| 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:0000111 | Renal juxtaglomerular cell hypertrophy/hyperplasia | |
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| HP:0000121 | Nephrocalcinosis | |
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| HP:0000127 | Renal salt wasting | |
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| HP:0000128 | Renal potassium wasting | |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000325 | Triangular facies | |
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| HP:0000400 | Large ears | |
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| HP:0000841 | Hyperactive renin-angiotensin system | |
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| HP:0000848 | Increased plasma renin | |
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| HP:0000859 | Increased plasma aldosterone | |
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| HP:0000934 | Chondrocalcinosis | |
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| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
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| HP:0001090 | Large eyes | |
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| HP:0001249 | Mental retardation | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001281 | Tetany | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001518 | Low birth weight | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001563 | Fetal polyuria | |
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| HP:0001622 | Premature birth | |
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| HP:0001944 | Dehydration | |
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| HP:0001945 | Fever | |
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| HP:0001959 | Polydipsia | |
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| HP:0001960 | Hypokalemic metabolic alkalosis | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002013 | Vomiting | |
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| HP:0002014 | Diarrhea | |
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| HP:0002019 | Constipation | |
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| HP:0002150 | Hypercalciuria | |
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| HP:0002632 | Low-to-normal blood pressure | |
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| HP:0002900 | Hypokalemia | |
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| HP:0002914 | Increased urinary chloride | |
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| HP:0002917 | Hypomagnesemia | |
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| HP:0003081 | Increased urinary potassium | |
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| HP:0003113 | Hypochloremia | |
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| HP:0003158 | Hyposthenuria | |
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| HP:0003324 | Generalized muscle weakness | "Generalized weakness or decreased strength of the muscles." [HPO:curators] |
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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:0003527 | Hyperprostaglandinuria | |
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| HP:0003540 | Abnormal platelet aggregation | |
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| HP:0003566 | Increased serum prostaglandin E | |
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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:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
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