| 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:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000505 | Impaired vision | |
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| HP:0000587 | Abnormality of the optic nerve | "Abnormality of the optic nerve (also known as cranial nerve II), which transmits visual information from the retina to the brain." [HPO:curators] |
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| HP:0000613 | Photophobia | "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators] |
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| HP:0000635 | Blue irides | |
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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:0001022 | Albinism | |
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| HP:0001072 | Thickened skin | |
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| HP:0001104 | Macular hypoplasia | |
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| HP:0002671 | Basal cell carcinoma | |
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| HP:0002861 | Malignant melanoma | "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators] |
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| HP:0005599 | Hair hypopigmentation | |
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| HP:0006739 | Squamous cell carcinoma of the skin | "Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium." [HPO:curators] |
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| HP:0007730 | Reduced iris pigmentation | |
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| HP:0007750 | Foveal hypoplasia | |
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| HP:0007894 | Hypopigmentation of the fundus | |
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