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以病歷用詞交叉檢視
病歷用詞 → 對應的 HPO,並附加具這些 HPO 的疾病作為參考。
short stature
待審核對應 HPO 表現型(1)
- Disproportionate short statureHP:0003498權重 0.75已確認具此 HPO 的疾病(附加參考):
- Achondrogenesis type 1B (ORPHA:93298)
- Achondroplasia (ORPHA:15)
- Acromesomelic dysplasia, Maroteaux type (ORPHA:40)
- Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
- Heart defects-limb shortening syndrome (ORPHA:1354)
- Kniest dysplasia (ORPHA:485)
- Kyphomelic dysplasia (ORPHA:1801)
- Mesomelic dwarfism, Reinhardt-Pfeiffer type (ORPHA:2634)
- Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
- Microcephalic osteodysplastic primordial dwarfism type II (ORPHA:2637)
- Multiple epiphyseal dysplasia type 1 (ORPHA:93308)
- Multiple epiphyseal dysplasia type 4 (ORPHA:93307)
- Phocomelia, Schinzel type (ORPHA:2879)
- Short stature-valvular heart disease-characteristic facies syndrome (ORPHA:2868)
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome (ORPHA:508533)
- Spondylocarpotarsal synostosis (ORPHA:3275)
- Spondyloepimetaphyseal dysplasia, Missouri type (ORPHA:93356)
- Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
- Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
- Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
- X-linked hypophosphatemia (ORPHA:89936)