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

Download data as: TSV XLS

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Viewing: all phenotypes

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 (1010 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		Xanthinuria, Hypouricemia, Hydronephrosis, Xanthine nephrolithiasis, Hyperxanthinemia, Pyelonephr...	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	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 87	Male infertility, Ruffled acrosome	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 62	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 88	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:620547
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Oocyte/Zygote/Embryo Maturation Arrest 16	Infertility	OMIM:617234
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 5	Male infertility, Macrozoospermia, Multiflagellar spermatozoa	OMIM:243060
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	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	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 79	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility	OMIM:620196
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 11	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618152
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:617576
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:619095
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,...	OMIM:613092
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Spermatogenic Failure 78	Male infertility, Tapered sperm head, Microcephalic sperm head	OMIM:620170
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:301099
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Xanthinuria, Type Ii	Xanthinuria, Hypouricemia, Nephrolithiasis, Increased circulating hypoxanthine concentration, Inc...	OMIM:603592
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C...	OMIM:618664
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Hyperparathyroidism 2 With Jaw Tumors	Parathyroid carcinoma, Renal cortical adenoma, Pancreatic adenocarcinoma, Polycystic kidney dyspl...	OMIM:145001
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia	OMIM:619831
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Renal tubular acidosis, Hypercalciuria, Failure to thrive, Nephrocalcinosis, Hypercalcemia, Hyper...	OMIM:239199
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619528
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla...	OMIM:301059
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:619515
Hyperparathyroidism 4	Parathyroid carcinoma, Hypercalcemia, Nephrolithiasis, Primary hyperparathyroidism	OMIM:617343
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Spermatogenic Failure 86	Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Spermatogenic Failure 50	Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619145
Spermatogenic Failure 63	Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili...	OMIM:618643
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Spermatogenic Failure 25	Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617960
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ...	OMIM:614817
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ...	OMIM:220150
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency, Hyperparathyroidism	ORPHA:2668
Blue Diaper Syndrome	Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration	OMIM:211000
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	OMIM:614196
Spermatogenic Failure 30	Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia	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	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Hypercalcemia, Infantile, 2	Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive,...	OMIM:616963
Hereditary Renal Hypouricemia	Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration...	ORPHA:94088
Hereditary Xanthinuria	Acute kidney injury, Hematuria, Xanthinuria, Hypouricemia, Recurrent urinary tract infections, De...	ORPHA:3467
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia	OMIM:609886
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros...	OMIM:310468
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Hypouricemia, Short stature, Glycosuria, Hyperphosphaturia, Nephrocalc...	OMIM:616026
Spermatogenic Failure 6	Male infertility, Globozoospermia, Decreased acrosin in sperm head	OMIM:102530
Xanthinuria, Type I	Xanthinuria, Hypouricemia, Hydronephrosis, Xanthine nephrolithiasis, Hyperxanthinemia, Pyelonephr...	OMIM:278300
Familial Isolated Hyperparathyroidism	Elevated circulating parathyroid hormone level, Hypercalciuria, Primary hyperparathyroidism, Hype...	ORPHA:99879
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Failure to thrive, Nephroc...	OMIM:143880
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Postnatal growth retardation, Stage 3 chronic kidney disease, Elevated circulating ...	OMIM:620366
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia	ORPHA:1646
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Elevated circulating long chai...	ORPHA:228302
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio...	OMIM:174000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Short stature, Chronic kidney dise...	OMIM:617056
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration, Abnor...	ORPHA:2843
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Pancreatitis, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia, Par...	OMIM:145980
Thymic Neuroendocrine Tumor	Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thymus, Primary ...	ORPHA:97289
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	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	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta...	OMIM:161900
Parathyroid Carcinoma	Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism	OMIM:608266
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Blue urine, Increased body weight...	ORPHA:94086
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Rhizomelia, ...	OMIM:614376
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Nephrocalcinosis, Hyperphosphatemia, Dec...	OMIM:146200
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Hypercalcemia	ORPHA:33111
Hypophosphatemic Rickets And Hyperparathyroidism	Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Renal phosphate wasting...	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
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypercalciuria, Hypouricemia	OMIM:242050
Fanconi-Bickel Syndrome	Postnatal growth retardation, Increased serum bile acid concentration, Generalized aminoaciduria,...	OMIM:227810
Juvenile Nephropathic Cystinosis	Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch...	ORPHA:411634
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypospadias,...	OMIM:614732
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Decreased body weight, Increased blood urea ...	OMIM:620085
Spermatogenic Failure 75	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619949
Nephronophthisis 18	Nephronophthisis, Thickened glomerular basement membrane, Renal tubular atrophy, Stage 5 chronic ...	OMIM:615862
Medullary cystic kidney disease 2	Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst...	OMIM:603860
Hyperparathyroidism 1	Hypercalcemia, Primary hyperparathyroidism	OMIM:145000
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ...	OMIM:301101
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy, Cataract	ORPHA:2253
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Polycystic Kidney Disease 7	Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic...	OMIM:620056
Senior-Loken Syndrome 1	Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Tubulointerstitial fib...	OMIM:266900
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,...	OMIM:618913
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c...	OMIM:602088
Hereditary Amyloidosis With Primary Renal Involvement	Renal interstitial amyloid deposits, Decreased HDL cholesterol concentration, Decreased glomerula...	ORPHA:85450
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthinuria, Decreased urinary sulfate, Hypouricemia, Increased urinary taurine, Decreased urinar...	OMIM:252150
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca...	OMIM:145981
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti...	ORPHA:567544
Primary Membranoproliferative Glomerulonephritis	Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro...	ORPHA:54370
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Nephritis, Renal tubular atroph...	OMIM:162000
Birk-Landau-Perez Syndrome	Hyperkalemia, Stage 3 chronic kidney disease, Growth delay, Renal hypoplasia, Hyperechogenic kidn...	OMIM:617595
Dent Disease	Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis...	ORPHA:1652
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Branchiootorenal Syndrome 2	Renal dysplasia, Renal insufficiency	OMIM:610896
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, H...	ORPHA:157
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Hypergonadotropic hypogonadism, I...	OMIM:617872
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Fa...	OMIM:604387
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate,...	OMIM:242530
Primary Fanconi Renotubular Syndrome	Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho...	ORPHA:3337
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthinuria, Hypouricemia, Increased urinary taurine, Decreased urinary urate, Growth delay, Incr...	OMIM:252160
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility	OMIM:261550
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla...	ORPHA:228308
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Nephrocalcinosis, Hypercalcemia, Hype...	OMIM:211900
Purine Nucleoside Phosphorylase Deficiency	Elevated urinary inosine level, Hypouricemia, Recurrent urinary tract infections, Decreased urina...	OMIM:613179
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis, Failure to thrive, Cyanosis	OMIM:263000
Nephronophthisis 1	Polyuria, Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement membrane...	OMIM:256100
Molybdenum Cofactor Deficiency, Complementation Group C	Hypertaurinemia, Hypouricemia, Hypocystinemia, Increased urinary taurine, Neonatal death	OMIM:615501
Nephronophthisis-Like Nephropathy 2	Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, Periglomerul...	OMIM:619468
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Bardet-Biedl Syndrome 10	Obesity, Renal insufficiency, Renal cyst	OMIM:615987
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Nephronophthisis, Obesity, Tubulointerstitial nephritis	OMIM:616629
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca...	OMIM:600740
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis...	OMIM:179800
Glomerulopathy With Fibronectin Deposits 2	Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul...	OMIM:601894
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Nephrolithiasis, Short stature, Hypophosphatemia, Hyperparathyroidism	ORPHA:93160
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hyperglycinemia, Methylmalonic acidemia, Pancreatitis, Hyperammonemia, Failure to thrive, Stage 5...	OMIM:251000
Spermatogenic Failure 38	Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp...	OMIM:618433
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Failure...	OMIM:613845
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration, Postnatal growth retardation	OMIM:615361
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Enlarged kidney, Increased blood urea nitrogen, Short stature, Obesity, Anhidros...	ORPHA:251004
Lesch-Nyhan Syndrome	Hyperuricemia, Hematuria, Renal insufficiency	ORPHA:510
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Renal dysplasia, Abnormal renal corticomedullary differentiation, I...	OMIM:616733
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Congenital hypoparathyroidism, Hypercalciuria, Hypocalcemia, Hypomagnesemi...	ORPHA:2239
Helix Syndrome	Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Xerostomia, Nephrolithiasis, Hypohidrosis,...	OMIM:617671
Bartter Syndrome, Type 1, Antenatal	Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperaldosteronism, ...	OMIM:601678
Alport Syndrome	Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi...	ORPHA:63
Glomerulopathy With Fibronectin Deposits 1	Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem...	OMIM:137950
Isochromosomy Yp	Male infertility, Azoospermia	ORPHA:98797
Hypocalcemia, Autosomal Dominant 1	Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,...	OMIM:601198
Small Cell Carcinoma Of The Bladder	Hypercalcemia, Recurrent urinary tract infections, Dysuria, Hematuria	ORPHA:284400
2P21 Microdeletion Syndrome	Hypocalcemia, Nephrolithiasis, Growth delay, Failure to thrive, Hypogonadism, Cystinuria	ORPHA:163693
Pseudohypoparathyroidism, Type Ib	Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra...	OMIM:603233
Bardet-Biedl Syndrome 18	Stage 5 chronic kidney disease, Renal insufficiency, Obesity	OMIM:615995
Glycogen Storage Disease Iv	Tubulointerstitial fibrosis, Arthrogryposis multiplex congenita, Failure to thrive, Flexion contr...	OMIM:232500
C3 Glomerulopathy 3	Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo...	OMIM:614809
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Chorioretinal colobom...	ORPHA:231736
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr...	OMIM:615008
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease	OMIM:602114
Pauci-Immune Glomerulonephritis	Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ar...	ORPHA:93126
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Cataract, Optic disc pallor	OMIM:165300
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Familial Isolated Hypoparathyroidism	Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Hypo...	ORPHA:2238
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Arthriti...	ORPHA:411536
Glucose-Galactose Malabsorption	Hematuria, Nephrolithiasis, Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss, Renal i...	ORPHA:35710
Bardet-Biedl Syndrome 14	Obesity, Renal insufficiency	OMIM:615991
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Steatorrhea, Decrease...	ORPHA:470
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration...	OMIM:614723
Bardet-Biedl Syndrome 16	Recurrent otitis media, Renal cyst, Renal agenesis, Short stature, Obesity, Renal dysplasia, Stag...	OMIM:615993
Diffuse Neonatal Hemangiomatosis	Hypercalcemia, Renal hypoplasia/aplasia, Renal insufficiency	ORPHA:2123
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Elevated circulating parathyroid hormone level, Hypercalciuria, Primary hyp...	OMIM:239200
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia...	OMIM:602522
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane, Cataract	OMIM:620253
Nephrotic Syndrome, Type 2	Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine...	OMIM:600995
Glycogen Storage Disease V	Elevated circulating creatine kinase concentration, Myoglobinuria, Dark urine, Hyperuricemia	OMIM:232600
Calciphylaxis	Secondary hyperparathyroidism, Stage 5 chronic kidney disease, Hyperphosphatemia	ORPHA:280062
C3 Glomerulopathy	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Nephrotic syndrome...	ORPHA:329918
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Fa...	ORPHA:488627
Nephronophthisis 4	Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Growth delay, Renal tubular atrophy, Sta...	OMIM:606966
Combined Oxidative Phosphorylation Deficiency 9	Failure to thrive, Hyperalaninemia, Tubulointerstitial nephritis	OMIM:614582
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circulating creatinine concentrat...	ORPHA:449395
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Non-Functioning Paraganglioma	Hematuria, Episodic hyperhidrosis, Elevated urinary epinephrine level, Elevated urinary norepinep...	ORPHA:94080
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr...	ORPHA:79233
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
Nail-Patella-Like Renal Disease	Glomerulopathy, Microscopic hematuria, Short stature, Proteinuria, Renal insufficiency	ORPHA:2613
Distal 16P11.2 Microdeletion Syndrome	Abnormality of the kidney, Hyperuricemia, Vesicoureteral reflux, Renal agenesis, Obesity, Protein...	ORPHA:261222
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Multiple Endocrine Neoplasia, Type Iv	Pancreatic endocrine tumor, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thyroiditis, C...	OMIM:610755
Uremic Pruritus	Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo...	ORPHA:94059
Focal Segmental Glomerulosclerosis 10	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron...	OMIM:256020
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Rhabdoid Tumor	Hypercalcemia, Renal neoplasm, Hematuria, Weight loss	ORPHA:69077
Adamantinoma	Hypercalcemia	ORPHA:55881
Focal Segmental Glomerulosclerosis 6	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:614131
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Short stature, Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Parathyroid Carcinoma	Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancrea...	ORPHA:143
Hyperuricemia, Hprt-Related	Hyperuricemia, Hyperuricosuria, Nephrolithiasis, Renal insufficiency	OMIM:300323
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s...	OMIM:612925
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Glomerulopathy, Hematuria, Myositis, Arthritis, Skin rash, Increased inflammatory re...	ORPHA:183
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr...	OMIM:300539
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility	OMIM:301060
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612926
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Generalized aminoaciduria,...	OMIM:264700
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate	ORPHA:760
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612924
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Hypocalcemia, Short stature, Hypothyroidism, Hypohidrosi...	ORPHA:1563
Nephrotic Syndrome, Type 1	Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Growth dela...	OMIM:256300
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Thyroiditis, Skin rash, Hepatitis, Nephrotic syndrome, Pustule, Infectious encephali...	ORPHA:139402
Pendred Syndrome	Thyroid carcinoma, Hypothyroidism, Goiter, Nephropathy, Hyperparathyroidism	ORPHA:705
Oculoskeletodental Syndrome	Hypocalcemia, Nephrocalcinosis, Hypercalcemia, Short stature	ORPHA:557003
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polyuria, Elevated circulating parathyroid hormone level, Nephrolithiasis, Parathyroid hyperplasi...	OMIM:617994
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Hyperuricemia, Arthritis, Uric acid nephrolithiasis, Cr...	ORPHA:411543
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosp...	OMIM:156400
Cystinuria	Hyperuricemia, Hematuria, Nephrolithiasis, Renal insufficiency	ORPHA:214
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Hyp...	ORPHA:284426
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Hyperparathyroidism-Jaw Tumor Syndrome	Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancreatitis, Hypercalciuria, ...	ORPHA:99880
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Delayed puberty, Tubulointerstitial fibrosis,...	ORPHA:79259
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Growth delay, Glycosuria, Hyperphosphaturia, Short stature, Ele...	OMIM:615605
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight...	ORPHA:189427
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Cachexia, Abnormal blood ion concentration, Psoriasiform dermatitis, Hypocalcemia, Thyroiditis, P...	ORPHA:37042
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hematuria, Episodic hyperhidrosis, Glomerular sclerosis, Extraadrenal pheochromocytoma, Adrenal p...	ORPHA:276621
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Oculoskeletodental Syndrome	Hypercalciuria, Hypocalcemia, Mucopolysacchariduria, Short stature, Hypothyroidism, Renal agenesi...	OMIM:618440
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag...	OMIM:603965
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Microscopic hematuria, Short stature, Proteinuria, Steroid-re...	OMIM:618176
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea...	OMIM:300555
Hyperuricemic Nephropathy, Familial Juvenile, 3	Abnormal renal insterstitial morphology, Impaired renal concentrating ability, Renal insufficienc...	OMIM:614227
Preeclampsia	Acute kidney injury, Abnormality of the kidney, Type I diabetes mellitus, Proteinuria, Chronic ki...	ORPHA:275555
Nephrotic Syndrome, Type 9	Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r...	OMIM:615573
Nephronophthisis 20	Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff...	OMIM:617271
Cystinuria	Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R...	OMIM:220100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Short stature, Hyperlipidemia, Hyperuricemia	ORPHA:364
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Hypophosphatasia, Infantile	Disproportionate short-limb short stature, Hypercalciuria, Elevated plasma pyrophosphate, Elevate...	OMIM:241500
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest...	ORPHA:567548
Zollinger-Ellison Syndrome	Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Adrenocorti...	ORPHA:913
Acute Adrenal Insufficiency	Renal salt wasting, Hyperkalemia, Delayed puberty, Hyperuricemia, Adrenal hypoplasia, Androgen in...	ORPHA:95409
Thyroid Hemiagenesis	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating free T3, Th...	ORPHA:95719
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd...	OMIM:617609
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia	OMIM:620152
Wilson Disease	Increased urinary copper concentration, Decreased circulating ceruloplasmin concentration, Hyperc...	OMIM:277900
Lead Poisoning	Delayed puberty, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration...	ORPHA:330015
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria	OMIM:614199
Fibronectin Glomerulopathy	Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur...	ORPHA:84090
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Inguinal hernia, Camptodactyly, Enuresis, Short stature, Tubulointerst...	ORPHA:459061
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency	OMIM:607832
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory inf...	ORPHA:49041
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria	OMIM:245900
Addison Disease	Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Primary testicul...	ORPHA:85138
Drug-Induced Lupus Erythematosus	Hematuria, Elevated circulating C-reactive protein concentration, Malar rash, Elevated circulatin...	ORPHA:231111
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Decreased circulating ACTH concentration, Hyperuricemia, Adrenocorticotropic ...	ORPHA:199299
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph...	OMIM:613779
Multiple Endocrine Neoplasia, Type Iia	Elevated urinary vanillylmandelic acid, Pheochromocytoma, Thyroid C cell hyperplasia, Elevated ur...	OMIM:171400
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Claw hand deformity, Elevated circulating creatine kinase concentration, Focal segmental glomerul...	OMIM:614455
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Glycogen Storage Disease Ia	Delayed puberty, Xanthelasma, Enlarged kidney, Pancreatitis, Decreased glomerular filtration rate...	OMIM:232200
Galloway-Mowat Syndrome 8	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Enamel hypoplasia, Renal tubul...	OMIM:618349
Pseudohypoparathyroidism Type 2	Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Pseudohypopa...	ORPHA:94090
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Rhabdomyolysis, Susceptibility To, 1	Abnormal circulating acylcarnitine concentration, Renal insufficiency, Elevated circulating creat...	OMIM:620235
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced ...	OMIM:603278
Oligomeganephronia	Elevated circulating creatinine concentration, Abnormal nephron morphology, Decreased glomerular ...	ORPHA:2260
Trichomegaly	Cataract	OMIM:190330
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cyst, Neonatal d...	OMIM:263200
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypocystinemia, Hypohomocysteinemia, Decreased serum creatinine, Failure to thrive, Short stature...	OMIM:617744
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Truncal obesity, Hyperuricemia, Ch...	OMIM:203800
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath...	OMIM:203330
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentration, Stage 5 c...	OMIM:248250
Cataract 9, Multiple Types	Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Glycogen Storage Disease Vii	Exercise-induced myoglobinuria, Hematuria, Cholelithiasis, Hyperuricemia, Elevated circulating cr...	OMIM:232800
Complement Factor H Deficiency	Thickened glomerular basement membrane, Hematuria, Glomerular subendothelial electron-dense depos...	OMIM:609814
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Acute kidney injury, Pneumonia, Hematuria, Decreased glomerular filtration rate, Ac...	ORPHA:340
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Hypocalcemia, Autoimmune hypoparathyroidism, Calcium nephrolithiasis, Hypo...	ORPHA:36913
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Episodic hyperhidrosis, Glomerular sclerosis, Extraadrenal pheochromocytoma, Adrenal p...	ORPHA:29072
Spermatogenic Failure 2	Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia	OMIM:108420
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Glycogen Storage Disease Ixb	Growth delay, Short stature, Hyperuricemia	OMIM:261750
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1909
Hypocalcemic Vitamin D-Dependent Rickets	Postnatal growth retardation, Elevated circulating parathyroid hormone level, Hypocalcemic seizur...	ORPHA:289157
Nephrotic Syndrome, Type 18	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta...	OMIM:618178
Nephrotic Syndrome, Type 20	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:301028
Hypophosphatasia	Short stature, Failure to thrive in infancy, Hypercalcemia	ORPHA:436
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Elevated urinary norepinephrine level, Hyperhidrosis, Hypercalcemia, Proteinuria	OMIM:171420
Nephronophthisis	Renal insufficiency	ORPHA:655
Focal Segmental Glomerulosclerosis 8	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:616032
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Skin rash, Chorioretinal...	ORPHA:91500
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Lessel-Kubisch Syndrome	Short stature, Renal hypoplasia, Renal insufficiency	OMIM:618681
Autosomal Recessive Kenny-Caffey Syndrome	Postnatal growth retardation, Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemia,...	ORPHA:93324
Nephrotic Syndrome, Type 26	Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s...	OMIM:620049
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypercholesterolemia, Growth delay, Hyperuricemia	OMIM:306000
Renal Tubular Acidosis, Proximal	Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis, S...	OMIM:179830
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Hypokalemia, Polycystic kidney dysplasia, Recurren...	OMIM:613095
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio...	OMIM:619386
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Morgagni-Stewart-Morel Syndrome	Abnormality of the endocrine system, Hyperuricemia, Hypothyroidism, Obesity, Abnormality of the t...	ORPHA:77296
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki...	ORPHA:2237
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Coats Disease	Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract	ORPHA:190
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Renal duplication, Proteinuria, Conjunctiviti...	ORPHA:33001
Hypotonia-Cystinuria Syndrome	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypocalcemia...	OMIM:606407
Hepatic Veno-Occlusive Disease	Increased total bilirubin, Increased body weight, Renal insufficiency	ORPHA:890
Coach Syndrome 3	Nephronophthisis, Renal interstitial inflammation, Renal tubular atrophy, Renal interstitial fibr...	OMIM:619113
Vitamin B12-Responsive Methylmalonic Acidemia	Hyperammonemia, Failure to thrive, Renal insufficiency	ORPHA:28
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:612462
Sanjad-Sakati Syndrome	Postnatal growth retardation, Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of pe...	ORPHA:2323
Lcat Deficiency	Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo...	ORPHA:650
Lethal Ataxia With Deafness And Optic Atrophy	Hypouricemia	ORPHA:1187
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Pelvic kidney, Recurrent urinary tra...	ORPHA:93101
Iga Nephropathy, Susceptibility To, 2	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:613944
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Episodic hyperhidrosis, Glomerular sclerosis, Increased blood urea nitrogen, Growth delay, Abnorm...	OMIM:223900
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Increased blood urea nitrogen, Ureteropelvic junction obstruction...	OMIM:154230
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Elevated circulating creatinine concentration, Maturity-onset diabetes...	OMIM:137920
Glycogen Storage Disease Xi	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Lesch-Nyhan Phenotype With Normal Hgprt	Hyperuricemia	OMIM:308950
Orthostatic Hypotension 1	Reduced circulating prolactin concentration, Increased blood urea nitrogen, Hypomagnesemia, Noctu...	OMIM:223360
Saccharopinuria	Elevated plasma citrulline, Cystinuria, Hypercystinemia, Hyperlysinemia, Short stature, Hyperammo...	ORPHA:3124
Multiple Myeloma	Acute kidney injury, Abnormality of the bladder, Nephrotic syndrome, Hypercalcemia, Weight loss, ...	ORPHA:29073
Insulinoma	Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi...	ORPHA:97279
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Vitamin D-Dependent Rickets, Type 2A	Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Growth delay, Failure to t...	OMIM:277440
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia	ORPHA:371
Cryoglobulinemia, Familial Mixed	Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c...	OMIM:123550
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Glycogen Storage Disease Ib	Delayed puberty, Xanthelasma, Enlarged kidney, Pancreatitis, Decreased glomerular filtration rate...	OMIM:232220
Isochromosomy Yq	Male infertility, Azoospermia	ORPHA:98798
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypocalcemic...	OMIM:241410
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi...	OMIM:620536
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Renal insufficiency	ORPHA:54057
Nephrotic Syndrome, Type 13	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:616893
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Gitelman Syndrome	Delayed puberty, Hypermagnesemia, Urinary incontinence, Chondrocalcinosis, Hypokalemia, Renal tub...	ORPHA:358
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone...	OMIM:618883
Malaria	Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Increased blood urea nitr...	OMIM:235400
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina	OMIM:613801
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Lens subluxation, Lattice retinal degeneration, Cataract	OMIM:614292
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypomagnesiuria, Hypocalciuria, Reduced rat...	ORPHA:405
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620438
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Lesch-Nyhan Syndrome	Hyperuricemia, Nephrolithiasis, Short stature, Nephrocalcinosis, Hyperuricosuria, Testicular atrophy	OMIM:300322
Arima Syndrome	Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ...	OMIM:243910
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Glomerulopathy, Abnormality of endocrine pancreas physiology, Aplasia/Hypopl...	ORPHA:93111
Focal Segmental Glomerulosclerosis 5	Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle...	OMIM:613237
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem...	OMIM:104200
Nephrosialidosis	Nephrotic syndrome, Nephropathy, Renal insufficiency	OMIM:256150
Cataract 21, Multiple Types	Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ...	OMIM:610202
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Elevated urinary catecholamine level, Elevated ur...	ORPHA:653
Mccune-Albright Syndrome	Precocious puberty, Pituitary adenoma, Hyperthyroidism, Elevated circulating growth hormone conce...	OMIM:174800
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	3-Methylglutaconic aciduria, Renal tubular acidosis, Hyperalaninemia, Elevated circulating creati...	ORPHA:324525
Retinitis Pigmentosa 84	Cataract, Macular coloboma, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:618220
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes...	OMIM:610725
Iga Nephropathy, Susceptibility To, 3	Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr...	OMIM:616818
Nephrotic Syndrome, Type 8	Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoa...	OMIM:615244
Sjogren Syndrome	Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis	OMIM:270150
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros...	OMIM:256370
Wagner Vitreoretinopathy	Optic atrophy, Cataract, Peripheral tractional retinal detachment, Retinal pigment epithelial atr...	OMIM:143200
Ppoma	Neoplasm of the pancreas, Increased circulating gonadotropin level, Cholelithiasis, Adrenocortica...	ORPHA:97278
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ...	OMIM:616730
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp...	ORPHA:439232
Multiple Endocrine Neoplasia Type 1	Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone ...	ORPHA:652
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Microscopic hematuria, Increased blood urea nitrogen, Abnormal renal p...	OMIM:274150
Medullary Thyroid Carcinoma	Pheochromocytoma, Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Nod...	ORPHA:1332
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Hematuria, Proteinuria	ORPHA:2134
Vipoma	Neoplasm of the pancreas, Increased circulating gonadotropin level, Hypokalemia, Adrenocortical a...	ORPHA:97282
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level, Abnormality of circulating cortisol level, Short ...	ORPHA:320
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Failure to thrive, Short stature	ORPHA:172
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Glycogen Storage Disease Ic	Delayed puberty, Xanthelasma, Hematuria, Decreased glomerular filtration rate, Chronic pancreatit...	OMIM:232240
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma...	ORPHA:1473
Multiple Endocrine Neoplasia, Type I	Adenoma sebaceum, Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary p...	OMIM:131100
Pseudohypoparathyroidism Type 1B	Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Low urinary cyclic ...	ORPHA:94089
Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia	Primary hyperparathyroidism	OMIM:600166
Genetic Steroid-Resistant Nephrotic Syndrome	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ...	ORPHA:656
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Nephroc...	ORPHA:534
Senior-Loken Syndrome	Short stature, Stage 5 chronic kidney disease, Nephronophthisis, Chronic kidney disease	ORPHA:3156
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Elevated circulating parathyroid hormone level, Hypophosphatemia, Growth delay	OMIM:619073
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Pheochromocytoma	Pheochromocytoma, Elevated urinary norepinephrine level, Renal artery stenosis, Hyperhidrosis, Hy...	OMIM:171300
Stickler Syndrome Type 2	Retinal detachment, Corneal opacity, Cataract	ORPHA:90654
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete...	OMIM:604367
Retinitis Pigmentosa 9	Cataract, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:180104
Prolactin Deficiency, Isolated	Infertility, Irregular menstruation	OMIM:264110
Nephrotic Syndrome, Type 22	Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem...	OMIM:619155
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Grfoma	Neoplasm of the pancreas, Increased circulating gonadotropin level, Cholelithiasis, Adrenocortica...	ORPHA:97261
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Adenine Phosphoribosyltransferase Deficiency	Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph...	ORPHA:976
Familial Visceral Myopathy	Megacystis, Vesicoureteral reflux, Hydroureter, Hyperparathyroidism	ORPHA:2604
Burkitt Lymphoma	Abnormality of the ovary, Hyperuricemia	ORPHA:543
Retinitis Pigmentosa 59	Intrauterine growth retardation, Failure to thrive, Renal insufficiency, Micropenis	OMIM:613861
Dent Disease 1	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ...	OMIM:300009
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency	OMIM:249660
Cocaine Intoxication	Acute kidney injury, Hematuria, Colitis, Elevated circulating creatine kinase concentration, Prot...	ORPHA:90068
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperuricemia, Hypercalciuria, Increased urine deoxypyridinoline level, Short ...	OMIM:239000
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Glutaric aciduria, Increased level of hippuric acid in urine, Hyperuricemia, Decreased circulatin...	OMIM:246450
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration	OMIM:193230
Infantile Myofibromatosis	Abnormality of the kidney, Neoplasm of the pancreas, Hypercalcemia	ORPHA:2591
Complement Component C1R/C1S Deficiency	Arthritis, Discoid lupus rash, Nephritis	OMIM:216950
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Male infertility, Oligozoospermia	ORPHA:48
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Elevated circulating creatine kinase concentration, Renal cyst, Renal insufficiency	OMIM:611773
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hematuria, Hyperuricemia	ORPHA:35909
Somatostatinoma	Neoplasm of the pancreas, Increased circulating gonadotropin level, Adrenocortical adenoma, Prima...	ORPHA:97283
Spermatogenic Failure 77	Male infertility, Oligozoospermia, Multiflagellar spermatozoa, Azoospermia	OMIM:620103
Iga Nephropathy, Susceptibility To, 1	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:161950
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypocalcemia, Short stature, Diabetes mellitus, Hypercholesterolemia	OMIM:612526
Morm Syndrome	Cataract, Retinal atrophy	ORPHA:75858
Galloway-Mowat Syndrome 2, X-Linked	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Short ...	OMIM:301006
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypoparathyroidism, Congenital megaureter, Hypercalciuria, Renal cyst, Prec...	ORPHA:369837
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Elevated circulating C-reactive protein concentration, Short statu...	OMIM:191900
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy, Cataract	OMIM:620312
Gaisböck Syndrome	Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hypernatriuria, Nephrocal...	ORPHA:90041
Juvenile Paget Disease	Short stature, Hyperuricemia	ORPHA:2801
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:612551
Papillorenal Syndrome	Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux...	OMIM:120330
Bardet-Biedl Syndrome 19	Renal hypoplasia, Obesity, Hydronephrosis, Renal insufficiency	OMIM:615996
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypospadias, Renal insufficiency, Hyperuricemia, Uric acid nephrolithiasis, Short stature, Urolit...	OMIM:300661
Acrorenal Syndrome	Abnormal renal morphology, Renal hypoplasia/aplasia, Renal insufficiency	ORPHA:971
Retinitis Pigmentosa 4	Cataract, Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy	OMIM:613731
Cockayne Syndrome Type 1	Postnatal growth retardation, Scarring, Foot joint contracture, Increased blood urea nitrogen, En...	ORPHA:90321
Hereditary Fructose Intolerance	Hypermagnesemia, Episodic hyperhidrosis, Hyperuricemia, Growth delay, Hypophosphatemia, Chronic k...	ORPHA:469
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Pancreatitis, Growth delay, Hyperammonemia, Renal insufficiency, Renal tubular dysfunction	ORPHA:289916
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria	OMIM:160010
Osteopetrosis, Autosomal Dominant 3	Hyperparathyroidism	OMIM:618107
Spinal Cord Injury	Urinary retention, Hypercalcemia, Urinary bladder sphincter dysfunction	ORPHA:90058
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Reni Syndrome	Hypertriglyceridemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephr...	OMIM:617575
Kenny-Caffey Syndrome, Type 1	Congenital hypoparathyroidism, Hypocalcemia, Proportionate short stature, Hypomagnesemia, Intraut...	OMIM:244460
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Eczematoid dermatitis, Nep...	OMIM:618348
Microphthalmia/Coloboma 12	Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colo...	OMIM:120200
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Renal Hypoplasia, Bilateral	Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinur...	ORPHA:97362
Cranioectodermal Dysplasia 1	Rhizomelia, Inguinal hernia, Hypocalcemia, Stage 1 chronic kidney disease, Enamel hypoplasia, Chr...	OMIM:218330
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R...	OMIM:615382
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Short stature, Glycosur...	OMIM:134600
Immunodeficiency, Common Variable, 6	Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hydronephrosis...	OMIM:613496
Intermediate Uveitis	Optic neuritis, Anterior uveitis, Macular scar, Psoriasiform dermatitis, Tubulointerstitial nephr...	ORPHA:279914
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem...	OMIM:614377
Coenzyme Q10 Deficiency, Primary, 6	Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St...	OMIM:614650
Congenital Disorder Of Glycosylation, Type Ih	Hypothyroidism, Failure to thrive, Decreased circulating T4 concentration, Intrauterine growth re...	OMIM:608104
Jeune Syndrome	Short stature, Nephronophthisis, Renal insufficiency, Nephropathy	ORPHA:474
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Ovarian cyst, Unilateral renal agenesis, Hyperparathyroidism	OMIM:618188
Fanconi Renotubular Syndrome 2	Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca...	OMIM:613388
X-Linked Immunoneurologic Disorder	Cataract, Recurrent respiratory infections, Abnormal pleura morphology	ORPHA:2571
Multicentric Carpotarsal Osteolysis Syndrome	Congenital diaphragmatic hernia, Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney dis...	OMIM:166300
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Osteopetrosis With Renal Tubular Acidosis	Renal tubular acidosis, Hypocalcemia, Nephrolithiasis, Elevated circulating creatine kinase conce...	ORPHA:2785
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys...	ORPHA:91495
Immunodeficiency 91 And Hyperinflammation	Hemolytic-uremic syndrome, Elevated circulating C-reactive protein concentration, Nephrotic syndr...	OMIM:619644
Laurence-Moon Syndrome	Hypoplasia of penis, Short stature, Obesity, Displacement of the urethral meatus, Renal insuffici...	ORPHA:2377
Hyperprolinemia Type 2	Prolinuria, Hyperalaninemia, Increased urine alpha-ketoglutarate concentration, Hydroxyprolinuria...	ORPHA:79101
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency	ORPHA:254857
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent otitis media, Tubulointerstitial fibrosis, Rheumatoid arthritis, Short stature, Recurre...	OMIM:607944
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Chorioretinal coloboma, Iris coloboma	OMIM:120433
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff...	ORPHA:84085
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull...	OMIM:617610
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Hydroxyprolinuria	OMIM:602080
Hypophosphatemic Rickets, X-Linked Recessive	Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciur...	OMIM:300554
Liddle Syndrome	Nephropathy, Hypokalemia, Renal insufficiency	ORPHA:526
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hyperammonemia, Pancreatitis, Renal insufficiency, Failure to thrive	ORPHA:79312
Posterior Urethral Valve	Postnatal growth retardation, Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary...	ORPHA:93110
Coach Syndrome 2	Elevated circulating creatinine concentration, Hyperechogenic kidneys	OMIM:619111
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency	ORPHA:3327
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Optic disc drusen, Retinal pigment epithelial atrophy, C...	OMIM:611040
Urofacial Syndrome 2	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro...	OMIM:615112
Acquired Ichthyosis	Recurrent skin infections, Renal insufficiency	ORPHA:454
Lymphedema-Hypoparathyroidism Syndrome	Short stature, Hypoparathyroidism, Nephropathy, Renal insufficiency	OMIM:247410
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Hematuria, Arthritis, Proteinuria, Renal insufficiency	ORPHA:375
Alg1-Cdg	Nephrotic syndrome, Hypoalbuminemia, Renal insufficiency, Abnormality of the kidney	ORPHA:79327
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cholangitis, Hypertyrosinemia, Failure to thrive, Neonatal death, Aminoaciduria, Tubulointerstiti...	OMIM:124000
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Disproportionate...	OMIM:618618
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Hematuria, Proteinuria, Weight loss	ORPHA:90060
Glucagonoma	Neoplasm of the pancreas, Increased circulating gonadotropin level, Adrenocortical adenoma, Prima...	ORPHA:97280
Relapsing Fever	Acute kidney injury, Hematuria, Elevated circulating C-reactive protein concentration, Increased ...	ORPHA:91547
Proteinuria, Chronic Benign	Renal insufficiency, Proteinuria, Albuminuria	OMIM:618884
Genetic Recurrent Myoglobinuria	Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc...	ORPHA:99845
Galloway-Mowat Syndrome 5	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta...	OMIM:617731
Nephrotic Syndrome, Type 21	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis...	OMIM:618594
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Elevated urinary dopamine level, Increased blood urea nitrogen, Nocturia, Eleva...	ORPHA:230
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t...	OMIM:221900
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Coloboma, Microcornea, Abnorma...	ORPHA:2334
Nephrotic Syndrome, Type 12	Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa...	OMIM:616892
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria	OMIM:268200
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Glomerulonephritis, Chronic kidney disease	ORPHA:2172
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Elevated circulatin...	ORPHA:368
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Hypoparathyroidism, Cholelithiasis, Proximal tubulopathy, Hypoth...	ORPHA:231222
Cystinosis	Delayed puberty, Hypokalemia, Nephropathy, Short stature, Failure to thrive, Proteinuria, Hypopho...	ORPHA:213
Renal Dysplasia	Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure...	ORPHA:93108
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Hypoparathyroidism, Unilateral renal dysplasia, Nephrotic syndrome, Thickened glomerul...	OMIM:146255
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Cholelithiasis, Female hypogonadism, Hypothyroidism, Primary adrenal insuffic...	OMIM:240300
Leber Congenital Amaurosis 8	Macular coloboma, Keratoconus, Nummular pigmentation of the fundus, Cataract, Pigmentary retinopathy	OMIM:613835
Neuroleptic Malignant Syndrome	Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur...	ORPHA:94093
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Rhizomelia, Unilateral renal agenesis, Short stature, Renal hypoplasia, Chronic kidney disease	OMIM:617661
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Alpha-Heavy Chain Disease	Hypocalcemia, Growth delay	ORPHA:100025
Anterior Segment Dysgenesis 2	Aniridia, Coloboma, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye apl...	OMIM:610256
Nephrogenic Diabetes Insipidus	Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of the bladder, Hypernatrem...	ORPHA:223
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycystic kidney dyspla...	OMIM:608836
Spermatogenic Failure 14	Male infertility, Round spermatid arrest, Azoospermia	OMIM:615842
Cone-Rod Dystrophy 16	Cataract, Bone spicule pigmentation of the retina, Macular atrophy, Optic disc pallor	OMIM:614500
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Monosomy 13Q34	Growth delay, Obesity, Hypercalcemia, Fetal pyelectasis	ORPHA:96168
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia...	OMIM:613090
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Urinary incontinence, Hypercalcemia	ORPHA:476126
Coloboma, Ocular, Autosomal Recessive	Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary adrenal insufficiency, Abnorma...	ORPHA:3143
Primary Sjögren Syndrome	Abnormality of the kidney, Keratoconjunctivitis sicca, Arteritis, Chronic active hepatitis, Myosi...	ORPHA:289390
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephrotic syndrome, Proteinuria,...	ORPHA:85445
Alport Syndrome 2, Autosomal Recessive	Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St...	OMIM:203780
Gapo Syndrome	Tubulointerstitial fibrosis, Growth delay, Umbilical hernia	OMIM:230740
Fibrous Dysplasia Of Bone	Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Testicular...	ORPHA:249
Goodpasture Syndrome	Glomerular crescent formation, Renal insufficiency, Increased blood urea nitrogen, Proteinuria, M...	OMIM:233450
Beta-Ketothiolase Deficiency	Hyperammonemia, Hyperuricemia, Weight loss, Ketonuria	ORPHA:134
Familial Mediterranean Fever, Autosomal Dominant	Erysipelas, Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency	OMIM:134610
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hemolytic-uremic syndrome, Reduced haptoglobin level, Hyperechogenic kidneys, Proteinuria, Modera...	OMIM:301110
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Growth delay	ORPHA:89937
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Maternal diabetes, Pancreatitis, Hyperuricemia, Polycystic ovaries, Diabete...	ORPHA:79083
Prune Belly Syndrome	Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,...	ORPHA:2970
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia	OMIM:618086
Syndromic Recessive X-Linked Ichthyosis	Short stature, Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia, Renal hypoplasia/aplasia, Intrauterine growth retardation	ORPHA:1438
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta, Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hyp...	OMIM:248190
Fructose-1,6-Bisphosphatase Deficiency	Increased urinary glycerol, Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia	ORPHA:348
Stickler Syndrome, Type V	Retinal detachment, Cataract	OMIM:614284
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Failu...	OMIM:191800
Pearson Syndrome	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypoparathyr...	ORPHA:699
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Double Outlet Right Ventricle	Hypoparathyroidism, Hypocalcemia, Short stature, Failure to thrive, Aplasia/Hypoplasia of the thymus	ORPHA:3426
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hypoparathyroidism, Hypocalcemia, Severe short stature, Hyperphosphat...	OMIM:127000
Pseudohypoparathyroidism, Type Ia	Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra...	OMIM:103580
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation	ORPHA:171844
Leber Congenital Amaurosis 16	Cataract, Optic disc pallor	OMIM:614186
Alagille Syndrome 2	Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency	OMIM:610205
Hyperoxaluria, Primary, Type Ii	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency	OMIM:260000
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Short stat...	OMIM:617730
Sarcoidosis	Scarring, Keratoconjunctivitis sicca, Maculopapular exanthema, Hypercalciuria, Parotitis, Nephrol...	ORPHA:797
Hypomagnesemia 2, Renal	Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting, Chondro...	OMIM:154020
Kearns-Sayre Syndrome	Hypoparathyroidism, Renal tubular acidosis, Short stature, Primary adrenal insufficiency, Diabete...	OMIM:530000
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphthalmos, Macular atro...	OMIM:212550
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Nephronophthisis 9	Postnatal growth retardation, Polyuria, Nephronophthisis, Renal cortical microcysts, Stage 5 chro...	OMIM:613824
Dihydropyrimidinase Deficiency	Uraciluria, Elevated urinary dihydrothymine level, Elevated urinary dihydrouracil level, Elevated...	OMIM:222748
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement memb...	OMIM:301050
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins...	ORPHA:1475
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hyperammonemia, Pancreatitis, Renal insufficiency	ORPHA:27
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone concentration, H...	OMIM:618183
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Hypotriglyceridemia, Decreased ser...	OMIM:618885
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Transient aminoaciduria, Hyperbilirubinemia, Proximal tubulopathy,...	OMIM:229600
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Hyperalaninemia, Growth delay, Failure to thrive, Mild proteinuria, Ren...	OMIM:619147
Ochoa Syndrome	Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re...	ORPHA:2704
Senior-Loken Syndrome 4	Polyuria, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:606996
Frasier Syndrome	Glomerulopathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Nephroblasto...	ORPHA:347
Cataract 10, Multiple Types	Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract	OMIM:600881
Megabladder, Congenital	Stage 5 chronic kidney disease, Fetal megacystis, Multiple glomerular cysts, Hyperechogenic kidneys	OMIM:618719
Primary Hyperoxaluria Type 1	Calcinosis, Hematuria, Decreased glomerular filtration rate, Hyperoxaluria, Recurrent urinary tra...	ORPHA:93598
Primary Hyperoxaluria Type 2	Hyperoxaluria, Recurrent urinary tract infections, Nephrolithiasis, Ureteral obstruction, Nephroc...	ORPHA:93599
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Growth delay, Renal hypoplasia, Hyp...	OMIM:617913
Bartter Syndrome Type 4	Renal salt wasting, Acute kidney injury, Severe failure to thrive, Hyperprostaglandinuria, Hypoka...	ORPHA:89938
3-Hydroxy-3-Methylglutaric Aciduria	Hyperuricemia, Acute pancreatitis, Hyperammonemia, 3-Methylglutaric aciduria, Weight loss, Ketonuria	ORPHA:20
Aicardi-Goutieres Syndrome 9	Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infections, Acute pancreatitis...	OMIM:619487
Paroxysmal Nocturnal Hemoglobinuria	Acute kidney injury, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hyperbilirubinemia,...	ORPHA:447
Joubert Syndrome 35	Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis	OMIM:618161
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Polycystic kidney dysplasia, Gout, Stage 5 chronic kidney d...	OMIM:618061
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hypocalcemia, Hyponatremia, Obesity, Hypoa...	ORPHA:247353
Autoimmune Polyendocrinopathy Type 4	Tubulointerstitial nephritis, Rheumatoid arthritis, Iridocyclitis, Atrophic gastritis, Hepatitis,...	ORPHA:227990
Cataract 47	Cataract, Microcornea	OMIM:612018
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Growth...	ORPHA:57
Bacterial Toxic-Shock Syndrome	Skin rash, Sinusitis, Cellulitis, Elevated circulating creatinine concentration, Myocarditis, Hyp...	ORPHA:36234
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Focal segmental glomerulosclerosis, Microscopi...	ORPHA:567546
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
Myh9-Related Disease	Nephritis, Nephropathy, Proteinuria, Renal insufficiency	ORPHA:182050
Isolated Sedoheptulokinase Deficiency	Abnormal renal tubule morphology, Steatorrhea, Inguinal hernia, Severe postnatal growth retardati...	ORPHA:440713
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Glomerular sclerosis, Proteinuria, Elevated circulating creatinine concentration, Nephropathy, Co...	ORPHA:247691
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Neonatal death, Renal dysplasia...	OMIM:614922
Autoimmune Polyendocrinopathy Type 3	Tubulointerstitial nephritis, Rheumatoid arthritis, Hashimoto thyroiditis, Iridocyclitis, Atrophi...	ORPHA:227982
Gracile Bone Dysplasia	Hypocalcemia, Failure to thrive, Micropenis, Short stature	OMIM:602361
Brain-Lung-Thyroid Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Hypospadias, ...	ORPHA:209905
Leiomyomatosis, Diffuse, With Alport Syndrome	Hematuria, Nephropathy, Microscopic hematuria, Thickened glomerular basement membrane, Failure to...	OMIM:308940
Leber Congenital Amaurosis	Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Spermatogenic Failure 13	Male infertility, Azoospermia	OMIM:615841
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma	OMIM:616722
Cataract 1, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract	OMIM:116200
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating creatinine concentration, Hyperbilirubinemia, Decreased...	ORPHA:542323
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria,...	OMIM:254900
Xfe Progeroid Syndrome	Cachexia, Corneal scarring, Enamel hypoplasia, Absence of subcutaneous fat, Failure to thrive, Se...	OMIM:610965
Peroxisome Biogenesis Disorder 11B	Cataract, Respiratory tract infection	OMIM:614885
Wolcott-Rallison Syndrome	Hyperbilirubinemia, Decreased body weight, Short stature, Hyperammonemia, Hyponatremia, Growth de...	ORPHA:1667
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency, Hyperbilirubinemia	ORPHA:713
Fanconi Anemia, Complementation Group O	Renal cyst, Short stature, Hydronephrosis, Neonatal death, Stage 5 chronic kidney disease	OMIM:613390
Complement Factor I Deficiency	Recurrent otitis media, Recurrent urinary tract infections, Recurrent sinusitis, Septic arthritis...	OMIM:610984
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Dominant Beta-Thalassemia	Delayed puberty, Abnormality of iron homeostasis, Hypoparathyroidism, Growth delay, Hypothyroidis...	ORPHA:231226
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent otitis media, Elevated circulating C-reactive protein concentration, Recurrent urinary ...	OMIM:615559
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperprostaglandinuria, Hypercalciuria, Hypocalcemia, Abnormal renal tubular resorption, Hypermag...	ORPHA:73224
Cystinosis, Nephropathic	Delayed puberty, Generalized aminoaciduria, Hypophosphatemia, Stage 5 chronic kidney disease, Red...	OMIM:219800
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Failure to thrive in infancy, Hypoparathyroidism	ORPHA:746
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Hypoplasia of penis, Short stature, Renal hypoplasia, Umbilical hernia, Renal dysplasia, Renal in...	ORPHA:85321
Legionnaires Disease	Myocarditis, Hematuria, Pancreatitis, Hepatitis, Hyponatremia, Pericarditis, Endocarditis, Protei...	ORPHA:549
Maternal Uniparental Disomy Of Chromosome 2	Postnatal growth retardation, Hypospadias, Chordee, Renal dysplasia, Elevated amniotic fluid alph...	ORPHA:96179
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre...	ORPHA:3453
Rhyns Syndrome	Short stature, Nephronophthisis, Renal insufficiency, Chronic kidney disease	OMIM:602152
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria	ORPHA:859
Pseudohypoparathyroidism Type 1C	Calcinosis, Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Decreas...	ORPHA:79444
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postnatal growth retardation, Hypocalcemia, Abnormal renal morphology, Hypoproteinemia, Pancreati...	ORPHA:1655
Refractory Celiac Disease	Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Weight loss, Hypoalbuminemia	ORPHA:398063
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Autosomal Dominant Kenny-Caffey Syndrome	Postnatal growth retardation, Hypocalcemic seizures, Abnormal circulating follicle-stimulating ho...	ORPHA:93325
Isolated Aniridia	Cataract, Peters anomaly, Aniridia	ORPHA:250923
Cockayne Syndrome	Postnatal growth retardation, Delayed puberty, Urinary incontinence, Unilateral renal agenesis, H...	ORPHA:191
Systemic Capillary Leak Syndrome	Myocarditis, Abnormal renal tubule morphology, Pancreatitis, Pericarditis, Weight loss, Oliguria,...	ORPHA:188
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Renal insufficiency	OMIM:300653
Babesiosis	Renal insufficiency	ORPHA:108
Norrie Disease	Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of...	OMIM:310600
Frasier Syndrome	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:136680
Distal Limb Deficiencies-Micrognathia Syndrome	Short stature, Renal hypoplasia, Renal insufficiency, Proteinuria	ORPHA:1307
Primary Hyperoxaluria	Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperoxaluria, Acrocyanosis...	ORPHA:416
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia...	ORPHA:26793
Igg4-Related Thyroid Disease	Euthyroid goiter, Hypocalcemia, Thyroiditis, Sialadenitis, Thyrotoxicosis with diffuse goiter, Ab...	ORPHA:64744
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process e...	OMIM:619609
Melas	Hypoparathyroidism, Proximal tubulopathy, Focal segmental glomerulosclerosis, Short stature, Fail...	ORPHA:550
Senior-Boichis Syndrome	Tubular luminal dilatation, Renal atrophy, Abnormal renal insterstitial morphology, Increased tot...	ORPHA:84081
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hematuria, Inflammatory abnormality of the eye, Arthritis, Skin rash, Episcleriti...	ORPHA:36412
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Hypospadias, Hypocalcemia, Failure to thrive, Cryptorchidism, Micropenis, Small for g...	OMIM:607143
Hypoparathyroidism, X-Linked	Congenital hypoparathyroidism	OMIM:307700
Schimke Immuno-Osseous Dysplasia	Pancreatitis, Minimal change glomerulonephritis, Nephrotic range proteinuria, Hyperlipidemia, Foc...	ORPHA:1830
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Glomerular...	OMIM:276700
Pediatric Systemic Lupus Erythematosus	Hematuria, Abnormality of the urinary system, Arthritis, Skin rash, Discoid lupus rash, Malar ras...	ORPHA:93552
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Nephritis, Glomerular bas...	OMIM:609057
Colchicine Poisoning	Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoph...	ORPHA:31824
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hematuria, Homocystinuria...	OMIM:277400
Aniridia 3	Cataract, Aniridia	OMIM:617142
Microlissencephaly-Micromelia Syndrome	Failure to thrive, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypop...	ORPHA:50810
Severe Acute Respiratory Syndrome	Acute infectious pneumonia, Acute kidney injury, Hypoxemia	ORPHA:140896
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Hydronephrosis, Cryptorchidism, Micro...	OMIM:235255
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Nephropathy, Obesity, Nephroblastoma, Renal insufficiency	OMIM:194072
Cryoglobulinemic Vasculitis	Glomerulopathy, Hematuria, Arthritis, Viral hepatitis, Proteinuria, Renal insufficiency, Keratoco...	ORPHA:91138
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia, Xerostomia	OMIM:175500
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Vesicoureteral reflux, Pseudohypoparathyroidism, Renal hypop...	ORPHA:464288
Bardet-Biedl Syndrome 9	Obesity, Renal insufficiency, Truncal obesity	OMIM:615986
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Oligozoospermia	ORPHA:3000
Beta-Thalassemia Major	Delayed puberty, Abnormality of iron homeostasis, Hypoparathyroidism, Growth delay, Hypothyroidis...	ORPHA:231214
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Liddle Syndrome 1	Decreased circulating renin level, Renal insufficiency, Hypokalemia	OMIM:177200
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Nephrotic syndrome, Growth delay, Proteinuria, Disproportiona...	OMIM:242900
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Camptodactyly, Nephrotic syndrome, Short stature, Proteinuria...	OMIM:251300
Simple Cryoglobulinemia	Abnormality of the kidney, Arthritis, Viral hepatitis, Nephrotic syndrome, Microscopic hematuria,...	ORPHA:91139
Al Amyloidosis	Abnormality of the kidney, Renal interstitial amyloid deposits, Increased circulating NT-proBNP c...	ORPHA:85443
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Renal cyst, Growth delay, Nephrocalcinosis, Renal insufficiency	ORPHA:445038
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Pancreatitis, Hypokalemia, Anuria, Unconjugated hyperbilirubinemia, Hyponatr...	ORPHA:90038
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Short stature, Obesity, Nephronophthisis, Chronic kidney disease	OMIM:615630
Amyloidosis, Finnish Type	Nephrotic syndrome, Urolithiasis, Renal glomerular amyloid deposition, Stage 5 chronic kidney dis...	OMIM:105120
Autosomal Dominant Hypocalcemia	Hypercalciuria, Hypocalcemia, Hypermagnesiuria, Nephrocalcinosis, Hypomagnesemia, Hyperphosphatemia	ORPHA:428
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Hypophosphatemic rickets, Proximal tubulopathy, Organic aciduria,...	OMIM:619743
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Thyroiditis, Tubulointerstitial nephritis, Weight loss, Keratoconjunctivitis sicca	ORPHA:79078
Cataract 3, Multiple Types	Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract	OMIM:601547
Meningococcal Meningitis	Infectious encephalitis, Skin rash, Renal insufficiency, Elevated circulating C-reactive protein ...	ORPHA:33475
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Failure to thrive, Hypophosphatemia, Growth delay	OMIM:600081
Wild Type Attr Amyloidosis	Renal insufficiency, Nephrotic syndrome, Proteinuria, Weight loss, Nephropathy	ORPHA:330001
Cholera	Acute kidney injury, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormality of renal excretion, Abn...	ORPHA:173
Heme Oxygenase 1 Deficiency	Hematuria, Elevated circulating C-reactive protein concentration, Growth delay, Nephritis, Protei...	OMIM:614034
Microscopic Polyangiitis	Glomerulopathy, Hematuria, Pancreatitis, Arthritis, Skin rash, Episcleritis, Sinusitis, Pericardi...	ORPHA:727
Pseudo-Torch Syndrome 3	Lymphadenitis, Acute kidney injury, Increased circulating ferritin concentration, Proteinuria	OMIM:618886
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Nephrocalcinosis, Multiple renal c...	ORPHA:904
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Congenital diaphragmatic hernia, Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, ...	OMIM:617641
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Retinal coloboma	OMIM:601794
Avian Influenza	Acute kidney injury, Myelitis, Elevated circulating C-reactive protein concentration, Elevated ci...	ORPHA:454836
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst	OMIM:617478
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst...	ORPHA:107
X-Linked Agammaglobulinemia	Hypocalcemia, Failure to thrive, Weight loss, Short stature	ORPHA:47
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
Imerslund-Grasbeck Syndrome 2	Recurrent urinary tract infections, Growth delay, Proteinuria, Renal insufficiency, Moderate albu...	OMIM:618882
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Hyperoxaluria, Primary, Type I	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Acrocyanosis, Elevat...	OMIM:259900
Porphyria Variegata	Elevated urinary delta-aminolevulinic acid, Scarring, Increased urinary porphobilinogen, Porphyri...	ORPHA:79473
Congenital Disorder Of Glycosylation, Type Iig	Postnatal growth retardation, Hemolytic-uremic syndrome, Hypospadias, Rhizomelia, Camptodactyly, ...	OMIM:611209
Lamellar Ichthyosis	Chronic otitis media, Renal insufficiency, Erythroderma, Short stature	ORPHA:313
Severe Oculo-Renal-Cerebellar Syndrome	Short stature, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity, Rhizomelia, Stage 1 chronic kidney disease	OMIM:618821
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Reduced subcutaneous adipose tissue, Chronic kidney disease...	OMIM:137940
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Retinal coloboma	ORPHA:363741
Primary Intestinal Lymphangiectasia	Hypocalcemia, Hypoproteinemia, Growth delay, Hypomagnesemia, Weight loss, Hypoalbuminemia	ORPHA:90362
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Caudal Regression Syndrome	Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Abnormality of the ureter, Renal age...	ORPHA:3027
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Postnatal growth retardation, Hypercholesterole...	OMIM:309000
Galloway-Mowat Syndrome 3	Glomerular sclerosis, Camptodactyly, Nephrotic syndrome, Short stature, Failure to thrive, Diffus...	OMIM:617729
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Generalized lipodystrophy, Loss of facial adipose tissue, L...	OMIM:608612
Systemic Sclerosis	Myocarditis, Acute kidney injury, Abnormality of the kidney, Arthritis, Elevated circulating crea...	ORPHA:90291
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Abnormality of thyroid physiology, Hypokalemia, Growth delay, G...	ORPHA:411629
Amelogenesis Imperfecta, Type Ig	Amelogenesis imperfecta, Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinos...	OMIM:204690
Ventriculomegaly With Cystic Kidney Disease	Hyperechogenic kidneys, Renal insufficiency, Tubular luminal dilatation, Renal corticomedullary c...	OMIM:219730
Albers-Schönberg Osteopetrosis	Hypocalcemia, Short stature	ORPHA:53
Pseudohypoparathyroidism Type 1A	Calcinosis, Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Decreas...	ORPHA:79443
Williams-Beuren Syndrome	Abnormal renal morphology, Early onset of sexual maturation, Nephrocalcinosis, Urethral stenosis,...	OMIM:194050
Velocardiofacial Syndrome	Hypocalcemia, Cryptorchidism, Hypoparathyroidism, Short stature	OMIM:192430
Porphyria Cutanea Tarda	Scarring, Increased urinary porphobilinogen, Decreased circulating hepcidin concentration, Porphy...	ORPHA:101330
Timothy Syndrome	Hypocalcemia, Hypothyroidism	OMIM:601005
Joubert Syndrome 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst	OMIM:611560
Oncogenic Osteomalacia	Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting	ORPHA:352540
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal cyst, Short stature, Nephritis, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney ...	OMIM:208500
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Scrub Typhus	Myocarditis, Skin rash, Anterior uveitis, Renal insufficiency, Infectious encephalitis	ORPHA:83317
Ethylene Glycol Poisoning	Hyperkalemia, Renal tubular epithelial necrosis, Hematuria, Gastritis, Decreased urine output, Hy...	ORPHA:31826
Steinert Myotonic Dystrophy	Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to growth hormone stimula...	ORPHA:273
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Hypoplasia of penis, Vesicoureteral reflux, Femoral hernia, Growth delay, Failur...	ORPHA:96147
Castleman Disease	Hematuria, Elevated circulating C-reactive protein concentration, Ureteral obstruction, Weight lo...	ORPHA:160
Variant Abeta2M Amyloidosis	Renal amyloidosis, Chronic kidney disease	ORPHA:314652
Nephronophthisis 11	Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Renal tubular...	OMIM:613550
Boutonneuse Fever	Skin rash, Renal insufficiency, Maculopapular exanthema	ORPHA:83313
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Celiac Disease, Susceptibility To, 1	Delayed puberty, Postnatal growth retardation, Hypocalcemia, Thyroiditis, Short stature, Failure ...	OMIM:212750
Systemic Lupus Erythematosus	Malar rash, Arthritis, Pericarditis, Nephritis, Lupus nephritis	OMIM:152700
Renal Agenesis	Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age...	ORPHA:411709
Pseudo-Torch Syndrome 1	Failure to thrive, Renal insufficiency, Umbilical hernia	OMIM:251290
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Bronchiolitis, Recurrent sinopulmonary infections, Cataract, Interstitial pneumo...	OMIM:614878
Exudative Vitreoretinopathy 6	Patchy atrophy of the retinal pigment epithelium, Retinal detachment, Tractional retinal detachme...	OMIM:616468
Kleefstra Syndrome	Chronic otitis media, Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Short ...	ORPHA:261494
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hypospadias, Cholelithiasis, Hypocalcemia, Polycystic kidney dysplasia, Vesic...	ORPHA:567
Enamel-Renal Syndrome	Amelogenesis imperfecta, Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability...	ORPHA:1031
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis, Renal tubular...	OMIM:617303
Nephrolithiasis, Calcium Oxalate, 1	Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit...	OMIM:167030
Mitochondrial Complex I Deficiency, Nuclear Type 29	Failure to thrive, Stage 5 chronic kidney disease, Hyperalaninemia, Lacticaciduria	OMIM:618250
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hyperhomocystinemia, Stomatiti...	ORPHA:79282
Fabry Disease	Delayed puberty, Urinary mulberry cells, Proteinuria, Lipiduria, Renal insufficiency	OMIM:301500
Acute Intermittent Porphyria	Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog...	ORPHA:79276
Granulomatosis With Polyangiitis	Chronic otitis media, Glomerulopathy, Prostatitis, Hematuria, Pancreatitis, Elevated circulating ...	ORPHA:900
Dubowitz Syndrome	Postnatal growth retardation, Hypoparathyroidism, Hypospadias, Short stature, Hydronephrosis, Int...	ORPHA:235
Craniofacioskeletal Syndrome	Hypospadias, Hypocalcemia, Short stature, Hydronephrosis, Absent gallbladder, Intrauterine growth...	OMIM:300712
Familial Dysautonomia	Abnormality of the kidney, Glomerulopathy, Growth delay, Hyponatremia, Acrocyanosis, Renal insuff...	ORPHA:1764
Nail-Patella Syndrome	Abnormality of the kidney, Hematuria, Knee flexion contracture, Arthritis, Elbow flexion contract...	ORPHA:2614
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Ureterocele, Short stature, Multicystic kidney dys...	ORPHA:261265
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Gastrointestinal inflammation, Delayed puberty, Chronic kidney disease, Foot joint contracture, A...	ORPHA:79408
Snakebite Envenomation	Acute kidney injury, Hyponatremia	ORPHA:449285
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Hypocalcemia, Hyperbilirubinemia, Short stature, Hydronephrosis, Absent gallbladder,...	ORPHA:163979
Atresia Of Urethra	Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux...	ORPHA:105
Fabry Disease	Abnormal circulating lipid concentration, Abnormal renal tubule morphology, Glomerulopathy, Delay...	ORPHA:324
Nail-Patella Syndrome	Hematuria, Nephrotic syndrome, Short stature, Proteinuria, Renal insufficiency, Glomerulonephritis	OMIM:161200
Plasminogen Deficiency, Type I	Periodontitis, Nephrolithiasis, Decreased level of plasminogen, Nephritis, Conjunctivitis	OMIM:217090
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication, Failure to thrive, Low plasma citr...	OMIM:311250
Shigellosis	Myocarditis, Urethritis, Acute kidney injury, Pneumonia, Hemolytic-uremic syndrome, Acute colitis...	ORPHA:810
Senior-Loken Syndrome 3	Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts	OMIM:606995
Bardet-Biedl Syndrome 17	Polyuria, Renal cyst, Obesity, Stage 5 chronic kidney disease, Micropenis	OMIM:615994
Senior-Loken Syndrome 8	Stage 5 chronic kidney disease, Global glomerulosclerosis, Nephronophthisis, Glomerular subepithe...	OMIM:616307
Galloway-Mowat Syndrome 9	Hiatus hernia, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glome...	OMIM:619603
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a...	OMIM:613159
Diffuse Cutaneous Systemic Sclerosis	Oliguria, Arthritis, Renal insufficiency, Flexion contracture	ORPHA:220393
Feingold Syndrome Type 1	Abnormality of the kidney, Vesicoureteral reflux, Short stature, Nephritis, Hydronephrosis, Renal...	ORPHA:391641
Martin-Probst Syndrome	Renal insufficiency, Short stature, Chordee, Proteinuria, Umbilical hernia, Micropenis	OMIM:300519
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Hyperc...	ORPHA:423
Sifrim-Hitz-Weiss Syndrome	Short stature, Vesicoureteral reflux, Micropenis, Renal insufficiency	OMIM:617159
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Joubert Syndrome 2	Failure to thrive, Nephronophthisis, Renal insufficiency, Renal cyst	OMIM:608091
Ring Chromosome Y Syndrome	Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Female infertility, S...	ORPHA:261529
Denys-Drash Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Posterolateral diaphragmatic hernia, Focal segm...	OMIM:194080
Thyrocerebroretinal Syndrome	Nephritis	OMIM:274240
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid...	OMIM:609049
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor	OMIM:619649
Hand-Foot-Genital Syndrome	Hypospadias, Renal insufficiency, Vesicoureteral reflux, Chordee, Ureteropelvic junction obstruct...	OMIM:140000
Lujo Hemorrhagic Fever	Myocarditis, Elevated circulating C-reactive protein concentration, Skin rash, Fulminant hepatiti...	ORPHA:319213
Sepsis In Premature Infants	Cyanosis, Elevated circulating C-reactive protein concentration, Decreased body weight, Enterocol...	ORPHA:90051
Joubert Syndrome 9	Stage 5 chronic kidney disease	OMIM:612285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s...	OMIM:614643
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Hematuria, Aspiration pneumonia, Failure to thrive, Keratitis, Proteinuria, Weight loss, Chronic ...	ORPHA:1018
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Pyelonephritis, Nephritis, Renal dysplasia, Keloids	OMIM:314300
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Erdheim-Chester Disease	Xanthelasma, Skin rash, Dysuria, Hydronephrosis, Weight loss, Renal insufficiency, Osteomyelitis	ORPHA:35687
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia, Failure to thrive	OMIM:259700
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren...	OMIM:614748
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Stage 5 chronic kidney disease	OMIM:613819
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Hypospadias, Renal cortical cysts, Rhizomelic arm shortening, Short st...	ORPHA:397715
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Reti...	OMIM:612109
Lysinuric Protein Intolerance	Oroticaciduria, Pancreatitis, Intraalveolar phospholipid accumulation, Short stature, Hyperammone...	OMIM:222700
Refsum Disease	Renal insufficiency	ORPHA:773
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated circulating C-reactive pr...	ORPHA:97214
Distal Deletion 10Q	Postnatal growth retardation, Acute kidney injury, Vesicoureteral reflux, Enuresis, Functional ab...	ORPHA:96148
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Coach Syndrome 1	Nephronophthisis, Unilateral renal agenesis, Renal cyst, Growth delay, Stage 5 chronic kidney dis...	OMIM:216360
Pseudopseudohypoparathyroidism	Short stature, Obesity, Pseudohypoparathyroidism	OMIM:612463
Mercury Poisoning	Acute kidney injury, Interstitial pneumonitis, Hypokalemia	ORPHA:330021
Joubert Syndrome With Oculorenal Defect	Renal insufficiency, Nephropathy	ORPHA:2318
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Short stature, Renal insufficiency, Horses...	ORPHA:140952
Giant Cell Arteritis	Hematuria, Arthritis, Pericarditis, Weight loss, Renal insufficiency	ORPHA:397
Charge Syndrome	Postnatal growth retardation, Delayed puberty, Decreased response to growth hormone stimulation t...	OMIM:214800
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Inguinal hernia, Renal insufficiency	ORPHA:1454
Tafro Syndrome	Renal insufficiency, Elevated circulating C-reactive protein concentration	ORPHA:457077
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:86818
Joubert Syndrome With Renal Defect	Renal insufficiency, Nephropathy	ORPHA:220497
Immunoglobulin A Vasculitis	Glomerulopathy, Hematuria, Arthritis, Skin rash, Episcleritis, Pustule, Proteinuria, Orchitis, Re...	ORPHA:761
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Polycystic kidney dysplasia, Neonatal death, Ureteral atresia, Renal dysplasia, ...	OMIM:208540
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Heterochromia iridis, Anisocoria, Papilledema,...	ORPHA:263479
Cardiogenic Shock	Oliguria, Elevated circulating creatinine concentration	ORPHA:97292
Sotos Syndrome	Abnormality of the kidney, Ureteral duplication, Hypospadias, Phimosis, Vesicoureteral reflux, Hy...	ORPHA:821
Bangstad Syndrome	Hyperinsulinemia, Abnormal testis morphology, Short stature, Hypothyroidism, Primary gonadal insu...	ORPHA:1227
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Hypoplasia of the ...	OMIM:106210
Relapsing Polychondritis	Myocarditis, Glomerulopathy, Hematuria, Recurrent aphthous stomatitis, Inflammatory abnormality o...	ORPHA:728
Liver Disease, Severe Congenital	Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Intrauterine growth retardation, Hypospadia...	OMIM:619991
Familial Osteodysplasia, Anderson Type	Hyperuricemia	ORPHA:2769
Spondyloenchondrodysplasia	Hematuria, Arthritis, Skin rash, Short stature, Proteinuria, Disproportionate short-trunk short s...	ORPHA:1855
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome	OMIM:268315
Sickle Cell Disease	Hypoxemia, Hematuria, Renal insufficiency	OMIM:603903
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Hypoparathyroidism, Short stature, Hashimo...	OMIM:618223
Cranioectodermal Dysplasia 4	Short stature, Stage 5 chronic kidney disease, Recurrent pneumonia	OMIM:614378
Marburg Hemorrhagic Fever	Pancreatitis, Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, H...	ORPHA:99826
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Abnormality of the kidney, Urinary incontinence, Bifid pen...	ORPHA:322
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Yellow Fever	Acute kidney injury, Hyperbilirubinemia, Anuria, Acute pancreatitis, Elevated circulating creatin...	ORPHA:99829
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Skin rash, Increased body weight, ...	ORPHA:2298
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Cholangitis, Polyc...	ORPHA:731
Pyomyositis	Myositis, Recurrent cutaneous abscess formation, Renal insufficiency, Weight loss	ORPHA:764
Hennekam Syndrome	Hypocalcemia, Mild postnatal growth retardation, Horseshoe kidney, Ectopic kidney	ORPHA:2136
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Acute kidney injury, Pancreatitis, Hypocalcemia, Anuria, Nephrotic range proteinuri...	ORPHA:544482
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypocalcemia, Recurrent urinary tract infections, Unconjugated hyperbilirubinemia, Short stature,...	OMIM:613658
Stevens-Johnson Syndrome	Pancreatitis, Dysuria, Weight loss, Conjunctivitis, Renal insufficiency, Abnormality of the urethra	ORPHA:36426
Acute Generalized Exanthematous Pustulosis	Cheilitis, Predominantly dermal neutrophilic infiltrate, Pustule, Eosinophilic dermal infiltratio...	ORPHA:293173
Cataract 20, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract	OMIM:116100
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Acute kidney injury, Hypocalcemia, Elevated circulating creatine kinase concentrati...	ORPHA:466650
Hardikar Syndrome	Hydroureter, Cholangitis, Hyperbilirubinemia, Recurrent urinary tract infections, Vesicoureteral ...	OMIM:301068
Familial Mediterranean Fever	Elevated circulating C-reactive protein concentration, Crohn's disease, Arthritis, Nephrotic synd...	OMIM:249100
Digeorge Syndrome	Unilateral renal agenesis, Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Short stature,...	OMIM:188400
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Toxic Epidermal Necrolysis	Pancreatitis, Dysuria, Weight loss, Conjunctivitis, Renal insufficiency, Abnormality of the urethra	ORPHA:537
Hermansky-Pudlak Syndrome 1	Inflammation of the large intestine, Renal insufficiency, Colitis	OMIM:203300
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Short stature, Renal insufficiency	OMIM:226980
Cockayne Syndrome B	Postnatal growth retardation, Severe failure to thrive, Renal insufficiency, Reduced subcutaneous...	OMIM:133540
Sickle Cell Anemia	Elevated circulating creatinine concentration, Pigment gallstones, Cholelithiasis, Unconjugated h...	ORPHA:232
Ciliary Dyskinesia, Primary, 14	Male infertility, Immotile sperm, Reduced sperm motility	OMIM:613807
Hamamy Syndrome	Cryptorchidism, Hypoparathyroidism	OMIM:611174
Microphthalmia, Syndromic 5	Cataract, Optic nerve hypoplasia, Coloboma, Microcornea	OMIM:610125
Cockayne Syndrome Type 3	Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Renal hypoplasia, Enamel hypoplasia, ...	ORPHA:90324
Intellectual Developmental Disorder, X-Linked 112	Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis...	OMIM:301111
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia, Short stature, Growth delay	OMIM:259720
Alagille Syndrome 1	Hypertriglyceridemia, Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux...	OMIM:118450
Cartilage-Hair Hypoplasia	Rhizomelia, Disproportionate short-limb short stature, Hypocalcemia, Mucopolysacchariduria, Failu...	ORPHA:175
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Cataract 31, Multiple Types	Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract	OMIM:605387
Neurooculorenal Syndrome	Postnatal growth retardation, Unilateral renal agenesis, Bilateral renal agenesis, Decreased circ...	OMIM:620305
Cockayne Syndrome A	Renal insufficiency, Severe postnatal growth retardation, Short stature, Reduced subcutaneous adi...	OMIM:216400
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Short stature, Renal hypoplasia, Multiple lipomas, Renal insufficiency...	OMIM:181270
Zygomycosis	Myocarditis, Pancreatitis, Gastritis, Renal insufficiency, Acute infectious pneumonia, Hepatitis,...	ORPHA:73263
Coccidioidomycosis	Morbilliform rash, Abnormality of the kidney, Pneumonia, Panniculitis, Pancreatitis, Abnormality ...	ORPHA:228123
Behçet Disease	Glomerulopathy, Pancreatitis, Recurrent aphthous stomatitis, Myositis, Optic neuritis, Arthritis,...	ORPHA:117
Arteriosclerosis, Severe Juvenile	Delayed puberty, Short stature, Chronic kidney disease	OMIM:208060
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephrotic syndrome, Nephritis, Malar rash	OMIM:603909
Meckel Syndrome, Type 7	Stage 5 chronic kidney disease, Multicystic kidney dysplasia, Multiple glomerular cysts, Inguinal...	OMIM:267010
Enhanced S-Cone Syndrome	Cataract, Pigmentary retinopathy	OMIM:268100
Tuberous Sclerosis Complex	Abnormality of the kidney, Polycystic kidney dysplasia, Renal cell carcinoma, Renal cyst, Chronic...	ORPHA:805
Cranioectodermal Dysplasia 2	Rhizomelia, Cholangitis, Inguinal hernia, Hyperbilirubinemia, Renal cyst, Short stature, Recurren...	OMIM:613610
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Hypoplasia of the ovary, Short stature, Renal hypoplasia, Decreased testicular size, In...	OMIM:619321
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated circulating creatinine concentration, Hypercholesterolemia, Diabetes insipidus, Hyperbil...	OMIM:619534
Microsporidiosis	Cachexia, Sinusitis, Myocarditis, Cholangitis, Thyroiditis, Nephritis, Weight loss, Pneumonia, Os...	ORPHA:2552
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Cataract 15, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:611391
Hellp Syndrome	Acute kidney injury, Proteinuria, Increased body weight, Hemoglobinuria	ORPHA:244242
Primary Sclerosing Cholangitis	Pancreatitis, Thyroiditis, Hepatitis, Ulcerative colitis, Weight loss, Hypoalbuminemia, Renal ins...	ORPHA:171
Johanson-Blizzard Syndrome	Hypospadias, Hypocalcemia, Primary hypothyroidism, Hypoplastic nipples, Severe intrauterine growt...	OMIM:243800
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology, Renal insufficiency, Weight loss	ORPHA:79430
Waldenström Macroglobulinemia	Renal insufficiency	ORPHA:33226
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease	ORPHA:25
Beckwith-Wiedemann Syndrome	Large for gestational age, Enlarged kidney, Ureteral duplication, Abnormal pancreas morphology, C...	ORPHA:116
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Ureteral duplication, Nephronophthisis, Cholangitis, Rhizomelia, Renal dyspl...	OMIM:266920
T-Cell Immunodeficiency With Thymic Aplasia	Thyroiditis, Recurrent urinary tract infections, Hypothyroidism, Failure to thrive, Hypocalcemic ...	ORPHA:83471
Fanconi Anemia	Renal hypoplasia/aplasia, Hydroureter, Abnormal preputium morphology, Hypospadias, Abnormality of...	ORPHA:84
Cranioectodermal Dysplasia 3	Short stature, Stage 5 chronic kidney disease, Nephronophthisis, Rhizomelia	OMIM:614099
Orofaciodigital Syndrome Type 1	Chronic otitis media, Renal insufficiency, Abnormal dental enamel morphology, Hydronephrosis, Pro...	ORPHA:2750
Autoimmune Lymphoproliferative Syndrome	Panniculitis, Recurrent aphthous stomatitis, Gastritis, Thyroiditis, Colitis, Arthritis, Uveitis,...	ORPHA:3261
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Childhood-onset truncal obesity, H...	ORPHA:110
Atelis Syndrome 2	Developmental cataract, Remnants of the hyaloid vascular system	OMIM:620185
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Short stature, Renal h...	OMIM:614527
Serotonin Syndrome	Acute kidney injury	ORPHA:43116
Au-Kline Syndrome	Vesicoureteral reflux, Failure to thrive, Hydronephrosis, Chronic kidney disease, Dilatation of t...	OMIM:616580
Listeriosis	Myocarditis, Acute kidney injury, Pyelonephritis, Arteritis, Pericarditis, Pustule, Septic arthri...	ORPHA:533
Ciliary Dyskinesia, Primary, 19	Male infertility	OMIM:614935
Joubert Syndrome 5	Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti...	OMIM:610188
Scorpion Envenomation	Myocarditis, Acute kidney injury, Increased circulating NT-proBNP concentration, Hypokalemia, Acu...	ORPHA:466677
Igg4-Related Pachymeningitis	Pancreatitis, Elevated circulating C-reactive protein concentration, Parotitis, Lymphadenitis, Si...	ORPHA:449427
Autosomal Recessive Cutis Laxa Type 1	Multiple bladder diverticula, Inguinal hernia, Recurrent urinary tract infections, Vesicoureteral...	ORPHA:90349
Degcags Syndrome	Abnormal renal medulla morphology, Hypospadias, Small for gestational age, Hiatus hernia, Hyperbi...	OMIM:619488
Norrie Disease	Optic atrophy, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacity, Remnants of t...	ORPHA:649
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease	ORPHA:2752
Verloove Vanhorick-Brubakk Syndrome	Abnormality of the parathyroid gland, Cryptorchidism, Abnormal localization of kidney	ORPHA:3429
Agel Amyloidosis	Stage 5 chronic kidney disease, Proteinuria, Keratoconjunctivitis sicca	ORPHA:85448
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Delayed puberty, Hypospadias, Multicystic kidney dysplasia, Hypo...	ORPHA:199
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Acute kidney injury, Renal tubular epithelial necrosis, Hematuria,...	ORPHA:95455
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Small pituitary...	OMIM:619503
Full Nf2-Related Schwannomatosis	Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system	ORPHA:637
Townes-Brocks Syndrome	Delayed puberty, Abnormality of the kidney, Hypospadias, Ectopic kidney, Hypoplasia of penis, Ves...	ORPHA:857
Leptospirosis	Acute kidney injury, Optic neuritis, Skin rash, Cellular urinary casts, Pericarditis, Hyperprotei...	ORPHA:509
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Prostatitis, Renal insufficiency, Cholangitis	ORPHA:449432
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia, Growth delay	ORPHA:667
Townes-Brocks Syndrome 1	Hypospadias, Renal insufficiency, Vesicoureteral reflux, Renal hypoplasia, Urethral valve, Umbili...	OMIM:107480
Neuroocular Syndrome	Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Lens coloboma, Brushfield sp...	OMIM:619539
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Fetal megacystis, Renal cortical hyperechogenicity, Peritonitis, Megacystis, Pyelonephritis	OMIM:619351
Acute Liver Failure	Acute kidney injury, Skin rash, Hyperammonemia, Hepatitis, Hypocapnia	ORPHA:90062
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Hydronephrosis	OMIM:620330
African Trypanosomiasis	Myocarditis, Urinary incontinence, Iritis, Myelitis, Optic neuritis, Pericarditis, Conjunctivitis...	ORPHA:3385
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Short stature, Renal hypoplasia, Obesity, Failure to thrive, ...	OMIM:617157
Costello Syndrome	Short stature, Failure to thrive, Achilles tendon contracture, Renal insufficiency	OMIM:218040
Blau Syndrome	Skin rash, Posterior uveitis, Synovitis, Camptodactyly of finger, Clear cell renal cell carcinoma...	ORPHA:90340
Floating-Harbor Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal agenesis, Short stature, Growth delay...	ORPHA:2044
Microphthalmia, Syndromic 2	Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmental cataract,...	OMIM:300166
Partial Androgen Insensitivity Syndrome	Male sexual dysfunction, Primary amenorrhea, Male infertility, Azoospermia	ORPHA:90797
Hereditary Sensory And Autonomic Neuropathy Type 4	Corneal scarring, Growth delay, Recurrent aspiration pneumonia, Chronic kidney disease, Septic ar...	ORPHA:642
Holoprosencephaly 2	Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Remnants of the hyaloid vascular system	OMIM:603671
Aromatase Deficiency	Primary amenorrhea, Female infertility, Male infertility, Hypergonadotropic hypogonadism	ORPHA:91
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Hyperlipidemia, Recurrent cystitis, Recurrent sinusit...	ORPHA:64

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

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X-ray

Human diseases caused by Xdh mutations

Histopathology

IMPC related publications

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