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HPO → 對應的病歷用詞,並附加具此 HPO 的疾病作為參考。
Kidney stone
HP:0000787
對應病歷用詞(0)
尚無對應用詞。
具此 HPO 的疾病(附加參考)(60)
- 2p21 microdeletion syndromeORPHA:163693 · Very frequent (99-80%)
- CystinuriaORPHA:214 · Very frequent (99-80%)
- Dent diseaseORPHA:1652 · Very frequent (99-80%)
- Hypotonia-cystinuria syndromeORPHA:163690 · Very frequent (99-80%)
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndromeORPHA:1816 · Very frequent (99-80%)
- Leukonychia totalisORPHA:2387 · Very frequent (99-80%)
- Medullary sponge kidneyORPHA:1309 · Very frequent (99-80%)
- Primary hyperoxaluria type 1ORPHA:93598 · Very frequent (99-80%)
- Primary hyperoxaluria type 2ORPHA:93599 · Very frequent (99-80%)
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvementORPHA:2196 · Very frequent (99-80%)
- Adenine phosphoribosyltransferase deficiencyORPHA:976 · Frequent (79-30%)
- AlkaptonuriaORPHA:56 · Frequent (79-30%)
- Congenital primary megaureterORPHA:617 · Frequent (79-30%)
- Cushing syndrome due to bilateral macronodular adrenocortical diseaseORPHA:189427 · Frequent (79-30%)
- CystinosisORPHA:213 · Frequent (79-30%)
- Distal renal tubular acidosisORPHA:18 · Frequent (79-30%)
- FLOTCH syndromeORPHA:2045 · Frequent (79-30%)
- Hereditary hypophosphatemic rickets with hypercalciuriaORPHA:157215 · Frequent (79-30%)
- Hyperparathyroidism-jaw tumor syndromeORPHA:99880 · Frequent (79-30%)
- Hypocalcemic vitamin D-resistant ricketsORPHA:93160 · Frequent (79-30%)
- Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeORPHA:521445 · Frequent (79-30%)
- Parathyroid carcinomaORPHA:143 · Frequent (79-30%)
- 5-oxoprolinase deficiencyORPHA:33572 · Occasional (29-5%)
- Beckwith-Wiedemann syndromeORPHA:116 · Occasional (29-5%)
- Congenital megacalycosisORPHA:93109 · Occasional (29-5%)
- CystathioninuriaORPHA:212 · Occasional (29-5%)
- Dicarboxylic aminoaciduriaORPHA:2195 · Occasional (29-5%)
- Fibrodysplasia ossificans progressivaORPHA:337 · Occasional (29-5%)
- GAPO syndromeORPHA:2067 · Occasional (29-5%)
- Glucose-galactose malabsorptionORPHA:35710 · Occasional (29-5%)
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IbORPHA:79259 · Occasional (29-5%)
- HypophosphatasiaORPHA:436 · Occasional (29-5%)
- HypoplasminogenemiaORPHA:722 · Occasional (29-5%)
- Metaphyseal chondrodysplasia, Rosenberg typeORPHA:1837 · Occasional (29-5%)
- Multiple endocrine neoplasia type 1ORPHA:652 · Occasional (29-5%)
- Multiple endocrine neoplasia type 2ORPHA:653 · Occasional (29-5%)
- Musculocontractural Ehlers-Danlos syndromeORPHA:2953 · Occasional (29-5%)
- Oculocerebrorenal syndrome of LoweORPHA:534 · Occasional (29-5%)
- Oncogenic osteomalaciaORPHA:352540 · Occasional (29-5%)
- Osteogenesis imperfectaORPHA:666 · Occasional (29-5%)
- Osteopetrosis with renal tubular acidosisORPHA:2785 · Occasional (29-5%)
- Primary hyperaldosteronism-seizures-neurological abnormalities syndromeORPHA:369929 · Occasional (29-5%)
- Progressive external ophthalmoplegia-myopathy-emaciation syndromeORPHA:352447 · Occasional (29-5%)
- Proximal renal tubular acidosisORPHA:47159 · Occasional (29-5%)
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletionORPHA:353281 · Occasional (29-5%)
- Rubinstein-Taybi syndrome due to CREBBP mutationsORPHA:353277 · Occasional (29-5%)
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyORPHA:353284 · Occasional (29-5%)
- SarcoidosisORPHA:797 · Occasional (29-5%)
- Schwartz-Jampel syndromeORPHA:800 · Occasional (29-5%)
- SebocystomatosisORPHA:841 · Occasional (29-5%)
- Stiff skin syndromeORPHA:2833 · Occasional (29-5%)
- Williams syndromeORPHA:904 · Occasional (29-5%)
- Wilson diseaseORPHA:905 · Occasional (29-5%)
- X-linked hypophosphatemiaORPHA:89936 · Occasional (29-5%)
- Cystic fibrosisORPHA:586 · Very rare (<4-1%)
- Familial hypocalciuric hypercalcemiaORPHA:405 · Very rare (<4-1%)
- Legius syndromeORPHA:137605 · Very rare (<4-1%)
- Marcus-Gunn syndromeORPHA:91412 · Very rare (<4-1%)
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndromeORPHA:438213 · Very rare (<4-1%)
- Schinzel-Giedion syndromeORPHA:798 · Very rare (<4-1%)