| 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:0000093 | Proteinuria | |
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| HP:0000969 | Edema | "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators] |
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| HP:0001061 | Acne | |
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| HP:0001371 | Contractures | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001510 | Growth retardation | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001935 | Microcytic anemia | |
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| HP:0001945 | Fever | |
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| HP:0001954 | Fever, episodic | "Periodic (episodic or recurrent) bouts of fever that do not have an infectious cause." [HPO:curators] |
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| HP:0001974 | Leukocytosis | "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson] |
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| HP:0002024 | Malabsorption | |
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| HP:0002113 | Pulmonary infiltrates | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
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| HP:0002653 | Bone pain | |
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| HP:0002659 | Increased susceptibility to fractures | "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken] |
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| HP:0002754 | Osteomyelitis | |
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| HP:0002829 | Arthralgia | |
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| HP:0002907 | Microscopic hematuria | |
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| HP:0003025 | Irregular metaphyses | |
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| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| HP:0004326 | Cachexia | |
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| HP:0004810 | congenital hypoplastic anemia | |
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| HP:0004840 | hypochromic, microcytic anemia | |
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| HP:0005561 | Generalized abnormality of the bone marrow | |
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| HP:0005901 | Chronic recurrent multifocal osteomyelitis | |
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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:0011123 | Inflammatory abnormality of the skin | "The presence of `inflammation` (MPATH:212) of the `skin` (FMA:7163). That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes." [HPO:probinson] |
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| HP:0012735 | Cough | "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson] |
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| HP:0100769 | Synovitis | |
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| HP:0100820 | Glomerulopathy | "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken] |
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| HP:0200034 | skin papules | "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER] |
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| HP:0200039 | skin pustule | "A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells." [HPO:SKOEHLER] |
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