| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| 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:0000065 | Labial hypertrophy | |
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| HP:0000083 | Renal failure | |
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| HP:0000098 | Increased body height | |
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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:0000141 | Amenorrhea | |
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| HP:0000144 | Decreased fertility | |
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| HP:0000147 | polycystic ovaries | |
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| HP:0000163 | Abnormality of the oral cavity | "Abnormality of the opening or hollow part of the mouth." [HPO:curators] |
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| HP:0000280 | Coarse facial features | |
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| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
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| HP:0000325 | Triangular facies | |
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| HP:0000336 | Prominent supraorbital ridges | "Abnormal prominence of the supraorbital ridges, which are bony ridge located above the eye sockets in the area of the eyebrows." [HPO:curators] |
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| HP:0000400 | Large ears | |
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| HP:0000750 | Impaired language development | |
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| HP:0000752 | Hyperactivity | |
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| HP:0000787 | Kidney stones | |
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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:0000826 | Precocious puberty | "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:curators] |
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| HP:0000842 | Hyperinsulinemia | |
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| HP:0000845 | Acromegaly | "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness." [HPO:curators] |
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| HP:0000855 | Insulin resistance | |
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| HP:0000868 | Decreased fertility in females | |
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| HP:0000876 | Oligomenorrhea | |
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| HP:0000877 | Insulin-resistant diabetes mellitus at puberty | |
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| HP:0000956 | Acanthosis nigricans | |
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| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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| HP:0001000 | Abnormality of skin pigmentation | |
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| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
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| HP:0001171 | Ectrodactyly (hands) | |
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| HP:0001176 | Large hands | |
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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:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
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| HP:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
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| HP:0001258 | Spastic paraplegia | |
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| HP:0001268 | Mental deterioration | |
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| HP:0001298 | Encephalopathy | |
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| HP:0001332 | Dystonia | "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators] |
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| HP:0001336 | Myoclonus | "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001348 | Brisk reflexes | |
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| HP:0001394 | Cirrhosis | |
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| HP:0001397 | Hepatic steatosis | |
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| HP:0001399 | Hepatic failure | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001537 | Umbilical hernia | "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators] |
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| HP:0001544 | Prominent umbilicus | "Abnormally prominent umbilicus (belly button)." [HPO:curators] |
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| HP:0001620 | High pitched voice | |
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| HP:0001639 | Hypertrophic cardiomyopathy | |
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| HP:0001658 | Myocardial infarction | |
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| HP:0001733 | Pancreatitis | |
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| HP:0001735 | Pancreatitis, acute | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001761 | Pes cavus | |
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| HP:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] |
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| HP:0001765 | Hammer toes | |
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| HP:0001769 | Broad feet | "Increased width of the feet." [HPO:curators] |
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| HP:0001833 | Large feet | |
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| HP:0002059 | Cerebral atrophy | |
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| HP:0002061 | Lower limb spasticity | |
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| HP:0002064 | Spastic gait | |
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| HP:0002066 | Gait ataxia | "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators] |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002133 | Status epilepticus | |
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| HP:0002155 | Hypertriglyceridemia | |
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| HP:0002166 | Decreased vibratory sense in the lower limbs | "A decrease in the ability to perceive vibration in the legs." [HPO:curators] |
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| HP:0002174 | Postural tremor | "A type of tremors that is triggered by holding a limb in a fixed position." [HPO:curators] |
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| HP:0002230 | Generalized hirsutism | "Abnormally increased hair growth over much of the entire body." [HPO:curators] |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002273 | Tetraparesis | |
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| HP:0002275 | Poor motor coordination | |
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| HP:0002340 | Caudate atrophy | |
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| HP:0002360 | Sleep disturbances | "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] |
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| HP:0002371 | Loss of speech | |
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| HP:0002376 | Developmental regression | |
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| HP:0002448 | Encephalopathy, progressive | |
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| HP:0002451 | Limb dystonia | |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002529 | Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum | |
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| HP:0002591 | Polyphagia | |
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| HP:0002721 | Immunodeficiency | |
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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:0002833 | Lytic cystic lesions in appendicular bones (occurs after puberty) | |
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| HP:0002878 | Early respiratory failure | |
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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:0002936 | Distal sensory impairment | |
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| HP:0003198 | Myopathy | |
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| HP:0003292 | Decreased serum leptin | |
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| HP:0003392 | First dorsal interossei muscle weakness | |
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| HP:0003393 | Thenar muscle atrophy | |
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| HP:0003426 | First dorsal interossei muscle atrophy | |
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| HP:0003427 | Thenar muscle weakness | |
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| HP:0003435 | Cold-induced hand cramps | |
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| HP:0003484 | Upper limb involvement may occur later | |
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| HP:0003487 | Babinski sign | "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators] |
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| HP:0003577 | Onset at birth | |
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| HP:0003674 | Age of onset | |
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| HP:0003676 | Progressive disorder | |
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| HP:0003677 | Slow progression | |
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| HP:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
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| HP:0003712 | Muscle hypertrophy | "Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells)." [HPO:curators] |
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| HP:0003716 | Generalized muscular appearance from birth | |
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| HP:0003758 | Reduced subcutaneous adipose tissue | "The presence of an abnormally reduced amount of subcutaneous adipose tissue." [HPO:curators] |
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| HP:0003809 | Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) | |
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| HP:0005616 | Accelerated skeletal maturation | "An abnormally increased rate of skeletal maturation. Accelerated 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:0007256 | Mild pyramidal signs | |
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| HP:0007272 | Progressive psychomotor deterioration | |
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| HP:0007340 | Lower limb muscle weakness | "Weakness of the muscles of the legs." [HPO:curators] |
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| HP:0008665 | Hypertrophic clitoris | |
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| HP:0009027 | Foot dorsiflexor weakness | |
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| HP:0009064 | Generalized lipodystrophy | "Generalized degenerative changes of the fat tissue." [HPO:curators] |
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| HP:0009125 | Lipodystrophy | "Degenerative changes of the fat tissue." [HPO:curators] |
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| HP:0009130 | Amyotrophy involving the musculature of the hand | "Muscular atrophy involving the muscles of the hand." [HPO:curators] |
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| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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| HP:0012062 | Bone cyst | "A fluid filled cavity that develops with a bone." [HPO:probinson] |
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| HP:0025128 | Reduced intraabdominal adipose tissue | "An abnormally reduced amount of adipose tissue in the abdominal cavity." [] |
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| HP:0030237 | Hand muscle weakness | "Reduced strength of the musculature of the hand." [HPO:probinson] |
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| HP:0030838 | Hip pain | "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip." [UToronto:chum] |
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| HP:0030839 | Knee pain | "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee." [UToronto:chum] |
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| HP:0031374 | Ankle weakness | "Reduced strength of the muscles that lift or otherwise move the foot at the ankle." [] |
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| HP:0040131 | Abnormal motor nerve conduction velocity | |
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| HP:0100545 | Arterial stenosis | |
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| HP:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
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| HP:0100820 | Glomerulopathy | "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken] |
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