| 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:0000135 | Hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators] |
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| HP:0000144 | Decreased fertility | |
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| HP:0000275 | Narrow face | |
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| HP:0000444 | Beaked nose | |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000546 | Retinal degeneration | |
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| HP:0000765 | Abnormality of the thorax | "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:curators] |
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| HP:0000819 | Diabetes mellitus | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000855 | Insulin resistance | |
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| HP:0000869 | Secondary amenorrhea | |
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| HP:0000934 | Chondrocalcinosis | |
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| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
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| HP:0000962 | Hyperkeratosis | "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators] |
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| HP:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
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| HP:0001533 | Asthenic habitus | "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [HPO:curators] |
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| HP:0001595 | Hair abnormality | |
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| HP:0001601 | Laryngomalacia | |
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| HP:0001608 | Abnormality of the voice | "Any abnormality of the voice." [HPO:curators] |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001658 | Myocardial infarction | |
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| HP:0001838 | Vertical talus | |
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| HP:0002209 | Sparse scalp hair | "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson] |
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| HP:0002211 | White forelock | |
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| HP:0002216 | Premature graying of hair | |
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| HP:0002621 | Atherosclerosis | "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow." [HPO:curators] |
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| HP:0002669 | Osteogenic sarcoma | |
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| HP:0002672 | Gastrointestinal carcinoma | |
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| HP:0002858 | Meningioma | |
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| HP:0002860 | Squamous cell carcinoma | |
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| HP:0002890 | Thyroid carcinoma | |
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| HP:0003002 | Breast cancer | |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003777 | Pili torti | "Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope." [HPO:curators] |
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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:0004415 | Pulmonary artery stenosis | |
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| HP:0005177 | Premature arteriosclerosis | |
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| HP:0005268 | Increased risk of spontaneous abortion | |
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| HP:0005328 | Progeroid facial appearance | |
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| HP:0005978 | Noninsulin-dependent diabetes mellitus | |
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| HP:0007618 | Subcutaneous calcification | |
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| HP:0007703 | Abnormal retinal pigmentation | |
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| HP:0008065 | Aplasia/Hypoplasia of the skin | |
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| HP:0009726 | Renal neoplasia | "Tumors, malignant or benign, originating in the kidney." [HPO:curators] |
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| HP:0010468 | Aplasia/Hypoplasia of the testes | "Absence or underdevelopment of the testes." [HPO:curators] |
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| HP:0010721 | Abnormal hair whorl | "An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair)." [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:0012060 | Acral lentiginous melanoma | "A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed." [HPO:probinson] |
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| HP:0100242 | Sarcoma | "The presence of a `sarcoma` (MPATH:551)." [HPO:sdoelken] |
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| HP:0100526 | Neoplasia of the lungs | |
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| HP:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
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| HP:0100585 | Teleangiectasia of the skin | |
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| HP:0100615 | Ovarian neoplasm | "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson] |
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| HP:0100649 | Neoplasia of the oral cavity | |
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| HP:0100659 | Abnormality of the cerebral vasculature | |
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| HP:0100679 | Lack of skin elasticity | |
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| HP:0100833 | Neoplasm of the small intestine | "The presence of a `neoplasm` (MPATH:218) of the small intestine." [HPO:probinson] |
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| HP:0200042 | skin ulcer | "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER] |
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| HP:0200055 | Small hands | |
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