| 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:0000083 | Renal failure | |
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| HP:0000112 | Nephropathy | "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] |
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| HP:0000124 | Renal tubular dysfunction | |
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| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| HP:0000233 | Thin vermillion border | |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000325 | Triangular facies | |
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| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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| HP:0000540 | Hypermetropia | |
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| HP:0000582 | Upslanting palpebral fissures | |
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| HP:0000691 | Microdontia | |
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| HP:0000821 | Hypothyroidism | |
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| HP:0000831 | Insulin-resistant diabetes mellitus | |
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| HP:0000926 | Platyspondyly | |
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| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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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:0000944 | Abnormality of the metaphyses | |
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| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| HP:0001156 | Brachydactyly | |
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| HP:0001249 | Mental retardation | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001259 | Coma | |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001270 | Motor retardation | |
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| HP:0001276 | Hypertonia | |
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| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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| HP:0001498 | Carpal bone hypoplasia | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0001522 | Death in infancy | |
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| HP:0001552 | Barrel-shaped chest | |
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| HP:0001627 | Cardiac abnormality | "An abnormality of the `heart` (FMA:7088)." [HPO:probinson] |
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| HP:0001738 | Exocrine pancreatic insufficiency | |
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| HP:0001824 | Weight loss | |
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| HP:0001875 | Neutropenia | |
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| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| HP:0001944 | Dehydration | |
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| HP:0001993 | Ketoacidosis | |
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| HP:0002149 | Hyperuricemia | "An abnormally high level of uric acid in the blood." [HPO:curators] |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002269 | Neuronal migration disorder | |
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| HP:0002570 | Steatorrhea | |
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| HP:0002594 | Pancreatic hypoplasia | |
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| HP:0002654 | Multiple epiphyseal dysplasia | |
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| HP:0002656 | Epiphyseal dysplasia | |
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| HP:0002673 | Coxa valga | "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:curators] |
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| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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| HP:0002808 | Kyphosis | |
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| HP:0002827 | Dislocated hips | |
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| HP:0002857 | Genu valgum | |
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| HP:0002868 | Narrow iliac wings | |
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| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
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| HP:0003071 | Flattened epiphyses | |
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| HP:0003074 | Hyperglycemia | |
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| HP:0003076 | Glycosuria | "The excretion of abnormal amounts of glucose in the urine, generally resulting in osmotic diuresis." [HPO:curators] |
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| HP:0003301 | Irregular vertebral endplates | "An irregular surface of the vertebral end plates, which are normally relatively smooth." [HPO:curators] |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003311 | Hypoplastic odontoid process | |
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| HP:0003593 | Early onset | |
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| HP:0004236 | Irregular carpal bones | |
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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:0004467 | Preauricular sinus | "The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix." [HPO:curators] |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0006110 | Disproportionately short middle phalanges | |
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| HP:0006274 | Reduced pancreatic beta cells | |
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| HP:0006554 | Acute hepatic failure | "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver." [HPO:curators] |
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| HP:0007229 | Intracerebral periventricular calcifications | |
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| HP:0008134 | Defective, irregular tarsal ossification | |
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| HP:0008255 | Transient neonatal diabetes mellitus | |
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| HP:0010168 | Ivory epiphyses of the toes | |
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| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | "A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a ball-in-a-socket appearance. The related entity angel-shaped epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] |
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| HP:0010234 | Ivory epiphyses of the phalanges of the hand | "Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] |
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| HP:0010306 | Short thorax | "Reduced inferior to superior extent of the thorax." [HPO:curators] |
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| HP:0010585 | Small epiphyses | |
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| HP:0030043 | Hip Subluxation | "A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket." [] |
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| HP:0100625 | Enlarged thorax | |
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| HP:0100626 | Chronic hepatic failure | |
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| HP:0100651 | Diabetes mellitus Type I | |
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