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Gene: Aqp2 MGI:1096865

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
aquaporin 2
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Aqp2 mutations

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

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

The table below shows human diseases associated to Aqp2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Failure to thrive, Polyhydramnios, A... ORPHA:223
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Polydipsia, Failure to thrive OMIM:125800

The table below shows human diseases predicted to be associated to Aqp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Danubian Endemic Familial Nephropathy
Nephropathy OMIM:124100
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Hutterite Cerebroosteonephrodysplasia Syndrome
Nephrotic syndrome OMIM:236450
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... OMIM:619468
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Well-Differentiated Liposarcoma
Abnormal renal physiology ORPHA:99971
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Polyuria OMIM:222100
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Nephrotic Syndrome, Type 6
Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm... OMIM:614196
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary... OMIM:616963
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Vomiting... OMIM:143880
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Central Diabetes Insipidus
Hyponatremia, Anorexia, Dehydration, Weight loss, Polydipsia, Failure to thrive, Nocturia ORPHA:178029
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia ORPHA:95626
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hyperammonemia, Dehydration, Failure to thrive, Anemia ORPHA:28
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... OMIM:236730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... OMIM:618314
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Edema, ... OMIM:602522
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
2p15-16.1 microdeletion syndrome
Feeding difficulties in infancy, Hydronephrosis DECIPHER:70
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Postnatal growth retardation, Nephrolithiasis, Feeding difficulties, Vesicoureteral ... OMIM:617219
Hereditary Coproporphyria
Hyponatremia, Dark urine, Small intestinal dysmotility, Abdominal pain, Abnormal circulating porp... ORPHA:79273
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis, Low posterior hairline ORPHA:1450
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Failure to thrive, Polyhydramnios, A... ORPHA:223
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Increased level of hippuric acid in urine, Elevate... OMIM:261600
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic ... OMIM:613845
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis, Feeding difficulties OMIM:618240
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Hydrourete... ORPHA:2970
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Joubert Syndrome 4
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... OMIM:609583
Senior-Loken Syndrome
Premature ovarian insufficiency, Short stature, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:3156
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Polydipsia, Failure to thrive OMIM:125800
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Polydipsia, Failure to thrive OMIM:304800
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612925
Macdermot-Winter Syndrome
Highly arched eyebrow, Low anterior hairline, Frontal upsweep of hair, Intrauterine growth retard... OMIM:247990
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Methylmalonic aciduria, Dehydration OMIM:614265
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Dehydration, Decreased c... ORPHA:79159
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612926
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Blue Diaper Syndrome
Hypercalcemia, Diarrhea, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia ORPHA:94086
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612924
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polydipsia, Polyuria OMIM:613677
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... OMIM:619113
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology OMIM:602114
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Anorexia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Dehydration, Neutr... ORPHA:79312
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Cystinosis
Renal insufficiency, Proteinuria, Dehydration, Renal tubular dysfunction, Aminoaciduria, Hypokale... ORPHA:213
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Purple urine, Abdominal pain, Abnormal circulating porphyrin concentration, Abdomin... ORPHA:100924
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Postnatal growth retardation, Elevated circulating creatinine concentr... OMIM:616733
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... ORPHA:84081
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Dehydration, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:602722
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Oliver-Mcfarlane Syndrome
Alopecia, Hypoplasia of penis, Small for gestational age, Severe short stature, Long eyebrows, Hy... OMIM:275400
Glycogen Storage Disease Iv
Failure to thrive, Polyhydramnios, Edema, Hydrops fetalis, Hepatosplenomegaly, Ascites, Tubuloint... OMIM:232500
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Renal Hypoplasia, Bilateral
Hyponatremia, Small for gestational age, Proteinuria, Microscopic hematuria, Short stature, Crypt... ORPHA:97362
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Abdominal pain, Mini... ORPHA:567548
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Polyhydramnios, Hypercalciuria, Hypochloremia, Hypokalemia, Increased cir... OMIM:300971
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Feeding difficulties, Ethylmalonic aciduria, In... ORPHA:26792
Nephronophthisis 15
Obesity, Nephronophthisis OMIM:614845
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention, Renal cyst, Increased total bilirubin OMIM:174050
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Lethargy, Uraciluria, Failure to thrive OMIM:274270
Tempi Syndrome
Transudative pleural effusion, Abnormality of the kidney, Facial erythema, Increased hematocrit, ... ORPHA:284227
Dihydropyrimidinase Deficiency
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Feed... OMIM:222748
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Intrauterine growth retardation, Ureteral dysgenesis, Renal agenesis OMIM:274265
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Lethargy, Hyperlysinemia OMIM:238750
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Cryptorchidism, Growth delay, Long eyelashes, Hypogonadism, ... ORPHA:3363
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat... OMIM:256300
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
X-Linked Intellectual Disability, Schimke Type
Failure to thrive in infancy, Short stature, Vesicoureteral reflux, Poor suck, Hydronephrosis, Ga... ORPHA:85285
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Juvenile Nephropathic Cystinosis
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri... ORPHA:411634
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia, Hypokalemia, Hypocal... OMIM:617671
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Dehydration, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic ac... OMIM:251120
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Hypercalciuria, Aminoacidur... OMIM:239200
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... OMIM:263200
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... OMIM:613496
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... ORPHA:320
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney, Short stature, Abdominal distention, Hyperlipidemia, Grow... ORPHA:369
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... ORPHA:368
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Methylmalonic aciduria, Deh... ORPHA:289504
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... OMIM:613673
Glycogen Storage Disease V
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:232600
Prune Belly Syndrome
Cryptorchidism, Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Elevated circulating C-reactive protein concentration, Retrograde ejaculation, Abdomina... ORPHA:49041
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Fatal liver failure in infancy, Lethargy ORPHA:254857
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Harderoporphyria
Increased urine harderoporphyrin level, Increased circulating ferritin concentration, Red urine, ... OMIM:618892
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cy... ORPHA:18
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder ORPHA:2547
Glucose-Galactose Malabsorption
Failure to thrive, Renal insufficiency, Hypercalcemia, Abdominal distention, Diarrhea, Malnutriti... ORPHA:35710
Interstitial Pneumonitis, Desquamative, Familial
Failure to thrive, Tubulointerstitial fibrosis OMIM:263000
Wiedemann-Steiner Syndrome
Failure to thrive, Short stature, Rhizomelia, Postnatal growth retardation, Synophrys, Feeding di... ORPHA:319182
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... OMIM:619386
Chronic Hiccup
Abnormal eating behavior, Dehydration, Weight loss ORPHA:396
Image Syndrome
Hypospadias, Cryptorchidism, Hypogonadism, Intrauterine growth retardation, Hydronephrosis ORPHA:85173
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Edema, Increased urinary potassium... OMIM:613090
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Abdominal pain, Minimal change glomerulone... ORPHA:656
Jeune Syndrome
Renal insufficiency, Short stature, Feeding difficulties in infancy, Nephronophthisis, Nephropathy ORPHA:474
Noonan Syndrome 9
Curly hair, Hydroureter, Short stature, Sparse eyebrow, Cryptorchidism OMIM:616559
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Short stature, Anorexia, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosi... OMIM:611590
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Growth delay, Dysphagia, Testicular atrophy, Hydronephrosis OMIM:222300
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin, Renal dysplasia OMIM:218650
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Conjugated hyperbilirubinemia, Postnatal growth retardation, Renal cyst, Abnormal ser... ORPHA:79303
Acquired Ichthyosis
Renal insufficiency, Erythema, Dry skin ORPHA:454
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, D... OMIM:251000
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal hair morphology, De... ORPHA:634
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Dehydration, Leukopenia... ORPHA:27
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Hydrops fetalis, Oligohydramnios, Nephropathy,... ORPHA:1909
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte... ORPHA:199343
Acute Intermittent Porphyria
Hyponatremia, Nausea and vomiting, Renal insufficiency, Dark urine, Urinary incontinence, Dysuria... ORPHA:79276
Bardet-Biedl Syndrome 9
Renal insufficiency, Polydipsia, Polyphagia OMIM:615986
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... OMIM:616217
Renal Tubular Dysgenesis
Polyhydramnios, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis, ... ORPHA:3033
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Elevated circulating branch... ORPHA:2394
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Dehydration, Renal tubular dysfuncti... ORPHA:69076
Lessel-Kubisch Syndrome
Renal insufficiency, Short stature, Sparse pubic hair, Renal hypoplasia, Premature graying of hai... OMIM:618681
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Alopecia, Anorexia, Hyperammonemia, Weight loss, Growth delay, Organic acidu... ORPHA:79242
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Dehydration, Abnormality of the urinary sys... ORPHA:99886
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Alopecia, Proteinuria, Abdominal pain, Abdominal distention, Dia... ORPHA:93552
Glycine Encephalopathy 1
Lethargy, Hyperglycinuria, Hyperglycinemia OMIM:605899
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Abnormal urinary color, Abdominal pain ORPHA:234
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, F... OMIM:203400
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria, Dehydration OMIM:602199
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... OMIM:235400
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Hyperbiliverdinemia
Elevated circulating biliverdin concentration, Decreased liver function, Green urine OMIM:614156
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, F... OMIM:610600
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Conjugated hyperbilirubinemia, Dehydration, Nephrocalcinosis, Renal tu... OMIM:208085
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:98895
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis OMIM:615994
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, Nephronophth... OMIM:616629
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig... OMIM:219800
Reticular Dysgenesis
Abnormality of neutrophils, Skin ulcer, Dehydration, Weight loss, Leukopenia, Failure to thrive, ... ORPHA:33355
Bardet-Biedl Syndrome 12
Hydroureter, Obesity, Cystic renal dysplasia, Hypogonadism, Hydronephrosis OMIM:615989
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Nausea and vomiting, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Growth delay... ORPHA:289916
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Renal sodium wasting, Polydi... OMIM:612780
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Aggressive behavior, Abnormal hair whorl, Synophrys, Increased body weight, Horseshoe kidney, Low... OMIM:300860
Cold Agglutinin Disease
Nausea and vomiting, Abnormal urinary color, Diarrhea ORPHA:56425
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Tubulointerstitial nephritis, Vomiting, Decrea... ORPHA:330015
Tuberculosis
Weight loss ORPHA:3389
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Cat-Eye Syndrome
Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Intrauterine growth ret... ORPHA:195
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... ORPHA:90041
Lamellar Ichthyosis
Renal insufficiency, Lack of skin elasticity, Dehydration, Sparse hair, Dry skin, Aplasia/Hypopla... ORPHA:313
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Poor ap... ORPHA:3467
Bardet-Biedl Syndrome 19
Renal insufficiency, Obesity, Renal hypoplasia, Hypogonadism, Hydronephrosis OMIM:615996
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Polyhydramnios, Renal salt wasting,... OMIM:241200
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, Methylmalonic ... OMIM:251110
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... ORPHA:228308
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Paronychia, Abnormal blood ion concentration, Renal cyst, Gastrointestinal in... ORPHA:79404
Omenn Syndrome
Alopecia, Failure to thrive, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Dry skin, Anemia, N... ORPHA:39041
Crandall Syndrome
Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal ... ORPHA:202
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Schistocytosis, Elevat... OMIM:274150
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Nephronophthisis
Renal insufficiency ORPHA:655
Mandibulofacial Dysostosis With Alopecia
Alopecia, Hydroureter, Sparse eyelashes OMIM:616367
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Thick eyebrow, Dilatation of renal calices, Synophrys, Obesity, Truncal obesity, Constipation, Ga... ORPHA:466950
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Failure to thrive OMIM:264350
Rudiger Syndrome
Micropenis, Ureterovesical stenosis, Hypoplastic fingernail OMIM:268650
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Proximal tubulopathy, Polyuria, Dehydration OMIM:560000
Pulmonary Blastoma
Weight loss ORPHA:64741
Glucose/Galactose Malabsorption
Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Glycosuria, Failure to thrive OMIM:606824
Propionic Acidemia
Pancytopenia, Increased level of hippuric acid in urine, Thrombocytopenia, Hyperglycinuria, Hyper... OMIM:606054
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria, Poor suck OMIM:615026
Chromosome 15Q25 Deletion Syndrome
Short stature, Cryptorchidism, Synophrys, Growth delay, Intrauterine growth retardation, Dilatati... OMIM:614294
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased circulating ren... OMIM:601678
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Ureteral stenosis, Large for gestational age, Hypercalciuria, Renal cyst, Nephrocalc... OMIM:615398
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Abdominal distention, Megacystis, Fetal megacystis, Hydronephrosis OMIM:619362
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia OMIM:615993
Glutaric Acidemia Type 3
Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta... ORPHA:35706
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Short stature, Unilateral renal agenesis, Cryptorchidism, Feeding diff... OMIM:609757
Beta-Ketothiolase Deficiency
Ketonuria, Edema, Anorexia, Leukocytosis, Hyperammonemia, Dehydration, Weight loss, Agitation, Pa... ORPHA:134
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... ORPHA:251004
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Elevated circulating creatine kinase concentration, Hyperammonemia, 3-Methylglutac... OMIM:618120
Fanconi-Bickel Syndrome
Failure to thrive, Hypertriglyceridemia, Hyperphosphaturia, Abdominal distention, Hypercalciuria,... ORPHA:2088
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Abnormal urinary color, Diarrhea, Hemoglobinuria ORPHA:90035
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Th... OMIM:251100
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Poor appetite, Postnatal growth retardat... OMIM:227810
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228305
Joubert Syndrome 15
Micropenis, Nephronophthisis OMIM:614464
Isolated Atp Synthase Deficiency
Short stature, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Hypogonadism, Hyper... ORPHA:254913
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Anorexia, Throm... OMIM:557000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Familial Cold Urticaria
Polydipsia, Erythema, Dehydration ORPHA:47045
Gitelman Syndrome
Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased ... OMIM:263800
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,... OMIM:236270
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis, Porphyrinuria OMIM:176100
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Hydronephrosis, In... OMIM:154230
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... ORPHA:439232
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Thomas Syndrome
Multicystic kidney dysplasia, Oligohydramnios, Renal hypoplasia/aplasia ORPHA:3316
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Increased total bilirubin ORPHA:90037
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Failure t... OMIM:619487
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Ketonuria, Alopecia, Hyperglycinuria, Hyperammonemia, Feeding difficulties,... OMIM:210210
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Small for gestational age, Abnormal medullary pyramid morphology, Feedi... ORPHA:79243
Tooth Agenesis, Selective, 8
Sparse eyebrow, Dry skin, Sparse hair OMIM:617073
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Dilatation of renal calices, Gastrointestinal dysmotility, Synophrys, Obesity, Feeding difficulti... ORPHA:466943
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Feeding difficulties in infancy, Abdominal distention, Vomiting, H... OMIM:300048
Hemolytic Anemia, Congenital, X-Linked
Dark urine OMIM:301015
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Multicystic kidney dysplasia, Hydroureter, Hypoperistalsis, Abdominal disten... ORPHA:2241
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Increased total bilirubin ORPHA:90036
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Short stature, Hyperlipidemia, Glycosuria, Lethargy, Failure to thrive ORPHA:2089
Hartnup Disease
Abnormal urinary color, Short stature, Neutral hyperaminoaciduria ORPHA:2116
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Methylmalonic aciduria, Hyperhomocysti... OMIM:614857
Distal Duplication 6P
Abnormal hair quantity, Abnormal eyelash morphology, Renal hypoplasia, Fine hair, Abnormality of ... ORPHA:1745
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Feeding difficulties in infancy, Vomiting, Elevated urinary 3-me... OMIM:210200
Isovaleric Acidemia
Pancytopenia, Hyperglycinuria, Dehydration, Leukopenia, Thrombocytopenia OMIM:243500
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Meckel Syndrome, Type 8
Abdominal distention, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... ORPHA:158684
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
8P23.1 Duplication Syndrome
Hydronephrosis, Highly arched eyebrow ORPHA:251076
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Protein avoidance, Hyperammonemia, Hyperornithinemia, Decreased liver function, Lethargy, Failure... OMIM:238970
Hereditary Fructose Intolerance
Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney disease, Hype... ORPHA:469
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss ORPHA:79238
Codas Syndrome
Hydroureter, Short stature ORPHA:1458
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Polyhydramnios, Oligohydramnios ORPHA:3032
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... OMIM:617056
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Short stature, Chronic kidney disease, Obesity, Nephronophthisis, Hepatic failure OMIM:615630
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Nephrotic syndrome ORPHA:69061
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis, Small nail OMIM:235760
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Wolcott-Rallison Syndrome
Hyponatremia, Renal insufficiency, Decreased body weight, Chronic kidney disease, Hyperammonemia,... ORPHA:1667
Adiposis Dolorosa
Abdominal distention, Constipation, Obesity, Depression OMIM:103200
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Renal sodium wasting,... ORPHA:556030
Congenital Myopathy 19
Cryptorchidism, Renal atrophy, Hydronephrosis, Dysphagia OMIM:618578
Familial Visceral Myopathy
Hydroureter, Abdominal distention, Megacystis, Vesicoureteral reflux, Anonychia ORPHA:2604
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Frontal upsweep of hair, Hydronephrosis, Feeding difficulties OMIM:619797
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg... OMIM:619365
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis, Lethargy, Feeding difficulties OMIM:617105
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Dehydration OMIM:601410
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Renal insufficiency, Elevated circulating C-reactive... ORPHA:160
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis ORPHA:568
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal corticomedullary ... OMIM:613159
Ellis Van Creveld Syndrome
Abnormal hair quantity, Hydroureter, Hypospadias, Abnormality of the kidney, Abnormal fingernail ... ORPHA:289
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina... ORPHA:42
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Diarrhea, Hyperammonem... OMIM:255120
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Elbow hypertrichosis, Aggressive behavior, Pica, Obesity, Organic aciduria, Long eyelashes, Dry skin OMIM:620191
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology, Dehydration ORPHA:2290
Meier-Gorlin Syndrome 8
Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Decreased body weight, Intra... OMIM:617564
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Urethral stricture, Abdominal distention, Urinary bladder inflammation, Hydr... ORPHA:79403
Familial Hypoaldosteronism
Hyponatremia, Nausea and vomiting, Renal salt wasting, Decreased urinary potassium, Diarrhea, Hyp... ORPHA:427
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Classic Mycosis Fungoides
Alopecia, Edema, Splenomegaly, Erythema, Dry skin, Skin ulcer, Abnormal lymphocyte morphology ORPHA:2584
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Glomerulopathy, Hemolytic-uremic syndrome, Postnatal growth retardation, Feedi... ORPHA:2169
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Unilateral renal agenesis, Methylmalonic aciduria, Feeding difficulties, Eleva... ORPHA:79284
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... OMIM:608836
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Abnormality of the upper urinary tract, Highly arched eyebrow, Feeding difficulties,... ORPHA:2995
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Bartter Syndrome Type 4
Hyponatremia, Failure to thrive, Small for gestational age, Polyhydramnios, Renal salt wasting, I... ORPHA:89938
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy, Aminoaciduria, Failure to thrive, Feeding difficulties OMIM:250620
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin, Abnormality of the ureter, Obesity ORPHA:1035
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma, Protuberant abdomen, Large for gestational age OMIM:618272
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Laterally extended eyebrow, Hydroureter, Thick eyebrow, Thick hair, Highly arched eyebrow, Short ... OMIM:610759
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Developmental And Epileptic Encephalopathy 40
Intrauterine growth retardation, Small for gestational age, Lethargy, Feeding difficulties OMIM:617065
Fanconi Anemia, Complementation Group O
Short stature, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronephrosis OMIM:613390
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hepatic failure, Megacystis, Hydronephrosis, Hydroureter OMIM:619431
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Increased blood ur... OMIM:617872
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Dehydr... OMIM:212140
Bresek Syndrome
Decreased testicular size, Hypoplasia of the bladder, Alopecia, Cryptorchidism, Renal hypoplasia,... ORPHA:85284
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Anasarca, Hyp... OMIM:618183
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Diarrhea, Elevated circulating creatinine concentration, Growth ... OMIM:223900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Ureterocele, Vesicoureteral reflux, Micropenis, Hypogonadotropic hypogonadism, Sparse eyebrow, Cr... OMIM:604292
Argininosuccinic Aciduria
Dry hair, Brittle hair, Feeding difficulties in infancy, Protein avoidance, Hyperglutaminemia, Or... OMIM:207900
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Trisomy 1Q
Multicystic kidney dysplasia, Hypoplastic toenails, Cryptorchidism, Congenital megaureter, Hydron... ORPHA:261344
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Weight loss ORPHA:100024
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Dry skin, Alopecia totalis, Facial erythema OMIM:212360
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive OMIM:612075
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Failure to thrive, Elevated circulating creatine kinase concentration, Unilateral r... OMIM:614576
Acrocephalopolydactyly
Abnormal renal morphology, Protuberant abdomen ORPHA:221054
Holocarboxylase Synthetase Deficiency
Alopecia, Feeding difficulties in infancy, Hyperammonemia, Organic aciduria, Vomiting, Elevated u... OMIM:253270
Ddost-Cdg
Failure to thrive, Dry skin, Nephrotic range proteinuria ORPHA:300536
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Highly arched eyebrow, Synophry... OMIM:618161
Joubert Syndrome 3
Highly arched eyebrow, Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Carpenter Syndrome 1
Hydroureter, Short stature, Cryptorchidism, Obesity, Hydronephrosis OMIM:201000
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Lacticaciduria, Feeding diffi... OMIM:605711
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Renal cyst OMIM:614870
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Erythema, Weight loss, Dry skin, Generalized hirsutism ORPHA:317
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp... OMIM:615751
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypercalciuria ORPHA:251274
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure... ORPHA:93929
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hypoplastic nipples,... ORPHA:2437
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Erdheim-Chester Disease
Renal insufficiency, Polydipsia, Dysuria, Weight loss, Joint swelling, Pleural effusion, Hydronep... ORPHA:35687
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Feeding difficulties, Renal tubular acidosis, ... OMIM:614922
Toxic Epidermal Necrolysis
Renal insufficiency, Dysuria, Abnormality of the urethra, Thrombocytopenia, Erythema, Skin ulcer,... ORPHA:537
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Small for gestational age, Short stature, Vesicoureteral ... OMIM:300707
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Oligohydramnios OMIM:615397
Joubert Syndrome 37
Decreased testicular size, Short stature, Cryptorchidism, Obesity, Sparse hair, Micropenis, Hydro... OMIM:619185
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive, Vomiting ORPHA:622
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive, Anorexia ORPHA:79283
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... OMIM:155310
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Increased urinary potassium ORPHA:231580
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Attrv30M Amyloidosis
Nephropathy, Abnormal renal physiology, Weight loss ORPHA:85447
Erythrocytosis, Familial, 2
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin OMIM:263400
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Abdominal distention, Gastrointestinal d... OMIM:613662
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Dicarboxylic aciduria, P... ORPHA:71212
Pallister-Hall Syndrome
Renal dysplasia, Decreased testicular size, Hydroureter, Short stature, Distal urethral duplicati... OMIM:146510
Severe Canavan Disease
Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Feeding difficulties, Gastroesoph... ORPHA:314911
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Edema, Anorexia, Leukocytosis, Hyperammonemia, Dehydration, Weight loss, Leukopenia, 3... ORPHA:20
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Renal insufficiency, Failure to thrive, Salt craving, Hypercalce... ORPHA:95409
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Polyhydramnios, Tubular luminal dilatation, Renal corticomedullary cysts, Hy... OMIM:219730
Rhyns Syndrome
Renal insufficiency, Chronic kidney disease, Short stature, Nephronophthisis OMIM:602152
Mirizzi Syndrome
Dark urine, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Hyperbilir... ORPHA:521219
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Paroxysmal Nocturnal Hemoglobinuria
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... ORPHA:447
Suleiman-El-Hattab Syndrome
Thick eyebrow, Highly arched eyebrow, Cryptorchidism, Synophrys, Feeding difficulties, Frontal hi... OMIM:618950
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati... OMIM:162000
Methylmalonic Acidemia With Homocystinuria
Lethargy, Failure to thrive, Feeding difficulties ORPHA:26
Peroxisome Biogenesis Disorder 14B
Dry skin, Urinary incontinence OMIM:614920
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Short stature, Hydronephrosis, Decreased body weight OMIM:618265
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Ureterocele, Sparse hair, Vesicoureteral reflux, Micropenis, Hypogonadotropic hypogonadism, Spars... OMIM:129900
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Recurrent urinary tract infections, Failure to thrive, Hydronephrosis, Gastro... OMIM:619218
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Squalene Synthase Deficiency
Hypospadias, Failure to thrive in infancy, Increased circulating farnesol concentration, Decrease... OMIM:618156
Maple Syrup Urine Disease
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... OMIM:248600
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Ulerythema Ophryogenesis
Dry skin, Facial erythema, Sparse lateral eyebrow ORPHA:3406
White-Kernohan Syndrome
Hydroureter, Synophrys, Broad medial eyebrow, Obesity, Horseshoe kidney, Gastroesophageal reflux,... OMIM:619426
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Long eyelashes, Polyhydramnios, Dehydration OMIM:616069
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... OMIM:616307
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, Growth delay, ... ORPHA:2083
Liver Failure, Infantile, Transient
Acute hepatic failure, 3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Feeding difficultie... OMIM:613070
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... ORPHA:103910
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Ketonuria, Hyperammonemia, Dehydration OMIM:615453
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Dehydration, Weight loss, Hypokalemia, Increased ser... OMIM:619377
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Dry skin, Polydipsia, Obesity ORPHA:3157
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the upper urinary tract, Abdo... ORPHA:873
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Abdominal distention, Cryptorchidism, Abnormal renal morphology, Hy... ORPHA:1655
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Dry skin, Increased body weight, Anemia OMIM:614450
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, 2-ethylhydracylic aciduria OMIM:610006
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Webb-Dattani Syndrome
Neurogenic bladder, Short stature, Cryptorchidism, Obesity, Hyposthenuria, Gastroesophageal reflu... OMIM:615926
Recombinant Chromosome 8 Syndrome
Postnatal growth retardation, Cryptorchidism, Low posterior hairline, Growth delay, Hydronephrosis OMIM:179613
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color ORPHA:90033
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Proteinuria, Microscopic hematuria, Minimal change glomerulonephritis,... ORPHA:1830
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Diarrhea, ... ORPHA:263455
Hypothyroidism, Congenital, Nongoitrous, 7
Growth delay, Lethargy, Short stature OMIM:618573
Parathyroid Carcinoma
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp... ORPHA:143
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Hydroxykynureninuria
Renal tubular acidosis, Dry skin, Abnormal repetitive mannerisms, Abnormal circulating tryptophan... ORPHA:79155
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor... OMIM:120330
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Feeding difficulties in infanc... ORPHA:280633
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Dehydra... ORPHA:230
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... OMIM:146110
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Feeding difficulties... OMIM:277400
Combined Oxidative Phosphorylation Deficiency 47
Failure to thrive, Dehydration, Dysphagia OMIM:618958
Citrullinemia, Classic
Protein avoidance, Hyperglutaminemia, Oroticaciduria, Hyperammonemia, Episodic ammonia intoxicati... OMIM:215700
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Postnatal... OMIM:617093
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Abdominal pain, Elevated circulating uracil concentration, Protein avoidance, Hyperglutaminemia, ... OMIM:311250
Donohue Syndrome
Postnatal growth retardation, Abdominal distention, Long penis, Nail dysplasia, Severe failure to... OMIM:246200
Adrenal Hypoplasia, Congenital
Hyponatremia, Failure to thrive, Dehydration, Renal salt wasting OMIM:300200
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... ORPHA:90038
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Short stature, Growth delay, Reduced renal corticomedullary differentia... OMIM:618541
Trehalase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:103909
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Proteinuria, Chronic neutropenia, Hyperlipidemia, Nephrolithiasis, Stage 5 ... ORPHA:79259
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Alopecia totalis ORPHA:1014
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Cryptorchidism, Renal hypoplasia/aplasia ORPHA:1756
Primary Pulmonary Hypoplasia
Ureteral stenosis, Failure to thrive, Increased circulating surfactant protein level, Intrauterin... ORPHA:2257
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Polydipsia, Nephrolithiasis ORPHA:369929
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin OMIM:129490
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Periorbital edema, Leukocytosis, Oliguria, Weight loss, Lymph... ORPHA:514
Cockayne Syndrome Type 3
Renal insufficiency, Neurogenic bladder, Hydroureter, Dry hair, Unilateral renal agenesis, Mild p... ORPHA:90324
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Noonan Syndrome 4
Ureteral duplication, Curly hair, Short stature, Large for gestational age, Sparse eyebrow, Crypt... OMIM:610733
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Bowel incontinence, Ectopic kidney, Cr... ORPHA:3027
Kury-Isidor Syndrome
Alopecia, Feeding difficulties, Growth delay, Hydronephrosis, Hypertrichosis OMIM:619762
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Short stature, Renal hypoplasia, Coarse hair, Nail dystrophy, Intrauterin... ORPHA:75389
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Dry skin, Cutis laxa, Dysphagia, Failure to thrive, Hypertrichosis OMIM:612379
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Al Amyloidosis
Gastrointestinal hemorrhage, Renal insufficiency, Increased circulating NT-proBNP concentration, ... ORPHA:85443
Cholera
Hyponatremia, Abnormality of renal excretion, Achlorhydria, Abdominal pain, Diarrhea, Abnormal bl... ORPHA:173
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Chronic constipation, Hydronephrosis, Cryptorchidism OMIM:618060
Glycogen Storage Disease Ia
Proteinuria, Short stature, Hyperlipidemia, Nephrolithiasis, Growth delay, Focal segmental glomer... OMIM:232200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kinase concentrat... OMIM:201475
Odontochondrodysplasia 1
Mesomelic short stature, Short stature, Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Shigellosis
Hyponatremia, Failure to thrive in infancy, Anorexia, Hemolytic-uremic syndrome, Leukocytosis, Ur... ORPHA:810
Ichthyosis Vulgaris
Dry skin OMIM:146700
Panhypophysitis
Hyponatremia, Normochromic anemia, Hyposthenuria, Pallor, Polydipsia ORPHA:95513
Rabson-Mendenhall Syndrome
Thick hair, Long penis, Low anterior hairline, Hypertrichosis, Nephrocalcinosis, Premature grayin... ORPHA:769
Dermoodontodysplasia
Dry skin, Trichodysplasia OMIM:125640
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Early Myoclonic Encephalopathy
Lethargy, Poor suck, Dysphagia, Feeding difficulties ORPHA:1935
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Small for gestational age, Hypospadias, Short stature, Cryptorchidism, Uroli... OMIM:300661
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Hepatic failure, Lethargy, Transient hyperlipidemia ORPHA:156
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Abdominal distention, Cryptorchidism, Hypocalcemia, Micropenis, Hepatic failure, Hypoproteinemia,... OMIM:235255
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Postnatal growth retardation, Cryptorchidism, Diarrhea, Increas... ORPHA:90321
Teebi-Shaltout Syndrome
Ureteral stenosis, Slow-growing hair, Short stature, Highly arched eyebrow, Low anterior hairline... OMIM:272950
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Alopecia, Leukocytosis, Oliguria, Abnormal blood ion concentra... ORPHA:31824
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Intrauterine growth... OMIM:617914
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Cryptorchidism, Gastrointestinal dysmotility, Hydronephrosis ORPHA:531151
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Hyperconvex nail, Postnatal growth retardation, Hypo... OMIM:269150
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Renal interst... ORPHA:91500
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Crypt... ORPHA:261265
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Abdominal pain, Ungual fibro... ORPHA:538
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin OMIM:617920
Idiopathic Achalasia
Weight loss ORPHA:930
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Hypogonadotropic hypogonadism, Poor appetite, Abdominal pain, Cache... ORPHA:298
L-Ferritin Deficiency
Alopecia, Decreased circulating ferritin concentration OMIM:615604
N-Acetylglutamate Synthase Deficiency
Hyperglutamatemia, Hyperammonemia, Vomiting, Lethargy, Failure to thrive OMIM:237310
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Long penis, Small for gestational age, Dry skin, Hypertrichosis OMIM:262190
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Micropenis, Hydronephrosis ORPHA:1926
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Acute hyperammonemia, Poor appetite, Reye syndrome-like episodes, Hyperglutaminemia, Diarrhea, Hy... ORPHA:927
Congenital Lethal Erythroderma
Failure to thrive, Dry skin, Hypoalbuminemia ORPHA:1954
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Short stature, Loss of eyelashes, Red urine, Elevated circulating uropo... OMIM:263700
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Azoospermia, Increas... OMIM:602390
Gitelman Syndrome
Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Pericardial effusio... ORPHA:358
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst OMIM:611773
Hardikar Syndrome
Hypoplasia of the bladder, Failure to thrive, Renal insufficiency, Recurrent urinary tract infect... OMIM:301068
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Palmoplantar scaling skin, Erythema, Scaling skin, Dry skin ORPHA:530838
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Vomiting, ... ORPHA:470
Pediatric-Onset Graves Disease
Hyperactivity, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Polydipsia, Fa... ORPHA:525731
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp... ORPHA:99880
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal hair morphology, Alopecia, Dry skin, Fine hair ORPHA:248
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Failure to thrive, Renal hypoplasia, Hydronephrosis OMIM:613735
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Dry skin, Scaling skin, Renal cortical cysts OMIM:609180
Penile Agenesis
Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... ORPHA:49
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Fair hair, Hypospadias, Failure to thrive, Premature graying of hair, Anemia, Dry s... OMIM:620331
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Episodic vomiting, Feeding difficulties OMIM:618224
Tetraploidy
Intrauterine growth retardation, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Moynahan Syndrome
Alopecia, Short stature, Cachexia, Hypogonadism, Sparse hair ORPHA:2574
Agel Amyloidosis
Proteinuria, Edema, Xerostomia, Stage 5 chronic kidney disease, Cutis laxa, Blepharochalasis, Abn... ORPHA:85448
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Small for gestational age, Elevated circulating creatine kinase con... OMIM:301056
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst OMIM:236500
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis, Hirsutism OMIM:305620
Thumb Deformity And Alopecia
Alopecia, Short stature OMIM:188150
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Feeding difficulties in infancy, Postnatal growth retardation, Ne... OMIM:606407
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Growth delay, Failure to thrive, Hydronephrosis, Feeding difficulties ORPHA:488613
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Polyhydramnios, Large for gestational age, A... OMIM:619075
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Failure to thrive, Slow-growing hair, Xerostomia, Nephrotic syndrome, Apl... ORPHA:238468
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Severe short stature, Hypospadias, Cachexia, Growth dela... ORPHA:3242
Xfe Progeroid Syndrome
Renal insufficiency, Failure to thrive, Proteinuria, Cachexia, Dry skin, Hypoalbuminemia, Ascites OMIM:610965
Johanson-Blizzard Syndrome
Hypoplasia of penis, Alopecia, Hypospadias, Short stature, Abnormal hair pattern, Intrauterine gr... ORPHA:2315
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Noonan Syndrome 13
Duplicated collecting system, Highly arched eyebrow, Lymphedema, Aggressive behavior, Head-bangin... OMIM:619087
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Hypersplenism, Thrombocyto... ORPHA:731
Biotinidase Deficiency
Alopecia, Feeding difficulties in infancy, Diarrhea, Hyperammonemia, Organic aciduria, Vomiting, ... OMIM:253260
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Unilateral renal agenesis, Supernumerary nipple, Cryptorchidism, Feeding difficultie... OMIM:619194
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Increased level of L-fucose in urine, Increased level ... OMIM:215600
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... ORPHA:159
Orthostatic Hypotension 1
Hypomagnesemia, Retrograde ejaculation, Nocturia, Increased blood urea nitrogen OMIM:223360
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Abdominal pain, Malnutri... OMIM:229600
Small Bowel Atresia
Short stature, Abdominal distention, Feeding difficulties, Vomiting, Intrauterine growth retardat... ORPHA:1201
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Koolen-De Vries Syndrome
Ureteral duplication, Hypopigmentation of hair, Hypospadias, Short stature, Abnormality of hair t... ORPHA:96169
Atelis Syndrome 1
Anemia, Leukopenia, Attention deficit hyperactivity disorder, Dry skin, Thrombocytopenia OMIM:620184
Raine Syndrome
Hydroureter, Short stature, Highly arched eyebrow, Hypophosphatemia, Hydronephrosis OMIM:259775
Cranioectodermal Dysplasia 3
Short stature, Short nail, Rhizomelia, Broad nail, Stage 5 chronic kidney disease, Fine hair, Nep... OMIM:614099
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Schimke Immunoosseous Dysplasia
Renal insufficiency, Small for gestational age, Proteinuria, Bilateral cryptorchidism, Disproport... OMIM:242900
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Failure to thrive, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemi... OMIM:617156
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Anorexia, Lacti... ORPHA:3008
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Wiedemann-Rautenstrauch Syndrome
Synophrys, Wide penis, Sparse hair, Vesicoureteral reflux, Dilatation of renal calices, Hypospadi... ORPHA:3455
Meningococcal Meningitis
Renal insufficiency, Projectile vomiting, Elevated circulating C-reactive protein concentration, ... ORPHA:33475
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Abdominal distention, Ureteral duplication, Secretory diarrhea, Renal duplication OMIM:270420
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney OMIM:602200
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Small for gestational age, Slow-growing hair, Tiger tail banding, Dry skin OMIM:616943
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Small for gestational age, Short stature, Cystathioninuria, Methylmalonic... OMIM:277380
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight ORPHA:1672
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, T lymphocytopenia, Joint swelling, Neutropenia, Tubulointerstitial f... OMIM:607944
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Short stature, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal... ORPHA:35173
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Alopecia totalis, Abnormality of the nail OMIM:302000
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Bilateral cryptorchidism, Micropenis, Hypospadias OMIM:618840
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Hydroureter, Thin fingernail, Abnormality of the kidney, Abnormality of... ORPHA:2273
Axial Mesodermal Dysplasia Spectrum
Short stature, Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localiza... ORPHA:1834
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Nasogastric tube feeding in infancy, Obesity, Renal cyst, Hy... ORPHA:369837
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur... OMIM:304150
Isolated Biliary Atresia
Small for gestational age, Dark yellow urine, Conjugated hyperbilirubinemia, Decreased liver func... ORPHA:30391
Celiac Disease, Susceptibility To, 1
Alopecia, Short stature, Abdominal pain, Postnatal growth retardation, Abdominal distention, Diar... OMIM:212750
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Scrub Typhus
Nausea and vomiting, Lethargy, Renal insufficiency, Abdominal pain ORPHA:83317
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Whipple Disease
Hyponatremia, Cachexia, Anorexia, Splenomegaly, Pedal edema, Polydipsia, Anemia ORPHA:3452
Systemic Capillary Leak Syndrome
Renal insufficiency, Pulmonary edema, Leukocytosis, Oliguria, Pedal edema, Weight loss, Pleural e... ORPHA:188
19Q13.11 Microdeletion Syndrome
Failure to thrive, Hypospadias, Supernumerary nipple, Cachexia, Fine hair, Sparse or absent eyela... ORPHA:217346
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Congenital Heart Defects And Ectodermal Dysplasia
Medial flaring of the eyebrow, Sparse scalp hair, Attention deficit hyperactivity disorder, High ... OMIM:617364
Sepsis In Premature Infants
Small for gestational age, Elevated circulating C-reactive protein concentration, Abdominal diste... ORPHA:90051
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Developmental And Epileptic Encephalopathy 92
Lethargy, Feeding difficulties OMIM:617829
Igg4-Related Aortitis
Intestinal obstruction, Elevated circulating C-reactive protein concentration, Abdominal pain, We... ORPHA:449400
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Prominent eyelashes, Feeding difficulties, Chronic constipation, Failure to thrive... OMIM:619179
Zaki Syndrome
Sparse scalp hair, Renal agenesis, Short stature, Poor appetite, Hypoplastic toenails, Sparse eye... OMIM:619648
Trisomy 17P
Hypoplasia of penis, Urethral valve, Short stature, Urethral stenosis, Generalized hirsutism, Low... ORPHA:261290
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Hyperlipidemia, Irregular menstruation, Increased bod... ORPHA:189427
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Dehydration, Nephrocalcinosi... OMIM:259900
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Toluene Embryopathy
Cryptorchidism, Short stature, Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis OMIM:236700
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Cryptorchidism, Horseshoe kidney, Rena... ORPHA:166035
Vici Syndrome
Short stature, Feeding difficulties in infancy, Ureteral atresia, Feeding difficulties, Renal tub... ORPHA:1493
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin ORPHA:1184
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Medium chain dicarboxylic aciduria, Vomiting, Hyperglycinuria OMIM:201450
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Abdominal pain, Hypercalciuria, Depression, Nephrocalci... ORPHA:428
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Cryptorchidism, Feeding difficulties, Micropenis OMIM:617516
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Megalo... ORPHA:79282
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Shor... OMIM:614527
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Hematuria, Abnormality of the bladder, Sparse hair ORPHA:1839
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Volar fingernail, Hydronephrosis OMIM:619217
Joubert Syndrome 6
Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Dry sk... ORPHA:2890
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Constipation, Gastroesophageal reflu... OMIM:618494
Gapo Syndrome
Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic nipples, Sparse hair, Bre... OMIM:230740
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Alopecia, Pancytopenia, Aplastic anemia, Urethral stenosis, Fine hair, Premat... OMIM:613990
Athyreosis
Short stature, Abdominal distention, Feeding difficulties, Growth delay, Constipation ORPHA:95713
Polysyndactyly With Cardiac Malformation
Stillbirth, Polyhydramnios, Hepatic cysts, Renal cyst OMIM:263630
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Alopecia, Elevated circulating C-reactive protein concentrati... OMIM:615559
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Low posterior hairline, Premature graying of hair, Alopecia of scalp, Dry... ORPHA:2617
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Abdominal distention, Low anterior hairline, Renal hyp... OMIM:617666
Pseudo-Torch Syndrome 2
Lethargy, Abnormal renal corticomedullary differentiation OMIM:617397
Meckel Syndrome 12
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Intrauterine growth retardation OMIM:616258
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Scaling ski... ORPHA:2269
Adrenoleukodystrophy
Alopecia, Urinary incontinence, Bowel incontinence, Impotence, Hypogonadism, Elevated circulating... OMIM:300100
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Abnormality of the ureter, Dystrophic toenail, Hypogo... ORPHA:3253
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Hypospadias, Rhizomelia, Cryptorchidism, Feeding difficulties, Hypocal... OMIM:607143
Trisomy 13
Abnormal eyelash morphology, Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Dis... ORPHA:3378
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin, Thrombocytopenia OMIM:612952
Addison Disease
Hyponatremia, Normocytic anemia, Failure to thrive, Salt craving, Hypercalcemia, Sparse axillary ... ORPHA:85138
Radio-Tartaglia Syndrome
Thick eyebrow, Striae distensae, Highly arched eyebrow, Long eyebrows, Aggressive behavior, Impul... OMIM:619312
Cortisone Reductase Deficiency 1
Alopecia, Obesity, Infertility, Oligomenorrhea, Hirsutism OMIM:604931
Nephroblastoma
Hematuria, Nephroblastoma, Weight loss ORPHA:654
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Rhizomelia, Sparse eyebrow, Postnatal growth retardation, Elevated 8-dehydrocho... OMIM:302960
Granulomatosis With Polyangiitis
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Glomerulopathy, Uretera... ORPHA:900
Congenital Pancreatic Cyst
Abdominal distention, Vomiting, Anorexia, Abdominal pain ORPHA:313906
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Decrease... ORPHA:2985
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Short stature, Highly arched eyebrow, Trichiasis, Renal hypoplasia, Renal c... OMIM:618460
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Hirsutism, Dehydration OMIM:214150
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Hirsutism, Dehydration, Increased ci... ORPHA:90791
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorr... ORPHA:398079
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Uric acid nephrolithiasi... ORPHA:411536
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Mitochondrial Complex I Deficiency, Nuclear Type 5
Growth delay, Vomiting, Dysphagia, Lethargy, Failure to thrive, Episodic vomiting OMIM:618226
Wolfram Syndrome
Recurrent urinary tract infections, Dysuria, Abnormality of the urinary system, Nephropathy, Poly... ORPHA:3463
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Low anterior hairline, Horizontal eyebrow, Vesicoureteral reflux, High anterior hairline, Dry ski... OMIM:618797
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Dermoodontodysplasia
Sparse scalp hair, Dry skin, Sparse body hair, Trichodysplasia ORPHA:1660
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Oligohydramnios OMIM:267430
Isaacs Syndrome
Weight loss ORPHA:84142
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Short stature, Cryptorchidism, Increased body weight, Primary amenorrhe... ORPHA:398069
Glycogen Storage Disease Ib
Proteinuria, Short stature, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, ... OMIM:232220
Anterior Cutaneous Nerve Entrapment Syndrome
Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Decreased bod... ORPHA:51890
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Candidiasis, Familial, 1
Alopecia OMIM:114580
Cryoglobulinemia, Familial Mixed
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology OMIM:123550
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Pearson Syndrome
Hydrops fetalis, Renal cyst, Dehydration, Hypocalcemia, Neutropenia, Reticulocytosis, Hypokalemia... ORPHA:699
Fanconi Anemia
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Short stature,... ORPHA:84
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Lethargy, Failure to thrive, Dysphagia OMIM:613561
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Renal hypoplasia, Feeding difficulties, Nephrocalcinosis, Growth delay,... OMIM:617913
Lysosomal Acid Lipase Deficiency
Hyponatremia, Failure to thrive, Hypertriglyceridemia, Bone-marrow foam cells, Renal salt wasting... ORPHA:275761
Pontocerebellar Hypoplasia, Type 6
Feeding difficulties, Gastroesophageal reflux, Lethargy, Failure to thrive, Poor suck OMIM:611523
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Diarrhea, Cryptorchidism, Elevated circulating creatinine concentration, Hy... OMIM:608104
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Hypospadias, Hydronephrosis, Low posterior hairline OMIM:220210
Liposarcoma
Abnormality of the kidney, Weight loss ORPHA:69078
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Cry... OMIM:258040
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Hydroureter, Severe short stature, Abnormality of the kidney, Abnormality of the upper ... ORPHA:2636
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behav... ORPHA:534
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Disproportionate short-trunk short stature, Horseshoe kidn... OMIM:608022
Citrullinemia Type I
Failure to thrive, Hyperammonemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Eleva... ORPHA:247525
Dystonia-Aphonia Syndrome
Abnormal urinary odor, Dysphagia ORPHA:412217
Leprechaunism
Postnatal growth retardation, Abdominal distention, Long penis, Hypercalciuria, Nephrocalcinosis,... ORPHA:508
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i... ORPHA:79233
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Coffin-Siris Syndrome 1
Sparse scalp hair, Dry hair, Hydroureter, Hypospadias, Short stature, Ectopic kidney, Feeding dif... OMIM:135900
Sialuria
Synophrys, Hirsutism, Low posterior hairline, Hypoplastic nipples, Protuberant abdomen, Generaliz... OMIM:269921
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Impotence, Hypogon... ORPHA:79230
Cyclic Vomiting Syndrome
Anorexia, Abdominal pain, Gastrointestinal dysmotility, Growth delay, Vomiting, Lethargy, Nausea OMIM:500007
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Lethargy, Decreased liver function, Feeding difficulties OMIM:246900
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Wilson Disease
Acute hepatic failure, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypo... OMIM:277900
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Bowel incontinence, Highly ... ORPHA:261494
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Hydronephrosis, Edema OMIM:607598
Silver-Russell Syndrome 1
Urethral valve, Small for gestational age, Hypospadias, Abnormality of the ureter, Congenital pos... OMIM:180860
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Ecchymosis, Decreased g... ORPHA:340
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Dry skin, Anemia OMIM:618116
Combined Oxidative Phosphorylation Deficiency 2
Feeding difficulties in infancy, Lethargy, Small for gestational age OMIM:610498
Zttk Syndrome
Curly hair, Short stature, Polyuria, Unilateral renal agenesis, Feeding difficulties in infancy, ... OMIM:617140
Complex Regional Pain Syndrome
Abnormality of hair growth, Edema of the upper limbs, Erythema, Pedal edema, Dry skin ORPHA:83452
Isolated Complex I Deficiency
Increased serum pyruvate, Feeding difficulties, Proximal tubulopathy, Vomiting, Intrauterine grow... ORPHA:2609
Gaba-Transaminase Deficiency
Lethargy, Feeding difficulties OMIM:613163
Hyperuricemia, Hprt-Related
Nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria OMIM:300323
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Short stature, Hyperconvex thumb nails, Fine hair, Hydronephrosis ORPHA:3079
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ureteral stenosis, Short stature, Cryptorchidism, Growth delay, Abnorma... ORPHA:2719
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Abdominal pain, Abdominal distention, Weight loss, Constipation, Menor... ORPHA:168816
Hepatoerythropoietic Porphyria
Abnormal circulating porphyrin concentration, Scarring alopecia of scalp, Loss of eyelashes, Red ... ORPHA:95159
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Hyperphosphaturia, Short stature, Horseshoe kidney, Growth delay, Hypophosphatemic rickets OMIM:163200
Mulibrey Nanism
Cachexia ORPHA:2576
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Renal hypoplasia, Lacticaciduria, Aminoaciduria, 3-Methylglutaconic aciduria, Failure to thrive, ... OMIM:604273
Huntington Disease-Like 2
Weight loss ORPHA:98934
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Short stature, Elevated circulating creatine kinase concentration, Low anteri... OMIM:608779
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Redundant skin, Failure to thrive in infancy, Lymphedema, Abnorm... ORPHA:1340
Chromosome 2P16.1-P15 Deletion Syndrome
Decreased testicular size, Short stature, Postnatal growth retardation, Cryptorchidism, Feeding d... OMIM:612513
Genitopatellar Syndrome
Sparse scalp hair, Multicystic kidney dysplasia, Short stature, Cryptorchidism, Feeding difficult... ORPHA:85201
Cach Syndrome
Premature ovarian insufficiency, Renal hypoplasia, Nonketotic hyperglycinemia, Feeding difficulti... ORPHA:135
Recessive X-Linked Ichthyosis
Dry skin, Attention deficit hyperactivity disorder ORPHA:461
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Short stature, Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia OMIM:617661
Micro Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Abnormal localization of kidney, Hydronephros... ORPHA:2510
Sjögren-Larsson Syndrome
Erythema, Dry skin ORPHA:816
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea ORPHA:103907
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Protein avoidance, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Vomiting... OMIM:237300
Kerion Celsi
Alopecia ORPHA:499
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Failure to thrive in infancy, Hypospadias, Short stature, Rhizomelia, Feedin... OMIM:611209
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Even-Plus Syndrome
Recurrent urinary tract infections, Severe short stature, Highly arched eyebrow, Synophrys, Renal... OMIM:616854
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration OMIM:620126
Tetrasomy 15Q26
Intrauterine growth retardation, Hydronephrosis, Horseshoe kidney OMIM:614846
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Dry skin, Mildly elevated creatine kinase ORPHA:486815
Otopalatodigital Syndrome Type 2
Hydronephrosis, Failure to thrive, Hypospadias, Ureteral obstruction ORPHA:90652
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Alopecia, Sho... OMIM:203800
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... OMIM:233450
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Failure to thrive, Small for gestational age, Hyperactivity, ... OMIM:610443
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Short stature, Cryptorchidism, Feeding difficulties, Growth delay, Gastroesophageal reflux, Hydro... ORPHA:457193
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Synophrys, Hyperprolinemia, Long eyelashes, Hyperalaninemia, Lethargy OMIM:619064
Sézary Syndrome
Alopecia, Edema, Splenomegaly, Dry skin, Nail dystrophy, Abnormal lymphocyte morphology ORPHA:3162
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration OMIM:620125
Gabriele-De Vries Syndrome
Sparse eyebrow, Cryptorchidism, Feeding difficulties, Frontal upsweep of hair, Intrauterine growt... OMIM:617557
X-Linked Intellectual Disability Due To Gria3 Mutations
Short stature, Cryptorchidism, Micropenis, Slender build, Hydronephrosis ORPHA:364028
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Short stature, Hypergonadotropic hypogonadism, Growth delay, Sparse ... ORPHA:2850
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Feeding difficulties, Growth delay, Decreased serum zinc, Esophagit... ORPHA:541423
Noonan Syndrome 5
Curly hair, Polyhydramnios, Large for gestational age, Sparse eyebrow, Fine hair, Dry skin OMIM:611553
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Large for gest... OMIM:614080
Prolidase Deficiency
Recurrent cystitis, Splenomegaly, Erythema, Low anterior hairline, Skin ulcer, White forelock, Dr... ORPHA:742
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Failure to thrive OMIM:177735
Distal Triplication 15Q
Abnormality of the kidney, Large for gestational age, Dilatation of the renal pelvis, Horseshoe k... ORPHA:314588
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Absence of renal corticomedullary differentiation, Renal hypoplasia, Feeding difficulties, Growth... OMIM:619758
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Dehydration, Weight loss, R... ORPHA:99885
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... OMIM:617595
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Sparse eyebrow, Cryptorchidism, Fi... ORPHA:444072
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Car T Cell Therapy-Associated Cytokine Release Syndrome
Poor appetite, Diarrhea, Elevated circulating creatinine concentration, Decreased urine output, V... ORPHA:542323
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Large for gestational age, Feeding difficulties, Decreased circulating... ORPHA:324575
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Dry skin, Sparse body hair OMIM:618535
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Failure to thrive, Protein avoidance, Oroticaciduria, Hyperammonemia, Feeding difficulties, Hyper... ORPHA:415
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Supernumerary nipple, Short stature, Rhizomelia, Elevated circul... OMIM:614376
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Short stature, Feeding difficulties in infancy, Crypto... ORPHA:912
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... OMIM:145001
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Absent eyebrow, Renal insufficiency, Membranoproliferative ... OMIM:137940
Refsum Disease
Splenomegaly, Renal insufficiency, Dry skin ORPHA:773
Schopf-Schulz-Passarge Syndrome
Sparse hair, Nail dystrophy, Dry skin, Sparse body hair OMIM:224750
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Failure to thrive, Ethylmalonic aciduria, Feeding difficulties OMIM:201470
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Poor appetite, Diarrhea, Paronychia, Decreased serum zinc, Alopecia of scalp, Hypo... OMIM:201100
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Renal cyst OMIM:109130
Thyroid Hemiagenesis
Growth delay, Abdominal distention, Constipation ORPHA:95719
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Abnormality of the ureter, Obesity, Hypogonadism ORPHA:3409
22Q11.2 Duplication Syndrome
Growth delay, Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis ORPHA:1727
Joubert Syndrome 20
Renal cyst OMIM:614970
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Split-Hand/Foot Malformation 3
Ridged nail, Nail dystrophy, Renal hypoplasia, Nail dysplasia OMIM:246560
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,... OMIM:277410
Den Hoed-De Boer-Voisin Syndrome
Recurrent urinary tract infections, Overweight, Widow's peak, Obesity, Stereotypical hand wringin... OMIM:619229
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration, Leukopenia, 3-Methylglutaconic aciduria, Neutropenia, Thrombocytopenia OMIM:616271
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... OMIM:256700
Hyperchlorhidrosis, Isolated
Hyponatremia, Hypernatremic dehydration, Failure to thrive, Hyperkalemia OMIM:143860
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Congenital Erythropoietic Porphyria
Abnormal circulating porphyrin concentration, Scarring alopecia of scalp, Loss of eyelashes, Red-... ORPHA:79277
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia, Premature ovarian insufficiency, Female hypogonadism, Diarrhea, Nephrocalcinosis, Nail ... OMIM:240300
2P15P16.1 Microdeletion Syndrome
Decreased testicular size, Multicystic kidney dysplasia, Supernumerary nipple, Sparse eyebrow, Fe... ORPHA:261349
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Severe short stature, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, ... ORPHA:2251
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Weight loss, Failure to thr... ORPHA:95427
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased serum pyruvate, Lethargy, Vomiting OMIM:618225
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating... ORPHA:79126
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Failure to thrive, Vomiting OMIM:618228
Aredyld Syndrome
Short stature, Cachexia, Abnormality of the ureter, Intrauterine growth retardation, Sparse body ... ORPHA:1133
Glycerol Kinase Deficiency
Increased urinary glycerol, Small for gestational age, Hypertriglyceridemia, Hyperglycerolemia, S... OMIM:307030
Hadziselimovic Syndrome
Failure to thrive, Low anterior hairline, Renal hypoplasia, Short stature OMIM:612946
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:212138
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Short stature, Premature graying of hair, Fingernai... ORPHA:1297
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Short stature, Cryptorchidism, Renal hypoplasia, Fine hair, Growth del... OMIM:616817
Peroxisome Biogenesis Disorder 5A (Zellweger)
Small for gestational age, Hypospadias, Conjugated hyperbilirubinemia, Feeding difficulties in in... OMIM:614866
Leukoencephalopathy With Vanishing White Matter 1
Lethargy, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea OMIM:603896
Degcags Syndrome
Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Prematur... OMIM:619488
Syndromic Diarrhea
Lymphopenia, Hypopigmentation of hair, Brittle hair, Thrombocytosis, Small for gestational age, I... ORPHA:84064
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Short stature, Nephrolithiasis, Hypocalcemia, Hypophosphatemia ORPHA:93160
Trisomy 20P
Hypospadias, Abnormality of the kidney, Highly arched eyebrow, Thick hair, Cryptorchidism, Abnorm... ORPHA:261318
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Dry skin, Obesity ORPHA:3085
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Shor... ORPHA:2322
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Hyperalaninemia, Small for gestational age, Lethargy OMIM:312170
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Feeding difficulties, Decreased circulating free fatty acid level, Let... ORPHA:276556
Joubert Syndrome 2
Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis OMIM:608091
Hyperuricemic Nephropathy, Familial Juvenile, 3
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology OMIM:614227
Mesomelia-Synostoses Syndrome
Abnormal eyebrow morphology, Short stature, Hydronephrosis ORPHA:2496
X-Linked Intellectual Disability, Nascimento Type
Lumbar hypertrichosis, Hypospadias, Aggressive behavior, Abnormal hair whorl, Synophrys, Generali... ORPHA:163956
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Hypospadias, Large for gestational age, Cryptorchidism, Protuberant abdomen ORPHA:457485
Gapo Syndrome
Alopecia, Sparse eyelashes, Short stature, Dysmenorrhea, Sparse eyebrow, Early balding, Nephrolit... ORPHA:2067
Cystinuria
Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia ORPHA:214
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Dehydration, Weight loss, Increased cir... ORPHA:171876
Hand-Foot-Genital Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the urethra, Hypoplastic fifth to... ORPHA:2438
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Hypospadias, Intrauterine growth retardation, Micropenis, Hydronephrosis OMIM:616897
Grubben-De Cock-Borghgraef Syndrome
Dry skin ORPHA:2101
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Sparse eyebrow, Dry skin OMIM:600906
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Feeding difficulties, Decreased circulating free fatty acid level, Let... ORPHA:276575
Chand Syndrome
Curly hair, Hydroureter, Nail dysplasia ORPHA:1401
Idiopathic Intracranial Hypertension
Obesity, Depression, Vomiting, Lethargy, Nausea ORPHA:238624
Baller-Gerold Syndrome
Failure to thrive in infancy, Short stature, Abnormality of the ureter, Abnormal localization of ... ORPHA:1225
1Q21.1 Microdeletion Syndrome
Short stature, Cryptorchidism, Depression, Vesicoureteral reflux, Intrauterine growth retardation... ORPHA:250989
3C Syndrome
Hypoplasia of penis, Hypospadias, Short stature, Feeding difficulties in infancy, Postnatal growt... ORPHA:7
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Small nail, Vesicoureteral... OMIM:140000
Transcobalamin Ii Deficiency
Diarrhea, Methylmalonic aciduria, Vomiting, Lethargy, Failure to thrive OMIM:275350
Chromosome 19Q13.11 Deletion Syndrome, Distal
Failure to thrive, Sparse eyelashes, Hypospadias, Sparse eyebrow, Sparse hair, Dry skin OMIM:613026
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy, Constipation, Feeding difficulties ORPHA:101150
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Intrauterine growth retardation, Hydronephrosis, Cryptorchidism OMIM:620327
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Failure to thrive, Hypertriglyceridemia, Small for gestational age, Polyuria, ... OMIM:606721
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Postnatal growth retardation, Cryptorchidism, Hypercalciuria, Intraut... OMIM:614732
Leigh Syndrome
Failure to thrive, Alopecia, Gastrointestinal dysmotility, Lacticaciduria, Methylmalonic aciduria... ORPHA:506
Sheehan Syndrome
Hyponatremia, Sparse axillary hair, Sparse pubic hair, Obesity, Normochromic anemia, Hyposthenuri... ORPHA:91355
Huriez Syndrome
Dry skin, Lack of skin elasticity ORPHA:384
Riddle Syndrome
Dry skin OMIM:611943
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Failure to thrive, Hypercalcemia, Eosinophili... ORPHA:199299
Lassa Fever
Nausea and vomiting, Menometrorrhagia, Abdominal pain, Diarrhea, Oliguria, Dysphagia ORPHA:99824
Currarino Syndrome
Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Gastrointestinal ob... OMIM:176450
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Short stature, Abdominal distention, Disproportionate short-trunk short sta... OMIM:277300
H Syndrome
Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Short stature, Abnormality of the ki... ORPHA:168569
Intellectual Developmental Disorder, Autosomal Dominant 53
Cryptorchidism, Gastrointestinal dysmotility, Growth delay, Frontal upsweep of hair, Micropenis, ... OMIM:617798
Al-Gazali Syndrome
Failure to thrive, Hydronephrosis, Gastrojejunal tube feeding in infancy OMIM:609465
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hypomethioninemia, Feeding difficulties in infancy, Hyperhomocystinemia, Cystathioninemia, Lethar... ORPHA:395
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Symptomatic Form Of Hfe-Related Hemochromatosis
Hypogonadotropic hypogonadism, Abdominal pain, Increased circulating ferritin concentration, Elev... ORPHA:465508
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Increased urinary glycerol OMIM:229700
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Alopecia, Pelvic kidney, Hydronephrosis OMIM:613001
Rapp-Hodgkin Syndrome
Sparse eyelashes, Hypospadias, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Dry skin,... OMIM:129400
Rhizomelic Chondrodysplasia Punctata
Alopecia, Dry skin, Sparse body hair ORPHA:177
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Growth delay, Hypocalcemia, Protuberant abdomen, Hypophosphatemia, Fai... OMIM:264700
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormal fingernail morphology, Abnorma... ORPHA:2036
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Severe postnatal growth retardat... ORPHA:2237
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Failure to thrive in infancy, Tongue thrusting, Anemia, Self-injurious behavior, S... ORPHA:261323
Autosomal Agammaglobulinemia
Failure to thrive, Dehydration, Neutropenia ORPHA:33110
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Failure to thrive, Elevated circulating C-reactive protein concentra... OMIM:617388
Fibrodysplasia Ossificans Progressiva
Alopecia, Failure to thrive ORPHA:337
Diffuse Cutaneous Systemic Sclerosis
Nausea and vomiting, Dyspareunia, Renal insufficiency, Oliguria, Gastroesophageal reflux, Dysphag... ORPHA:220393
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Nausea and vomiting, Hypoplasia of penis, Recurrent urinary tract infections, Short stature, Abno... ORPHA:847
Peroxisome Biogenesis Disorder 3A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Polycystic kidney dysplasia OMIM:614859
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Feeding difficulties, Large for gestational age, Increased C-peptide level ORPHA:276580
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Nail dystrophy, Dr... OMIM:308800
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa... OMIM:129500
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Neurogenic bladder, Dry skin, Xerostomia OMIM:618527
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia, Lymphedema OMIM:211890
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Cachexia, Anorexia, Hypoplastic toenails, Abdominal pai... ORPHA:2930
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Supernumerary nipple, Polyhydramnios, Fine hair, Dry skin, Aplasia/Hypoplasi... ORPHA:1812
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting OMIM:619445
Macs Syndrome
Alopecia, Short stature, Hypergonadotropic hypogonadism, Sparse eyebrow, Cryptorchidism, Urethral... OMIM:613075
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Severe postnatal growth... OMIM:266810
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive in infancy, Renal hypoplasia OMIM:618975
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Premature ovarian insufficiency, Small for gestational age, Hypospadias, Short stature,... ORPHA:2959
15Q Overgrowth Syndrome
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Intrauterine growth retarda... ORPHA:314585
Orofaciodigital Syndrome Xvii
Micropenis, Short stature, Renal hypoplasia, Decreased body weight OMIM:617926
Eec Syndrome
Hypospadias, Slow-growing hair, Renal hypoplasia/aplasia, Sparse eyebrow, Xerostomia, Fine hair, ... ORPHA:1896
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Fucosidosis
Thick eyebrow, Failure to thrive, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosac... OMIM:230000
Adiposis Dolorosa
Sparse axillary hair, Sparse pubic hair, Xerostomia, Obesity, Dry skin ORPHA:36397
3-Methylglutaconic Aciduria, Type V
Hypospadias, Postnatal growth retardation, Cryptorchidism, 3-Methylglutaric aciduria, 3-Methylglu... OMIM:610198
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Alopecia, Failure to thrive, Anorexia, Erythema, Skin ulcer, Weight ... ORPHA:37
Melnick-Needles Syndrome
Vesicoureteral reflux, Short stature, Hydronephrosis ORPHA:2484
Giant Cell Arteritis
Renal insufficiency, Alopecia, Anorexia, Abdominal pain, Weight loss, Hematuria, Depression, Gast... ORPHA:397
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Renal dysplasia, Ureteral duplication, Sparse scalp hair, Fair hair, Short stature, Rhizomelia, S... OMIM:266920
Beckwith-Wiedemann Syndrome
Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Large for gestational... ORPHA:116
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Qazi-Markouizos Syndrome
Chronic constipation, Abdominal distention, Small nail, Cryptorchidism ORPHA:3010
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Diarrhea, Short stature, Anorexia ORPHA:49827
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Familial Melanoma
Abnormal hair morphology, Dry skin ORPHA:618
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Small for gestational age, Highly arched eyebrow, Unilateral renal agenesis, Sp... OMIM:618419
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity, Alopecia, Hypospadias, Supernumerary nipple ORPHA:3224
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Postnatal growth retardation, Generalized aminoaciduria, Hypocalcemia, Protuberant... ORPHA:289157
Autosomal Recessive Spastic Paraplegia Type 20
Short stature, Dysuria, Growth delay, Constipation, Dysphagia, Hydronephrosis ORPHA:101000
Melnick-Needles Syndrome
Ureteral stenosis, Coarse hair, Frontal hirsutism, Failure to thrive, Hydronephrosis OMIM:309350
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Aggressive behavior, Bruxism, Urinary retention, Neutropenia, Sparse h... OMIM:617799
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Crypto... ORPHA:2473
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Renal cyst, Vomiting, Hypoalbuminemia, Gastroesophageal reflux, Hyp... OMIM:270400
Acute Promyelocytic Leukemia
Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Weight loss, Hematuria, Leukopenia, Anemi... ORPHA:520
Nicolaides-Baraitser Syndrome
Alopecia, Severe short stature, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Cr... ORPHA:3051
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Constipation, Gastroesophageal reflux, Sparse hair, Hydronephrosis OMIM:616449
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Short stature, Renal salt wasting, Long penis, Hirsutism, Irregular menstruation, Testi... ORPHA:90795
Leopard Syndrome 2
Curly hair, Dry skin OMIM:611554
Idiopathic Congenital Hypothyroidism
Feeding difficulties in infancy, Lethargy, Constipation, Neonatal hyperbilirubinemia ORPHA:95717
Verheij Syndrome
Renal agenesis, Small for gestational age, Short stature, Renal hypoplasia, Renal cyst, Feeding d... OMIM:615583
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Non-Functioning Paraganglioma
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... ORPHA:94080
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Dehydrati... ORPHA:168558
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia, Increased circulating reni... OMIM:214700
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Ectopic kidney, Cryptorchidism, Horseshoe kidney, Hypoalbumine... OMIM:235510
Enteric Anendocrinosis
Dehydration ORPHA:83620
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction, Growth delay ORPHA:1826
Mucopolysaccharidosis, Type Vii
Thick eyebrow, Severe short stature, Short stature, Heparan sulfate excretion in urine, Postnatal... OMIM:253220
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Spinocerebellar Ataxia Type 34
Dry skin ORPHA:1955
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Bardet-Biedl Syndrome 3
Obesity, Renal hypoplasia OMIM:600151
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... OMIM:615237
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Curly eyelashes, Ectopic kidney, Highly arched eyebrow, Short stature, ... OMIM:122470
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Dehydrati... ORPHA:289548
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Constipation, Vomiting, Enterocolitis OMIM:142623
Biotinidase Deficiency
Lethargy, Alopecia, Organic aciduria, Hyperammonemia ORPHA:79241
Wolman Disease
Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Growth delay, Hepatic failure ORPHA:75233
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Dry skin ORPHA:95715
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Abdominal distention, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hypere... OMIM:619351
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Short stature, Conjugated hyperbilirubinemia, Increased circulat... OMIM:619534
Rhabdoid Tumor
Hematuria, Renal neoplasm, Weight loss ORPHA:69077
Cap Polyposis
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Constipation ORPHA:160148
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction OMIM:193250
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Severe short stature, Rhizomelia, Elevated circulating phytanic acid concentration, Sev... OMIM:215100
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin OMIM:617066
Hypothyroidism, Congenital, Nongoitrous, 4
Dry skin OMIM:275100
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Xerostomia,... OMIM:614941
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Short stature, Feeding difficulties in infancy, Ab... OMIM:115150
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Aggressive behavior, Low anterior hairline, Hirsutism, Woolly hair, Dry sk... OMIM:619244
Primary Effusion Lymphoma
Abdominal distention, Abdominal pain ORPHA:48686
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Hypoalbuminemia, Renal cyst, Edema OMIM:602579
Joubert Syndrome 22
Intrauterine growth retardation, Renal hypoplasia OMIM:615665
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Increased body weight ORPHA:276608
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Obesity, Feeding difficulties, Vesic... OMIM:618653
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... ORPHA:2842
Tarp Syndrome
Horseshoe kidney, Hepatic failure, Intrauterine growth retardation, Failure to thrive, Hydronephr... OMIM:311900
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Meckel Syndrome 14
Abdominal distention, Polycystic kidney dysplasia, Protuberant abdomen OMIM:619879
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Glomerulonephritis, Chronic diarrhea, Ileus, Failure to thrive OMIM:304790
Marburg Hemorrhagic Fever
Reticulocytosis, Renal insufficiency, Lymphopenia, Elevated circulating creatine kinase concentra... ORPHA:99826
Dubowitz Syndrome
Sparse scalp hair, Hypospadias, Abnormality of neutrophils, Thrombocytopenia, Low anterior hairli... ORPHA:235
Ileal Neuroendocrine Tumor
Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abdominal pain, Weight ... ORPHA:100078
Pelvis-Shoulder Dysplasia
Short stature, Mesomelic/rhizomelic limb shortening, Neonatal short-trunk short stature, Facial h... ORPHA:2839
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Severe postnatal growth retardation, Alopecia, Severe short stature OMIM:203550
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short stature, Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Ren... OMIM:618454
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Abdom... ORPHA:653
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Fe... ORPHA:464311
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Renal hypoplasia/aplasia, Feed... ORPHA:819
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia, Urinary incontinence, Bowel incontinence OMIM:600142
Leopard Syndrome 3
Curly hair, Dry skin, Low posterior hairline OMIM:613707
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Hyperlipidemia, Stage 5 chronic kidney disease, Growth delay, Sparse hair OMIM:608612
Liver Disease, Severe Congenital
Dry hair, Aminoaciduria, Vomiting, Hypocalcemia, Elevated hepatic iron concentration, Hyponatremi... OMIM:619991
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention, Hydronephrosis, Urethral atresia OMIM:271520
Alpha-Heavy Chain Disease
Growth delay, Alopecia, Hypocalcemia, Abdominal pain ORPHA:100025
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Dependency on intravenous nutrition, Alopecia, Failure to thrive in infancy, Cachexia, Ileus, Sec... ORPHA:37042
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Cryptorchidism, Feeding difficulties, Aminoaciduria, Albuminuria, Dysphagia, Elevate... OMIM:214100
Congenital Disorder Of Glycosylation, Type It
Short stature, Elevated circulating creatine kinase concentration, Chronic diarrhea, Growth delay... OMIM:614921
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Renal agenesis, Postnatal growth retardation, Cryptorchidism, Growth delay, Constipa... OMIM:301040
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention, Urinary incontinence ORPHA:309256
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy ORPHA:330001
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis, Absent nipple OMIM:104350
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Ureteral duplication, Thick eyebrow ORPHA:457212
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Vomiting, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:600649
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse eyebrow, G... OMIM:615704
Microphthalmia, Syndromic 9
Renal malrotation, Severe short stature, Short stature, Cryptorchidism, Renal hypoplasia, Horsesh... OMIM:601186
Juvenile Dermatomyositis
Calcinosis, Alopecia, Palpebral edema, Elevated circulating creatine kinase concentration, Elevat... ORPHA:93672
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Abdominal distention, Diarrhea, Bloody diarrhea, Vomitin... ORPHA:391673
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Feeding difficulties in infancy, Abdominal distention, Constipation, P... ORPHA:226313
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Small for gestational age, Fine hair, Nail dystrophy, Sparse hair, T... OMIM:601675
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dy... ORPHA:1882
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Dry skin, Scaling skin OMIM:614457
Microscopic Polyangiitis
Nausea and vomiting, Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Abdominal ... ORPHA:727
Lujo Hemorrhagic Fever
Lymphopenia, Renal insufficiency, Generalized edema, Elevated circulating C-reactive protein conc... ORPHA:319213
Mucoepithelial Dysplasia, Hereditary
Alopecia, Chronic diarrhea, Melena, Hematuria, Coarse hair, Nail dystrophy, Nail dysplasia, Spars... OMIM:158310
Mosaic Trisomy 8
Decreased testicular size, Short stature, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis ORPHA:96061
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Abnormality of the urethra, Cryptorchidism, Hypogonadotropic hypogonadism, Infertility ORPHA:752
Achondrogenesis Type 1A
Abdominal distention, Severe short stature ORPHA:93299
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Failure to thrive, Sparse eyelashes, Increased circulating free fatty acid level, Spars... OMIM:610768
Satoyoshi Syndrome
Alopecia, Short stature, Diarrhea, Mildly elevated creatine kinase, Alopecia universalis, Amenorrhea OMIM:600705
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Cachexia, Abdominal pain, Testicular neoplasm, Abdominal distention, Ileus, ... ORPHA:83469
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Melanonychia, Intestinal obstruction, Abdominal pain, Abnormality of... ORPHA:2869
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Postnatal growth retardation, Intrauterine growth retardation, Hydronephrosis, Feeding difficulties ORPHA:254528
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Cryptorchidism, Gastroesophage... ORPHA:453499
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Short stature, Feeding difficulties, Unilateral breast hypoplasia, Hydronephrosi... OMIM:300968
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Obesity, Growth delay, Moderate albuminuria, Hydronephrosis OMIM:619269
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Abnormal erythrocyte enzyme level, Abnormal circula... ORPHA:101330
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias, Short stature ORPHA:2522
Dyrk1A-Related Intellectual Disability Syndrome
Small for gestational age, Hypospadias, Unilateral renal agenesis, Short stature, Cryptorchidism,... ORPHA:464306
Xeroderma Pigmentosum Variant
Dry skin ORPHA:90342
Harlequin Ichthyosis
Self-injurious behavior, Dehydration ORPHA:457
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Horseshoe kidney,... ORPHA:391641
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Short stature, Abnormality of the ureter, Abnormal hair pattern, Renal hypoplasia/aplasia ORPHA:1770
Hereditary Orotic Aciduria
Orotic acid crystalluria, Abnormality of the ureter, Aminoaciduria, Abnormal toenail morphology, ... ORPHA:30
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Dry skin, Eosinophilia OMIM:618282
Mungan Syndrome
Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Abdominal pain, Renal hypoplasia, ... OMIM:611376
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Vomi... ORPHA:556037
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Intrauterine growth re... ORPHA:2470
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention, Severe short stature OMIM:619345
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Obesity, Enuresis, Self-injuriou... ORPHA:293987
Achondrogenesis, Type Ib
Abdominal distention, Neonatal short-limb short stature OMIM:600972
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Growth delay, Short stature, Glandular hypospadias ORPHA:1358
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hypospadias, Feeding difficulties in infancy, Lacticaciduria, Gro... OMIM:252010
Folinic Acid-Responsive Seizures
Abdominal distention ORPHA:79097
Metachromatic Leukodystrophy, Adult Form
Abdominal distention, Urinary incontinence, Bowel incontinence, Depression ORPHA:309271
Encephalitis Lethargica
Lethargy, Urinary incontinence, Bowel incontinence ORPHA:83600
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia, Oligohydramnios OMIM:619053
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circu... OMIM:620306
Au-Kline Syndrome
Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Fee... OMIM:616580
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Gastroesophageal reflux, Vesicouretera... ORPHA:2059
Ethylene Glycol Poisoning
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... ORPHA:31826
Focal Myositis
Weight loss ORPHA:48918
Thyroid Dyshormonogenesis 1
Growth delay, Lethargy, Constipation OMIM:274400
Autosomal Dominant Progressive External Ophthalmoplegia
Bipolar affective disorder, Gastroparesis, Elevated circulating creatine kinase concentration, De... ORPHA:254892
Recon Progeroid Syndrome
Thrombocytopenia, Hirsutism, Absent lower eyelashes, Scaling skin, Dry skin, Anemia OMIM:620370
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Hydronephrosis OMIM:265380
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Dysphagia, Hyperphenylalaninemia OMIM:233910
Hyperphosphatasia-Intellectual Disability Syndrome
Supernumerary nipple, Highly arched eyebrow, Growth delay, Small nail, Hydronephrosis, Gastrostom... ORPHA:247262
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
8P Inverted Duplication/Deletion Syndrome
Frontal balding, Cryptorchidism, Synophrys, Abnormality of the urinary system, Micropenis, Hydron... ORPHA:96092
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Short stature, Renal hypoplasia, Abdominal obesity, Hypoplasia of the ovary, Azotemia, ... OMIM:619321
Alg9-Cdg
Hypoplasia of the bladder, Rhizomelia, Ureteral hypoplasia, Diarrhea, Low posterior hairline, Hyp... ORPHA:79328
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Dehydration, Pallor, Thin ... ORPHA:2131
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Abnormal circulating creatine kinase concentrat... OMIM:615838
Noonan Syndrome 14
Curly hair, Lymphopenia, Polyhydramnios, Sparse eyebrow, Low posterior hairline, Sparse hair, Dry... OMIM:619745
Takenouchi-Kosaki Syndrome
Hypospadias, Highly arched eyebrow, Unilateral renal agenesis, Sparse eyebrow, Cryptorchidism, Sy... OMIM:616737
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention, Urinary incontinence ORPHA:309263
Inflammatory Pseudotumor Of The Liver
Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Abdominal distention, Weigh... ORPHA:90003
Ovarian Fibrothecoma
Abdominal distention, Metrorrhagia, Hirsutism, Abdominal pain ORPHA:314478
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Anuria, Edema, Leukocytosis, Hyperkalemia, Oliguria, Pleural empy... ORPHA:544482
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Cryptorchidism, Horseshoe kidney, Multiple renal cysts, Sma... ORPHA:99776
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Metrorrhagia, Elevated carcinoma antigen 125 level, Elevated circulating alp... ORPHA:370348
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney ORPHA:93260
Pyruvate Dehydrogenase Deficiency
Feeding difficulties in infancy, Intrauterine growth retardation, Growth delay, Lethargy ORPHA:765
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Palpebral edema, Unilateral renal agenesis, Sparse axillary hair, Sparse pub... OMIM:181270
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... OMIM:618733
Kanzaki Disease
Lymphedema, Increased urinary O-linked sialopeptides, Aminoaciduria, Dry skin, Petechiae OMIM:609242
12Q14 Microdeletion Syndrome
Short stature, Ectopic kidney, Synophrys, Renal hypoplasia, Horseshoe kidney, Intrauterine growth... ORPHA:94063
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retardation, Paten... OMIM:192350
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder OMIM:601389
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Central Neurocytoma
Nausea and vomiting, Lethargy, Depression ORPHA:73256
Typhoid
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Constipation, Lethargy ORPHA:99745
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Brittle hair, Proteinuria, Alopecia, Coarse ha... ORPHA:2750
Diphallia
Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe... ORPHA:227
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Thick eyebrow OMIM:620047
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Nail dystrophy, Nail dysplasia ORPHA:79397
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Lethargy, Vomiting, Hyperammonemia OMIM:616483
Musculocontractural Ehlers-Danlos Syndrome
Cryptorchidism, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Constip... ORPHA:2953
Chylomicron Retention Disease
Hypertriglyceridemia, Abdominal distention, Diarrhea, Growth delay, Vomiting, Hypocholesterolemia... ORPHA:71
Microsporidiosis
Cachexia, Anorexia, Abnormality of the spleen, Urethritis, Dehydration, Weight loss, Abnormality ... ORPHA:2552
Systemic Sclerosis
Renal insufficiency, Alopecia, Gastroparesis, Elevated circulating creatine kinase concentration,... ORPHA:90291
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Fine hair, Truncal obesity, Aplasia/Hypoplasia of the eyebrow, Attention deficit hyperactivity di... ORPHA:2637
Keratoderma Hereditarium Mutilans
Alopecia, Hypogonadotropic hypogonadism, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Huntington Disease-Like 2
Weight loss OMIM:606438
Combined Oxidative Phosphorylation Deficiency 53
Abdominal distention, Failure to thrive, Short stature, Elevated circulating C-reactive protein c... OMIM:619423
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Violent behavior, Highly arched eyebrow, Large for gestational age,... OMIM:280000
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Dry skin OMIM:268020
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Ascites, Polycystic kidney dysplasia, Edema OMIM:608776
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... OMIM:607323
Ogden Syndrome
Postnatal growth retardation, Cryptorchidism, Fine hair, Lethargy, Aplasia/Hypoplasia of the eyebrow ORPHA:276432
Familial Thyroid Dyshormonogenesis
Feeding difficulties in infancy, Constipation, Lethargy, Abnormal circulating thyroglobulin level... ORPHA:95716
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Nephrolithiasis, Hypercalciuria, ... ORPHA:652
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Conjugated hyperbilirubinemia, Abdominal distention, Hyperkalemia, Hyp... OMIM:618528
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Stage 5 chronic kidney disease, Ureteral atresia, Polycystic kidney dysplasi... OMIM:208540
Mucolipidosis Ii Alpha/Beta
Brittle hair, Increased serum beta-hexosaminidase, Sparse eyebrow, Growth delay, Severe postnatal... OMIM:252500
Hurler Syndrome
Short stature, Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine, Urinary g... OMIM:607014
Multifocal Atrial Tachycardia
Feeding difficulties in infancy, Cryptorchidism, Lethargy ORPHA:3282
Cat Eye Syndrome
Short stature, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis OMIM:115470
Gabriele-De Vries Syndrome
Small for gestational age, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Sparse eye... ORPHA:506358
Tarp Syndrome
Abnormal hair pattern, Cryptorchidism, Horseshoe kidney, Intrauterine growth retardation, Failure... ORPHA:2886
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Polyembryoma
Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Abdominal distention, Irreg... ORPHA:180229
Netherton Syndrome
Hypernatremic dehydration, Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, A... OMIM:256500
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Anorexia, Abdominal pain, Cachexia, Diarrhea, Hematochezia, Hypokalemia, Vomiting, Hypo... OMIM:175500
Hemochromatosis, Type 1
Alopecia, Hypogonadotropic hypogonadism, Abdominal pain, Increased circulating ferritin concentra... OMIM:235200
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Feeding difficulties, Growth delay, Dysphagia, Ureteropelvic junction obstruc... OMIM:616973
Malignant Peritoneal Mesothelioma
Weight loss, Abdominal distention, Ileus, Abdominal pain ORPHA:168811
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Short stature, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-... OMIM:308050
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair, Short stature, Intrauterine growth retardation, Failure to thrive ORPHA:50812
Insulin-Resistance Syndrome Type B
Alopecia, Proteinuria, Abnormality of body weight, Abnormal circulating fatty-acid concentration,... ORPHA:2298
Amelo-Onycho-Hypohidrotic Syndrome
Dry skin, Fine hair ORPHA:1028
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Enlarged kidney, Cystic renal dysplasia, Hepatic cysts, Oligohydramnios OMIM:615415
Cranioectodermal Dysplasia 1
Slow-growing hair, Thin nail, Short nail, Rhizomelia, Renal magnesium wasting, Chronic kidney dis... OMIM:218330
Alagille Syndrome 1
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Stage 5... OMIM:118450
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Postnatal growth retardation, ... ORPHA:96179
Cockayne Syndrome B
Renal insufficiency, Dry hair, Proteinuria, Failure to thrive, Small for gestational age, Abnorma... OMIM:133540
Fanconi Anemia, Complementation Group I
Short stature, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Decreased body weig... OMIM:609053
Majeed Syndrome
Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Weight loss, Failure to thrive ORPHA:77297
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Frontal balding, Renal salt wasting, Long penis, Hyperkalemia, Hirsutism, Dehydrati... ORPHA:90794
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain ORPHA:168829
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Short stature, Cryptorchidism, Renal hypoplasia ORPHA:1307
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Facial edema, Dry skin, Attention deficit hyperactivity disorder, Hypercholest... ORPHA:90674
Renal Nutcracker Syndrome
Dyspareunia, Proteinuria, Dysmenorrhea, Abdominal pain, Weight loss, Hematuria, Renal artery sten... ORPHA:71273
Jung Syndrome
Dry skin, Low posterior hairline ORPHA:2321
Peroxisome Biogenesis Disorder 4B
Decreased liver function, Ureterocele OMIM:614863
Niemann-Pick Disease, Type A
Short stature, Feeding difficulties in infancy, Constipation, Vomiting, Protuberant abdomen, Fail... OMIM:257200
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Hypoplastic toenails, Lethargy, Feeding difficulties OMIM:604377
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Distal Deletion 12Q
Failure to thrive in infancy, Short stature, Unilateral cryptorchidism, Ectopic kidney, Obesity, ... ORPHA:96149
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy, Scaling skin, Dry skin OMIM:618373
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Nephrolithias... ORPHA:2785
Peroxisome Biogenesis Disorder 4A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Renal cyst OMIM:614862
Primary Sjögren Syndrome
Normocytic anemia, Lymphopenia, Renal insufficiency, Abnormality of the kidney, Glomerulonephriti... ORPHA:289390
Gonadoblastoma
Abdominal distention, Hirsutism, Abdominal pain ORPHA:206484
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal insufficiency, Hypoplasia of penis, Short stature, Cryptorchidism, Renal hypoplasia, Renal ... ORPHA:85321
Cenani-Lenz Syndactyly Syndrome
Anonychia, Renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:212780
Focal Dermal Hypoplasia
Acute hepatic failure, Multicystic kidney dysplasia, Alopecia, Renal hypoplasia/aplasia, Abdomina... ORPHA:2092
Congenital Tufting Enteropathy
Failure to thrive, Dehydration, Weight loss ORPHA:92050
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Susac Syndrome
Nausea and vomiting, Lethargy, Apathy ORPHA:838
Monosomy 22Q13.3
Nausea and vomiting, Renal dysplasia, Hypoplastic toenails, Obesity, Feeding difficulties, Gastro... ORPHA:48652
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, ... ORPHA:466650
Campomelia, Cumming Type
Multicystic kidney dysplasia, Lymphedema, Pancreatic cysts, Hydrops fetalis, Multiple renal cysts... ORPHA:1318
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Short stature, Cryptorchidism, Growth delay, Nail dys... ORPHA:1867
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Sparse hair, Dry skin OMIM:607626
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Vomiting, Hyperglycinemia OMIM:614299
Bartsocas-Papas Syndrome
Alopecia totalis, Renal hypoplasia/aplasia, Hypoplastic toenails, Sparse or absent eyelashes, Apl... ORPHA:1234
Vipoma
Hypercalcemia, Anorexia, Erythema, Dehydration, Weight loss, Hypokalemia, Normochromic anemia, As... ORPHA:97282
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Short stature, Hypoplastic... OMIM:619522
Odontoonychodermal Dysplasia
Sparse scalp hair, Dry hair, Short nail, Sparse eyebrow, Erythema, Fine hair, Palmoplantar erythe... OMIM:257980
7Q11.23 Microduplication Syndrome
Hypospadias, Short stature, Unilateral renal agenesis, Sparse anterior scalp hair, Cryptorchidism... ORPHA:96121
Trisomy 18
Short stature, Abnormality of the upper urinary tract, Cachexia, Cryptorchidism, Growth delay, In... ORPHA:3380
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Dysmenor... ORPHA:79240
Dengue Fever
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Lethargy, Hypoprotein... ORPHA:99828
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair OMIM:614940
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concent... OMIM:242150
Craniofacioskeletal Syndrome
Hypospadias, Short stature, Cryptorchidism, Hypocalcemia, Intrauterine growth retardation, Hydron... OMIM:300712
Ulnar-Mammary Syndrome
Hypoplasia of penis, Abnormal fingernail morphology, Short stature, Hypoplastic toenails, Cryptor... ORPHA:3138
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Hypogonadism, Sparse hair, Fail... ORPHA:2316
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Postnatal growth r... OMIM:620366
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypospadias, Feeding difficulties, Disproportionate short-limb short stature, Protuberant abdomen... OMIM:619479
Alg11-Cdg
Failure to thrive, Dry skin ORPHA:280071
Bladder Exstrophy
Recurrent urinary tract infections, Hypoplasia of penis, Bowel incontinence, Epispadias, Abnormal... ORPHA:93930
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hypopigmentation of hair, Short s... ORPHA:818
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:276621
Fryns Syndrome
Ureteral duplication, Hypospadias, Renal agenesis, Large for gestational age, Cryptorchidism, Ren... OMIM:229850
Peeling Skin Syndrome 6
Dry skin, Scaling skin OMIM:618084
Opsismodysplasia
Rhizomelia, Renal phosphate wasting, Disproportionate short-limb short stature, Protuberant abdom... OMIM:258480
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Short stature, Diarrhea, Int... OMIM:251260
Short Stature, Microcephaly, And Endocrine Dysfunction
Short stature, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Trunc... OMIM:616541
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Hypospadias, Sparse eyebrow, Constipation, Male urethral meatus stenosis, Hydr... ORPHA:464738
3Mc Syndrome 1
Supernumerary nipple, Highly arched eyebrow, Postnatal growth retardation, Synophrys, Growth dela... OMIM:257920
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Short stature, Abnormal ey... ORPHA:1775
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Failure to thrive, Intermittent thrombocytopenia, Erythroid h... OMIM:612541
Mast Cell Sarcoma
Weight loss ORPHA:66661
Histiocytoid Cardiomyopathy
Lethargy, Failure to thrive, Vomiting, Renal cyst ORPHA:137675
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Small for gestational age, Protuberant abdomen, Disproportionate short-trunk short stature OMIM:613330
Kabuki Syndrome 1
Crossed fused renal ectopia, Short stature, Highly arched eyebrow, Feeding difficulties in infanc... OMIM:147920
Okamoto Syndrome
Urinary incontinence, Extension of hair growth on temples to lateral eyebrow, Unilateral renal hy... ORPHA:2729
Fraser Syndrome 3
Ureteral agenesis, Hypoplasia of the bladder, Hypoplasia of penis, Bilateral renal agenesis OMIM:617667
Thakker-Donnai Syndrome
Intrauterine growth retardation, Hydronephrosis ORPHA:1780
9P13 Microdeletion Syndrome
Highly arched eyebrow, Attention deficit hyperactivity disorder, Bruxism, Dry skin, Thick eyebrow ORPHA:324313
Hajdu-Cheney Syndrome
Failure to thrive, Hypospadias, Splenomegaly, Synophrys, Low anterior hairline, Skin ulcer, Coars... ORPHA:955
Alagille Syndrome
Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Nephrotic syndrome, Delayed ... ORPHA:52
Fatal Familial Insomnia
Urinary retention, Weight loss OMIM:600072
Cousin Syndrome
Rhizomelia, Disproportionate short stature, Low anterior hairline, Facial hirsutism, Hydronephrosis OMIM:260660
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Synophrys, Facial erythema, Hypocalcemia, Scaling skin, Micropenis, Pelvic kidney,... OMIM:619503
Blau Syndrome
Clear cell renal cell carcinoma, Splenomegaly, Erythema, Xerostomia, Stage 5 chronic kidney disea... ORPHA:90340
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Short stature, Cryptorchidism, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydrone... ORPHA:163979
Björnstad Syndrome
Alopecia, Brittle hair, Hypogonadism ORPHA:123
Fanconi Anemia, Complementation Group W
Growth delay, Intrauterine growth retardation, Renal hypoplasia OMIM:617784
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia, Short stature, Hypogonadotropic hypogonadism, Delayed puberty OMIM:612079
Diamond-Blackfan Anemia
Renal agenesis, Small for gestational age, Hypospadias, Short stature, Low anterior hairline, Hor... ORPHA:124
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Short stature, Renal hypoplasia, Renal cyst, Fine hair, Polycystic kidney dysplasia,... OMIM:614091
Ablepharon Macrostomia Syndrome
Absent eyebrow, Hypoplasia of penis, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fin... ORPHA:920
Vitamin D-Dependent Rickets, Type 2A
Growth delay, Hypocalcemic seizures, Protuberant abdomen, Hypophosphatemia, Failure to thrive, Al... OMIM:277440
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Hypoplastic nipples, Dry skin,... ORPHA:978
Vacterl Association With Hydrocephalus
Stillbirth, Renal hypoplasia OMIM:276950
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Nephropathy, Alopecia, Gastroesophageal reflux ORPHA:809
X-Linked Agammaglobulinemia
Alopecia, Short stature, Chronic diarrhea, Weight loss, Hypocalcemia, Failure to thrive ORPHA:47
Yao Syndrome
Nephrolithiasis, Weight loss OMIM:617321
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Feeding difficulti... ORPHA:3339
Branchioskeletogenital Syndrome
Ureteral stenosis, Absent nipple, Highly arched eyebrow, Synophrys, Micropenis, Bladder exstrophy... ORPHA:1299
Opitz Gbbb Syndrome
Hypospadias, Short stature, Feeding difficulties in infancy, Cryptorchidism, Widow's peak, Abnorm... ORPHA:2745
Menkes Disease
Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Short stature, Sparse ... OMIM:309400
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Hypogonadism, Oligomenorrhea, Infertility, Dysphagia, Delayed menarche ORPHA:412057
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating alpha-fetoprotein concentration, Anorexia, Abdominal distention, Diarrhea, E... ORPHA:100085
Perry Syndrome
Weight loss ORPHA:178509
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Ureteral stenosis, Renal hypoplasia, Intrauterine growth retardation OMIM:270100
Cockayne Syndrome A
Renal insufficiency, Dry hair, Proteinuria, Failure to thrive, Splenomegaly, Sparse hair, Micrope... OMIM:216400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Dysuria, Anorexia, Oral-pharyngeal dysphagia, Trichiasis, Abdominal di... ORPHA:95455
Dend Syndrome
Elevated hemoglobin A1c, Dehydration ORPHA:79134
Adams-Oliver Syndrome 6
Hypoplastic toenails, Renal hypoplasia OMIM:616589
Follicular Lymphoma
Weight loss ORPHA:545
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Nasogast... OMIM:106260
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Facial erythema, Nail dystro... ORPHA:1010
Campomelic Dysplasia
Short stature, Hydronephrosis ORPHA:140
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Fanconi Anemia, Complementation Group F
Short stature, Cryptorchidism, Renal hypoplasia, Pelvic kidney, Microphallus, Vesicoureteral refl... OMIM:603467
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Alopecia, Small for gestational age, Hypospadias, Testicular ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Alopecia, Small for gestational age, Hypospadias, Testicular ... ORPHA:363958
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Hypoplastic nipples, Protuberant abdomen, Intrauterine growth retardation, Cyst... OMIM:269860
Gomez-Lopez-Hernandez Syndrome
Alopecia, Bipolar affective disorder, Short stature, Depression OMIM:601853
Jacobsen Syndrome
Multicystic kidney dysplasia, Bipolar affective disorder, Short stature, Feeding difficulties in ... ORPHA:2308
Xeroderma Pigmentosum
Alopecia, Erythema, Dry skin, Aminoaciduria, Failure to thrive ORPHA:910
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... ORPHA:322
Mody
Abnormality of the kidney, Elevated hemoglobin A1c, Abnormal circulating C-peptide concentration,... ORPHA:552
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Abnormal circulating thyroglobulin level, Dry skin ORPHA:99832
Polyarteritis Nodosa
Abnormality of the kidney, Weight loss ORPHA:767
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Short stature, Cryptorchidism, Abnormality of the ureter, Intrauterine growth retard... ORPHA:2311
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Abdominal distention, Intrauterine growth retardation, Gastroesophageal reflux, Feeding difficulties OMIM:620275
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomiting, Lethargy, Failure to t... OMIM:620233
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention, Cachexia ORPHA:1876
Hallermann-Streiff Syndrome
Sparse scalp hair, Hyperactivity, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Fi... OMIM:234100
Cystic Fibrosis
Failure to thrive, Hypercalciuria, Dehydration, Hepatosplenomegaly OMIM:219700
Trichothiodystrophy
Sparse scalp hair, Brittle hair, Increased mean corpuscular hemoglobin concentration, Dry skin, N... ORPHA:33364
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst, Generalized edema OMIM:617478
Floating-Harbor Syndrome
Small for gestational age, Hypospadias, Renal agenesis, Short stature, Cryptorchidism, Dilatation... ORPHA:2044
Juvenile Huntington Disease
Weight loss ORPHA:248111
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Edema, Lymphedema, Abnormal eyelash morphology, Abnormal hair morphology, Leukonych... ORPHA:2526
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Dry skin, Leukopenia, B lymphocytopenia, Neutropenia, Lympho... ORPHA:508542
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Abdominal distention, Cryptorchidism, Renal hypoplas... ORPHA:93271
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Atypical Werner Syndrome
Abnormal hair whorl, Premature graying of hair, Renal neoplasm, Alopecia, Premature ovarian insuf... ORPHA:79474
Dyskeratosis Congenita, X-Linked
Ridged nail, Split nail, Alopecia, Hypospadias, Sparse eyelashes, Short stature, Phimosis, Crypto... OMIM:305000
Pleural Mesothelioma
Weight loss ORPHA:50251
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, Vomiting, Dysphagia... ORPHA:319218
Mucopolysaccharidosis Type 3
Thick hair, Heparan sulfate excretion in urine, Synophrys, Coarse hair, Mucopolysacchariduria, Co... ORPHA:581
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Feeding difficulties in infancy, Hypocalcemia, Lethargy, Poor suck,... ORPHA:746
Phakomatosis Pigmentokeratotica
Cryptorchidism, Renal transitional cell carcinoma, Unilateral renal hypoplasia, Patchy alopecia, ... ORPHA:2874
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gastroparesis, Intestinal pseudo-obstruction, Supernumerary nipple, Feeding difficulties in infan... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gastroparesis, Intestinal pseudo-obstruction, Supernumerary nipple, Feeding difficulties in infan... ORPHA:352665
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Short stature ORPHA:88630
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Renal angiom... OMIM:613254
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Woodhouse-Sakati Syndrome
Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog... OMIM:241080
Hypomelanosis Of Ito
Alopecia OMIM:300337
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglycer... OMIM:278000
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Polycystic kidney dysplasia, Oligohydramnios OMIM:263210
Aneurysm Of Sinus Of Valsalva
Oliguria, Edema ORPHA:1054
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Weight loss ORPHA:90060
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain OMIM:277320
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Tangier Disease
Hypertriglyceridemia, Thrombocytopenia, Hepatosplenomegaly, Nail dystrophy, Hypocholesterolemia, ... ORPHA:31150
Turner Syndrome Due To Structural X Chromosome Anomalies
Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inf... ORPHA:99413
Argininemia
Anorexia, Postnatal growth retardation, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Vomiti... OMIM:207800
Mosaic Monosomy X
Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inf... ORPHA:99228
Monosomy X
Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inf... ORPHA:99226
Turner Syndrome
Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inf... ORPHA:881
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Adult Syndrome
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Dry skin, Hypoplastic nipples,... OMIM:103285
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Cryptorchidism, Coarse hair, Intrauterine growth retardation, Micro... ORPHA:83617
Poland Syndrome
Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypopl... ORPHA:2911
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Multicystic kidney dysplasia, Alopecia, Renal agenesis, Hypospadias, Unilateral r... OMIM:308205
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia ORPHA:346
Ichthyosis, Congenital, Autosomal Recessive 6
Dry skin, Scaling skin OMIM:612281
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:26791
Congenital Ichthyosiform Erythroderma
Alopecia, Failure to thrive, Short stature, Abnormality of the nail ORPHA:79394
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Ectopic kidney, Absent eyelashes, ... OMIM:263650
Rubinstein-Taybi Syndrome 1
Feeding difficulties in infancy, Bilateral cryptorchidism, Low anterior hairline, Gastroesophagea... OMIM:180849
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Pfapa Syndrome
Weight loss ORPHA:42642
Naegeli-Franceschetti-Jadassohn Syndrome
Dry skin, Decreased number of sweat glands, Nail dystrophy, Dystrophic toenail ORPHA:69087
Isolated Succinate-Coq Reductase Deficiency
Vesicoureteral reflux, Weight loss ORPHA:3208
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Highly arched eyebrow, Unilateral renal agenesis, Sparse eyebrow, Postnatal growth r... ORPHA:487796
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Cryptorchidism, Fine hair, Hypogonadism, Intrauterine growth retardation ORPHA:228390
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Feeding difficulties OMIM:618232
Trisomy 8P
Cryptorchidism, Fetal pyelectasis, Low posterior hairline, Nephrocalcinosis, Constipation, Microp... ORPHA:264450
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Hypergonadotropic hypogo... ORPHA:2232
Monosomy 9P
Hypospadias, Thin nail, Highly arched eyebrow, Cryptorchidism, Synophrys, Low posterior hairline,... ORPHA:261112
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Impulsivity, Chronic kidney disease, Aplasia of the sweat glands, Dys... ORPHA:642
Systemic Lupus Erythematosus
Alopecia, Proteinuria, Lupus nephritis, Pyuria, Depression, Hematuria ORPHA:536
Pyomyositis
Renal insufficiency, Weight loss ORPHA:764
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... OMIM:305100
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:29072
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Skin Creases, Congenital Symmetric Circumferential, 2
Short stature, Hypospadias, Cryptorchidism, Synophrys, Low anterior hairline, Ureterocele OMIM:616734
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... OMIM:262000
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Large for gestational age, Renal cyst, Nephroblastoma, Bifid ureter, Renal dys... OMIM:617107
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Insulinoma
Lethargy, Increased body weight ORPHA:97279
Focal Dermal Hypoplasia
Ridged nail, Ureteral duplication, Brittle hair, Short stature, Supernumerary nipple, Cryptorchid... OMIM:305600
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Failure to thrive, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... OMIM:614008
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia OMIM:164180
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Short s... ORPHA:1606
Robinow Syndrome, Autosomal Recessive 1
Short stature, Cryptorchidism, Nephrolithiasis, Nephrocalcinosis, Long eyelashes, Small nail, Nai... OMIM:268310
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Disproportionate short-limb short stature ORPHA:85166
Knobloch Syndrome
Vesicoureteral reflux, Bifid ureter, Abnormal hair morphology ORPHA:1571
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Short stature, Renal p... ORPHA:289176
Robinow Syndrome
Multicystic kidney dysplasia, Small for gestational age, Short stature, Cryptorchidism, High ante... ORPHA:97360
Early Infantile Epileptic Encephalopathy
Absent thumbnail, Ureterocele, Micropenis, Failure to thrive, Renal dysplasia ORPHA:1934
Bloom Syndrome
Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Small for ... ORPHA:125
Cutis Laxa, Autosomal Recessive, Type Ic
Feeding difficulties, Growth delay, Gastroesophageal reflux, Multiple bladder diverticula, Hydron... OMIM:613177
Femoral-Facial Syndrome
Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:1988
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Short stature, Pilomatrixoma, Cryptorchidism, Ob... ORPHA:353281
Autosomal Recessive Robinow Syndrome
Alopecia, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Long eyelashes, Fing... ORPHA:1507
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Failure to thrive, Sparse eyelashes, Sparse eyebrow, Renal hypoplasia, Renal c... OMIM:210710
Woodhouse-Sakati Syndrome
Alopecia, Premature ovarian insufficiency, Streak ovary, Hyperlipidemia, Growth delay, Abnormal s... ORPHA:3464
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Bowel incontinence, Detrusor sphincter dys... ORPHA:573278
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short stature, Cryptorchidism, Patchy alopecia, Decreased body weight, Micropenis, Failure to thr... OMIM:300534
Kufor-Rakeb Syndrome
Urinary incontinence, Bowel incontinence, Bradykinesia, Apathy, Dysphagia, Lethargy ORPHA:306674
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney... OMIM:267010
Simple Cryoglobulinemia
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... ORPHA:91139
Menkes Disease
Hypopigmentation of hair, Bladder diverticulum, Sparse hair, Woolly hair, Dry skin ORPHA:565
Knobloch Syndrome 1
Duplicated collecting system, Alopecia of scalp, Horizontal eyebrow, Bifid ureter, Hydronephrosis... OMIM:267750
Schinzel-Giedion Syndrome
Streak ovary, Failure to thrive in infancy, Hypospadias, Generalized hypertrichosis, Abnormality ... ORPHA:798
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst, Elevated circulating ribitol concentration ORPHA:488618
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Dry skin, Scaling skin, Leukonychia OMIM:616295
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Short stature, Dilatation of the renal pelvis, Horseshoe... OMIM:274000
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... ORPHA:1018
Bullous Pemphigoid
Weight loss ORPHA:703
Ovarian Fibroma
Abdominal distention, Abdominal pain ORPHA:314473
Flynn-Aird Syndrome
Alopecia, Cachexia ORPHA:2047
Thyroid Hypoplasia
Growth delay, Abdominal distention, Constipation, Short stature ORPHA:95720
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias, Failure to thriv... OMIM:163950
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short stature, Protuberant abdomen OMIM:617102
Charge Syndrome
Short stature, Hypogonadotropic hypogonadism, Highly arched eyebrow, Feeding difficulties in infa... ORPHA:138
Brain-Lung-Thyroid Syndrome
Hyperactivity, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal drinking behavior, Com... ORPHA:209905
Systemic Lupus Erythematosus 17
Alopecia OMIM:301080
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Vesicoureteral reflux, Short stature, Renal hypoplasia OMIM:617660
Congenital Alveolar Capillary Dysplasia
Hydronephrosis ORPHA:210122
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair ORPHA:69735
Chime Syndrome
Hydronephrosis, Sparse hair, Abnormality of the kidney, Fine hair ORPHA:3474
Ectodermal Dysplasia-Skin Fragility Syndrome
Urethral stricture, Short stature, Chronic diarrhea, Nail dystrophy, Sparse hair, Failure to thri... ORPHA:158668
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Renal cyst, Nephrotic syndro... OMIM:212065
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Polyhydramnios OMIM:618829
Dermatomyositis
Abnormal hair quantity, Abnormal eosinophil morphology, Edema, Periorbital edema, Erythema, Skin ... ORPHA:221
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal... ORPHA:709
Bardet-Biedl Syndrome
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia ORPHA:110
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Highly arched eyebrow, Bilateral cryptorchidism, Feeding diff... OMIM:616268
Ring Chromosome 10 Syndrome
Cachexia, Renal hypoplasia/aplasia ORPHA:1438
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Hypopla... ORPHA:544488
Orofaciodigital Syndrome I
Alopecia, Dry hair, Proteinuria, Short stature, Polycystic kidney dysplasia, Sparse hair OMIM:311200
Barber-Say Syndrome
Dermal translucency, Absent nipple, Sparse eyelashes, Redundant skin, Sparse eyebrow, Low anterio... OMIM:209885
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Pachyonychia Congenita
Alopecia, Paronychia, Onychogryposis of toenails, Feeding difficulties, Fingernail dysplasia, Nai... ORPHA:2309
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Severe short stature, Disproportionate short-limb short stature, Protuberant abdomen OMIM:184250
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Weight loss ORPHA:139402
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,... ORPHA:821
Congenital Disorder Of Glycosylation, Type Iim
Vesicovaginal fistula, Gastroesophageal reflux, Intrauterine growth retardation, Ureteropelvic ju... OMIM:300896
Floating-Harbor Syndrome
Hypospadias, Short stature, Cryptorchidism, Glandular hypospadias, Low posterior hairline, Nephro... OMIM:136140
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Absent eyebrow, Hypertriglyceridemia, Hypospadias, Alopecia, Sparse eyelashes,... OMIM:264090
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Failure to thrive OMIM:616353
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Abdominal pain, Abdominal distention, Nausea, Hirsutism ORPHA:64739
Mandibuloacral Dysplasia
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth ret... ORPHA:2457
Short Syndrome
Alopecia, Severe short stature, Poor appetite, Weight loss, Sparse hair ORPHA:3163
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Rhizomelia, Feeding difficulties in infancy, Postnatal growth ... OMIM:261540
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Failure to thrive, Short stature, Reye syndrome-like episodes, Diarrhea, A... OMIM:256810
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Short stature, Gastroesophageal reflux, Nail dystrophy, Dysphagia, In... OMIM:620040
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Weight loss ORPHA:54251
Adrenocortical Carcinoma
Increased urinary cortisol level, Abnormality of urine homeostasis, Increased body weight, Weight... ORPHA:1501
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Eisenmenger Syndrome
Renal insufficiency, Elevated circulating C-reactive protein concentration, Abdominal distention,... ORPHA:97214
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased body weight, Hirsutism, Depression OMIM:615830
Ectodermal Dysplasia And Immunodeficiency 2
Sparse scalp hair, Failure to thrive, Splenomegaly, Aplasia of the sweat glands, Sparse hair, Dry... OMIM:612132
Monosomy 18P
Alopecia, Short stature, Low posterior hairline ORPHA:1598
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Ve... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Ve... ORPHA:353277
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Pilomatrixoma, Cryptorchidism, Horseshoe kid... ORPHA:3310
Peutz-Jeghers Syndrome
Abdominal pain, Abnormality of the ureter, Bloody diarrhea, Intestinal bleeding, Bladder polyp, P... OMIM:175200
Amoebiasis Due To Free-Living Amoebae
Intrarenal abscess, Vomiting, Nausea, Lethargy ORPHA:68
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... OMIM:612843
Osteosarcoma
Weight loss ORPHA:668
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Chylothorax, Pleural effu... ORPHA:3015
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Small for gestational age, Feeding difficulties, Intermittent diarrhea, Fai... ORPHA:2255
Ameloonychohypohidrotic Syndrome
Dry skin OMIM:104570
Apert Syndrome
Rhizomelic arm shortening, Hydronephrosis, Cryptorchidism OMIM:101200
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Mcdonough Syndrome
Cachexia ORPHA:2471
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy, Vomiting, Dysphagia OMIM:607483
Pemphigus Vulgaris
Weight loss ORPHA:704
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Small nail OMIM:614219
Evans Syndrome
Lethargy ORPHA:1959
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Lethargy OMIM:608643
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Alopecia, Hypogonadotropic hypogonadism, Decreased testicular size ORPHA:453533
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Multicystic kidney dysplasia, Elevated circulating creatine kinase con... OMIM:615287
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Moderate postnatal growth retardation, Sparse hair, Intrauterine ... ORPHA:1005
Microphthalmia, Syndromic 1
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplasia, Growth delay OMIM:309800
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Thymic Carcinoma
Weight loss ORPHA:99868
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Nephroblastoma, Bifid... ORPHA:500095
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Lethargy, Diarrhea, Episodic vomiting, Vomiting OMIM:618321
Rothmund-Thomson Syndrome
Calcinosis, Small for gestational age, Sparse eyelashes, Alopecia totalis, Short stature, Sparse ... ORPHA:2909
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Redundant skin, Absent eyelashes, Premature skin wrinkling, Hypoplastic nipples, ... OMIM:200110
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Proboscis Lateralis
Abnormal eyebrow morphology, Abnormal location of the eyebrow, Unilateral renal agenesis, Uretera... ORPHA:141099
Genetic Transient Congenital Hypothyroidism
Lethargy, Constipation, Increased circulating thyroglobulin level, Feeding difficulties ORPHA:226316
Hereditary Spherocytosis
Growth delay, Abdominal distention, Hyperbilirubinemia, Abdominal pain ORPHA:822
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Pancreatic cysts, Chronic kidney... OMIM:208500
Staphylococcal Necrotizing Pneumonia
Lethargy, Elevated circulating C-reactive protein concentration ORPHA:36238
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Short stature, Decreased serum iron, Cryptorchidism, Nephrolithiasis, Feeding difficulties, Const... ORPHA:438213
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Weight... ORPHA:677
Yellow Fever
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Abdominal pain, ... ORPHA:99829
Familial Glucocorticoid Deficiency
Recurrent urinary tract infections, Renal salt wasting, Weight loss, Hypernatriuria, Failure to t... ORPHA:361
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia, Cryptorchidism ORPHA:564
X-Linked Acrogigantism
Abdominal distention, Increased body mass index, Hypogonadism, Delayed puberty ORPHA:300373
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Feeding difficulties in infancy, Abdominal distention,... OMIM:218700
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Proteinuria, Weight loss, Hematuria, Tubulointerstitial neph... ORPHA:183
Chronic Graft Versus Host Disease
Alopecia, Anorexia, Abdominal pain, Phimosis, Urinary bladder inflammation, Diarrhea, Weight loss... ORPHA:99921
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow OMIM:614564
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Dry skin, Trichiasis, Trichodysplasia OMIM:601701
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dry skin, Dystrophic fingernails, Sparse body... OMIM:150400
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H... OMIM:607823
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Intrauterine growth retardation, Failure to thrive, Glycosuria OMIM:600001
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Cryptorchidism, Patchy alopecia, Short stature, Decreased testicular size ORPHA:85279
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia OMIM:220500
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
Satoyoshi Syndrome
Short stature, Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of the ovary, Alo... ORPHA:3130
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Disproportionate short stature, Severe short stature ORPHA:93352
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Feeding difficulties in infancy, Constipation, Letharg... ORPHA:90673
Johanson-Blizzard Syndrome
Sparse scalp hair, Fair hair, Small for gestational age, Hypospadias, Increased VLDL cholesterol ... OMIM:243800
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Weight loss ORPHA:97289
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Small for gestational age, Sparse eyelashes, Short s... OMIM:268400
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Dry skin, Cachexia ORPHA:220295
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Cystic Echinococcosis
Renal cyst, Membranous nephropathy, Ovarian cyst, Hyperbilirubinemia, Hepatic cysts ORPHA:400
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce... OMIM:309000
Rothmund-Thomson Syndrome Type 1
Calcinosis, Premature ovarian insufficiency, Small for gestational age, Alopecia totalis, Short s... ORPHA:221008
Pelizaeus-Merzbacher Disease
Abnormality of the urinary system, Failure to thrive in infancy, Cachexia ORPHA:702
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse ha... ORPHA:974
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Peroxisome Biogenesis Disorder 2A (Zellweger)
Elevated circulating long chain fatty acid concentration, Aminoaciduria, Palpebral edema, Polycys... OMIM:214110
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Disproportionate short-limb short stature, Protuberant abdomen OMIM:187600
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia OMIM:242300
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney OMIM:612284
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Bipolar affective disorder, Short stature, Unilateral renal... OMIM:188400
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Relapsing Polychondritis
Glomerulopathy, Renal insufficiency, Alopecia, Proteinuria, Hematuria ORPHA:728
Mesomelia-Synostoses Syndrome
Mesomelic short stature, Hydronephrosis OMIM:600383
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Abdominal distention, Bloody diarrhea, Nail dystrophy, Sparse hair, Intrauterine ... ORPHA:436252
Mowat-Wilson Syndrome
Hypospadias, Abnormality of the kidney, Supernumerary nipple, Short stature, Abdominal distention... OMIM:235730
Schwartz-Jampel Syndrome
Decreased testicular size, Abnormal eyebrow morphology, Short stature, Elevated circulating creat... ORPHA:800
African Trypanosomiasis
Renal insufficiency, Alopecia, Urinary incontinence, Abnormality of the menstrual cycle, Diarrhea... ORPHA:3385
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Disproportionate short-limb short stature OMIM:602557
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Malnutrition, Growth delay, Constipation, Nail dystrophy, Nail dysplasia, Dysphagia OMIM:226600
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Abnormal fingernail morphology, Toenail dyspla... ORPHA:79500
Christianson Syndrome
Cachexia ORPHA:85278
Imerslund-Gräsbeck Syndrome
Failure to thrive, Proteinuria, Weight loss ORPHA:35858
Viss Syndrome
Sparse scalp hair, Alopecia, Short stature, Abdominal distention, Chronic diarrhea, Feeding diffi... OMIM:619472
Fibrochondrogenesis 2
Protuberant abdomen OMIM:614524
Huntington Disease-Like 1
Weight loss ORPHA:157941
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Hypoplasia of penis, Alopecia, Hypospadias, Short stature, Curly eyela... ORPHA:3107
Immunodeficiency 27A
Weight loss OMIM:209950
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Incontinentia Pigmenti
Ridged nail, Alopecia, Short stature, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Br... OMIM:308300
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Ring Chromosome 13 Syndrome
Alopecia, Hypospadias, Growth delay, Abnormal renal physiology, Micropenis, Urogenital sinus anomaly ORPHA:96176
Restrictive Dermopathy 1
Ureteral duplication, Sparse eyelashes, Hypospadias, Short nail, Absent eyelashes, Sparse eyebrow... OMIM:275210
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Campomelic Dysplasia
Hypospadias, Short nail, Feeding difficulties, Neonatal short-limb short stature, Disproportionat... OMIM:114290
Restrictive Dermopathy
Ureteral duplication, Hypospadias, Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine... ORPHA:1662
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Ane Syndrome
Alopecia, Short stature, Hypogonadotropic hypogonadism, Delayed puberty ORPHA:157954
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Hypogonadotropic hypogonadism, Feeding difficulties in infancy, Overweight, G... ORPHA:226307
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly, Micropenis,... ORPHA:51
Multiple Myeloma
Weight loss, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute kidney injury ORPHA:29073
Semilobar Holoprosencephaly
Short stature, Feeding difficulties, Growth delay, Depression, Gastroesophageal reflux, Constipat... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Feeding difficulties, Growth delay, Depression, Gastroesophageal reflux, Constipat... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Feeding difficulties, Growth delay, Depression, Gastroesophageal reflux, Constipat... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Feeding difficulties, Growth delay, Depression, Gastroesophageal reflux, Constipat... ORPHA:93924
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Papillary renal cell carcinoma, Premature... ORPHA:363618
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abdominal distention, Gastrointestinal inflammation, Hypoalbuminem... ORPHA:186
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Growth delay, Colitis ORPHA:309031
Dextrocardia
Abnormal renal morphology, Abnormality of the ureter ORPHA:1666
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Gallbladder Neuroendocrine Tumor
Anorexia, Abdominal distention, Weight loss, Episodic abdominal pain, Nausea ORPHA:100086
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Failure to thrive, Chronic diarrhea ORPHA:169154
Chronic Beryllium Disease
Weight loss ORPHA:133
Keutel Syndrome
Alopecia, Short stature ORPHA:85202
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Mosaic Trisomy 1
Polyhydramnios, Increased nuchal translucency, Renal cortical cysts, Renal cyst, Micropenis, Peni... ORPHA:1692
Bleeding Disorder, Platelet-Type, 21
Alopecia, Menorrhagia OMIM:617443
Solitary Fibrous Tumor
Urinary retention, Weight loss ORPHA:2126
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Dry skin, Neutropenia OMIM:617827
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Dry skin OMIM:619306
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Nephrotic syndrome, Constipation, Hydronephrosis, Cryptorchidism OMIM:601776
Mucolipidosis Type Ii
Dry hair, Short stature, Postnatal growth retardation, White hair, Weight loss, Fine hair, Protub... ORPHA:576
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Elevated circulating creatine kinase concentration, Alopecia totalis, ... OMIM:618775
Takayasu Arteritis
Weight loss ORPHA:3287
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Autoimmune Polyendocrinopathy Type 4
Tubulointerstitial nephritis, Alopecia, Hypergonadotropic hypogonadism ORPHA:227990
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Thin nail, Abnormal hair morphology, Growth delay, Small nail OMIM:242100
Atopic Keratoconjunctivitis
Loss of eyelashes, Dry skin ORPHA:163934
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Short stature, Hydronephrosis OMIM:610682
Autoimmune Polyendocrinopathy Type 2
Alopecia, Hypogonadism ORPHA:3143
Robinow Syndrome, Autosomal Dominant 1
Short stature, Rhizomelia, Cryptorchidism, Long eyelashes, Nail dysplasia, Micropenis, Hydronephr... OMIM:180700
Mogs-Cdg
Alopecia, Hydrocele testis, Chronic constipation, Long eyelashes, Fair hair, Hirsutism, Nasogastr... ORPHA:79330
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Nail dystrophy ORPHA:100976
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Micropenis, Oligohydramnios OMIM:257300
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Renal hypoplasia, Nail dysplasia, Dysphagia, Vesicoureteral reflux, Hydronephrosis ORPHA:2363
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Autoimmune Polyendocrinopathy Type 3
Tubulointerstitial nephritis, Alopecia, Hypergonadotropic hypogonadism ORPHA:227982
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Rhizomelia, Protuberant abdomen OMIM:151210
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair, Failure to thrive OMIM:605676
Idiopathic Hypereosinophilic Syndrome
Abdominal pain, Feeding difficulties in infancy, Abdominal distention, Chronic diarrhea, Colitis,... ORPHA:3260
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia OMIM:616576
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia, Abnormal fingernail morphology ORPHA:1647
Kaposi Sarcoma
Weight loss ORPHA:33276
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Sarcoidosis
Renal insufficiency, Alopecia, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephr... ORPHA:797
Lichen Planopilaris
Alopecia, Onycholysis, Abnormal fingernail morphology ORPHA:525
Schneckenbecken Dysplasia
Disproportionate short-limb short stature, Protuberant abdomen OMIM:269250
Fibrochondrogenesis 1
Hypoplastic toenails, Rhizomelia, Protuberant abdomen, Hypoplastic fingernail OMIM:228520
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Feeding difficulties, Growth delay, Hypoalbuminemia, Nail dystrophy, Failure to thrive,... ORPHA:79396
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Alopecia, Short stature, Abnormal hair morphology, Hyperlipidemia, Nail dystrophy, De... ORPHA:90154
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Leishmaniasis
Weight loss ORPHA:507
Joubert Syndrome 14
Renal cyst OMIM:614424
Alzahrani-Kuwahara Syndrome
Dry skin, Hypospadias, Self-mutilation OMIM:619268
Acrocephalopolydactylous Dysplasia
Ascites, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Redundant skin in infancy, Dry skin, Cutis laxa, Sparse hair, Vesicoureteral r... OMIM:150230
Dyggve-Melchior-Clausen Disease
Severe short stature, Rhizomelia, Disproportionate short-trunk short stature, Protuberant abdomen... ORPHA:239
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... ORPHA:69085
Genitopatellar Syndrome
Sparse scalp hair, Multicystic kidney dysplasia, Cryptorchidism, Feeding difficulties, Dysphagia,... OMIM:606170
Rothmund-Thomson Syndrome Type 2
Calcinosis, Small for gestational age, Alopecia totalis, Short stature, Cryptorchidism, Diarrhea,... ORPHA:221016
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Polyhydramnios ORPHA:3301
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Sparse scalp hair, Alopecia, Postnatal growth retardation, Hyperlipidemia, Growth del... OMIM:248370
Atelosteogenesis Type I
Multiple renal cysts, Polyhydramnios ORPHA:1190
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Complete Atrioventricular Septal Defect
Lethargy, Failure to thrive, Feeding difficulties ORPHA:1329
Achondrogenesis, Type Ii
Disproportionate short-trunk short stature, Disproportionate short-limb short stature, Protuberan... OMIM:200610
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow OMIM:261990
Omenn Syndrome
Alopecia, Diarrhea, Failure to thrive, Hypoproteinemia OMIM:603554
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Elevated circulatin... OMIM:256040
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Polycystic kidn... OMIM:200980
Letterer-Siwe Disease
Abdominal distention OMIM:246400
Felty Syndrome
Recurrent urinary tract infections, Weight loss ORPHA:47612
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Kaposiform Lymphangiomatosis
Pericardial effusion, Pancreatic cysts, Multiple renal cysts, Pleural effusion, Enlarged kidney ORPHA:464329
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Sparse h... OMIM:613451
Lethal Kniest-Like Dysplasia
Severe short-limb dwarfism, Protuberant abdomen, Mesomelic/rhizomelic limb shortening ORPHA:2347
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Hypertriglyceridemia, Short stature, Obesity, Abnormal circulating creatine kinase conc... ORPHA:98907
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Renal dysplasia, Curly hair, Short stature, Feeding difficulties, Hypoplastic nipples, Delayed pu... ORPHA:480880
Polymyositis
Weight loss, Abnormal renal tubule morphology ORPHA:732
Colonic Atresia
Abdominal distention ORPHA:1198
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Charge Syndrome
Renal agenesis, Hypogonadotropic hypogonadism, Postnatal growth retardation, Cryptorchidism, Dela... OMIM:214800
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Phelan-Mcdermid Syndrome
Palpebral edema, Abnormality of the kidney, Lymphedema, Polycystic kidney dysplasia, Vesicoureter... OMIM:606232
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Increased circulating thyroglobulin level, Polycystic kidney dysplasia, Renal cyst OMIM:610199
Trichinellosis
Lethargy, Apathy, Nausea, Dysphagia ORPHA:863
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Tetrasomy 12P
Cachexia ORPHA:884
Mowat-Wilson Syndrome
Urinary incontinence, Gastrointestinal dysmotility, Vomiting, Vesicoureteral reflux, Webbed penis... ORPHA:2152
Rheumatoid Arthritis
Weight loss OMIM:180300
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Zinc Deficiency, Transient Neonatal
Alopecia, Decreased serum zinc OMIM:608118
Medulloblastoma
Nausea and vomiting, Lethargy ORPHA:616
Lymphoid Interstitial Pneumonia
Failure to thrive, Enlarged kidney, Weight loss ORPHA:79128
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Polyhydramnios, Fetal ascites, Re... OMIM:261515
Incontinentia Pigmenti
Alopecia, Abnormal fingernail morphology, Short stature, Supernumerary nipple, Abnormal hair morp... ORPHA:464
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Alveolar Echinococcosis
Pancreatic cysts, Renal cyst, Pedal edema, Abnormal bladder morphology, Hepatic cysts ORPHA:284
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Perry Syndrome
Weight loss OMIM:168605
Oromandibular Dystonia
Weight loss ORPHA:93958
Silver-Russell Syndrome
Failure to thrive in infancy, Hypospadias, Cachexia, Obesity, Abnormality of the urinary system ORPHA:813
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic diarrhea, Failure to thrive in infancy, Patchy alopecia, Alopecia universalis OMIM:606367
Hutchinson-Gilford Progeria Syndrome
Growth delay, Alopecia OMIM:176670
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Hyperlipidemia, Breast ap... ORPHA:90153
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Behcet Syndrome
Patchy alopecia, Decreased level of D-mannose in urine OMIM:109650
Klatskin Tumor
Weight loss ORPHA:99978
Gaucher Disease, Type Ii
Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, Dysphagia, Failure to thrive OMIM:230900
Localized Scleroderma
Abnormal skin adnexa morphology, Abnormality of the kidney, Patchy alopecia, Gastroesophageal ref... ORPHA:90289
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Abnormal fingernail morphology ORPHA:659
Thyroid Ectopia
Growth delay, Abdominal distention, Constipation, Short stature ORPHA:95712
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Unilateral renal agenesis, Acute myelomonocytic leukemia, Dry skin, D-2-hydroxyglutaric aciduria,... ORPHA:99646
Paternal Uniparental Disomy Of Chromosome 6
Dehydration, Oligohydramnios ORPHA:96191
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal renal morphology, Short stature, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:363700
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Renal hypoplasia, Renal cyst OMIM:616300
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Cachexia ORPHA:300605
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Otopalatodigital Syndrome, Type Ii
Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Widow's peak, Hydroneph... OMIM:304120
Caroli Disease
Conjugated hyperbilirubinemia, Ascites, Abnormal circulating alpha-fetoprotein concentration, Pol... ORPHA:53035
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... ORPHA:2108
8P23.1 Microdeletion Syndrome
Hypospadias, Obesity, Weight loss ORPHA:251071
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Alopecia, Alopecia totalis, Hyperkalemia, Nail dystrophy, Failure to thrive, Abnorm... ORPHA:293978
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst OMIM:193300
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis OMIM:614594
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
Thymoma
Glomerulonephritis, Weight loss ORPHA:99867
Steinert Myotonic Dystrophy
Alopecia, Intestinal pseudo-obstruction, Hypergonadotropic hypogonadism, Oral-pharyngeal dysphagi... ORPHA:273
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Bowel incontinence, Short statur... ORPHA:261537
Lymphatic Malformation 7
Abdominal distention OMIM:617300
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Ménétrier Disease
Weight loss ORPHA:2494
Loeffler Endocarditis
Weight loss ORPHA:75566
Hydrolethalus Syndrome 1
Intrauterine growth retardation, Hypospadias, Hydronephrosis OMIM:236680
Stevens-Johnson Syndrome
Abnormality of the urethra, Renal insufficiency, Dysuria, Weight loss ORPHA:36426
Atelosteogenesis, Type I
Cryptorchidism, Rhizomelia, Disproportionate short-limb short stature, Protuberant abdomen OMIM:108720
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... ORPHA:805
Plague
Anorexia, Edema, Splenomegaly, Skin ulcer, Dry skin ORPHA:707
Gm1 Gangliosidosis
Failure to thrive, Weight loss ORPHA:354
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Alopecia totalis OMIM:300918
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Short nail, Supernumerary nipple, Cryptorchidism, Renal cyst, Duplication of renal p... OMIM:312870
Immunodeficiency 7
Diarrhea, Failure to thrive, Patchy alopecia OMIM:615387
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Bowel incontine... ORPHA:857
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Polyhydramnios, Hydrops fetalis, Polycystic kidney dysplasia OMIM:616546
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology ORPHA:3453
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Kasabach-Merritt Syndrome
Abdominal distention, Hypertrichosis, Abdominal pain ORPHA:2330
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Protuberant abdomen OMIM:616038
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Atelosteogenesis Type Ii
Rhizomelic arm shortening, Rhizomelia, Protuberant abdomen ORPHA:56304
Immunodeficiency, Common Variable, 10
Trachyonychia, Frequent Giardia lamblia infestation, Alopecia totalis OMIM:615577
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Hydranencephaly
Postnatal growth retardation, Intrauterine growth retardation, Lethargy ORPHA:2177
Hereditary Late-Onset Parkinson Disease
Spastic/hyperactive bladder, Weight loss ORPHA:411602
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, Renal dupli... ORPHA:261552
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short stature, Large for gestational age, Postnatal growth retardation, Cryptorchidism, Feeding d... ORPHA:96334
Achondrogenesis, Type Ia
Disproportionate short-trunk short stature, Protuberant abdomen OMIM:200600
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Pneumocystosis
Weight loss ORPHA:723
Thyrotoxic Periodic Paralysis
Weight loss, Urinary retention, Obesity, Decreased urinary potassium ORPHA:79102
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair OMIM:127550
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Cryptorchidism, Abnormality of the ureter, Elevated am... OMIM:249000
Malignant Atrophic Papulosis
Abnormality of the lower urinary tract, Weight loss ORPHA:679
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Pancreatic cysts, Macular edema, Renal cell carcinoma, Mult... ORPHA:892
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Glycine Encephalopathy
Lethargy, Poor suck, Hyperglycinemia ORPHA:407
Refractory Celiac Disease
Weight loss ORPHA:398063
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail OMIM:609638
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Obesity, Cachexia ORPHA:85293
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia, Ascites ORPHA:1556
Classical-Like Ehlers-Danlos Syndrome Type 2
Cryptorchidism, Alopecia, Hypertriglyceridemia ORPHA:536532
Greenberg Dysplasia
Severe short-limb dwarfism, Rhizomelia, Disproportionate short-limb short stature, Protuberant ab... OMIM:215140
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,... ORPHA:158687
Budd-Chiari Syndrome
Weight loss ORPHA:131
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Familial Colorectal Cancer Type X
Renal neoplasm, Weight loss ORPHA:440437
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Hermansky-Pudlak Syndrome
Renal insufficiency, Weight loss ORPHA:79430
Weill-Marchesani Syndrome 2
Proportionate short stature, Short stature, Protuberant abdomen OMIM:608328
Primary Myelofibrosis
Cachexia ORPHA:824
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Cranioectodermal Dysplasia 2
Renal insufficiency, Polyhydramnios, Hydrops fetalis, Renal cyst, Hyperbilirubinemia OMIM:613610
Q Fever
Hematuria, Weight loss ORPHA:781
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Crossed... ORPHA:2538
Cerebrocostomandibular Syndrome
Polyhydramnios, Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Polyhydramnios, Increased nuchal translucency, Nephroblastoma, Ascites ORPHA:1052
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Hypospadias, Sparse eyelashes, Supernumerary nipple, Mesomelic/rhizo... OMIM:601803
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Rett Syndrome
Cachexia OMIM:312750
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst OMIM:615636
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Blomstrand Lethal Chondrodysplasia
Neonatal short-limb short stature, Rhizomelia, Protuberant abdomen ORPHA:50945
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Mild short stature, Rhizomelia, Disproportionate short-limb short stature, Protuberant abdomen OMIM:618019
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Postinfectious Vasculitis
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Weight loss, Hematuria ORPHA:48435
Vascular Ehlers-Danlos Syndrome
Alopecia, Hypospadias, Short stature, Abnormality of hair texture, Abnormal eyelash morphology, C... ORPHA:286
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Hydrops fetalis, Polycystic kidney dysplasia OMIM:263520
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... OMIM:164210
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Redundant skin, Periorbi... ORPHA:904
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Caroli Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormality of the kidney, Polycystic kidney d... ORPHA:480520
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Hypospadias, Renal cyst OMIM:616975
Riddle Syndrome
Weight loss, Enuresis nocturna ORPHA:420741
Congenital Tracheal Stenosis
Abnormality of the ureter, Abnormality of the kidney ORPHA:141127
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Reactive Arthritis
Recurrent urinary tract infections, Weight loss ORPHA:29207
Poems Syndrome
Weight loss ORPHA:2905
Pulmonary Alveolar Microlithiasis
Hematuria, Calcium nephrolithiasis, Weight loss ORPHA:60025
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Polyhydramnios, Oligohydramnios OMIM:300373
Polycythemia Vera
Weight loss ORPHA:729
Tropical Pancreatitis
Weight loss ORPHA:103918
Lynch Syndrome
Weight loss ORPHA:144
Linear Nevus Sebaceus Syndrome
Growth delay, Alopecia ORPHA:2612
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Weight loss ORPHA:913
Familial Thrombocytosis
Weight loss ORPHA:71493
Distal Deletion 19P
Alopecia, Thick eyebrow ORPHA:96129
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Aicardi-Goutieres Syndrome 7
Nephrotic syndrome, Weight loss OMIM:615846
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Roberts Syndrome
Polyhydramnios, Long penis, Polycystic kidney dysplasia ORPHA:3103
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Primary Sclerosing Cholangitis
Renal insufficiency, Weight loss ORPHA:171
Kikuchi-Fujimoto Disease
Alopecia, Weight loss, Elevated circulating C-reactive protein concentration, Anorexia ORPHA:50918
Pyknoachondrogenesis
Abdominal distention ORPHA:3003
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Brucellosis
Small for gestational age, Glomerulonephritis, Weight loss, Intrarenal abscess, Failure to thrive ORPHA:1304
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Female hypogonadism, Alopecia totalis, Loss of eyelashes, Weight loss, Patchy alo... ORPHA:740
Pagod Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:991
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Behçet Disease
Glomerulopathy, Renal insufficiency, Weight loss ORPHA:117
C Syndrome
Multicystic kidney dysplasia, Polyhydramnios, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:1308
Leprosy
Absent eyebrow, Alopecia, Testicular mass, Loss of eyelashes, Sparse body hair ORPHA:548
Trichotillomania
Alopecia OMIM:613229
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Renal cyst ORPHA:495875
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Alopecia ORPHA:2396
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia OMIM:269200
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Malt Lymphoma
Weight loss ORPHA:52417
Distal Deletion 15Q
Abnormal localization of kidney, Micropenis, Multicystic kidney dysplasia, Hypospadias ORPHA:1596
Nijmegen Breakage Syndrome
Pollakisuria, Cachexia ORPHA:647
Sarcoidosis, Susceptibility To, 1
Hypercalciuria, Weight loss OMIM:181000
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Weight loss ORPHA:79078
Seckel Syndrome
Cachexia ORPHA:808
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Immunodeficiency 31C
Weight loss OMIM:614162
Camurati-Engelmann Disease
Slender build, Urinary retention, Cachexia ORPHA:1328
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia, Oligohydramnios ORPHA:3404
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Femoral-Facial Syndrome
Micropenis, Renal agenesis, Polycystic kidney dysplasia, Abnormal renal collecting system morphology OMIM:134780
Rat-Bite Fever
Weight loss ORPHA:31205
Townes-Brocks Syndrome 1
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... OMIM:107480
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Pineoblastoma
Lethargy ORPHA:251909
Ppoma
Weight loss ORPHA:97278
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia ORPHA:2052
Tsh-Secreting Pituitary Adenoma
Weight loss ORPHA:91347
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Somatostatinoma
Weight loss ORPHA:97283
Proteus Syndrome
Enlarged polycystic ovaries, Long penis, Renal cyst, Lymphedema ORPHA:744
Adams-Oliver Syndrome 1
Alopecia, Supernumerary nipple, Small nail OMIM:100300
Sympathetic Ophthalmia
Alopecia, Poliosis ORPHA:79098
Grfoma
Weight loss ORPHA:97261
Glucagonoma
Weight loss ORPHA:97280
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Increased body weight, Weight loss, Truncal obesity, Abdominal ... ORPHA:99889
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Roberts-Sc Phocomelia Syndrome
Hypospadias, Polyhydramnios, Long penis, Horseshoe kidney, Stillbirth, Polycystic kidney dysplasia OMIM:268300
Nocardiosis
Weight loss ORPHA:31204
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Renal cyst OMIM:113620
Pmm2-Cdg
Proteinuria, Lymphedema, Pericardial effusion, Reduced thyroxin-binding globulin, Nephrotic syndr... ORPHA:79318
Choreoacanthocytosis
Weight loss ORPHA:2388
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia ORPHA:2072
Stickler Syndrome
Slender build, Cachexia ORPHA:828
Norrie Disease
Failure to thrive, Cachexia ORPHA:649
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565

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 Aqp2

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 Aqp2.

No publications found that use IMPC mice or data for Aqp2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Aqp2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Aqp2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Aqp2tm404463(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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