{'id': 'HP_0003124', 'url': 'http://purl.obolibrary.org/obo/HP_0003124', 'lbl': 'Hypercholesterolemia', 'desc': 'label: Hypercholesterolemia\ndefinition : An increased concentration of cholesterol in the blood.\nsynonyms :High cholesterol; Elevated serum cholesterol; Elevated total cholesterol; Increased total cholesterol\n'}


{'id': 'HP_0003125', 'url': 'http://purl.obolibrary.org/obo/HP_0003125', 'lbl': 'Reduced factor VIII activity', 'desc': 'label: Reduced factor VIII activity\ndefinition : Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.\nsynonyms :Factor VIII deficiency\n'}


{'id': 'HP_0003126', 'url': 'http://purl.obolibrary.org/obo/HP_0003126', 'lbl': 'Low-molecular-weight proteinuria', 'desc': 'label: Low-molecular-weight proteinuria\ndefinition : Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).\nsynonyms :Tubular proteinuria\n'}


{'id': 'HP_0003127', 'url': 'http://purl.obolibrary.org/obo/HP_0003127', 'lbl': 'Hypocalciuria', 'desc': 'label: Hypocalciuria\ndefinition : An abnormally decreased calcium concentration in the urine.\nsynonyms :Low urine calcium levels\n'}


{'id': 'HP_0003128', 'url': 'http://purl.obolibrary.org/obo/HP_0003128', 'lbl': 'Lactic acidosis', 'desc': 'label: Lactic acidosis\ndefinition : An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.\nsynonyms :Hyperlacticacidemia; Increased lactate in body; Lactic acidemia; Lacticacidemia; Lacticacidosis\n'}


{'id': 'HP_0003130', 'url': 'http://purl.obolibrary.org/obo/HP_0003130', 'lbl': 'Abnormal peripheral myelination', 'desc': 'label: Abnormal peripheral myelination\ndefinition : An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.\nsynonyms :\n'}


{'id': 'HP_0003131', 'url': 'http://purl.obolibrary.org/obo/HP_0003131', 'lbl': 'Cystinuria', 'desc': 'label: Cystinuria\ndefinition : An increased concentration of cystine in the urine.\nsynonyms :High urine cystine levels\n'}


{'id': 'HP_0003133', 'url': 'http://purl.obolibrary.org/obo/HP_0003133', 'lbl': 'Abnormality of the spinocerebellar tracts', 'desc': 'label: Abnormality of the spinocerebellar tracts\ndefinition : An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.\nsynonyms :\n'}


{'id': 'HP_0003134', 'url': 'http://purl.obolibrary.org/obo/HP_0003134', 'lbl': 'Abnormality of peripheral nerve conduction', 'desc': 'label: Abnormality of peripheral nerve conduction\ndefinition : An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).\nsynonyms :Sensory and motor nerve conduction abnormalities; Abnormal peripheral nerve transmission\n'}


{'id': 'HP_0003137', 'url': 'http://purl.obolibrary.org/obo/HP_0003137', 'lbl': 'Prolinuria', 'desc': 'label: Prolinuria\ndefinition : Level of proline in the urine anove the upper limit of normal.\nsynonyms :Proline high in urine\n'}


{'id': 'HP_0003138', 'url': 'http://purl.obolibrary.org/obo/HP_0003138', 'lbl': 'Increased blood urea nitrogen', 'desc': 'label: Increased blood urea nitrogen\ndefinition : An increased amount of nitrogen in the form of urea in the blood.\nsynonyms :Increased BUN; Increased blood urea nitrogen\n'}


{'id': 'HP_0003139', 'url': 'http://purl.obolibrary.org/obo/HP_0003139', 'lbl': 'Panhypogammaglobulinemia', 'desc': 'label: Panhypogammaglobulinemia\ndefinition : A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.\nsynonyms :Panhypogammaglobulinaemia; Panypogammaglobulinemia\n'}


{'id': 'HP_0003140', 'url': 'http://purl.obolibrary.org/obo/HP_0003140', 'lbl': 'T-wave inversion in the right precordial leads', 'desc': 'label: T-wave inversion in the right precordial leads\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003141', 'url': 'http://purl.obolibrary.org/obo/HP_0003141', 'lbl': 'Increased LDL cholesterol concentration', 'desc': 'label: Increased LDL cholesterol concentration\ndefinition : An elevated concentration of low-density lipoprotein cholesterol in the blood.\nsynonyms :Hyperbetalipoproteinemia; Increased LDL cholesterol; Increased LDLc concentration; Increased beta-lipoproteins; Increased circulating LDL level; Increased circulating low-density lipoprotein cholesterol; Increased circulating low-density lipoprotein levels; Increased plasma LDL levels\n'}


{'id': 'HP_0003142', 'url': 'http://purl.obolibrary.org/obo/HP_0003142', 'lbl': 'Excessive purine production', 'desc': 'label: Excessive purine production\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003144', 'url': 'http://purl.obolibrary.org/obo/HP_0003144', 'lbl': 'Increased serum serotonin', 'desc': 'label: Increased serum serotonin\ndefinition : A increased concentration of serotonin in the blood.\nsynonyms :Increased serum serotonin\n'}


{'id': 'HP_0003145', 'url': 'http://purl.obolibrary.org/obo/HP_0003145', 'lbl': 'Decreased adenosylcobalamin', 'desc': 'label: Decreased adenosylcobalamin\ndefinition : Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12.\nsynonyms :Decreased ADOCBL\n'}


{'id': 'HP_0003146', 'url': 'http://purl.obolibrary.org/obo/HP_0003146', 'lbl': 'Hypocholesterolemia', 'desc': 'label: Hypocholesterolemia\ndefinition : An decreased concentration of cholesterol in the blood.\nsynonyms :Decreased circulating cholesterol level\n'}


{'id': 'HP_0003148', 'url': 'http://purl.obolibrary.org/obo/HP_0003148', 'lbl': 'Elevated serum acid phosphatase', 'desc': 'label: Elevated serum acid phosphatase\ndefinition : \nsynonyms :Acid phosphatase elevated; Elevated serum acid phosphatase\n'}


{'id': 'HP_0003149', 'url': 'http://purl.obolibrary.org/obo/HP_0003149', 'lbl': 'Hyperuricosuria', 'desc': 'label: Hyperuricosuria\ndefinition : An abnormally high level of uric acid in the urine.\nsynonyms :High urine uric acid level; Increased urinary urate\n'}


{'id': 'HP_0003150', 'url': 'http://purl.obolibrary.org/obo/HP_0003150', 'lbl': 'Glutaric aciduria', 'desc': 'label: Glutaric aciduria\ndefinition : An increased concentration of glutaric acid in the urine.\nsynonyms :Glutarate aciduria; Glutaricaciduria; Increased glutarate level in urine\n'}


{'id': 'HP_0003152', 'url': 'http://purl.obolibrary.org/obo/HP_0003152', 'lbl': 'obsolete Increased serum 1,25-dihydroxyvitamin D3', 'desc': 'label: obsolete Increased serum 1,25-dihydroxyvitamin D3\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003153', 'url': 'http://purl.obolibrary.org/obo/HP_0003153', 'lbl': 'Cystathioninuria', 'desc': 'label: Cystathioninuria\ndefinition : An elevated urinary concentration of cystathionine.\nsynonyms :High urine cystathionine levels\n'}


{'id': 'HP_0003154', 'url': 'http://purl.obolibrary.org/obo/HP_0003154', 'lbl': 'Increased circulating ACTH level', 'desc': 'label: Increased circulating ACTH level\ndefinition : An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.\nsynonyms :High blood corticotropin levels; Increased circulating ACTH level; Increased plasma ACTH\n'}


{'id': 'HP_0003155', 'url': 'http://purl.obolibrary.org/obo/HP_0003155', 'lbl': 'Elevated circulating alkaline phosphatase concentration', 'desc': 'label: Elevated circulating alkaline phosphatase concentration\ndefinition : Abnormally increased serum levels of alkaline phosphatase activity.\nsynonyms :Elevated ALP; Elevated alkaline phosphatase; Greatly elevated alkaline phosphatase; High serum alkaline phosphatase; Hyperphosphatasemia; Hyperphosphatasia; Increased alkaline phosphatase; Increased serum alkaline phosphatase\n'}


{'id': 'HP_0003158', 'url': 'http://purl.obolibrary.org/obo/HP_0003158', 'lbl': 'Hyposthenuria', 'desc': 'label: Hyposthenuria\ndefinition : An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.\nsynonyms :Reduced urinary osmolality\n'}


{'id': 'HP_0003159', 'url': 'http://purl.obolibrary.org/obo/HP_0003159', 'lbl': 'Hyperoxaluria', 'desc': 'label: Hyperoxaluria\ndefinition : Increased excretion of oxalates in the urine.\nsynonyms :High urine oxalate levels; Increased level of oxalate in urine\n'}


{'id': 'HP_0003160', 'url': 'http://purl.obolibrary.org/obo/HP_0003160', 'lbl': 'Abnormal isoelectric focusing of serum transferrin', 'desc': 'label: Abnormal isoelectric focusing of serum transferrin\ndefinition : Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded.\nsynonyms :Abnormal isoelectric focusing of transferrin; Abnormal transferrin isoelectric focusing\n'}


{'id': 'HP_0003161', 'url': 'http://purl.obolibrary.org/obo/HP_0003161', 'lbl': '4-Hydroxyphenylpyruvic aciduria', 'desc': 'label: 4-Hydroxyphenylpyruvic aciduria\ndefinition : Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine.\nsynonyms :Hydroxyphenylpyruvic aciduria\n'}


{'id': 'HP_0003162', 'url': 'http://purl.obolibrary.org/obo/HP_0003162', 'lbl': 'Fasting hypoglycemia', 'desc': 'label: Fasting hypoglycemia\ndefinition : \nsynonyms :Low blood sugar when fasting\n'}


{'id': 'HP_0003163', 'url': 'http://purl.obolibrary.org/obo/HP_0003163', 'lbl': 'Elevated urinary delta-aminolevulinic acid', 'desc': 'label: Elevated urinary delta-aminolevulinic acid\ndefinition : An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.\nsynonyms :Elevated urinary delta-aminolevulinic acid\n'}


{'id': 'HP_0003164', 'url': 'http://purl.obolibrary.org/obo/HP_0003164', 'lbl': 'Hypothalamic gonadotropin-releasing hormone deficiency', 'desc': 'label: Hypothalamic gonadotropin-releasing hormone deficiency\ndefinition : \nsynonyms :Hypothalamic GNRH deficiency\n'}


{'id': 'HP_0003165', 'url': 'http://purl.obolibrary.org/obo/HP_0003165', 'lbl': 'Elevated circulating parathyroid hormone level', 'desc': 'label: Elevated circulating parathyroid hormone level\ndefinition : An abnormal increased concentration of parathyroid hormone.\nsynonyms :Elevated circulating PTH level; Elevated serum parathyroid hormone; Elevated serum parathyroid hormone level; Elevated serum pth; Increased serum parathyroid hormone\n'}


{'id': 'HP_0003166', 'url': 'http://purl.obolibrary.org/obo/HP_0003166', 'lbl': 'Increased urinary taurine', 'desc': 'label: Increased urinary taurine\ndefinition : Increased concentration of taurine in the urine.\nsynonyms :Increased urinary taurine\n'}


{'id': 'HP_0003167', 'url': 'http://purl.obolibrary.org/obo/HP_0003167', 'lbl': 'Carnosinuria', 'desc': 'label: Carnosinuria\ndefinition : An increased concentration of carnosine in the urine.\nsynonyms :High urine carnosine levels\n'}


{'id': 'HP_0003168', 'url': 'http://purl.obolibrary.org/obo/HP_0003168', 'lbl': 'Dibasicaminoaciduria', 'desc': 'label: Dibasicaminoaciduria\ndefinition : An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His).\nsynonyms :\n'}


{'id': 'HP_0003170', 'url': 'http://purl.obolibrary.org/obo/HP_0003170', 'lbl': 'Abnormal acetabulum morphology', 'desc': 'label: Abnormal acetabulum morphology\ndefinition : An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.\nsynonyms :Abnormality of the acetabulum; Abnormality of the hipbone socket; Acetabular abnormality\n'}


{'id': 'HP_0003172', 'url': 'http://purl.obolibrary.org/obo/HP_0003172', 'lbl': 'Abnormal pubic bone morphology', 'desc': 'label: Abnormal pubic bone morphology\ndefinition : An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone.\nsynonyms :Abnormality of the pubic bone; Abnormality of the pubic bones; Abnormality of the pubis\n'}


{'id': 'HP_0003173', 'url': 'http://purl.obolibrary.org/obo/HP_0003173', 'lbl': 'Hypoplastic pubic bone', 'desc': 'label: Hypoplastic pubic bone\ndefinition : Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.\nsynonyms :Hypoplastic pubic bones; Hypoplastic pubis\n'}


{'id': 'HP_0003174', 'url': 'http://purl.obolibrary.org/obo/HP_0003174', 'lbl': 'Abnormal ischium morphology', 'desc': 'label: Abnormal ischium morphology\ndefinition : An anomaly of the ischium, which forms the lower and back part of the hip bone.\nsynonyms :Abnormality of the ischial bones; Abnormality of the ischium; Anomaly of the ischium\n'}


{'id': 'HP_0003175', 'url': 'http://purl.obolibrary.org/obo/HP_0003175', 'lbl': 'Hypoplastic ischia', 'desc': 'label: Hypoplastic ischia\ndefinition : Underdevelopment of the ischium, which forms the lower and back part of the hip bone.\nsynonyms :Hypoplastic ischial bones; Hypoplastic ischii; Hypoplastic ischium\n'}


{'id': 'HP_0003177', 'url': 'http://purl.obolibrary.org/obo/HP_0003177', 'lbl': 'Squared iliac bones', 'desc': 'label: Squared iliac bones\ndefinition : A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.\nsynonyms :Square iliac bones; Squaring of iliac bones\n'}


{'id': 'HP_0003179', 'url': 'http://purl.obolibrary.org/obo/HP_0003179', 'lbl': 'Protrusio acetabuli', 'desc': 'label: Protrusio acetabuli\ndefinition : Intrapelvic bulging of the medial acetabular wall.\nsynonyms :Abnormally indented hip sockets; Protrusio acetabulae\n'}


{'id': 'HP_0003180', 'url': 'http://purl.obolibrary.org/obo/HP_0003180', 'lbl': 'Flat acetabular roof', 'desc': 'label: Flat acetabular roof\ndefinition : Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.\nsynonyms :Acetabular angle flat; Flat acetabular roofs; Flattened acetabular roof; Horizontal acetabulae; Horizontal acetabular roof; Horizontal acetabular roofs\n'}


{'id': 'HP_0003182', 'url': 'http://purl.obolibrary.org/obo/HP_0003182', 'lbl': 'Shallow acetabular fossae', 'desc': 'label: Shallow acetabular fossae\ndefinition : \nsynonyms :Shallow acetabula; Shallow acetabulae; Shallow acetabular fossa; Shallow acetabulum\n'}


{'id': 'HP_0003183', 'url': 'http://purl.obolibrary.org/obo/HP_0003183', 'lbl': 'Wide pubic symphysis', 'desc': 'label: Wide pubic symphysis\ndefinition : Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.\nsynonyms :Wide symphysis of pubis\n'}


{'id': 'HP_0003184', 'url': 'http://purl.obolibrary.org/obo/HP_0003184', 'lbl': 'Decreased hip abduction', 'desc': 'label: Decreased hip abduction\ndefinition : Reduced ability to move the femur outward to the side.\nsynonyms :Limited hip abduction\n'}


{'id': 'HP_0003185', 'url': 'http://purl.obolibrary.org/obo/HP_0003185', 'lbl': 'Short greater sciatic notch', 'desc': 'label: Short greater sciatic notch\ndefinition : The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.\nsynonyms :Short sacroiliac notch; Shortened sacroiliac notches; Small sacroiliac notch\n'}


{'id': 'HP_0003186', 'url': 'http://purl.obolibrary.org/obo/HP_0003186', 'lbl': 'Inverted nipples', 'desc': 'label: Inverted nipples\ndefinition : The presence of nipples that instead of pointing outward are retracted inwards.\nsynonyms :Invaginated nipples; Inverted nipples\n'}


{'id': 'HP_0003187', 'url': 'http://purl.obolibrary.org/obo/HP_0003187', 'lbl': 'Breast hypoplasia', 'desc': 'label: Breast hypoplasia\ndefinition : Underdevelopment of the breast.\nsynonyms :Underdeveloped breasts\n'}


{'id': 'HP_0003189', 'url': 'http://purl.obolibrary.org/obo/HP_0003189', 'lbl': 'Long nose', 'desc': 'label: Long nose\ndefinition : Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.\nsynonyms :Elongated nose; Increased height of nose; Increased length of nose; Increased nasal height; Increased nasal length; Long nose; Nasal elongation\n'}


{'id': 'HP_0003191', 'url': 'http://purl.obolibrary.org/obo/HP_0003191', 'lbl': 'Cleft ala nasi', 'desc': 'label: Cleft ala nasi\ndefinition : The presence of a notch in the margin of the ala nasi.\nsynonyms :Ala nasi, cleft; Alar clefts; Cleft nasal alae; Cleft nostril; Notched nasal alae; Nostril coloboma\n'}


{'id': 'HP_0003193', 'url': 'http://purl.obolibrary.org/obo/HP_0003193', 'lbl': 'Allergic rhinitis', 'desc': 'label: Allergic rhinitis\ndefinition : It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.\nsynonyms :Hay fever; Hayfever; Nasal allergies\n'}


{'id': 'HP_0003194', 'url': 'http://purl.obolibrary.org/obo/HP_0003194', 'lbl': 'Short nasal bridge', 'desc': 'label: Short nasal bridge\ndefinition : Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.\nsynonyms :Decreased length of bridge of nose; Decreased length of nasal bridge; Short bridge of nose; Short nasal bridge\n'}


{'id': 'HP_0003196', 'url': 'http://purl.obolibrary.org/obo/HP_0003196', 'lbl': 'Short nose', 'desc': 'label: Short nose\ndefinition : Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.\nsynonyms :Decreased length of nose; Hypoplastic nose; Nasal hypoplasia; Short nose; Shortened nose; Small nose\n'}


{'id': 'HP_0003198', 'url': 'http://purl.obolibrary.org/obo/HP_0003198', 'lbl': 'Myopathy', 'desc': 'label: Myopathy\ndefinition : A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.\nsynonyms :Muscle tissue disease; Myopathic changes\n'}


{'id': 'HP_0003199', 'url': 'http://purl.obolibrary.org/obo/HP_0003199', 'lbl': 'Decreased muscle mass', 'desc': 'label: Decreased muscle mass\ndefinition : \nsynonyms :Decreased muscle mass\n'}


{'id': 'HP_0003200', 'url': 'http://purl.obolibrary.org/obo/HP_0003200', 'lbl': 'Ragged-red muscle fibers', 'desc': 'label: Ragged-red muscle fibers\ndefinition : An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.\nsynonyms :Mitochondrial proliferation in muscle tissue; Ragged red muscle fibers; Ragged red muscle fibres; Ragged-red fibers; Ragged-red fibres; Ragged-red muscle fibres\n'}


{'id': 'HP_0003201', 'url': 'http://purl.obolibrary.org/obo/HP_0003201', 'lbl': 'Rhabdomyolysis', 'desc': 'label: Rhabdomyolysis\ndefinition : Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.\nsynonyms :Breakdown of skeletal muscle\n'}


{'id': 'HP_0003202', 'url': 'http://purl.obolibrary.org/obo/HP_0003202', 'lbl': 'Skeletal muscle atrophy', 'desc': 'label: Skeletal muscle atrophy\ndefinition : The presence of skeletal muscular atrophy (which is also known as amyotrophy).\nsynonyms :Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy\n'}


{'id': 'HP_0003203', 'url': 'http://purl.obolibrary.org/obo/HP_0003203', 'lbl': 'Impaired oxidative burst', 'desc': 'label: Impaired oxidative burst\ndefinition : In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.\nsynonyms :Negative NBT reduction test; Negative nitroblue tetrazolium reduction test\n'}


{'id': 'HP_0003204', 'url': 'http://purl.obolibrary.org/obo/HP_0003204', 'lbl': 'Intracellular accumulation of autofluorescent lipopigment storage material', 'desc': 'label: Intracellular accumulation of autofluorescent lipopigment storage material\ndefinition : The intracellular accumulation of autofluorescent storage material.\nsynonyms :\n'}


{'id': 'HP_0003205', 'url': 'http://purl.obolibrary.org/obo/HP_0003205', 'lbl': 'Curvilinear intracellular accumulation of autofluorescent lipopigment storage material', 'desc': 'label: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material\ndefinition : An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.\nsynonyms :Curvilinear profiles ultrastructurally; Curvilinear profiles ultrastructurally in cells; Intracellular curvilinear profiles on ultrastructural analysis\n'}


{'id': 'HP_0003206', 'url': 'http://purl.obolibrary.org/obo/HP_0003206', 'lbl': 'Decreased activity of NADPH oxidase', 'desc': 'label: Decreased activity of NADPH oxidase\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003207', 'url': 'http://purl.obolibrary.org/obo/HP_0003207', 'lbl': 'Arterial calcification', 'desc': 'label: Arterial calcification\ndefinition : Pathological deposition of calcium salts in one or more arteries.\nsynonyms :\n'}


{'id': 'HP_0003208', 'url': 'http://purl.obolibrary.org/obo/HP_0003208', 'lbl': 'Fingerprint intracellular accumulation of autofluorescent lipopigment storage material', 'desc': 'label: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material\ndefinition : An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.\nsynonyms :Fingerprint profiles ultrastructurally; Fingerprint profiles ultrastructurally in cells\n'}


{'id': 'HP_0003209', 'url': 'http://purl.obolibrary.org/obo/HP_0003209', 'lbl': 'Decreased pyruvate carboxylase activity', 'desc': 'label: Decreased pyruvate carboxylase activity\ndefinition : A decreased rate of pyruvate carboxylase activity.\nsynonyms :\n'}


{'id': 'HP_0003210', 'url': 'http://purl.obolibrary.org/obo/HP_0003210', 'lbl': 'Decreased methylmalonyl-CoA mutase activity', 'desc': 'label: Decreased methylmalonyl-CoA mutase activity\ndefinition : An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.\nsynonyms :Decreased methylmalonyl CoA mutase activity\n'}


{'id': 'HP_0003212', 'url': 'http://purl.obolibrary.org/obo/HP_0003212', 'lbl': 'Increased circulating IgE level', 'desc': 'label: Increased circulating IgE level\ndefinition : An abnormally increased overall level of immunoglobulin E in blood.\nsynonyms :Elevated immunoglobulin E; Elevated serum IgE; High immunoglobulin E\n'}


{'id': 'HP_0003213', 'url': 'http://purl.obolibrary.org/obo/HP_0003213', 'lbl': 'Deficient excision of UV-induced pyrimidine dimers in DNA', 'desc': 'label: Deficient excision of UV-induced pyrimidine dimers in DNA\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003214', 'url': 'http://purl.obolibrary.org/obo/HP_0003214', 'lbl': 'Prolonged G2 phase of cell cycle', 'desc': 'label: Prolonged G2 phase of cell cycle\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003215', 'url': 'http://purl.obolibrary.org/obo/HP_0003215', 'lbl': 'Dicarboxylic aciduria', 'desc': 'label: Dicarboxylic aciduria\ndefinition : An increased concentration of dicarboxylic acid in the urine.\nsynonyms :Elevated urinary dicarboxylic acid level\n'}


{'id': 'HP_0003216', 'url': 'http://purl.obolibrary.org/obo/HP_0003216', 'lbl': 'Generalized amyloid deposition', 'desc': 'label: Generalized amyloid deposition\ndefinition : A diffuse form of amyloidosis.\nsynonyms :Generalised amyloid deposition\n'}


{'id': 'HP_0003217', 'url': 'http://purl.obolibrary.org/obo/HP_0003217', 'lbl': 'Hyperglutaminemia', 'desc': 'label: Hyperglutaminemia\ndefinition : An increased concentration of glutamine in the blood.\nsynonyms :High plasma glutamine\n'}


{'id': 'HP_0003218', 'url': 'http://purl.obolibrary.org/obo/HP_0003218', 'lbl': 'Oroticaciduria', 'desc': 'label: Oroticaciduria\ndefinition : An increased concentration of orotic acid in the urine.\nsynonyms :High urine orotic acid levels; Increased urinary orotic acid concentration; Orotic aciduria\n'}


{'id': 'HP_0003219', 'url': 'http://purl.obolibrary.org/obo/HP_0003219', 'lbl': 'Ethylmalonic aciduria', 'desc': 'label: Ethylmalonic aciduria\ndefinition : An increased concentration of ethylmalonic acid in the urine.\nsynonyms :\n'}


{'id': 'HP_0003220', 'url': 'http://purl.obolibrary.org/obo/HP_0003220', 'lbl': 'Abnormality of chromosome stability', 'desc': 'label: Abnormality of chromosome stability\ndefinition : A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration.\nsynonyms :\n'}


{'id': 'HP_0003221', 'url': 'http://purl.obolibrary.org/obo/HP_0003221', 'lbl': 'Chromosomal breakage induced by crosslinking agents', 'desc': 'label: Chromosomal breakage induced by crosslinking agents\ndefinition : Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.\nsynonyms :Chromosomal breakage induced by diepoxybutane; Chromosomal breakage induced by mitomycin C\n'}


{'id': 'HP_0003223', 'url': 'http://purl.obolibrary.org/obo/HP_0003223', 'lbl': 'Decreased methylcobalamin', 'desc': 'label: Decreased methylcobalamin\ndefinition : Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12.\nsynonyms :Methylcobalamin deficiency\n'}


{'id': 'HP_0003224', 'url': 'http://purl.obolibrary.org/obo/HP_0003224', 'lbl': 'Increased cellular sensitivity to UV light', 'desc': 'label: Increased cellular sensitivity to UV light\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003225', 'url': 'http://purl.obolibrary.org/obo/HP_0003225', 'lbl': 'Reduced coagulation factor V activity', 'desc': 'label: Reduced coagulation factor V activity\ndefinition : Decreased activity of coagulation factor V.\nsynonyms :Reduced factor V activity; Factor V deficiency\n'}


{'id': 'HP_0003226', 'url': 'http://purl.obolibrary.org/obo/HP_0003226', 'lbl': 'Rectilinear intracellular accumulation of autofluorescent lipopigment storage material', 'desc': 'label: Rectilinear intracellular accumulation of autofluorescent lipopigment storage material\ndefinition : An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.\nsynonyms :Rectilinear profiles ultrastructurally\n'}


{'id': 'HP_0003228', 'url': 'http://purl.obolibrary.org/obo/HP_0003228', 'lbl': 'Hypernatremia', 'desc': 'label: Hypernatremia\ndefinition : An abnormally increased sodium concentration in the blood.\nsynonyms :High blood sodium levels\n'}


{'id': 'HP_0003231', 'url': 'http://purl.obolibrary.org/obo/HP_0003231', 'lbl': 'Hypertyrosinemia', 'desc': 'label: Hypertyrosinemia\ndefinition : An increased concentration of tyrosine in the blood.\nsynonyms :Increased tyrosine in blood; Tyrosinemia\n'}


{'id': 'HP_0003232', 'url': 'http://purl.obolibrary.org/obo/HP_0003232', 'lbl': 'Mitochondrial malic enzyme reduced', 'desc': 'label: Mitochondrial malic enzyme reduced\ndefinition : \nsynonyms :Decreased mitochondrial malic enzyme\n'}


{'id': 'HP_0003233', 'url': 'http://purl.obolibrary.org/obo/HP_0003233', 'lbl': 'Decreased HDL cholesterol concentration', 'desc': 'label: Decreased HDL cholesterol concentration\ndefinition : An decreased concentration of high-density lipoprotein cholesterol in the blood.\nsynonyms :Decreased HDL cholesterol; Decreased circulating high-density lipoprotein cholesterol; Decreased circulating high-density lipoprotein levels; Hypoalphalipoproteinemia; Low HDL-cholesterol\n'}


{'id': 'HP_0003234', 'url': 'http://purl.obolibrary.org/obo/HP_0003234', 'lbl': 'Decreased plasma carnitine', 'desc': 'label: Decreased plasma carnitine\ndefinition : A decreased concentration of carnitine in the blood.\nsynonyms :Decreased plasma carnitine; Carnitine deficiency\n'}


{'id': 'HP_0003235', 'url': 'http://purl.obolibrary.org/obo/HP_0003235', 'lbl': 'Hypermethioninemia', 'desc': 'label: Hypermethioninemia\ndefinition : An increased concentration of methionine in the blood.\nsynonyms :Increased methionine in blood; Methioninemia\n'}


{'id': 'HP_0003236', 'url': 'http://purl.obolibrary.org/obo/HP_0003236', 'lbl': 'Elevated circulating creatine kinase concentration', 'desc': 'label: Elevated circulating creatine kinase concentration\ndefinition : An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.\nsynonyms :Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase\n'}


{'id': 'HP_0003237', 'url': 'http://purl.obolibrary.org/obo/HP_0003237', 'lbl': 'Increased circulating IgG level', 'desc': 'label: Increased circulating IgG level\ndefinition : An abnormally increased level of immunoglobulin G in blood.\nsynonyms :Increased IgG level; Increased levels of IgG; Increased total IgG in blood\n'}


{'id': 'HP_0003238', 'url': 'http://purl.obolibrary.org/obo/HP_0003238', 'lbl': 'Hyperpepsinogenemia I', 'desc': 'label: Hyperpepsinogenemia I\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003239', 'url': 'http://purl.obolibrary.org/obo/HP_0003239', 'lbl': 'Phosphoethanolaminuria', 'desc': 'label: Phosphoethanolaminuria\ndefinition : An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine.\nsynonyms :High urine phosphoethanolamine levels; Increased level of O-phosphoethanolamine in urine; Increased urine O-phosphoethanolamine level\n'}


{'id': 'HP_0003240', 'url': 'http://purl.obolibrary.org/obo/HP_0003240', 'lbl': 'Increased phosphoribosylpyrophosphate synthetase level', 'desc': 'label: Increased phosphoribosylpyrophosphate synthetase level\ndefinition : Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.\nsynonyms :Increased PRPS1 activity; Increased phosphoribosyl pyrophosphate synthetase activity\n'}


{'id': 'HP_0003241', 'url': 'http://purl.obolibrary.org/obo/HP_0003241', 'lbl': 'External genital hypoplasia', 'desc': 'label: External genital hypoplasia\ndefinition : Underdevelopment of part or all of the external reproductive organs.\nsynonyms :Hypogenitalism; Small genitalia; Underdevelopment of external reproductive organs\n'}


{'id': 'HP_0003244', 'url': 'http://purl.obolibrary.org/obo/HP_0003244', 'lbl': 'Penile hypospadias', 'desc': 'label: Penile hypospadias\ndefinition : Location of the urethral opening on the inferior aspect of the penis.\nsynonyms :\n'}


{'id': 'HP_0003246', 'url': 'http://purl.obolibrary.org/obo/HP_0003246', 'lbl': 'Prominent scrotal raphe', 'desc': 'label: Prominent scrotal raphe\ndefinition : Increased size of the ridge of tissue that extends along the midline of the scrotum.\nsynonyms :Prominent perineal raphe\n'}


{'id': 'HP_0003247', 'url': 'http://purl.obolibrary.org/obo/HP_0003247', 'lbl': 'Overgrowth of external genitalia', 'desc': 'label: Overgrowth of external genitalia\ndefinition : \nsynonyms :Overgrowth of external genitalia\n'}


{'id': 'HP_0003248', 'url': 'http://purl.obolibrary.org/obo/HP_0003248', 'lbl': 'Gonadal tissue inappropriate for external genitalia or chromosomal sex', 'desc': 'label: Gonadal tissue inappropriate for external genitalia or chromosomal sex\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003249', 'url': 'http://purl.obolibrary.org/obo/HP_0003249', 'lbl': 'Genital ulcers', 'desc': 'label: Genital ulcers\ndefinition : \nsynonyms :Genital ulcers\n'}


{'id': 'HP_0003250', 'url': 'http://purl.obolibrary.org/obo/HP_0003250', 'lbl': 'Aplasia of the vagina', 'desc': 'label: Aplasia of the vagina\ndefinition : Aplasia of the vagina.\nsynonyms :Absent vagina; Congenital absence of the vagina\n'}


{'id': 'HP_0003251', 'url': 'http://purl.obolibrary.org/obo/HP_0003251', 'lbl': 'Male infertility', 'desc': 'label: Male infertility\ndefinition : \nsynonyms :Male infertility\n'}


{'id': 'HP_0003252', 'url': 'http://purl.obolibrary.org/obo/HP_0003252', 'lbl': 'Anteriorly displaced genitalia', 'desc': 'label: Anteriorly displaced genitalia\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003254', 'url': 'http://purl.obolibrary.org/obo/HP_0003254', 'lbl': 'Abnormality of DNA repair', 'desc': 'label: Abnormality of DNA repair\ndefinition : An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage.\nsynonyms :\n'}


{'id': 'HP_0003256', 'url': 'http://purl.obolibrary.org/obo/HP_0003256', 'lbl': 'Abnormality of the coagulation cascade', 'desc': 'label: Abnormality of the coagulation cascade\ndefinition : An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.\nsynonyms :Coagulopathy\n'}


{'id': 'HP_0003258', 'url': 'http://purl.obolibrary.org/obo/HP_0003258', 'lbl': 'Glyoxalase deficiency', 'desc': 'label: Glyoxalase deficiency\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003259', 'url': 'http://purl.obolibrary.org/obo/HP_0003259', 'lbl': 'Elevated circulating creatinine concentration', 'desc': 'label: Elevated circulating creatinine concentration\ndefinition : An increased amount of creatinine in the blood.\nsynonyms :Elevated creatinine; Elevated serum creatinine; High blood creatinine level; Increased creatinine; Increased serum creatinine\n'}


{'id': 'HP_0003260', 'url': 'http://purl.obolibrary.org/obo/HP_0003260', 'lbl': 'Hydroxyprolinemia', 'desc': 'label: Hydroxyprolinemia\ndefinition : An increased concentration of hydroxyproline in the blood.\nsynonyms :High blood hydroxyproline levels\n'}


{'id': 'HP_0003261', 'url': 'http://purl.obolibrary.org/obo/HP_0003261', 'lbl': 'Increased circulating IgA level', 'desc': 'label: Increased circulating IgA level\ndefinition : An abnormally increased level of immunoglobulin A in blood.\nsynonyms :Elevated IgA; Elevated serum IgA; IgA hypergammaglobulinemia; Increased levels of IgA; Increased serum IgA\n'}


{'id': 'HP_0003262', 'url': 'http://purl.obolibrary.org/obo/HP_0003262', 'lbl': 'Smooth muscle antibody positivity', 'desc': 'label: Smooth muscle antibody positivity\ndefinition : The presence in serum of antibodies against smooth muscle.\nsynonyms :Anti-smooth muscle antibody positivity; Smooth muscle antibody positive\n'}


{'id': 'HP_0003264', 'url': 'http://purl.obolibrary.org/obo/HP_0003264', 'lbl': 'Deficiency of N-acetylglucosamine-1-phosphotransferase', 'desc': 'label: Deficiency of N-acetylglucosamine-1-phosphotransferase\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003265', 'url': 'http://purl.obolibrary.org/obo/HP_0003265', 'lbl': 'Neonatal hyperbilirubinemia', 'desc': 'label: Neonatal hyperbilirubinemia\ndefinition : A type of hyperbilirubinemia with neonatal onset.\nsynonyms :High blood bilirubin levels in neonate; Hyperbilirubinemia, neonatal\n'}


{'id': 'HP_0003267', 'url': 'http://purl.obolibrary.org/obo/HP_0003267', 'lbl': 'Reduced orotidine 5-prime phosphate decarboxylase level', 'desc': "label: Reduced orotidine 5-prime phosphate decarboxylase level\ndefinition : An abnormal decrease in orotidine 5'-phosphate decarboxylase level.\nsynonyms :Orotidine-5-prime-phosphate decarboxylase defect\n"}


{'id': 'HP_0003268', 'url': 'http://purl.obolibrary.org/obo/HP_0003268', 'lbl': 'Argininuria', 'desc': 'label: Argininuria\ndefinition : A increased concentration of arginine in the urine.\nsynonyms :High urine arginine levels\n'}


{'id': 'HP_0003269', 'url': 'http://purl.obolibrary.org/obo/HP_0003269', 'lbl': 'Sudanophilic leukodystrophy', 'desc': 'label: Sudanophilic leukodystrophy\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003270', 'url': 'http://purl.obolibrary.org/obo/HP_0003270', 'lbl': 'Abdominal distention', 'desc': 'label: Abdominal distention\ndefinition : Distention of the abdomen.\nsynonyms :Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen\n'}


{'id': 'HP_0003271', 'url': 'http://purl.obolibrary.org/obo/HP_0003271', 'lbl': 'Visceromegaly', 'desc': 'label: Visceromegaly\ndefinition : Abnormal increased size of the viscera of the abdomen.\nsynonyms :\n'}


{'id': 'HP_0003272', 'url': 'http://purl.obolibrary.org/obo/HP_0003272', 'lbl': 'Abnormal hip bone morphology', 'desc': 'label: Abnormal hip bone morphology\ndefinition : An abnormality of the hip bone.\nsynonyms :Abnormality of the hip bone; Abnormality of the hips\n'}


{'id': 'HP_0003273', 'url': 'http://purl.obolibrary.org/obo/HP_0003273', 'lbl': 'Hip contracture', 'desc': 'label: Hip contracture\ndefinition : Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.\nsynonyms :Flexion contracture of hips; Flexion contractures of hips; Hip contractures; Hip flexion contractures\n'}


{'id': 'HP_0003274', 'url': 'http://purl.obolibrary.org/obo/HP_0003274', 'lbl': 'Hypoplastic acetabulae', 'desc': 'label: Hypoplastic acetabulae\ndefinition : Underdeveloped acetabulae.\nsynonyms :Acetabular hypoplasia; Hypoplastic acetabula\n'}


{'id': 'HP_0003275', 'url': 'http://purl.obolibrary.org/obo/HP_0003275', 'lbl': 'Narrow pelvis bone', 'desc': 'label: Narrow pelvis bone\ndefinition : Reduced side to side width of the pelvis.\nsynonyms :Narrow pelvis; Narrow pelvis bone\n'}


{'id': 'HP_0003276', 'url': 'http://purl.obolibrary.org/obo/HP_0003276', 'lbl': 'Pelvic bone exostoses', 'desc': 'label: Pelvic bone exostoses\ndefinition : A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.\nsynonyms :Pelvic exostoses\n'}


{'id': 'HP_0003277', 'url': 'http://purl.obolibrary.org/obo/HP_0003277', 'lbl': 'Constricted iliac wing', 'desc': 'label: Constricted iliac wing\ndefinition : \nsynonyms :Constricted iliac wings\n'}


{'id': 'HP_0003278', 'url': 'http://purl.obolibrary.org/obo/HP_0003278', 'lbl': 'Square pelvis bone', 'desc': 'label: Square pelvis bone\ndefinition : An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.\nsynonyms :Square pelvis; Square pelvis bone; Squared off pelvis\n'}


{'id': 'HP_0003279', 'url': 'http://purl.obolibrary.org/obo/HP_0003279', 'lbl': 'Coxa magna', 'desc': 'label: Coxa magna\ndefinition : Widening of the femoral head and neck.\nsynonyms :\n'}


{'id': 'HP_0003281', 'url': 'http://purl.obolibrary.org/obo/HP_0003281', 'lbl': 'Increased circulating ferritin concentration', 'desc': 'label: Increased circulating ferritin concentration\ndefinition : Increased concentration of ferritin in the blood circulation.\nsynonyms :Elevated serum ferritin; High ferritin level; Hyperferritinaemia; Hyperferritinemia; Increased ferritin; Increased plasma ferritin; Increased serum ferritin level\n'}


{'id': 'HP_0003282', 'url': 'http://purl.obolibrary.org/obo/HP_0003282', 'lbl': 'Low alkaline phosphatase', 'desc': 'label: Low alkaline phosphatase\ndefinition : Abnormally reduced serum levels of alkaline phosphatase.\nsynonyms :Decreased serum alkaline phosphatase; Low ALP\n'}


{'id': 'HP_0003286', 'url': 'http://purl.obolibrary.org/obo/HP_0003286', 'lbl': 'Cystathioninemia', 'desc': 'label: Cystathioninemia\ndefinition : An increased concentration of cystathionine in the blood.\nsynonyms :High blood cystathionine levels\n'}


{'id': 'HP_0003287', 'url': 'http://purl.obolibrary.org/obo/HP_0003287', 'lbl': 'Abnormality of mitochondrial metabolism', 'desc': 'label: Abnormality of mitochondrial metabolism\ndefinition : A functional anomaly of mitochondria.\nsynonyms :Mitochondrial dysfunction\n'}


{'id': 'HP_0003288', 'url': 'http://purl.obolibrary.org/obo/HP_0003288', 'lbl': 'Mitochondrial propionyl-CoA carboxylase defect', 'desc': 'label: Mitochondrial propionyl-CoA carboxylase defect\ndefinition : \nsynonyms :Mitochondrial PCC defect\n'}


{'id': 'HP_0003292', 'url': 'http://purl.obolibrary.org/obo/HP_0003292', 'lbl': 'Decreased serum leptin', 'desc': 'label: Decreased serum leptin\ndefinition : A decreased concentration of leptin in the blood.\nsynonyms :Decreased serum leptin; Reduced circulating leptin level\n'}


{'id': 'HP_0003295', 'url': 'http://purl.obolibrary.org/obo/HP_0003295', 'lbl': 'obsolete Impaired FSH and LH secretion', 'desc': 'label: obsolete Impaired FSH and LH secretion\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003296', 'url': 'http://purl.obolibrary.org/obo/HP_0003296', 'lbl': 'Hyperthreoninuria', 'desc': 'label: Hyperthreoninuria\ndefinition : An increased concentration of threonine in the urine.\nsynonyms :High urine threonine levels\n'}


{'id': 'HP_0003297', 'url': 'http://purl.obolibrary.org/obo/HP_0003297', 'lbl': 'Hyperlysinuria', 'desc': 'label: Hyperlysinuria\ndefinition : An increased concentration of lysine in the urine.\nsynonyms :High urine lysine levels; Lysinuria\n'}


{'id': 'HP_0003298', 'url': 'http://purl.obolibrary.org/obo/HP_0003298', 'lbl': 'Spina bifida occulta', 'desc': 'label: Spina bifida occulta\ndefinition : The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.\nsynonyms :\n'}


{'id': 'HP_0003300', 'url': 'http://purl.obolibrary.org/obo/HP_0003300', 'lbl': 'Ovoid vertebral bodies', 'desc': 'label: Ovoid vertebral bodies\ndefinition : When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.\nsynonyms :Oval vertebral bodies; Ovoid vertebrae; Ovoid-shaped vertebral bodies; Bullet vertebral body\n'}


{'id': 'HP_0003301', 'url': 'http://purl.obolibrary.org/obo/HP_0003301', 'lbl': 'Irregular vertebral endplates', 'desc': 'label: Irregular vertebral endplates\ndefinition : An irregular surface of the vertebral end plates, which are normally relatively smooth.\nsynonyms :Irregular end plates; Irregular endplates; end-plate irregularities; endplate irregularities; endplate irregularity; irregular vertebral plates; vertebral endplate irregularity\n'}


{'id': 'HP_0003302', 'url': 'http://purl.obolibrary.org/obo/HP_0003302', 'lbl': 'Spondylolisthesis', 'desc': 'label: Spondylolisthesis\ndefinition : Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.\nsynonyms :Displacement of one backbone compared to another; Slipped backbone; Spondylolithesis\n'}


{'id': 'HP_0003304', 'url': 'http://purl.obolibrary.org/obo/HP_0003304', 'lbl': 'Spondylolysis', 'desc': 'label: Spondylolysis\ndefinition : Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.\nsynonyms :\n'}


{'id': 'HP_0003305', 'url': 'http://purl.obolibrary.org/obo/HP_0003305', 'lbl': 'Block vertebrae', 'desc': 'label: Block vertebrae\ndefinition : Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).\nsynonyms :\n'}


{'id': 'HP_0003306', 'url': 'http://purl.obolibrary.org/obo/HP_0003306', 'lbl': 'Spinal rigidity', 'desc': 'label: Spinal rigidity\ndefinition : Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.\nsynonyms :Reduced spine movement; Rigid spine\n'}


{'id': 'HP_0003307', 'url': 'http://purl.obolibrary.org/obo/HP_0003307', 'lbl': 'Hyperlordosis', 'desc': 'label: Hyperlordosis\ndefinition : Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.\nsynonyms :Lordosis; Prominent swayback\n'}


{'id': 'HP_0003308', 'url': 'http://purl.obolibrary.org/obo/HP_0003308', 'lbl': 'Cervical subluxation', 'desc': 'label: Cervical subluxation\ndefinition : A partial dislocation of one or more intervertebral joints in the cervical vertebral column.\nsynonyms :\n'}


{'id': 'HP_0003309', 'url': 'http://purl.obolibrary.org/obo/HP_0003309', 'lbl': 'Ovoid thoracolumbar vertebrae', 'desc': 'label: Ovoid thoracolumbar vertebrae\ndefinition : \nsynonyms :Ovoid thoracic and lumbar vertebrae\n'}


{'id': 'HP_0003310', 'url': 'http://purl.obolibrary.org/obo/HP_0003310', 'lbl': 'Abnormality of the odontoid process', 'desc': 'label: Abnormality of the odontoid process\ndefinition : Abnormality of the dens of the axis, which is also known as the odontoid process.\nsynonyms :Abnormal odontoid peg; Abnormal odontoid process\n'}


{'id': 'HP_0003311', 'url': 'http://purl.obolibrary.org/obo/HP_0003311', 'lbl': 'Hypoplasia of the odontoid process', 'desc': 'label: Hypoplasia of the odontoid process\ndefinition : Developmental hypoplasia of the dens of the axis.\nsynonyms :Hypoplastic odontoid process; Odontoid hypoplasia; Small odontoid peg; Small odontoid process\n'}


{'id': 'HP_0003312', 'url': 'http://purl.obolibrary.org/obo/HP_0003312', 'lbl': 'Abnormal form of the vertebral bodies', 'desc': 'label: Abnormal form of the vertebral bodies\ndefinition : Abnormal morphology of vertebral body.\nsynonyms :Abnormally shaped vertebrae\n'}


{'id': 'HP_0003316', 'url': 'http://purl.obolibrary.org/obo/HP_0003316', 'lbl': 'Butterfly vertebrae', 'desc': 'label: Butterfly vertebrae\ndefinition : A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.\nsynonyms :Anterior rachischisis; Butterfly vertebrae; Sagittal clefting of vertebrae\n'}


{'id': 'HP_0003318', 'url': 'http://purl.obolibrary.org/obo/HP_0003318', 'lbl': 'Cervical spine hypermobility', 'desc': 'label: Cervical spine hypermobility\ndefinition : \nsynonyms :Cervical spine joint hypermobility\n'}


{'id': 'HP_0003319', 'url': 'http://purl.obolibrary.org/obo/HP_0003319', 'lbl': 'Abnormality of the cervical spine', 'desc': 'label: Abnormality of the cervical spine\ndefinition : Any abnormality of the cervical vertebral column.\nsynonyms :Abnormal cervical spine; Abnormality of cervical vertebra; Abnormality of the cervical vertebrae; Cervical spine abnormalities; Cervical vertebral abnormalities; Disorder of cervical vertebra; Cervical vertebral anomalies\n'}


{'id': 'HP_0003320', 'url': 'http://purl.obolibrary.org/obo/HP_0003320', 'lbl': 'C1-C2 subluxation', 'desc': 'label: C1-C2 subluxation\ndefinition : A partial dislocation of the atlantoaxial joints.\nsynonyms :\n'}


{'id': 'HP_0003321', 'url': 'http://purl.obolibrary.org/obo/HP_0003321', 'lbl': 'Biconcave flattened vertebrae', 'desc': 'label: Biconcave flattened vertebrae\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003323', 'url': 'http://purl.obolibrary.org/obo/HP_0003323', 'lbl': 'Progressive muscle weakness', 'desc': 'label: Progressive muscle weakness\ndefinition : \nsynonyms :Muscle weakness, progressive; Progressive muscular weakness\n'}


{'id': 'HP_0003324', 'url': 'http://purl.obolibrary.org/obo/HP_0003324', 'lbl': 'Generalized muscle weakness', 'desc': 'label: Generalized muscle weakness\ndefinition : Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.\nsynonyms :Generalised muscle weakness; Generalised weakness; Generalized weakness; Muscle weakness, diffuse; Muscle weakness, generalised; Muscle weakness, generalized\n'}


{'id': 'HP_0003325', 'url': 'http://purl.obolibrary.org/obo/HP_0003325', 'lbl': 'Limb-girdle muscle weakness', 'desc': 'label: Limb-girdle muscle weakness\ndefinition : Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.\nsynonyms :Limb girdle weakness; Muscle weakness, limb-girdle; Muscular weakness, limb-girdle\n'}


{'id': 'HP_0003326', 'url': 'http://purl.obolibrary.org/obo/HP_0003326', 'lbl': 'Myalgia', 'desc': 'label: Myalgia\ndefinition : Pain in muscle.\nsynonyms :Muscle ache; Muscle pain; Myalgias\n'}


{'id': 'HP_0003327', 'url': 'http://purl.obolibrary.org/obo/HP_0003327', 'lbl': 'Axial muscle weakness', 'desc': 'label: Axial muscle weakness\ndefinition : Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).\nsynonyms :\n'}


{'id': 'HP_0003328', 'url': 'http://purl.obolibrary.org/obo/HP_0003328', 'lbl': 'Abnormal hairshaft morphology', 'desc': 'label: Abnormal hairshaft morphology\ndefinition : An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin.\nsynonyms :\n'}


{'id': 'HP_0003329', 'url': 'http://purl.obolibrary.org/obo/HP_0003329', 'lbl': 'Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes', 'desc': 'label: Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003330', 'url': 'http://purl.obolibrary.org/obo/HP_0003330', 'lbl': 'Abnormal bone structure', 'desc': 'label: Abnormal bone structure\ndefinition : Any anomaly in the composite material or the layered arrangement of the bony skeleton.\nsynonyms :\n'}


{'id': 'HP_0003332', 'url': 'http://purl.obolibrary.org/obo/HP_0003332', 'lbl': 'Absent primary metaphyseal spongiosa', 'desc': 'label: Absent primary metaphyseal spongiosa\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003333', 'url': 'http://purl.obolibrary.org/obo/HP_0003333', 'lbl': 'Increased serum beta-hexosaminidase', 'desc': 'label: Increased serum beta-hexosaminidase\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003334', 'url': 'http://purl.obolibrary.org/obo/HP_0003334', 'lbl': 'Elevated circulating catecholamine level', 'desc': 'label: Elevated circulating catecholamine level\ndefinition : An abnormal increase in catecholamine concentration in the blood.\nsynonyms :\n'}


{'id': 'HP_0003335', 'url': 'http://purl.obolibrary.org/obo/HP_0003335', 'lbl': 'obsolete Low gonadotropins (secondary hypogonadism)', 'desc': 'label: obsolete Low gonadotropins (secondary hypogonadism)\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003336', 'url': 'http://purl.obolibrary.org/obo/HP_0003336', 'lbl': 'Abnormal enchondral ossification', 'desc': 'label: Abnormal enchondral ossification\ndefinition : An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.\nsynonyms :\n'}


{'id': 'HP_0003337', 'url': 'http://purl.obolibrary.org/obo/HP_0003337', 'lbl': 'Reduced prothrombin consumption', 'desc': 'label: Reduced prothrombin consumption\ndefinition : The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.\nsynonyms :Poor prothrombin consumption\n'}


{'id': 'HP_0003338', 'url': 'http://purl.obolibrary.org/obo/HP_0003338', 'lbl': 'Focal necrosis of right ventricular muscle cells', 'desc': 'label: Focal necrosis of right ventricular muscle cells\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003339', 'url': 'http://purl.obolibrary.org/obo/HP_0003339', 'lbl': 'Pyrimidine-responsive megaloblastic anemia', 'desc': 'label: Pyrimidine-responsive megaloblastic anemia\ndefinition : A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.\nsynonyms :Anaemia corrected by uridylic acid and cytidylic acid; Anemia corrected by uridylic acid and cytidylic acid; Pyrimidine-responsive megaloblastic anaemia\n'}


{'id': 'HP_0003340', 'url': 'http://purl.obolibrary.org/obo/HP_0003340', 'lbl': 'obsolete Abnormal dermatological laboratory findings', 'desc': 'label: obsolete Abnormal dermatological laboratory findings\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003341', 'url': 'http://purl.obolibrary.org/obo/HP_0003341', 'lbl': 'Lamina lucida cleavage', 'desc': 'label: Lamina lucida cleavage\ndefinition : The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.\nsynonyms :Blistering with junctional split; Junctional split; Subepidermal blistering with cleavage in the lamina lucida\n'}


{'id': 'HP_0003343', 'url': 'http://purl.obolibrary.org/obo/HP_0003343', 'lbl': 'Reduced glutathione synthetase level', 'desc': 'label: Reduced glutathione synthetase level\ndefinition : Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline.\nsynonyms :Glutathione synthetase deficiency\n'}


{'id': 'HP_0003344', 'url': 'http://purl.obolibrary.org/obo/HP_0003344', 'lbl': '3-Methylglutaric aciduria', 'desc': 'label: 3-Methylglutaric aciduria\ndefinition : An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine.\nsynonyms :3-methylglutaricaciduria\n'}


{'id': 'HP_0003345', 'url': 'http://purl.obolibrary.org/obo/HP_0003345', 'lbl': 'Elevated urinary norepinephrine', 'desc': 'label: Elevated urinary norepinephrine\ndefinition : An increased concentration of noradrenaline in the urine.\nsynonyms :\n'}


{'id': 'HP_0003347', 'url': 'http://purl.obolibrary.org/obo/HP_0003347', 'lbl': 'Impaired lymphocyte transformation with phytohemagglutinin', 'desc': 'label: Impaired lymphocyte transformation with phytohemagglutinin\ndefinition : Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.\nsynonyms :\n'}


{'id': 'HP_0003348', 'url': 'http://purl.obolibrary.org/obo/HP_0003348', 'lbl': 'Hyperalaninemia', 'desc': 'label: Hyperalaninemia\ndefinition : An increased concentration of alanine in the blood.\nsynonyms :Increased blood alanine; Increased serum alanine\n'}


{'id': 'HP_0003349', 'url': 'http://purl.obolibrary.org/obo/HP_0003349', 'lbl': 'Low cholesterol esterification rate', 'desc': 'label: Low cholesterol esterification rate\ndefinition : A reduction in the rate of cholesterol esterification.\nsynonyms :\n'}


{'id': 'HP_0003351', 'url': 'http://purl.obolibrary.org/obo/HP_0003351', 'lbl': 'Decreased circulating renin level', 'desc': 'label: Decreased circulating renin level\ndefinition : An decreased level of renin in the blood.\nsynonyms :Decreased plasma renin activity; Low plasma renin activity; Suppressed plasma renin activity\n'}


{'id': 'HP_0003352', 'url': 'http://purl.obolibrary.org/obo/HP_0003352', 'lbl': 'Endopolyploidy on chromosome studies of bone marrow', 'desc': 'label: Endopolyploidy on chromosome studies of bone marrow\ndefinition : An increase in the number of chromosome sets per cell in bone marrow cells.\nsynonyms :\n'}


{'id': 'HP_0003353', 'url': 'http://purl.obolibrary.org/obo/HP_0003353', 'lbl': 'Propionyl-CoA carboxylase deficiency', 'desc': 'label: Propionyl-CoA carboxylase deficiency\ndefinition : An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase.\nsynonyms :\n'}


{'id': 'HP_0003354', 'url': 'http://purl.obolibrary.org/obo/HP_0003354', 'lbl': 'Hyperthreoninemia', 'desc': 'label: Hyperthreoninemia\ndefinition : An increased concentration of threonine in the blood.\nsynonyms :Elevated circulating threonine; High blood threonine levels\n'}


{'id': 'HP_0003355', 'url': 'http://purl.obolibrary.org/obo/HP_0003355', 'lbl': 'Aminoaciduria', 'desc': 'label: Aminoaciduria\ndefinition : An increased concentration of an amino acid in the urine.\nsynonyms :High urine amino acid levels; Hyperaminoaciduria; Increased levels of animo acids in urine; Abnormal urinary amino-acid findings\n'}


{'id': 'HP_0003357', 'url': 'http://purl.obolibrary.org/obo/HP_0003357', 'lbl': 'Thymic hormone decreased', 'desc': 'label: Thymic hormone decreased\ndefinition : A reduction in the level of thymic horomone.\nsynonyms :Decreased thymic hormone\n'}


{'id': 'HP_0003358', 'url': 'http://purl.obolibrary.org/obo/HP_0003358', 'lbl': 'Elevated intracellular cystine', 'desc': 'label: Elevated intracellular cystine\ndefinition : An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.\nsynonyms :\n'}


{'id': 'HP_0003359', 'url': 'http://purl.obolibrary.org/obo/HP_0003359', 'lbl': 'Decreased urinary sulfate', 'desc': 'label: Decreased urinary sulfate\ndefinition : Decreased concentration of sulfate in the urine.\nsynonyms :Decreased urinary sulfate; Decreased urinary sulphate\n'}


{'id': 'HP_0003361', 'url': 'http://purl.obolibrary.org/obo/HP_0003361', 'lbl': 'Tryptophanuria', 'desc': 'label: Tryptophanuria\ndefinition : An increased concentration of tryptophan in the urine.\nsynonyms :High urine tryptophan levels\n'}


{'id': 'HP_0003362', 'url': 'http://purl.obolibrary.org/obo/HP_0003362', 'lbl': 'Increased VLDL cholesterol concentration', 'desc': 'label: Increased VLDL cholesterol concentration\ndefinition : An increase in the amount of very-low-density lipoprotein cholesterol in the blood.\nsynonyms :Increased circulating very-low-density lipoprotein cholesterol; Increased circulating very-low-density lipoprotein levels; Increased plasma VLDL cholesterol\n'}


{'id': 'HP_0003363', 'url': 'http://purl.obolibrary.org/obo/HP_0003363', 'lbl': 'Abdominal situs inversus', 'desc': 'label: Abdominal situs inversus\ndefinition : A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen.\nsynonyms :Situs inversus visceralis; Situs inversus viscerum\n'}


{'id': 'HP_0003365', 'url': 'http://purl.obolibrary.org/obo/HP_0003365', 'lbl': 'Arthralgia of the hip', 'desc': 'label: Arthralgia of the hip\ndefinition : Joint pain affecting the hip.\nsynonyms :Coxalgia; Hip arthralgia; Hip joint pain\n'}


{'id': 'HP_0003366', 'url': 'http://purl.obolibrary.org/obo/HP_0003366', 'lbl': 'Abnormal femoral neck/head morphology', 'desc': 'label: Abnormal femoral neck/head morphology\ndefinition : \nsynonyms :Abnormal neck or head of thigh bone; Abnormality of the femoral neck or head region\n'}


{'id': 'HP_0003367', 'url': 'http://purl.obolibrary.org/obo/HP_0003367', 'lbl': 'Abnormal femoral neck morphology', 'desc': 'label: Abnormal femoral neck morphology\ndefinition : An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).\nsynonyms :Abnormal neck of thigh bone; Abnormality of the femoral neck\n'}


{'id': 'HP_0003368', 'url': 'http://purl.obolibrary.org/obo/HP_0003368', 'lbl': 'Abnormal femoral head morphology', 'desc': 'label: Abnormal femoral head morphology\ndefinition : An abnormality of the femoral head.\nsynonyms :Abnormal head of thigh bone; Abnormality of the femoral head\n'}


{'id': 'HP_0003370', 'url': 'http://purl.obolibrary.org/obo/HP_0003370', 'lbl': 'Flat capital femoral epiphysis', 'desc': 'label: Flat capital femoral epiphysis\ndefinition : An abnormal flattening of the proximal epiphysis of the femur.\nsynonyms :Flat capital femoral epiphyses; Flat end part of innermost thighbone; Flat femoral capital epiphyses; Flat proximal femoral epiphyses; Flattened proximal femoral epiphyses\n'}


{'id': 'HP_0003371', 'url': 'http://purl.obolibrary.org/obo/HP_0003371', 'lbl': 'Enlargement of the proximal femoral epiphysis', 'desc': 'label: Enlargement of the proximal femoral epiphysis\ndefinition : An abnormal enlargement of the proximal epiphysis of the femur.\nsynonyms :Enlarged capital femoral epiphyses; Enlarged end part of innermost thighbone\n'}


{'id': 'HP_0003375', 'url': 'http://purl.obolibrary.org/obo/HP_0003375', 'lbl': 'Narrow greater sciatic notch', 'desc': 'label: Narrow greater sciatic notch\ndefinition : A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.\nsynonyms :Narrow greater sacrosciatic notches; Narrow sacroiliac notch; Narrow sacrosciatic notch; Narrow sciatic notches; Narrowed greater sciatic notch; Narrowed sacrosciatic notch; Small sacrosciatic notch; Small sacrosciatic notches\n'}


{'id': 'HP_0003376', 'url': 'http://purl.obolibrary.org/obo/HP_0003376', 'lbl': 'Steppage gait', 'desc': 'label: Steppage gait\ndefinition : An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.\nsynonyms :High stepping\n'}


{'id': 'HP_0003378', 'url': 'http://purl.obolibrary.org/obo/HP_0003378', 'lbl': 'Axonal degeneration/regeneration', 'desc': 'label: Axonal degeneration/regeneration\ndefinition : A pattern of simultaneous degeneration and regeneration of axons (see comment).\nsynonyms :Axon degeneration and regeneration\n'}


{'id': 'HP_0003380', 'url': 'http://purl.obolibrary.org/obo/HP_0003380', 'lbl': 'Decreased number of peripheral myelinated nerve fibers', 'desc': 'label: Decreased number of peripheral myelinated nerve fibers\ndefinition : A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).\nsynonyms :Decreased number of large and small myelinated fibers; Decreased number of large and small myelinated fibres; Decreased number of peripheral myelinated nerve fibres; Loss of myelinated fibers; Loss of myelinated fibres\n'}


{'id': 'HP_0003382', 'url': 'http://purl.obolibrary.org/obo/HP_0003382', 'lbl': 'Hypertrophic nerve changes', 'desc': 'label: Hypertrophic nerve changes\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003383', 'url': 'http://purl.obolibrary.org/obo/HP_0003383', 'lbl': 'Onion bulb formation', 'desc': 'label: Onion bulb formation\ndefinition : Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.\nsynonyms :Onion bulb formations\n'}


{'id': 'HP_0003384', 'url': 'http://purl.obolibrary.org/obo/HP_0003384', 'lbl': 'Peripheral axonal atrophy', 'desc': 'label: Peripheral axonal atrophy\ndefinition : Atrophic changes of axons of the peripheral nervous system.\nsynonyms :\n'}


{'id': 'HP_0003387', 'url': 'http://purl.obolibrary.org/obo/HP_0003387', 'lbl': 'Decreased number of large peripheral myelinated nerve fibers', 'desc': 'label: Decreased number of large peripheral myelinated nerve fibers\ndefinition : A reduced number of large myelinated nerve fibers.\nsynonyms :Decreased number of large peripheral myelinated nerve fibres; Depletion of large myelinated fibers; Depletion of large myelinated fibres; Loss of large myelinated fibers; Loss of large myelinated fibres; Loss of larger myelinated nerve fibers; Loss of larger myelinated nerve fibres\n'}


{'id': 'HP_0003388', 'url': 'http://purl.obolibrary.org/obo/HP_0003388', 'lbl': 'Easy fatigability', 'desc': 'label: Easy fatigability\ndefinition : Increased susceptibility to fatigue.\nsynonyms :Tired easily\n'}


{'id': 'HP_0003390', 'url': 'http://purl.obolibrary.org/obo/HP_0003390', 'lbl': 'Sensory axonal neuropathy', 'desc': 'label: Sensory axonal neuropathy\ndefinition : An axonal neuropathy of peripheral sensory nerves.\nsynonyms :Axonal sensory neuropathy; Peripheral sensory axonal neuropathy\n'}


{'id': 'HP_0003391', 'url': 'http://purl.obolibrary.org/obo/HP_0003391', 'lbl': 'Gowers sign', 'desc': 'label: Gowers sign\ndefinition : A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.\nsynonyms :Gower sign; Positive Gower sign; Positive Gowers sign\n'}


{'id': 'HP_0003392', 'url': 'http://purl.obolibrary.org/obo/HP_0003392', 'lbl': 'First dorsal interossei muscle weakness', 'desc': 'label: First dorsal interossei muscle weakness\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003393', 'url': 'http://purl.obolibrary.org/obo/HP_0003393', 'lbl': 'Thenar muscle atrophy', 'desc': 'label: Thenar muscle atrophy\ndefinition : Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.\nsynonyms :Thenar atrophy\n'}


{'id': 'HP_0003394', 'url': 'http://purl.obolibrary.org/obo/HP_0003394', 'lbl': 'Muscle spasm', 'desc': 'label: Muscle spasm\ndefinition : Sudden and involuntary contractions of one or more muscles.\nsynonyms :Muscle cramps\n'}


{'id': 'HP_0003396', 'url': 'http://purl.obolibrary.org/obo/HP_0003396', 'lbl': 'Syringomyelia', 'desc': 'label: Syringomyelia\ndefinition : Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.\nsynonyms :Fluid-filled cyst in spinal cord; Syrinx\n'}


{'id': 'HP_0003397', 'url': 'http://purl.obolibrary.org/obo/HP_0003397', 'lbl': 'Generalized hypotonia due to defect at the neuromuscular junction', 'desc': 'label: Generalized hypotonia due to defect at the neuromuscular junction\ndefinition : \nsynonyms :Generalised hypotonia due to defect at the neuromuscular junction\n'}


{'id': 'HP_0003398', 'url': 'http://purl.obolibrary.org/obo/HP_0003398', 'lbl': 'Abnormal synaptic transmission at the neuromuscular junction', 'desc': 'label: Abnormal synaptic transmission at the neuromuscular junction\ndefinition : Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.\nsynonyms :Abnormality of neuromuscular transmission\n'}


{'id': 'HP_0003400', 'url': 'http://purl.obolibrary.org/obo/HP_0003400', 'lbl': 'Basal lamina onion bulb formation', 'desc': "label: Basal lamina onion bulb formation\ndefinition : A type of onion bulb formation prominently affecting the area of the basal lamina.\nsynonyms :Basal lamina 'onion bulb' formations on nerve biopsy\n"}


{'id': 'HP_0003401', 'url': 'http://purl.obolibrary.org/obo/HP_0003401', 'lbl': 'Paresthesia', 'desc': 'label: Paresthesia\ndefinition : Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.\nsynonyms :Paresthesias; Pins and needles feeling; Tingling\n'}


{'id': 'HP_0003402', 'url': 'http://purl.obolibrary.org/obo/HP_0003402', 'lbl': 'Decreased miniature endplate potentials', 'desc': 'label: Decreased miniature endplate potentials\ndefinition : An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.\nsynonyms :Decreased MEPP; Small miniature endplate currents; Small miniature endplate potentials\n'}


{'id': 'HP_0003403', 'url': 'http://purl.obolibrary.org/obo/HP_0003403', 'lbl': 'EMG: decremental response of compound muscle action potential to repetitive nerve stimulation', 'desc': 'label: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation\ndefinition : A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.\nsynonyms :EMG: decremental response of CMAP to repetitive nerve stimulation; EMG: decrement at repetitive stimulation\n'}


{'id': 'HP_0003405', 'url': 'http://purl.obolibrary.org/obo/HP_0003405', 'lbl': 'Diffuse axonal swelling', 'desc': 'label: Diffuse axonal swelling\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003406', 'url': 'http://purl.obolibrary.org/obo/HP_0003406', 'lbl': 'Peripheral nerve compression', 'desc': 'label: Peripheral nerve compression\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003409', 'url': 'http://purl.obolibrary.org/obo/HP_0003409', 'lbl': 'Distal sensory impairment of all modalities', 'desc': 'label: Distal sensory impairment of all modalities\ndefinition : Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities.\nsynonyms :Distal sensory loss to all modalities\n'}


{'id': 'HP_0003411', 'url': 'http://purl.obolibrary.org/obo/HP_0003411', 'lbl': 'Proximal femoral metaphyseal irregularity', 'desc': 'label: Proximal femoral metaphyseal irregularity\ndefinition : Irregularity of the normally smooth surface of the proximal metaphysis of the femur.\nsynonyms :Irregular proximal femoral metaphyses\n'}


{'id': 'HP_0003413', 'url': 'http://purl.obolibrary.org/obo/HP_0003413', 'lbl': 'Atlantoaxial abnormality', 'desc': 'label: Atlantoaxial abnormality\ndefinition : An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.\nsynonyms :\n'}


{'id': 'HP_0003414', 'url': 'http://purl.obolibrary.org/obo/HP_0003414', 'lbl': 'Atlantoaxial dislocation', 'desc': 'label: Atlantoaxial dislocation\ndefinition : Partial dislocation of the atlantoaxial joint.\nsynonyms :Atlanto-axial subluxation; Atlantoaxial subluxation\n'}


{'id': 'HP_0003416', 'url': 'http://purl.obolibrary.org/obo/HP_0003416', 'lbl': 'Spinal canal stenosis', 'desc': 'label: Spinal canal stenosis\ndefinition : An abnormal narrowing of the spinal canal.\nsynonyms :Narrow spinal canal; Spinal stenosis\n'}


{'id': 'HP_0003417', 'url': 'http://purl.obolibrary.org/obo/HP_0003417', 'lbl': 'Coronal cleft vertebrae', 'desc': 'label: Coronal cleft vertebrae\ndefinition : Frontal schisis (cleft or cleavage) of vertebral bodies.\nsynonyms :Coronal clefts; Coronal vertebral clefts; Vertebral coronal clefts; coronal cleft of vertebrae\n'}


{'id': 'HP_0003418', 'url': 'http://purl.obolibrary.org/obo/HP_0003418', 'lbl': 'Back pain', 'desc': 'label: Back pain\ndefinition : An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.\nsynonyms :Back pain\n'}


{'id': 'HP_0003419', 'url': 'http://purl.obolibrary.org/obo/HP_0003419', 'lbl': 'Low back pain', 'desc': 'label: Low back pain\ndefinition : An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.\nsynonyms :Lower back pain\n'}


{'id': 'HP_0003421', 'url': 'http://purl.obolibrary.org/obo/HP_0003421', 'lbl': 'obsolete Platyspondyly (childhood)', 'desc': 'label: obsolete Platyspondyly (childhood)\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003422', 'url': 'http://purl.obolibrary.org/obo/HP_0003422', 'lbl': 'Vertebral segmentation defect', 'desc': 'label: Vertebral segmentation defect\ndefinition : An abnormality related to a defect of vertebral separation during development.\nsynonyms :Abnormal spinal segmentation\n'}


{'id': 'HP_0003423', 'url': 'http://purl.obolibrary.org/obo/HP_0003423', 'lbl': 'Thoracolumbar kyphoscoliosis', 'desc': 'label: Thoracolumbar kyphoscoliosis\ndefinition : \nsynonyms :Dorsolumbar kyphosis\n'}


{'id': 'HP_0003426', 'url': 'http://purl.obolibrary.org/obo/HP_0003426', 'lbl': 'First dorsal interossei muscle atrophy', 'desc': 'label: First dorsal interossei muscle atrophy\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003427', 'url': 'http://purl.obolibrary.org/obo/HP_0003427', 'lbl': 'Thenar muscle weakness', 'desc': 'label: Thenar muscle weakness\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003429', 'url': 'http://purl.obolibrary.org/obo/HP_0003429', 'lbl': 'CNS hypomyelination', 'desc': 'label: CNS hypomyelination\ndefinition : Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.\nsynonyms :\n'}


{'id': 'HP_0003431', 'url': 'http://purl.obolibrary.org/obo/HP_0003431', 'lbl': 'Decreased motor nerve conduction velocity', 'desc': 'label: Decreased motor nerve conduction velocity\ndefinition : A type of decreased nerve conduction velocity that affects the motor neuron.\nsynonyms :Decreased motor NCV; Decreased motor nerve conduction velocities; Reduced motor nerve conduction velocity\n'}


{'id': 'HP_0003434', 'url': 'http://purl.obolibrary.org/obo/HP_0003434', 'lbl': 'Sensory ataxic neuropathy', 'desc': 'label: Sensory ataxic neuropathy\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003435', 'url': 'http://purl.obolibrary.org/obo/HP_0003435', 'lbl': 'Cold-induced hand cramps', 'desc': 'label: Cold-induced hand cramps\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003436', 'url': 'http://purl.obolibrary.org/obo/HP_0003436', 'lbl': 'Prolonged miniature endplate currents', 'desc': 'label: Prolonged miniature endplate currents\ndefinition : An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.\nsynonyms :Prolonged MEPC; Prolonged MEPP; Prolonged miniature endplate potentials\n'}


{'id': 'HP_0003438', 'url': 'http://purl.obolibrary.org/obo/HP_0003438', 'lbl': 'Absent Achilles reflex', 'desc': 'label: Absent Achilles reflex\ndefinition : Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.\nsynonyms :Absent ankle reflexes\n'}


{'id': 'HP_0003440', 'url': 'http://purl.obolibrary.org/obo/HP_0003440', 'lbl': 'Horizontal sacrum', 'desc': 'label: Horizontal sacrum\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003443', 'url': 'http://purl.obolibrary.org/obo/HP_0003443', 'lbl': 'Decreased size of nerve terminals', 'desc': 'label: Decreased size of nerve terminals\ndefinition : A reduction in the size of nerve terminals.\nsynonyms :\n'}


{'id': 'HP_0003444', 'url': 'http://purl.obolibrary.org/obo/HP_0003444', 'lbl': 'EMG: chronic denervation signs', 'desc': 'label: EMG: chronic denervation signs\ndefinition : Evidence of chronic denervation on electromyography.\nsynonyms :\n'}


{'id': 'HP_0003445', 'url': 'http://purl.obolibrary.org/obo/HP_0003445', 'lbl': 'EMG: neuropathic changes', 'desc': 'label: EMG: neuropathic changes\ndefinition : The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).\nsynonyms :EMG: neurogenic abnormalities; EMG: neurogenic changes; EMG: neurogenic findings\n'}


{'id': 'HP_0003447', 'url': 'http://purl.obolibrary.org/obo/HP_0003447', 'lbl': 'Axonal loss', 'desc': 'label: Axonal loss\ndefinition : A reduction in the number of axons in the peripheral nervous system.\nsynonyms :\n'}


{'id': 'HP_0003448', 'url': 'http://purl.obolibrary.org/obo/HP_0003448', 'lbl': 'Decreased sensory nerve conduction velocity', 'desc': 'label: Decreased sensory nerve conduction velocity\ndefinition : Reduced speed of conduction of the action potential along a sensory nerve.\nsynonyms :Decreased sensory NCV; Decreased sensory nerve conduction velocities\n'}


{'id': 'HP_0003449', 'url': 'http://purl.obolibrary.org/obo/HP_0003449', 'lbl': 'Cold-induced muscle cramps', 'desc': 'label: Cold-induced muscle cramps\ndefinition : Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.\nsynonyms :\n'}


{'id': 'HP_0003450', 'url': 'http://purl.obolibrary.org/obo/HP_0003450', 'lbl': 'Axonal regeneration', 'desc': 'label: Axonal regeneration\ndefinition : The presence of axonal regeneration following a previous axonal lesion.\nsynonyms :Regenerative activity on nerve biopsy\n'}


{'id': 'HP_0003451', 'url': 'http://purl.obolibrary.org/obo/HP_0003451', 'lbl': 'Increased rate of premature chromosome condensation', 'desc': 'label: Increased rate of premature chromosome condensation\ndefinition : An increased rate of premature chromosome condensation.\nsynonyms :\n'}


{'id': 'HP_0003452', 'url': 'http://purl.obolibrary.org/obo/HP_0003452', 'lbl': 'Increased serum iron', 'desc': 'label: Increased serum iron\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003453', 'url': 'http://purl.obolibrary.org/obo/HP_0003453', 'lbl': 'Antineutrophil antibody positivity', 'desc': 'label: Antineutrophil antibody positivity\ndefinition : The presence of autoantibodies in the serum that react against neutrophils.\nsynonyms :Antineutrophil antibodies; Neutrophil antibody positive\n'}


{'id': 'HP_0003454', 'url': 'http://purl.obolibrary.org/obo/HP_0003454', 'lbl': 'Platelet antibody positive', 'desc': 'label: Platelet antibody positive\ndefinition : The presence in the serum of autoantibodies directed against thrombocytes.\nsynonyms :Platelet antibody\n'}


{'id': 'HP_0003455', 'url': 'http://purl.obolibrary.org/obo/HP_0003455', 'lbl': 'Elevated circulating long chain fatty acid concentration', 'desc': 'label: Elevated circulating long chain fatty acid concentration\ndefinition : Increased concentration of long-chain fatty acids in the blood circulation.\nsynonyms :Elevated long chain fatty acids; Elevated serum long-chain fatty acids; Increased serum long-chain fatty acids\n'}


{'id': 'HP_0003456', 'url': 'http://purl.obolibrary.org/obo/HP_0003456', 'lbl': 'Low urinary cyclic AMP response to PTH administration', 'desc': 'label: Low urinary cyclic AMP response to PTH administration\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003457', 'url': 'http://purl.obolibrary.org/obo/HP_0003457', 'lbl': 'EMG abnormality', 'desc': 'label: EMG abnormality\ndefinition : Abnormal results of investigations using electromyography (EMG).\nsynonyms :Abnormal EMG; Abnormal electromyography finding; EMG abnormalities; Electromyogram abnormal\n'}


{'id': 'HP_0003458', 'url': 'http://purl.obolibrary.org/obo/HP_0003458', 'lbl': 'EMG: myopathic abnormalities', 'desc': 'label: EMG: myopathic abnormalities\ndefinition : The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.\nsynonyms :EMG: myopathic changes; EMG: myopathy; Myopathic electromyogram\n'}


{'id': 'HP_0003459', 'url': 'http://purl.obolibrary.org/obo/HP_0003459', 'lbl': 'Polyclonal elevation of IgM', 'desc': 'label: Polyclonal elevation of IgM\ndefinition : A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.\nsynonyms :\n'}


{'id': 'HP_0003460', 'url': 'http://purl.obolibrary.org/obo/HP_0003460', 'lbl': 'Decreased circulating total IgA', 'desc': 'label: Decreased circulating total IgA\ndefinition : Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).\nsynonyms :Decreased total IgA in blood; Total immunoglobulin A deficiency\n'}


{'id': 'HP_0003461', 'url': 'http://purl.obolibrary.org/obo/HP_0003461', 'lbl': 'Increased urinary O-linked sialopeptides', 'desc': 'label: Increased urinary O-linked sialopeptides\ndefinition : Excretion of peptides conjugated to sialic acid in the urine.\nsynonyms :\n'}


{'id': 'HP_0003462', 'url': 'http://purl.obolibrary.org/obo/HP_0003462', 'lbl': 'Elevated 8-dehydrocholesterol', 'desc': 'label: Elevated 8-dehydrocholesterol\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003463', 'url': 'http://purl.obolibrary.org/obo/HP_0003463', 'lbl': 'Increased extraneuronal autofluorescent lipopigment', 'desc': 'label: Increased extraneuronal autofluorescent lipopigment\ndefinition : Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.\nsynonyms :Lipopigment in extraneuronal cells\n'}


{'id': 'HP_0003464', 'url': 'http://purl.obolibrary.org/obo/HP_0003464', 'lbl': 'obsolete Abnormal cholesterol homeostasis', 'desc': 'label: obsolete Abnormal cholesterol homeostasis\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003465', 'url': 'http://purl.obolibrary.org/obo/HP_0003465', 'lbl': 'Elevated 8(9)-cholestenol', 'desc': 'label: Elevated 8(9)-cholestenol\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003466', 'url': 'http://purl.obolibrary.org/obo/HP_0003466', 'lbl': 'Paradoxical increased cortisol secretion on dexamethasone suppression test', 'desc': 'label: Paradoxical increased cortisol secretion on dexamethasone suppression test\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003467', 'url': 'http://purl.obolibrary.org/obo/HP_0003467', 'lbl': 'Atlantoaxial instability', 'desc': 'label: Atlantoaxial instability\ndefinition : Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.\nsynonyms :\n'}


{'id': 'HP_0003468', 'url': 'http://purl.obolibrary.org/obo/HP_0003468', 'lbl': 'Abnormal vertebral morphology', 'desc': 'label: Abnormal vertebral morphology\ndefinition : An abnormality of one or more of the vertebrae.\nsynonyms :Abnormal vertebrae; Abnormality of the vertebrae; Vertebral anomalies; Abnormal vertebral bodies; Multiple vertebral anomalies\n'}


{'id': 'HP_0003469', 'url': 'http://purl.obolibrary.org/obo/HP_0003469', 'lbl': 'Peripheral dysmyelination', 'desc': 'label: Peripheral dysmyelination\ndefinition : Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.\nsynonyms :\n'}


{'id': 'HP_0003470', 'url': 'http://purl.obolibrary.org/obo/HP_0003470', 'lbl': 'Paralysis', 'desc': 'label: Paralysis\ndefinition : Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.\nsynonyms :Inability to move; Paralysis\n'}


{'id': 'HP_0003472', 'url': 'http://purl.obolibrary.org/obo/HP_0003472', 'lbl': 'Hypocalcemic tetany', 'desc': 'label: Hypocalcemic tetany\ndefinition : Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.\nsynonyms :\n'}


{'id': 'HP_0003473', 'url': 'http://purl.obolibrary.org/obo/HP_0003473', 'lbl': 'Fatigable weakness', 'desc': 'label: Fatigable weakness\ndefinition : A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\nsynonyms :Fatigable weakness of limb muscles; Generalised muscle weakness due to defect at the neuromuscular junction; Generalized muscle weakness due to defect at the neuromuscular junction; Myasthenia; Myasthenic weakness; Proximal muscle weakness due to defect at the neuromuscular junction\n'}


{'id': 'HP_0003474', 'url': 'http://purl.obolibrary.org/obo/HP_0003474', 'lbl': 'Somatic sensory dysfunction', 'desc': 'label: Somatic sensory dysfunction\ndefinition : An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.\nsynonyms :Sensory impairment\n'}


{'id': 'HP_0003477', 'url': 'http://purl.obolibrary.org/obo/HP_0003477', 'lbl': 'Peripheral axonal neuropathy', 'desc': 'label: Peripheral axonal neuropathy\ndefinition : An abnormality characterized by disruption of the normal functioning of peripheral axons.\nsynonyms :Axonal neuropathy; Axonal peripheral neuropathy\n'}


{'id': 'HP_0003481', 'url': 'http://purl.obolibrary.org/obo/HP_0003481', 'lbl': 'Segmental peripheral demyelination/remyelination', 'desc': 'label: Segmental peripheral demyelination/remyelination\ndefinition : A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.\nsynonyms :Segmental demyelination/remyelination\n'}


{'id': 'HP_0003482', 'url': 'http://purl.obolibrary.org/obo/HP_0003482', 'lbl': 'EMG: axonal abnormality', 'desc': 'label: EMG: axonal abnormality\ndefinition : Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.\nsynonyms :\n'}


{'id': 'HP_0003484', 'url': 'http://purl.obolibrary.org/obo/HP_0003484', 'lbl': 'Upper limb muscle weakness', 'desc': 'label: Upper limb muscle weakness\ndefinition : Weakness of the muscles of the arms.\nsynonyms :Decreased arm strength; Weak arm\n'}


{'id': 'HP_0003487', 'url': 'http://purl.obolibrary.org/obo/HP_0003487', 'lbl': 'Babinski sign', 'desc': 'label: Babinski sign\ndefinition : 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.\nsynonyms :Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign\n'}


{'id': 'HP_0003489', 'url': 'http://purl.obolibrary.org/obo/HP_0003489', 'lbl': 'Acute episodes of neuropathic symptoms', 'desc': 'label: Acute episodes of neuropathic symptoms\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003490', 'url': 'http://purl.obolibrary.org/obo/HP_0003490', 'lbl': 'obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA', 'desc': 'label: obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003491', 'url': 'http://purl.obolibrary.org/obo/HP_0003491', 'lbl': 'Elevated urine pyrophosphate', 'desc': 'label: Elevated urine pyrophosphate\ndefinition : An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.\nsynonyms :\n'}


{'id': 'HP_0003492', 'url': 'http://purl.obolibrary.org/obo/HP_0003492', 'lbl': 'High urinary gonadotropin level', 'desc': 'label: High urinary gonadotropin level\ndefinition : An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.\nsynonyms :\n'}


{'id': 'HP_0003493', 'url': 'http://purl.obolibrary.org/obo/HP_0003493', 'lbl': 'Antinuclear antibody positivity', 'desc': 'label: Antinuclear antibody positivity\ndefinition : The presence of autoantibodies in the serum that react against nuclei or nuclear components.\nsynonyms :Antinuclear antibodies; Antinuclear antibody positive; Elevated antinuclear antibody; Serum antinuclear antibody\n'}


{'id': 'HP_0003494', 'url': 'http://purl.obolibrary.org/obo/HP_0003494', 'lbl': 'obsolete Loss of heterozygosity, multiple chromosomes', 'desc': 'label: obsolete Loss of heterozygosity, multiple chromosomes\ndefinition : \nsynonyms :\n'}


{'id': 'HP_0003495', 'url': 'http://purl.obolibrary.org/obo/HP_0003495', 'lbl': 'GM2-ganglioside accumulation', 'desc': 'label: GM2-ganglioside accumulation\ndefinition : Cellular accumulation of GM2 gangliosides.\nsynonyms :\n'}


{'id': 'HP_0003496', 'url': 'http://purl.obolibrary.org/obo/HP_0003496', 'lbl': 'Increased circulating IgM level', 'desc': 'label: Increased circulating IgM level\ndefinition : An abnormally increased level of immunoglobulin M in blood.\nsynonyms :Increased IgM levels; Increased levels of IgM\n'}


{'id': 'HP_0003498', 'url': 'http://purl.obolibrary.org/obo/HP_0003498', 'lbl': 'Disproportionate short stature', 'desc': 'label: Disproportionate short stature\ndefinition : A kind of short stature in which different regions of the body are shortened to differing extents.\nsynonyms :Short stature, disproportionate; Short stature, severe disproportionate\n'}


{'id': 'HP_0003502', 'url': 'http://purl.obolibrary.org/obo/HP_0003502', 'lbl': 'Mild short stature', 'desc': 'label: Mild short stature\ndefinition : A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.\nsynonyms :short stature, mild; Relative short stature\n'}


{'id': 'HP_0003508', 'url': 'http://purl.obolibrary.org/obo/HP_0003508', 'lbl': 'Proportionate short stature', 'desc': 'label: Proportionate short stature\ndefinition : A kind of short stature in which different regions of the body are shortened to a comparable extent.\nsynonyms :Proportionate small stature; Short stature, proportionate\n'}


{'id': 'HP_0003510', 'url': 'http://purl.obolibrary.org/obo/HP_0003510', 'lbl': 'Severe short stature', 'desc': 'label: Severe short stature\ndefinition : A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.\nsynonyms :Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe\n'}


{'id': 'HP_0003513', 'url': 'http://purl.obolibrary.org/obo/HP_0003513', 'lbl': 'Reduced ratio of renal calcium clearance to creatinine clearance', 'desc': 'label: Reduced ratio of renal calcium clearance to creatinine clearance\ndefinition : A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.\nsynonyms :Reduced ration of kidney calcium clearance to creatinine clearance; Reduced ration of renal Ca clearance to creatinine clearance; Reduced ration of renal Ca2+ to creatinine clearance\n'}


{'id': 'HP_0003514', 'url': 'http://purl.obolibrary.org/obo/HP_0003514', 'lbl': 'Deficiency or absence of cytochrome b(-245)', 'desc': 'label: Deficiency or absence of cytochrome b(-245)\ndefinition : \nsynonyms :Deficiency or absence of cytochrome b\n'}


{'id': 'HP_0003517', 'url': 'http://purl.obolibrary.org/obo/HP_0003517', 'lbl': 'Birth length greater than 97th percentile', 'desc': 'label: Birth length greater than 97th percentile\ndefinition : \nsynonyms :Fetal overgrowth; Foetal overgrowth\n'}


{'id': 'HP_0003521', 'url': 'http://purl.obolibrary.org/obo/HP_0003521', 'lbl': 'Disproportionate short-trunk short stature', 'desc': 'label: Disproportionate short-trunk short stature\ndefinition : A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.\nsynonyms :Disproportionate short-trunked dwarfism; Disproportionate short-trunked short stature; Short-trunked dwarfism\n'}


{'id': 'HP_0003524', 'url': 'http://purl.obolibrary.org/obo/HP_0003524', 'lbl': 'Decreased methionine synthase activity', 'desc': 'label: Decreased methionine synthase activity\ndefinition : A reduction in methionine synthase activity.\nsynonyms :Decreased activity of methionine synthase; Methionine synthase activity decreased; Methionine synthase deficiency; Reduced methionine synthase activity\n'}


{'id': 'HP_0003526', 'url': 'http://purl.obolibrary.org/obo/HP_0003526', 'lbl': 'Orotic acid crystalluria', 'desc': 'label: Orotic acid crystalluria\ndefinition : Formation of crystals owing to an increased concentration of orotic acid in the urine.\nsynonyms :\n'}


{'id': 'HP_0003527', 'url': 'http://purl.obolibrary.org/obo/HP_0003527', 'lbl': 'Hyperprostaglandinuria', 'desc': 'label: Hyperprostaglandinuria\ndefinition : An increased concentration of prostaglandin in the urine.\nsynonyms :High urine prostaglandin levels\n'}


{'id': 'HP_0003528', 'url': 'http://purl.obolibrary.org/obo/HP_0003528', 'lbl': 'Elevated calcitonin', 'desc': 'label: Elevated calcitonin\ndefinition : \nsynonyms :Elevated calcitonin\n'}


{'id': 'HP_0003529', 'url': 'http://purl.obolibrary.org/obo/HP_0003529', 'lbl': 'Parathormone-independent increased renal tubular calcium reabsorption', 'desc': 'label: Parathormone-independent increased renal tubular calcium reabsorption\ndefinition : An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.\nsynonyms :Parathormone-independent increased renal tubular Ca reabsorption; Parathormone-independent increased renal tubular Ca2+ reabsorption\n'}


{'id': 'HP_0003530', 'url': 'http://purl.obolibrary.org/obo/HP_0003530', 'lbl': 'Elevated circulating glutaric acid concentration', 'desc': 'label: Elevated circulating glutaric acid concentration\ndefinition : An increased concentration of glutaric acid in the blood.\nsynonyms :Glutarate acidemia; Glutaric acidemia\n'}


{'id': 'HP_0003532', 'url': 'http://purl.obolibrary.org/obo/HP_0003532', 'lbl': 'Ornithinuria', 'desc': 'label: Ornithinuria\ndefinition : Level of ornithine in the urine above the upper limit of normal.\nsynonyms :Ornithine high in urine\n'}


{'id': 'HP_0003533', 'url': 'http://purl.obolibrary.org/obo/HP_0003533', 'lbl': 'Reduced acetaldehyde dehydrogenase level', 'desc': 'label: Reduced acetaldehyde dehydrogenase level\ndefinition : Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism.\nsynonyms :Delayed oxidation of acetaldehyde\n'}


{'id': 'HP_0003534', 'url': 'http://purl.obolibrary.org/obo/HP_0003534', 'lbl': 'Reduced xanthine dehydrogenase level', 'desc': 'label: Reduced xanthine dehydrogenase level\ndefinition : An abnormal reduction in xanthine dehydrogenase level.\nsynonyms :Xanthine dehydrogenase deficiency\n'}


{'id': 'HP_0003535', 'url': 'http://purl.obolibrary.org/obo/HP_0003535', 'lbl': '3-Methylglutaconic aciduria', 'desc': 'label: 3-Methylglutaconic aciduria\ndefinition : An increased amount of 3-methylglutaconic acid in the urine.\nsynonyms :3-Methylglutaconicaciduria\n'}


{'id': 'HP_0003536', 'url': 'http://purl.obolibrary.org/obo/HP_0003536', 'lbl': 'Decreased fumarate hydratase activity', 'desc': 'label: Decreased fumarate hydratase activity\ndefinition : An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.\nsynonyms :\n'}


{'id': 'HP_0003537', 'url': 'http://purl.obolibrary.org/obo/HP_0003537', 'lbl': 'Hypouricemia', 'desc': 'label: Hypouricemia\ndefinition : An abnormally low level of uric acid in the blood.\nsynonyms :Low blood uric acid levels\n'}


{'id': 'HP_0003538', 'url': 'http://purl.obolibrary.org/obo/HP_0003538', 'lbl': 'Increased iduronate sulfatase level', 'desc': 'label: Increased iduronate sulfatase level\ndefinition : An increased level of iduronate-2-sulfatase activity in the blood.\nsynonyms :Increased serum iduronate sulfatase level; Increased serum iduronate sulfatase\n'}


{'id': 'HP_0003540', 'url': 'http://purl.obolibrary.org/obo/HP_0003540', 'lbl': 'Impaired platelet aggregation', 'desc': 'label: Impaired platelet aggregation\ndefinition : An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.\nsynonyms :Defective platelet aggregation; Deficient platelet aggregation; Platelet aggregation defect\n'}


{'id': 'HP_0003541', 'url': 'http://purl.obolibrary.org/obo/HP_0003541', 'lbl': 'Urinary glycosaminoglycan excretion', 'desc': 'label: Urinary glycosaminoglycan excretion\ndefinition : Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.\nsynonyms :\n'}


{'id': 'HP_0003542', 'url': 'http://purl.obolibrary.org/obo/HP_0003542', 'lbl': 'Increased serum pyruvate', 'desc': 'label: Increased serum pyruvate\ndefinition : An increased concentration of pyruvate in the blood.\nsynonyms :Increased serum pyruvic acid\n'}