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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。
nephrocalcinosis
待審核對應 HPO 表現型(1)
- NephrocalcinosisHP:0000121權重 0.85已確認具此 HPO 的疾病(附加參考):
- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
- Apparent mineralocorticoid excess (ORPHA:320)
- Arthrogryposis-renal dysfunction-cholestasis syndrome (ORPHA:2697)
- Autosomal dominant hypocalcemia (ORPHA:428)
- Bartter syndrome type 4 (ORPHA:89938)
- Beckwith-Wiedemann syndrome (ORPHA:116)
- Blue diaper syndrome (ORPHA:94086)
- Cystinosis (ORPHA:213)
- Dent disease (ORPHA:1652)
- Distal renal tubular acidosis (ORPHA:18)
- Donohue syndrome (ORPHA:508)
- DOORS syndrome (ORPHA:79500)
- Enamel-renal syndrome (ORPHA:1031)
- Familial hypocalciuric hypercalcemia (ORPHA:405)
- Familial isolated hyperparathyroidism (ORPHA:99879)
- Familial Mediterranean fever (ORPHA:342)
- Familial tumoral calcinosis (ORPHA:53715)
- Fanconi-Bickel syndrome (ORPHA:2088)
- Floating-Harbor syndrome (ORPHA:2044)
- Generalized arterial calcification of infancy (ORPHA:51608)
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib (ORPHA:79259)
- Granulomatous slack skin (ORPHA:33111)
- Hyperparathyroidism-jaw tumor syndrome (ORPHA:99880)
- Hypophosphatasia (ORPHA:436)
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome (ORPHA:369837)
- Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
- Lysinuric protein intolerance (ORPHA:470)
- Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
- Microvillus inclusion disease (ORPHA:2290)
- Oculocerebrorenal syndrome of Lowe (ORPHA:534)
- Oculoskeletodental syndrome (ORPHA:557003)
- Oncogenic osteomalacia (ORPHA:352540)
- Parathyroid carcinoma (ORPHA:143)
- Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome (ORPHA:500533)
- Primary hyperoxaluria (ORPHA:416)
- Primary hyperoxaluria type 1 (ORPHA:93598)
- Primary hyperoxaluria type 2 (ORPHA:93599)
- Primary hyperoxaluria type 3 (ORPHA:93600)
- Primary hypomagnesemia-refractory seizures-intellectual disability syndrome (ORPHA:564178)
- Proximal renal tubular acidosis (ORPHA:47159)
- Pseudoxanthoma elasticum (ORPHA:758)
- Rabson-Mendenhall syndrome (ORPHA:769)
- Sarcoidosis (ORPHA:797)
- Secondary hypoparathyroidism due to impaired parathormon secretion (ORPHA:140286)
- Trisomy 8p syndrome (ORPHA:264450)
- Williams syndrome (ORPHA:904)
- X-linked hypophosphatemia (ORPHA:89936)