| 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:0000090 | Nephronophthisis | |
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| HP:0000092 | Tubular atrophy | |
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| HP:0000108 | Corticomedullary cysts | |
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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:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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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:0001737 | Pancreatic cysts | |
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| HP:0003774 | End stage renal disease | |
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| HP:0005583 | Tubular basement membrane disintegration | |
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| HP:0006280 | Chronic pancreatitis | |
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| HP:0030186 | Kinetic tremor | "Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor." [] |
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| HP:0100702 | Arachnoid cyst | "Arachnoid cysts are filled with cerebrospinal fluid encased by arachnoidal cells." [HPO:sdoelken] |
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