| 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:0000121 | Nephrocalcinosis | |
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| HP:0000164 | Abnormality of the teeth | "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators] |
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| HP:0000268 | Dolichocephaly | |
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| HP:0000520 | Proptosis | |
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| HP:0000592 | Blue sclerae | |
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| HP:0000670 | Carious teeth | |
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| HP:0000737 | Irritability | |
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| HP:0000773 | Short ribs | |
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| HP:0000897 | Rachitic rosary | |
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| HP:0000926 | Platyspondyly | |
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| HP:0000934 | Chondrocalcinosis | |
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| HP:0001024 | Skin dimple over apex of long bone angulation | |
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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: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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001363 | Craniosynostosis | "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001522 | Death in infancy | |
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| HP:0001561 | Polyhydramnios | |
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| HP:0001608 | Abnormality of the voice | "Any abnormality of the voice." [HPO:curators] |
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| HP:0001760 | Abnormality of the feet | "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators] |
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| HP:0001903 | Anemia | |
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| HP:0001945 | Fever | |
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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:0002019 | Constipation | |
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| HP:0002039 | Anorexia | |
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| HP:0002104 | Apnea | "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] |
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| HP:0002150 | Hypercalciuria | |
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| HP:0002170 | Intracranial hemorrhage | "A hemorrhage (bleeding) occuring within the skull." [HPO:curators] |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002515 | Waddling gait | |
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| HP:0002659 | Increased susceptibility to fractures | "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken] |
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| HP:0002748 | Rickets | |
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| HP:0002749 | Osteomalacia | "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators] |
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| HP:0002756 | Pathologic fracture | "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators] |
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| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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| HP:0002979 | Bowing of the legs | |
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| HP:0002983 | Micromelia | |
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| HP:0003021 | Metaphyseal cupping | "Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance." [HPO:curators] |
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| HP:0003072 | Hypercalcemia | "A level of blood calcium that is higher than normal." [HPO:curators] |
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| HP:0003198 | Myopathy | |
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| HP:0003239 | Phosphoethanolaminuria | |
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| HP:0003282 | Low alkaline phosphatase | "Abnormally reduced serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] |
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| HP:0003491 | Elevated plasma and urine inorganic pyrophosphate (PPI) | |
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| HP:0003826 | Stillborn or neonatal death | |
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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:0004492 | Widely patent fontanels and sutures | "An abnormally increased width of the cranial sutures of striking degree." [HPO:curators] |
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| HP:0004606 | Unossified vertebral bodies | |
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| HP:0005474 | Poorly ossified calvaria | "Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone)." [HPO:curators] |
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| HP:0006323 | Premature deciduous tooth loss | |
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| HP:0006357 | Premature loss of secondary teeth | |
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| HP:0006385 | Short lower limbs | |
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| HP:0008428 | Vertebral clefts | |
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| HP:0008873 | Short stature, disproportionate short-limbed | "A type of short stature characterized by a short limbs but an average-sized trunk." [HPO:curators] |
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| HP:0011864 | Elevated plasma pyrophosphate | "An abnormally increased `diphosphate(4-)` (CHEBI:18361) concentration in the `blood` (FMA:9670). Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate." [HPO:probinson] |
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