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病歷用詞 → 對應的 HPO，並附加具這些 HPO 的疾病作為參考。
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待審核對應 HPO 表現型(1)
- Genu varumHP:0002970權重 0.9已確認具此 HPO 的疾病（附加參考）：
- Acrocapitofemoral dysplasia (ORPHA:63446)
- Acrodysostosis (ORPHA:950)
- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome (ORPHA:1110)
- Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
- Dysplasia epiphysealis hemimelica (ORPHA:1822)
- Epiphyseal stippling-osteoclastic hyperplasia syndrome (ORPHA:1952)
- Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome (ORPHA:1969)
- Hypocalcemic vitamin D-dependent rickets (ORPHA:289157)
- Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
- Hypochondroplasia (ORPHA:429)
- Léri-Weill dyschondrosteosis (ORPHA:240)
- Megalocornea-intellectual disability syndrome (ORPHA:2479)
- Mesomelic dysplasia, Nievergelt type (ORPHA:2633)
- Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
- Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
- Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (ORPHA:99646)
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome (ORPHA:2502)
- Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
- Multiple epiphyseal dysplasia type 1 (ORPHA:93308)
- Multiple epiphyseal dysplasia type 5 (ORPHA:93311)
- Neurofibromatosis type 1 (ORPHA:636)
- Ollier disease (ORPHA:296)
- Orofaciodigital syndrome type 4 (ORPHA:2753)
- Pachydermoperiostosis (ORPHA:2796)
- Platyspondylic dysplasia, Torrance type (ORPHA:85166)
- Progressive pseudorheumatoid dysplasia (ORPHA:1159)
- Pseudoachondroplasia (ORPHA:750)
- Rothmund-Thomson syndrome type 1 (ORPHA:221008)
- Rothmund-Thomson syndrome type 2 (ORPHA:221016)
- Satoyoshi syndrome (ORPHA:3130)
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (ORPHA:93360)
- Spondyloepimetaphyseal dysplasia, Missouri type (ORPHA:93356)
- Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
- Spondylometaphyseal dysplasia, 'corner fracture' type (ORPHA:93315)
- Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
- Temtamy syndrome (ORPHA:1777)
- Thrombocytopenia-absent radius syndrome (ORPHA:3320)
- Typical nemaline myopathy (ORPHA:171436)
- X-linked hypophosphatemia (ORPHA:89936)