| 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:0000074 | Ureteropelvic junction obstruction | |
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| HP:0000076 | Vesicoureteral reflux | "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators] |
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| HP:0000085 | Horseshoe kidney | |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000275 | Narrow face | |
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| HP:0000278 | Retrognathia | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0001003 | Multiple lentigines | |
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| HP:0001045 | Vitiligo | |
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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:0001258 | Spastic paraplegia | |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0002064 | Spastic gait | |
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| HP:0002218 | Silver-gray hair | |
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| HP:0002515 | Waddling gait | |
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| HP:0002607 | Bowel incontinence | |
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| HP:0002751 | Kyphoscoliosis | |
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| HP:0002827 | Dislocated hips | |
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| HP:0003487 | Babinski sign | "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." [HPO:curators] |
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| HP:0003577 | Onset at birth | |
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| HP:0003774 | End stage renal disease | |
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| HP:0003829 | Incomplete penetrance | |
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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:0004771 | premature graying of body hair | |
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| HP:0005586 | Hyperpigmentation in sun-exposed areas | |
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| HP:0007340 | Lower limb muscle weakness | "Weakness of the muscles of the legs." [HPO:curators] |
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| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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| HP:0012701 | Bowel urgency | "A sudden, irresistible need to have a bowel movement." [UToronto:htrang] |
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| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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