| 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:0000224 | Decreased taste sensation | |
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| HP:0000478 | Abnormality of the eyes | "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators] |
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| HP:0000762 | Decreased nerve conduction velocities | |
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| HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| HP:0000970 | Anhidrosis | "Inability to sweat." [HPO:curators] |
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| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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| HP:0001069 | Hyperhidrosis, episodic | |
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| HP:0001182 | Tapered fingers | |
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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:0001265 | Hyporeflexia | |
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| HP:0001284 | Areflexia | |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001810 | Dystrophic toenails | |
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| HP:0001818 | Paronychia | "The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia)." [HPO:curators] |
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| HP:0001842 | Acroosteolysis (feet) | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0001942 | Metabolic acidosis | |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002153 | Hyperkalemia | |
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| HP:0002645 | Wormian bones | |
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| HP:0002661 | Painless fractures due to injury | "An increased tendency to fractures following trauma, with fractures occurring without pain." [HPO:curators] |
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| HP:0002815 | Abnormality of the knees | "An abnormality of the knee joint or surrounding structures." [HPO:curators] |
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| HP:0003028 | Abnormality of the ankles | |
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| HP:0003103 | Abnormality of cortical bone | "An abnormality of cortical bone (also known as compact bone), which forms the dense surface of bones." [HPO:curators] |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003272 | Abnormality of the hip | "An abnormality of the hip joint or the surrounding anatomic region." [HPO:curators] |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003380 | Decreased number of myelinated fibers | "A loss of myelinated nerve fibers (in general, this finding can be observed on nerve biopsy)." [HPO:curators] |
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| HP:0003448 | Decreased sensory nerve conduction velocities (NCV) | |
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| HP:0003593 | Early onset | |
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| HP:0003677 | Slow progression | |
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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:0004918 | hyperchloremic metabolic acidosis | |
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| HP:0005930 | Abnormality of the epiphyses | |
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| HP:0006121 | Acral ulceration leading to autoamputation of digits | |
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| HP:0008242 | Pseudohypoaldosteronism | |
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| HP:0008391 | Mildly dystrophic fingernails | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0009771 | Osteolytic defects of the phalanges of the hand | "Dissolution or degeneration of bone tissue of the phalanges of the hand." [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:0011423 | Hyperchloremia | "An abnormally increased `chloride` (CHEBI:17996) concentration in the blood." [HPO:probinson] |
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