| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000103 | Polyuria | |
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| HP:0000121 | Nephrocalcinosis | |
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| HP:0000648 | Optic atrophy | |
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| HP:0000712 | Emotional lability | |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000739 | Anxiety | |
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| HP:0000774 | Narrow chest | |
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| HP:0000787 | Kidney stones | |
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| HP:0000819 | Diabetes mellitus | |
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| HP:0000820 | Abnormality of the thyroid gland | |
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| HP:0000843 | Hyperparathyroidism | |
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| HP:0000848 | Increased plasma renin | |
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| HP:0000944 | Abnormality of the metaphyses | |
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| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| HP:0000958 | Dry skin | |
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| HP:0000964 | Eczema | "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators] |
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| HP:0001231 | Abnormality of the fingernails | "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson] |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001281 | Tetany | |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001733 | Pancreatitis | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001903 | Anemia | |
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| HP:0001959 | Polydipsia | |
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| HP:0001974 | Leukocytosis | "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson] |
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| HP:0002019 | Constipation | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002094 | Dyspnea | |
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| HP:0002135 | Basal ganglia calcification | "Calcification affecting one or more structures of the basal ganglia." [HPO:curators] |
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| HP:0002148 | Hypophosphatemia | "A lower than normal level of blood phosphate." [HPO:curators] |
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| HP:0002150 | Hypercalciuria | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002356 | Writer s cramp | |
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| HP:0002516 | Increased intracranial pressure | |
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| HP:0002615 | Hypotension | |
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| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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| HP:0002789 | Tachypnea | |
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| HP:0002793 | Abnormal respiratory patterns | |
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| HP:0002900 | Hypokalemia | |
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| HP:0002901 | Hypocalcemia | "A level of blood calcium that is lower than normal." [HPO:curators] |
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| HP:0002905 | Hyperphosphatemia | |
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| HP:0002917 | Hypomagnesemia | |
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| HP:0002918 | Hypermagnesemia | |
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| HP:0003025 | Irregular metaphyses | |
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| HP:0003072 | Hypercalcemia | "A level of blood calcium that is higher than normal." [HPO:curators] |
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| HP:0003109 | Hyperphosphaturia | "An increased excretion of phosphates in the urine." [HPO:curators] |
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| HP:0003127 | Hypocalciuria | |
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| HP:0003165 | Elevated serum parathyroid hormone (PTH) level | |
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| HP:0003355 | Abnormal urinary amino-acid findings | |
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| HP:0003394 | Muscle cramps | |
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| HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
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| HP:0003457 | Abnormal EMG findings | "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] |
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| HP:0003473 | Mild-moderate fatigable weakness of limb muscles | |
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| HP:0003761 | Calcinosis | "Formation of calcium deposits in any soft tissue." [HPO:curators] |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0004349 | Reduced bone mineral density | "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators] |
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| HP:0004372 | Reduced consciousness/confusion | |
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| HP:0005213 | Pancreatic calcification | |
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| HP:0007400 | Irregular hyperpigmentation | |
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| HP:0008200 | Primary hyperparathyroidism | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0011227 | Elevated C-reactive protein level | "An abnormal elevation of the C-reactive protein level in serum." [HPO:probinson] |
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| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
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| HP:0012211 | Abnormal renal physiology | "Any functional anomaly of the `kidney` (FMA:7203)." [HPO:probinson] |
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| HP:0012379 | Abnormal enzyme/coenzyme activity | "An altered ability of any enzyme or their cofactors to act as catalysts." [HPO:probinson, MP:0005584] |
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| HP:0012608 | Hypermagnesiuria | "An increased concentration of magnesium the `urine` (FMA:12274)." [Eurenomics:fschaefer] |
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| HP:0025425 | Laryngospasm | "A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe." [] |
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| HP:0030247 | Splanchnic vein thrombosis | "The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity)." [HPO:probinson, pmid:20532730] |
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| HP:0040148 | Cortical myoclonus | |
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| HP:0100027 | Recurrent pancreatitis | "A `recurrent` (PATO:0000427) form of `pancreatitis` (HP:0001733)." [HPO:probinson] |
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| HP:0100530 | Abnormality of calcium-phosphate metabolism | |
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