probinson] |
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| HP:0011001 | Increased bone mineral density | "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." [HPO:curators] |
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| HP:0011036 | Abnormality of renal excretion | "An altered ability of the kidneys to void urine and/or specific substances." [HPO:probinson] |
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| HP:0012052 | Low serum calcitriol (1,25-dihydroxycholecalciferol) | "A reduced concentration of `calcitriol` (CHEBI:17823) in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3." [HPO:probinson] |
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| HP:0030757 | Tooth abscess | "A pocket of pus located within a region of a tooth." [HPO:probinson] |
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| HP:0100036 | Pseudo-fractures | "A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. The formation of callouses in the affected area is common and gives the appearance of a false fracture." [HPO:sdoelken] |
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| HP:0100559 | Lower limb asymmetry | |
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| HP:0100671 | Abnormality of bone trabeculation | |
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| HP:0100686 | Enthesitis | |
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| HP:0100781 | Abnormality of the sacroiliac joint | |
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