| 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:0000962 | Hyperkeratosis | "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators] |
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| HP:0001386 | Joint swelling | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0002098 | Respiratory distress | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002754 | Osteomyelitis | |
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| HP:0002829 | Arthralgia | |
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| HP:0002949 | Fused cervical vertebrae | |
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| HP:0006530 | Interstitial pulmonary disease | |
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| HP:0010280 | Stomatitis | "Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth." [HPO:curators] |
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| HP:0025092 | Epidermal acanthosis | "Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)." [] |
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| HP:0025116 | Fetal distress | "An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile." [] |
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| HP:0040165 | Periostitis | "Inflammation of the periosteum" [] |
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