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Gene: Nphp3 MGI:1921275

Gene Summary

Name:

nephronophthisis 3 (adolescent)

Synonyms:

D330020E01Rik, pcy, nephrocystin 3, 3632410F03Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased grip strength		Nphp3^em1(IMPC)J	HET		Early adult	4.69×10^-06
preweaning lethality, incomplete penetrance		Nphp3^em1(IMPC)J	HOM		Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Electroretinography 3

Fundus file

14 Images

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X-ray

XRay Images Forepaw

9 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Auditory Brain Stem Response

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

8 Images

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Electrocardiogram (ECG)

Waveform Image

15 Images

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Human diseases caused by Nphp3 mutations

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

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

Human diseases associated with Nphp3 (5 diseases)
Human diseases predicted to be associated with Nphp3 (1591 diseases)

The table below shows human diseases associated to Nphp3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic cysts, Splenomegaly, Stage 5 chronic kidney disease...	OMIM:208540
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Patent ductus arterios...	OMIM:267010
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156

The table below shows human diseases predicted to be associated to Nphp3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor	OMIM:614278
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hepatomegaly	OMIM:232700
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Ane...	OMIM:615285
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Nausea and vomiting, Hepatomegaly, Renal insufficiency, Hemiplegia/hemiparesis, Chorea, Thrombocy...	ORPHA:289916
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Vitamin B12-Responsive Methylmalonic Acidemia	Nausea and vomiting, Hepatomegaly, Renal insufficiency, Hyperammonemia, Lethargy, Anemia	ORPHA:28
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Feeding difficulties in infancy, Abdom...	ORPHA:2924
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease...	OMIM:162000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Nausea and vomiting, Hepatomegaly, Renal insufficiency, Anorexia, Abdominal pain, Splenomegaly, T...	ORPHA:79312
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Vitamin B12-Unresponsive Methylmalonic Acidemia	Nausea and vomiting, Hepatomegaly, Renal insufficiency, Macrocytic anemia, Ataxia, Paraparesis, T...	ORPHA:27
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Ataxia, Abnormal pyramidal sign, Feeding difficulties, Abnormality of extrapyramida...	OMIM:618224
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres...	OMIM:619491
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, ...	OMIM:606777
Meckel Syndrome 13	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:617562
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Abdominal distention, Renal cyst, Increased total bilirubin	OMIM:174050
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se...	OMIM:617056
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
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
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Dihydropyrimidinase Deficiency	Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Feed...	OMIM:222748
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Acute hepatitis, Clonus, Protein avoidance, Poor coordination, Abnormal pyramidal s...	OMIM:238970
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Abdominal pain, Chronic diarrhea, Malnutrit...	ORPHA:85445
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesi...	ORPHA:71277
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Elevated urinary 7-biopterin level, Hypertonia, Transient hyperphenylalaninemia, Hyperphe...	OMIM:264070
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ...	OMIM:619902
Thyrocerebrorenal Syndrome	Renal insufficiency, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia, Nephritis, Thro...	ORPHA:3327
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk...	ORPHA:101150
Genitopalatocardiac Syndrome	Hypospadias, Cleft upper lip, Micrognathia, Renal cyst, Cleft palate, Right aortic arch, Transpos...	OMIM:231060
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Abnormal dental enamel morphology...	ORPHA:1133
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enla...	OMIM:613885
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Anorexia, Distal renal tubular acidosis, Hepatosp...	OMIM:611590
Developmental And Epileptic Encephalopathy 92	Ataxia, Feeding difficulties, Myoclonus, Dystonia, Lethargy, Spasticity	OMIM:617829
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Delayed eruption of p...	ORPHA:839
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Lethargy, Hyperlysinemia	OMIM:238750
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatitis, Polycysti...	OMIM:145001
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Megaloblastic anemia, Methylmalonic...	OMIM:236270
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt...	OMIM:613845
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiati...	OMIM:263200
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Recurrent otitis...	OMIM:615993
Developmental And Epileptic Encephalopathy 40	Spastic tetraparesis, Feeding difficulties, Choreoathetosis, Myoclonus, Lethargy, Spasticity	OMIM:617065
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Hypercalcemia, Infantile, 1	Hypercalcemia, Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Vomiting, Lethargy, M...	OMIM:143880
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Micrognathia, Carious teeth, Paten...	OMIM:613680
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Short Chain Acyl-Coa Dehydrogenase Deficiency	Dystonia, Elevated circulating acylcarnitine concentration, Feeding difficulties, Hypertonia, Eth...	ORPHA:26792
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Severe Canavan Disease	Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Babinski sign, Feeding difficulti...	ORPHA:314911
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ...	OMIM:619868
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob...	ORPHA:90039
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Multicystic kidney dysplasia, Abnormal palate morphology, Abnormality of the denti...	ORPHA:3270
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Tremor, Thrombocytopenia, Schistocytosis...	OMIM:274150
Lethal Infantile Mitochondrial Myopathy	Lethargy, Fatal liver failure in infancy, Renal insufficiency	ORPHA:254857
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis	ORPHA:3033
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Thomas Syndrome	Cleft upper lip, Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia	ORPHA:3316
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney, Micrognathia	OMIM:618272
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulatin...	OMIM:235400
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid conce...	OMIM:614859
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Nephrolithiasis, Hypodontia	ORPHA:1816
Adiposis Dolorosa	Abdominal distention, Constipation, Depression	OMIM:103200
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Glycine Encephalopathy 1	Lethargy, Hyperglycinuria, Hyperglycinemia, Myoclonus	OMIM:605899
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Proteinuria, Micrognathia, Hematuria, Tubulointerstitial nephritis	OMIM:616901
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated circulating branched ch...	ORPHA:2394
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis	OMIM:278300
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Purple urine, Abdominal pain, Abnormal erythrocyte enzyme level, Abnormal circulati...	ORPHA:100924
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Renal insufficiency, Hypos...	ORPHA:261494
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent...	ORPHA:1652
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Renal cyst, Abnormality of the dentition	OMIM:615982
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Fee...	OMIM:613135
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Lesch-Nyhan Syndrome	Renal insufficiency, Hemiplegia/hemiparesis, Gout, Hematuria, Hyperuricemia, Spasticity, Anemia	ORPHA:510
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Urinary urgency, Dystonia	OMIM:605909
Congenital Pancreatic Cyst	Anorexia, Abdominal pain, Abdominal distention, Vomiting, Pancreatitis	ORPHA:313906
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Dystonia, Ataxia, Head titubation, Dysmetria, Feeding difficulties, Aminoaciduria, Myoclonus, Tru...	OMIM:250620
Early Myoclonic Encephalopathy	Feeding difficulties, Myoclonus, Dysphagia, Lethargy, Poor suck	ORPHA:1935
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Poor appetite, Fee...	OMIM:606054
Trehalase Deficiency	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:103909
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp...	ORPHA:251004
Central Diabetes Insipidus	Hyponatremia, Nausea and vomiting, Anorexia, Diarrhea, Depression, Lethargy, Nocturia	ORPHA:178029
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Elevated circulating creatine kinase concentration, Retinal arteriolar tortu...	OMIM:611773
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi...	OMIM:619386
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Kleefstra Syndrome 1	Mandibular prognathia, U-Shaped upper lip vermilion, Natal tooth, Hypospadias, Persistence of pri...	OMIM:610253
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Thyrocerebroretinal Syndrome	Ataxia, Slurred speech, Myoclonus, Nephritis, Thrombocytopenia	OMIM:274240
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Vomiting, Ataxia	ORPHA:622
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Vomiting, Increased bl...	OMIM:617872
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dysph...	OMIM:233910
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Uraciluria, Hypertonia, Tetraplegia	OMIM:274270
Sandhoff Disease, Adult Form	Dystonia, Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia...	ORPHA:309169
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries	ORPHA:90301
Meckel Syndrome, Type 9	Occipital encephalocele, Multicystic kidney dysplasia	OMIM:614209
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Ataxia, Feeding difficulties, Decreased liver function, D...	OMIM:246900
Holocarboxylase Synthetase Deficiency	Nausea and vomiting, Ataxia, Eczema, Anorexia, Hyperammonemia, Keratoconjunctivitis, Organic acid...	ORPHA:79242
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Advanced er...	ORPHA:2348
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Fe...	ORPHA:97362
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Micrognathia, Abnormality of the dentition, Thick lower...	ORPHA:85321
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Abd...	OMIM:256300
Citrullinemia Type I	Torticollis, Ataxia, Slurred speech, Hyperammonemia, Feeding difficulties, Ankle clonus, Gastroes...	ORPHA:247525
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Advanced eruption of teeth, Long penis, High palate	OMIM:262190
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Basal Ganglia Calcification, Idiopathic, 1	Urinary incontinence, Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, R...	OMIM:213600
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bow...	ORPHA:35710
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Micrognathia, Cleft palate, Tooth agenesis, Abnormal aortic morphology,...	ORPHA:1166
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Chorea, Ataxia	OMIM:618683
Cholesteryl Ester Storage Disease	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly	ORPHA:75234
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Dystonia, Upper motor neur...	ORPHA:401901
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Skin rash, Abdominal pain, Tremor, Splenomegal...	ORPHA:99745
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Depression, Myoclonus	OMIM:159900
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen...	ORPHA:363444
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Anorexia, Elevated circulating C-reactive protein concentration, Hashimoto thy...	ORPHA:49041
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria, Poor suck	OMIM:615026
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon...	OMIM:251000
Joubert Syndrome 15	Micropenis, Exencephaly, Nephronophthisis	OMIM:614464
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Increased mean platelet volume, Feeding difficulties in infancy, A...	OMIM:300048
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tub...	ORPHA:79259
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Renal hypoplasia/aplasia, P...	ORPHA:2863
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Acute hyperammonemia, Ataxia, Poor appetite, Reye syndrome-like episodes, Hyperglut...	ORPHA:927
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Persistence of primary teeth, Vasculitis, Hemat...	ORPHA:375
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Methylmalonic Acidemia With Homocystinuria	Lethargy, Skin rash, Feeding difficulties	ORPHA:26
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Nephronophthisis	Renal insufficiency, Anemia	ORPHA:655
Maple Syrup Urine Disease	Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in...	OMIM:248600
Trisomy X	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Tremor, Depression	ORPHA:3375
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica...	OMIM:204690
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d...	OMIM:619398
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:614561
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney...	ORPHA:469
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:255120
Atypical Pantothenate Kinase-Associated Neurodegeneration	Limb dystonia, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Oromandibular dys...	ORPHA:216873
Peroxisome Biogenesis Disorder 6A (Zellweger)	Feeding difficulties in infancy, Hepatomegaly, Decreased liver function, Renal cyst	OMIM:614870
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Kabuki Syndrome 2	Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Horseshoe kidney, Coarctation of a...	OMIM:300867
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
46,Xy Sex Reversal 4	Micrognathia, Elevated circulating creatinine concentration, Cleft palate, Hydronephrosis, High p...	OMIM:154230
Classic Galactosemia	Speech apraxia, Hepatomegaly, Incoordination, Ataxia, Postural tremor, Abnormal erythrocyte enzym...	ORPHA:79239
Glycogen Storage Disease Iv	Hepatosplenomegaly, Tubulointerstitial fibrosis	OMIM:232500
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Micrognathia, Abnormal renal morphology, Dental malocclus...	OMIM:610883
Paroxysmal Nocturnal Hemoglobinuria	Odynophagia, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Lethargy,...	ORPHA:447
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d...	OMIM:620045
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Depression, Neutropenia, Anemia	OMIM:602079
Malaria	Nausea and vomiting, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubi...	ORPHA:673
Spinocerebellar Ataxia 48	Dystonia, Ataxia, Urinary incontinence, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, D...	OMIM:618093
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Feeding difficulties in infancy, T...	OMIM:251110
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Elevated circulating cr...	OMIM:608836
Pediatric Systemic Lupus Erythematosus	Myositis, Leukopenia, Vomiting, Nephritis, Abdominal pain, Nephrotic syndrome, Microangiopathic h...	ORPHA:93552
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th...	OMIM:152700
Say Syndrome	Micrognathia, Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia	OMIM:181180
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Dystonia, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubati...	OMIM:607483
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclero...	OMIM:232200
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Hemiparesis, Lethargy, Herpes simplex encephalitis	OMIM:617900
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Feeding difficulties in infancy, Elevated urinary 3-methylcroton...	OMIM:210200
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Scrub Typhus	Nausea and vomiting, Anterior uveitis, Renal insufficiency, Skin rash, Abdominal pain, Tremor, Sp...	ORPHA:83317
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Ataxia, Maculopapular exanthema, Spo...	ORPHA:822
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Nasogastric tube feeding in infancy, Chorea, Feeding difficulties, Hemiballismus, Frequen...	ORPHA:494526
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Anorexia	ORPHA:79283
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Feeding difficulties, Renal tubu...	OMIM:614922
N-Acetylglutamate Synthase Deficiency	Lethargy, Hyperglutamatemia, Vomiting, Hyperammonemia	OMIM:237310
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec...	ORPHA:94059
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Ataxia, Protein avoidance, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, ...	OMIM:237300
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Neuronal Intestinal Pseudoobstruction	Natal tooth, Patent ductus arteriosus	ORPHA:99811
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental g...	OMIM:232220
Tyrosinemia, Type I	Acute hepatic failure, Hypertyrosinemia, Gastrointestinal hemorrhage, Hepatomegaly, Renal insuffi...	OMIM:276700
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Lead Poisoning	Decreased HDL cholesterol concentration, Skin rash, Anorexia, Abdominal pain, Abdominal distentio...	ORPHA:330015
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Joubert Syndrome 16	Encephalocele, Renal cyst, Nephronophthisis	OMIM:614465
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo...	OMIM:231680
Coach Syndrome 3	Renal insufficiency, Ataxia, Oculomotor apraxia, Stage 5 chronic kidney disease, Renal interstiti...	OMIM:619113
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Feeding difficulties, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Open bite, Splenomegaly, Dental m...	ORPHA:61
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Nephrotic...	OMIM:617303
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Patent ductus arteriosus, Thick lower lip vermilion, Widely spaced tee...	OMIM:619797
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Chilblains, Rigidity, Splenomegaly, Tremor, Feeding difficulties,...	OMIM:615010
Mulibrey Nanism	Hepatomegaly, Dental crowding, Nephroblastoma, Cardiomegaly, Absent frontal sinuses, Hypoplastic ...	OMIM:253250
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Urinary incontinence, Clonus, Tremor, Spastic paraplegia, Babinski sign, U...	OMIM:600363
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Developmental And Epileptic Encephalopathy 41	Babinski sign, Feeding difficulties, Nephrocalcinosis, Tetraparesis, Lethargy, Spasticity	OMIM:617105
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Hypospadias, Microgna...	OMIM:619148
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg...	OMIM:619365
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Methylmalonic ac...	OMIM:277410
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Ataxia, Vomiting, Myoclonus, Lethargy, Spasticity	OMIM:618225
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis, Vascular dilatation	OMIM:617219
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Ataxia, Elevated cir...	ORPHA:42
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Cerebral palsy, Seborrheic dermatitis, Hyperglycinuria, Hyperamm...	OMIM:210210
Cystathioninuria	Cystathioninemia, Cystathioninuria, Tremor, Nephrolithiasis	ORPHA:212
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Holocarboxylase Synthetase Deficiency	Skin rash, Feeding difficulties in infancy, Elevated urinary 3-methylcrotonylglycine level, Hyper...	OMIM:253270
Nephronophthisis 18	Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointe...	OMIM:615862
Acrocephalopolydactyly	Abnormal renal morphology, Protuberant abdomen, Hepatosplenomegaly	ORPHA:221054
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy, Paralysis	OMIM:613710
Immunodeficiency 83, Susceptibility To Viral Infections	Hemiparesis, Lethargy, Herpes simplex encephalitis	OMIM:613002
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion, Renal cyst, Conjunctivitis	OMIM:615560
Enamel-Renal Syndrome	Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam...	ORPHA:1031
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Dental malocclusion, High palate, Narrow mouth	ORPHA:2115
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Spastic tetrapares...	OMIM:605711
Isolated Atp Synthase Deficiency	Hepatomegaly, Ataxia, Spastic paraplegia, Renal hypoplasia, Hyperammonemia, Tetraplegia, 3-Methyl...	ORPHA:254913
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Abdominal dis...	OMIM:619423
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Fe...	ORPHA:2169
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea	ORPHA:103907
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Ataxia, Abdominal pain, Abdominal distention, Gastrointestinal dys...	OMIM:613662
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Isovaleric Acidemia	Pancytopenia, Hyperglycinuria, Leukopenia, Vomiting, Lethargy, Thrombocytopenia	OMIM:243500
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased se...	OMIM:602390
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, High palate, H...	ORPHA:3079
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Diarrhea, Reticulocy...	OMIM:275350
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Myh9-Related Disease	Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc...	ORPHA:182050
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Patent ductus arteriosus, Renal h...	OMIM:616300
Saccharopinuria	Citrullinuria, Tremor, Hypercystinemia, Hyperammonemia, Cystinuria, Spastic diplegia, Gait ataxia...	ORPHA:3124
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, V...	OMIM:600649
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Glycosuria	OMIM:606824
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Proteinuria, Elevated circulating C-reactive protein concentratio...	OMIM:614034
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis,...	OMIM:277900
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare...	OMIM:615924
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Feeding d...	OMIM:614857
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Recurrent urinary tract infections, Hypospadias, Exaggerated cupid's bo...	OMIM:619293
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Wolman Disease	Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Abdominal distention, Splenomegaly, Ma...	ORPHA:75233
Citrullinemia, Classic	Hepatomegaly, Ataxia, Protein avoidance, Hyperglutaminemia, Hyperammonemia, Episodic ammonia into...	OMIM:215700
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr...	OMIM:616307
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Abnormality of the kidney, Abnormality of the dentition, Thick lower lip vermilion, ...	ORPHA:261652
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Spina Bifida-Hypospadias Syndrome	Hypospadias, Spina bifida, Spinal dysraphism	ORPHA:3176
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Raine Syndrome	Mandibular prognathia, Natal tooth, Hydroureter, Micrognathia, Protruding tongue, Narrow mouth, G...	OMIM:259775
Dystonia 12	Torticollis, Dystonia, Parkinsonism, Tremor, Depression, Bradykinesia, Dysphagia	OMIM:128235
Rabson-Mendenhall Syndrome	Mandibular prognathia, Enlarged ovaries, Dental crowding, Abnormality of the dentition, Long peni...	ORPHA:769
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia, Dysphagia	OMIM:615945
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Proteinuria, Abnormality of the kidney, Abdominal distention, Hyperlipidemia	ORPHA:369
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Wide mouth, Renal...	OMIM:243910
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation	ORPHA:168829
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Enlarged kidney, Truncus arteriosus, Cystic renal dysplasia, Hepatic cysts	OMIM:615415
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Ataxia, Abdominal pain, Elevated circulating uracil concentration, Protein avoidance, Hyperglutam...	OMIM:311250
Cyclic Vomiting Syndrome	Ataxia, Anorexia, Abdominal pain, Gastrointestinal dysmotility, Vomiting, Lethargy, Nausea	OMIM:500007
Central Neurocytoma	Nausea and vomiting, Ataxia, Babinski sign, Depression, Lethargy	ORPHA:73256
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Hemiplegia/hemiparesis, Renal tubular acidosis, Transient hyperlipidemia, Lethargy,...	ORPHA:156
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Hirschsprung Disease, Susceptibility To, 1	Abdominal distention, Constipation, Vomiting, Enterocolitis	OMIM:142623
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc...	OMIM:612126
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Hyperala...	OMIM:312170
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Glutaric Acidemia Type 3	Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta...	ORPHA:35706
Acute Intermittent Porphyria	Hyponatremia, Nausea and vomiting, Renal insufficiency, Dark urine, Urinary incontinence, Dysuria...	ORPHA:79276
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Diaphanospondylodysostosis	Nephrogenic rest, Micrognathia, Nephroblastomatosis, Horseshoe kidney, Cleft palate, Cystic renal...	OMIM:608022
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Nephropathy, Abnormal dental enamel morphology, Hypocalcemia	ORPHA:2238
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Mcdonough Syndrome	Mandibular prognathia, Micrognathia, Open bite, Dental malocclusion, Short philtrum, Abnormal pal...	ORPHA:2471
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Incoordination, Skin rash, Megaloblastic anem...	OMIM:277380
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Dental malocclusion, Widely spaced teeth	OMIM:616108
Gapo Syndrome	Prominent scalp veins, Hepatomegaly, Micrognathia, Retinal arteriolar tortuosity, High, narrow pa...	OMIM:230740
Joubert Syndrome 18	Cleft palate, Renal cyst, Horseshoe kidney, Lobulated tongue, Retrognathia	OMIM:614815
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase concentration, Hypera...	OMIM:618120
Biotinidase Deficiency	Hepatomegaly, Ataxia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding diffic...	OMIM:253260
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Pyelonephritis, Varicose veins, Nephritis, Renal dysplasia	OMIM:314300
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Transposition of the great arteries, Persistent left superior vena cava, Hydron...	OMIM:314390
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, High palate, Dental malocclusion	OMIM:618292
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Pallister-Hall Syndrome	Renal dysplasia, Natal tooth, Hydroureter, Distal urethral duplication, Ectopic kidney, Cleft upp...	OMIM:146510
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Dystonia, Ataxia, Babinski sign, Vomiting, Dysphagia, Lethargy, Episodic vomiting	OMIM:618226
Dengue Fever	Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Abdominal pain, Diarrh...	ORPHA:99828
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Micrognathia, Microphallus, Hype...	OMIM:612651
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Skin rash, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic acid...	ORPHA:79284
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Lethargy, Sideroblastic anemia, Dysphagia	OMIM:613561
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Feeding difficulties in infancy, Diarrhea, Elevated circulating creatinine concen...	OMIM:223900
Rubinstein-Taybi Syndrome 2	Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas...	OMIM:613684
Diarrhea 12, With Microvillus Atrophy	Abdominal distention, Dependency on parenteral nutrition, Bronchiectasis, Secretory diarrhea, Vom...	OMIM:619445
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:618348
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Bradykinesia, Ankle clonus,...	ORPHA:521406
Plasminogen Deficiency, Type I	Decreased level of plasminogen, Nephrolithiasis, Gingivitis, Gingival overgrowth, Periodontitis, ...	OMIM:217090
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Dystonia, ...	ORPHA:314632
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Gaba-Transaminase Deficiency	Lethargy, Feeding difficulties	OMIM:613163
Pontocerebellar Hypoplasia, Type 6	Appendicular spasticity, Lower limb spasticity, Feeding difficulties, Upper limb spasticity, Gast...	OMIM:611523
Laron Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Micrognathia, Osteoarthritis, Tooth agenesis, Mic...	ORPHA:633
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ...	ORPHA:470
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Dep...	OMIM:616795
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Speech apraxia, Hepatomegaly, Clonus, Protein avoidance, Oroticaciduria, Poor coordination, Abnor...	ORPHA:415
Femoral-Facial Syndrome	Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:1988
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Sulfocysteinuria, Elevated circulating creatine kinase concentration, ...	OMIM:272300
Sotos Syndrome	Mandibular prognathia, Abnormality of the kidney, High, narrow palate, Patent ductus arteriosus, ...	OMIM:117550
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Dental malocclusion, Atopic dermatitis, Widely-spaced maxillary central...	OMIM:619719
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Hypermanganesemia With Dystonia 1	Hepatomegaly, Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fin...	OMIM:613280
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Increased circulati...	ORPHA:766
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Feeding difficulties in infancy, Di...	OMIM:608643
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly...	ORPHA:247585
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Tubular luminal dilatation, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki...	OMIM:604326
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion	OMIM:619692
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Opitz Gbbb Syndrome	Natal tooth, Enlarged ovaries, Hypospadias, Micrognathia, Cleft lip, Patent ductus arteriosus, Cl...	ORPHA:2745
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp...	OMIM:615751
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Joubert Syndrome 20	Renal cyst	OMIM:614970
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly	OMIM:608776
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune ...	OMIM:603909
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vascular dilatation	OMIM:602200
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Renal agenesis, Renal hypoplasia, Renal cyst, Cleft pal...	OMIM:615583
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyce...	ORPHA:280365
Branchiootorenal Syndrome 1	Branchial cyst, Renal malrotation, Branchial fistula, Unilateral renal agenesis, Renal steatosis,...	OMIM:113650
Thiamine-Responsive Megaloblastic Anemia Syndrome	Anorexia, Megaloblastic anemia, Diarrhea, Lethargy, Thrombocytopenia	ORPHA:49827
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up...	OMIM:225500
Diaphanospondylodysostosis	Multiple renal cysts, Cleft palate	ORPHA:66637
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Abdominal distention, Diarrhea, Thrombocytopenia, Elevated circulating creatinine c...	OMIM:608104
Rapid-Onset Dystonia-Parkinsonism	Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Depression, Bradykinesia, Gait ataxia, ...	ORPHA:71517
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Mitochondrial Complex I Deficiency, Nuclear Type 6	Ataxia, Abnormal pyramidal sign, Vomiting, Left ventricular hypertrophy, Lethargy	OMIM:618228
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Cockayne Syndrome Type 1	Mandibular prognathia, Hepatomegaly, Renal insufficiency, Proteinuria, Delayed eruption of primar...	ORPHA:90321
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Depression, Bradykinesia, Constipation, Parkinsonism with favorable res...	OMIM:616710
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Cleft palate, High palate, Ever...	OMIM:619736
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Feeding difficulties in infancy, Tremor, Abnormal pyramidal sign, Choreoa...	ORPHA:765
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin...	OMIM:201475
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Abnormal pyramidal sign, Neutropenia, Renal cyst, Feeding difficulties, Neph...	ORPHA:445038
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, High palate, Dental malocclusion	OMIM:608931
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Dental crowding, Micrognat...	OMIM:300373
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Renal hypoplasia, Narrow ...	OMIM:618975
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Elevated ci...	ORPHA:26791
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Bowel incontinence, Abdominal distention, Chorea, Babinski sign, Depression...	ORPHA:309271
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:212140
Visceral Myopathy 1	Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal...	OMIM:155310
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic cysts, Splenomegaly, Stage 5 chronic kidney disease...	OMIM:208540
Intermediate Osteopetrosis	Osteomyelitis, Abnormal dental morphology, Abnormality of the dentition, Dental malocclusion, Hep...	ORPHA:210110
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Galactokinase Deficiency	Hepatomegaly, Hepatosplenomegaly, Increased level of galactitol in plasma, Increased level of gal...	ORPHA:79237
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Thrombocytosis, Anorexia, Spastic hemiparesi...	ORPHA:20
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Dental malocclusion, Abnormality of the dentition	ORPHA:1858
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor	OMIM:610297
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Apathy, Dystonia, Parkinsoni...	ORPHA:240085
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t...	ORPHA:192
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Feeding difficulties in infancy, Splenom...	OMIM:257200
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concentration, Tremor, Diarrhea, Renal...	ORPHA:263455
Axial Osteomalacia	Elevated circulating creatine kinase concentration, Renal cyst	OMIM:109130
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Huntington Disease-Like 2	Rigidity, Chorea, Depression, Bradykinesia, Apathy, Dystonia, Inertia, Action tremor	OMIM:606438
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Diarrhea, Le...	OMIM:618963
Mitochondrial Neurogastrointestinal Encephalomyopathy	Small intestinal dysmotility, Poor appetite, Abdominal pain, Abdominal distention, Gastrointestin...	ORPHA:298
Glutathionuria	Urinary incontinence, Eczema, Tremor, Dysdiadochokinesis, Constipation, Glutathionuria, Action tr...	OMIM:231950
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation	ORPHA:160148
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hepatomegaly, Median cleft lip, Hamartoma of tongue, Splenomegaly, Patent ductus art...	OMIM:269860
Progressive Supranuclear Palsy-Corticobasal Syndrome	Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dy...	ORPHA:240103
Joubert Syndrome 39	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:619562
Liver Failure, Infantile, Transient	Acute hepatic failure, 3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Feedi...	OMIM:613070
Argininosuccinic Aciduria	Hepatomegaly, Ataxia, Feeding difficulties in infancy, Protein avoidance, Hyperglutaminemia, Hype...	OMIM:207900
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Tremor, Nasogastric tube feeding in infancy, ...	ORPHA:90117
Metachromatic Leukodystrophy, Late Infantile Form	Urinary incontinence, Feeding difficulties in infancy, Abdominal distention, Babinski sign, Gait ...	ORPHA:309256
Bent Bone Dysplasia Syndrome 1	Natal tooth, Micrognathia, Gingival overgrowth, Hepatosplenomegaly, Malar flattening	OMIM:614592
Folinic Acid-Responsive Seizures	Ataxia, Spastic tetraparesis, Abdominal distention, Chorea, Hypertonia, Dystonia	ORPHA:79097
Microvillus Inclusion Disease	Nephrocalcinosis, Abdominal distention, Diarrhea, Abnormal renal physiology	ORPHA:2290
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Poor appetite, Abdominal d...	OMIM:227810
Craniosynostosis 3	Dental malocclusion	OMIM:615314
Familial Hypoaldosteronism	Hyponatremia, Nausea and vomiting, Renal salt wasting, Decreased urinary potassium, Diarrhea, Hyp...	ORPHA:427
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Anemi...	OMIM:246450
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ...	OMIM:617865
Castleman Disease	Nausea and vomiting, Intestinal obstruction, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:160
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Proteinuria, Minimal change glomerulonephritis, Abdominal distention, Hyperlipidemia...	ORPHA:1830
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab...	ORPHA:103910
Anterior Cutaneous Nerve Entrapment Syndrome	Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Leukocytosis,...	ORPHA:51890
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Increased level of L-fucose in urine, Increased level ...	OMIM:215600
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
H Syndrome	Hypertriglyceridemia, Psoriasiform dermatitis, Abnormality of the kidney, Cleft upper lip, Gingiv...	ORPHA:168569
Dopamine Beta-Hydroxylase Deficiency	Diarrhea, Elevated urinary dopamine level, Elevated circulating creatinine concentration, Anemia,...	ORPHA:230
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Ataxia, Reticulocytosi...	ORPHA:713
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Hereditary Central Diabetes Insipidus	Lethargy, Diarrhea, Vomiting	ORPHA:30925
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ...	OMIM:616367
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig...	OMIM:269300
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Abdominal distention, Hypercalciuria, Gene...	ORPHA:2088
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Feeding difficulties, Br...	OMIM:261640
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina...	ORPHA:319218
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Hyperphenylalaninemia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia	OMIM:261630
Metachromatic Leukodystrophy, Juvenile Form	Urinary incontinence, Abdominal distention, Babinski sign, Clumsiness, Progressive gait ataxia, D...	ORPHA:309263
Rhabdoid Tumor	Nausea and vomiting, Renal neoplasm, Cerebral palsy, Hypercalcemia, Poor appetite, Abdominal pain...	ORPHA:69077
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Hyperglutamatemia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Dy...	OMIM:620358
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Nasogastric tube feeding in infancy, Gast...	ORPHA:391417
Trisomy 17P	Hypoplasia of penis, Urethral valve, Hydrocephalus, Urethral stenosis, Polycystic kidney dysplasi...	ORPHA:261290
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Multiple Pterygium-Malignant Hyperthermia Syndrome	Exaggerated cupid's bow, Narrow mouth, Abnormal mandible morphology, Cleft palate, Downturned cor...	ORPHA:2215
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor...	ORPHA:98762
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion	OMIM:615541
Febrile Infection-Related Epilepsy Syndrome	Lethargy, Sinusitis	ORPHA:163703
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Depression, Abnormality of extrapyramidal motor funct...	OMIM:615362
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de...	OMIM:616331
Necrotizing Enterocolitis	Hyponatremia, Abdominal distention, Diarrhea, Peritonitis, Leukocytosis, Bloody diarrhea, Vomitin...	ORPHA:391673
Alstrom Syndrome	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hepatomegaly,...	OMIM:203800
Coach Syndrome 1	Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Stag...	OMIM:216360
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Anorexia, Thro...	OMIM:557000
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Feeding difficulties, Decreased circulating free fatty acid level, Lethargy, Increa...	ORPHA:276556
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Micrognathia, Advanced eruption of teeth, Multicystic kidney dysplasia, Hypo...	ORPHA:818
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned...	ORPHA:1327
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Ataxia, Vomiting, Hyperglycinemia, Myoclonus, Abnormality of extrapyramidal motor f...	OMIM:614299
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Urethral stricture, Recurrent skin infections, Abdominal distention, Urinary...	ORPHA:79403
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Oligosacchariduria, Macro...	OMIM:616354
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Aortic root aneurysm, Long ...	OMIM:145420
Distal Triplication 15Q	Abnormality of the kidney, Hydrocephalus, Dilatation of the renal pelvis, Horseshoe kidney, Polyc...	ORPHA:314588
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Athyreosis	Abdominal distention, Constipation, Feeding difficulties	ORPHA:95713
Cholera	Hyponatremia, Abnormality of renal excretion, Achlorhydria, Abdominal pain, Diarrhea, Abnormal bl...	ORPHA:173
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, 2-ethylhydracylic aciduria	OMIM:610006
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Ren...	OMIM:236500
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Denta...	OMIM:616737
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia	OMIM:614381
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Generalized dystonia, Ataxia, Skin rash, Diarrhea, Chorea, Spastic tetraplegia, Gai...	OMIM:618321
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Ataxia, Spastic tetraparesis, Elevated circulating acylcarnitine concentration, Babinski sign, An...	OMIM:615838
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Ketonu...	ORPHA:247598
Meckel Syndrome, Type 1	Smooth philtrum, Hypoplasia of the bladder, Thin upper lip vermilion, Natal tooth, Renal agenesis...	OMIM:249000
Volvulus Of Midgut	Abdominal distention, Constipation, Neonatal intestinal obstruction	OMIM:193250
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Lethargy	OMIM:619064
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Ataxia, Eczema, Abdominal pain, Abdominal distention, Diarrhea, Thyroiditis, D...	OMIM:212750
Urocanic Aciduria	Ataxia, Urocanic aciduria, Abnormal circulating histidine concentration, Gait ataxia, Truncal ata...	ORPHA:210128
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Micrognathia, Patent ductus arteriosus, Dental malocclusion, High pala...	OMIM:606232
Susac Syndrome	Nausea and vomiting, Gait ataxia, Apathy, Lethargy, Upper motor neuron dysfunction	ORPHA:838
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Letterer-Siwe Disease	Seborrheic dermatitis, Abdominal distention, Thrombocytopenia, Hepatosplenomegaly, Neutropenia, S...	OMIM:246400
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Hypocal...	ORPHA:2237
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Immunodeficiency 49	Natal tooth, Psoriasiform dermatitis, Micrognathia, Pulmonary artery stenosis, Short philtrum	OMIM:617237
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Spondyloenchondrodysplasia	Delayed eruption of teeth, Proteinuria, Pneumonia, Skin rash, Vasculitis, Chronic kidney disease,...	ORPHA:1855
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal cerebral vascular morphology, Seborrheic dermatitis, Ovarian serous cystadenoma, Nephrob...	ORPHA:276280
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Clef...	ORPHA:107
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermil...	OMIM:618342
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hamartoma of tongue, Cleft upper lip, Cleft palate, Polycystic kidney dysplasia, Micropenis, Bifi...	OMIM:613091
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Gastroparesis, Urinary incontinence, Bowel incontinence, Parkinsonism, Tremor, Rigidity...	OMIM:618877
Orthostatic Hypotension 1	Hypomagnesemia, High palate, Nocturia, Increased blood urea nitrogen	OMIM:223360
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Sepsis In Premature Infants	Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal distention, Gastro...	ORPHA:90051
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607688
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Prominent superficial veins, Dental malocclusion, High palate, Hypodon...	OMIM:612350
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp...	OMIM:618761
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel morphology, Ope...	ORPHA:10
Primary Effusion Lymphoma	Abdominal distention, Abdominal pain	ORPHA:48686
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Noonan Syndrome 4	Ureteral duplication, Dental malocclusion, Wide mouth, Thick vermilion border, Hydronephrosis	OMIM:610733
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Renal cyst	OMIM:611561
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Feeding difficulties, Decreased circulating free fatty acid level, Lethargy, Increa...	ORPHA:276575
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Diastema, Malar flattening, Dental malocclusion, Micrognathia	ORPHA:436245
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Recurrent sinusitis, Recurrent otitis media, Juvenile rheumatoid...	OMIM:607944
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Hyperlipidemia, Ketonuria, Glycosuria	ORPHA:2089
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Meacham Syndrome	Patent ductus arteriosus, Partial anomalous pulmonary venous return, Horseshoe kidney, Coarctatio...	OMIM:608978
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia	OMIM:263210
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentratio...	OMIM:612953
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ...	ORPHA:251282
Specc1L-Related Hypertelorism Syndrome	Ectopic kidney, Patent ductus arteriosus, Orofacial cleft, Thin vermilion border, Everted lower l...	ORPHA:1519
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic...	OMIM:617641
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Renal steatosis, Inc...	ORPHA:412
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP c...	ORPHA:85443
Neurodegeneration With Brain Iron Accumulation 3	Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spastici...	OMIM:606159
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Poor appetite, Tremor, Splenomegaly, Diarrhea, Decreased serum zinc, Lethargy	OMIM:201100
Van Maldergem Syndrome 1	Irregular dentition, Tented upper lip vermilion, Hypospadias, Micrognathia, Hypoplasia of the max...	OMIM:601390
Martin-Probst Syndrome	Renal insufficiency, Proteinuria, Micrognathia, Thick lower lip vermilion, Dental malocclusion, W...	OMIM:300519
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Increa...	OMIM:614307
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Feeding diffi...	ORPHA:99657
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Smith-Magenis Syndrome	Hypercholesterolemia, Abnormality of the urinary system, Hypertriglyceridemia, Abnormal renal mor...	OMIM:182290
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Helsmoortel-Van Der Aa Syndrome	Smooth philtrum, Thin upper lip vermilion, Recurrent urinary tract infections, Carious teeth, Hig...	OMIM:615873
Hemihyperplasia, Isolated	Nephroblastoma, Myelomeningocele	OMIM:235000
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Eczema, Cleft palate, Short philtrum, Acne inversa	OMIM:617337
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Recurrent urinary tract infections, Hypospadias, Dental crowding, Pneumonia, Carious...	ORPHA:353281
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria, Vomiting, Lethargy	OMIM:201450
Pachyonychia Congenita	Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia	ORPHA:2309
Fanconi Anemia, Complementation Group O	Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst	OMIM:613390
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Hypospadias, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar fl...	OMIM:123790
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Feeding difficulties, Decreased circulating free fatty acid level, Lethargy, Increa...	ORPHA:324575
Meningococcal Meningitis	Renal insufficiency, Projectile vomiting, Skin rash, Elevated circulating C-reactive protein conc...	ORPHA:33475
Small Bowel Atresia	Abdominal distention, Vomiting, Feeding difficulties	ORPHA:1201
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Hydroureter, Selective tooth agenesis, Persistence of primary teeth, A...	OMIM:305620
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tremor, Gait ataxia, Ne...	OMIM:254900
Infantile Liver Failure Syndrome 2	Acute hepatic failure, Lethargy, Vomiting, Hyperammonemia	OMIM:616483
Localized Scleroderma	Fasciitis, Abnormality of the kidney, Abnormality of the dentition, Vasculitis, Dental malocclusi...	ORPHA:90289
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Hepatomegaly, Abdominal pain, Abdominal distention, Ileus, Anemia	ORPHA:83469
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Seckel Syndrome 1	Hypospadias, Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Cleft ...	OMIM:210600
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal lymphatic vesse...	ORPHA:464329
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Bronchiectasis, Keratoconjunctivitis sicca, Rheumatoid arthritis...	ORPHA:79128
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Micrognathia	OMIM:617802
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Conjugated hyperbilirubinemia, Abdominal distention, Hyp...	OMIM:618528
Cerebellar-Facial-Dental Syndrome	Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Ascending tubular aorta aneurysm, T...	ORPHA:444072
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Parkinson Disease, Late-Onset	Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Urinary urgen...	OMIM:168600
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hip osteoarthritis, Hypodontia	ORPHA:63442
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Dicarboxylic aciduria, I...	ORPHA:71212
Cri-Du-Chat Syndrome	Microretrognathia, Hypospadias, Abnormality of the kidney, Thick lower lip vermilion, Orofacial c...	OMIM:123450
Rhizomelic Chondrodysplasia Punctata, Type 2	Decreased circulating plasmalogen concentration	OMIM:222765
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Thyroid Hemiagenesis	Abdominal distention, Constipation	ORPHA:95719
Hjv Or Hamp-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Lethargy, Abnormal...	ORPHA:79230
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Tremor, Nephrotic syndrome, Hypertonia, Nephropathy, Anemia	ORPHA:1192
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Lethargy	ORPHA:276608
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Eclabion	OMIM:616395
Benign Samaritan Congenital Myopathy	Lethargy, Fasciculations	ORPHA:324581
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, T...	OMIM:619980
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxi...	OMIM:617145
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Short philtrum, Cleft palate, Micrognathia	ORPHA:949
Idiopathic Intracranial Hypertension	Lethargy, Vomiting, Nausea, Depression	ORPHA:238624
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Lethargy, Feeding difficulties, Increased C-peptide level	ORPHA:276580
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Fasciculations, Tongue fasciculations...	ORPHA:276435
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Diminished motivation, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Bab...	OMIM:615157
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Patent ductus arteriosus, Dental malocclusion, Open mouth	OMIM:619149
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Poor appetite, Hypocitraturia, Paralysis, Diarrhea, Nephroli...	ORPHA:18
Idiopathic Congenital Hypothyroidism	Feeding difficulties in infancy, Lethargy, Constipation, Neonatal hyperbilirubinemia	ORPHA:95717
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, ...	ORPHA:159
Muenke Syndrome	Recurrent otitis media, Malar flattening, High palate, Dental malocclusion	OMIM:602849
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Lymphangiectasis	OMIM:602579
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Thin upper lip vermilion, Hepatomegaly, Proteinuria, Glomerulonephritis, Elevated circulating cre...	OMIM:614376
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Aneurysm Of Interventricular Septum	Vascular dilatation	OMIM:105805
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Robinow Syndrome	Multicystic kidney dysplasia, Dental crowding, Micrognathia, Persistence of primary teeth, Tooth ...	ORPHA:97360
Combined Oxidative Phosphorylation Deficiency 2	Feeding difficulties in infancy, Lethargy	OMIM:610498
Van Maldergem Syndrome 2	Irregular dentition, Tented upper lip vermilion, Hypospadias, Micrognathia, Hypoplasia of the max...	OMIM:615546
Parkinsonism-Dystonia 3, Childhood-Onset	Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, D...	OMIM:619738
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Hydrocephalus, Polycystic kidney dysplasia	OMIM:617866
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Abnormal coronary artery course, Seborrheic der...	ORPHA:488618
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Pericardial lymphangiectasia, Ectopic kidney, Thyroid lymphangiectasia...	OMIM:235510
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Anemia	ORPHA:2668
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Unilateral renal agenesis, Hypoplasia of the ma...	OMIM:101800
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Peritoneal Cystic Mesothelioma	Abdominal distention, Peritonitis, Constipation, Abdominal pain	ORPHA:168816
X-Linked Dystonia-Parkinsonism	Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem...	ORPHA:53351
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Tremor, Dysmetria, Depression, Gait ataxia, Progressive cerebellar ataxia,...	ORPHA:254881
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Elevated uri...	OMIM:618049
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Patent ductus arteriosus, Hepatosplenomegaly, Ne...	ORPHA:505248
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Abnormality of the dentition, Patent ductus arteriosus, Deep phil...	OMIM:615398
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Peroxisome Biogenesis Disorder 2A (Zellweger)	Elevated circulating long chain fatty acid concentration, Aminoaciduria, Polycystic kidney dyspla...	OMIM:214110
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Renal cyst	OMIM:603194
Formiminoglutamic Aciduria	Anemia, Abnormal concentration of acylcarnitine in the urine, Abnormal circulating histidine conc...	ORPHA:51208
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Abdominal ...	OMIM:229600
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Partial anomalous pulmonary venous return, Elevated circulating creatinine c...	OMIM:617478
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of upper lip vermillion, Dental crowding, Micrognathia, Abnormality of the dentition,...	ORPHA:251028
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Emanuel Syndrome	Broad jaw, Chronic oral candidiasis, Recurrent urinary tract infections, Truncus arteriosus, Dent...	OMIM:609029
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ...	ORPHA:158684
Meckel Syndrome, Type 10	Hypospadias, Cleft palate, Renal cyst, Micropenis, Bifid uvula	OMIM:614175
Vein Of Galen Aneurysmal Malformation	Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology	ORPHA:1053
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Epispadias, Patent ductus arte...	OMIM:615948
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hyperphosphaturia, Carious teeth, Hypoplasia of teeth, Hypophosphatemic rickets, Medullary nephro...	OMIM:613312
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Dystonia, Hyperkalemia, Renal hypoplasia, Li...	OMIM:617595
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Hypodontia	OMIM:601345
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Torticollis, Elevated carcinoma antigen 125 level, Elevated circulating alph...	ORPHA:370348
Hyperuricemia, Hprt-Related	Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra	OMIM:300323
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia, Renovascular hypertension	ORPHA:401923
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin conce...	OMIM:603552
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemi...	OMIM:278000
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Cleft lip, Patent ductus arteriosus, Dental malocclusion, Gingival overgrowth, Clef...	OMIM:616894
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl...	ORPHA:763
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, Re...	OMIM:234100
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Folliculitis, Angular cheilitis	OMIM:167210
Gaucher Disease, Type Ii	Hepatomegaly, Rigidity, Splenomegaly, Thrombocytopenia, Feeding difficulties, Hypertonia, Gastroe...	OMIM:230900
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Patent ductus arteriosus, Ovarian cyst, Stroke, Enlarged kidney	OMIM:618188
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Renal agenesis, Pate...	OMIM:220500
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte...	OMIM:615237
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Thin upper lip vermilion, Hepatomegaly, Elevated circulating creatine kinase concentration, Micro...	ORPHA:329178
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Cholangitis, Micrognathia,...	ORPHA:731
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Dental malocclusion, Cleft palate, Bifid ...	OMIM:616580
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Pancreatic cysts, Splenomegaly, Hepatiti...	OMIM:610199
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	OMIM:609015
Late-Onset Isolated Acth Deficiency	Hyponatremia, Nausea and vomiting, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Anorexia,...	ORPHA:199299
Codas Syndrome	Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Abnormal dental enamel morpho...	ORPHA:1458
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Progeria-Short Stature-Pigmented Nevi Syndrome	Hypospadias, Selective tooth agenesis, Micrognathia, Dental malocclusion, Hypodontia, Micropenis,...	ORPHA:2959
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot...	OMIM:246700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Nausea and vomiting, Multicystic kidney dysplasia, Hydroureter, Hypoperistalsis, Abdominal disten...	ORPHA:2241
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr...	OMIM:607426
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Chronic constipation, ...	OMIM:618060
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Renal cyst	OMIM:611134
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Abdominal distention, Megacystis, Fetal megacystis, Hydronephrosis	OMIM:619362
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Anemia	ORPHA:100024
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Abnormality of the dentition, Oligod...	ORPHA:2315
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Cog4-Cdg	Hypercholesterolemia, Hepatosplenomegaly	ORPHA:263501
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Truncus arteriosus, Dental crowding, Unilateral renal agene...	ORPHA:96170
Zimmermann-Laband Syndrome	Hepatomegaly, Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatosis, Cleft palat...	ORPHA:3473
Hajdu-Cheney Syndrome	Hypospadias, Micrognathia, Absent frontal sinuses, Patent ductus arteriosus, Dental malocclusion,...	OMIM:102500
Myopathy, Myofibrillar, 8	Dental malocclusion, High palate, Elevated circulating creatine kinase concentration, Micrognathia	OMIM:617258
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent...	OMIM:224300
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Micrognathia, Patent ductus arte...	ORPHA:391641
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Thrombocytopenia, Babinski sign, Dysmetria, Acute myelomonocytic leukemia, ...	OMIM:159550
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Dystonia	ORPHA:306669
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain...	OMIM:617916
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Vacuolated lymphocytes, Vomiting, Hyponatremia, Abdom...	ORPHA:275761
Hereditary Coproporphyria	Hyponatremia, Dark urine, Small intestinal dysmotility, Abdominal pain, Abnormal circulating porp...	ORPHA:79273
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Abdominal distention, Leukocytosis, Chronic diarrhea, Bronchiectasis, Hemiparesis, ...	OMIM:620233
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Tremor, Hepatosplenomegaly, Clumsiness, Eyelid myoclonus, Myoclonus, Dysphagia, Limb myoclonus, F...	ORPHA:2590
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls, Hepatic...	OMIM:616719
Qazi-Markouizos Syndrome	Chronic constipation, Torticollis, Abdominal distention	ORPHA:3010
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia...	OMIM:619662
Malignant Peritoneal Mesothelioma	Abdominal distention, Peritonitis, Ileus, Abdominal pain	ORPHA:168811
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, Abdominal disten...	OMIM:617156
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia...	ORPHA:411536
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Thrombocytopenia, Anemia	ORPHA:2123
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Polysyndactyly With Cardiac Malformation	Stillbirth, Hepatic cysts, Renal cyst	OMIM:263630
Aceruloplasminemia	Torticollis, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Chorea, ...	OMIM:604290
Spinocerebellar Ataxia 2	Ataxia, Urinary incontinence, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, ...	OMIM:183090
Oligomeganephronia	Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag...	ORPHA:2260
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Hypercholesterolemia, Increased C-peptide...	ORPHA:528
Lopes-Maciel-Rodan Syndrome	Dystonia, Tremor, Abnormal pyramidal sign, Feeding difficulties, Bradykinesia, Ankle clonus, Hype...	OMIM:617435
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate, Micropenis, Tetralogy of...	OMIM:617925
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ...	OMIM:190350
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Lower limb spasticity, Ataxia, Feeding difficulties in infancy, Hyperhomocysti...	ORPHA:395
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Ataxia, Abnormal pyramidal sign, Feeding difficulties, Ethylmalonic aciduria, Lethargy	OMIM:201470
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Hypospadias, Short lingual frenulum, Unilateral renal agenesis, Microgn...	ORPHA:96121
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Hydrocephalus, Occipital encephalocele	OMIM:607361
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circulating guanosine conc...	OMIM:613179
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain, Thrombocytop...	ORPHA:91547
Thyroid Dyshormonogenesis 1	Lethargy, Constipation	OMIM:274400
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Otitis media, Vesicoureteral reflux, Hypospadias, Abn...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Otitis media, Vesicoureteral reflux, Hypospadias, Abn...	ORPHA:353277
Orofaciodigital Syndrome Type 1	Micrognathia, Lobulated tongue, High palate, Chronic otitis media, Multicystic kidney dysplasia, ...	ORPHA:2750
8P Inverted Duplication/Deletion Syndrome	Micrognathia, High, narrow palate, Abnormality of dental eruption, Retrognathia, Wide mouth, Abno...	ORPHA:96092
Kufor-Rakeb Syndrome	Eyelid apraxia, Urinary incontinence, Bowel incontinence, Parkinsonism, Oculogyric crisis, Rigidi...	ORPHA:306674
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst...	OMIM:614227
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Hepatomegaly, Feeding difficulties, Limb dystonia, Lethargy	OMIM:604377
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Vesicoureteral reflux, Tooth ...	ORPHA:2484
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Micrognathia, Abnormality of the ureter, Gingival overgrowth, Renal cys...	ORPHA:1834
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hydrocephalus, Anencephaly, Polycystic kidney dysplasia, Occipital meningocele, Micropenis	OMIM:616546
Mirizzi Syndrome	Dark urine, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Pancreatitis, Vomiti...	ORPHA:521219
Secondary Short Bowel Syndrome	Small intestinal dysmotility, Abdominal distention, Diarrhea, Low plasma citrulline, Malnutrition...	ORPHA:95427
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Combined Oxidative Phosphorylation Deficiency 32	Dystonia, Tremor, Horseshoe kidney, Feeding difficulties, Choreoathetosis, Constipation, Gastroes...	OMIM:617664
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Acrootoocular Syndrome	Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth...	ORPHA:2980
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Supernume...	OMIM:311200
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Tremor, Feeding difficulties, Decreased serum creatinine, Hypohomocyst...	OMIM:617744
Neural Tube Defects, Susceptibility To	Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
Smith-Magenis Syndrome	Mandibular prognathia, Hypertriglyceridemia, Tented upper lip vermilion, Delayed eruption of prim...	ORPHA:819
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria	ORPHA:363710
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Unilateral renal agenesis, Pat...	ORPHA:487796
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Feeding difficult...	OMIM:616050
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Ataxia...	ORPHA:79282
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	OMIM:157980
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Leukoencephalopathy With Vanishing White Matter 1	Lethargy, Spasticity	OMIM:603896
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Bipolar affective disorder, Gastroparesis, Elevated circulating creatine kinase c...	ORPHA:254892
Cardiomyopathy, Dilated, 1B	Vascular dilatation	OMIM:600884
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PT...	OMIM:612462
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Urinary incontinence, Bowel incontinence, Parkinsonism, Action t...	OMIM:300623
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Trisomy 13	Median cleft lip, Abnormality of the dentition, High, narrow palate, Patent ductus arteriosus, Ab...	ORPHA:3378
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Overriding aorta, Acne, Dental malocclusion, Cl...	OMIM:101200
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dystonia, Dysuria, Elevated circulating creatinine concentration, Gout, Hype...	ORPHA:79233
Alg9-Cdg	Microretrognathia, Hypoplasia of the bladder, Smooth philtrum, Thin upper lip vermilion, Hepatome...	ORPHA:79328
Evans Syndrome	Lethargy, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Auto...	ORPHA:1959
Short Syndrome	Delayed eruption of teeth, Prominent superficial veins, Micrognathia, Dental malocclusion, Downtu...	OMIM:269880
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel mor...	ORPHA:96263
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Hyperlipidemia, Odontogenic keratocysts of the jaw	ORPHA:199276
Cardiofaciocutaneous Syndrome 1	Abnormality of the dentition, Open bite, Micrognathia, Deep philtrum, Submucous cleft hard palate...	OMIM:115150
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel mor...	ORPHA:96264
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Alternating Hemiplegia Of Childhood	Dystonia, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Abdominal distention, Gastrointest...	ORPHA:2131
Sneddon Syndrome	Tremor, Nephropathy, Chorea, Hemiparesis	ORPHA:820
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Varicose veins, Macroglossia, Thick vermilion bo...	ORPHA:500095
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Thin upper lip vermilion, Dental crowding, Pierre-Robin sequence, Anterior open-bite malocclusion...	OMIM:617877
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Hepatomegaly, Giant cell hepatitis, Extramedullary hematopoiesis, Conjugated hyperbil...	ORPHA:79303
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospa...	ORPHA:93111
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Deep philtrum, Non-midline cleft lip, Orofacial cle...	ORPHA:1297
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrhea, Vomiting, Hypocholesterolemia	ORPHA:71
Crigler-Najjar Syndrome	Lethargy, Infectious encephalitis	ORPHA:205
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poiki...	OMIM:615631
Larsen-Like Syndrome	Recurrent otitis media, Malar flattening, Dental malocclusion, Cleft palate	OMIM:608545
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow	OMIM:618506
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Increased serum beta-hexosaminidase, Micrognathia, Cardiomegaly, Splenomegaly, Recu...	OMIM:252500
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Hypospadias	OMIM:610644
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S...	OMIM:612716
Meckel Syndrome 14	Occipital encephalocele, Holoprosencephaly, Polycystic kidney dysplasia	OMIM:619879
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Abdominal distention, Ureteral duplication, Secretory diarrhea, Renal duplication	OMIM:270420
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis...	OMIM:606324
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ...	ORPHA:48818
Pseudo-Torch Syndrome 2	Lethargy, Abnormal renal corticomedullary differentiation, Thrombocytopenia, Hepatomegaly	OMIM:617397
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Diarrhea, Leukocytosis, Hepat...	OMIM:209950
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis, Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Adnp Syndrome	Thin upper lip vermilion, Recurrent urinary tract infections, Urinary incontinence, Thick lower l...	ORPHA:404448
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Retrognathia, Fetal megacystis, Long philtrum	ORPHA:73246
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Head titubation, Spastic parapleg...	OMIM:312080
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentr...	ORPHA:26793
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Abdominal pain, Cardiomegaly, Increased circulating ferritin concentration, Elevate...	ORPHA:465508
Three M Syndrome 2	Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru...	OMIM:612921
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Increased insulin like growth factor binding protein acid labile subun...	OMIM:619489
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Neuronal Intranuclear Inclusion Disease	Ataxia, Urinary incontinence, Tremor, Rigidity, Episodic vomiting	OMIM:603472
Cockayne Syndrome	Urinary incontinence, Retinal arteriolar constriction, Hepatomegaly, Abnormal dental morphology, ...	ORPHA:191
Mccune-Albright Syndrome	Hyperphosphaturia, Dental malocclusion, Abnormal facial skeleton morphology, Hepatitis, Renal pho...	ORPHA:562
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperamm...	OMIM:212138
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Spondylocostal Dysostosis 1, Autosomal Recessive	Abdominal distention, Protuberant abdomen	OMIM:277300
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dystonia, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, Gait ataxia,...	ORPHA:225147
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Vomiting, A...	ORPHA:2552
Joubert Syndrome 14	Tented upper lip vermilion, Cleft palate, Renal cyst, Intracranial hemorrhage, Short philtrum, Ma...	OMIM:614424
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatomegaly, Hypospadias, Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phyt...	OMIM:614866
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ...	ORPHA:2036
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal cerebral vascular morphology, Microgna...	ORPHA:2067
Pseudoxanthoma Elasticum	Acne, Skin rash, Abnormal cerebral vascular morphology, Arterial stenosis, Nephrocalcinosis, High...	ORPHA:758
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tented upper lip vermilion, Abnormality of the kidney, Vertebrobasilar dol...	ORPHA:521445
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Acne, Gingival overgrowth, Wide mouth, Short ph...	ORPHA:137834
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Renal agenesis, Cardiomegaly, Patent ductus arteriosus, Hypoplastic aortic arch, Ho...	OMIM:306955
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Enlarged polycystic ovaries,...	ORPHA:2869
Familial Thyroid Dyshormonogenesis	Feeding difficulties in infancy, Constipation, Lethargy, Abnormal circulating thyroglobulin level...	ORPHA:95716
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Persistence of primary teeth, Recurrent pneumonia, Chronic mucocutaneous candidiasis, ...	OMIM:147060
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Nephronophthisis-Like Nephropathy 1	Kinetic tremor, Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts,...	OMIM:613159
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Xanthel...	OMIM:210250
Cystinuria	Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia	ORPHA:214
Telangiectasia, Hereditary Benign	Vascular dilatation	OMIM:187260
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Micrognathia, Bilateral cleft lip and palate, Thin vermilion border...	OMIM:618829
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Abdominal distention, Splenomegaly, Hypocalcemia, Micropenis, Hepatic failure, Hypo...	OMIM:235255
Cyanosis, Transient Neonatal	Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis	OMIM:613977
Ovarian Fibroma	Abdominal distention, Peritonitis, Abdominal pain	ORPHA:314473
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abdominal distention, Splenomegaly, Abnormal renal morphology, Hepatosplenomegaly, ...	ORPHA:1655
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Feeding diffic...	OMIM:619911
Schimke Immunoosseous Dysplasia	Renal insufficiency, Pancytopenia, Proteinuria, Thrombocytopenia, Stage 5 chronic kidney disease,...	OMIM:242900
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Hypoplas...	OMIM:211380
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate	ORPHA:3019
Osteopetrosis, Autosomal Recessive 3	Distal renal tubular acidosis, Dental malocclusion, Hepatosplenomegaly	OMIM:259730
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Fanconi Anemia, Complementation Group S	Macrodontia, Thick upper lip vermilion, Narrow palate, Dental malocclusion	OMIM:617883
Encephalitis Lethargica	Parkinsonism, Urinary incontinence, Bowel incontinence, Tremor, Lethargy	ORPHA:83600
Caroli Disease	Hepatomegaly, Cholangitis, Conjugated hyperbilirubinemia, Splenomegaly, Polycystic kidney dysplas...	ORPHA:53035
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormal vena cava morphology, Micrognathia, Renal cyst, Horseshoe kidney	ORPHA:166035
Visceral Myopathy, Familial, With External Ophthalmoplegia	Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain	OMIM:277320
Microphthalmia, Lenz Type	Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormal dental morphology, Renal hypoplasia...	ORPHA:568
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Exaggerated cupid's bow, Open bite, High, narrow palate, Dental...	ORPHA:453504
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Exaggerated cupid's bow, Open bite, High, narrow palate, Dental...	ORPHA:352665
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administrati...	OMIM:103580
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Proteinuria, Ataxia, Feeding difficulties in infancy, Tremor, Diarrhe...	OMIM:212065
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Ectopic k...	ORPHA:2136
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Megaloblastic anemia, Tremor, Dysp...	OMIM:222300
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Brachydactyly, Type B1	Micropenis, Delayed eruption of permanent teeth	OMIM:113000
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth...	ORPHA:2108
Inflammatory Pseudotumor Of The Liver	Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Abdominal distention, Vomit...	ORPHA:90003
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar...	OMIM:618727
Lethal Acantholytic Erosive Disorder	Natal tooth, Cleft palate, Cardiomegaly	ORPHA:158687
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Abdominal distention, Renal hypoplasia, Ureteral agene...	OMIM:617666
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abdomen	ORPHA:226313
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	ORPHA:2563
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Coronary artery dissection, Thickene...	ORPHA:2614
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Ataxia, Feeding difficulties, Proximal tubulopathy, Vomit...	ORPHA:2609
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Classic Phenylketonuria	Nausea and vomiting, Eczema, Tremor, Paraplegia, Depression, Hypertonia, Hyperphenylalaninemia, H...	ORPHA:79254
Ogden Syndrome	Micrognathia, Cardiomegaly, Deep philtrum, Short philtrum, High palate, Thick upper lip vermilion...	OMIM:300855
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic...	OMIM:614527
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Uveitis, Bloody diarrh...	ORPHA:99826
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Bardet-Biedl Syndrome 17	Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst	OMIM:615994
Listeriosis	Tremor, Granulomatosis, Vomiting, Conjunctivitis, Cholecystitis, Infectious encephalitis, Nausea,...	ORPHA:533
Perry Syndrome	Parkinsonism, Tremor, Depression, Apathy, Abnormality of extrapyramidal motor function	ORPHA:178509
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Micrognathia, Non-midline cleft lip, Cleft palate, Dow...	ORPHA:2075
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iro...	ORPHA:37042
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Infantile Neuronal Ceroid Lipofuscinosis	Dystonia, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus,...	ORPHA:79263
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe kidney, Aplasia of the...	OMIM:612284
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	ORPHA:79240
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom...	ORPHA:64739
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna...	ORPHA:728
Restrictive Dermopathy	Ureteral duplication, Natal tooth, Hypospadias, Micrognathia, Patent ductus arteriosus, Submucous...	ORPHA:1662
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein...	ORPHA:116
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Micrognathia, Renal hypoplasia/aplasia, High, narro...	ORPHA:3015
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Tremor, Methylmalonic aciduria, Dysmetria, Hypersegmentation of neutrophil nuclei	OMIM:615578
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Hypoammonemia, Micrognathia, Deep philtrum, Gingivitis, O...	ORPHA:534
Mosaic Trisomy 1	Microretrognathia, Thick lower lip vermilion, Renal cortical cysts, Renal cyst, Coarctation of ao...	ORPHA:1692
Genitopatellar Syndrome	Delayed eruption of teeth, Multicystic kidney dysplasia, Micrognathia, Long philtrum, Hydronephrosis	ORPHA:85201
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Depr...	ORPHA:282166
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Hypermanganesemia With Dystonia 2	Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park...	OMIM:617013
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis	ORPHA:329284
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Dentinogenesis imperfecta, Retrognathia, Delayed eruption of permanent teeth, Periodontitis, Prem...	OMIM:619269
Takayasu Arteritis	Increased inflammatory response, Vasculitis, Arterial stenosis, Ascending tubular aorta aneurysm,...	ORPHA:3287
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal cerebral vascul...	ORPHA:904
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal c...	OMIM:620306
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Abdominal distention, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal co...	OMIM:619351
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Anorexia, Abdominal distentio...	ORPHA:100085
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Mandibular prognathia, Delayed eruption of teeth, Hepatomegaly, Splenomegal...	OMIM:135500
Fryns Syndrome	Multicystic kidney dysplasia, Tented upper lip vermilion, Hypospadias, Median cleft lip, Microgna...	ORPHA:2059
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Postinfectious Vasculitis	Cerebral vasculitis, Abnormal circulating protein concentration, Viral hepatitis, Membranoprolife...	ORPHA:48435
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy, Feeding difficulties	OMIM:618232
Systemic Sclerosis	Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, El...	ORPHA:90291
Lowry-Maclean Syndrome	Hypospadias, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, na...	ORPHA:2409
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Carpenter Syndrome 1	Hydroureter, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth, Patent ductus...	OMIM:201000
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Recurrent otitis media, Dental malocclusion	OMIM:608940
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Tetanus	Elevated circulating creatine kinase concentration, Bowel incontinence, Elevated urinary norepine...	ORPHA:3299
Schwartz-Jampel Syndrome	Pursed lips, Elevated circulating creatine kinase concentration, Micrognathia, Trismus, Supernume...	ORPHA:800
Monosomy 22Q13.3	Dental crowding, Recurrent skin infections, Dental malocclusion, Hydronephrosis, Vesicoureteral r...	ORPHA:48652
Cockayne Syndrome A	Mandibular prognathia, Hepatomegaly, Renal insufficiency, Proteinuria, Delayed eruption of primar...	OMIM:216400
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion	ORPHA:181
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Wide mouth, Macroglossia, Thi...	OMIM:614607
Achondrogenesis, Type Ib	Abdominal distention	OMIM:600972
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Mercury Poisoning	Anorexia, Tremor, Episodic abdominal pain, Hypokalemia, Interstitial pneumonitis, Dystonia, Acute...	ORPHA:330021
Aicardi-Goutieres Syndrome 9	Hypertonia, Hypoalbuminemia, Micropenis, Hepatomegaly, Hemolytic anemia, Chilblains, Thickened gl...	OMIM:619487
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Mitochondrial Trifunctional Protein Deficiency	Feeding difficulties in infancy, Babinski sign, Hypocalcemia, Left ventricular hypertrophy, Letha...	ORPHA:746
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Fgfr2-Related Bent Bone Dysplasia	Hepatosplenomegaly, Natal tooth, Gingival overgrowth, Micrognathia	ORPHA:313855
Trisomy 1Q	Microretrognathia, Multicystic kidney dysplasia, Patent ductus arteriosus, Cleft palate, Congenit...	ORPHA:261344
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Hyponatremia, Anterior open-bite malocclusion, Hashimoto thyroiditis	ORPHA:83601
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene...	OMIM:613849
Stickler Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open...	ORPHA:828
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Renal cyst, Renal cell carcinoma, Renal angiomyolipoma...	OMIM:191100
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Depre...	OMIM:128100
Odontochondrodysplasia	Delayed eruption of teeth, Patent ductus arteriosus, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increa...	ORPHA:508
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth	OMIM:609638
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis of the small joints of the hand, Left ventricular hypertrophy, Arterial tortuosity...	ORPHA:284984
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Deep philtrum, Renal cyst, Coarctation of aorta, Wide mouth, Renal dysp...	OMIM:617260
Cystic Echinococcosis	Abdominal symptom, Hepatomegaly, Eosinophilia, Renal cyst, Membranous nephropathy, Ovarian cyst, ...	ORPHA:400
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa...	OMIM:300990
Achondrogenesis Type 1A	Abdominal distention	ORPHA:93299
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase co...	OMIM:615673
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Recurrent pneumonia, Feeding difficulties, Hypocalcemia, Lethargy, Micropenis, Poor ...	OMIM:607143
Diamond-Blackfan Anemia	Acute myeloid leukemia, Renal agenesis, Hypospadias, Pure red cell aplasia, Thrombocytosis, Eryth...	ORPHA:124
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Tented upper lip vermilion, Hypercalcemia, Exaggerated cupid's bow, Microgn...	ORPHA:369837
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Chronic ...	OMIM:304790
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Cleft palate, Multiple renal cysts	ORPHA:1318
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Hypospadias, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia...	OMIM:603457
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Pancreatic cysts, Chronic kidney...	OMIM:208500
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Orthostatic Hypotension 2	Anemia, Decreased glomerular filtration rate	OMIM:618182
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal oral mucosa morphology, Abnormal blood ion concentration, Renal cyst...	ORPHA:79404
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over...	ORPHA:420561
Mpdu1-Cdg	Eczema, Elevated circulating creatine kinase concentration, Prominent frontal sinuses, Renal cort...	ORPHA:79323
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Cleft...	ORPHA:33001
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De...	OMIM:610829
Immunodeficiency 96	Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-delta T cells, Increased mean...	OMIM:619774
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	ORPHA:264580
Fructose-1,6-Bisphosphatase Deficiency	Lethargy, Increased urinary glycerol, Hepatomegaly	OMIM:229700
Restrictive Dermopathy 1	Ureteral duplication, Natal tooth, Hypospadias, Micrognathia, Patent ductus arteriosus, Submucous...	OMIM:275210
Adult-Onset Distal Myopathy Due To Vcp Mutation	Urinary incontinence, Bowel incontinence, Parkinsonism, Tremor, Depression, Fasciculations, Frequ...	ORPHA:329478
Dandy-Walker Malformation With Postaxial Polydactyly	Microretrognathia, Patent ductus arteriosus, Vascular dilatation	OMIM:220220
Myopathy, Centronuclear, X-Linked	High palate, Dental malocclusion	OMIM:310400
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum	OMIM:618825
Blomstrand Lethal Chondrodysplasia	Natal tooth, Protruding tongue, Micrognathia, Coarctation of aorta, Long philtrum, Malar flattening	ORPHA:50945
Biotinidase Deficiency	Ataxia, Skin rash, Hyperammonemia, Organic aciduria, Conjunctivitis, Spastic paraparesis, Letharg...	ORPHA:79241
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteomyelitis, Skin rash, Eczema, Abnormality of the dentition, Cleft ...	ORPHA:2314
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Acu...	ORPHA:36238
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vo...	ORPHA:94080
Currarino Syndrome	Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Perianal abscess, G...	OMIM:176450
Wiedemann-Rautenstrauch Syndrome	Wide penis, Downturned corners of mouth, Short philtrum, Vesicoureteral reflux, Premature loss of...	ORPHA:3455
Caroli Syndrome	Hepatomegaly, Abnormality of the kidney, Cholangitis, Conjugated hyperbilirubinemia, Polycystic k...	ORPHA:480520
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Prominent scalp veins, Natal tooth, Hypertriglyceridemia, Hypospadias,...	OMIM:264090
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Thick ...	OMIM:309900
Intellectual Developmental Disorder, X-Linked 12	Tremor, Depression, Feeding difficulties, Hyperkinetic movements, Microphallus, Spasticity	OMIM:300957
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Renal tubular acid...	OMIM:616457
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Micrognathia, Carious teeth, Recurrent pneumonia, Thin vermilion borde...	OMIM:214150
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Enlarged kidney, Cardiomegaly	OMIM:261740
Familial Atrial Myxoma	Bacterial endocarditis, Dilatation of the cerebral artery, Vascular dilatation, Cardiomegaly	ORPHA:615
Alveolar Echinococcosis	Ataxia, Cholangitis, Eosinophilia, Abdominal pain, Hepatic cysts, Pancreatic cysts, Renal cyst, H...	ORPHA:284
Familial Visceral Myopathy	Vesicoureteral reflux, Abdominal distention, Hydroureter, Megacystis	ORPHA:2604
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Patent ductus arteriosus, Submucous clef...	ORPHA:2712
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean cor...	OMIM:616689
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Proteinuria, Pneumonia, Ectopic...	OMIM:122470
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormality of the kidney, Abnormal oral muc...	ORPHA:289
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Sub...	ORPHA:53719
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Dilation of Virchow-Robin spaces, Micrognathia, Hypophosphaturia, Dental malocclusion, Localized ...	ORPHA:73223
Syndromic Diarrhea	Hepatomegaly, Gastritis, Splenomegaly, Renal hypoplasia, Colitis, Polycystic kidney dysplasia, Ab...	ORPHA:84064
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tented upper lip vermilion, Patent ductus arteriosus after premature birth,...	OMIM:618460
Immunodeficiency 32B	Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, B...	OMIM:226990
Aarskog-Scott Syndrome	Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of the dentiti...	ORPHA:915
3M Syndrome	Delayed eruption of teeth, Hypospadias, Abnormal dental enamel morphology, Abnormal cerebral vasc...	ORPHA:2616
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Patent ductus arterio...	ORPHA:2473
Multifocal Atrial Tachycardia	Feeding difficulties in infancy, Lethargy	ORPHA:3282
Mody	Abnormality of the kidney, Elevated hemoglobin A1c, Abnormal circulating C-peptide concentration,...	ORPHA:552
Char Syndrome	Persistence of primary teeth, No permanent dentition, Patent ductus arteriosus, Thick vermilion b...	ORPHA:46627
22Q11.2 Deletion Syndrome	Hypospadias, Acne, Spina bifida, Seborrheic dermatitis, Splenomegaly, Hydrocephalus, Meningocele,...	ORPHA:567
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Abdomi...	OMIM:613795
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Leukopenia, Aminoaciduria, Vomiting, Hypocalcemia, Lymphocytosis...	OMIM:619991
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:99880
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal s...	ORPHA:363400
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Patent ductus arterios...	OMIM:267010
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Thick vermilion border, Micrognathia, Renal cyst, Horseshoe kidney	OMIM:250410
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth	OMIM:619356
Developmental Delay With Or Without Dysmorphic Facies And Autism	Thin upper lip vermilion, Micrognathia, Cleft lip, Patent ductus arteriosus, Renal hypoplasia, Re...	OMIM:618454
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia	OMIM:614450
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Enamel hypo...	OMIM:264700
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia, Giant hypertrophic gastritis, Vascular dilatation	OMIM:137280
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Persistence of primary teeth, Supernumerary tooth, Recurrent pneumonia...	OMIM:619752
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neutrophilia, Abdominal pain, Le...	ORPHA:3260
Faciodigitogenital Syndrome, Autosomal Recessive	Trismus, Deep philtrum, Dental malocclusion, Narrow palate, Wide mouth, Pollakisuria, High palate	OMIM:227330
Cerebrocostomandibular Syndrome	Cleft soft palate, Micrognathia, Ectopic kidney, Cleft lip, Patent ductus arteriosus, Carious tee...	OMIM:117650
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Abnormality of the dentition	ORPHA:289494
Ovarian Fibrothecoma	Abdominal distention, Peritonitis, Abdominal pain	ORPHA:314478
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased...	ORPHA:90041
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hyperlysinemia	Tremor, Dysmetria, Cystinuria, Opisthotonus, Gastroesophageal reflux, Vomiting, Clumsiness, Hypoo...	ORPHA:2203
Gonadoblastoma	Abdominal distention, Abdominal pain	ORPHA:206484
Coffin-Siris Syndrome 3	Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick vermilion bord...	OMIM:614608
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Rigidity, Abdominal distention, Gastroesophageal reflux, Feeding difficulties	OMIM:620275
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Dystonia, Parkinsonism, Rigidity, Depression, Bradykinesia, Urinary urgency, Myoc...	OMIM:168601
Donohue Syndrome	Abdominal distention, Long penis, Ovarian cyst	OMIM:246200
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia...	OMIM:267700
Eosinophilic Gastroenteritis	Allergic rhinitis, Elevated circulating C-reactive protein concentration, Abdominal pain, Eosinop...	ORPHA:2070
Trisomy 20P	Hypospadias, Abnormality of the kidney, Micrognathia, Abnormality of the dentition, Abnormality o...	ORPHA:261318
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:143
Spontaneous Periodic Hypothermia	Nausea and vomiting, Ataxia, Skin rash, Tremor, Diarrhea	ORPHA:29822
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Ol...	ORPHA:466650
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Downturned co...	OMIM:620186
Congenital Tufting Enteropathy	Abdominal distention, Chronic diarrhea, Secretory diarrhea, Arthritis, Vomiting, Punctate keratitis	ORPHA:92050
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Sialuria	Hepatomegaly, Splenomegaly, Poor fine motor coordination, Protuberant abdomen, Increased level of...	OMIM:269921
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Enanthema, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubuloin...	ORPHA:139402
Spastic Paraplegia 9B, Autosomal Recessive	Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paraly...	OMIM:616586
Hamamy Syndrome	Thin upper lip vermilion, Micrognathia, Dental malocclusion, Wide mouth, High palate, Everted low...	OMIM:611174
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hematuria, Increased mean c...	OMIM:617021
Williams-Beuren Syndrome	Nephrocalcinosis, Vesicoureteral reflux, Microdontia, Micropenis, Pelvic kidney, Renal hypoplasia...	OMIM:194050
Duane-Radial Ray Syndrome	Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro...	OMIM:607323
Polyembryoma	Abdominal distention, Elevated circulating alpha-fetoprotein concentration, Abdominal pain	ORPHA:180229
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Paraparesis, Lymp...	ORPHA:449427
Cockayne Syndrome B	Mandibular prognathia, Hepatomegaly, Renal insufficiency, Proteinuria, Delayed eruption of primar...	OMIM:133540
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Cerebr...	ORPHA:666
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Ataxia, Abdominal pain, Diarrhea, Elevated urinary dopamine...	OMIM:256700
Multiple Pterygium Syndrome, Escobar Variant	Hypospadias, Micrognathia, Dental malocclusion, Cleft palate, Downturned corners of mouth, High p...	OMIM:265000
Medulloblastoma	Nausea and vomiting, Ataxia, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar ataxi...	ORPHA:616
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Renal cyst, Exaggerated median tongue furrow, Hepatomegaly, Hypospadias, P...	OMIM:312870
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Bipolar affective disorder, Parkinsonism, Anorexia, Tremor	ORPHA:3077
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Accessory...	ORPHA:672
Fabry Disease	Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Tenesmus, Urinary mulberry cells, Ane...	OMIM:301500
Bardet-Biedl Syndrome	Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia	ORPHA:110
Cockayne Syndrome Type 2	Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Uveitis, Widely spaced pr...	ORPHA:90322
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Hypospadias, Ataxia, Feeding difficulties in infanc...	OMIM:252010
Nipah Virus Disease	Nausea and vomiting, Anorexia, Tremor, Myoclonus, Infectious encephalitis	ORPHA:99825
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, A...	ORPHA:54251
Behr Syndrome	Ataxia, Tremor, Babinski sign, Truncal ataxia, Dysmetria, Chronic constipation, Progressive spast...	OMIM:210000
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Lymphadenitis, Leukocyto...	OMIM:618886
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Micrognathia, Triangular mouth, Renal ...	OMIM:257300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Hypercalcemia, Urinary incontinence, Micrognathia, Abnormality of the dentition,...	ORPHA:476126
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Elevated circulating creatine kinase concentration, Micrognathia, Persistence of pr...	ORPHA:2785
Pseudohypoparathyroidism Type 1B	Calcinosis, Delayed eruption of teeth, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Low urina...	ORPHA:94089
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Enlarged ovaries, Proteinuria, Pneumonia, Skin rash, Ab...	ORPHA:2298
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Hypercholesterolemia	ORPHA:90065
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Insulinoma	Tremor, Lethargy	ORPHA:97279
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Spastic tetraparesis, Abnormal pyramidal si...	ORPHA:436271
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Whipple Disease	Hyponatremia, Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Ataxia, Pericarditis, Anorexia...	ORPHA:3452
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Persistence of primary teeth, Carious teeth, Mandibular ost...	OMIM:259710
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Abdominal distention, Secretory diarrhea, Hypochloremia, Hypokalemia, Increased cir...	OMIM:214700
Cardiac-Urogenital Syndrome	Penoscrotal hypospadias, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Pat...	OMIM:618280
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Renal malrotation, Thick vermilion border, High palate, Short philtrum...	OMIM:615866
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Elevated circulating creatine kinase concentration, Fasciculations, Dysphagia	OMIM:313200
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst, Hepatomegaly	OMIM:601539
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Aortic isthmus hyp...	OMIM:180849
Spinocerebellar Ataxia Type 27	Tremor, Hand tremor, Gait ataxia, Limb ataxia, Depression, Truncal ataxia	ORPHA:98764
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M...	ORPHA:1452
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612463
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, ...	OMIM:151660
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Orotic Aciduria	Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ...	ORPHA:199351
Distal Deletion 12Q	Late onset atopic dermatitis, Ectopic kidney, Congenital hypertrophy of left ventricle, Polycysti...	ORPHA:96149
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Kasabach-Merritt Syndrome	Reticulocytosis, Abdominal pain, Abdominal distention, Thrombocytopenia, Leukopenia, Microangiopa...	ORPHA:2330
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Prominent superficial veins, Dental crowding, Micrognathia, Dental malocclusio...	OMIM:614008
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Micrognathia, Recurrent pneumonia, Multiple bladder diverti...	OMIM:613177
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aspiration pneumonia...	ORPHA:99027
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Micrognathia, Abnormality of the tongue,...	ORPHA:912
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating C-react...	ORPHA:158061
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Renal cyst, Hypertonia, Vomiting, Hypoalbuminemia, Gastroesophageal...	OMIM:270400
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Eczema, Downturned corners of mouth, Abnormal aortic morphology, Th...	ORPHA:1001
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Urinary incontinence, Cardiomegaly, Tremor, Diarrhea, Abnormal pyramidal sign, Paraplegia...	OMIM:105210
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph...	OMIM:209885
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic...	ORPHA:845
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru...	OMIM:233450
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent urinary tract infections, Dilatation of the ventr...	ORPHA:90349
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom...	OMIM:200990
Ddost-Cdg	Tremor, Oromotor apraxia, Constipation, Gastroesophageal reflux, Nephrotic range proteinuria	ORPHA:300536
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Dental malocclusion, High palate, Malar flattening, Retrognathia, Homocystinuria, Bifid uvula	OMIM:601552
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Proximal 16P11.2 Microdeletion Syndrome	Speech apraxia, Multicystic kidney dysplasia, Feeding difficulties, Choreoathetosis, Gastroesopha...	ORPHA:261197
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Glomerulopathy, Intestinal obstruction, Renal insufficiency, Proteinuria, My...	ORPHA:183
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Oral-pharyngeal dysphagia, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, ...	ORPHA:95455
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Micrognathia, Patent ductus arteriosus, Arterial stenosis, Orofacia...	ORPHA:1556
Amoebiasis Due To Free-Living Amoebae	Increased red blood cell count, Sinusitis, Ataxia, Pneumonia, Pustule, Hemiparesis, Intrarenal ab...	ORPHA:68
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Hypospadias, Persistence of primary teeth, Patent ductus arteriosus, H...	OMIM:300166
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Vomiting	ORPHA:677
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Feeding difficulties in inf...	OMIM:239200
Acrorenal-Mandibular Syndrome	Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia	OMIM:200980
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depression, Myoclonus, Tr...	OMIM:137440
Alagille Syndrome 1	Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal h...	OMIM:118450
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Pelvic kidney, T...	OMIM:247200
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Malar flattening, Dental malocclusion, Micrognathia	OMIM:608257
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Persistence of primary teeth, Hypoplasia of the maxilla, Carious tee...	ORPHA:2044
Sclerosteosis 1	Mandibular prognathia, Dental malocclusion, Facial palsy secondary to cranial hyperostosis, Malar...	OMIM:269500
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Hyperalaninemia, Tubulointerstitial nephritis, Feeding difficulties	OMIM:614582
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Ataxia, Feeding difficulties in ...	ORPHA:1454
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner...	ORPHA:1507
Tetraamelia-Multiple Malformations Syndrome	Narrow mouth, Multicystic kidney dysplasia, Orofacial cleft, Micrognathia	ORPHA:3301
Hardikar Syndrome	Cholangitis, Vesicoureteral reflux, Bladder exstrophy, Hepatomegaly, Cleft soft palate, Patent du...	OMIM:301068
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Delayed eruption of teeth, Hepatomegaly, Open mouth, Pulmonary arte...	OMIM:280000
3-Methylglutaconic Aciduria, Type Viib	Dystonia, Ataxia, Tremor, Recurrent pneumonia, Neutropenia, Feeding difficulties, Opisthotonus, C...	OMIM:616271
Genetic Transient Congenital Hypothyroidism	Lethargy, Constipation, Increased circulating thyroglobulin level, Feeding difficulties	ORPHA:226316
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Isolated Thyroid-Stimulating Hormone Deficiency	Feeding difficulties in infancy, Depression, Clumsiness, Constipation, Hypercholesterolemia, Abno...	ORPHA:90674
Pearson Syndrome	Renal cyst, Hypocalcemia, Neutropenia, Hepatomegaly, Reticulocytosis, Ataxia, Chronic diarrhea, H...	ORPHA:699
Young-Onset Parkinson Disease	Gastroparesis, Tremor, Rigidity, Diarrhea, Depression, Bradykinesia, Constipation, Apathy, Dyston...	ORPHA:2828
Congenital Disorder Of Glycosylation, Type If	Thin vermilion border, Renal cortical cysts, Erythroderma	OMIM:609180
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the...	OMIM:170390
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Varicose veins, Macroglossia, Thick vermilion border, Nephroblasto...	OMIM:617107
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention	ORPHA:1876
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Micrognathia, Cleft palate, Tubulointerstitial nephritis, Enuresis, Wi...	ORPHA:459061
Shprintzen-Goldberg Craniosynostosis Syndrome	Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Narrow palate, High palate, Aortic ...	OMIM:182212
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Dental crowding, Cleft upper lip,...	ORPHA:2052
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti...	OMIM:608768
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Enamel hypo...	ORPHA:289157
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Smooth philtrum, Dental crowding, Micrognathia, Varicose veins, Thin vermilion border, Short phil...	OMIM:618343
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Dystonia, Ataxia, Urinary incontinence, Parkinsonism, Acanthocytosis, Feeding dif...	OMIM:234200
Bardet-Biedl Syndrome 20	Hypercholesterolemia, Micropenis, Proteinuria	OMIM:619471
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Protein avoidance, Increased circulating ferritin concentration, Dia...	OMIM:222700
Trichinellosis	Skin rash, Babinski sign, Hemiparesis, Apathy, Conjunctivitis, Dysphagia, Hemiplegia, Lethargy, N...	ORPHA:863
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Tremor, Chorea, Vomitin...	ORPHA:94093
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys...	OMIM:619405
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Deep philtrum, Vascular dilatation, Cardiomegaly	OMIM:613320
Glutaryl-Coa Dehydrogenase Deficiency	Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Glutaric aciduria, Chorea, Chro...	ORPHA:25
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu...	ORPHA:98870
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Seborrheic dermatitis, Marked delay in eruption of permanent ...	OMIM:104570
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Joubert Syndrome 2	Renal insufficiency, High palate, Renal cyst, Nephronophthisis	OMIM:608091
D-Bifunctional Protein Deficiency	Hepatomegaly, Micrognathia, Splenomegaly, Renal cyst, High palate, Increased circulating very lon...	OMIM:261515
Cranioectodermal Dysplasia 2	Hepatomegaly, Renal insufficiency, Left ventricular hypertrophy, Cholangitis, Micrognathia, Splen...	OMIM:613610
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Encephalocele, Hypospadias, Epispadias, Exencephaly	ORPHA:2211
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Hepatomegaly, Cholangitis, Accessory oral frenulum, Micrognathia, Pancreati...	OMIM:266920
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Ataxia, Reye syndrome-like episodes, Diarrhea, Abdominal dis...	OMIM:256810
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Skin rash, Increased circ...	OMIM:603553
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
Marbach-Rustad Progeroid Syndrome	Prominent superficial veins, Delayed eruption of primary teeth, Micrognathia, Eruption failure, H...	OMIM:619322
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna...	OMIM:265800
Atelosteogenesis Type I	Multiple renal cysts, Cleft palate, Micrognathia	ORPHA:1190
Fraser Syndrome 1	Hypospadias, Dental crowding, Renal hypoplasia/aplasia, Cleft upper lip, Dental malocclusion, Ren...	OMIM:219000
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Diarrhea, Thromboc...	OMIM:603554
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Vomiting, Nausea, Decre...	ORPHA:340
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Bifid tongue...	OMIM:268310
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Renal cyst, Polycystic ovaries, Vomiting, Hemiplegia, Lethargy	ORPHA:137675
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Brucellosis	Elevated circulating C-reactive protein concentration, Anorexia, Chorea, Knee osteoarthritis, Leu...	ORPHA:1304
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:263520
Ogden Syndrome	Lethargy, Torticollis, Hypertonia	ORPHA:276432
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ...	ORPHA:2780
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Micrognathia, Patent ductus arteriosus, Horseshoe kidney, C...	ORPHA:99776
Perry Syndrome	Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Apathy, Dystonia	OMIM:168605
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivitis sicc...	ORPHA:309031
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Focal dystonia, A...	ORPHA:52368
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam...	ORPHA:276621
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphate...	ORPHA:289176
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Elevated circulating C-reactive protein concentration, Abdomin...	ORPHA:97214
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Neuromuscular dysphagia, Bradykine...	ORPHA:240071
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr...	ORPHA:97339
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Gingival fibromatosis, Renal cyst, Renal cell ...	OMIM:613254
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Patent ductus arteriosus, Thick...	ORPHA:1465
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis, Multiple unerupted teeth...	ORPHA:2063
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Feeding difficulties in infancy, Constipation, Letharg...	ORPHA:90673
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Abdom...	ORPHA:653
Frank-Ter Haar Syndrome	Thin upper lip vermilion, Acne, Micrognathia, Dental malocclusion, Gingival overgrowth, Wide mout...	OMIM:249420
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Abnormal dental morphology, Abnormal dental enamel morphology, Rena...	ORPHA:2092
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Recurrent urinary tract infections, Carious teeth, Widely spaced teeth...	OMIM:619229
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Bloody diarrhea, Hypertonia, Hepatomegaly, Hemolytic anemia, Chilblains, Hepa...	OMIM:615846
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia	ORPHA:447896
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Feeding difficulties in infancy, Abdominal distention,...	OMIM:218700
Lmna-Related Cardiocutaneous Progeria Syndrome	Papillary renal cell carcinoma, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Joubert Syndrome 1	Protruding tongue, Renal cyst, Macroglossia, Triangular-shaped open mouth, Nephropathy	OMIM:213300
Spondyloepimetaphyseal Dysplasia, Shohat Type	Splenomegaly, Abdominal distention, Hepatomegaly	OMIM:602557
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia	ORPHA:69663
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion	OMIM:616202
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Glycerol Kinase Deficiency	Hypertriglyceridemia, Increased urinary glycerol, Hyperglycerolemia, Chronic pancreatitis, Lethar...	OMIM:307030
Menkes Disease	Osteomyelitis, Micrognathia, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Bl...	ORPHA:565
Dubowitz Syndrome	Delayed eruption of teeth, Hypospadias, Eczema, Micrognathia, Carious teeth, Velopharyngeal insuf...	OMIM:223370
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Turnpenny-Fry Syndrome	Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, P...	OMIM:618371
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
C Syndrome	Hepatomegaly, Accessory oral frenulum, Micrognathia, Patent ductus arteriosus, Renal cortical cys...	OMIM:211750
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hydrocephalus, Renal hypoplasia, Renal cyst, Stillbirth, Polycystic kidney dysplasia, Hyperbiliru...	OMIM:210710
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, High palate, Everted lower lip vermilion, Narrow mouth, Retrognathi...	ORPHA:261349
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Eczema, Micrognathia, Seborrheic dermatiti...	ORPHA:369950
Parkinson Disease 21	Bradykinesia, Tremor, Rigidity, Parkinsonism	OMIM:616361
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abdominal distention, Hepatitis, Gastrointestinal inflammation, Hy...	ORPHA:186
Lymphatic Malformation 7	Abdominal distention, Anemia	OMIM:617300
Serotonin Syndrome	Clonus, Tremor, Rigidity, Diarrhea, Hypertonia, Myoclonus, Hepatic failure, Acute kidney injury, ...	ORPHA:43116
Magel2-Related Prader-Willi-Like Syndrome	Feeding difficulties, Chronic constipation, Gastroesophageal reflux, Lethargy, Micropenis, Poor s...	ORPHA:398069
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati...	OMIM:618733
Eiken Syndrome	Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee...	OMIM:600002
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia, Hepatomegaly	OMIM:248370
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Ureteral stenosis, Micrognathia, Cleft palat...	OMIM:309350
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Protuberant abdomen	ORPHA:457485
Thyroid Hypoplasia	Abdominal distention, Constipation	ORPHA:95720
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Patent ductus arteriosus, Recurrent pneumonia, Dental crowding, Persistence of primary teeth	OMIM:619769
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T...	OMIM:614298
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention, Premature osteoarthritis, Hepatosplenomegaly	ORPHA:93352
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Renal interst...	ORPHA:91500
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen...	ORPHA:300298
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Tooth agenesi...	ORPHA:2637
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Neonatal hyperbilirubinemia, Micrognathia	ORPHA:73272
Gallbladder Neuroendocrine Tumor	Anorexia, Abdominal distention, Episodic abdominal pain, Cholecystitis, Nausea	ORPHA:100086
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Distal Deletion 15Q	Thin upper lip vermilion, Multicystic kidney dysplasia, Hypospadias, Micrognathia, Double outlet ...	ORPHA:1596
Focal Dermal Hypoplasia	Delayed eruption of teeth, Ureteral duplication, Cleft upper lip, Dental malocclusion, Horseshoe ...	OMIM:305600
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis	OMIM:300894
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Protuberant abdomen	OMIM:613330
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Carious teeth, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures	OMIM:277440
Platyspondylic Dysplasia, Torrance Type	Abdominal distention	ORPHA:85166
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Abdominal distention, Hydronephrosis, Urethral atresia	OMIM:271520
Noonan Syndrome 1	Hypospadias, Micrognathia, High, narrow palate, Patent ductus arteriosus, Dental malocclusion, Cl...	OMIM:163950
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy, Abnormal circulating thyroglobulin level, Depression	ORPHA:99832
Sandifer Syndrome	Torticollis, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic vo...	ORPHA:71272
Oliver Syndrome	Mandibular prognathia, High palate, Short philtrum, Dental malocclusion	ORPHA:2920
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r...	OMIM:218400
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Nausea and vomiting, Elevated hemoglobin A1c, Tremor, Babinski sign, Feeding difficulties, Renal ...	OMIM:616539
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/aplasia, Myelome...	ORPHA:93929
Arterial Tortuosity Syndrome	Median cleft lip and palate, Abnormal zygomatic bone morphology, Pulmonary artery stenosis, Myoca...	ORPHA:3342
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Ataxia, Anorexia, Tr...	ORPHA:3008
Semilobar Holoprosencephaly	Limb dystonia, Abnormal central motor function, Oromotor apraxia, Feeding difficulties, Depressio...	ORPHA:220386
Alobar Holoprosencephaly	Limb dystonia, Abnormal central motor function, Oromotor apraxia, Feeding difficulties, Depressio...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Limb dystonia, Abnormal central motor function, Oromotor apraxia, Feeding difficulties, Depressio...	ORPHA:93926
Lobar Holoprosencephaly	Limb dystonia, Abnormal central motor function, Oromotor apraxia, Feeding difficulties, Depressio...	ORPHA:93924
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth	ORPHA:950
Pseudohypoparathyroidism Type 1C	Calcinosis, Delayed eruption of teeth, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Low urina...	ORPHA:79444
Carpenter Syndrome 2	Carious teeth, High, narrow palate, Patent ductus arteriosus, Dental malocclusion, Narrow palate,...	OMIM:614976
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonep...	OMIM:181270
Mucopolysaccharidosis Type 3	Hepatomegaly, Vocal cord paresis, Ataxia, Cardiomegaly, Heparan sulfate excretion in urine, Splen...	ORPHA:581
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Micrognathia, Cleft lip, Patent ductus arteriosus, Renal cyst, Furrowed tongue, High...	OMIM:616975
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Recurrent pneumonia, Feeding difficulties, Lethargy, Right ventricula...	ORPHA:1329
Roberts Syndrome	Long penis, Polycystic kidney dysplasia	ORPHA:3103
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depress...	ORPHA:79095
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent ...	ORPHA:2250
Spondylocarpotarsal Synostosis Syndrome	Cleft palate, Enamel hypoplasia, Failure of eruption of permanent teeth, Renal cyst	OMIM:272460
Niemann-Pick Disease Type C	Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Aspirat...	ORPHA:646
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Micrognathia, Cleft palate, Glossoptosis, Short hard palate	ORPHA:1393
Sim1-Related Prader-Willi-Like Syndrome	Lethargy, Micropenis, Nasogastric tube feeding	ORPHA:398079
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Spastic dysarthria, Blepharospasm, Oculo...	ORPHA:240094
Hurler Syndrome	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri...	OMIM:607014
Dubowitz Syndrome	Delayed eruption of teeth, Hypospadias, Eczema, Micrognathia, Abnormality of the dentition, Submu...	ORPHA:235
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy...	ORPHA:1578
Osteoglosphonic Dysplasia	Tooth agenesis, Multiple unerupted teeth, Micrognathia	ORPHA:2645
Fibrochondrogenesis 2	Protuberant abdomen	OMIM:614524
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Normochromic anemia...	OMIM:615512
Hajdu-Cheney Syndrome	Hepatomegaly, Hypospadias, Abnormality of the dentition, Absent frontal sinuses, Open bite, Paten...	ORPHA:955
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Protuberant abdomen	OMIM:617102
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit...	ORPHA:29073
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Vascular Hyalinosis	Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Progressive Supranuclear Palsy	Dystonia, Rigidity, Tremor, Depression, Bradykinesia, Blepharospasm, Dysphagia	ORPHA:683
Glycine Encephalopathy	Lethargy, Poor suck, Hyperglycinemia	ORPHA:407
Renal Nutcracker Syndrome	Proteinuria, Vulval varicose vein, Hematuria, Varicose veins, Renal artery stenosis, Microscopic ...	ORPHA:71273
Anemia, Congenital Dyserythropoietic, Type Iiia	Hemosiderinuria, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemi...	OMIM:105600
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Abdominal distention, Hepatitis, Bloody dia...	ORPHA:436252
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri...	OMIM:253220
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Abnormality of the gingiva, Osteoarthritis, Gingivitis, Periodontitis, Micro...	ORPHA:286
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam...	ORPHA:29072
Rothmund-Thomson Syndrome	Calcinosis, Delayed eruption of teeth, Skin rash, Abnormal dental enamel morphology, Selective to...	ORPHA:2909
Tetrasomy 9P	Myositis, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum...	ORPHA:3310
Trisomy 9P	Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth	ORPHA:236
Femoral-Facial Syndrome	Micropenis, Renal agenesis, Polycystic kidney dysplasia, Abnormal renal collecting system morphology	OMIM:134780
Intermediate Uveitis	Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis	ORPHA:279914
Coronary Arterial Fistula	Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Bacterial endocarditis, Vascula...	ORPHA:2041
Lumbar Syndrome	Renal agenesis, Hypospadias, Spina bifida, Myelomeningocele, Vesicoureteral reflux, Micropenis, B...	ORPHA:83628
Ataxia-Telangiectasia	Sinusitis, Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Chronic diarrhea...	OMIM:208900
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Cleft...	OMIM:610188
Multiple System Atrophy 1, Susceptibility To	Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Urinar...	OMIM:146500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Micrognathia, Renal cortical cysts, Downturned corners of mouth, Long p...	OMIM:618548
Doors Syndrome	Short lingual frenulum, Nephrocalcinosis, Downturned corners of mouth, Widely spaced teeth, High ...	ORPHA:79500
Immunodeficiency 47	Splenomegaly, Hypercholesterolemia, Decreased circulating copper concentration, Hepatomegaly	OMIM:300972
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology	ORPHA:1782
Colonic Atresia	Abdominal distention	ORPHA:1198
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Hypospadias, Micrognathia, Abnormality of the gingiva, Recurrent pneum...	ORPHA:798
Cocaine Intoxication	Proteinuria, Elevated circulating creatine kinase concentration, Glomerulonephritis, Abdominal pa...	ORPHA:90068
Intrahepatic Cholestasis Of Pregnancy	Skin rash, Abdominal pain, Tremor, Depression, Cholecystitis, Increased serum bile acid concentra...	ORPHA:69665
Joubert Syndrome 21	Splenomegaly, Hyperechogenic kidneys, Chronic sinusitis, Renal cyst	OMIM:615636
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Nausea	OMIM:602481
Good Syndrome	Abnormal leukocyte morphology, Recurrent urinary tract infections, Sinusitis, Recurrent skin infe...	ORPHA:169105
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Renal cyst, Micropenis, Pelvic ...	ORPHA:464311
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Tremor, Fasciculations, Hydronephrosis, Limb hypertonia	OMIM:620327
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Hypospadias, Hypoplasia of the maxilla, Eruptio...	OMIM:166250
Joubert Syndrome With Renal Defect	Renal insufficiency, Ataxia, Tremor, Feeding difficulties, Oculomotor apraxia, Nephropathy	ORPHA:220497
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Glossopharyngeal Neuralgia	Abnormal palate morphology, Mandibular pain, Vascular dilatation, Tongue pain	ORPHA:221098
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Dilatation of the ventricular cavity, Bronchiectasis, Coarctation of a...	ORPHA:90348
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Hepatomegaly, Dystonia, Ataxia, Elevated circulating creatine kinase concentratio...	OMIM:615356
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis, Arthritis, Dysphagia, Mildly elevated creatine kinase	ORPHA:397744
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Protuberant abdomen	OMIM:184250
Noonan Syndrome With Multiple Lentigines	Vascular dilatation, Hypospadias, Abnormal localization of kidney	ORPHA:500
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	High, narrow palate, Recurrent pneumonia, Aortic dissection, Arterial dissection, Abnormal venous...	ORPHA:1900
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	OMIM:613327
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t...	OMIM:607812
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Eczema, Unilateral renal agenesis, Patent ductus arteriosus, Renal cyst, Micropenis,...	ORPHA:464306
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Deep philtrum, Uraciluria, High palate, Open mouth, Retrognathia	ORPHA:1675
Recon Progeroid Syndrome	Prominence of the premaxilla, Dental crowding, Keratoconjunctivitis sicca, Delayed eruption of pe...	OMIM:620370
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Nephrolithiasis, Hypercalciuria, ...	ORPHA:652
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Dystonia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprot...	OMIM:606002
Fryns Syndrome	Microretrognathia, Ureteral duplication, Tented upper lip vermilion, Renal agenesis, Hypospadias,...	OMIM:229850
Pitt-Hopkins Syndrome	Tooth malposition, Wide mouth, Short philtrum, Thick vermilion border, Esophagitis, Failure of er...	ORPHA:2896
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Truncus arteriosus, Renal hypoplasia/...	ORPHA:2538
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Ata...	OMIM:214500
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ...	ORPHA:2769
Charge Syndrome	Aortic arch aneurysm, Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology...	ORPHA:138
Cranioectodermal Dysplasia 1	Hepatomegaly, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tu...	OMIM:218330
Trisomy 10P	Abnormality of the kidney, Micrognathia, Orofacial cleft, Abnormal lip morphology, Thin vermilion...	ORPHA:171929
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Dy...	OMIM:615530
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo...	ORPHA:411629
Pseudohypoparathyroidism Type 1A	Calcinosis, Delayed eruption of teeth, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Low urina...	ORPHA:79443
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Alveolar ridge over...	OMIM:301072
Opsismodysplasia	Renal phosphate wasting, Protuberant abdomen, Hypophosphatemia	OMIM:258480
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Chorea, Tubulointerstitial nephritis, Leuk...	ORPHA:289390
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Feeding difficu...	OMIM:618056
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Elevat...	OMIM:256040
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Hydroureter, Hypospadias, Ectopic kidney, Co...	OMIM:135900
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Hepatomegaly, Pneumonia, Carious teeth, Splenomegaly, Dermatan sulfate...	OMIM:253200
Autosomal Dominant Spastic Paraplegia Type 9A	Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Urinary urgency, Pollakisur...	ORPHA:447753
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup...	OMIM:614188
Faciocardiomelic Syndrome	Micrognathia, Dental malocclusion, Wide mouth, Long philtrum, Hyperplasia of the maxilla	OMIM:612731
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Eczema, Delayed eruption of primary teeth, Widely spaced teeth, Urinary retention	OMIM:617799
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Micrognathia, Cleft palate, Coarctation of aorta, Abnormal aortic m...	ORPHA:1052
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Narrow mouth, Nep...	ORPHA:77301
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Micrognathia, Ascending aorta hypoplasia, Deep philtrum, ...	OMIM:619503
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholo...	ORPHA:167
De Barsy Syndrome	Delayed eruption of teeth, Patent ductus arteriosus, Hypoplastic aortic arch, Small, conical teet...	ORPHA:2962
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Micrognathia, Tented philtrum, Renal cyst, Keratoconjunctivitis sicca, Long philtrum	ORPHA:495875
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi...	ORPHA:1071
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Gastroparesis, Ataxia, Tremor, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperala...	OMIM:614052
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Atrial Standstill 2	Dilatation of the ventricular cavity, Hyperpepsinogenemia I, Stroke, Vascular dilatation	OMIM:615745
Roberts-Sc Phocomelia Syndrome	Hypospadias, Hydrocephalus, Long penis, Frontal encephalocele, Horseshoe kidney, Stillbirth, Poly...	OMIM:268300
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Proteinuria, Ataxia, Elevated circulating C-reactive p...	ORPHA:355
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Feeding d...	OMIM:610505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Elevated circ...	OMIM:615287
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Iron deficiency ...	ORPHA:358
Phace Association	Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc...	OMIM:606519
Loeys-Dietz Syndrome	Arterial tortuosity, Micrognathia, Patent ductus arteriosus, Orofacial cleft, High palate, Aortic...	ORPHA:60030
C Syndrome	Multicystic kidney dysplasia, Accessory oral frenulum, Micrognathia, Renal hypoplasia/aplasia, Gi...	ORPHA:1308
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus trac...	OMIM:600145
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Prominent superficial veins, Micrognathia, Hypoplasia of the maxilla, ...	OMIM:601812
Otopalatodigital Syndrome, Type I	Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted teeth, Narrow m...	OMIM:311300
Tick-Borne Encephalitis	Speech apraxia, Incoordination, Elevated circulating C-reactive protein concentration, Anorexia, ...	ORPHA:297
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Hepatomegaly, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulati...	OMIM:619534
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Malnutrit...	ORPHA:79408
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypospadias, Feeding difficulties, Protuberant abdomen, Tube feeding, Micropenis	OMIM:619479
Thanatophoric Dysplasia, Type I	Protuberant abdomen	OMIM:187600
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma, Pu...	ORPHA:538
Occipital Horn Syndrome	Recurrent urinary tract infections, Venous insufficiency, High, narrow palate, Hepatitis, Bladder...	ORPHA:198
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Renal cell carcinoma, Stroke...	ORPHA:892
Congenital Gerbode Defect	Bacterial endocarditis, Constrictive pericarditis, Vascular dilatation, Right ventricular hypertr...	ORPHA:99095
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, H...	ORPHA:373
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Cleft...	ORPHA:87
X-Linked Acrogigantism	Abdominal distention, Ataxia	ORPHA:300373
Coffin-Lowry Syndrome	Mandibular prognathia, Thick lower lip vermilion, Dental malocclusion, Narrow palate, High palate...	OMIM:303600
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Skin ra...	ORPHA:464
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Occipital meningo...	ORPHA:268810
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Hepatomegaly, Sinusitis, Skin rash, Eczema, Pneumonia, Osteomyelitis, ...	ORPHA:811
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Long philtrum	ORPHA:263463
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano...	OMIM:619381
Pagod Syndrome	Abnormal aortic morphology, Multicystic kidney dysplasia, Pulmonary artery hypoplasia, Renal hypo...	ORPHA:991
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Premature loss of primary teeth, Splenomegaly, Pulmonary...	ORPHA:667
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Micrognathi...	ORPHA:564
Metachromatic Leukodystrophy	Incoordination, Ataxia, Urinary incontinence, Bowel incontinence, Tremor, Feeding difficulties, D...	ORPHA:512
Fibromuscular Dysplasia, Multifocal	Tortuous cerebral arteries, Dental crowding, Micrognathia, Vertebral artery tortuosity, Celiac ar...	OMIM:619329
Cleidocranial Dysplasia 1	Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup...	OMIM:119600
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Chr...	ORPHA:227990
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Dystonia, Feeding difficulties, Lower limb hypertonia, Gastro...	OMIM:616268
Schneckenbecken Dysplasia	Protuberant abdomen	OMIM:269250
Cornelia De Lange Syndrome	Delayed eruption of teeth, Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia...	ORPHA:199
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o...	OMIM:268400
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Renal insufficiency, Hypospadias, Micrognathia, Renal cortical cysts, Hyperechogenic kidneys, Rec...	ORPHA:397715
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ...	ORPHA:391665
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology	ORPHA:3353
Rothmund-Thomson Syndrome Type 2	Calcinosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dent...	ORPHA:221016
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Abdominal distention, Renal hypoplasia, Renal cyst, ...	ORPHA:93271
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Protuberant abdomen	OMIM:151210
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Chr...	ORPHA:227982
Jacobsen Syndrome	Multicystic kidney dysplasia, Eczema, Coarctation of aorta, Abnormal palate morphology, Long phil...	ORPHA:2308
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Tremor, Paralysis,...	ORPHA:79102
Camurati-Engelmann Disease	Delayed eruption of teeth, Hepatomegaly, Carious teeth, Splenomegaly, Craniofacial osteosclerosis...	ORPHA:1328
Rothmund-Thomson Syndrome Type 1	Calcinosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dent...	ORPHA:221008
Incontinentia Pigmenti	Delayed eruption of teeth, Maculopapular exanthema, Conical tooth, Keratitis, Uveitis, Oligodonti...	OMIM:308300
1P36 Deletion Syndrome	Aortic arch aneurysm, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Patent ductus ...	ORPHA:1606
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Hypoplasia of the maxilla, Microgna...	OMIM:164210
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Widely spaced te...	ORPHA:2152
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Clonus, Tremor, Neutropenia, Feeding difficulties, 3-Methylglutaric aciduria, 3-Methylg...	OMIM:617248
Achondrogenesis, Type Ii	Protuberant abdomen	OMIM:200610
Johanson-Blizzard Syndrome	Hepatomegaly, Hypospadias, Urethrovaginal fistula, Increased VLDL cholesterol concentration, Conj...	OMIM:243800
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Thin upper lip vermilion, Hypospadias, Exagge...	ORPHA:709
Thyroid Ectopia	Abdominal distention, Constipation	ORPHA:95712
Dyggve-Melchior-Clausen Disease	Frequent falls, Spastic tetraparesis, Protuberant abdomen	ORPHA:239
Fibrochondrogenesis 1	Protuberant abdomen	OMIM:228520
Lethal Kniest-Like Dysplasia	Protuberant abdomen	ORPHA:2347
Lacrimoauriculodentodigital Syndrome 1	Renal agenesis, Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the paroti...	OMIM:149730
Scorpion Envenomation	Hemifacial spasm, Increased circulating NT-proBNP concentration, Ketonuria, Ataxia, Acute pancrea...	ORPHA:466677
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, ...	ORPHA:261537
Hydranencephaly	Lethargy, Spastic diplegia, Opisthotonus	ORPHA:2177
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis...	ORPHA:821
Mowat-Wilson Syndrome	Delayed eruption of teeth, Hypospadias, Abnormality of the kidney, Pulmonary artery sling, Pulmon...	OMIM:235730
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Transient ischemic attack, Dental crowding, Short lingual frenulum, Pe...	ORPHA:740
Loeys-Dietz Syndrome 2	Micrognathia, Descending thoracic aorta aneurysm, Bifid uvula, Abdominal aortic aneurysm, Eosinop...	OMIM:610168
Mucolipidosis Type Ii	Splenomegaly, Hepatosplenomegaly, Protuberant abdomen, Otitis media, Left ventricular hypertrophy...	ORPHA:576
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Feeding difficulties in infancy, Lethargy, Abnormal circulating thyroglobulin level, Constipation	ORPHA:226307
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hypoplasia of the maxilla, Delayed eruption of teeth, Gingival overgrowth, Micrognathia	OMIM:259600
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Hypertriglyceridemia, Polyuria	OMIM:606721
Marfan Syndrome	Arthralgia/arthritis, Dental crowding, Micrognathia, Open bite, High, narrow palate, Descending a...	ORPHA:558
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Panniculitis, Eczema, Gingival overgrowth	ORPHA:508542
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, ...	ORPHA:261552
Genitopatellar Syndrome	Delayed eruption of teeth, Multicystic kidney dysplasia, Micrognathia, Micropenis, Hydronephrosis	OMIM:606170
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Hypospadias, Recurrent pneumonia, Hypoplasia of ...	ORPHA:93357
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Decreased mitochondrial complex III activity in liver tissue, Ataxia, Cholangit...	OMIM:124000
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth	ORPHA:1231
Loeys-Dietz Syndrome 1	Eosinophilic infiltration of the esophagus, Arterial tortuosity, Micrognathia, Descending thoraci...	OMIM:609192
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Proteus Syndrome	Abnormal dental enamel morphology, Carious teeth, Splenomegaly, Enlarged polycystic ovaries, Long...	ORPHA:744
Neu-Laxova Syndrome 2	Protuberant abdomen	OMIM:616038
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Hyperphosphatemia, Hypocalcemic tetany, Calvarial os...	ORPHA:93325
African Trypanosomiasis	Urinary incontinence, Tremor, Choreoathetosis, Vomiting, Conjunctivitis, Iritis, Nausea, Hepatome...	ORPHA:3385
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, Apathy, ...	OMIM:601104
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Cleft upper lip, Micrognathia, Abnormality of the dentition, Lower l...	OMIM:113620
Achondrogenesis, Type Ia	Protuberant abdomen	OMIM:200600
Viss Syndrome	Chronic gastritis, Eczema, Abdominal distention, Chronic diarrhea, Hypereosinophilia, Atopic derm...	OMIM:619472
Pineoblastoma	Lethargy, Paralysis	ORPHA:251909
Atelosteogenesis Type Ii	Protuberant abdomen	ORPHA:56304
Familial Adenomatous Polyposis 1	Eruption failure, Supernumerary tooth, Carious teeth, Odontoma	OMIM:175100
Wrinkly Skin Syndrome	Delayed eruption of teeth, Carious teeth, Prominent veins on trunk, High palate, High noncerulopl...	ORPHA:2834
Greenberg Dysplasia	Hepatomegaly, Protuberant abdomen, Hepatosplenomegaly	OMIM:215140
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Thyroiditis, Eruption failure, Odontoma, Pancr...	ORPHA:733
Sarcoidosis	Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hepa...	ORPHA:797
Telangiectasia, Hereditary Hemorrhagic, Type 4	Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat...	OMIM:610655
Codas Syndrome	Delayed eruption of teeth, Enamel hypoplasia	OMIM:600373
Steinert Myotonic Dystrophy	Hypercholesterolemia	ORPHA:273
Atelosteogenesis, Type I	Protuberant abdomen	OMIM:108720
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,...	OMIM:107480
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Eczema, Ker...	OMIM:308205
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Carious teeth, High palate, Long philtrum, Microdon...	OMIM:278250
Gardner Syndrome	Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition	ORPHA:79665
Ramon Syndrome	Delayed eruption of teeth, Juvenile rheumatoid arthritis, Gingival fibromatosis, Narrow palate	OMIM:266270
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Protuberant abdomen	OMIM:618019
Waardenburg Syndrome, Type 2E	Vascular dilatation	OMIM:611584
Weill-Marchesani Syndrome 2	Protuberant abdomen	OMIM:608328
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth	OMIM:300952
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplasia of the tooth germ, Cardiomegaly, Hypoplasia of the maxilla, ...	OMIM:182250
Pallister-Killian Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Mic...	OMIM:601803
Pyknoachondrogenesis	Abdominal distention	ORPHA:3003
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Hepatosplenomegaly, Feeding difficulties, Protuberant abdomen, Gastrostomy tube fee...	ORPHA:96334
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Thyroiditis, Enlargement of parotid gland, Tubulointerstitial nephritis, Keratoconjunct...	ORPHA:79078
Pmm2-Cdg	Mandibular prognathia, Thin upper lip vermilion, Pericarditis, Proteinuria, Reduced thyroxin-bind...	ORPHA:79318
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Delayed eruption of teeth, High palate, Widely spaced teeth, Long philtrum, Microdontia	OMIM:143095
Multiple Osteochondromas	Arthritis, Pseudoaneurysm, Urinary retention	ORPHA:321
Telangiectasia, Hereditary Hemorrhagic, Type 1	Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati...	OMIM:187300

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 Nphp3

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 Nphp3.

No publications found that use IMPC mice or data for Nphp3.

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MGI Allele	Allele Type	Produced
Nphp3^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Nphp3 MGI:1921275

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Electroretinography 3

X-ray

Eye Morphology

Combined SHIRPA and Dysmorphology

Auditory Brain Stem Response

Electrocardiogram (ECG)

Human diseases caused by Nphp3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data