ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
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(OMIM:613404)
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Alagille syndrome due to 20p12 microdeletion
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(Orphanet:261600)
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Alagille syndrome due to a JAG1 point mutation
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(Orphanet:261619)
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Alagille syndrome due to a NOTCH2 point mutation
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(Orphanet:261629)
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Arthrogryposis - renal dysfunction - cholestasis
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(Orphanet:2697)
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Autosomal dominant distal renal tubular acidosis
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(Orphanet:93608)
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Autosomal recessive distal renal tubular acidosis with deafness
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(Orphanet:93611)
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Carnitine palmitoyl transferase 1A deficiency
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(Orphanet:156)
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Combined oxidative phosphorylation defect type 11
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(Orphanet:324535)
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Dent disease type 1
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(Orphanet:93622)
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Dent disease type 2
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(Orphanet:93623)
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Distal renal tubular acidosis
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(Orphanet:18)
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Fabry disease
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(Orphanet:324)
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Familial hypomagnesemia - hypercalciuria - nephrocalcinosis
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(Orphanet:31043)
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HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA
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(OMIM:239199)
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Kearns-Sayre syndrome
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(Orphanet:480)
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Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
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(Orphanet:369897)
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Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
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(Orphanet:1194)
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Proximal renal tubular acidosis
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(Orphanet:47159)
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Vitamin B12-unresponsive methylmalonic acidemia type mut0
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(Orphanet:289916)
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[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
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(OMIM:208085)
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