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以疾病交叉檢視
疾病 → HPO → 病歷用詞。用來檢查特定疾病的 HPO 是否都已有對應用詞。
X-linked hypophosphatemia
ORPHA:89936 · Disease · 共 52 項 HPO，其中 38 項尚無對應用詞
- Abnormal lower-limb metaphysis morphologyHP:0006490 · Very frequent (99-80%)尚無對應用詞
- Elevated circulating alkaline phosphatase concentrationHP:0003155 · Very frequent (99-80%)
- high alkaline phosphatase權重 0.8待審核
- HypocalciuriaHP:0003127 · Very frequent (99-80%)尚無對應用詞
- HypophosphatemiaHP:0002148 · Very frequent (99-80%)
- low phosphate權重 0.9已確認
- 低血磷權重 0.9已確認
- 血磷過低權重 0.85已確認
- Renal phosphate wastingHP:0000117 · Very frequent (99-80%)尚無對應用詞
- RicketsHP:0002748 · Very frequent (99-80%)
- Abnormal dentin morphologyHP:0010299 · Frequent (79-30%)
- Abnormal epiphysis morphologyHP:0005930 · Frequent (79-30%)尚無對應用詞
- ArthralgiaHP:0002829 · Frequent (79-30%)尚無對應用詞
- Bone painHP:0002653 · Frequent (79-30%)
- Bowing of the legsHP:0002979 · Frequent (79-30%)
- bow legs權重 0.9已確認
- bowed legs權重 0.85已確認
- Bowing of the long bonesHP:0006487 · Frequent (79-30%)尚無對應用詞
- Delayed ability to standHP:0025335 · Frequent (79-30%)尚無對應用詞
- Delayed ability to walkHP:0031936 · Frequent (79-30%)
- late walker權重 0.65待審核
- delayed walking權重 0.6待審核
- Disproportionate short statureHP:0003498 · Frequent (79-30%)
- 身材矮小權重 0.8已確認
- short stature權重 0.75已確認
- 矮小權重 0.55待審核
- poor growth權重 0.4待審核
- Flattening of the talar domeHP:0008144 · Frequent (79-30%)尚無對應用詞
- Genu valgumHP:0002857 · Frequent (79-30%)
- knock knees權重 0.85已確認
- Genu varumHP:0002970 · Frequent (79-30%)
- 膝內翻權重 0.9已確認
- 型腿權重 0.85已確認
- bow-leggedness權重 0.7待審核
- Growth delayHP:0001510 · Frequent (79-30%)
- 生長遲緩權重 0.85已確認
- poor growth權重 0.8已確認
- 長不高權重 0.7已確認
- 身高成長變慢權重 0.6待審核
- NephrocalcinosisHP:0000121 · Frequent (79-30%)
- nephrocalcinosis權重 0.85已確認
- OdontodysplasiaHP:0000694 · Frequent (79-30%)尚無對應用詞
- Rachitic rosaryHP:0000897 · Frequent (79-30%)尚無對應用詞
- Reduced bone mineral densityHP:0004349 · Frequent (79-30%)尚無對應用詞
- Shortening of the talar neckHP:0008117 · Frequent (79-30%)尚無對應用詞
- Tooth abscessHP:0030757 · Frequent (79-30%)
- 牙膿瘍權重 0.85已確認
- dental abscess權重 0.7待審核
- Upper limb metaphyseal wideningHP:0003856 · Frequent (79-30%)尚無對應用詞
- ArthritisHP:0001369 · Occasional (29-5%)
- 關節炎權重 0.8已確認
- Chiari type I malformationHP:0007099 · Occasional (29-5%)尚無對應用詞
- CraniosynostosisHP:0001363 · Occasional (29-5%)尚無對應用詞
- DysphagiaHP:0002015 · Occasional (29-5%)尚無對應用詞
- Elevated circulating fibroblast growth factor 23 concentrationHP:6000407 · Occasional (29-5%)尚無對應用詞
- Enlargement of the costochondral junctionHP:0000920 · Occasional (29-5%)尚無對應用詞
- EnthesitisHP:0100686 · Occasional (29-5%)尚無對應用詞
- FatigueHP:0012378 · Occasional (29-5%)尚無對應用詞
- Flared iliac wingHP:0002869 · Occasional (29-5%)尚無對應用詞
- Frontal bossingHP:0002007 · Occasional (29-5%)尚無對應用詞
- Kidney stoneHP:0000787 · Occasional (29-5%)尚無對應用詞
- Limitation of joint mobilityHP:0001376 · Occasional (29-5%)尚無對應用詞
- Multiple rib fracturesHP:0006640 · Occasional (29-5%)尚無對應用詞
- Muscle weaknessHP:0001324 · Occasional (29-5%)尚無對應用詞
- Sacroiliac joint synovitisHP:0012449 · Occasional (29-5%)尚無對應用詞
- Secondary hyperparathyroidismHP:0000867 · Occasional (29-5%)尚無對應用詞
- Sleep disturbanceHP:0002360 · Occasional (29-5%)尚無對應用詞
- Spinal canal stenosisHP:0003416 · Occasional (29-5%)尚無對應用詞
- Spinal cord compressionHP:0002176 · Occasional (29-5%)尚無對應用詞
- Thick growth platesHP:0025369 · Occasional (29-5%)尚無對應用詞
- TinnitusHP:0000360 · Occasional (29-5%)尚無對應用詞
- Trapezoidal distal femoral condylesHP:0006432 · Occasional (29-5%)尚無對應用詞
- Vertebral hyperostosisHP:0008442 · Occasional (29-5%)尚無對應用詞
- CellulitisHP:0100658 · Very rare (<4-1%)尚無對應用詞
- Generalized osteosclerosisHP:0005789 · Very rare (<4-1%)尚無對應用詞
- Sensorineural hearing impairmentHP:0000407 · Very rare (<4-1%)尚無對應用詞