Gene: Bbs10 MGI:1919019

Log in to follow

Gene Summary

Name:
Bardet-Biedl syndrome 10 (human)
Synonyms:
1300007O09Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Bbs10tm1.1(KOMP)Vlcg HOM   Early adult 0.00
increased circulating sodium level Bbs10tm1.1(KOMP)Vlcg HET Early adult 2.19×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Aorta  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote Not available
Pancreas  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Forepaw

10 Images

Adult LacZ

LacZ Images Section

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Sleep Wake

Wake state (bmp file)

15 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Bbs10 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.

The table below shows human diseases associated to Bbs10 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Bbs10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Retinal dystrophy, Renal cyst, Renal insufficiency, Hypogonadism, Rod-... OMIM:615987
Bardet-Biedl Syndrome 6
Retinal dystrophy, Renal cyst, Hypospadias, Diabetes mellitus, Rod-cone dystrophy, Obesity OMIM:605231
Bardet-Biedl Syndrome 16
Abnormality of the kidney, Renal agenesis, Retinal degeneration, Renal dysplasia, Renal cyst, Ren... OMIM:615993
Bardet-Biedl Syndrome 11
Hypogonadism, Retinopathy, Abnormality of the kidney, Obesity OMIM:615988
Bardet-Biedl Syndrome 18
Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy, Obesity OMIM:615995
Bardet-Biedl Syndrome 9
Polyphagia, Attenuation of retinal blood vessels, Polydipsia, Retinal degeneration, Truncal obesi... OMIM:615986
Bardet-Biedl Syndrome 12
Hypogonadism, Abnormality of the kidney, Rod-cone dystrophy, Obesity OMIM:615989
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity, Micropenis, Retinal dystrophy OMIM:610156
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Bardet-Biedl Syndrome 5
Obesity, Hypogonadism, Micropenis, Rod-cone dystrophy, Macular dystrophy OMIM:615983
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615990
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Retinal degeneration, Renal cyst, Hypogonadism, Rod-cone dystrophy, Ob... OMIM:615982
Bardet-Biedl Syndrome 14
Rod-cone dystrophy, Obesity OMIM:615991
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Abnormal eating behavior, Hypogonadism, Micropenis, Obesity OMIM:614962
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia, Rod-cone dystrophy OMIM:266900
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Moderate albuminuria, Ketonuria, Weight loss, Glycosuria, Abnormality ... ORPHA:99885
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Type I diabetes mellitus, Hydronephrosis, Retinopathy, Precocious puberty, ... OMIM:619269
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration, Delayed puberty, Small for gestational age, Hypopla... OMIM:275400
Bardet-Biedl Syndrome 22
Hypogonadism, Rod-cone dystrophy, Obesity OMIM:617119
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia, Rod-cone dystrophy OMIM:606996
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Polyphagia, Postural hypotension with compensatory tachyca... ORPHA:369873
Bardet-Biedl Syndrome 7
Rod-cone dystrophy, Obesity OMIM:615984
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... ORPHA:71526
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance, Optic atrophy OMIM:614296
Bardet-Biedl Syndrome 19
Renal insufficiency, Hypogonadism, Rod-cone dystrophy, Obesity OMIM:615996
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity ORPHA:71529
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Nephronophthisis 15
Nephronophthisis, Retinal degeneration, Obesity OMIM:614845
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Proximal tubulopathy, Polyuria, Type I diabetes mellitus, Failure to thri... OMIM:560000
Type 1 Diabetes Mellitus
Polyphagia, Polyuria, Diabetes mellitus, Hyperglycemia, Polydipsia OMIM:222100
Bardet-Biedl Syndrome 17
Retinal degeneration, Cone/cone-rod dystrophy, Renal cyst, Stage 5 chronic kidney disease, Hypogo... OMIM:615994
Cone-Rod Dystrophy 7
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy OMIM:603649
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Bardet-Biedl Syndrome 21
Retinal atrophy, Overweight, Horseshoe kidney, Retinal thinning, Cone/cone-rod dystrophy, Hyperau... OMIM:617406
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Urinary bladder sphincter dysfunction, Dysphagi... OMIM:604360
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy, Retinal degeneration OMIM:257970
Bardet-Biedl Syndrome 2
Retinal degeneration, Hypogonadism, Diabetes mellitus, Rod-cone dystrophy, Obesity OMIM:615981
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia, Obesity ORPHA:329249
Macular Dystrophy, Retinal, 1, North Carolina Type
Generalized aminoaciduria, Peripheral retinal atrophy, Abnormality of macular pigmentation, Druse... OMIM:136550
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pol... ORPHA:276575
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Stargardt Disease 3
Macular atrophy, Macular flecks, Macular dystrophy OMIM:600110
Hypotonia-Cystinuria Syndrome
Polyphagia, Nephrolithiasis, Failure to thrive, Cystinuria ORPHA:163690
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Polyphagia, Hypergonadotropic hypogonadism, Cystinuria, Facial palsy, Fail... OMIM:606407
Macular Dystrophy, Vitelliform, 2
Subretinal fluid, Cystoid macular degeneration, Macular dystrophy OMIM:153700
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Polyphagia, Obesity OMIM:248100
Ceroid Lipofuscinosis, Neuronal, 6
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Gonadotropin deficiency, Adrenal hypoplasia, Polyphagia, Obesity, Adrenal ... OMIM:609734
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hyperinsulinemia, Abnormal retinal vascular morphology, Type... ORPHA:791
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Enlarged kidney, Proteinuria, Abnormal retinal morphology on macular OCT, Brain atrop... ORPHA:251004
Senior-Loken Syndrome 9
Nephronophthisis, Retinal dystrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease... OMIM:616629
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyperp... ORPHA:276556
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, P... ORPHA:66628
Mody
Abnormal oral glucose tolerance, Abnormality of the kidney, Hyperinsulinemic hypoglycemia, Overwe... ORPHA:552
Leptin Receptor Deficiency
Polyphagia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesity, Abnormal eating be... OMIM:614963
Ceroid Lipofuscinosis, Neuronal, 2
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Increased extraneuronal autoflu... OMIM:204500
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, P... ORPHA:179494
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Senior-Loken Syndrome 7
Nephronophthisis, Retinal degeneration OMIM:613615
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Polyuria, Hypercalciuria, Failure to thrive, Medullary nephrocalcinosis,... OMIM:616963
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Hypogonadism, Diabetes mellitus, Moderate albuminuria, Optic atrophy OMIM:614231
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Temple Syndrome
Polyphagia, Decreased response to growth hormone stimuation test, Small for gestational age, Type... ORPHA:254516
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Peripapillary atrophy,... OMIM:616188
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:614322
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:609923
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Bardet-Biedl Syndrome 8
Renal dysplasia, Hypospadias, Hypogonadism, Rod-cone dystrophy, Obesity OMIM:615985
Nephronophthisis 11
Nephronophthisis, Polyuria, Retinal degeneration, Renal tubular atrophy, Renal corticomedullary c... OMIM:613550
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Renal Glucosuria
Polyphagia, Polyuria, Glycosuria, Enuresis nocturna, Polydipsia OMIM:233100
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Drusen, Rod-cone dystrophy, Optic disc pallor, Obesity OMIM:616394
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Micropenis, Hypoplasia of penis, Obesity ORPHA:85274
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Retinal degeneration, Cerebellar atrophy, Failure to thrive, Optic atrophy, Nephrol... OMIM:618329
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration OMIM:609021
Maternally-Inherited Diabetes And Deafness
Abnormal chorioretinal morphology, Proteinuria, Glomerulopathy, Type II diabetes mellitus, Renal ... ORPHA:225
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Neoplasm of the adrenal gland, Pitui... ORPHA:97279
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Hypercalcemia, Infantile, 1
Polyuria, Weight loss, Hypercalciuria, Failure to thrive, Nephrocalcinosis, Nephrolithiasis OMIM:143880
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Galactosemia I
Albuminuria, Hypergonadotropic hypogonadism, Aminoaciduria, Increased level of galactitol in urin... OMIM:230400
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Renal salt wasting, Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, ... OMIM:613845
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration, Cerebral atrophy OMIM:616211
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Optic atr... OMIM:256730
Distal 16P11.2 Microdeletion Syndrome
Abnormality of the kidney, Proteinuria, Aganglionic megacolon, Retinal dystrophy, Vesicoureteral ... ORPHA:261222
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Obesity ORPHA:177910
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration OMIM:520000
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Cystinosis, Nephropathic
Male hypogonadism, Retinal pigment epithelial mottling, Failure to thrive in infancy, Delayed pub... OMIM:219800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Glucose intolerance, Impaired glucose tolerance, Retinal degeneration, Chronic ... OMIM:615630
Bartter Syndrome, Type 3
Hypocalciuria, Renal potassium wasting, Hyperactive renin-angiotensin system, Polyuria, Hyperaldo... OMIM:607364
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Retinal degeneration OMIM:614844
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitus, Failure to thrive, ... ORPHA:181393
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration, Decreased response to growth hormone stimuation test OMIM:225755
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Cone-Rod Dystrophy 11
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular degeneration OMIM:610381
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Polyphagia, Premature pubarche, Premature adrenarche, Central hypothyroidism, ... ORPHA:398079
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Bardet-Biedl Syndrome 3
Renal hypoplasia, Rod-cone dystrophy, Pigmentary retinopathy, Obesity OMIM:600151
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hyperinsulinemia, Hypergonadotropic hypogonadism, Cerebellar... ORPHA:3085
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia OMIM:304800
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Obesity OMIM:614947
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy, Diabetes mellitus OMIM:249270
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Cone dystrophy OMIM:600977
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Cerebral atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopig... OMIM:610127
Chromosome Xq21 Deletion Syndrome
Chorioretinal degeneration, Chorioretinal atrophy, Choroideremia, Obesity OMIM:303110
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
C3 Glomerulopathy
Central serous chorioretinopathy, Hematuria, Acute kidney injury, Yellow/white lesions of the ret... ORPHA:329918
Schaaf-Yang Syndrome
Polyphagia, Failure to thrive in infancy, Hypogonadism, Micropenis, Obesity OMIM:615547
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Cerebral atrophy, Retinal dystrophy, Obesity OMIM:616756
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Polydipsia, Polyuria, Recurrent urinary tract i... OMIM:248250
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Rod-cone dystrophy, Obesity OMIM:615633
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Retinopathy, Pigmentary, And Mental Retardation
Truncal obesity, Hypogonadism, Pigmentary retinopathy OMIM:268050
Mucolipidosis Iv
Cerebellar atrophy, Optic atrophy, Hypergastrinemia, Retinal degeneration OMIM:252650
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Retinitis Pigmentosa 38
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:613862
Frontotemporal Dementia
Polyphagia, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system OMIM:600274
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Peroxisome Biogenesis Disorder 1A (Zellweger)
Adrenal hypoplasia, Albuminuria, Pigmentary retinopathy, Patent ductus arteriosus, Aminoaciduria,... OMIM:214100
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimuation test, Hypoglycemia, Delayed pu... OMIM:300148
6Q16 Microdeletion Syndrome
Polyphagia, Obesity ORPHA:171829
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:256731
Papillorenal Syndrome
Horseshoe kidney, Renal malrotation, Retinal coloboma, Renal hypoplasia, Chorioretinal atrophy, M... OMIM:120330
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Hypogonadism, Rod-cone dystrophy, Obesity ORPHA:363741
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Isolated Growth Hormone Deficiency, Type V
Abdominal obesity, Truncal obesity, Decreased response to growth hormone stimuation test OMIM:618160
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Hypogonadism, Rod-cone dystrophy, Obesity OMIM:601794
Carcinoma Of Esophagus
Dysphagia, Weight loss, Obesity ORPHA:70482
Cednik Syndrome
Nephrotic syndrome, Abnormality of peripheral nerve conduction, Hypogonadism, Optic atrophy, Prot... ORPHA:66631
Wolfram-Like Syndrome
Male hypogonadism, Glucose intolerance, Hypothyroidism, Delayed puberty, Optic atrophy, Diabetes ... ORPHA:411590
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Hsd10 Disease, Infantile Type
Dysphagia, Cerebral atrophy, Neurodegeneration, Hypoglycemia, Retinal degeneration, Frontotempora... ORPHA:391428
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity ORPHA:411515
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Peripapillary atrophy, Abnormal flash visual evoked potentials, Optic disc ... OMIM:618195
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Polyuria, Aminoaciduria, Hypercalciuria, Primary hyperparathyroidism, Failure ... OMIM:239200
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Cerebral atrophy, Retinal dystrophy, Urinary incontinence, Obesity ORPHA:464282
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Increased urinary potassium, Hyperaldoster... OMIM:602522
Huntington Disease
Choking episodes, Decreased body mass index, Polyphagia, Cerebral atrophy, Weight loss, Oral-phar... ORPHA:399
Cystinosis
Nephrogenic diabetes insipidus, Hypothyroidism, Aminoaciduria, Nephropathy, Delayed puberty, Type... ORPHA:213
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Polyphagia, Premature pubarche, Central hypothyroidism, Hypothalamic luteinizi... ORPHA:398069
Ceroid Lipofuscinosis, Neuronal, 3
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Increased neuronal autoflu... OMIM:204200
Craniopharyngioma
Polyphagia, Enlarged pituitary gland, Papilledema, Pituitary hypothyroidism, Central adrenal insu... ORPHA:54595
Mehmo Syndrome
Diabetes mellitus, Micropenis, Hypoplasia of penis, Obesity ORPHA:85282
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Diabetes Insipidus, Neurohypophyseal Type
Polydipsia, Central diabetes insipidus, Polyuria, Hydronephrosis OMIM:304900
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Patent ductus arteriosus, Absent foveal reflex, Retinal dystrophy OMIM:615147
Narcolepsy Type 1
Obesity ORPHA:2073
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macular ... OMIM:608161
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Weight loss OMIM:275000
Hyperostosis Frontalis Interna
Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Hyperaldosteronism, Increased circula... OMIM:612780
Microphthalmia, Isolated 5
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... OMIM:611040
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Laurence-Moon Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Renal insufficiency, Displacement of the urethral... ORPHA:2377
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Obesity ORPHA:3055
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Diabetes mellitus, Prote... OMIM:608709
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Optic atrophy, Hypoglycemia, Retinal degeneration OMIM:300438
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Drusen, Macular degeneration, Choroidal neovascularization, Decreased nerve conduction velocity OMIM:608895
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Preeclampsia
Acute kidney injury, Type I diabetes mellitus, Small for gestational age, Chronic kidney disease,... ORPHA:275555
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Increased urinary potassium, Hyperaldosteronism, Decreased glomerular f... OMIM:613090
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Occipital cortical atrophy, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circu... ORPHA:98754
Mental Retardation With Language Impairment And With Or Without Autistic Features
Enuresis, Failure to thrive in infancy, Obesity OMIM:613670
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-glutamic acid in ... ORPHA:3008
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Occipital cortical atrophy, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circu... ORPHA:98793
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Occipital cortical atrophy, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circu... ORPHA:177904
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Dysphagia, Nephropathy, Glomerulopathy, Cerebellar atrophy, N... OMIM:254900
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Occipital cortical atrophy, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circu... ORPHA:177901
Bardet-Biedl Syndrome
Pigmentary retinopathy, Multicystic kidney dysplasia, Nephrotic syndrome, Hypogonadism, Hypoplasi... ORPHA:110
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity OMIM:614662
Gitelman Syndrome
Hypocalciuria, Nocturia, Renal potassium wasting, Polyuria, Enuresis, Increased circulating renin... OMIM:263800
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Weight loss, Type II diabetes mellitus, Insulin resistance, Abnorm... ORPHA:2298
Al Amyloidosis
Albuminuria, Postural hypotension with compensatory tachycardia, Autonomic erectile dysfunction, ... ORPHA:85443
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Spastic Paraplegia 15, Autosomal Recessive
Urinary bladder sphincter dysfunction, Retinal degeneration, Urinary incontinence, Urinary urgenc... OMIM:270700
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Spinocerebellar Ataxia 7
Dysphagia, Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Biemond Syndrome Type 2
Delayed puberty, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Obesity ORPHA:141333
Bardet-Biedl Syndrome 1
Abnormality of the kidney, Nephrogenic diabetes insipidus, Aganglionic megacolon, Retinal degener... OMIM:209900
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Cerebral cortical atrophy, Congenital hypothyroidism, Congenital stationary night blindness, Obesity ORPHA:352530
Anti-Glomerular Basement Membrane Disease
Hematuria, Glomerulopathy, Retinal detachment, Renal insufficiency, Proteinuria ORPHA:375
Xfe Progeroid Syndrome
Renal insufficiency, Optic atrophy, Cachexia, Proteinuria OMIM:610965
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Prader-Willi-Like Syndrome
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... ORPHA:398073
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:300942
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Type II diabetes mellitus, Obesity OMIM:615703
Trisomy 5P
Renal hypoplasia/aplasia, Hypoplasia of penis, Obesity ORPHA:1742
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, R... ORPHA:730
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Rafiq Syndrome
Obesity OMIM:614202
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cerebral atrophy, Cerebellar atrophy, Optic atrophy, Retinopathy, Optic disc pallor OMIM:616171
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Polyuria, Hyperaldosteronism, Hypercalciuria, Decreased circulating renin level, Adre... OMIM:613677
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Pick Disease Of Brain
Polyphagia, Neuronal loss in central nervous system OMIM:172700
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Pigmentary retinopathy, Absence of secondary sex characteristics, Obesity, Hy... ORPHA:2235
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypoplasia of penis, Hypogonadism, E... ORPHA:2234
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Macular edema, Rod-c... OMIM:613750
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Achromatopsia 7
Macular atrophy, Hypoplasia of the fovea, Absent foveal reflex OMIM:616517
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Diabetes mellitus, Micropenis, Obesity OMIM:610628
Refsum Disease, Classic
Abnormal renal physiology, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Micropenis, Obesity OMIM:301900
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Immunodeficiency 61
Obesity OMIM:300310
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Low urinary cyclic AMP response to PTH administration, Elevated circula... OMIM:603233
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Truncal obesity, Failure to thrive, Diabetes mellitus, Nephroli... ORPHA:189427
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Alport Syndrome
Hematuria, IgA deposition in the glomerulus, Renal insufficiency, Renal glomerular foam cells, Re... ORPHA:63
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Hyposthenuria, Low-molecular-weight proteinuria, Focal segmental glomeruloscler... OMIM:308990
Prader-Willi Syndrome
Hyperinsulinemia, Polyphagia, Failure to thrive in infancy, Obesity, Adrenal insufficiency, Delay... OMIM:176270
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Obesity OMIM:614651
Angelman Syndrome
Polyphagia, Delayed menarche, Dysphagia, Cerebral cortical atrophy, Precocious puberty in females... ORPHA:72
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria OMIM:161900
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Polyphagia... ORPHA:525731
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease, Retinal degeneration OMIM:613819
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Nephrocalcinosis, Hyperphosphaturia, Aminoaciduria, Hypoglycemia, Glycosuria, Diabetes mellitus, ... OMIM:616026
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney diseas... OMIM:606995
Baralle-Macken Syndrome
Urinary incontinence, Global brain atrophy, Obesity OMIM:619255
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Hyperphosphaturia, Aminoaciduria, Glycosuria, Failure to thrive, Renal Fa... OMIM:220110
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Dysuria, Hematuria, Acute kidney injury, Abnormal penis morphology, Renal tubular epithelial necr... ORPHA:95455
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... OMIM:614131
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimuation test, Decreased body weight, Cere... OMIM:618347
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy OMIM:613660
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Hyperphosphaturia, Aminoaciduria, Glycosuria, Failure to thrive, Renal Fa... ORPHA:436271
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Septo-optic dysplasia, ... ORPHA:3157
Central Precocious Puberty
Increased circulating gonadotropin level, Overgrowth, Isosexual precocious puberty, Increased bod... ORPHA:759
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Hypogonadism, Failure to thrive ORPHA:261483
Secondary Short Bowel Syndrome
Polyphagia, Central hypothyroidism, Aganglionic megacolon, Weight loss, Failure to thrive, Primar... ORPHA:95427
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Iga Nephropathy, Susceptibility To, 2
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria OMIM:613944
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Renal magnesium wasting OMIM:618314
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning OMIM:270200
Bartter Syndrome, Type 1, Antenatal
Hyposthenuria, Renal potassium wasting, Hyperactive renin-angiotensin system, Polyuria, Hyperaldo... OMIM:601678
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Glomerulopathy With Fibronectin Deposits 2
Generalized distal tubular acidosis, Glomerulopathy, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Dysphagia, Cerebral atrophy, Retinal degeneration, Cerebellar atrophy, Op... ORPHA:79264
Chops Syndrome
Horseshoe kidney, Patent ductus arteriosus, Vesicoureteral reflux, Optic atrophy, Obesity OMIM:616368
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Oguchi Disease
Rod-cone dystrophy, Macular degeneration, Mizuo phenomenon, Congenital stationary night blindness ORPHA:75382
Aceruloplasminemia
Diabetes mellitus, Retinal degeneration OMIM:604290
Alstrom Syndrome
Renal insufficiency, Hyperinsulinemia, Multinodular goiter, Pigmentary retinopathy, Hypergonadotr... OMIM:203800
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Abcd Syndrome
Hypopigmentation of the fundus, Large for gestational age, Aganglionic megacolon, Abnormal audito... OMIM:600501
Werner Syndrome
Hypogonadism, Diabetes mellitus, Retinal degeneration OMIM:277700
Bartter Syndrome, Type 2, Antenatal
Hyposthenuria, Polydipsia, Renal potassium wasting, Hyperactive renin-angiotensin system, Polyuri... OMIM:241200
Oligomeganephronia
Decreased numbers of nephrons, Optic disc coloboma, Unilateral renal agenesis, Abnormality of med... ORPHA:2260
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Iga Nephropathy, Susceptibility To, 3
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... OMIM:616818
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Glomerulonephritis, Microscopic he... ORPHA:567544
Retinitis Pigmentosa 9
Macular atrophy, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180104
Hyperphosphatemia, Polyuria, And Seizures
Polyuria OMIM:239350
7Q11.23 Microduplication Syndrome
Polyphagia, Unilateral renal agenesis, Enuresis, Patent ductus arteriosus, Hydronephrosis, Abnorm... ORPHA:96121
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Orthostatic hypotension, Frontal cortical atrophy, Dysphagia, Atrophy of the spinal c... ORPHA:2822
Summitt Syndrome
Obesity OMIM:272350
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Retinal degeneration, Abnormality of pattern visual evoked potentials, Cerebral... ORPHA:166035
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Hydroxyprolinuria, Retinal degeneration, Angioid streaks of the fundus, Retinopathy OMIM:239000
Prader-Willi Syndrome
Polyphagia, Premature pubarche, Premature adrenarche, Central hypothyroidism, Small pituitary gla... ORPHA:739
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Joubert Syndrome 6
Chorioretinal coloboma, Nephronophthisis, Retinal degeneration, Stage 5 chronic kidney disease OMIM:610688
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Abnormality of the anterior pi... ORPHA:449395
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Liddle Syndrome 3
Hypokalemia OMIM:618126
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal detachment, Retinal dystrophy OMIM:212550
Leber Congenital Amaurosis 4
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels OMIM:604393
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... ORPHA:263455
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:615573
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
2Q23.1 Microdeletion Syndrome
Polyphagia, Hypoplasia of penis ORPHA:228402
Idiopathic Intracranial Hypertension
Papilledema, Obesity ORPHA:238624
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Renal hypoplasia, Cerebral atrophy, Patent ductus arteriosus, Hypospadias, Microp... ORPHA:171839
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Cerebral cortical atrophy, Type I diabetes mellitus, Nephrotic syndrome, Proteinuria ORPHA:1192
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Extraadrenal pheochromocytoma, Elevated urinary norepinephr... ORPHA:276621
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Helix Syndrome
Hyperparathyroidism, Hypocalciuria, Polyuria, Renal insufficiency, Polydipsia, Nephrolithiasis OMIM:617671
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Luscan-Lumish Syndrome
Overgrowth, Polyphagia, Obesity OMIM:616831
Pseudohypoparathyroidism Type 1C
Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Low urinary cyclic AMP resp... ORPHA:79444
Temple Syndrome
Truncal obesity, Maturity-onset diabetes of the young, Overweight, Small for gestational age OMIM:616222
Poretti-Boltshauser Syndrome
Retinal atrophy, Retinal thinning, Retinal dystrophy OMIM:615960
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617006
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Retinal degeneration, Brain atrophy, Failure to thrive, Optic atrophy ORPHA:442835
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyperkalemia ORPHA:682
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glomerular viscera... ORPHA:567548
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Cubitus Valgus With Mental Retardation And Unusual Facies
Truncal obesity OMIM:300471
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Cerebral atrophy, Retinal degeneration, Br... OMIM:619260
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Pigmentary retinopat... ORPHA:71212
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Enuresis, Overgrowth, Renal insufficiency, Nephro... OMIM:204690
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:600995
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Hypothyroidism, Retinal degeneration, Renal dysplasia, Hypospadias, Renal insufficiency,... ORPHA:96179
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy OMIM:616502
Sjögren-Larsson Syndrome
Macular degeneration, Abnormality of retinal pigmentation, Retinopathy ORPHA:816
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Simpson-Golabi-Behmel Syndrome, Type 2
Multicystic kidney dysplasia, Micropenis, Obesity OMIM:300209
Nephrotic Syndrome, Type 1
Hypothyroidism, Glomerular sclerosis, Renal tubular atrophy, Small for gestational age, Renal ins... OMIM:256300
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Congenital hypothyroidism, Diabetes mellitus, Obesity OMIM:614613
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Insulin resistance, Abdominal obesity OMIM:615980
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine, Hematuria, Extraadrenal pheochromocytoma, Retinal capillary hemangioma... ORPHA:29072
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy, Corpus callosum atrophy, Hypothyroidism, Dysphagia, Parietal cortical atrophy, C... ORPHA:412057
Acquired Partial Lipodystrophy
Microscopic hematuria, Glomerulopathy, Proteinuria, Insulin resistance ORPHA:79087
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Retinitis Pigmentosa 84
Macular atrophy, Rod-cone dystrophy, Macular coloboma OMIM:618220
Cebalid Syndrome
Polyphagia OMIM:618774
Trisomy 18P
Facial palsy, Polyphagia ORPHA:1715
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Delayed puberty, Failure to thrive, Abnormality of the kidney, Proteinuria ORPHA:369
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Protein... OMIM:618349
Scheie Syndrome
Retinal degeneration OMIM:607016
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter, Obesity ORPHA:1035
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polyphagia, Premature adrenarche, Polydipsia, Central hypothyroidism, Decreased response to growt... ORPHA:293987
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Tall stature, Insulin-resistant diabetes me... OMIM:608594
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Cerebral atrophy, Cerebellar atrophy, Stage 5 chronic kidney disease, Nephr... OMIM:301006
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Retinal dystrophy, Stage 5 chronic kidney d... OMIM:614377
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Cyst