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Gene: Xdh MGI:98973

Gene Summary

Name:

xanthine dehydrogenase

Synonyms:

XO, xanthine oxidase, Xor, Xox1, Xox-1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
male infertility	Xdh^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal lung morphology	Xdh^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal skin morphology	Xdh^em1(IMPC)Mbp	HET	Early adult	0.00
persistence of hyaloid vascular system	Xdh^em1(IMPC)Mbp	HET	Early adult	9.87×10^-07
cataract	Xdh^em1(IMPC)Mbp	HET	Early adult	3.36×10^-06
abnormal vitreous body morphology	Xdh^em1(IMPC)Mbp	HET	Early adult	3.00×10^-06

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

36 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Human diseases caused by Xdh mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Xdh (1 diseases)
Human diseases predicted to be associated with Xdh (1079 diseases)

The table below shows human diseases associated to Xdh by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Xanthinuria, Type I		Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Hyperxanthin...	OMIM:278300

The table below shows human diseases predicted to be associated to Xdh by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Oocyte/Zygote/Embryo Maturation Arrest 16	Infertility	OMIM:617234
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Nondisjunction	Decreased fertility	OMIM:158250
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Xanthinuria, Type Ii	Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le...	OMIM:603592
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Pancreatic adenocarcino...	OMIM:145001
Spermatogenic Failure 32	Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Male infertility	OMIM:619831
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria,...	OMIM:239199
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619528
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Hyperparathyroidism 4	Nephrolithiasis, Hypercalcemia, Parathyroid carcinoma, Primary hyperparathyroidism	OMIM:617343
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Azoospermia, Male infertility	OMIM:619145
Spermatogenic Failure 63	Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:617960
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ...	OMIM:614817
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Renal insufficiency, Proteinuria, Glomerulopathy, Hypercalcemia	ORPHA:2668
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia	OMIM:211000
Nephrotic Syndrome, Type 6	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c...	OMIM:614196
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility	OMIM:618110
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hypopho...	OMIM:616963
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Papular Xanthoma	Histiocytosis	ORPHA:158008
Hereditary Xanthinuria	Hypouricemia, Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urina...	ORPHA:3467
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia	OMIM:609886
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease...	ORPHA:228302
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosph...	OMIM:616026
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Xanthinuria, Type I	Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Hyperxanthin...	OMIM:278300
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal insufficiency, Hyperphosp...	ORPHA:99879
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Failure to thrive, Hypercalcemia, Medullary nephrocalcinosis, Nephrolithiasis, ...	OMIM:143880
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Stage 3 chronic kidney disease, Postnatal growth retardation, Elevated circu...	OMIM:620366
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis	ORPHA:1646
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E...	OMIM:174000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre...	OMIM:617056
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary adenoma, Increased circulating cortisol level, Pituitary prola...	ORPHA:97289
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Pancreatiti...	OMIM:145980
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormality of the parathyroid gland, Abnormal circulating calcium concentration, Secondary hyper...	ORPHA:140286
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Blue Diaper Syndrome	Nephrocalcinosis, Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentrati...	ORPHA:94086
Parathyroid Carcinoma	Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma	OMIM:608266
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Rhizomelia, Elevated circulating creatinine concentration, Stage 5 chronic kidn...	OMIM:614376
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Dec...	OMIM:146200
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Granulomatous Slack Skin	Acute kidney injury, Hypercalcemia, Nephrocalcinosis	ORPHA:33111
Hypophosphatemic Rickets And Hyperparathyroidism	Renal phosphate wasting, Hyperparathyroidism, Elevated circulating parathyroid hormone level, Hyp...	OMIM:612089
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Failure...	OMIM:227810
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, A...	ORPHA:411634
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Decreased response to growth hormone stimulation test, Postnatal growth retardation,...	OMIM:614732
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hyperammonemia, Hyperleucinemia, Decreased body weight, Hypervalinemia, Increa...	OMIM:620085
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619949
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi...	OMIM:615862
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Hyperuricemia, Renal ...	OMIM:603860
Hyperparathyroidism 1	Hypercalcemia, Primary hyperparathyroidism	OMIM:145000
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo...	OMIM:301101
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,...	OMIM:618913
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Decreased HDL cholesterol concentration,...	ORPHA:85450
Molybdenum Cofactor Deficiency, Type A	Hypouricemia, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine ...	OMIM:252150
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular...	OMIM:145981
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease...	ORPHA:157
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium...	ORPHA:567544
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Hyperuricemia,...	OMIM:162000
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri...	ORPHA:1652
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Failure to thrive in in...	OMIM:617595
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Nephronophthisis 3	Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein...	OMIM:604387
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Elevated circulating thyroid-stimulating hormone concentration, Elevated circu...	OMIM:617872
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas...	ORPHA:228308
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co...	ORPHA:3337
Molybdenum Cofactor Deficiency, Type B	Hypouricemia, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine ...	OMIM:252160
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Severe short stature, Elevated circulating creatinine concentration, Decreased glomerular filtrat...	OMIM:242530
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility	OMIM:261550
Nephronophthisis 1	Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Stage 5 chronic kidney ...	OMIM:256100
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excre...	OMIM:211900
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis, Cyanosis, Failure to thrive	OMIM:263000
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Pneumonia, Decreased urinary urate, Failure to thrive, Recurrent urinary tract infe...	OMIM:613179
Molybdenum Cofactor Deficiency, Type C	Hypouricemia, Increased urinary taurine, Hypocystinemia, Neonatal death, Hypertaurinemia	OMIM:615501
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc...	OMIM:619468
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Bardet-Biedl Syndrome 10	Renal cyst, Obesity, Renal insufficiency	OMIM:615987
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Obesity	OMIM:616629
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro...	OMIM:600740
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H...	OMIM:179800
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Hypocalcemia, Nephrolithiasis, Hypophosphatemia, Short stature	ORPHA:93160
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Failure to thrive, Stage 5 chronic kidney disease, Hyperglycinemia, Hyper...	OMIM:251000
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Spermatogenic Failure 38	Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella...	OMIM:618433
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ...	OMIM:601678
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Failure to thrive, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia,...	OMIM:613845
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Postnatal growth retardation, Hypocalcemia	OMIM:615361
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Proteinuria, Delayed puberty, Increased blood urea nitrogen, Macroscopic hematuria, Anhi...	ORPHA:251004
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia	ORPHA:510
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Postnatal growth retardation, Intrauterine growth retardation, Elevated circulat...	OMIM:616733
Helix Syndrome	Hypermagnesemia, Hyperparathyroidism, Hypocalciuria, Xerostomia, Renal insufficiency, Nephrolithi...	OMIM:617671
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid...	ORPHA:2239
Alport Syndrome	Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular...	ORPHA:63
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Isochromosomy Yp	Azoospermia, Male infertility	ORPHA:98797
Small Cell Carcinoma Of The Bladder	Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections	ORPHA:284400
2P21 Microdeletion Syndrome	Failure to thrive, Hypogonadism, Hypocalcemia, Nephrolithiasis, Cystinuria, Growth delay	ORPHA:163693
Bardet-Biedl Syndrome 18	Obesity, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615995
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Low urinary cyclic AMP respons...	OMIM:603233
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu...	ORPHA:231736
Glycogen Storage Disease Iv	Failure to thrive, Abnormal circulating creatine kinase concentration, Tubulointerstitial fibrosi...	OMIM:232500
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Optic Atrophy 3, Autosomal Dominant	Cataract, Optic disc pallor, Optic atrophy	OMIM:165300
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid...	OMIM:615008
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul...	ORPHA:93126
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Lysinuric Protein Intolerance	Increased LDL cholesterol concentration, Hyperglycinemia, Glomerulonephritis, Tubulointerstitial ...	ORPHA:470
Familial Isolated Hypoparathyroidism	Nephropathy, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathy...	ORPHA:2238
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri...	ORPHA:411536
Histiocytosis, Familial Lipochrome	Histiocytosis	OMIM:235900
Bardet-Biedl Syndrome 14	Obesity, Renal insufficiency	OMIM:615991
Glucose-Galactose Malabsorption	Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalcemia, H...	ORPHA:35710
Bardet-Biedl Syndrome 16	Renal agenesis, Recurrent otitis media, Obesity, Stage 5 chronic kidney disease, Renal insufficie...	OMIM:615993
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Diffuse Neonatal Hemangiomatosis	Hypercalcemia, Renal insufficiency, Renal hypoplasia/aplasia	ORPHA:2123
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Hyperphosphatur...	OMIM:239200
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:600995
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil...	OMIM:602522
Nephronophthisis 4	Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tub...	OMIM:606966
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Calciphylaxis	Stage 5 chronic kidney disease, Hyperphosphatemia, Secondary hyperparathyroidism	ORPHA:280062
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Cyano...	ORPHA:488627
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated...	ORPHA:329918
Glycogen Storage Disease V	Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232600
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis, Hyperalaninemia, Failure to thrive	OMIM:614582
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Non-Functioning Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Weight loss, P...	ORPHA:94080
Nail-Patella-Like Renal Disease	Renal insufficiency, Proteinuria, Glomerulopathy, Short stature, Microscopic hematuria	ORPHA:2613
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie...	ORPHA:79233
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Hyperuricemia, Proteinuri...	ORPHA:261222
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Renal angiomyolipoma, Hypothyroidi...	OMIM:610755
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ...	ORPHA:94059
Rhabdoid Tumor	Hematuria, Weight loss, Hypercalcemia, Renal neoplasm	ORPHA:69077
Adamantinoma	Hypercalcemia	ORPHA:55881
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Short stature, Tubulointerstitial nephritis	OMIM:616901
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:614131
Parathyroid Carcinoma	Nephrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Renal ha...	ORPHA:143
Hyperuricemia, Hprt-Related	Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis	OMIM:300323
Eosinophilic Granulomatosis With Polyangiitis	Renal insufficiency, Skin rash, Hematuria, Proteinuria, Glomerulopathy, Weight loss, Increased in...	ORPHA:183
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne...	OMIM:612925
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility	OMIM:301060
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612926
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Hyp...	OMIM:264700
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate	ORPHA:760
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia...	OMIM:300539
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency, Hypoparathyroidism, Hypocalcemia, Hypothyroidism, Hypohidrosis,...	ORPHA:1563
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612924
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Growth delay, Congenital nephrotic syndrome, Renal insufficiency, Hyperlipidemia...	OMIM:256300
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus...	ORPHA:139402
Pendred Syndrome	Nephropathy, Hyperparathyroidism, Goiter, Thyroid carcinoma, Hypothyroidism	ORPHA:705
Oculoskeletodental Syndrome	Short stature, Nephrocalcinosis, Hypercalcemia, Hypocalcemia	ORPHA:557003
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypercalcemia, Nephrolithiasis...	OMIM:617994
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Gout, Hyperuricemia, Hyperuricosuria, Arthritis, Uric a...	ORPHA:411543
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Metaphyseal Chondrodysplasia, Jansen Type	Severe short stature, Nephrocalcinosis, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hypo...	OMIM:156400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Xanthelasma, Tubulointerstitial fibrosis, Ent...	ORPHA:79259
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Cystinuria	Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis	ORPHA:214
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamartoma, Pancreatic ade...	ORPHA:99880
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Hypercalcemia, Eleva...	ORPHA:284426
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Rheumatoid arthritis, Elevated circulating creatinine concentration, Unilate...	ORPHA:49041
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr...	OMIM:615605
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W...	ORPHA:276621
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ...	ORPHA:37042
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina...	ORPHA:189427
Oculoskeletodental Syndrome	Renal agenesis, Cryptorchidism, Hypocalcemia, Hypothyroidism, Mucopolysacchariduria, Hypercalciur...	OMIM:618440
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Acute Adrenal Insufficiency	Failure to thrive, Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insu...	ORPHA:95409
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog...	OMIM:614227
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Umbilical hernia, ...	OMIM:300555
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Preeclampsia	Chronic kidney disease, Type I diabetes mellitus, Acute kidney injury, Elevated circulating creat...	ORPHA:275555
Cystinuria	Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu...	OMIM:220100
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:615573
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa...	ORPHA:567548
Hypophosphatasia, Infantile	Nephrocalcinosis, Disproportionate short-limb short stature, Failure to thrive, Phosphoethanolami...	OMIM:241500
Zollinger-Ellison Syndrome	Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi...	ORPHA:913
Thyroid Hemiagenesis	Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ...	ORPHA:95719
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Short stature, Hyperlipidemia, Hyperuricemia	ORPHA:364
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Addison Disease	Adrenal calcification, Weight loss, Hypoparathyroidism, Renal salt wasting, Hyperkalemia, Thymoma...	ORPHA:85138
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Lead Poisoning	Chronic kidney disease, Increased LDL cholesterol concentration, Skin rash, Renal tubular dysfunc...	ORPHA:330015
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria	OMIM:620152
Wilson Disease	Aminoaciduria, Hypouricemia, Hypoalbuminemia, Chondrocalcinosis, Glycosuria, Hyperbilirubinemia, ...	OMIM:277900
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Inguinal hernia, Camptodactyly, Short stature, Abnormality of the kidney, Tubulointerstitial neph...	ORPHA:459061
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5...	OMIM:617609
Lecithin:Cholesterol Acyltransferase Deficiency	Proteinuria, Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Fibronectin Glomerulopathy	Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom...	ORPHA:84090
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph...	OMIM:613779
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Pituitary adenoma, Failure to thrive, Graves disease, Adrenocorticotrop...	ORPHA:199299
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Elevated urinary dopamine level, Increased circu...	OMIM:171400
Drug-Induced Lupus Erythematosus	Malar rash, Elevated circulating creatine kinase concentration, Hematuria, Increased blood urea n...	ORPHA:231111
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Hyperlipid...	OMIM:232200
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:616950
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia	OMIM:608898
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalce...	ORPHA:94090
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Claw hand deformity, Elevated...	OMIM:614455
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Galloway-Mowat Syndrome 8	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hematuria, P...	OMIM:618349
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn...	OMIM:603278
Trichomegaly	Cataract	OMIM:190330
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Neonatal death...	OMIM:263200
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency, Abnormal circulating acylcarnitine concentration, Elevated circulating creat...	OMIM:620235
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Decreased HDL cholesterol concentration, Chronic active hepatitis...	OMIM:203800
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo...	OMIM:203330
Tubulointerstitial Nephritis And Uveitis Syndrome	Scleritis, Weight loss, Elevated circulating C-reactive protein concentration, Tubulointerstitial...	ORPHA:91500
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hypomature enamel, Hematuria, Macroscopic hematuria, A...	OMIM:248250
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Intrauterine growth retardation, Decrease...	OMIM:617744
Complement Factor H Deficiency	Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel...	OMIM:609814
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elev...	ORPHA:340
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, H...	ORPHA:36913
Glycogen Storage Disease Vii	Cholelithiasis, Increased total bilirubin, Exercise-induced myoglobinuria, Hyperuricemia, Elevate...	OMIM:232800
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W...	ORPHA:29072
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia	OMIM:108420
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency	ORPHA:1909
Aniridia 2	Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Pos...	ORPHA:289157
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Glycogen Storage Disease Ixb	Short stature, Growth delay, Hyperuricemia	OMIM:261750
Hypophosphatasia	Failure to thrive in infancy, Hypercalcemia, Short stature	ORPHA:436
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine level, Pheochromocytoma, Proteinuria, Hyperhidrosis, Hypercalcemia	OMIM:171420
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Nephronophthisis	Renal insufficiency	ORPHA:655
Lessel-Kubisch Syndrome	Short stature, Renal hypoplasia, Renal insufficiency	OMIM:618681
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Autosomal Recessive Kenny-Caffey Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Hypocalcemic tetany, Hypocalcemia,...	ORPHA:93324
Glycogen Storage Disease Ixa1	Growth delay, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni...	OMIM:613095
Renal Tubular Acidosis, Proximal	Short stature, Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubu...	OMIM:179830
Myopia 28, Autosomal Recessive	Cataract, Retinal detachment	OMIM:619781
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Parathyroid hypoplasia, Renal insufficiency, Hypocalcemia, Vesicourete...	ORPHA:2237
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Male infertility	OMIM:277180
Morgagni-Stewart-Morel Syndrome	Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, A...	ORPHA:77296
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Hyperglycinemia, Renal insufficiency, Hyperamylasemia, Elevated circulating creati...	OMIM:619386
Coach Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi...	OMIM:619113
Coats Disease	Cataract, Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst...	ORPHA:33001
Hepatic Veno-Occlusive Disease	Increased body weight, Renal insufficiency, Increased total bilirubin	ORPHA:890
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, P...	OMIM:606407
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen, Nocturia, Elevated circulating dihydroxyphenylacet...	OMIM:223360
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s...	OMIM:612462
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia, Failure to thrive	ORPHA:28
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Sanjad-Sakati Syndrome	Hyperphosphatemia, Postnatal growth retardation, Hypocalcemia, Cryptorchidism, Hypoparathyroidism...	ORPHA:2323
Lethal Ataxia With Deafness And Optic Atrophy	Hypouricemia	ORPHA:1187
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Renal Cysts And Diabetes Syndrome	Hypospadias, Unilateral renal agenesis, Renal hypoplasia, Maturity-onset diabetes of the young, P...	OMIM:137920
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge...	OMIM:223900
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis...	OMIM:154230
Lesch-Nyhan Phenotype With Normal Hgprt	Hyperuricemia	OMIM:308950
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil...	OMIM:232220
Glycogen Storage Disease Xi	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Multiple Myeloma	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Weight loss, Nep...	ORPHA:29073
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Decreased response to growth hormone stimulation test, Postnatal growth retard...	OMIM:241410
Vitamin D-Dependent Rickets, Type 2A	Elevated circulating parathyroid hormone level, Failure to thrive, Hypophosphatemia, Hypocalcemic...	OMIM:277440
Nephronophthisis 7	Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis	OMIM:611498
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia	ORPHA:371
Isochromosomy Yq	Azoospermia, Male infertility	ORPHA:98798
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Proteinuria, Ab...	OMIM:123550
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creatinine	ORPHA:54057
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:616893
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre...	OMIM:235400
Gitelman Syndrome	Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Chondrocalcinosis, Failure to thri...	ORPHA:358
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca...	OMIM:618883
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina	OMIM:613801
Malaria	Elevated circulating C-reactive protein concentration, Acute kidney injury, Hyperbilirubinemia	ORPHA:673
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lens subluxation, Cataract, Retinal detachment, Lattice retinal degeneration	OMIM:614292
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho...	ORPHA:405
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Arima Syndrome	Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, ...	OMIM:243910
Lesch-Nyhan Syndrome	Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Short stature, Testicular atrophy	OMIM:300322
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypospadias, Multicystic kidney dysplasia, Acute kidney injury, Renal agenesis, Abnormality of ex...	ORPHA:93111
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema...	OMIM:613237
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane...	OMIM:104200
Nephrosialidosis	Nephropathy, Nephrotic syndrome, Renal insufficiency	OMIM:256150
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Retinal detachment, Corneal opacit...	OMIM:610202
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p...	ORPHA:653
Mccune-Albright Syndrome	Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,...	OMIM:174800
Retinitis Pigmentosa 84	Cataract, Bone spicule pigmentation of the retina, Macular coloboma, Macular atrophy	OMIM:618220
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:270150
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero...	OMIM:256370
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli...	ORPHA:439232
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, IgA depos...	OMIM:616730
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Cataract, Optic atrophy, Retinal pigment epithelial atr...	OMIM:143200
Nephrotic Syndrome, Type 8	Chronic kidney disease, Hypoalbuminemia, Thin glomerular basement membrane, Stage 5 chronic kidne...	OMIM:615244
Ppoma	Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In...	ORPHA:97278
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:610725
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Chronic kidney disease, Failure to thrive, Intrauterine growth retardation, Renal tubular acidosi...	ORPHA:324525
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Thrombotic Thrombocytopenic Purpura, Hereditary	Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ...	OMIM:274150
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Wei...	ORPHA:1332
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil...	OMIM:232240
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Acute kidney injury	ORPHA:2134
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Vipoma	Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ...	ORPHA:97282
Progressive Familial Intrahepatic Cholestasis	Short stature, Failure to thrive, Hypocalcemia	ORPHA:172
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne...	ORPHA:1473
Pseudohypoparathyroidism Type 1B	Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm...	ORPHA:94089
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel...	OMIM:131100
Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia	Primary hyperparathyroidism	OMIM:600166
Oculocerebrorenal Syndrome Of Lowe	Cryptorchidism, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Aminoaciduria, Rena...	ORPHA:534
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Short stature	ORPHA:3156
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy...	ORPHA:656
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Failure to thrive, Intrauterine growth retardation, Renal insufficiency, Abnorm...	ORPHA:320
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Growth delay, Hypocalcemia, Elevated circulating parathyroid hormone level	OMIM:619073
Stickler Syndrome Type 2	Cataract, Retinal detachment, Corneal opacity	ORPHA:90654
Pheochromocytoma	Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery stenosis, Proteinuria, Hype...	OMIM:171300
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Retinitis Pigmentosa 9	Cataract, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:180104
Lipodystrophy, Familial Partial, Type 3	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceri...	OMIM:604367
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility	OMIM:264110
Grfoma	Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In...	ORPHA:97261
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Familial Visceral Myopathy	Hyperparathyroidism, Vesicoureteral reflux, Hydroureter, Megacystis	ORPHA:2604
Retinitis Pigmentosa 59	Micropenis, Intrauterine growth retardation, Renal insufficiency, Failure to thrive	OMIM:613861
Burkitt Lymphoma	Abnormality of the ovary, Hyperuricemia	ORPHA:543
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency	OMIM:249660
Combined Deficiency Of Factor V And Factor Viii	Hematuria, Hyperlipidemia, Hyperuricemia	ORPHA:35909
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto...	OMIM:246450
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hydroxyprolinuria, Failure to thrive, Hyperuricemia, Hydroxyprolinemia, Hyperc...	OMIM:239000
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal detachment, Snowflake vitreoretinal degeneration	OMIM:193230
Cocaine Intoxication	Acute kidney injury, Elevated circulating creatine kinase concentration, Hematuria, Proteinuria, ...	ORPHA:90068
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Oligozoospermia, Male infertility	ORPHA:48
Infantile Myofibromatosis	Hypercalcemia, Neoplasm of the pancreas, Abnormality of the kidney	ORPHA:2591
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Gaisböck Syndrome	Nephrocalcinosis, Hypernatriuria, Obesity, Gout, Cholecystitis, Hyperuricemia, Hypercholesterolem...	ORPHA:90041
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility	OMIM:620103
Somatostatinoma	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:97283
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:161950
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:611773
Morm Syndrome	Cataract, Retinal atrophy	ORPHA:75858
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Intrauterine growth retard...	OMIM:301006
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, Nephrocalcinosis, Abnormality of the urinary system, Obesity, Renal cyst, Hyp...	ORPHA:369837
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Short stature, Diabetes mellitus	OMIM:612526
Muckle-Wells Syndrome	Renal amyloidosis, Recurrent aphthous stomatitis, Renal insufficiency, Elevated circulating C-rea...	OMIM:191900
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu...	OMIM:610600
Multicentric Reticulohistiocytosis	Histiocytosis	ORPHA:139436
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal hypoplasia, Renal insufficiency, Obesity	OMIM:615996
Juvenile Paget Disease	Short stature, Hyperuricemia	ORPHA:2801
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Acrorenal Syndrome	Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia	ORPHA:971
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Renal insufficiency, Gout, Hyperuricemia, Hyperuricosuria, Short stature, Uric acid...	OMIM:300661
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:613731
Cockayne Syndrome Type 1	Foot joint contracture, Failure to thrive, Postnatal growth retardation, Renal insufficiency, Pro...	ORPHA:90321
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Hypophosphatemia, Gr...	ORPHA:469
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio...	OMIM:143400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Pancreatitis, Growth delay	ORPHA:289916
Osteopetrosis, Autosomal Dominant 3	Hyperparathyroidism	OMIM:618107
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas...	OMIM:620138
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Spinal Cord Injury	Hypercalcemia, Urinary retention, Urinary bladder sphincter dysfunction	ORPHA:90058
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Intrauterine growth retardation, Hypocalcemia, Proportionate short stature, Birth...	OMIM:244460
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:160010
Reni Syndrome	Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:617575
Microphthalmia/Coloboma 12	Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the...	OMIM:120200
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Beta 2-microglobulinuria, Glyco...	ORPHA:97362
Cranioectodermal Dysplasia 1	Chronic kidney disease, Rhizomelia, Renal magnesium wasting, Stage 1 chronic kidney disease, Stag...	OMIM:218330
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Intermediate Uveitis	Psoriasiform dermatitis, Optic neuritis, Tubulointerstitial nephritis, Macular scar, Anterior uve...	ORPHA:279914
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu...	OMIM:614377
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Jeune Syndrome	Nephropathy, Nephronophthisis, Renal insufficiency, Short stature	ORPHA:474
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Enlarged kidney, Ovarian cyst	OMIM:618188
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Congenital diaphrag...	OMIM:166300
X-Linked Immunoneurologic Disorder	Cataract, Abnormal pleura morphology, Recurrent respiratory infections	ORPHA:2571
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, Intrauterine g...	OMIM:608104
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra...	ORPHA:91495
Laurence-Moon Syndrome	Obesity, Renal insufficiency, Displacement of the urethral meatus, Short stature, Hypoplasia of p...	ORPHA:2377
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Distal renal tubular acidosis, Hypocalcemia, Renal tubular acidosis, Elevated ...	ORPHA:2785
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency	ORPHA:254857
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Prolinuria, Hydroxyprolinuria, Hyperglycinemia...	ORPHA:79101
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Tubulointerstitial ...	OMIM:607944
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Failure to thrive, Renal insufficiency, Membranoproliferative glomerulonephr...	OMIM:619644
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti...	OMIM:617610
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Hydroxyprolinuria	OMIM:602080
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia	ORPHA:526
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Pancreatitis, Renal insufficiency, Hyperammonemia, Failure to thrive	ORPHA:79312
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Hyp...	OMIM:203400
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency	ORPHA:3327
Coach Syndrome 2	Elevated circulating creatinine concentration, Hyperechogenic kidneys	OMIM:619111
Microphthalmia, Isolated 5	Cataract, Optic disc drusen, Bone spicule pigmentation of the retina, Retinal pigment epithelial ...	OMIM:611040
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Lymphedema-Hypoparathyroidism Syndrome	Short stature, Nephropathy, Renal insufficiency, Hypoparathyroidism	OMIM:247410
Acquired Ichthyosis	Recurrent skin infections, Renal insufficiency	ORPHA:454
Anti-Glomerular Basement Membrane Disease	Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis	ORPHA:375
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Failure to thrive, Neonatal death, Hypertyrosinemia, Lacticaciduria, Tubulointerst...	OMIM:124000
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Disproportionate short-limb short stature, Hypocalcemia, Elevated circulating ...	OMIM:618618
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Hyperinsulinemia,...	ORPHA:230
Glucagonoma	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:97280
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Alg1-Cdg	Hypoalbuminemia, Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney	ORPHA:79327
Diffuse Alveolar Hemorrhage	Hematuria, Elevated circulating creatinine concentration, Weight loss, Proteinuria	ORPHA:90060
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch...	OMIM:617731
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome...	OMIM:618594
Relapsing Fever	Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu...	ORPHA:91547
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren...	ORPHA:99845
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616892
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Persis...	OMIM:221900
Late-Onset Familial Hypoaldosteronism	Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Decreased ci...	ORPHA:556037
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Beta-Thalassemia Intermedia	Cholelithiasis, Proximal tubulopathy, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Elevat...	ORPHA:231222
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Cystinosis	Nephropathy, Aminoaciduria, Failure to thrive, Renal insufficiency, Renal tubular dysfunction, Pr...	ORPHA:213
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Elevated...	ORPHA:368
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Nephrocalcinosis, Adrenal insufficie...	OMIM:240300
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena...	OMIM:146255
Leber Congenital Amaurosis 8	Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Macular coloboma	OMIM:613835
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Rhizomelia, Short stature	OMIM:617661
Alpha-Heavy Chain Disease	Growth delay, Hypocalcemia	ORPHA:100025
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Neuroleptic Malignant Syndrome	Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated cir...	ORPHA:94093
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col...	OMIM:610256
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Renal i...	ORPHA:223
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Cone-Rod Dystrophy 16	Cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:614500
Spermatogenic Failure 14	Azoospermia, Male infertility, Round spermatid arrest	OMIM:615842
Monosomy 13Q34	Obesity, Hypercalcemia, Growth delay, Fetal pyelectasis	ORPHA:96168
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Hypercalcemia, Failure to thrive	ORPHA:476126
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Increased total bilirubin, Elevated circulating creatinine concentration, Decrea...	OMIM:608836
Autoimmune Polyendocrinopathy Type 2	Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary...	ORPHA:3143
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil...	OMIM:613090
Primary Sjögren Syndrome	Arteritis, Parotitis, Chronic active hepatitis, Renal insufficiency, Lymphocytic interstitial pne...	ORPHA:289390
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma...	ORPHA:85445
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Decreased ci...	ORPHA:556030
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Gapo Syndrome	Growth delay, Tubulointerstitial fibrosis, Umbilical hernia	OMIM:230740
Fibrous Dysplasia Of Bone	Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c...	ORPHA:249
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis	OMIM:134610
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cyanosis, Cylindruri...	OMIM:233450
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Beta-Ketothiolase Deficiency	Weight loss, Ketonuria, Hyperammonemia, Hyperuricemia	ORPHA:134
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Recurrent urinary tract infections,...	ORPHA:2970
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Hypophosphatemia, Growth delay, Hypocalcemia	ORPHA:89937
Pparg-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperuricemia, Polycystic ovaries, Pancreatitis, Maternal di...	ORPHA:79083
Syndromic Recessive X-Linked Ichthyosis	Short stature, Unilateral renal agenesis, Renal insufficiency	ORPHA:281090
Spermatogenic Failure 28	Non-obstructive azoospermia, Male infertility	OMIM:618086
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Recurrent urin...	OMIM:248190
Fructose-1,6-Bisphosphatase Deficiency	Hyperuricemia, Neonatal hyperbilirubinemia, Hyperalaninemia, Increased urinary glycerol	ORPHA:348
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Cachexia, Hypocalcemia, Renal hypoplasia/aplasia	ORPHA:1438
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Disproportionate short stature, Hyperechogenic kidneys, Elevated circulating creatinine concentra...	OMIM:301110
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicouret...	OMIM:191800
Stickler Syndrome, Type V	Cataract, Retinal detachment	OMIM:614284
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypogonadism, Hypocalcemic tet...	OMIM:103580
Pearson Syndrome	Glycosuria, Hypomagnesemia, Decreased response to growth hormone stimulation test, Postnatal grow...	ORPHA:699
Double Outlet Right Ventricle	Aplasia/Hypoplasia of the thymus, Failure to thrive, Hypoparathyroidism, Hypocalcemia, Short stature	ORPHA:3426
Kenny-Caffey Syndrome, Type 2	Severe short stature, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia, Hypoparathyroi...	OMIM:127000
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia	ORPHA:171844
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Leber Congenital Amaurosis 16	Cataract, Optic disc pallor	OMIM:614186
Alagille Syndrome 2	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria	OMIM:610205
Hyperoxaluria, Primary, Type Ii	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis	OMIM:260000
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome...	OMIM:617730
Sarcoidosis	Nephrocalcinosis, Parotitis, Renal insufficiency, Nephrolithiasis, Scarring, Hypercalciuria, Weig...	ORPHA:797
Hypomagnesemia 2, Renal	Hypocalciuria, Chondrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, H...	OMIM:154020
Kearns-Sayre Syndrome	Primary adrenal insufficiency, Hypoparathyroidism, Renal tubular acidosis, Renal Fanconi syndrome...	OMIM:530000
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal...	OMIM:212550
Nephronophthisis 9	Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Renal c...	OMIM:613824
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system	OMIM:257910
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:301050
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Vitamin B12-Unresponsive Methylmalonic Acidemia	Pancreatitis, Renal insufficiency, Hyperammonemia	ORPHA:27
Dihydropyrimidinase Deficiency	Growth delay, Failure to thrive, Elevated circulating thymine concentration, Elevated urinary thy...	OMIM:222748
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure...	ORPHA:89938
Fructose Intolerance, Hereditary	Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Failure to thrive, Hyperbilirubinemia,...	OMIM:229600
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Failure to thrive, Renal insufficiency, Hyperalaninemia, Increased serum pyruvate, Growth delay, ...	OMIM:619147
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Frasier Syndrome	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa...	ORPHA:347
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Megabladder, Congenital	Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys	OMIM:618719
Congenital Disorder Of Glycosylation, Type Iit	Urinary incontinence, Hypotriglyceridemia, Decreased serum creatinine, Pineal cyst, Decreased HDL...	OMIM:618885
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:603552
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ...	OMIM:618183
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra...	OMIM:241150
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia, Hypokalem...	OMIM:617913
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom...	ORPHA:93598
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Ketonuria, Hyperammonemia, Hyperuricemia, Weight loss, Acute pancreatitis	ORPHA:20
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections	OMIM:618161
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Gout, ...	OMIM:618061
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Thickened glomerular basement membrane, Failure to thrive, Recurrent urinary tra...	OMIM:619487
Isolated Sedoheptulokinase Deficiency	Hepatitis, Renal insufficiency, Inguinal hernia, Severe postnatal growth retardation, Abnormal re...	ORPHA:440713
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Iridocyclitis, Keratoconjunctivitis sicca, T...	ORPHA:227990
Cataract 47	Cataract, Microcornea	OMIM:612018
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria...	ORPHA:447
Myh9-Related Disease	Nephropathy, Nephritis, Renal insufficiency, Proteinuria	ORPHA:182050
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy...	ORPHA:567546
Generalized Pustular Psoriasis	Hypoalbuminemia, Obesity, Renal insufficiency, Hypocalcemia, Hyponatremia, Elevated circulating C...	ORPHA:247353
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Myoglobinuria, Hyperkalemia, Growth delay, Elevated creatine kinase after ex...	ORPHA:57
Bacterial Toxic-Shock Syndrome	Cellulitis, Glomerulonephritis, Recurrent skin infections, Elevated circulating creatinine concen...	ORPHA:36234
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Neonatal death, Renal cyst, Stillb...	OMIM:614922
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Hashimoto thyroiditis, Iridocyclitis, Kerato...	ORPHA:227982
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Elevated circulating creatinine concentration, Proteinuria, Compensated hypothyroidi...	ORPHA:247691
Brain-Lung-Thyroid Syndrome	Hypospadias, Failure to thrive, Elevated circulating thyroid-stimulating hormone concentration, M...	ORPHA:209905
Gracile Bone Dysplasia	Short stature, Micropenis, Failure to thrive, Hypocalcemia	OMIM:602361
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Fa...	OMIM:308940
Leber Congenital Amaurosis	Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Spermatogenic Failure 13	Azoospermia, Male infertility	OMIM:615841
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Car T Cell Therapy-Associated Cytokine Release Syndrome	Decreased urine output, Elevated circulating creatinine concentration, Acute kidney injury, Hyper...	ORPHA:542323
Peroxisome Biogenesis Disorder 11B	Cataract, Respiratory tract infection	OMIM:614885
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Neonatal death, Hydronephrosis, Renal cyst, Short stature	OMIM:613390
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Hyperbilirubinemia, Renal insufficiency	ORPHA:713
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephropathy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal insufficiency, Proteinuri...	OMIM:254900
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ...	OMIM:610984
Xfe Progeroid Syndrome	Hypoalbuminemia, Severe short stature, Failure to thrive, Corneal scarring, Absence of subcutaneo...	OMIM:610965
Wolcott-Rallison Syndrome	Chronic kidney disease, Hypoalbuminemia, Hyperbilirubinemia, Renal insufficiency, Hyperammonemia,...	ORPHA:1667
Spermatogenic Failure, X-Linked, 4	Azoospermia, Male infertility	OMIM:301077
Dominant Beta-Thalassemia	Failure to thrive in infancy, Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed pub...	ORPHA:231226
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent urinary tract infections, Recurrent otitis media, Stage 5 chronic kidney disease, Recur...	OMIM:615559
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Aminoaci...	OMIM:219800
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal hypoplasia, Umbilical hernia, Renal insufficiency, Short stature, Hypoplasia of penis, Rena...	ORPHA:85321
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Hypoparathyroidism, Hypocalcemia	ORPHA:746
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism, Hypocalc...	ORPHA:73224
Legionnaires Disease	Cellulitis, Hepatitis, Renal insufficiency, Infectious encephalitis, Hematuria, Proteinuria, Hypo...	ORPHA:549
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co...	ORPHA:3453
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria	ORPHA:859
Rhyns Syndrome	Chronic kidney disease, Nephronophthisis, Renal insufficiency, Short stature	OMIM:602152
Maternal Uniparental Disomy Of Chromosome 2	Elevated amniotic fluid alpha-fetoprotein, Contractures of the large joints, Postnatal growth ret...	ORPHA:96179
Pseudohypoparathyroidism Type 1C	Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm...	ORPHA:79444
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Postnatal growth retardation, Intrauterine growth retardation, Hypocalcemic te...	ORPHA:93325
Isolated Aniridia	Cataract, Aniridia, Peters anomaly	ORPHA:250923
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Pancreatic lymphangiectasis, Postnatal growth retardation, Hypocalcemia, Cryptorchidism, Hydronep...	ORPHA:1655
Systemic Capillary Leak Syndrome	Oliguria, Renal insufficiency, Abnormal renal tubule morphology, Pancreatitis, Weight loss, Myoca...	ORPHA:188
Cockayne Syndrome	Severe short stature, Unilateral renal agenesis, Renal hypoplasia, Congenital contracture, Contra...	ORPHA:191
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Hypoproteinemia	ORPHA:398063
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Renal insufficiency	OMIM:300653
Babesiosis	Renal insufficiency	ORPHA:108
Norrie Disease	Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,...	OMIM:310600
Frasier Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:136680
Distal Limb Deficiencies-Micrognathia Syndrome	Proteinuria, Renal hypoplasia, Renal insufficiency, Short stature	ORPHA:1307
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Failure to thrive, ...	ORPHA:416
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Hashimoto thyroiditis, Hypo...	ORPHA:64744
Galloway-Mowat Syndrome 10	Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ...	OMIM:619609
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Increased t...	ORPHA:84081
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Melas	Nephropathy, Focal segmental glomerulosclerosis, Type I diabetes mellitus, Proximal tubulopathy, ...	ORPHA:550
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Growth delay,...	ORPHA:1830
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency...	ORPHA:93552
Hypocomplementemic Urticarial Vasculitis	Renal insufficiency, Episcleritis, Skin rash, Hematuria, Proteinuria, Glomerulopathy, Arthritis, ...	ORPHA:36412
Hypoparathyroidism, X-Linked	Congenital hypoparathyroidism	OMIM:307700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Obesity, Hypocalcemia, Hyperammonemia, Elevated circ...	ORPHA:26793
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Failure to thrive, Cryptorchidism, Hypocalcemia, Micropenis, Hypospadias, Small for g...	OMIM:607143
Tyrosinemia, Type I	Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, ...	OMIM:276700
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas...	OMIM:609057
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Feta...	ORPHA:50810
Severe Acute Respiratory Syndrome	Acute infectious pneumonia, Acute kidney injury, Hypoxemia	ORPHA:140896
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta...	OMIM:277400
Aniridia 3	Cataract, Aniridia	OMIM:617142
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Obesity, Renal insufficiency, Nephroblastoma, Hypospadias	OMIM:194072
Cryoglobulinemic Vasculitis	Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Keratoconjunctivitis sicca, Arthriti...	ORPHA:91138
Colchicine Poisoning	Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp...	ORPHA:31824
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Xerostomia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia	OMIM:175500
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Renal hypoplasia, Obesity, Vesicoureteral reflux, Cryptorchidism, Pseudohypoparathyroidism, Abnor...	ORPHA:464288
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Pancreatic lymphangiectasis, Hypocalcemia, Cryptorchidism, Thyroid lymphangiectasia, Hydronephros...	OMIM:235255
Bardet-Biedl Syndrome 9	Obesity, Renal insufficiency, Truncal obesity	OMIM:615986
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Beta-Thalassemia Major	Failure to thrive in infancy, Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed pub...	ORPHA:231214
Familial Peripheral Male-Limited Precocious Puberty	Oligozoospermia, Male infertility	ORPHA:3000
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:613101
Familial Hypoaldosteronism	Failure to thrive, Adrenal insufficiency, Hyponatremia, Decreased circulating aldosterone level, ...	ORPHA:427
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Intrauterine growth retardation, Stage 5 chronic kidney disea...	OMIM:242900
Simple Cryoglobulinemia	Nephritis, Viral hepatitis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Weight ...	ORPHA:91139
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Joint contracture of the hand, Intrauterine ...	OMIM:251300
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst, Growth delay	ORPHA:445038
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Obesity, Nephronophthisis, Short stature	OMIM:615630
Amyloidosis, Finnish Type	Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom...	OMIM:105120
Al Amyloidosis	Hypoalbuminemia, Renal insufficiency, Proteinuria, Increased circulating NT-proBNP concentration,...	ORPHA:85443
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr...	ORPHA:90038
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Weight loss, Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Thyroiditis	ORPHA:79078
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Liddle Syndrome 1	Hypokalemia, Renal insufficiency, Decreased circulating renin level	OMIM:177200
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypermagnesiuria	ORPHA:428
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Growth delay, Failure to thrive, Hypocalcemia	OMIM:600081
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome	ORPHA:330001
Meningococcal Meningitis	Elevated circulating C-reactive protein concentration, Renal insufficiency, Skin rash, Infectious...	ORPHA:33475
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary...	OMIM:619743
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Renal salt wasting, Increased circulating renin level	OMIM:619406
Microscopic Polyangiitis	Uveitis, Oliguria, Renal insufficiency, Episcleritis, Skin rash, Hematuria, Increased inflammator...	ORPHA:727
Cholera	Acute kidney injury, Hypocalcemia, Hypokalemia, Hyponatremia, Decreased urine output, Abnormal bl...	ORPHA:173
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu...	OMIM:607364
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Growth delay, Renal agenesis, Hyperechogenic kidneys...	OMIM:617641
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-a...	OMIM:177735
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating ferritin concentration, Hematuria, Proteinuria, Elevated circula...	OMIM:614034
Williams Syndrome	Type II diabetes mellitus, Cryptorchidism, Polycystic ovaries, Precocious puberty, Cholelithiasis...	ORPHA:904
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Retinal coloboma	OMIM:601794
Pseudo-Torch Syndrome 3	Proteinuria, Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration	OMIM:618886
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency	OMIM:173900
Nephronophthisis 19	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid...	OMIM:616217
X-Linked Agammaglobulinemia	Short stature, Weight loss, Failure to thrive, Hypocalcemia	ORPHA:47
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst	OMIM:617478
Avian Influenza	Hypoalbuminemia, Pneumonia, Acute kidney injury, Myelitis, Hepatitis, Elevated circulating creati...	ORPHA:454836
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Growt...	OMIM:618882
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Congenital Disorder Of Glycosylation, Type Iig	Rhizomelia, Failure to thrive in infancy, Postnatal growth retardation, Intrauterine growth retar...	OMIM:611209
Ethylene Glycol Poisoning	Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Cyanosis, Hematuria, Gastritis, Dec...	ORPHA:31826
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l...	OMIM:259900
Porphyria Variegata	Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent...	ORPHA:79473
Lamellar Ichthyosis	Short stature, Chronic otitis media, Renal insufficiency, Erythroderma	ORPHA:313
Severe Oculo-Renal-Cerebellar Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency, Short stature	ORPHA:2715
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity, Rhizomelia, Stage 1 chronic kidney disease	OMIM:618821
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Renal insufficiency, Reduced subcutaneous adipose tissue, Abnormal renal ...	OMIM:137940
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Retinal coloboma	ORPHA:363741
Caudal Regression Syndrome	Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d...	ORPHA:3027
Mandibuloacral Dysplasia With Type B Lipodystrophy	Generalized lipodystrophy, Stage 5 chronic kidney disease, Hyperlipidemia, Decreased adipose tiss...	OMIM:608612
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility	OMIM:617091
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids,...	OMIM:309000
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Failure to thrive, Intrauterine growth retardation, Stage 5 chronic kidney disea...	OMIM:617729
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Amelogenesis imperfe...	OMIM:204690
Ventriculomegaly With Cystic Kidney Disease	Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid...	OMIM:219730
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Weight loss, Growth delay, Hypoproteinemia	ORPHA:90362
Lymphoproliferative Syndrome, X-Linked, 2	Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis	OMIM:300635
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Osteomyelitis, Renal insufficiency, Elevated circula...	ORPHA:90291
Infantile Nephropathic Cystinosis	Aminoaciduria, Failure to thrive, Glycosuria, Low-molecular-weight proteinuria, Abnormality of th...	ORPHA:411629
Williams-Beuren Syndrome	Failure to thrive in infancy, Obesity, Early onset of sexual maturation, Renal insufficiency, Abn...	OMIM:194050
Albers-Schönberg Osteopetrosis	Short stature, Hypocalcemia	ORPHA:53
Pseudohypoparathyroidism Type 1A	Pituitary resistance to thyroid hormone, Elevated circulating calcitonin concentration, Hyperphos...	ORPHA:79443
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Timothy Syndrome	Hypothyroidism, Hypocalcemia	OMIM:601005
Velocardiofacial Syndrome	Short stature, Hypoparathyroidism, Hypocalcemia, Cryptorchidism	OMIM:192430
East Syndrome	Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Hyperaldoste...	ORPHA:199343
Porphyria Cutanea Tarda	Increased circulating iron concentration, Cutaneous abscess, Increased circulating ferritin conce...	ORPHA:101330
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocytosis	OMIM:209950
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Short stature, C...	OMIM:208500
Scrub Typhus	Renal insufficiency, Skin rash, Infectious encephalitis, Myocarditis, Anterior uveitis	ORPHA:83317
Oncogenic Osteomalacia	Renal phosphate wasting, Hypophosphatemia, Hypocalcemia, Hyperphosphaturia	ORPHA:352540
Myelofibrosis	Splenomegaly, Myeloproliferative disorder, Hemophagocytosis, Extramedullary hematopoiesis	OMIM:254450
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Thrombocytopenia, Anemia	ORPHA:507
Kleefstra Syndrome Due To 9Q34 Microdeletion	Failure to thrive, Obesity, Vesicoureteral reflux, Renal insufficiency, Inguinal hernia, Femoral ...	ORPHA:96147
Steinert Myotonic Dystrophy	Male hypogonadism, Cholelithiasis, Decreased response to growth hormone stimulation test, Decreas...	ORPHA:273
Variant Abeta2M Amyloidosis	Chronic kidney disease, Renal amyloidosis	ORPHA:314652
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv...	ORPHA:90791
Castleman Disease	Ureteral obstruction, Renal insufficiency, Hematuria, Weight loss, Elevated circulating C-reactiv...	ORPHA:160
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Growth delay, Stage 5 chronic kidney ...	OMIM:613550
Boutonneuse Fever	Maculopapular exanthema, Renal insufficiency, Skin rash	ORPHA:83313
Systemic Lupus Erythematosus	Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis	OMIM:152700
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Failure to thrive, Postnatal growth retardation, Hypocalcemia, Weight l...	OMIM:212750
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Pseudo-Torch Syndrome 1	Renal insufficiency, Failure to thrive, Umbilical hernia	OMIM:251290
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration	ORPHA:79126
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Bronchiolitis, Interstitial pneumonitis, Recurrent sinopulmonary infections, Corneal er...	OMIM:614878
Exudative Vitreoretinopathy 6	Cataract, Nuclear cataract, Tractional retinal detachment, Retinal detachment, Cortical cataract,...	OMIM:616468
Kleefstra Syndrome	Obesity, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Hernia, Short st...	ORPHA:261494
Autoinflammatory-Pancytopenia Syndrome	Hepatosplenomegaly, Pancytopenia, Granuloma, Hemophagocytosis	OMIM:619858
22Q11.2 Deletion Syndrome	Cholelithiasis, Renal hypoplasia, Failure to thrive, Intrauterine growth retardation, Obesity, Ve...	ORPHA:567
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Hypocalciuria, Abnormal dental enamel morphology, Hypophosphaturia...	ORPHA:1031
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Fabry Disease	Lipiduria, Renal insufficiency, Proteinuria, Delayed puberty, Urinary mulberry cells	OMIM:301500
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Recurrent pneumonia, Proteinuria,...	OMIM:617303
Mitochondrial Complex I Deficiency, Nuclear Type 29	Stage 5 chronic kidney disease, Hyperalaninemia, Failure to thrive, Lacticaciduria	OMIM:618250
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Failu...	ORPHA:79282
Acute Intermittent Porphyria	Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hyponatrem...	ORPHA:79276
Dubowitz Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Hypoparathyroidism, Cryptorchidism...	ORPHA:235
Granulomatosis With Polyangiitis	Ureteral stenosis, Renal insufficiency, Otitis media, Skin rash, Hematuria, Proteinuria, Hydronep...	ORPHA:900
Craniofacioskeletal Syndrome	Intrauterine growth retardation, Absent gallbladder, Hypocalcemia, Cryptorchidism, Hydronephrosis...	OMIM:300712
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Familial Dysautonomia	Growth delay, Renal insufficiency, Hyponatremia, Glomerulopathy, Abnormality of the kidney, Acroc...	ORPHA:1764
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Elbow flexion contracture, Contracture of the ...	ORPHA:2614
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Renal hypoplasia/aplasia, Short s...	ORPHA:261265
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hypokalemia, P...	OMIM:612780
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Bartter Syndrome, Type 2, Antenatal	Nephrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Renal juxtaglomerular cell ...	OMIM:241200
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Renal amyloidosis, Abnormal circulating selenium concentration, IgA depos...	ORPHA:79408
Fabry Disease	Nephropathy, Abnormal circulating lipid concentration, Renal insufficiency, Hyperlipidemia, Hemat...	ORPHA:324
Snakebite Envenomation	Hyponatremia, Acute kidney injury	ORPHA:449285
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Cryptorchidism, Hydronephrosis, Micropenis,...	ORPHA:163979
Nail-Patella Syndrome	Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Short stature, Nephrotic syndrome	OMIM:161200
Plasminogen Deficiency, Type I	Nephritis, Periodontitis, Nephrolithiasis, Decreased level of plasminogen, Conjunctivitis	OMIM:217090
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Failure to thrive, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Low plasma citrulline, Elev...	OMIM:311250
Shigellosis	Pneumonia, Acute kidney injury, Uveitis, Conjunctivitis, Ulcerative colitis, Urethritis, Failure ...	ORPHA:810
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Bardet-Biedl Syndrome 17	Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis	OMIM:615994
Senior-Loken Syndrome 8	Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn...	OMIM:616307
Galloway-Mowat Syndrome 9	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, ...	OMIM:619603
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Diffuse Cutaneous Systemic Sclerosis	Flexion contracture, Oliguria, Renal insufficiency, Arthritis	ORPHA:220393
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ...	OMIM:301078
Martin-Probst Syndrome	Umbilical hernia, Renal insufficiency, Proteinuria, Chordee, Micropenis, Short stature	OMIM:300519
Feingold Syndrome Type 1	Nephritis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Abnormal...	ORPHA:391641
Sifrim-Hitz-Weiss Syndrome	Micropenis, Vesicoureteral reflux, Renal insufficiency, Short stature	OMIM:617159
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Joubert Syndrome 2	Renal cyst, Nephronophthisis, Renal insufficiency, Failure to thrive	OMIM:608091
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Hypercapnia, Elevated creati...	ORPHA:423
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ...	ORPHA:261529
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Posterolateral d...	OMIM:194080
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Thyrocerebroretinal Syndrome	Nephritis	OMIM:274240
Hand-Foot-Genital Syndrome	Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C...	OMIM:140000
Pierson Syndrome	Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body...	OMIM:609049
Joubert Syndrome 9	Stage 5 chronic kidney disease	OMIM:612285
Lujo Hemorrhagic Fever	Oliguria, Renal insufficiency, Skin rash, Maculopapular exanthema, Myocarditis, Elevated circulat...	ORPHA:319213
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Keratitis, Failure to thrive, Aspiration pneumonia, Stage 5 ...	ORPHA:1018
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Sepsis In Premature Infants	Oliguria, Reversible renal failure, Cyanosis, Decreased body weight, Enterocolitis, Elevated circ...	ORPHA:90051
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy...	OMIM:614643
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem...	OMIM:620430
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Keloids, Unilateral renal atrophy, Pyelonephritis, Renal dysplasia	OMIM:314300
Erdheim-Chester Disease	Osteomyelitis, Xanthelasma, Renal insufficiency, Skin rash, Hydronephrosis, Weight loss, Dysuria	ORPHA:35687
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Hypocalcemia	OMIM:259700
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Stage 5 chronic kidney disease	OMIM:613819
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Failure to thrive, Hyperechogenic kidneys, Rhizomelic arm shortening, Renal cortical cysts, Renal...	ORPHA:397715
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin...	OMIM:612109
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased glomerular filtration rate, Renal ...	OMIM:614748
Refsum Disease	Renal insufficiency	ORPHA:773
Distal Deletion 10Q	Acute kidney injury, Functional abnormality of the bladder, Failure to thrive, Horseshoe kidney, ...	ORPHA:96148
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Failure to thrive, Increa...	OMIM:222700
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni...	OMIM:216360
Eisenmenger Syndrome	Bacterial endocarditis, Abnormal circulating B-type natriuretic peptide concentration, Renal insu...	ORPHA:97214
Pseudopseudohypoparathyroidism	Short stature, Obesity, Pseudohypoparathyroidism	OMIM:612463
Mercury Poisoning	Hypokalemia, Acute kidney injury, Interstitial pneumonitis	ORPHA:330021
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency	ORPHA:2318
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Short stature, Ecto...	ORPHA:140952
Giant Cell Arteritis	Renal insufficiency, Hematuria, Weight loss, Arthritis, Pericarditis	ORPHA:397
Charge Syndrome	Renal hypoplasia, Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Renal agenesis, Decre...	OMIM:214800
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Inguinal hernia	ORPHA:1454
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy	ORPHA:86818
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency	ORPHA:220497
Immunoglobulin A Vasculitis	Renal insufficiency, Episcleritis, Skin rash, Infectious encephalitis, Hematuria, Proteinuria, Gl...	ORPHA:761
Renal-Hepatic-Pancreatic Dysplasia 1	Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Ureteral atresia, Neonatal ...	OMIM:208540
Fuchs Heterochromic Iridocyclitis	Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, Optic disc pallor, Pa...	ORPHA:263479
Tafro Syndrome	Elevated circulating C-reactive protein concentration, Renal insufficiency	ORPHA:457077
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin s...	OMIM:214700
Sotos Syndrome	Hypospadias, Renal agenesis, Renal insufficiency, Cryptorchidism, Vesicoureteral reflux, Ureterop...	ORPHA:821
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly	OMIM:615122
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Renal insufficiency, Ep...	ORPHA:728
Spondyloenchondrodysplasia	Chronic kidney disease, Pneumonia, Hepatitis, Skin rash, Hematuria, Proteinuria, Disproportionate...	ORPHA:1855
Familial Osteodysplasia, Anderson Type	Hyperuricemia	ORPHA:2769
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Liver Disease, Severe Congenital	Hyperbilirubinemia, Hypospadias, Hypoproteinemia, Aminoaciduria, Hypocalcemia, Elevated hepatic i...	OMIM:619991
Sickle Cell Disease	Hematuria, Renal insufficiency, Hypoxemia	OMIM:603903
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Hypoparathyroidism, Hashimoto thyroiditis,...	OMIM:618223
Cranioectodermal Dysplasia 4	Short stature, Recurrent pneumonia, Stage 5 chronic kidney disease	OMIM:614378
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Abnormal macrophage morphology	ORPHA:353
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Horseshoe kidney, Abnormality of th...	ORPHA:322
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Ciliary Dyskinesia, Primary, 18	Immotile sperm, Male infertility	OMIM:614874
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ...	ORPHA:99826
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Growth delay, Recurrent pneumonia, Recurrent urinary tract infecti...	ORPHA:731
Yellow Fever	Acute kidney injury, Pancreatic hyperplasia, Anuria, Elevated circulating creatinine concentratio...	ORPHA:99829
Pyomyositis	Myositis, Weight loss, Renal insufficiency, Recurrent cutaneous abscess formation	ORPHA:764
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Nephritis, Pneumonia, Hypotriglyceridemia, Glycosuria, Abnormal circulating lipi...	ORPHA:2298
Hennekam Syndrome	Horseshoe kidney, Ectopic kidney, Mild postnatal growth retardation, Hypocalcemia	ORPHA:2136
Infection-Related Hemolytic Uremic Syndrome	Acute kidney injury, Oliguria, Anuria, Hypocalcemia, Hyponatremia, Decreased urine output, Pancre...	ORPHA:544482
Niemann-Pick Disease, Type A	Microcytic anemia, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis	OMIM:257200
Stevens-Johnson Syndrome	Abnormality of the urethra, Renal insufficiency, Weight loss, Pancreatitis, Conjunctivitis, Dysuria	ORPHA:36426
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Pustule, Eosinophilic dermal i...	ORPHA:293173
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Failure to thrive, Recurrent urinary tract infections, Slender build, Intrauteri...	OMIM:613658
Hardikar Syndrome	Hypoplasia of the bladder, Hydroureter, Failure to thrive, Recurrent urinary tract infections, Um...	OMIM:301068
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin...	ORPHA:466650
Acrokeratoelastoidosis Of Costa	Granulomatosis	ORPHA:38
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Congenital Enterovirus Infection	Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia	ORPHA:292
Toxic Epidermal Necrolysis	Abnormality of the urethra, Renal insufficiency, Weight loss, Pancreatitis, Conjunctivitis, Dysuria	ORPHA:537
Digeorge Syndrome	Unilateral renal agenesis, Cholelithiasis, Parathyroid hypoplasia, Obesity, Renal insufficiency, ...	OMIM:188400
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Short stature, Renal insufficiency	OMIM:226980
Hermansky-Pudlak Syndrome 1	Colitis, Inflammation of the large intestine, Renal insufficiency	OMIM:203300
Cockayne Syndrome B	Severe short stature, Atypical scarring of skin, Failure to thrive, Postnatal growth retardation,...	OMIM:133540
Familial Mediterranean Fever	Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Crohn's disease, Orchitis, Periton...	OMIM:249100
Hamamy Syndrome	Hypoparathyroidism, Cryptorchidism	OMIM:611174
Ciliary Dyskinesia, Primary, 14	Immotile sperm, Male infertility, Reduced sperm motility	OMIM:613807
Sickle Cell Anemia	Unconjugated hyperbilirubinemia, Cholelithiasis, Elevated circulating creatinine concentration, P...	ORPHA:232
Microphthalmia, Syndromic 5	Cataract, Microcornea, Coloboma, Optic nerve hypoplasia	OMIM:610125
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,...	ORPHA:90324
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve...	OMIM:301111
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Renal hypoplasia, Failure to thrive, Multiple small medullary...	OMIM:118450
Osteopetrosis, Autosomal Recessive 5	Short stature, Hyperbilirubinemia, Growth delay, Hypocalcemia	OMIM:259720
Cartilage-Hair Hypoplasia	Rhizomelia, Disproportionate short-limb short stature, Failure to thrive, Hypocalcemia, Mucopolys...	ORPHA:175
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Cockayne Syndrome A	Atypical scarring of skin, Failure to thrive, Intrauterine growth retardation, Renal insufficienc...	OMIM:216400
Neurooculorenal Syndrome	Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki...	OMIM:620305
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Renal insufficiency, Multiple lipoma...	OMIM:181270
Zygomycosis	Cellulitis, Nephritis, Hepatitis, Fasciitis, Renal insufficiency, Infectious encephalitis, Pustul...	ORPHA:73263
Macrophage Activation Syndrome	Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce...	ORPHA:158061
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Hemophagocytosis	ORPHA:86884
Coccidioidomycosis	Pneumonia, Atypical scarring of skin, Folliculitis, Morbilliform rash, Osteomyelitis, Renal insuf...	ORPHA:228123
Behçet Disease	Recurrent aphthous stomatitis, Renal insufficiency, Infectious encephalitis, Increased inflammato...	ORPHA:117
Arteriosclerosis, Severe Juvenile	Chronic kidney disease, Delayed puberty, Short stature	OMIM:208060
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Inguinal hernia, Multiple glomerula...	OMIM:267010
Enhanced S-Cone Syndrome	Cataract, Pigmentary retinopathy	OMIM:268100
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephrotic syndrome, Malar rash, Nephritis	OMIM:603909
Tuberous Sclerosis Complex	Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Renal angiomyolipoma...	ORPHA:805
Cranioectodermal Dysplasia 2	Rhizomelia, Recurrent pneumonia, Hyperbilirubinemia, Renal insufficiency, Inguinal hernia, Renal ...	OMIM:613610
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Decreased testicular size, Intrauterine growth retardation, Hypoplasia of the o...	OMIM:619321
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N...	OMIM:214500
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the urinary system physiology, Keratoconjunctivitis, Ca...	ORPHA:2552
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Dilatation of the renal pelvis, Failure to thrive, Increased circulating ferriti...	OMIM:619534
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Hellp Syndrome	Hemoglobinuria, Proteinuria, Acute kidney injury, Increased body weight	ORPHA:244242
Primary Sclerosing Cholangitis	Hypoalbuminemia, Hepatitis, Renal insufficiency, Weight loss, Pancreatitis, Ulcerative colitis, T...	ORPHA:171
Johanson-Blizzard Syndrome	Hypospadias, Urethrovaginal fistula, Failure to thrive, Exocrine pancreatic insufficiency, Intrau...	OMIM:243800
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology, Weight loss, Renal insufficiency	ORPHA:79430
Waldenström Macroglobulinemia	Renal insufficiency	ORPHA:33226
Glutaryl-Coa Dehydrogenase Deficiency	Chronic kidney disease, Glutaric aciduria	ORPHA:25
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Nephronophthisis, Rhizomelia, Failure to thrive, Umbilical hernia, Stage 5 c...	OMIM:266920
Beckwith-Wiedemann Syndrome	Nephropathy, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Obesity, Large for ...	ORPHA:116
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Recurrent urinary tract infections, Hypocalcemic tetany, Aplasia of the thymus...	ORPHA:83471
Fanconi Anemia	Abnormality of the urinary system, Hydroureter, Growth delay, Recurrent urinary tract infections,...	ORPHA:84
Cranioectodermal Dysplasia 3	Short stature, Rhizomelia, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:614099
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Abnormal dental enamel morphology, Renal insufficiency, Proteinuria...	ORPHA:2750
Autoimmune Lymphoproliferative Syndrome	Hepatitis, Recurrent aphthous stomatitis, Renal insufficiency, Gastritis, Glomerulonephritis, Art...	ORPHA:3261
Bardet-Biedl Syndrome	Chronic kidney disease, Inflammation of the large intestine, Horseshoe kidney, Obesity, Vesicoure...	ORPHA:110
Atelis Syndrome 2	Developmental cataract, Remnants of the hyaloid vascular system	OMIM:620185
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Serotonin Syndrome	Acute kidney injury	ORPHA:43116
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Failure to thrive, Vesicoureteral reflux,...	OMIM:616580
Listeriosis	Pneumonia, Acute kidney injury, Arteritis, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectio...	ORPHA:533
Ciliary Dyskinesia, Primary, 19	Male infertility	OMIM:614935
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T...	ORPHA:158048
Joubert Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu...	OMIM:610188
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:540
Scorpion Envenomation	Acute kidney injury, Ketonuria, Glycosuria, Hypokalemia, Increased circulating creatine kinase MB...	ORPHA:466677
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, A...	OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:267700
Autosomal Recessive Cutis Laxa Type 1	Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract...	ORPHA:90349
Degcags Syndrome	Chronic kidney disease, Pneumonia, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal h...	OMIM:619488
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis, Elevated circulating C-reactive pro...	ORPHA:449427
Norrie Disease	Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Retin...	ORPHA:649
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Atypical scarring of skin, ...	ORPHA:95455
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease	ORPHA:2752
Verloove Vanhorick-Brubakk Syndrome	Abnormal localization of kidney, Abnormality of the parathyroid gland, Cryptorchidism	ORPHA:3429
Niemann-Pick Disease, Type C1	Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis	OMIM:257220
Agel Amyloidosis	Proteinuria, Stage 5 chronic kidney disease, Keratoconjunctivitis sicca	ORPHA:85448
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Failure to thrive, Intrauterine growth retardation, Vesicoureteral ...	ORPHA:199
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Unilateral renal agenesis, Failure to thrive, Hypomagnesemia, Decreased re...	OMIM:619503
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Cortical cataract, Remnants of the hyaloid vascular system	ORPHA:637
Townes-Brocks Syndrome	Renal hypoplasia, Failure to thrive, Renal insufficiency, Vesicoureteral reflux, Multiple renal c...	ORPHA:857
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Leptospirosis	Acute kidney injury, Uveitis, Hepatitis, Skin rash, Optic neuritis, Cellular urinary casts, Hyper...	ORPHA:509
Igg4-Related Submandibular Gland Disease	Cholangitis, Prostatitis, Renal insufficiency, Abnormality of the kidney	ORPHA:449432
Townes-Brocks Syndrome 1	Renal hypoplasia, Multicystic kidney dysplasia, Small for gestational age, Umbilical hernia, Vesi...	OMIM:107480
Autosomal Recessive Malignant Osteopetrosis	Hypophosphatemia, Growth delay, Hypocalcemia	ORPHA:667
Neuroocular Syndrome 1	Cataract, Microcornea, Peters anomaly, Blue irides, Remnants of the hyaloid vascular system, Stel...	OMIM:619539
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233710
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis	OMIM:619351
Acute Liver Failure	Acute kidney injury, Hepatitis, Skin rash, Hyperammonemia, Hypocapnia	ORPHA:90062
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hydronephrosis, Hypocalcemia	OMIM:620330
Niemann-Pick Disease, Type C2	Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis	OMIM:607625
African Trypanosomiasis	Myelitis, Keratitis, Renal insufficiency, Abnormality of circulating cortisol level, Optic neurit...	ORPHA:3385
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:233690
Gm1-Gangliosidosis, Type Ii	Splenomegaly, Sea-blue histiocytosis	OMIM:230600
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Renal hypoplasia, Failure to thrive, Recurrent urinary tract infections, Intrauterine growth reta...	OMIM:617157
Costello Syndrome	Short stature, Renal insufficiency, Failure to thrive, Achilles tendon contracture	OMIM:218040
Blau Syndrome	Nephropathy, Posterior uveitis, Keratitis, Camptodactyly of finger, Stage 5 chronic kidney diseas...	ORPHA:90340
Floating-Harbor Syndrome	Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Growth delay, Stag...	ORPHA:2044
Granulomatous Disease, Chronic, X-Linked	Granuloma, Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess	OMIM:306400
Graft Versus Host Disease	Hepatosplenomegaly, Hemophagocytosis	ORPHA:39812
Microphthalmia, Syndromic 2	Microcornea, Retinal detachment, Developmental cataract, Remnants of the hyaloid vascular system,...	OMIM:300166
Partial Androgen Insensitivity Syndrome	Azoospermia, Male sexual dysfunction, Male infertility, Primary amenorrhea	ORPHA:90797
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Histiocytosis	ORPHA:168569
Hereditary Sensory And Autonomic Neuropathy Type 4	Chronic kidney disease, Atypical scarring of skin, Fasciitis, Osteomyelitis, Corneal scarring, Se...	ORPHA:642
Holoprosencephaly 2	Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system	OMIM:157170
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Aromatase Deficiency	Female infertility, Hypergonadotropic hypogonadism, Male infertility, Primary amenorrhea	ORPHA:91
Alström Syndrome	Chronic kidney disease, Glomerulonephritis, Urinary incontinence, Urinary retention, Obesity, Dor...	ORPHA:64
Granulomatosis With Polyangiitis	Granulomatosis	OMIM:608710
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Histiocytosis, Splenomegaly	OMIM:602782

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Xdh

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Xdh.

No publications found that use IMPC mice or data for Xdh.

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MGI Allele	Allele Type	Produced
Xdh^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Xdh^{tm428624(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Xdh^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Xdh MGI:98973

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Xdh mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data