| 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:0000091 | Abnormality of the renal tubules | |
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| HP:0000103 | Polyuria | |
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| HP:0000112 | Nephropathy | "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] |
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| HP:0000127 | Renal salt wasting | |
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| HP:0000128 | Renal potassium wasting | |
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| HP:0000376 | Mondini malformation | "The normal cochlea has two and one half turns. Mondini malformation refers to the development of only one and a half turns of the cochlea. The defect usually occurs in the seventh week of gestation after development of the basal turn. There is incomplete partition with resulting confluency of the middle and apical turns." [HPO:curators] |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000750 | Impaired language development | |
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| HP:0000805 | Enuresis | "Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible." [HPO:sdoelken] |
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| HP:0000821 | Hypothyroidism | |
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| HP:0000843 | Hyperparathyroidism | |
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| HP:0000848 | Increased plasma renin | |
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| HP:0000853 | Goiter | "An enlargement of the thyroid gland." [HPO:curators] |
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| HP:0000859 | Increased plasma aldosterone | |
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| HP:0001249 | Mental retardation | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP: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: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:0001272 | Cerebellar atrophy | |
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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:0001751 | Vestibular dysfunction | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0001959 | Polydipsia | |
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| HP:0001960 | Hypokalemic metabolic alkalosis | |
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| HP:0002075 | Dysdiadochokinesis | "An inability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee, generally related to a cerebellar lesion." [HPO:curators] |
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| HP:0002080 | Intention tremor | "An oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient s nose or a physician s finger)." [HPO:curators] |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002167 | Neurological speech impairment | |
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| HP:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
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| HP:0002342 | Mental retardation, moderate | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators] |
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| HP:0002777 | Tracheal stenosis | |
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| HP:0002890 | Thyroid carcinoma | |
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| HP:0002900 | Hypokalemia | |
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| HP:0002917 | Hypomagnesemia | |
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| HP:0003127 | Hypocalciuria | |
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| HP:0003593 | Early onset | |
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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:0007182 | Hypomyelination on nerve biopsy | |
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| HP:0007267 | Emg shows chronic axonal neuropathy | |
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| HP:0008223 | Compensated hypothyroidism | |
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| HP:0008527 | Congenital sensorineural hearing loss | |
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| HP:0008554 | Cochlear malformation | "A cochlear malformation may include a membranous abnormality, a bony abnormality, or a combination of the two." [HPO:curators] |
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| HP:0008586 | Hypoplastic cochlea | |
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| HP:0011387 | Enlarged vestibular aqueduct | "Increased size of the vestibular aqueduct." [DDD:mbitner-glidicz] |
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| HP:0012103 | Abnormality of the mitochondrion | "An anomaly of the `mitochondrion` (FMA:63835), the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The `mitochondrion` (GO:0005739) is a self replicating organelle that is the site of tissue respiration." [HPO:probinson] |
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| HP:0012606 | Renal sodium wasting | "An abnormally increased sodium concentration in the urine in the presence of hyponatremia." [Eurenomics:ewuehl] |
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| HP:0030083 | Salt craving | "An excessive desire to eat salt (sodium chloride) or salty foods." [] |
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