| 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:0000122 | Unilateral renal agenesis | |
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| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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| HP:0000324 | Facial asymmetry | |
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| HP:0000365 | Hearing loss | |
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| HP:0000410 | Mixed hearing loss | |
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| HP:0000465 | Webbed neck | |
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| HP:0000466 | Limited neck range of motion | |
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| HP:0000470 | Short neck | |
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| HP:0000505 | Impaired vision | |
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| HP:0000512 | Abnormal electroretinogram | "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [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:0000563 | Keratoconus | "A cone-shaped deformity of the cornea." [HPO:curators] |
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| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
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| HP:0000589 | Coloboma | "A developmental defect characterized by a cleft of some portion of the `eye` (FMA:54448`) or ocular adnexa." [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:0000772 | Abnormality of the ribs | |
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| HP:0000912 | Sprengel anomaly | "A complex deformity characterized by congenital elevation of the scapula." [HPO:curators] |
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| HP:0001141 | Severe visual impairment | |
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| HP:0001249 | Mental retardation | |
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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:0001291 | Abnormality of the cranial nerves | "Abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem." [HPO:curators.] |
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| HP:0001335 | Mirror hand movements (bimanual synkinesia) | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
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| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0002084 | Encephalocele | |
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| HP:0002162 | Low posterior hairline | |
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| HP:0002269 | Neuronal migration disorder | |
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| HP:0002414 | Spina bifida | "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open." [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:0002813 | Abnormality of the extremities | "Any abnormality of the arms or legs." [HPO:curators] |
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| HP:0003043 | Abnormality of the shoulder | "An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula." [HPO:curators] |
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| HP:0003828 | Variable expressivity | |
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| HP:0004374 | Hemiplegia/hemiparesis | "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators] |
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| HP:0004397 | Ectopic anus | "Abnormal displacement or malposition of the anus." [HPO:curators] |
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| HP:0004602 | cervical vertebral fusion, c2-c3 | "Fusion of cervical vertebrae, most common of the vertebrae C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine." [HPO:curators] |
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| HP:0005107 | Abnormality of the sacrum | |
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| HP:0005640 | Abnormal vertebral segmentation and fusion | |
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| HP:0005988 | Torticollis, congenital | |
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| HP:0006817 | Cerebellar vermis aplasia/hypoplasia | "Absence or underdevelopment of the cerebellar vermis." [HPO:curators] |
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| HP:0007291 | Posterior fossa cysts | |
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| HP:0007633 | Bilateral microphthalmos | "A developmental anomaly characterized by abnormal smallness of both eyes." [HPO:curators] |
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| HP:0007703 | Abnormal retinal pigmentation | |
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| HP:0007750 | Foveal hypoplasia | |
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| HP:0007766 | Hypoplastic optic disks | |
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| HP:0008678 | Renal hypoplasia/aplasia | |
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| HP:0009911 | Abnormality of the temporal bone | "Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple." [HPO:curators] |
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| HP:0010469 | Aplasia of the testes | "Absence of the testes." [HPO:curators] |
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| HP:0010984 | Digenic inheritance | "A type of multifactorial inheritance governed by the simultaneous action of two gene loci." [HPO:probinson, ISBN:978-0192628961] |
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| HP:0012795 | Abnormality of the optic disc | "A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination." [HPO:probinson] |
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| HP:0030325 | Cervicomedullary schisis | "Fissure within the spinal cord of the neck." [HPO:probinson] |
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| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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| HP:0100259 | Postaxial polydactyly | "A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe." [HPO:probinson] |
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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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