| 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:0000293 | Full cheeks | |
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| HP:0000311 | Round face | "An unusually round appearance of the face." [HPO:curators] |
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| HP:0000470 | Short neck | |
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| HP:0000509 | Conjunctivitis | "Inflammation of the conjunctiva." [HPO:curators] |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000737 | Irritability | |
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| HP:0000739 | Anxiety | |
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| HP:0000824 | Growth hormone deficiency | "Insufficient production of growth hormone, which is produced by the anterior pituitary gland." [HPO:curators] |
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| HP:0000852 | Pseudohypoparathyroidism | |
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| HP:0001156 | Brachydactyly | |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
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| HP:0001657 | Prolonged QT interval on EKG | |
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| HP:0002094 | Dyspnea | |
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| HP:0002199 | Seizures due to hypocalcemia | |
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| HP:0002901 | Hypocalcemia | "A level of blood calcium that is lower than normal." [HPO:curators] |
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| HP:0002905 | Hyperphosphatemia | |
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| HP:0003034 | Diaphyseal sclerosis | |
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| HP:0003165 | Elevated serum parathyroid hormone (PTH) level | |
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| HP:0003394 | Muscle cramps | |
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| HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
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| HP:0003456 | Low urinary cyclic AMP response to PTH administration | |
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| HP:0003472 | Hypocalcemic tetany | |
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| HP:0003739 | Myoclonic spasms | |
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| HP:0003745 | Sporadic | |
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| HP:0003909 | Cortical subperiosteal resorption (humeral metaphyses) | |
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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:0005280 | Depressed nasal root and bridge | |
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| HP:0005700 | Increased bone density with cystic changes | |
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| HP:0006297 | Hypoplastic dental enamel | |
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| HP:0008227 | Pituitary resistance to thyroid hormone | "A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal." [HPO:curators] |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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| HP:0011458 | Abdominal symptom | |
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| HP:0012049 | Laryngeal dystonia | "A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech." [HPO:probinson] |
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| HP:0100660 | Dyskinesis | "A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements." [HPO:sdoelken] |
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| HP:0100749 | Chest pain | |
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