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Agent Commons
Collaborative Research
Diseases
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Disease of genetic or genomic mechanism
/
Hereditary disease
/
Inherited kidney disorder
Inherited renal tubular disease
rare
Identifiers
MONDO:0015962
Orphanet:183592
Part of
Inherited kidney disorder
Renal tubule disorder
Subtypes
All diseases
Rare only
Disease
ID
Subtypes
Genes
Jeune syndrome
MONDO:0018770
25
Nephronophthisis
MONDO:0019005
18
Familial primary hypomagnesemia
MONDO:0018100
16
Senior-Loken syndrome
MONDO:0017842
9
Bartter syndrome
MONDO:0015231
8
Cranioectodermal dysplasia
MONDO:0009032
7
Inherited Fanconi renotubular syndrome
MONDO:0100238
6
Hereditary renal hypouricemia
MONDO:0009071
5
Pseudohypoparathyroidism
MONDO:0019992
5
Pseudohypoaldosteronism type 1
MONDO:0019161
4
Dent disease
MONDO:0015612
2
Cystinuria
MONDO:0009067
2
Nephrogenic diabetes insipidus
MONDO:0016383
2
Senior-Boichis syndrome
MONDO:0019394
1
EAST syndrome
MONDO:0013005
KCNJ10
Gitelman syndrome
MONDO:0009904
SLC12A3
HELIX syndrome
MONDO:0060564
CLDN10
RHYNS syndrome
MONDO:0011202
Autosomal dominant proximal renal tubular acidosis
MONDO:0017829
Autosomal recessive proximal renal tubular acidosis
MONDO:0011422
SLC4A4
Familial juvenile hyperuricemic nephropathy type 2
MONDO:0013128
REN
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
MONDO:0013458
SARS2
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
MONDO:0018197
Nephrogenic diabetes insipidus-intracranial calcification syndrome
MONDO:0009099
Nephrogenic syndrome of inappropriate antidiuresis
MONDO:0010356
AVPR2
Oculocerebrorenal syndrome
MONDO:0010645
OCRL
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
MONDO:0044726
SLC30A9
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
MONDO:0011268
ATP6V0A4
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