| 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:0000421 | Epistaxis | |
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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:0000510 | Retinitis pigmentosa | "Hereditary degeneration and atrophy of the retina." [HPO:curators] |
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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:0000662 | Night blindness | |
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| HP:0000973 | Cutis laxa | |
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| HP:0000978 | Ecchymoses | |
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| HP:0001102 | Angioid streaks | |
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| HP:0001582 | Loose, redundant skin | |
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| HP:0001892 | Bleeding diathesis | "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators] |
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| HP:0001928 | Abnormality of coagulation | |
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| HP:0002621 | Atherosclerosis | "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow." [HPO:curators] |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003645 | Prolonged partial thromboplastin time | |
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| HP:0004944 | Cerebral aneurysm | "The presence of a localized dilatation or ballooning of a cerebral artery." [HPO:curators] |
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| HP:0005261 | Joint hemorrhage | |
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| HP:0007522 | Increased number of skin folds | |
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| HP:0007843 | Attenuation of retinal blood vessels | |
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| HP:0007980 | Absent retinal pigment epithelium | |
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| HP:0008169 | Factor VII deficiency | |
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| HP:0008321 | Factor X deficiency | |
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| HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
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| HP:0010655 | Stippling of the epiphyses | "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses (FMA:24012)." [HPO:curators] |
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| HP:0011858 | Reduced factor IX activity | "Decreased activity of `coagulation factor IX` (PR:000007303). Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa." [HPO:probinson] |
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| HP:0012201 | Reduced prothrombin activity | "Decreased activity of coagulation factor II, which is also known as prothrombin." [HPO:probinson] |
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| HP:0200034 | skin papules | "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER] |
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