| 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:0000826 | Precocious puberty | "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:curators] |
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| HP:0000853 | Goiter | "An enlargement of the thyroid gland." [HPO:curators] |
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| HP:0000926 | Platyspondyly | |
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| HP:0000944 | Abnormality of the metaphyses | |
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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: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:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001903 | Anemia | |
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| HP:0001928 | Abnormality of coagulation | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002653 | Bone pain | |
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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:0002797 | Osteolysis | |
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| HP:0002893 | Pituitary adenoma | |
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| HP:0002897 | Parathyroid adenoma | |
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| HP:0002983 | Micromelia | |
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| HP:0003002 | Breast cancer | |
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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:0004936 | Venous thrombosis | |
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| HP:0005701 | Multiple enchondromatosis | |
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| HP:0006765 | Increased risk of chondrosarcoma | |
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| HP:0006824 | Cranial nerve paralysis | |
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| HP:0007461 | Hemangiomatosis | |
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| HP:0009592 | Astrocytoma | "Astrocytoma is a neoplasm of the central nervous system derived from astrocytes." [HPO:curators] |
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| HP:0012321 | D-2-hydroxyglutaric aciduria | "An increased concentration of `2-hydroxyglutaric acid` (CHEBI:17084) in the `urine` (FMA:12274)." [HPO:probinson, pmid:20847235] |
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| HP:0100021 | Cerebral paralysis | "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." [HPO:sdoelken] |
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| HP:0100615 | Ovarian neoplasm | "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson] |
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| HP:0100641 | Cortical adrenal neoplasia | |
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| HP:0100761 | Visceral angiomatosis | |
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| HP:0100764 | Lymphangioma | "Malformation of the lymphatic system." [HPO:sdoelken] |
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| HP:0100777 | Exostoses | |
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| HP:0200042 | skin ulcer | "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER] |
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