用詞－HPO 對照字典

病歷用詞（keyword）與 HPO 表現型的多對多對照，含權重（frequency / likelihood）與審核狀態。

病歷用詞	HPO ID	HPO Term	權重	審核狀態
premature loss of permanent teeth	HP:0006480	Premature loss of teeth	0.6	待審核
身高成長變慢	HP:0001510	Growth delay	0.6	待審核
蛋白尿	HP:0000093	Proteinuria	0.85	已確認
角膜混濁	HP:0007957	Corneal opacity	0.85	已確認
不太會流汗	HP:0000966	Hypohidrosis	0.75	已確認
少汗	HP:0000966	Hypohidrosis	0.85	已確認
angiokeratoma	HP:0001014	Angiokeratoma	0.9	已確認
血管角皮瘤	HP:0001014	Angiokeratoma	0.9	已確認
手腳灼熱	HP:0031006	Acroparesthesia	0.75	已確認
肢端感覺異常	HP:0031006	Acroparesthesia	0.85	已確認
肢端疼痛	HP:0031006	Acroparesthesia	0.85	已確認
關節炎	HP:0001369	Arthritis	0.8	已確認
長不高	HP:0001510	Growth delay	0.7	已確認
生長遲緩	HP:0001510	Growth delay	0.85	已確認
牙膿瘍	HP:0030757	Tooth abscess	0.85	已確認
佝僂病	HP:0002748	Rickets	0.95	已確認
血磷過低	HP:0002148	Hypophosphatemia	0.85	已確認
低血磷	HP:0002148	Hypophosphatemia	0.9	已確認
肢體疼痛	HP:0002653	Bone pain	0.55	已確認
肢體疼痛	HP:0009763	Limb pain	0.8	已確認
下肢痠痛	HP:0002653	Bone pain	0.6	已確認
下肢痠痛	HP:0009763	Limb pain	0.85	已確認
頻繁跌倒	HP:0002359	Frequent falls	0.85	已確認
易跌倒	HP:0002359	Frequent falls	0.8	已確認
蹣跚步態	HP:0002515	Waddling gait	0.8	已確認
走路搖擺	HP:0002515	Waddling gait	0.85	已確認
琺瑯質發育不全	HP:0010299	Abnormal dentin morphology	0.6	已確認
琺瑯質發育不全	HP:0006297	Enamel hypoplasia	0.8	已確認
牙齒琺瑯質缺損	HP:0010299	Abnormal dentin morphology	0.6	已確認
牙齒琺瑯質缺損	HP:0006297	Enamel hypoplasia	0.85	已確認
矮小	HP:0003498	Disproportionate short stature	0.55	待審核
矮小	HP:0004322	Short stature	0.6	待審核
身材矮小	HP:0003498	Disproportionate short stature	0.8	已確認
身材矮小	HP:0004322	Short stature	0.85	已確認
膝內翻	HP:0002970	Genu varum	0.9	已確認
型腿	HP:0002970	Genu varum	0.85	已確認
delayed walking	HP:0031936	Delayed ability to walk	0.6	待審核
late walker	HP:0031936	Delayed ability to walk	0.65	待審核
nephrocalcinosis	HP:0000121	Nephrocalcinosis	0.85	已確認
dental abscess	HP:0030757	Tooth abscess	0.7	待審核
high alkaline phosphatase	HP:0003155	Elevated circulating alkaline phosphatase concentration	0.8	待審核
low phosphate	HP:0002148	Hypophosphatemia	0.9	已確認
bone pain	HP:0002653	Bone pain	0.9	已確認
rickets	HP:0002748	Rickets	0.95	已確認
poor growth	HP:0003498	Disproportionate short stature	0.4	待審核
poor growth	HP:0001510	Growth delay	0.8	已確認
short stature	HP:0003498	Disproportionate short stature	0.75	已確認
bow-leggedness	HP:0002970	Genu varum	0.7	待審核
knock knees	HP:0002857	Genu valgum	0.85	已確認
bowed legs	HP:0002979	Bowing of the legs	0.85	已確認
bow legs	HP:0002979	Bowing of the legs	0.9	已確認

用詞－HPO 對照字典

新增對照