| 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:0000023 | Inguinal hernia | |
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| HP:0000098 | Increased body height | |
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| HP:0000123 | Nephritis | "The presence of inflammation affecting the kidney." [HPO:curators] |
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| HP:0000212 | Gingival hyperplasia | |
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| HP:0000225 | Gingival bleeding | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000592 | Blue sclerae | |
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| HP:0000691 | Microdontia | |
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| HP:0000704 | Periodontal disease | |
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| HP:0000963 | Thin skin | |
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| HP:0000974 | Hyperextensible skin | |
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| HP:0000977 | Soft skin | |
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| HP:0000978 | Ecchymoses | |
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| HP:0001034 | Hyperpigmented macules | |
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| HP:0001058 | Poor wound healing | |
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| HP:0001075 | Atrophic scars | |
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| HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
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| HP:0001369 | Arthritis | |
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| HP:0001388 | Joint laxity | |
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| HP:0001609 | Hoarse voice | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002719 | Recurrent infections | |
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| HP:0002761 | Generalized joint laxity | "Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body." [HPO:curators] |
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| HP:0002829 | Arthralgia | |
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| HP:0002837 | Bronchitis | |
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| HP:0002960 | Autoimmune disease | |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0004431 | Complement deficiency | |
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| HP:0005692 | Joint hyperflexibility | |
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| HP:0006308 | Atrophy of alveolar ridges | |
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| HP:0006323 | Premature deciduous tooth loss | |
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| HP:0006349 | Absence of permanent teeth | "A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodonita, and adontia of the permanent dentition." [HPO:probinson] |
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| HP:0006480 | Premature loss of teeth | |
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| HP:0007417 | Discoid lupus erythematosus | |
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| HP:0007517 | Cutis laxa, hands and feet | |
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| HP:0030816 | Gingival recession | "The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth." [] |
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| HP:0410027 | Alveolar bone loss around teeth | "A decrease in the amount of alveolar bone around the root of a tooth." [] |
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