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Gene: Bbs10 MGI:1919019

Gene Summary

Name:

Bardet-Biedl syndrome 10 (human)

Synonyms:

1300007O09Rik

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	System	Allele	Zyg	Sex	Life Stage	P Value
increased circulating sodium level		Bbs10^{tm1.1(KOMP)Vlcg}	HET		Early adult	3.61×10^-06
preweaning lethality, complete penetrance		Bbs10^{tm1.1(KOMP)Vlcg}	HOM		Early adult	0.00

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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	0.67% (4 of 598)
aorta	0.17% (1 of 598)
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
epididymis	14.29% (21 of 147)
esophagus	1.66% (7 of 422)
eye	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
midbrain	0.0%
olfactory lobe	0.33% (2 of 598)
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
submandibular gland	1.38% (2 of 145)
testis	1% (6 of 598)
thalamus	0.0%
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
urinary bladder	0.0%
uterus	0.33% (2 of 598)
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 Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Sleep Wake

Wake state (bmp file)

15 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Eye Morphology

Images Slit Lamp

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Section

19 Images

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X-ray

XRay Images Forepaw

10 Images

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Electroretinography 2

Rod and cone PDF

4 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

View 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.

Human diseases associated with Bbs10 (2 diseases)
Human diseases predicted to be associated with Bbs10 (1128 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Bardet-Biedl Syndrome 10		Rod-cone dystrophy, Hypogonadism, Retinal dystrophy, Renal cyst, Renal insufficiency, Obesity	OMIM:615987
Bardet-Biedl Syndrome		Multicystic kidney dysplasia, Hypogonadism, Nephrotic syndrome, Hypoplasia of penis, Hypoplasia o...	ORPHA:110

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

Disease	Matching phenotypes	Source
Bardet-Biedl Syndrome 10	Rod-cone dystrophy, Hypogonadism, Retinal dystrophy, Renal cyst, Renal insufficiency, Obesity	OMIM:615987
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Stage 5 chronic kidney disease, Retinal dystrophy, Renal insufficiency, Obesity	OMIM:615995
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Hypogonadism, Renal dysplasia, Stage 5 chronic kidney disease, Retinal degene...	OMIM:615993
Bardet-Biedl Syndrome 14	Rod-cone dystrophy, Renal insufficiency, Obesity	OMIM:615991
Bardet-Biedl Syndrome 11	Retinopathy, Abnormality of the kidney, Obesity, Hypogonadism	OMIM:615988
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Bardet-Biedl Syndrome 22	Rod-cone dystrophy, Hypogonadism, Large for gestational age, Macular hypopigmentation, Polyphagia...	OMIM:617119
Bardet-Biedl Syndrome 9	Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:615986
Hyperchlorhidrosis, Isolated	Hyperkalemia, Hyponatremia	OMIM:143860
Bardet-Biedl Syndrome 13	Rod-cone dystrophy, Obesity, Bone spicule pigmentation of the retina, Attenuation of retinal bloo...	OMIM:615990
Bardet-Biedl Syndrome 5	Rod-cone dystrophy, Hypogonadism, Micropenis, Obesity, Macular dystrophy	OMIM:615983
Bardet-Biedl Syndrome 4	Rod-cone dystrophy, Hypogonadism, Abnormality of the kidney, Retinal degeneration, Renal cyst, Ob...	OMIM:615982
Bardet-Biedl Syndrome 17	Rod-cone dystrophy, Hypogonadism, Cone/cone-rod dystrophy, Stage 5 chronic kidney disease, Retina...	OMIM:615994
Hyperleucine-Isoleucinemia	Failure to thrive, Retinal degeneration	OMIM:238340
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Retinopathy, Moderate albuminuria, Type I diabetes mellitus, Obesity, Hydrone...	OMIM:619269
Morm Syndrome	Hyperactivity, Retinal atrophy, Abnormality of the kidney, Retinal dystrophy, Truncal obesity, Mi...	ORPHA:75858
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased serum leptin, Polyphagia, Obesity, Micropenis	OMIM:614962
Senior-Loken Syndrome 4	Rod-cone dystrophy, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis, Polydipsia	OMIM:606996
Isolated Permanent Neonatal Diabetes Mellitus	Reduced pancreatic beta cells, Neonatal insulin-dependent diabetes mellitus, Retinopathy, Weight ...	ORPHA:99885
Hyperinsulinism Due To Hnf1A Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Mate...	ORPHA:324575
Nephronophthisis 15	Nephronophthisis, Retinal degeneration, Obesity	OMIM:614845
Oliver-Mcfarlane Syndrome	Decreased response to growth hormone stimulation test, Small for gestational age, Retinal degener...	OMIM:275400
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Abnormal autonomic nervous system physiology, Polyphagia, Attention deficit hyp...	ORPHA:369873
Obesity Due To Prohormone Convertase I Deficiency	Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati...	ORPHA:71526
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Childhood-onset truncal obesity, Type II diabetes mellitus, Polyphagia, Obesity	ORPHA:71529
Macular Degeneration, Age-Related, 13	Macular scar, Macular degeneration, Choroidal neovascularization, Drusen	OMIM:615439
Stargardt Disease 1	Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy	OMIM:248200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Maternal diabetes, Type I diabetes mellitus, Hyperins...	ORPHA:276580
Type 1 Diabetes Mellitus	Diabetes mellitus, Polyuria, Polyphagia, Hyperglycemia, Polydipsia	OMIM:222100
Cone-Rod Dystrophy 7	Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy	OMIM:603649
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive, Polyuria, Pigmentary retinopathy	OMIM:560000
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Reticular pigmentary degeneration, Retinal dystrophy, Drusen	OMIM:267800
Bardet-Biedl Syndrome 2	Rod-cone dystrophy, Hypogonadism, Retinal degeneration, Diabetes mellitus, Obesity	OMIM:615981
Bardet-Biedl Syndrome 21	Rod-cone dystrophy, Cone/cone-rod dystrophy, Retinal thinning, Retinal atrophy, Hyperautofluoresc...	OMIM:617406
Macular Dystrophy, Retinal, 1, North Carolina Type	Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation	OMIM:136550
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo...	OMIM:608051
Hypercalcemia, Infantile, 1	Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Nephrocalcinosis, Decreased...	OMIM:143880
Retinitis Pigmentosa 36	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610599
Spastic Paraplegia 11, Autosomal Recessive	Urinary incontinence, Cerebral cortical atrophy, Urinary bladder sphincter dysfunction, Urinary u...	OMIM:604360
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity, Polyphagia, Tall stature	OMIM:618406
Macular Dystrophy, Patterned, 3	Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy	OMIM:617111
Bardet-Biedl Syndrome 19	Patent ductus arteriosus, Rod-cone dystrophy, Hypogonadism, Renal hypoplasia, Renal insufficiency...	OMIM:615996
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemic hypoglycem...	ORPHA:276575
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight, Maturity-onset diabetes of the young	OMIM:613375
Oculorenocerebellar Syndrome	Retinal degeneration, Nephropathy, Glomerular sclerosis	OMIM:257970
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,...	ORPHA:59181
Late-Onset Retinal Degeneration	Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ...	OMIM:605670
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Hypogonadism, Optic atrophy, Moderate albuminuria, Diabetes mellitus, Obesity	OMIM:614231
Leber Congenital Amaurosis 19	Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels	OMIM:618513
Retinoschisis 1, X-Linked, Juvenile	Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M...	OMIM:312700
Stargardt Disease 3	Macular flecks, Macular atrophy, Macular dystrophy	OMIM:600110
Liberfarb Syndrome	Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen...	OMIM:618889
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia, Obesity, Polyphagia	ORPHA:329249
Hypotonia-Cystinuria Syndrome	Failure to thrive, Nephrolithiasis, Cystinuria, Polyphagia	ORPHA:163690
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	ORPHA:171706
Macular Dystrophy, Vitelliform, 2	Cystoid macular degeneration, Macular dystrophy, Subretinal fluid	OMIM:153700
Macrosomia Adiposa Congenita	Obesity, Polyphagia, Large for gestational age, Adrenocortical adenoma	OMIM:248100
Obesity Due To Congenital Leptin Deficiency	Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol...	ORPHA:66628
Hyperinsulinism Due To Ucp2 Deficiency	Hypoketotic hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Diffuse pancr...	ORPHA:276556
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration, Increased neuronal autofluorescent lipopigment	OMIM:601780
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Mody	Transient neonatal diabetes mellitus, Retinopathy, Diabetic ketoacidosis, Glycosuria, Abnormality...	ORPHA:552
Retinal Dystrophy And Obesity	Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten...	OMIM:616188
Retinitis Pigmentosa	Hyperinsulinemia, Hypogonadism, Optic atrophy, Type II diabetes mellitus, Hypoplasia of penis, Ab...	ORPHA:791
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Decreased response to growth hormone stimulation test, Cystinuria, Neonatal...	OMIM:606407
Paternal Uniparental Disomy Of Chromosome 1	Abnormal retinal morphology on macular OCT, Brain atrophy, Enlarged kidney, Membranoproliferative...	ORPHA:251004
Obesity Due To Leptin Receptor Gene Deficiency	Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol...	ORPHA:179494
Stargardt Disease 4	Retinal flecks, Macular degeneration	OMIM:603786
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Retinal dystrophy, Childhood-onset truncal obesity, Micropenis, Truncal obesity	OMIM:610156
Bothnia Retinal Dystrophy	Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ...	ORPHA:85128
Bardet-Biedl Syndrome 6	Rod-cone dystrophy, Renal cyst, Diabetes mellitus, Hypospadias, Obesity, Pigmentary retinopathy	OMIM:605231
Ceroid Lipofuscinosis, Neuronal, 2	Increased neuronal autofluorescent lipopigment, Retinal degeneration, Increased extraneuronal aut...	OMIM:204500
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Macular drusen	OMIM:608850
Senior-Loken Syndrome 7	Nephronophthisis, Retinal degeneration	OMIM:613615
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Rod-cone dystrophy, Hypogonadism, Stage 5 chronic kidney disease, R...	OMIM:616629
Retinitis Pigmentosa 31	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:609923
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Bardet-Biedl Syndrome 8	Rod-cone dystrophy, Hypogonadism, Renal dysplasia, Hypospadias, Obesity	OMIM:615985
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Nephrocalcinosi...	OMIM:616963
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Temple Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ...	ORPHA:254516
Nephronophthisis 11	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Retinal dege...	OMIM:613550
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Polyph...	OMIM:614963
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
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment	OMIM:617572
Renal Glucosuria	Enuresis nocturna, Glycosuria, Polyuria, Polyphagia, Polydipsia	OMIM:233100
Retinal Cone Dystrophy 1	Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy	OMIM:180020
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Body Mass Index Quantitative Trait Locus 19	Hyperinsulinemia, Increased serum leptin, Insulin resistance, Polyphagia, Obesity	OMIM:617885
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Retinal degeneration, Optic atrophy	OMIM:614322
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620126
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b...	OMIM:619531
Retinitis Pigmentosa Inversa With Deafness	Retinitis pigmentosa inversa, Rod-cone dystrophy	OMIM:268010
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620125
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity	ORPHA:140941
Retinitis Pigmentosa 32	Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:609913
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic...	ORPHA:54370
Syndromic X-Linked Intellectual Disability 7	Obesity, Hypoplasia of penis, Micropenis, Hypogonadism	ORPHA:85274
Retinopathy, Pericentral Pigmentary, Dominant	Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua...	OMIM:180210
Distal 16P11.2 Microdeletion Syndrome	Vesicoureteral reflux, Rod-cone dystrophy, Abnormality of the kidney, Retinal dystrophy, Renal ag...	ORPHA:261222
Ceroid Lipofuscinosis, Neuronal, 3	Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Increased extraneu...	OMIM:204200
Laurence-Moon Syndrome	Chorioretinal atrophy, Obesity, Pigmentary retinopathy, Micropenis	OMIM:245800
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Retinopathy, Type II diabetes mellitus, Abnormal chorioretinal morphology, Protei...	ORPHA:225
Hypomagnesemia 3, Renal	Hypocitraturia, Hypercitraturia, Hypermagnesiuria, Recurrent urinary tract infections, Hematuria,...	OMIM:248250
Nephronophthisis-Like Nephropathy 2	Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Renal insufficiency, Perigl...	OMIM:619468
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor	OMIM:609021
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus, Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Neonatal hypoglycemia, Truncal obesity	OMIM:240900
Insulinoma	Hyperinsulinemia, Abnormality of the pancreatic islet cells, Nonketotic hypoglycemia, Neuroendocr...	ORPHA:97279
Bardet-Biedl Syndrome 3	Renal hypoplasia, Rod-cone dystrophy, Obesity, Pigmentary retinopathy	OMIM:600151
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
X-Linked Acrogigantism	Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr...	ORPHA:300373
Bartter Syndrome, Type 3	Hyperaldosteronism, Abnormal choroid morphology, Abnormal retinal vascular morphology, Renal salt...	OMIM:607364
Cystinosis, Nephropathic	Aminoaciduria, Retinopathy, Hyperphosphaturia, Low-molecular-weight proteinuria, Dysphagia, Nephr...	OMIM:219800
Obesity, Hyperphagia, And Developmental Delay	Obesity, Polyphagia	OMIM:613886
Retinitis Pigmentosa 51	Rod-cone dystrophy, Abnormality of the kidney, Macular degeneration, Bone spicule pigmentation of...	OMIM:613464
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Retinal degeneration, Macular degeneration, Increased neuronal autofluorescent lip...	OMIM:256730
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re...	OMIM:613830
Senior-Loken Syndrome 1	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Retinal dystrophy, Thickeni...	OMIM:266900
Retinitis Pigmentosa 70	Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess...	OMIM:615922
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Impaired glucose tolerance, Retinal degeneration, Nephronophthisis, Obesity, Glucose intolerance,...	OMIM:615630
Best Vitelliform Macular Dystrophy	Cystoid macular degeneration, Choroideremia	ORPHA:1243
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy...	OMIM:143200
Nephronophthisis 14	Nephronophthisis, Retinal degeneration, Polycystic kidney dysplasia	OMIM:614844
Growth Hormone Insensitivity Syndrome	Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Hypoplasia of penis, Insulin resista...	ORPHA:181393
Graves Disease, Susceptibility To, 1	Hyperactivity, Weight loss, Increased circulating free T3, Decreased thyroid-stimulating hormone ...	OMIM:275000
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, Obesity, Polyphagia	ORPHA:177910
Central Areolar Choroidal Dystrophy	Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin...	ORPHA:75377
Galactosemia I	Aminoaciduria, Galactosuria, Failure to thrive, Increased level of galactitol in urine, Hypergona...	OMIM:230400
Prader-Willi syndrome (Type 1)	Hypogonadism, Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Hypogonadism, Truncal obesity	DECIPHER:53
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Diabetes mellitus, Failure to thrive, Polyuria, Proteinuria, Hyperechogenic k...	OMIM:613845
Cone-Rod Dystrophy 11	Macular degeneration, Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy	OMIM:610381
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia	OMIM:616949
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Abnormality of retinal pigmentation, Hypergonadotrop...	ORPHA:3085
Sim1-Related Prader-Willi-Like Syndrome	Central hypothyroidism, Precocious puberty, Hypogonadism, Hypothalamic luteinizing hormone-releas...	ORPHA:398079
Stargardt Disease	Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi...	ORPHA:827
Bardet-Biedl Syndrome 7	Rod-cone dystrophy, Obesity, Hypogonadism	OMIM:615984
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia, Cerebral atrophy	OMIM:616521
Proteinuria, Chronic Benign	Renal insufficiency, Proteinuria, Albuminuria	OMIM:618884
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Diabetes mellitus	OMIM:249270
Retinitis Pigmentosa 33	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:610359
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Retinal dystrophy, Obesity, Cerebral atrophy	OMIM:616756
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypernatremia	OMIM:125800
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperalaninemia, Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, Hyperglutamine...	OMIM:615751
Usher Syndrome, Type Iv	Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc...	OMIM:618144
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypernatremia	OMIM:304800
Mehmo Syndrome	Hypoplasia of penis, Agitation, Diabetes mellitus, Obesity, Micropenis	ORPHA:85282
Chromosome Xq21 Deletion Syndrome	Chorioretinal degeneration, Obesity, Chorioretinal atrophy, Choroideremia	OMIM:303110
Schaaf-Yang Syndrome	Hypogonadism, Impulsivity, Polyphagia, Obesity, Failure to thrive in infancy, Micropenis	OMIM:615547
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Obesity	OMIM:608320
C3 Glomerulopathy	Central serous chorioretinopathy, Glomerular extracapillary hypercellularity, Nephrotic syndrome,...	ORPHA:329918
Retinitis Pigmentosa 73	Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen...	OMIM:616544
Huntington Disease	Weight loss, Choking episodes, Alcoholism, Agitation, Polyphagia, Caudate atrophy, Cerebral atrop...	ORPHA:399
Retinitis Pigmentosa 4	Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:613731
Hsd10 Mitochondrial Disease	Cerebral cortical atrophy, Optic atrophy, Retinal degeneration, Agitation, Hypoglycemia, Restless...	OMIM:300438
Carcinoma Of Esophagus	Obesity, Weight loss, Dysphagia	ORPHA:70482
Chronic Bilirubin Encephalopathy	Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia	ORPHA:529799
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Enuresis, Obesity, Failure to thrive in infancy, Attention deficit hyperactivity disorder	OMIM:613670
Frontotemporal Dementia	Neuronal loss in central nervous system, Disinhibition, Polyphagia, Amyotrophic lateral sclerosis	OMIM:600274
Retinitis Pigmentosa 11	Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati...	OMIM:600138
Ophthalmoplegia, External, And Myopia	Chorioretinal degeneration, Retinal degeneration	OMIM:311000
Alg6-Cdg	Rod-cone dystrophy, Retinal degeneration, Puberty and gonadal disorders, Failure to thrive, Incre...	ORPHA:79320
Retinitis Pigmentosa 68	Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:615725
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Rod-cone dystrophy, Nephrocalcinosis, Obesity	OMIM:615633
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Cone-Rod Dystrophy 5	Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy	OMIM:600977
Lipoprotein Glomerulopathy	Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria	OMIM:611771
Mucolipidosis Iv	Cerebellar atrophy, Retinal degeneration, Hypergastrinemia, Optic atrophy	OMIM:252650
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Obesity, Polyphagia	ORPHA:411515
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Retinal degeneration, Cystoid macular degeneration, Macular atrophy	OMIM:267760
Peroxisome Biogenesis Disorder 1A (Zellweger)	Patent ductus arteriosus, Aminoaciduria, Cerebral cortical atrophy, Failure to thrive, Hypospadia...	OMIM:214100
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici...	OMIM:609734
Spondylometaphyseal Dysplasia, Axial	Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy	OMIM:602271
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Retinitis Pigmentosa 13	Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm...	OMIM:600059
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Rod-cone dystrophy, Obesity, Hypogonadism, Retinal coloboma	ORPHA:363741
Coenzyme Q10 Deficiency, Primary, 2	Bulimia, Obesity, Overweight, Optic atrophy	OMIM:614651
Retinitis Pigmentosa 81	Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A...	OMIM:617871
Familial Drusen	Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ...	ORPHA:75376
Cystinosis	Hypothyroidism, Aminoaciduria, Retinopathy, Type I diabetes mellitus, Failure to thrive, Delayed ...	ORPHA:213
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Rod-cone dystrophy, Obesity, Hypogonadism, Retinal coloboma	OMIM:601794
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia	OMIM:615508
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:610600
Achromatopsia	Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl...	ORPHA:49382
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Hyperphosphaturia, Elevated circulating parathyroid hormone level, Failure to thri...	OMIM:239200
Hsd10 Disease, Infantile Type	Abnormal concentration of acylcarnitine in the urine, Rod-cone dystrophy, Abnormality of the lowe...	ORPHA:391428
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon...	OMIM:300539
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Retinal degeneration, Cerebral cortical atrophy, Increased neuronal autofluor...	OMIM:256731
6Q16 Microdeletion Syndrome	Obesity, Polyphagia	ORPHA:171829
Cednik Syndrome	Abnormality of peripheral nerve conduction, Optic atrophy, Hypogonadism, Nephrotic syndrome, Prot...	ORPHA:66631
Wolfram-Like Syndrome	Primary gonadal insufficiency, Hypothyroidism, Optic atrophy, Abnormality of the upper urinary tr...	ORPHA:411590
Hypoadrenocorticism, Familial	Hyperkalemia, Hyponatremia	OMIM:240200
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Membranoproliferative glomerulonephritis, Type I diabetes mellitus, Failure...	OMIM:619525
Intellectual Developmental Disorder With Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Magel2-Related Prader-Willi-Like Syndrome	Central hypothyroidism, Precocious puberty, Hypogonadism, Hypothalamic luteinizing hormone-releas...	ORPHA:398069
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome	OMIM:614199
Corticosterone Methyloxidase Type I Deficiency	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:203400
Mehmo Syndrome	Decreased response to growth hormone stimulation test, Small for gestational age, Male hypogonadi...	OMIM:300148
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropathy, Proteinuria, Ren...	OMIM:137950
Hyperostosis Frontalis Interna	Diabetes mellitus, Increased circulating prolactin concentration, Obesity	OMIM:144800
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Urinary incontinence, Retinal dystrophy, Puberty and gonadal disorders, Cerebral atrophy, Obesity	ORPHA:464282
Cone-Rod Dystrophy 13	Macular degeneration, Cone/cone-rod dystrophy	OMIM:608194
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Decreased body weight, Polyphagia	OMIM:620085
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet...	OMIM:256450
Narcolepsy Type 1	Obesity	ORPHA:2073
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Obesity, Hypoplasia of penis	ORPHA:3055
Retinitis Pigmentosa 90	Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:619007
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Renal potassium wasting	OMIM:618314
Craniopharyngioma	Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Optic atro...	ORPHA:54595
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia	OMIM:300971
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Impaired renal concentrating ability, Hyperaldosteronism, Renal salt wasting, Hypernatriuria, Hyp...	OMIM:602522
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Glomerular deposits, Pro...	OMIM:601894
Laurence-Moon Syndrome	Type II diabetes mellitus, Hypoplasia of penis, Renal insufficiency, Obesity, Displacement of the...	ORPHA:2377
Microphthalmia, Isolated 5	Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of...	OMIM:611040
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e...	ORPHA:41751
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio...	ORPHA:94093
Al Amyloidosis	Weight loss, Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, ...	ORPHA:85443
Nephronophthisis 1	Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst...	OMIM:256100
Macular Degeneration, Age-Related, 3	Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization, Drusen	OMIM:608895
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:98754
Webb-Dattani Syndrome	Hypernatremia	OMIM:615926
Macular Dystrophy, Vitelliform, 3	Choroidal neovascularization, Macular atrophy, Vitelliform-like macular lesions, Drusen, Macular ...	OMIM:608161
Bardet-Biedl Syndrome	Multicystic kidney dysplasia, Hypogonadism, Nephrotic syndrome, Hypoplasia of penis, Hypoplasia o...	ORPHA:110
Retinitis Pigmentosa 38	Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor	OMIM:613862
Preeclampsia	Increased body mass index, Small for gestational age, Acute kidney injury, Abnormality of the kid...	ORPHA:275555
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperaldosteronism, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Failure to thrive, Incr...	OMIM:613090
Bothnia Retinal Dystrophy	Retinal dystrophy, Macular degeneration	OMIM:607475
Arima Syndrome	Renal tubular atrophy, Optic atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polyc...	OMIM:243910
Cortisone Reductase Deficiency 2	Obesity, Insulin resistance, Premature pubarche	OMIM:614662
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hyperaldosteronism, Renal sodium wasting, Renal salt wasting, Increased circulating renin level, ...	OMIM:612780
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity	OMIM:309585
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:98793
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat...	OMIM:616108
Pick Disease Of Brain	Neuronal loss in central nervous system, Disinhibition, Polyphagia	OMIM:172700
Retinitis Pigmentosa 19	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:601718
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:177904
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features	Macular degeneration	OMIM:612948
Macular Degeneration, Age-Related, 1	Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy...	OMIM:603075
Gitelman Syndrome	Increased circulating renin level, Nocturia, Failure to thrive, Delayed puberty, Polyuria, Hypoca...	OMIM:263800
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:177901
Insulin-Resistance Syndrome Type B	Decreased body weight, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Glucose intoleran...	ORPHA:2298
Spinocerebellar Ataxia 7	Macular degeneration, Pigmentary retinopathy, Optic atrophy, Dysphagia	OMIM:164500
Hyperprolinemia Type 1	Prolinuria, Nephropathy, Proteinuria	ORPHA:419
Spastic Paraplegia 15, Autosomal Recessive	Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary urgency, Macular degeneratio...	OMIM:270700
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp...	OMIM:601820
Lipodystrophy, Partial, Acquired, Susceptibility To	Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Diabetes mellitus, Prote...	OMIM:608709
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Congenital hypothyroidism, Obesity, Congenital stationary night blindness, Cerebral cortical atrophy	ORPHA:352530
Nephronophthisis 3	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne...	OMIM:604387
Pyruvate Carboxylase Deficiency	Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Neonatal hyperbilirubinemia, ...	ORPHA:3008
Cone-Rod Dystrophy 16	Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re...	OMIM:614500
Autosomal Dominant Polycystic Kidney Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit...	ORPHA:730
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu...	OMIM:304020
Prader-Willi-Like Syndrome	Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Bulimia, Dela...	ORPHA:398073
Nephrogenic Diabetes Insipidus	Hypernatremia	ORPHA:223
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Hematuria, Proteinuria, Retinal detachment, Renal insufficiency	ORPHA:375
Trisomy 5P	Renal hypoplasia/aplasia, Obesity, Hypoplasia of penis	ORPHA:1742
Nephrotic Syndrome, Type 23	Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper...	OMIM:619201
Nephrotic Syndrome, Type 17	Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta...	OMIM:618176
Bdv Syndrome	Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin...	OMIM:619326
Chromosome Xq26.3 Duplication Syndrome	Increased circulating prolactin concentration, Hypopituitarism, Pituitary adenoma, Overgrowth, In...	OMIM:300942
Focal Segmental Glomerulosclerosis 2	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros...	OMIM:603965
Bardet-Biedl Syndrome 1	Rod-cone dystrophy, Hypogonadism, Hyperautofluorescent macular lesion, Abnormality of the kidney,...	OMIM:209900
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Patent ductus arteriosus, Peripheral retinal atrophy, Retinal dystrophy, Absent foveal reflex	OMIM:615147
Nephronophthisis 4	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne...	OMIM:606966
Biemond Syndrome Type 2	Hypogonadism, Delayed puberty, Hypospadias, Hypogonadotropic hypogonadism, Obesity	ORPHA:141333
Morbid Obesity And Spermatogenic Failure	Type II diabetes mellitus, Obesity, Insulin resistance	OMIM:615703
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Decreased circulating renin level, Adrenal hyperplasia, Polyuria, Polydipsia,...	OMIM:613677
Nephrotic Syndrome, Type 7	Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas...	OMIM:615008
Intellectual Developmental Disorder, X-Linked 91	Obesity	OMIM:300577
Non-Specific Early-Onset Epileptic Encephalopathy	Brain atrophy, Optic atrophy, Retinal degeneration, Failure to thrive, Impulsivity, Attention def...	ORPHA:442835
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:177735
Retinitis Pigmentosa 88	Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:618826
Focal Segmental Glomerulosclerosis 7	Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta...	OMIM:616002
Focal Segmental Glomerulosclerosis 8	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:616032
Nephrotic Syndrome, Type 18	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s...	OMIM:618178
Nephrotic Syndrome, Type 20	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:301028
Retinitis Pigmentosa 27	Rod-cone dystrophy, Macular edema, Macular atrophy, Peripapillary chorioretinal atrophy, Choriore...	OMIM:613750
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Hernández-Aguirre Negrete Syndrome	Delayed puberty, Obesity	ORPHA:2139
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Retrobulbar optic neuritis, Hypergonadotropic hypogonadism, Hyperglycemia, Obe...	OMIM:619737
Wagro Syndrome	Nephroblastoma, Agitation, Polyphagia, Proteinuria, Obesity	OMIM:612469
Pediatric-Onset Graves Disease	Hyperactivity, Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Increa...	ORPHA:525731
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypogonadism, Type II diabetes mellitus, Hypoplasia of penis, Eunuchoid habitus, Abnormality of t...	ORPHA:2234
Angelman Syndrome	Precocious puberty in females, Hyperactivity, Cerebral cortical atrophy, Optic atrophy, Obesity, ...	ORPHA:72
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Lattice retinal degeneration, Rhegmatogenous retinal detachment	OMIM:619248
Central Retinal Vein Occlusion	Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne...	ORPHA:411527
Intellectual Developmental Disorder And Retinitis Pigmentosa	Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Bone spicul...	OMIM:618195
Papillorenal Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Morning glory anomaly, Retinal coloboma, Sta...	OMIM:120330
Paget Disease Of Bone 5, Juvenile-Onset	Retinopathy, Angioid streaks of the fundus, Retinal degeneration, Hydroxyprolinuria, Failure to t...	OMIM:239000
Borjeson-Forssman-Lehmann Syndrome	Delayed puberty, Obesity, Micropenis	OMIM:301900
Focal Segmental Glomerulosclerosis 10	Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien...	OMIM:256020
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Achromatopsia 7	Hypoplasia of the fovea, Macular atrophy, Absent foveal reflex	OMIM:616517
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Cone Dystrophy 3	Macular atrophy, Cone/cone-rod dystrophy	OMIM:602093
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperkalemia, Hyponatremia	OMIM:264350
Man1B1-Cdg	Polyphagia, Truncal obesity	ORPHA:397941
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem...	ORPHA:293964
Cone-Rod Dystrophy 15	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613660
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:556037
Pseudohypoparathyroidism, Type Ib	Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra...	OMIM:603233
Galloway-Mowat Syndrome 6	Hypothyroidism, Cerebellar vermis atrophy, Decreased response to growth hormone stimulation test,...	OMIM:618347
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I...	OMIM:274300
Senior-Loken Syndrome 3	Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresi...	OMIM:606995
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Rod-cone dystrophy, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothala...	ORPHA:2235
Focal Segmental Glomerulosclerosis 6	Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria...	OMIM:614131
2Q23.1 Microdeletion Syndrome	Hyperactivity, Hypoplasia of penis, Polyphagia	ORPHA:228402
Alport Syndrome	Renal tubular atrophy, IgA deposition in the glomerulus, Thickening of glomerular capillary wall,...	ORPHA:63
Septo-Optic Dysplasia Spectrum	Diabetes insipidus, Anterior pituitary hypoplasia, Septo-optic dysplasia, Maternal diabetes, Hypo...	ORPHA:3157
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Central Precocious Puberty	Isosexual precocious puberty, Premature thelarche, Increased circulating gonadotropin level, Over...	ORPHA:759
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria	OMIM:161900
Ceroid Lipofuscinosis, Neuronal, 10	Rod-cone dystrophy, Retinal atrophy, Neuronal loss in central nervous system, Cerebral atrophy, I...	OMIM:610127
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitation, Reactive hy...	ORPHA:276608
Renal Hypoplasia	Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec...	ORPHA:93101
Refsum Disease, Classic	Retinal degeneration, Rod-cone dystrophy, Abnormal renal physiology	OMIM:266500
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Absence of pubertal development, Hypogonadotropic hypogonadism, Obesity, Micro...	OMIM:610628
Congenital Isolated Acth Deficiency	Hyperkalemia, Hyponatremia	ORPHA:199296
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Moderate albuminuria, Hematuria,...	ORPHA:95455
Xq27.3Q28 Duplication Syndrome	Failure to thrive, Hypogonadism, Truncal obesity	ORPHA:261483
Lipodystrophy, Familial Partial, Type 7	Impaired glucose tolerance, Small for gestational age, Glucose intolerance, Insulin resistance, T...	OMIM:606721
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur...	OMIM:308990
Progressive Bifocal Chorioretinal Atrophy	Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy	ORPHA:75373
Baralle-Macken Syndrome	Urinary incontinence, Obesity, Global brain atrophy	OMIM:619255
Secondary Short Bowel Syndrome	Central hypothyroidism, Weight loss, Aganglionic megacolon, Failure to thrive, Polyphagia, Primar...	ORPHA:95427
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Blue urine, Decreased circulating...	ORPHA:94086
Oligomeganephronia	Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Small for g...	ORPHA:2260
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:617783
Bartter Syndrome, Type 1, Antenatal	Hyperaldosteronism, Hyposthenuria, Small for gestational age, Hyperprostaglandinuria, Increased c...	OMIM:601678
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Brain atrophy, Abnormal auditory evoked potentials, Retinal degeneration, Macular atrophy, Attenu...	OMIM:619260
Developmental And Epileptic Encephalopathy 28	Retinal degeneration, Cerebral atrophy, Optic atrophy	OMIM:616211
Nail-Patella-Like Renal Disease	Glomerulopathy, Proteinuria, Renal insufficiency, Microscopic hematuria	ORPHA:2613
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Retinitis Pigmentosa 80	Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels	OMIM:617781
Galloway-Mowat Syndrome 8	Renal tubular atrophy, Cerebral cortical atrophy, Brain atrophy, Nephrotic syndrome, Stage 5 chro...	OMIM:618349
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT...	OMIM:615954
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Hyperinsulinism Due To Hnf4A Deficiency	Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Large for gestational age, Hyperinsulinem...	ORPHA:263455
Simpson-Golabi-Behmel Syndrome, Type 2	Obesity	OMIM:300209
Iga Nephropathy, Susceptibility To, 2	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria	OMIM:613944
Bartter Syndrome, Type 2, Antenatal	Hyperaldosteronism, Hyposthenuria, Small for gestational age, Hyperprostaglandinuria, Increased c...	OMIM:241200
Prader-Willi Syndrome	Failure to thrive in infancy, Hyperinsulinemia, Precocious puberty, Decreased response to growth ...	OMIM:176270
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Lattice retinal degeneration, Vitreous floaters, Peripheral vitreoretinal deg...	OMIM:614292
Juvenile Neuronal Ceroid Lipofuscinosis	Retinal degeneration, Cerebral atrophy, Dysphagia, Cerebellar atrophy, Optic disc pallor, Pigment...	ORPHA:79264
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Rod-cone dystrophy, Abnormality of pattern visual evoked potentials, Cerebral cortical atrophy, R...	ORPHA:166035
Focal Segmental Glomerulosclerosis 5	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria	OMIM:607832
Amelogenesis Imperfecta, Type Ig	Impaired renal concentrating ability, Nephrocalcinosis, Overgrowth, Polyuria, Enuresis, Renal ins...	OMIM:204690
Nephrotic Syndrome, Type 9	Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy...	OMIM:615573
Alstrom Syndrome	Tubulointerstitial nephritis, Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased res...	OMIM:203800
Prader-Willi Syndrome	Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test...	ORPHA:739
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:556030
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Optic atrophy, Glycosuria, Hyperphosphaturia, Failure to thrive, Proteinuria, Rena...	ORPHA:436271
Bardet-Biedl Syndrome 12	Rod-cone dystrophy, Hypogonadism, Hydroureter, Cystic renal dysplasia, Obesity, Hydronephrosis	OMIM:615989
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu...	OMIM:616818
Aceruloplasminemia	Diabetes mellitus, Retinal degeneration	OMIM:604290
Joubert Syndrome 6	Nephronophthisis, Retinal degeneration, Chorioretinal coloboma, Stage 5 chronic kidney disease	OMIM:610688
Central Diabetes Insipidus	Hyponatremia	ORPHA:178029
Autosomal Recessive Spastic Paraplegia Type 11	Cerebral cortical atrophy, Abnormality of pattern visual evoked potentials, Retinal degeneration,...	ORPHA:2822
Leber Congenital Amaurosis 4	Attenuation of retinal blood vessels, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy	OMIM:604393
7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Hyperactivity, Abnormal optic disc morphology, Unilateral renal agenesi...	ORPHA:96121
Adenine Phosphoribosyltransferase Deficiency	Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect...	ORPHA:976
Preeclampsia/Eclampsia 1	Proteinuria	OMIM:189800
Retinitis Pigmentosa 74	Rod-cone dystrophy, Optic disc pallor, Obesity, Abnormal renal morphology, Pigmentary retinopathy	OMIM:616562
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Dysphagia, Macular degeneration, Cerebellar atrophy, Neurogenic bladder	OMIM:619780
Autoinflammatory-Pancytopenia Syndrome	Failure to thrive, Proteinuria, Membranoproliferative glomerulonephritis, Type I diabetes mellitus	OMIM:619858
Oguchi Disease	Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness, Mizuo phenomenon	ORPHA:75382
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Diabetes mellitus, Hypospadias, Congenital hypothyroidism, Obesity	OMIM:614613
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Retinopathy, Optic atrophy, Macular atrophy, Cerebral atrophy, Cerebellar atrophy, Optic disc pallor	OMIM:616171
Summitt Syndrome	Obesity	OMIM:272350
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Hyponatremia	OMIM:614736
Teratoma, Pineal	Polyuria, Polydipsia	OMIM:273120
Retinitis Pigmentosa 84	Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:618220
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Cerebral cortical atrophy, Nephrotic syndrome, Type I diabetes mellitus, Nephropathy, Proteinuria	ORPHA:1192
Idiopathic Intracranial Hypertension	Papilledema, Obesity	ORPHA:238624
Nephrotic Syndrome, Type 15	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep...	OMIM:617609
Coenzyme Q10 Deficiency, Primary, 1	Rod-cone dystrophy, Nephrotic syndrome, Diffuse cerebral atrophy, Glomerular sclerosis, Hypergona...	OMIM:607426
11P15.4 Microduplication Syndrome	Obesity	ORPHA:300305
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Patent ductus arteriosus, Renal agenesis, Hypospadias, Cerebral atrophy, Renal hypoplasia, Obesit...	ORPHA:171839
Sjogren-Larsson Syndrome	Retinal pigment epithelial atrophy, Retinal thinning, Macular crystals, Macular degeneration, Mac...	OMIM:270200
Idiopathic Non-Lupus Full-House Nephropathy	Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri...	ORPHA:567544
Luscan-Lumish Syndrome	Overgrowth, Obesity, Polyphagia	OMIM:616831
Nephrotic Syndrome, Type 2	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:600995
Renal Hypoplasia, Bilateral	Vesicoureteral reflux, Beta 2-microglobulinuria, Small for gestational age, Glycosuria, Chronic k...	ORPHA:97362
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Trisomy 18P	Attention deficit hyperactivity disorder, Polyphagia, Facial palsy	ORPHA:1715
Smith-Magenis Syndrome	Hypothyroidism, Precocious puberty, Renal hypoplasia/aplasia, Delayed puberty, Abnormality of the...	ORPHA:819
Leber Congenital Amaurosis 9	Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p...	OMIM:608553
Retinitis Pigmentosa 77	Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti...	OMIM:617304
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Helix Syndrome	Hyperparathyroidism, Polyuria, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Polydipsia	OMIM:617671
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Optic atrophy, Glycosuria, Hyperphosphaturia, Failure to thrive, Proteinuria, Rena...	OMIM:220110
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Minimal change glomerulonephritis, Podocyte foot process effacement, Nephrotic syndrome	OMIM:617006
Poretti-Boltshauser Syndrome	Retinal atrophy, Retinal dystrophy, Retinal thinning	OMIM:615960
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Minimal change glomer...	ORPHA:567548
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r...	OMIM:611555
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Hepatic necrosis, Dicarboxylic aciduria, Hyperinsulinemic hypoglycemia,...	ORPHA:71212
Adrenocortical Carcinoma	Increased serum estradiol, Hyperaldosteronism, Increased circulating cortisol level, Adrenocortic...	ORPHA:1501
Retinitis Pigmentosa 79	Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:617460
Liddle Syndrome 3	Hypokalemia	OMIM:618126
Scheie Syndrome	Retinal degeneration	OMIM:607016
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary norepinephrine, Cranial nerve compression, Weight loss, Hypertensive retinopathy...	ORPHA:276621
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Low urinary cyclic AMP response to PTH adm...	ORPHA:79444
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal dystrophy, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ...	OMIM:617547
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abnormality of the kidney, Failure to thrive, Delayed puberty, Hypoglycemia, Proteinuria	ORPHA:369
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Corpus callosum atrophy, Hypothyroidism, Hypogonadism, Retinal atrophy, Type II diabetes mellitus...	ORPHA:412057
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul...	OMIM:310468
Galloway-Mowat Syndrome 5	Brain atrophy, Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome,...	OMIM:617731
11Q22.2Q22.3 Microdeletion Syndrome	Obesity, Attention deficit hyperactivity disorder	ORPHA:444002
Maternal Uniparental Disomy Of Chromosome 2	Hypothyroidism, Decreased response to growth hormone stimulation test, Renal dysplasia, Retinal d...	ORPHA:96179
Sjögren-Larsson Syndrome	Macular degeneration, Retinopathy, Abnormality of retinal pigmentation	ORPHA:816
Lipodystrophy, Congenital Generalized, Type 1	Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Decreased serum leptin, Diabete...	OMIM:608594
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Glycosuria, Hyperphosphaturia, Large for gestational age, Diabetes mellitus, Hypog...	OMIM:616026
Galloway-Mowat Syndrome 2, X-Linked	Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Cerebral a...	OMIM:301006
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Retinal degeneration	OMIM:616896
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary norepinephrine, Cranial nerve compression, Weight loss, Renal cell carcinoma, Hy...	ORPHA:29072
Cebalid Syndrome	Polyphagia	OMIM:618774
Temple Syndrome	Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Overweight, ...	OMIM:616222
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen...	ORPHA:364055
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc...	ORPHA:567546
Hepatic Veno-Occlusive Disease	Renal insufficiency, Increased body weight	ORPHA:890
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Insulin resistance, Microscopic hematuria	ORPHA:79087
Hypogonadotropic Hypogonadism 27 Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi...	OMIM:619755
Bardet-Biedl Syndrome 20	Rod-cone dystrophy, Papilledema, Retinal vascular tortuosity, Male hypogonadism, Proteinuria, Obe...	OMIM:619471
Adiposis Dolorosa	Obesity	OMIM:103200
Systemic Sclerosis	Acute kidney injury, Abnormality of the kidney, Glomerulonephritis, Albuminuria, Proteinuria, Dys...	ORPHA:90291
Nephrotic Syndrome, Type 1	Renal tubular atrophy, Hypothyroidism, Congenital nephrotic syndrome, Small for gestational age, ...	OMIM:256300
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Proteinuria, Hematuria	ORPHA:2134
48,Xxyy Syndrome	Type II diabetes mellitus, Hypoplasia of penis, Attention deficit hyperactivity disorder, Hypergo...	ORPHA:10
Late Infantile Neuronal Ceroid Lipofuscinosis	Corpus callosum atrophy, Hyperactivity, Retinal degeneration, Cerebral atrophy, Cerebellar atroph...	ORPHA:168491
Igg4-Related Kidney Disease	Abnormality of the anterior pituitary, Nephrotic range proteinuria, Hydronephrosis, Tubulointerst...	ORPHA:449395
Diarrhea 1, Secretory Chloride, Congenital	Increased circulating renin level, Hypokalemia, Hypochloremia, Hyponatremia	OMIM:214700
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Attention deficit hyperactivity disorder	OMIM:618725
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d...	OMIM:610489
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Absent ...	ORPHA:1215
Smith-Magenis Syndrome	Hyperactivity, Abnormality of the thyroid gland, Retinal detachment, Abnormality of the urinary s...	OMIM:182290
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre...	ORPHA:189427
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Ketonuria, Abnormal...	ORPHA:79644
Lipodystrophy, Congenital Generalized, Type 2	Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Type II diabetes mellitus, Decr...	OMIM:269700
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Retinitis Pigmentosa 86	Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:618613
Retinitis Pigmentosa 10	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:180105
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic aciduria, Hemolytic-uremic syndrome, Glomerulopathy, Optic atrophy, Ketonuria, Reti...	ORPHA:79282
Iga Nephropathy, Susceptibility To, 1	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria	OMIM:161950
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:614455
Infantile Nephropathic Cystinosis	Aminoaciduria, Abnormality of thyroid physiology, Glycosuria, Hyperphosphaturia, Failure to thriv...	ORPHA:411629
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome	OMIM:613913
Donnai-Barrow Syndrome	Retinal dystrophy, Proteinuria, Retinal detachment	ORPHA:2143
Coenzyme Q10 Deficiency, Primary, 6	Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr...	OMIM:614650
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity, Stage 1 chronic kidney disease	OMIM:618821
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Vesicoureteral reflux, Obesity, Pseudohypoparathyroidism, Renal hypoplasia, Abnormality of the en...	ORPHA:464288
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Low urinary cyclic AMP response to PTH adm...	ORPHA:79443
Chung-Jansen Syndrome	Impulsivity, Obesity, Attention deficit hyperactivity disorder	OMIM:617991
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Increased circulating ACTH level, Glucose intolerance, Pituitary aden...	OMIM:219090
Nephrotic Syndrome, Type 14	Hypothyroidism, Hypogonadism, Nephrotic syndrome, Adrenal insufficiency, Stage 5 chronic kidney d...	OMIM:617575
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Obesity, Maturity-onset diabetes of the young	ORPHA:254531
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephroblastoma, Renal insufficiency, Nephropathy, Hypospadias, Streak ovary, Obesity	OMIM:194072
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co...	OMIM:267700
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:171876
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Stage 5 chronic kidney disease, Proteinuria, Retinopathy, Retinal pigment epithelial mottling	OMIM:219900
Beta-Mercaptolactate Cysteine Disulfiduria	Abnormality of the ureter, Obesity	ORPHA:1035
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M...	OMIM:145350
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Aminoaciduria, Renal tubular acidosis, Glycosuria, Failure to thrive, Nephropathy, Nephrocalcinos...	OMIM:613404
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Retinitis Pigmentosa 41	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:612095
Laron Syndrome	Hypoplasia of penis, Delayed puberty, Hypoglycemia, Truncal obesity, Abnormality of the endocrine...	ORPHA:633
Morgagni-Stewart-Morel Syndrome	Hypothyroidism, Cerebral cortical atrophy, Brain atrophy, Abnormality of the endocrine system, Di...	ORPHA:77296
Congenital-Onset Steinert Myotonic Dystrophy	Patent ductus arteriosus, Hyperactivity, Decreased body weight, Dysphagia, Enuresis, Obesity	ORPHA:589821
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Obesity	ORPHA:88643
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Pseudopapilledema, Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Di...	OMIM:146255
Focal Segmental Glomerulosclerosis 1	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:603278
Interstitial Nephritis, Karyomegalic	Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ...	OMIM:614817
Wagr Syndrome	Obesity, Displacement of the urethral meatus	ORPHA:893
Pseudohypoparathyroidism, Type Ic	Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Low urinary cycli...	OMIM:612462
Immunodeficiency 61	Obesity, Attention deficit hyperactivity disorder	OMIM:300310
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Optic atrophy, Abnormality of retinal pigmentation, Proteinuria, Renal insufficie...	ORPHA:2715
1P36 Deletion Syndrome	Patent ductus arteriosus, Hypothyroidism, Cerebral cortical atrophy, Hypogonadism, Ocular albinis...	ORPHA:1606
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo...	OMIM:613092
Frasier Syndrome	Nephroblastoma, Glomerulopathy, Renal insufficiency, Decreased serum estradiol, Nephrotic syndrom...	ORPHA:347
Mitochondrial Trifunctional Protein Deficiency 1	Hypoketotic hypoglycemia, Small for gestational age, Failure to thrive, Myoglobinuria, Pigmentary...	OMIM:609015
Joubert Syndrome 8	Obesity, Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Colchicine Poisoning	Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo...	ORPHA:31824
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology...	ORPHA:84090
Nephrotic Syndrome, Type 6	Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri...	OMIM:614196
Senior-Loken Syndrome 8	Rod-cone dystrophy, Stage 5 chronic kidney disease, Retinal dystrophy, Macular atrophy, Glomerula...	OMIM:616307
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Generalized aminoaciduria, Elevated ci...	OMIM:613388
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Central hypothyroidism, Increased circulating prolactin concentration, Gonadotropin deficiency, D...	ORPHA:293987
Primary Pigmented Nodular Adrenocortical Disease	Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level...	ORPHA:189439
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hemolytic-uremic syndrome, Methylmalonic aciduria, Cerebral cortical atrophy, Cystathioninuria, H...	OMIM:277400
Cortisone Reductase Deficiency 1	Precocious puberty, Obesity	OMIM:604931
Zttk Syndrome	Patent ductus arteriosus, Optic atrophy, Unilateral renal agenesis, Failure to thrive, Polyuria, ...	OMIM:617140
Chromosome Xq27.3-Q28 Duplication Syndrome	Hypogonadism, Small for gestational age, Increased circulating gonadotropin level, Decreased seru...	OMIM:300869
Urban-Rogers-Meyer Syndrome	Abnormality of the ureter, Obesity, Hypoplasia of penis, Hypogonadism	ORPHA:3409
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Enuresis nocturna, Recurren...	OMIM:615873
Galloway-Mowat Syndrome 10	Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial sclerosis, Ce...	OMIM:619609
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Stage 5 chronic kidney disease, Attenuation of retinal blood vessels, Chronic tubulointerstitial ...	OMIM:614376
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:370022
Retinal Cone Dystrophy 3B	Macular atrophy, Cone/cone-rod dystrophy	OMIM:610356
Multiple Sulfatase Deficiency	Cerebellar atrophy, Retinal degeneration, Mucopolysacchariduria, Cerebral atrophy	OMIM:272200
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Cerebellar vermis atrophy, Hypogonadism, Delayed puberty, Hypospadias, Abdominal o...	OMIM:300354
Aicardi-Goutieres Syndrome 9	Hypothyroidism, Weight loss, Recurrent urinary tract infections, Stage 5 chronic kidney disease, ...	OMIM:619487
Retinitis Pigmentosa 58	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613617
Hydrocephalus-Obesity-Hypogonadism Syndrome	Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism	ORPHA:2183
Retinitis Pigmentosa 56	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613581
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Optic atrophy, Choroideremia, Anterior hyp...	ORPHA:1435
Abetalipoproteinemia	Retinal degeneration, Retinopathy	OMIM:200100
White-Sutton Syndrome	Patent ductus arteriosus, Hyperactivity, Rod-cone dystrophy, Optic nerve hypoplasia, Failure to t...	OMIM:616364
Adenine Phosphoribosyltransferase Deficiency	Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro...	OMIM:614723
Phosphoglycerate Kinase 1 Deficiency	Retinal dystrophy, Exercise-induced myoglobinuria, Renal insufficiency	OMIM:300653
Cohen Syndrome	Childhood-onset truncal obesity, Decreased response to growth hormone stimulation test, Optic atr...	OMIM:216550
Nephrotic Syndrome, Type 3	Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc...	OMIM:610725
Pseudohypoparathyroidism, Type Ia	Hypothyroidism, Low urinary cyclic AMP response to PTH administration, Hypogonadism, Elevated cir...	OMIM:103580
Hypouricemia, Renal, 1	Urolithiasis, Renal cortical hyperechogenicity, Uric acid nephrolithiasis, Acute kidney injury, R...	OMIM:220150
Macrophthalmia, Colobomatous, With Microcornea	Macular atrophy	OMIM:602499
Coronary Artery Disease, Autosomal Dominant 2	Type II diabetes mellitus, Glucose intolerance, Impaired glucose tolerance	OMIM:610947
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Aa Amyloidosis	Hypothyroidism, Nephrotic syndrome, Adrenal insufficiency, Enlarged kidney, Acute kidney injury, ...	ORPHA:85445
Hereditary Coproporphyria	Abnormal circulating porphyrin concentration, Hyponatremia	ORPHA:79273
Adnp Syndrome	Urinary incontinence, Recurrent urinary tract infections, Polyphagia, Attention deficit hyperacti...	ORPHA:404448
Retinitis Punctata Albescens	Retinal atrophy, Retinal pigment epithelial mottling, Yellow/white lesions of the retina, Macular...	ORPHA:52427
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Rod-cone dystrophy, Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment ...	ORPHA:436245
Clark-Baraitser Syndrome	Hyperactivity, Obesity	OMIM:617752
Porphyria Due To Ala Dehydratase Deficiency	Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,...	ORPHA:100924
Immunodeficiency, Common Variable, 6	Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co...	OMIM:613496
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Obesity, Hypogonadism	ORPHA:2233
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Obesity, Oral-pharyngeal dysphagia	ORPHA:480907
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Rod-cone dystrophy, Retinal degeneration, Renal cyst, Horseshoe kidney, Hypoautofluorescent retin...	OMIM:250410
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Cachexia, Decreased nerve conduction velocity, Methylmalonic aciduria, Abnormality...	ORPHA:1933
Wild Type Attr Amyloidosis	Orthostatic hypotension due to autonomic dysfunction, Weight loss, Nephrotic syndrome, Abnormal a...	ORPHA:330001
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes...	ORPHA:96184
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, In...	OMIM:614450
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Large for gestational age, Optic nerve hypoplasia, Overgrowth, Tall stature, Aplasia/Hypoplasia o...	ORPHA:137634
Amyloidosis, Familial Visceral	Nephropathy, Hematuria, Proteinuria, Nephrotic syndrome	OMIM:105200
Mepan Syndrome	Optic atrophy, Failure to thrive, Cerebral atrophy, Dysphagia, Cerebellar atrophy, Abnormality of...	ORPHA:508093
Gangliocytoma	Adrenocorticotropic hormone excess, Pituitary null cell adenoma, Abnormal prolactin level, Polyph...	ORPHA:251937
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Hypogonadism, Small for gestational age, Insulin resistance, Failure to thrive, Hy...	ORPHA:73272
Wilson-Turner Syndrome	Hypogonadotropic hypogonadism, Truncal obesity	ORPHA:3459
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Truncal obesity	ORPHA:2928
Cockayne Syndrome	Optic atrophy, Retinal atrophy, Cachexia, Retinal dystrophy, Delayed puberty, Absence of pubertal...	ORPHA:191
Ataxia With Vitamin E Deficiency	Diabetes mellitus, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation	ORPHA:96
Retinitis Pigmentosa 23	Retinal pigment epithelial atrophy, Absent foveal reflex, Rod-cone dystrophy, Attenuation of reti...	OMIM:300424
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hyperactivity, Obesity	ORPHA:397973
Megalencephaly	Long penis, Truncal obesity	ORPHA:2477
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Abnormality of macular pigmentation	ORPHA:1573
Nephronophthisis 13	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular sclerosis, Glomerular sub...	OMIM:614377
Melas	Hypothyroidism, Proximal tubulopathy, Cerebral cortical atrophy, Brain atrophy, Optic atrophy, Ty...	ORPHA:550
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Nephrotic syndrome	OMIM:614652
Snakebite Envenomation	Hyponatremia	ORPHA:449285
Carpenter Syndrome 1	Patent ductus arteriosus, Precocious puberty, Optic atrophy, Hydroureter, Cerebral atrophy, Obesi...	OMIM:201000
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Insulin resistance, Abdominal obesity	OMIM:615980
Familial Hypoaldosteronism	Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:427
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia	ORPHA:1930
Leiomyomatosis, Diffuse, With Alport Syndrome	Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren...	OMIM:308940
Intellectual Developmental Disorder, Autosomal Dominant 1	Polyphagia, Micropenis	OMIM:156200
Momo Syndrome	Overgrowth, Obesity, Retinal coloboma	OMIM:157980
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Micropenis, Polyphagia	ORPHA:251028
Galloway-Mowat Syndrome 4	Congenital nephrotic syndrome, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesang...	OMIM:617730
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Cerebral cortical atrophy, Choroidal neovascularization	ORPHA:404451
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Hartsfield Syndrome	Hypernatremia	OMIM:615465
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia	OMIM:608688
15Q24 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Microphallus, Small for gestational age, F...	ORPHA:94065
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Obesity	ORPHA:254525
Cone-Rod Dystrophy 8	Retinal arteriolar constriction, Cone/cone-rod dystrophy, Macular degeneration, Abnormality of re...	OMIM:605549
Glycogen Storage Disease Ia	Lipemia retinalis, Enlarged kidney, Delayed puberty, Hypoglycemia, Decreased glomerular filtratio...	OMIM:232200
Seckel Syndrome 10	Impaired glucose tolerance, Glycosuria, Insulin resistance, Diabetes mellitus, Elevated circulati...	OMIM:617253
Summitt Syndrome	Obesity, Tall stature	ORPHA:3210
Momo Syndrome	Large for gestational age, Overgrowth, Tall stature, Abnormality of the thyroid gland, Chorioreti...	ORPHA:2563
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal hemorrhage, Macular edema, Retinal exudate, Hematuria, Central nervous system degeneratio...	OMIM:192315
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity	ORPHA:2429
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Sheehan Syndrome	Abnormal size of pituitary gland, Hyposthenuria, Gonadotropin deficiency, Decreased serum estradi...	ORPHA:91355
Retinitis Pigmentosa 45	Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina	OMIM:613767
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Urinary incontinence, Cerebellar cortical atrophy, Abnormal autonomic nervous system physiology, ...	ORPHA:247234
Cornelia De Lange Syndrome 5	Micropenis, Hypogonadism, Truncal obesity	OMIM:300882
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Cherry red spot of the macula, Increased urinar...	OMIM:256550
Werner Syndrome	Diabetes mellitus, Retinal degeneration, Hypogonadism	OMIM:277700
Cone-Rod Dystrophy 2	Retinal pigment epithelial atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the ret...	OMIM:120970
Silver-Russell Syndrome	Precocious puberty, Cachexia, Insulin resistance, Hypospadias, Recurrent hypoglycemia, Abnormalit...	ORPHA:813
Canavan Disease	Abnormality of visual evoked potentials, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:141
Late-Onset Retinal Degeneration	Peripapillary atrophy, Macular degeneration, Choroidal neovascularization, Multifocal subretinal ...	ORPHA:67042
Aceruloplasminemia	Diabetes mellitus, Macular degeneration, Retinal degeneration, Abnormality of retinal pigmentation	ORPHA:48818
Jalili Syndrome	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme...	OMIM:217080
Pelizaeus-Merzbacher Disease	Cerebral cortical atrophy, Optic atrophy, Cachexia, Abnormality of visual evoked potentials, Abno...	ORPHA:702
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Retinal degeneration, Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Chronic kidney dis...	OMIM:208500
Retinitis Pigmentosa 60	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613983
Cone-Rod Dystrophy 10	Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610283
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria	OMIM:245900
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Hyperactivity, Obesity, Tall stature	OMIM:618089
Chops Syndrome	Patent ductus arteriosus, Vesicoureteral reflux, Optic atrophy, Horseshoe kidney, Obesity	OMIM:616368
Subaortic Stenosis-Short Stature Syndrome	Type II diabetes mellitus, Obesity	ORPHA:3191
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine, Proteinuria, Pheochromocytoma, Hypertensive retinopathy	OMIM:171420
Halothane Hepatitis	Obesity	OMIM:234350
Xfe Progeroid Syndrome	Optic atrophy, Cachexia, Attenuation of retinal blood vessels, Failure to thrive, Proteinuria, Re...	OMIM:610965
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Cerebral cortical atrophy, Agitation, Neuronal loss in central nervous system, Polyphagia, Disinh...	OMIM:607485
Proprotein Convertase 1/3 Deficiency	Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia, Obesity	OMIM:600955
Joubert Syndrome 37	Obesity, Micropenis, Hydronephrosis	OMIM:619185
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Retinal dystrophy, Renal insufficiency, Myoglobinuria	ORPHA:713
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration	OMIM:193230
48,Xxxy Syndrome	Hypogonadism, Renal dysplasia, Type II diabetes mellitus, Hypoplasia of penis, Attention deficit ...	ORPHA:96263
Nephrotic Syndrome, Type 8	Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ...	OMIM:615244
Alg8-Cdg	Hyponatremia	ORPHA:79325
Dent Disease	Renal phosphate wasting, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, ...	ORPHA:1652
Free Sialic Acid Storage Disease	Proteinuria, Failure to thrive in infancy, Nephrotic syndrome	ORPHA:834
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Proteinuria, Mucopolysacchariduria, Nephrotic syndrome	OMIM:215250
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Reduced circulating prolactin concentration	OMIM:264120
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria	ORPHA:54057
Dent Disease 2	Aminoaciduria, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis, Hypercal...	OMIM:300555
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat...	OMIM:603553
Atypical Werner Syndrome	Hyperinsulinemia, Decreased body weight, Hypogonadism, Glycosuria, Type II diabetes mellitus, Ret...	ORPHA:79474
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc coloboma, Hypothyroidism, Patent ductus arteriosus, Cerebral cortical atrophy, Optic a...	OMIM:607872
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr...	OMIM:619155
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity	OMIM:618124
Peroxisomal Acyl-Coa Oxidase Deficiency	Failure to thrive, Abnormality of visual evoked potentials, Optic atrophy	ORPHA:2971
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Nephrocalcinosis, Increased renal tubular phosphate reabsorption, Angioid streaks of the fundus, ...	OMIM:211900
Cholera	Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia	ORPHA:173
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia	OMIM:619381
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Obesity, Attention deficit hyperactivity disorder	OMIM:301013
Rafiq Syndrome	Obesity, Truncal obesity	OMIM:614202
Hurler Syndrome	Retinal degeneration, Dermatan sulfate excretion in urine, Urinary glycosaminoglycan excretion, N...	OMIM:607014
Ring Chromosome Y Syndrome	Urogenital sinus anomaly, Male hypogonadism, Hypospadias, Perineal hypospadias, Streak ovary, Obe...	ORPHA:261529
Nephrotic Syndrome, Type 11	Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn...	OMIM:616730
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Urinary incontinence, Pseudobulbar paralysis, Nonarteritic anterior ischemic optic neuropathy, Ab...	OMIM:125310
Intellectual Developmental Disorder, X-Linked 12	Small for gestational age, Increased body mass index, Microphallus, Truncal obesity	OMIM:300957
Pseudoxanthoma Elasticum	Retinal hemorrhage, Retinal peau d'orange, Optic disc drusen, Angioid streaks of the fundus, Macu...	OMIM:264800
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Macular edema, Glomerular sclerosis, Retinal neovascularization, Compensated hypothyroidism, Neph...	ORPHA:247691
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Cerebral cortical atrophy, Nephrotic syndrome, Decreased glomerular...	ORPHA:488627
Alström Syndrome	Cone/cone-rod dystrophy, Glomerulonephritis, Decreased circulating T4 concentration, Recurrent cy...	ORPHA:64
Wolcott-Rallison Syndrome	Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Hyponatremia	ORPHA:1667
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Macular degeneration	ORPHA:284289
Intellectual Developmental Disorder, Autosomal Recessive 13	Hyperactivity, Truncal obesity	OMIM:613192
Weaver Syndrome	Patent ductus arteriosus, Overgrowth, Polyphagia	OMIM:277590
Cockayne Syndrome A	Pigmentary retinopathy, Hypogonadism, Optic atrophy, Retinal atrophy, Abnormal auditory evoked po...	OMIM:216400
Hypobetalipoproteinemia, Familial, 1	Retinal degeneration, Rod-cone dystrophy	OMIM:615558
Multicentric Carpotarsal Osteolysis Syndrome	Stage 5 chronic kidney disease, Renal insufficiency, Bilateral renal atrophy, Proteinuria	OMIM:166300
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Precocious puberty, Hyperthyroidism, Neoplasm of the thyroid gland, Abnormal calcium-phosphate re...	ORPHA:457059
Micro Syndrome	Cerebral cortical atrophy, Optic atrophy, Retinal coloboma, Hypoplasia of penis, Abnormality of r...	ORPHA:2510
Pseudopseudohypoparathyroidism	Obesity, Pseudohypoparathyroidism	OMIM:612463
Mucopolysaccharidosis-Plus Syndrome	Renal tubular atrophy, Patent ductus arteriosus, Brain atrophy, Optic atrophy, Nephrotic syndrome...	OMIM:617303
Acute Zonal Occult Outer Retinopathy	Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo...	ORPHA:284454
Diarrhea 10, Protein-Losing Enteropathy Type	Hypothyroidism, Polyuria, Elevated circulating thyroid-stimulating hormone concentration, Renal d...	OMIM:618183
Axial Spondylometaphyseal Dysplasia	Retinal dystrophy, Rod-cone dystrophy, Peripheral retinal degeneration, Optic atrophy	ORPHA:168549
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Impulsivity, Attention deficit hyperactivity disorder, Increased body weight	ORPHA:589905
Pseudopseudohypoparathyroidism	Elevated circulating parathyroid hormone level, Abnormality of the endocrine system, Obesity	ORPHA:79445
Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Retinal flecks, Impulsivity, Attention d...	ORPHA:157850
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Obesity	OMIM:300238
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Obesity	ORPHA:3077
Genetic Steroid-Resistant Nephrotic Syndrome	Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial...	ORPHA:656
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia	ORPHA:83601
Juvenile Nephropathic Cystinosis	Abnormal urine potassium concentration, Hypothyroidism, Aminoaciduria, Proximal tubulopathy, Rena...	ORPHA:411634
Chromosome 16P13.3 Deletion Syndrome, Proximal	Abnormality of the kidney, Failure to thrive, Obesity	OMIM:610543
Meningioma	Enlarged pituitary gland, Decreased circulating follicle stimulating hormone concentration, Incre...	ORPHA:2495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Retinal degeneration	OMIM:615249
Renal Cysts And Diabetes Syndrome	Cerebral cortical atrophy, Impaired glucose tolerance, Stage 5 chronic kidney disease, Glycosuria...	OMIM:137920
Adrenal Hypoplasia, Congenital	Hyponatremia	OMIM:300200
Microtriplication 11Q24.1	Obesity	ORPHA:289522
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypothyroidism, Premature thelarche, Optic atrophy, Ketonuria, Hypoglycemia, Cerebral atrophy, My...	OMIM:616878
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad...	OMIM:610475
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria	OMIM:620010
Ddost-Cdg	Nephrotic range proteinuria, Failure to thrive, Primary hypothyroidism	ORPHA:300536
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Renal tubular atrophy, Weight loss, Hypogonadism, Nephrotic syndrom...	ORPHA:85450
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Obesity, Truncal obesity	OMIM:618363
Chromosome 22Q13 Duplication Syndrome	Impulsivity, Attention deficit hyperactivity disorder, Polyphagia	OMIM:615538
Cockayne Syndrome Type 3	Retinal hemorrhage, Abnormality of peripheral nerve conduction, Brain atrophy, Urinary retention,...	ORPHA:90324
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Hyperactivity, Global brain atrophy, Optic atrophy, Retinal degeneration, C...	OMIM:234200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial nephritis, Renal tubular atrophy, Cerebral cortical atrophy, Stage 5 chronic k...	OMIM:174000
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Cerebral cortical atrophy, Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospad...	OMIM:619428
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria	OMIM:261100
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:307500
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Optic nerve dysplasia, Obesity, Cerebral atrophy	OMIM:617296
Cohen Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Delayed puberty, Obe...	ORPHA:193
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria	ORPHA:2668
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Cachexia, Proteinuria	ORPHA:2774
Gitelman Syndrome	Parathyroid adenoma, Graves disease, Glucose intolerance, Decreased urinary potassium, Polydipsia...	ORPHA:358
Kleefstra Syndrome Due To 9Q34 Microdeletion	Vesicoureteral reflux, Cerebral cortical atrophy, Subcortical cerebral atrophy, Hypoplasia of pen...	ORPHA:96147
Dent Disease 1	Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly...	OMIM:300009
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT...	OMIM:219080
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria...	OMIM:612925
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Macular degeneration, Abnormal fundus morphology, Failure to thrive, Cer...	ORPHA:94147
Knobloch Syndrome	Patent ductus arteriosus, Vesicoureteral reflux, Bifid ureter, Macular degeneration, Vitreoretino...	ORPHA:1571
19P13.12 Microdeletion Syndrome	Hypothyroidism, Hyperactivity, Precocious puberty, Hypospadias, Obesity	ORPHA:254346
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Large...	OMIM:600501
Acute Monoblastic/Monocytic Leukemia	Central hypothyroidism, Oliguria, Weight loss	ORPHA:514
Joubert Syndrome 39	Retinal dystrophy, Polycystic kidney dysplasia, Overweight	OMIM:619562
Pyruvate Dehydrogenase E2 Deficiency	Retinal degeneration, Neurodegeneration	ORPHA:79244
Thyrotoxic Periodic Paralysis	Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis with toxic multi...	ORPHA:79102
Rett Syndrome	Failure to thrive, Abnormal autonomic nervous system physiology, Increased serum leptin, Agitation	ORPHA:778
Cockayne Syndrome Type 1	Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory responses, M...	ORPHA:90321
Perrault Syndrome 4	Decreased serum estradiol, Disproportionate tall stature, Increased circulating gonadotropin leve...	OMIM:615300
Microscopic Polyangiitis	Glomerulopathy, Hematuria, Oliguria, Renal insufficiency, Abnormal retinal vascular morphology	ORPHA:727
Osteopetrosis With Renal Tubular Acidosis	Abnormal retinal morphology, Renal tubular acidosis, Optic atrophy, Cranial nerve compression, Re...	ORPHA:2785
Infant Botulism	Hyponatremia	ORPHA:178478
Glycogen Storage Disease Ib	Lipemia retinalis, Enlarged kidney, Delayed puberty, Hypoglycemia, Decreased glomerular filtratio...	OMIM:232220
Clark-Baraitser syndrome	Obesity, Tall stature	OMIM:300602
Leber Congenital Amaurosis 15	Peripapillary atrophy, Dull foveal reflex, Retinal degeneration, Attenuation of retinal blood ves...	OMIM:613843
Atkin-Flaitz Syndrome	Obesity	ORPHA:1193
Mucopolysaccharidosis Type 3	Hyperactivity, Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Central nervous system de...	ORPHA:581
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Obesity, Restlessness	OMIM:300055
Pde4D Haploinsufficiency Syndrome	Elevated circulating parathyroid hormone level, Hypospadias, Obesity	ORPHA:439822
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis	OMIM:618913
Frasier Syndrome	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:136680
Down Syndrome	Hypothyroidism, Renal hypoplasia/aplasia, Aganglionic megacolon, Type II diabetes mellitus, Obesity	ORPHA:870
Mucolipidosis Iii Alpha/Beta	Retinal degeneration, Retinopathy	OMIM:252600
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration	ORPHA:542306
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Micropenis, Hypogonadism, Truncal obesity	ORPHA:3041
White-Sutton Syndrome	Hyperactivity, Rod-cone dystrophy, Cerebral cortical atrophy, Subcortical cerebral atrophy, Optic...	ORPHA:468678
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abdominal o...	OMIM:618160
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Short Stature, Microcephaly, And Endocrine Dysfunction	Hypothyroidism, Cerebellar vermis atrophy, Insulin resistance, Unilateral renal agenesis, Ectopic...	OMIM:616541
Bietti Crystalline Corneoretinal Dystrophy	Retinal degeneration, Chorioretinal atrophy	OMIM:210370
Atkin-Flaitz Syndrome	Obesity, Tall stature	OMIM:300431
Galloway-Mowat Syndrome 7	Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn...	OMIM:618348
Systemic Capillary Leak Syndrome	Abnormal renal tubule morphology, Renal insufficiency, Oliguria, Weight loss	ORPHA:188
Marbach-Schaaf Neurodevelopmental Syndrome	Obesity, Enuresis nocturna, Attention deficit hyperactivity disorder	OMIM:619680
Late-Onset Isolated Acth Deficiency	Hyperuricemia, Hyperkalemia, Hypercalcemia, Hyponatremia	ORPHA:199299
Donnai-Barrow Syndrome	Retinal dystrophy, Non-acidotic proximal tubulopathy, Proteinuria, Retinal detachment	OMIM:222448
Müllerian Aplasia And Hyperandrogenism	Obesity, Increased serum testosterone level, Renal agenesis	ORPHA:247768
Congenital Disorder Of Glycosylation, Type Ia	Hypothyroidism, Proximal tubulopathy, Rod-cone dystrophy, Nephrotic syndrome, Renal cyst, Failure...	OMIM:212065
Cushing Disease	Pituitary corticotropic cell adenoma, Optic nerve compression, Increased circulating cortisol lev...	ORPHA:96253
Genetic Recurrent Myoglobinuria	Acute kidney injury, Exercise-induced myoglobinuria, Oliguria, Renal insufficiency, Dark urine, R...	ORPHA:99845
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Precocious puberty, Cerebellar vermis atrophy, Abnormal neuron morphology, Obesity	ORPHA:163681
Autosomal Dominant Cerebellar Ataxia	Retinal degeneration, Macular degeneration, Pseudobulbar paralysis, Pigmentary retinopathy	ORPHA:99
Congenital Nephrotic Syndrome, Finnish Type	Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome	ORPHA:839
Macrocephaly/Autism Syndrome	Overgrowth, Obesity, Large for gestational age, Penile freckling	OMIM:605309
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Diabetes mellitus, Nephropathy, Renal artery stenosis, Proteinuria	OMIM:209010
Retinitis Pigmentosa And Erythrocytic Microcytosis	Retinal pigment epithelial atrophy, Retinal atrophy, Epiretinal membrane, Photoreceptor layer los...	OMIM:616959
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Obesity, Tall stature	OMIM:618430
Cone-Rod Dystrophy And Hearing Loss 1	Retinal atrophy, Macular degeneration	OMIM:617236
Necrotizing Enterocolitis	Hyponatremia	ORPHA:391673
Denys-Drash Syndrome	Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome	ORPHA:220
Schimke Immuno-Osseous Dysplasia	Nephrotic range proteinuria, Abnormality of thyroid physiology, Small for gestational age, Stage ...	ORPHA:1830
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Obesity	OMIM:600430
Pierson Syndrome	Retinal hemorrhage, Nephrotic syndrome, Stage 5 chronic kidney disease, Macular hypoplasia, Retin...	OMIM:609049
Akt2-Related Familial Partial Lipodystrophy	Decreased serum leptin, Decreased adiponectin level, Insulin resistance, Insulin-resistant diabet...	ORPHA:79085
Galloway-Mowat Syndrome 1	Optic atrophy, Nephrotic syndrome, Small for gestational age, Diffuse mesangial sclerosis, Protei...	OMIM:251300
Insulin-Like Growth Factor I, Resistance To	Decreased body weight, Agitation, Diabetes mellitus, Increased circulating insulin-like growth fa...	OMIM:270450
Radio-Tartaglia Syndrome	Precocious puberty, Impulsivity, Attention deficit hyperactivity disorder, Dysphagia, Obesity	OMIM:619312
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Mirage Syndrome	Hyperkalemia, Hyponatremia	OMIM:617053
Kniest Dysplasia	Lattice retinal degeneration, Rhegmatogenous retinal detachment, Vitreoretinopathy, Degenerative ...	ORPHA:485
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria	OMIM:612926
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaciduria, Low-mole...	OMIM:134600
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Obesity	OMIM:619854
Hemorrhagic Fever-Renal Syndrome	Tubulointerstitial nephritis, Anuria, Decreased body weight, Acute tubulointerstitial nephritis, ...	ORPHA:340
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hypothyroidism, 3-Methylglutaconic aciduria, Optic atrophy, Ketonuria, Myoglobinuria	OMIM:251900
Legionnaires Disease	Hyponatremia	ORPHA:549
Zika Virus Disease	Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atrophy, Optic disc ...	ORPHA:448237
Hereditary Renal Hypouricemia	Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype...	ORPHA:94088
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:90791
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
13Q12.3 Microdeletion Syndrome	Failure to thrive, Hyperactivity, Obesity	ORPHA:412035
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria	OMIM:612924
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Hypogonadism, Cachexia, Hypoplasia of penis, Obesity	ORPHA:85293
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Obesity	ORPHA:93952
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Retinal degeneration, Cerebral cortical atrophy, Corpus callosum atrophy	OMIM:248500
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Renal amyloidosis, Glomer...	ORPHA:439232
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Choroidal neovascularization, Cystoid macular edema, Mild proteinuria, Renal inter...	ORPHA:91500
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Hypospadias, Cerebral cortical atrophy, Truncal obesity	ORPHA:3224
Porphyria Variegata	Abnormal circulating porphyrin concentration, Hyponatremia	ORPHA:79473
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
Alport Syndrome 2, Autosomal Recessive	Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem...	OMIM:203780
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, ...	ORPHA:228302
Familial Glucocorticoid Deficiency	Hyperkalemia, Hyponatremia	ORPHA:361
Acrodysostosis With Multiple Hormone Resistance	Hyperactivity, Decreased response to growth hormone stimulation test, Low urinary cyclic AMP resp...	ORPHA:280651
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Weight loss, Hypospadias, Attention deficit hyperactivity disorder, Obe...	ORPHA:251071
Hypothyroidism, Central, With Testicular Enlargement	Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop...	OMIM:300888
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Proteinuria, Type I diabetes mellitus	ORPHA:69126
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel...	OMIM:615830
Whipple Disease	Hyponatremia	ORPHA:3452
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Obesity, Attention deficit hyperactivity disorder, Multicystic kidney dysplasia	ORPHA:261197
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of penis, Hypogonadism, Truncal obesity	ORPHA:127
Distal Monosomy 12Q	Patent ductus arteriosus, Vesicoureteral reflux, Hyperactivity, Polycystic kidney dysplasia, Pitu...	ORPHA:96149
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Obesity, Optic atrophy	OMIM:618493
Pheochromocytoma	Pheochromocytoma, Renal artery stenosis, Hypertensive retinopathy, Elevated urinary norepinephrin...	OMIM:171300
X-Linked Intellectual Disability, Stevenson Type	Obesity, Tall stature	ORPHA:85325
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level	OMIM:615238
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Patent ductus arteriosus, Global brain atrophy, Precocious puberty, Congenital megaureter, Renal ...	ORPHA:369837
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Hyponatremia	ORPHA:90790
Estrogen Resistance Syndrome	Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal circulating hormone concentr...	ORPHA:785
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypocalcemia, Hypokalemia, Hyponatremia	OMIM:617913
Carpenter Syndrome	Patent ductus arteriosus, Obesity	ORPHA:65759
Kleefstra Syndrome	Vesicoureteral reflux, Cerebral cortical atrophy, Hypoplasia of penis, Renal cyst, Hypospadias, R...	ORPHA:261494
Ethylene Glycol Poisoning	Decreased urine output, Renal tubular epithelial necrosis, Hematuria, Renal insufficiency, Alcoho...	ORPHA:31826
Beckwith-Wiedemann Syndrome	Nephroblastoma, Hypothyroidism, Vesicoureteral reflux, Congenital megaureter, Adrenocortical carc...	ORPHA:116
Renal Dysplasia	Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ...	ORPHA:93108
2Q37 Microdeletion Syndrome	Nephroblastoma, Obesity, Attention deficit hyperactivity disorder, Multicystic kidney dysplasia	ORPHA:1001
9Q31.1Q31.3 Microdeletion Syndrome	Type II diabetes mellitus, Overweight, Renovascular hypertension	ORPHA:401923
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Hypothyroidism, Small for gestational age, Failure to thrive, Hypospadias, Mild proteinuria, Rena...	OMIM:619147
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Dysphagia, Dark urine, Recurrent myoglobinur...	ORPHA:368
Lcat Deficiency	Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi...	ORPHA:650
Pearson Syndrome	Hypothyroidism, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Sma...	ORPHA:699
Alagille Syndrome 2	Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria	OMIM:610205
Acute Adrenal Insufficiency	Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia	ORPHA:95409
Kallmann Syndrome	Anterior hypopituitarism, Hypothalamic gonadotropin-releasing hormone deficiency, Hypoplasia of p...	ORPHA:478
Schimke Immunoosseous Dysplasia	Elevated circulating thyroid-stimulating hormone concentration, Nephrotic syndrome, Small for ges...	OMIM:242900
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Micropenis, Horseshoe kidney, Increased body weight	OMIM:300860
Leigh Syndrome With Nephrotic Syndrome	Tubulointerstitial nephritis, Undetectable visual evoked potentials, Renal tubular acidosis, Neph...	ORPHA:255249
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cerebellar cortical atrophy, Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia, Hypoplasia...	OMIM:619321
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract	Retinal atrophy	OMIM:616722
Angelman Syndrome Due To A Point Mutation	Abnormal eating behavior, Obesity, Dysphagia	ORPHA:411511
Abdominal Obesity-Metabolic Syndrome 4	Type II diabetes mellitus, Obesity	OMIM:618620
Lymphedema-Distichiasis Syndrome	Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Patent ductus arteriosus, Recurr...	ORPHA:33001
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Hyperuricosuria, Weight loss, Stage 5 chronic kidney disease, Renal sodi...	ORPHA:3337
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Patent ductus arteriosus, Brain atrophy, Optic atrophy, Nephrotic syndrome, Enlarged kidney, Abno...	ORPHA:505248
Alport Syndrome 3, Autosomal Dominant	Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem...	OMIM:104200
Majeed Syndrome	Glomerulopathy, Weight loss, Cachexia, Failure to thrive, Proteinuria, Microscopic hematuria	ORPHA:77297
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Renal insufficiency, Proteinuria	OMIM:134610
Lipe-Related Familial Partial Lipodystrophy	Decreased serum leptin, Decreased adiponectin level, Insulin resistance, Insulin-resistant diabet...	ORPHA:435660
Distal Renal Tubular Acidosis	Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c...	ORPHA:18
X-Linked Intellectual Disability, Shashi Type	Obesity	ORPHA:85286
Myh9-Related Disease	Nephropathy, Renal insufficiency, Nephritis, Proteinuria	ORPHA:182050
Alg12-Cdg	Hypocholesterolemia, Hypoalbuminemia, Hyponatremia	ORPHA:79324
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Nephrotic syndrome, Nephropathy, Proteinuria, Dysphagia, Cerebellar atrophy, Rena...	OMIM:254900
Kohlschutter-Tonz Syndrome-Like	Global brain atrophy, Decreased body weight, Recurrent urinary tract infections, Agitation, Overw...	OMIM:619229
Fabry Disease	Abnormal autonomic nervous system physiology, Delayed puberty, Urinary mulberry cells, Proteinuri...	OMIM:301500
Eosinophilic Granulomatosis With Polyangiitis	Tubulointerstitial nephritis, Glomerulopathy, Weight loss, Hematuria, Central nervous system dege...	ORPHA:183
Shox-Related Short Stature	Obesity	ORPHA:314795
Renal Nutcracker Syndrome	Weight loss, Abnormal autonomic nervous system physiology, Hematuria, Renal artery stenosis, Orth...	ORPHA:71273
Friedreich Ataxia	Optic atrophy, Decreased amplitude of sensory action potentials, Decreased sensory nerve conducti...	OMIM:229300
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Vitreous floaters, Abnormal chorioretinal morphology, Vitritis	OMIM:605808
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoketotic hypoglycemia, Hepatic necrosis, Dicarboxylic aciduria, Hypoglycemic seizures, Myoglob...	OMIM:231530
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Obesity	OMIM:619056
Hemochromatosis, Type 4	Diabetes mellitus, Glucose intolerance, Impaired glucose tolerance	OMIM:606069
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Rod-cone dystrophy, Macular atrophy, Optic disc pallor	OMIM:615434
Chromosome 3Q29 Duplication Syndrome	Obesity	OMIM:611936
Proximal Renal Tubular Acidosis	Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ...	ORPHA:47159
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormality of retin...	ORPHA:85167
Kleefstra Syndrome 1	Hypospadias, Obesity, Abnormal renal morphology, Micropenis	OMIM:610253
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Renal insufficiency, Myoglobinuria	OMIM:255110
Tatton-Brown-Rahman Syndrome	Patent ductus arteriosus, Obesity, Neuroendocrine neoplasm, Proportionate tall stature	ORPHA:404443
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Abnormal eating behavior, Hyperactivity, Obesity, Dysphagia	ORPHA:98794
Galloway-Mowat Syndrome 3	Nephrotic syndrome, Stage 5 chronic kidney disease, Glomerular sclerosis, Failure to thrive, Diff...	OMIM:617729
Adenohypophysitis	Hyponatremia	ORPHA:95512
Cidec-Related Familial Partial Lipodystrophy	Decreased serum leptin, Decreased adiponectin level, Insulin-resistant diabetes mellitus	ORPHA:435651
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma	OMIM:212550
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Weight loss, Stage 5 chronic kidney disease, Hematuria, Failure to thrive, Nephropathy, Dysphagia...	ORPHA:1018
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo...	ORPHA:90038
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Obesity	ORPHA:2180
Xp22.13P22.2 Duplication Syndrome	Attention deficit hyperactivity disorder, Truncal obesity	ORPHA:284180
Bohring-Opitz Syndrome	Nephroblastoma, Optic atrophy, Urinary retention, Retinal atrophy, Severe failure to thrive	ORPHA:97297
Thauvin-Robinet-Faivre Syndrome	Nephroblastoma, Bifid ureter, Renal dysplasia, Renal malrotation, Large for gestational age, Rena...	OMIM:617107
Congenital Myopathy 9A	Obesity	OMIM:618822
Simple Cryoglobulinemia	Weight loss, Nephrotic syndrome, Abnormality of the kidney, Membranoproliferative glomerulonephri...	ORPHA:91139
Combined Oxidative Phosphorylation Deficiency 15	Obesity, Optic atrophy, Optic disc pallor	OMIM:614947
Gaisböck Syndrome	Hypernatriuria, Increased circulating renin level, Diabetes mellitus, Overweight, Nephrocalcinosi...	ORPHA:90041
Glycogen Storage Disease X	Renal insufficiency, Myoglobinuria	OMIM:261670
Cockayne Syndrome B	Pigmentary retinopathy, Optic atrophy, Small for gestational age, Abnormal auditory evoked potent...	OMIM:133540
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Obesity, Atrophy/Degeneration affecting the brainstem	OMIM:616267
Fanconi Renotubular Syndrome 3	Glycosuria, Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria	OMIM:615605
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Failure to thrive, Glucose intolerance, Impaired glucose tolerance	OMIM:614407
Dysbetalipoproteinemia	Renal steatosis, Hypothyroidism, Obesity, Diabetes mellitus	ORPHA:412
Panhypophysitis	Hyponatremia	ORPHA:95513
Diffuse Alveolar Hemorrhage	Proteinuria, Hematuria, Weight loss	ORPHA:90060
Bloom Syndrome	Nephroblastoma, Retinopathy, Recurrent urinary tract infections, Small for gestational age, Insul...	ORPHA:125
Alport Syndrome 1, X-Linked	Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep...	OMIM:301050
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Hyponatremia	OMIM:201810
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Renal tubular acidosis, Failure to thrive, Delayed puberty, Hypoglycemia, Fasting hypoglycemia, M...	ORPHA:264580
Pituitary Apoplexy	Hyponatremia	ORPHA:95613
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria	OMIM:160010
Glycogen Storage Disease Xi	Renal insufficiency, Myoglobinuria	OMIM:612933
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance	OMIM:145750
Hyperlipoproteinemia, Type Iv	Hypopituitarism, Glucose intolerance	OMIM:144600
Carnitine-Acylcarnitine Translocase Deficiency	Hypoketotic hypoglycemia, Fasting hypoglycemia, Dicarboxylic aciduria, Oliguria	ORPHA:159
Hepatocellular Carcinoma	Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia	ORPHA:88673
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis...	OMIM:300554
Low Phospholipid-Associated Cholelithiasis	Diabetes mellitus, Obesity, Overweight	ORPHA:69663
Angelman Syndrome	Hyperactivity, Obesity, Cerebral cortical atrophy	OMIM:105830
Sotos Syndrome	Patent ductus arteriosus, Abnormality of the kidney, Neonatal hypoglycemia, Overgrowth, Attention...	OMIM:117550
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration	OMIM:610505
Peripartum Cardiomyopathy	Diabetes mellitus, Obesity, Abnormality of thyroid physiology	ORPHA:563
Bartter Syndrome Type 4	Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, Hypomagnesemia	ORPHA:89938
Shigellosis	Abnormal blood ion concentration, Hyponatremia	ORPHA:810
Holoprosencephaly	Diabetes insipidus, Retinopathy, Optic atrophy, Anterior hypopituitarism, Hypoplasia of penis, Pa...	ORPHA:2162
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Rod-cone dystrophy, Renal dysplasia, Stage 5 chronic kidney disease, Acute kidney injury, Macular...	OMIM:266920
Japanese Encephalitis	Hyponatremia	ORPHA:79139
Kabuki Syndrome	Precocious puberty, Crossed fused renal ectopia, Cerebral cortical atrophy, Renal hypoplasia/apla...	ORPHA:2322
Granulomatosis With Polyangiitis	Diabetes insipidus, Glomerulopathy, Retinopathy, Weight loss, Hematuria, Ureteral stenosis, Prote...	ORPHA:900
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Oliguria, Dysphagia	ORPHA:220393
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating aldosterone level, Optic atrophy, Adrenal insufficiency, Abnormal autonomic...	OMIM:231550
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Failure to thrive, Aminoaciduria, Large for gestational age, Ketonuria	OMIM:614520
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Obesity, Cerebral atrophy	OMIM:618443
Early-Onset Schizophrenia	Addictive behavior, Restlessness, Attention deficit hyperactivity disorder, Polyphagia	ORPHA:96369
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyperkalemia, Hyponatremia	ORPHA:293978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Renal dysplasia, Retinal atrophy, Optic nerve hypoplasia, Retinal dysplasia, Retin...	OMIM:236670
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Type II diabetes mellitus, Abdominal obesity, Truncal obesity	OMIM:615812
Monosomy 13Q34	Obesity, Insulin resistance, Fetal pyelectasis	ORPHA:96168
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Renal tubular acidosis, Ketotic hypoglycemia, Recurrent hypoglycemia, Fasting hypoglycemia, Myogl...	ORPHA:79240
Lassa Fever	Oliguria, Dysphagia	ORPHA:99824
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Obesity	OMIM:615418
Adiposis Dolorosa	Hypothyroidism, Obesity	ORPHA:36397
Addison Disease	Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia	ORPHA:85138
Duplication Of Urethra	Vesicoureteral reflux, Urinary incontinence, Penile hypospadias, Anuria, Recurrent urinary tract ...	ORPHA:237
Pseudoxanthoma Elasticum, Forme Fruste	Retinal hemorrhage, Macular degeneration, Angioid streaks of the fundus	OMIM:177850
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Increased circulating renin level, Hyperkalemia, Abnormal circulating cholesterol concentration, ...	ORPHA:168558
Familial Dysautonomia	Hyponatremia	ORPHA:1764
Mucopolysaccharidosis Type 2	Hyperactivity, Retinopathy, Abnormal foveal morphology, Optic atrophy, Retinal degeneration, Abno...	ORPHA:580
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Increased circulating renin level, Hyperkalemia, Abnormal circulating cholesterol concentration, ...	ORPHA:289548
Trichothiodystrophy	Retinal degeneration, Macular degeneration, Cerebral cortical atrophy, Diffuse cerebellar atrophy	ORPHA:33364
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia	ORPHA:167
Cryoglobulinemia, Familial Mixed	Proteinuria, Hematuria, Abnormal renal physiology, Chronic kidney disease	OMIM:123550
Farber Disease	Failure to thrive, Macular degeneration, Brain atrophy, Cherry red spot of the macula	ORPHA:333
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Decreased urine output	ORPHA:542323
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Attention deficit hyperactivity disorder, Abdominal obesity, Disproportionate tall stature	OMIM:301039
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:601777
Sepsis In Premature Infants	Small for gestational age, Reversible renal failure, Decreased body weight, Oliguria	ORPHA:90051
Desbuquois Dysplasia 1	Obesity	OMIM:251450
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Dilatation of renal calices, Truncal obesity, Attention deficit hyperactivity disorder, Pelvic ki...	ORPHA:466950
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hydronephrosis, Large for gestational age, Duplicated collecting system, Ureteropelvic junction o...	OMIM:280000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Hypoketotic hypoglycemia, Obesity, Overweight	ORPHA:26793
22Q11.2 Deletion Syndrome	Patent ductus arteriosus, Hypothyroidism, Vesicoureteral reflux, Hyperthyroidism, Hypoplasia of t...	ORPHA:567
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Renal insufficiency, Myoglobinuria	ORPHA:2364
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia, Hyponatremia	ORPHA:275761
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Impaired glucose tolerance, Failure to thrive, Cerebellar atrophy, Glucose intolerance, Facial palsy	OMIM:610131
Williams-Beuren Syndrome	Hypothyroidism, Retinal arteriolar tortuosity, Glucose intolerance, Vesicoureteral reflux, Urethr...	OMIM:194050
Pauci-Immune Glomerulonephritis	Nephrotic range proteinuria, Tubulointerstitial nephritis, Acute kidney injury, Glomerular sclero...	ORPHA:93126
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Tubulointerstitial nephritis, Proteinuria, Hematuria	OMIM:616901
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Patent ductus arteriosus, Vesicoureteral reflux, Hyperactivity, Retinopathy, Recurrent urinary tr...	ORPHA:353281
Acute Intermittent Porphyria	Hyponatremia	ORPHA:79276
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Optic disc coloboma, Recurrent urinary tract infections, Failure to thrive, Pseudohypoparathyroid...	OMIM:617157
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Aromatase Deficiency	Type II diabetes mellitus, Insulin resistance, Eunuchoid habitus, Hypergonadotropic hypogonadism,...	ORPHA:91
Ulnar-Mammary Syndrome	Renal hypoplasia, Delayed puberty, Obesity, Hypoplasia of penis	ORPHA:3138
Oculocerebrorenal Syndrome Of Lowe	Diabetes insipidus, Hyperaldosteronism, Aminoaciduria, Glomerulopathy, Abnormal renal tubule morp...	ORPHA:534
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ...	ORPHA:226307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hypoplasia of the retina, Optic atrophy, Retinal atrophy, Retinal degeneration, Retinal dysplasia...	OMIM:253280
White-Kernohan Syndrome	Hypothyroidism, Hydroureter, Attention deficit hyperactivity disorder, Horseshoe kidney, Obesity,...	OMIM:619426
Carnitine Palmitoyltransferase Ii Deficiency	Tubulointerstitial nephritis, Hypoketotic hypoglycemia, Stage 5 chronic kidney disease, Polycysti...	ORPHA:157
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria	OMIM:268200
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia	OMIM:618426
Pediatric Systemic Lupus Erythematosus	Nephrotic syndrome, Hematuria, Nephritis, Proteinuria, Abnormality of the urinary system, Renal i...	ORPHA:93552
Wilson Disease	Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Increased urinary copper...	OMIM:277900
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Hematuria, Proteinuria	ORPHA:1765
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Renal insufficiency, Proteinuria	ORPHA:1307
45,X/46,Xy Mixed Gonadal Dysgenesis	Urogenital sinus anomaly, Hypothyroidism, Abnormality of the kidney, Epispadias, Increased circul...	ORPHA:1772
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria	ORPHA:91138
Cancer-Associated Retinopathy	Thymoma, Retinal pigment epithelial atrophy, Foveal hyporeflective spaces on macular OCT, Optic a...	ORPHA:71505
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Type II diabetes mellitus, Hypospadias, Precocious puberty, Truncal obesity	OMIM:210720
Renal Tubular Dysgenesis	Abnormality of the urinary system, Anuria, Renotubular dysgenesis	OMIM:267430
Heme Oxygenase 1 Deficiency	Proteinuria, Hematuria, Nephritis	OMIM:614034
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperinsulinemia, Stage 5 chronic kidney disease, Insulin-resistant diabetes mellitus, Hyperglyce...	OMIM:608612
Immunoglobulin A Vasculitis	Glomerulopathy, Optic atrophy, Hematuria, Proteinuria, Renal insufficiency	ORPHA:761
Infection-Related Hemolytic Uremic Syndrome	Nephrotic range proteinuria, Anuria, Acute kidney injury, Decreased urine output, Diabetes mellit...	ORPHA:544482
Estrogen Resistance	Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Glucose intolerance, Del...	OMIM:615363
Autosomal Dominant Progressive External Ophthalmoplegia	Hypothyroidism, Hyperthyroidism, Nocturia, Facial diplegia, Diabetes mellitus, Failure to thrive,...	ORPHA:254892
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Obesity	ORPHA:98855
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperactivity, Decreased body weight, Hematuria, Agitation, Failure to thrive, Delayed puberty, H...	OMIM:619475
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Insulin resistance, Insulin-resistant diabetes mellitus, Proteinuria	ORPHA:79086
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria	ORPHA:36412
Prader-Willi Syndrome Due To Translocation	Patent ductus arteriosus, Anterior pituitary hypoplasia, Decreased response to growth hormone sti...	ORPHA:177907
Glycogen Storage Disease V	Myoglobinuria, Dark urine	OMIM:232600
Resistance To Thyrotropin-Releasing Hormone Syndrome	Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c...	ORPHA:99832
Fabry Disease	Diabetes insipidus, Glomerulopathy, Optic atrophy, Nephrotic syndrome, Abnormal renal tubule morp...	ORPHA:324
X-Linked Emery-Dreifuss Muscular Dystrophy	Obesity	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Obesity	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Obesity	ORPHA:98853
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased serum leptin, Decreased adiponectin level, Insulin resistance, Diabetes mellitus	ORPHA:280365
Osteootohepatoenteric Syndrome	Failure to thrive, Proteinuria, Grade II vesicoureteral reflux, Weight loss	OMIM:619377
Hellp Syndrome	Acute kidney injury, Hemoglobinuria, Proteinuria, Increased body weight	ORPHA:244242
Hermansky-Pudlak Syndrome	Weight loss, Ocular albinism, Abnormal optic nerve morphology, Renal insufficiency, Abnormality o...	ORPHA:79430
Postinfectious Vasculitis	Weight loss, Hematuria, Membranoproliferative glomerulonephritis, Glomerulonephritis, Retinal vas...	ORPHA:48435
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Renal tubular acidosis, Failure to thrive, Delayed puberty, Fasting hypoglycemia, Myoglobinuria	ORPHA:370
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Tubulointerstitial nephritis, Hypoketotic hypoglycemia, Polycystic kidney dysplasia, Cystic renal...	ORPHA:228308
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Dilatation of renal calices, Attention deficit hyperactivity disorder, Pelvic kidney, Dysphagia, ...	ORPHA:466943
Vici Syndrome	Penile hypospadias, Ocular albinism, Macular hypoplasia, Macular atrophy, Abnormality of the thym...	OMIM:242840
Partial Deletion Of The Short Arm Of Chromosome 7	Patent ductus arteriosus after birth at term, Hypospadias, Obesity, Dysphagia	ORPHA:261911
Williams Syndrome	Hypothyroidism, Precocious puberty, Cerebral cortical atrophy, Retinal arteriolar tortuosity, Abn...	ORPHA:904
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Short Syndrome	Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia...	OMIM:269880
Lysinuric Protein Intolerance	Tubulointerstitial nephritis, Oral aversion, Hyperlysinuria, Decreased response to growth hormone...	ORPHA:470
Cornelia De Lange Syndrome 1	Vesicoureteral reflux, Optic atrophy, Renal cyst, Reduced renal corticomedullary differentiation,...	OMIM:122470
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Failure to thrive, Obesity, Enuresis, Abnormality of the pineal gland	ORPHA:369950
Cushing Syndrome Due To Ectopic Acth Secretion	Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Pa...	ORPHA:99889
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Brain atrophy, Glycosuria, Failure to thrive, Glucose intolerance, Renal tubular dysfunction	OMIM:616539
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Vesicoureteral reflux, Pelvic kidney, Obesity, Micropenis, Hydronephrosis	OMIM:618653
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypothyroidism, Stage 5 chronic kidney disease, Enlarged kidney, Thyroiditis, Failure to thrive, ...	ORPHA:79259
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Patent ductus arteriosus, Precocious puberty, Attention deficit hyperactivity disorder, Truncal o...	ORPHA:2637
Achondroplasia	Obesity	ORPHA:15
Imerslund-Gräsbeck Syndrome	Failure to thrive, Proteinuria, Weight loss	ORPHA:35858
Lujo Hemorrhagic Fever	Dysphagia, Renal insufficiency, Oliguria, Microscopic hematuria	ORPHA:319213
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Retinal coloboma, Renal malrotation, ...	ORPHA:500095
Renal Hypodysplasia/Aplasia 1	Proteinuria, Bilateral renal agenesis, Renal dysplasia	OMIM:191830
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria	ORPHA:98895
Renal Agenesis	Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena...	ORPHA:411709
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Vesicoureteral reflux, Hyperactivity, Hypogonadism, Optic atrophy, Hypospadias, Renal hypoplasia,...	OMIM:309580
17Q24.2 Microdeletion Syndrome	Vesicoureteral reflux, Patent ductus arteriosus after birth at term, Decreased response to growth...	ORPHA:529962
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hypoketotic hypoglycemia, Myoglobinuria, Red-brown urine	ORPHA:228305
Ohdo Syndrome	Proteinuria	OMIM:249620
X-Linked Sideroblastic Anemia	Glucose intolerance	ORPHA:75563
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Patent ductus arteriosus, Hypothyroidism, Vesicoureteral reflux, Decreased response to growth hor...	ORPHA:444077
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Retinal degeneration	OMIM:618479
Monosomy 22Q13.3	Vesicoureteral reflux, Hyperactivity, Cerebellar cortical atrophy, Renal dysplasia, Obesity, Recu...	ORPHA:48652
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Anuria	OMIM:235400
Turner Syndrome Due To Structural X Chromosome Anomalies	High urinary gonadotropin level, Hyperinsulinemia, Renal hypoplasia/aplasia, Type II diabetes mel...	ORPHA:99413
Mosaic Monosomy X	High urinary gonadotropin level, Hyperinsulinemia, Renal hypoplasia/aplasia, Type II diabetes mel...	ORPHA:99228
Monosomy X	High urinary gonadotropin level, Hyperinsulinemia, Renal hypoplasia/aplasia, Type II diabetes mel...	ORPHA:99226
Pseudo-Torch Syndrome 3	Acute kidney injury, Proteinuria	OMIM:618886
Turner Syndrome	High urinary gonadotropin level, Hyperinsulinemia, Renal hypoplasia/aplasia, Type II diabetes mel...	ORPHA:881
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Patent ductus arteriosus, Glomerulopathy, Proteinuria, Renal insufficiency, Microscopic hematuria	ORPHA:86818
Wilson Disease	Failure to thrive, Weight loss, Increased body weight	ORPHA:905
Lysinuric Protein Intolerance	Aminoaciduria, Stage 5 chronic kidney disease, Oroticaciduria, Failure to thrive, Truncal obesity	OMIM:222700
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Myoglobinuria	ORPHA:57
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Proteinuria, Abnormal renal physiology, Microscopic hematuria	OMIM:274150
Glycogen Storage Disease Ic	Hematuria, Delayed puberty, Hypoglycemia, Decreased glomerular filtration rate, Proteinuria, Rena...	OMIM:232240
Digeorge Syndrome	Patent ductus arteriosus, Hypothyroidism, Hypoplasia of the thymus, Renal insufficiency, Renal dy...	OMIM:188400
Galloway-Mowat Syndrome	Nephropathy, Proteinuria, Nephrotic syndrome	ORPHA:2065
Hemochromatosis, Type 1	Hypogonadotropic hypogonadism, Testicular atrophy, Glucose intolerance, Diabetes mellitus	OMIM:235200
Nail-Patella Syndrome	Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency	OMIM:161200
Agel Amyloidosis	Stage 5 chronic kidney disease, Proteinuria, Orthostatic hypotension due to autonomic dysfunction...	ORPHA:85448
Spondyloenchondrodysplasia	Hypothyroidism, Decreased response to growth hormone stimulation test, Hematuria, Proteinuria, Ch...	ORPHA:1855
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Patent ductus arteriosus, Anuria, Pyelonephritis, Megacystis, F...	OMIM:619351
Liver Disease, Severe Congenital	Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated circulating al...	OMIM:619991
Neutral Lipid Storage Disease With Ichthyosis	Obesity, Central nervous system degeneration	ORPHA:98907
Nestor-Guillermo Progeria Syndrome	Decreased serum leptin, Failure to thrive	OMIM:614008
Gaucher Disease	Retinopathy, Abnormal macular morphology, Hematuria, Delayed puberty, Dysphagia, Proteinuria, Che...	ORPHA:355
Aniridia 1	Retinal vascular tortuosity, Glucose intolerance, Optic nerve hypoplasia, Hypoplasia of the fovea...	OMIM:106210
Nail-Patella Syndrome	Nephrotic syndrome, Stage 5 chronic kidney disease, Abnormality of the kidney, Hematuria, Nephrit...	ORPHA:2614
Martin-Probst Syndrome	Hypothyroidism, Proteinuria, Renal insufficiency, Micropenis, Chordee	OMIM:300519
Say-Barber-Miller Syndrome	Rod-cone dystrophy, Macular degeneration, Optic atrophy, Hypogonadism	ORPHA:3132
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria, Facial palsy	ORPHA:206549
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperactivity, Obesity, Attention deficit hyperactivity disorder	OMIM:616078
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
3Q29 Microduplication Syndrome	Obesity	ORPHA:251038
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypoglycemia, Precocious puberty, Obesity	OMIM:301066
Congenital Analbuminemia	Small for gestational age, Obesity	ORPHA:86816
Perlman Syndrome	Nephroblastoma, Renal hamartoma, Large for gestational age, Hypoglycemia, Nephrogenic rest, Pancr...	OMIM:267000
Mandibuloacral Dysplasia	Hyperinsulinemia, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus	ORPHA:2457
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria	ORPHA:119
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Obesity	ORPHA:209902
Gaucher Disease Type 1	Delayed puberty, Hematuria, Proteinuria	ORPHA:77259
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hypochloremia, Hyperkalemia, Hyponatremia	ORPHA:90794
Autosomal Recessive Polycystic Kidney Disease	Increased serum bile acid concentration, Hyponatremia	ORPHA:731
Malakoplakia	Dysuria, Urinary urgency, Hematuria, Urinary bladder inflammation, Proteinuria, Urinary hesitancy	ORPHA:556
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Cerebellar atrophy, Mild proteinuria	OMIM:619685
Diamond-Blackfan Anemia 21	Obesity	OMIM:620072
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Multiple bladder diverticula	ORPHA:2728
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Glucose intolerance	OMIM:309620
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria	OMIM:145600
Microcephalic Primordial Dwarfism, Dauber Type	Obesity	ORPHA:319675
6Q Terminal Deletion Syndrome	Phimosis, Failure to thrive, Hypospadias, Obesity	ORPHA:75857
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Keppen-Lubinsky Syndrome	Decreased serum leptin, Failure to thrive	OMIM:614098
Desbuquois Dysplasia 2	Truncal obesity	OMIM:615777
Xylt1-Cdg	Truncal obesity	ORPHA:370930
Neutral Lipid Storage Myopathy	Pineal cyst, Diabetes mellitus, Obesity	ORPHA:98908
Paroxysmal Nocturnal Hemoglobinuria	Acute kidney injury, Hemoglobinuria, Glycosuria, Proteinuria, Hemosiderinuria, Dysphagia, Renal i...	ORPHA:447
Paroxysmal Cold Hemoglobinuria	Hemoglobinuria, Abnormal urinary color	ORPHA:90035
1P21.3 Microdeletion Syndrome	Obesity, Abnormal eating behavior	ORPHA:293948
Cocaine Intoxication	Tubulointerstitial nephritis, Acute kidney injury, Hematuria, Agitation, Glomerulonephritis, Prot...	ORPHA:90068
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Obesity	OMIM:250420
Lymphatic Filariasis	Nephrotic syndrome, Abnormality of the kidney, Hematuria, Glomerulonephritis, Proteinuria, Urethr...	ORPHA:2035
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Patent ductus arteriosus, Vesicoureteral reflux, Hyperactivity, Recurrent urinary tract infection...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Patent ductus arteriosus, Vesicoureteral reflux, Hyperactivity, Recurrent urinary tract infection...	ORPHA:353277
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion	ORPHA:289176
Witteveen-Kolk Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Microphallus, Small for ges...	OMIM:613406
Goodpasture Syndrome	Glomerular crescent formation, Weight loss, Glomerulonephritis, Erythrocyte cylindruria, Cylindru...	OMIM:233450
Rubinstein-Taybi Syndrome 1	Patent ductus arteriosus, Hyperactivity, Premature thelarche, Small for gestational age, Failure ...	OMIM:180849
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria	OMIM:255125
Cornelia De Lange Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Cerebral cortical atrophy, Hypoplasia of pen...	ORPHA:199
Crimean-Congo Hemorrhagic Fever	Retinal hemorrhage, Adrenal insufficiency, Hematuria, Agitation, Proteinuria, Inappropriate antid...	ORPHA:99827
Cardiogenic Shock	Oliguria	ORPHA:97292
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Stage 5 chronic kidney disease, Hyperphosphaturia, Proximal renal tubular acidosis...	OMIM:309000
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Cerebral cortical atrophy, Truncal obesity	OMIM:301072
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating renin level, Hyperkalemia, Hyponatremia	OMIM:201750
Myhre Syndrome	Small for gestational age, Obesity, Patent ductus arteriosus	OMIM:139210
Ataxia-Telangiectasia	Female hypogonadism, Hypoplasia of the thymus, Diabetes mellitus, Delayed puberty, Failure to thr...	OMIM:208900
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Pubertal developmental failure in females, Weight loss, Insulin resistance, ...	ORPHA:740
Aymé-Gripp Syndrome	Patent ductus arteriosus, Proteinuria, Cerebral cortical atrophy	ORPHA:1272
Familial Mediterranean Fever	Nephrocalcinosis, Nephropathy, Proteinuria, Nephrotic syndrome	ORPHA:342
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Ulnar-Mammary Syndrome	Anterior pituitary hypoplasia, Ectopic posterior pituitary, Delayed puberty, Obesity, Micropenis	OMIM:181450
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal tubular atrophy, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinuria, Ren...	OMIM:614748
Gaucher Disease Type 3	Delayed puberty, Hematuria, Proteinuria	ORPHA:77261
Pmm2-Cdg	Increased circulating prolactin concentration, Hyperinsulinemia, Elevated circulating thyroid-sti...	ORPHA:79318
Carpenter Syndrome 2	Patent ductus arteriosus, Obesity, Micropenis	OMIM:614976
Mandibuloacral Dysplasia Progeroid Syndrome	Proteinuria, Focal segmental glomerulosclerosis, Glucose intolerance	OMIM:619127
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis	ORPHA:2750
Carney Complex	Increased circulating prolactin concentration, Precocious puberty, Increased circulating cortisol...	ORPHA:1359
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, Cerebral atrophy, Proteinuria	OMIM:311200
Glycogen Storage Disease Xii	Hemoglobinuria, Delayed puberty	OMIM:611881
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria	OMIM:194380
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Hemoglobinuria	OMIM:300908
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Myoglobinuria	ORPHA:423
Relapsing Polychondritis	Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria	ORPHA:728
Primrose Syndrome	Hypothyroidism, Diabetes mellitus, Delayed puberty, Attention deficit hyperactivity disorder, Hyp...	OMIM:259050
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria	ORPHA:466650
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Proteinuria, Precocious puberty	OMIM:616682
Chronic Thromboembolic Pulmonary Hypertension	Obesity	ORPHA:70591
Yellow Fever	Acute kidney injury, Renal insufficiency, Anuria	ORPHA:99829
Tako-Tsubo Cardiomyopathy	Obesity	ORPHA:66529
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Patent ductus arteriosus, Failure to thrive, Truncal obesity	OMIM:612474
Kawasaki Disease	Sterile pyuria, Proteinuria	ORPHA:2331
Pallister-Killian Syndrome	Patent ductus arteriosus, Renal dysplasia, Renal cyst, Hypospadias, Obesity	OMIM:601803

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 Bbs10

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 Bbs10.

No publications found that use IMPC mice or data for Bbs10.

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MGI Allele	Allele Type	Produced
Bbs10^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Bbs10^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice
Bbs10^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Bbs10^{tm444900(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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Gene: Bbs10 MGI:1919019

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Sleep Wake

X-ray

Eye Morphology

Eye Morphology

X-ray

Adult LacZ

X-ray

Electroretinography 2

Auditory Brain Stem Response

Human diseases caused by Bbs10 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data