| 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:0000008 | Abnormality of female internal genitalia | |
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| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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| HP:0000269 | Prominent occiput | |
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| HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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| HP:0000470 | Short neck | |
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| HP:0000582 | Upslanting palpebral fissures | |
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| HP:0000768 | Pectus carinatum | "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators] |
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| HP:0000913 | Posterior rib fusion | |
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| HP:0000921 | Missing ribs | |
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| HP:0001511 | Intrauterine growth retardation | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002937 | Hemivertebrae | |
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| HP:0002948 | Vertebral fusion | "A developmental defect leading to the union of two adjacent vertebrae." [HPO:curators] |
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| HP:0003298 | Spina bifida occulta | "The closed form of spina bifida." [HPO:curators] |
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| HP:0003307 | Hyperlordosis | |
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| HP:0003316 | Butterfly vertebrae | |
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| HP:0003396 | Syringomyelia | |
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| HP:0003419 | Low back pain | |
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| HP:0003422 | Vertebral segmentation defects | |
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| HP:0003510 | Short stature, severe | "A severe degree of short stature." [HPO:curators] |
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| HP:0003521 | Short stature, disproportionate (short trunk) | |
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| HP:0005107 | Abnormality of the sacrum | |
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| HP:0005815 | Supernumerary ribs | |
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| HP:0010306 | Short thorax | "Reduced inferior to superior extent of the thorax." [HPO:curators] |
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| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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