| 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:0000098 | Increased body height | |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| HP:0000280 | Coarse facial features | |
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| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000365 | Hearing loss | |
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| HP:0000366 | Abnormality of the nose | |
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| HP:0000402 | Stenotic external auditory canal | "An abnormal narrowing of the external auditory canal." [HPO:curators] |
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| HP:0000405 | Hearing loss, conductive | |
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| HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000452 | Choanal stenosis | "Abnormal narrowing of the choana (the posterior nasal aperture)." [HPO:curators] |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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| HP:0000520 | Proptosis | |
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| HP:0000529 | Progressive visual loss | |
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| HP:0000565 | Esotropia | |
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| HP:0000572 | Visual loss | |
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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:0000648 | Optic atrophy | |
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| HP:0000689 | Dental malocclusion | "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators] |
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| HP:0000772 | Abnormality of the ribs | |
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| HP:0000885 | Broad ribs | |
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| HP:0000889 | Abnormality of the clavicles | "Any abnormality of the clavicles (collar bones)." [HPO:curators] |
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| HP:0000900 | Thickened ribs | |
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| HP:0000916 | Broad clavicles | "Increased breadth of the clavicles." [HPO:curators] |
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| HP:0000935 | Thickened cortex of long bones | "Abnormal thickening of the cortex of long bones." [HPO:curators] |
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| HP:0001085 | Papilledema | "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure." [HPO:curators] |
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| HP:0001133 | Constricted visual fields | |
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| HP:0001233 | 2-3 finger syndactyly | "`Syndactyly` (HP:0001159) with fusion of fingers two and three." [HPO:sdoelken] |
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| HP:0001249 | Mental retardation | |
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| HP:0001349 | Facial diplegia | "Facial diplegia refers to simultaneous facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy)." [HPO:curators] |
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| HP:0001474 | Sclerotic scapulae | |
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| HP:0001548 | Overgrowth | |
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| HP:0001699 | Sudden death | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
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| HP:0002516 | Increased intracranial pressure | |
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| HP:0002644 | Abnormality of the pelvis | "An abnormality of the bony pelvis (pelvic girdle); which is a ring of bones connecting the vertebral column to the femurs." [HPO:curators] |
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| HP:0003034 | Diaphyseal sclerosis | |
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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:0003155 | Elevated alkaline phosphatase | "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] |
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| HP:0003165 | Elevated serum parathyroid hormone (PTH) level | |
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| HP:0003593 | Early onset | |
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| HP:0003676 | Progressive disorder | |
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| HP:0004097 | Deviated fingers | "Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges." [HPO:curators] |
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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:0004437 | Cranial hyperostosis | "Excessive growth of the cranial bones." [HPO:curators] |
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| HP:0004493 | Craniofacial hyperostosis | "Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). This term is used for excessive growth of the craniofacial bones." [HPO:curators] |
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| HP:0004576 | Sclerotic vertebral endplates | "Sclerosis (increased density) affecting vertebral end plates." [HPO:curators] |
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| HP:0005019 | Diaphyseal thickening | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005464 | Craniofacial hyperostosis and sclerosis | |
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| HP:0005789 | Osteosclerosis, diffuse symmetrical | |
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| HP:0006415 | Cortically dense long tubular bones | |
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| HP:0006824 | Cranial nerve paralysis | |
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| HP:0007285 | Facial palsy, secondary to cranial hyperostosis | "Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve." [HPO:curators] |
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| HP:0007958 | Optic atrophy from cranial nerve compression | |
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| HP:0009838 | Curved distal phalanges of the hand | |
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| HP:0010628 | Facial muscle weakness | "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators] |
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| HP:0011001 | Increased bone mineral density | "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." [HPO:curators] |
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| HP:0011120 | Saddle nose | "A depression of the dorsum of the nose with loss of nasal tip support and definition, shortened (vertical) nasal length, overrotation of the nasal tip, and retrusion of the nasal spine and caudal septum." [HPO:probinson] |
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| HP:0011800 | Midface retrusion | "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith] |
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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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| HP:0100798 | Fingernail dysplasia | "An abnormality of the development of the fingernails." [HPO:probinson] |
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