| 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:0000023 | Inguinal hernia | |
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| HP:0000158 | Macroglossia | "Increased length and width of the tongue." [pmid:19125428] |
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| HP:0000238 | Hydrocephalus | |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000268 | Dolichocephaly | |
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| HP:0000280 | Coarse facial features | |
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| HP:0000365 | Hearing loss | |
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| HP:0000501 | Glaucoma | "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] |
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| HP:0000884 | Prominent sternum | |
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| HP:0000885 | Broad ribs | |
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| HP:0000943 | Dysostosis multiplex | |
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| HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
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| HP:0001171 | Ectrodactyly (hands) | |
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| HP:0001385 | Hip dysplasia | |
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| HP:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
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| HP:0001537 | Umbilical hernia | "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators] |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001654 | Abnormality of the heart valves | "An abnormality of a `Cardiac valve` (FMA:7110)." [HPO:probinson] |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002318 | Cervical myelopathy | |
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| HP:0002656 | Epiphyseal dysplasia | |
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| HP:0002788 | Recurrent upper respiratory tract infections | |
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| HP:0002857 | Genu valgum | |
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| HP:0002866 | Hypoplastic iliac wings | |
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| HP:0002869 | Flared iliac wings | |
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| HP:0002938 | Lumbar hyperlordosis | |
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| HP:0003016 | Metaphyseal widening | "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators] |
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| HP:0003025 | Irregular metaphyses | |
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| HP:0003274 | Hypoplastic acetabulae | |
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| HP:0003300 | Ovoid vertebral bodies | |
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| HP:0003311 | Hypoplastic odontoid process | |
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| HP:0003521 | Short stature, disproportionate (short trunk) | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0007759 | Corneal opacities, not impairing visual acuity | |
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| HP:0008301 | Dermatan sulfate excretion in urine | |
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| HP:0008432 | Anterior wedging of l1 and l2 | |
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| HP:0011941 | Anterior wedging of L2 | "An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front)." [HPO:probinson] |
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| HP:0012185 | Constrictive median neuropathy | "Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand." [HPO:probinson] |
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