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Gene: Atp8b1 MGI:1859665

Gene Summary

Name:

ATPase, class I, type 8B, member 1

Synonyms:

FIC1, Ic

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased hematocrit	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	3.40×10^-08
abnormal retina blood vessel morphology	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	7.79×10^-06
anophthalmia	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased prepulse inhibition	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	0.00
improved glucose tolerance	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	2.14×10^-11
abnormal startle reflex	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	5.02×10^-10
increased leukocyte cell number	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	6.76×10^-06
decreased exploration in new environment	Atp8b1^em1(IMPC)Tcp	HOM	Middle aged adult	9.99×10^-12
decreased mean corpuscular hemoglobin	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	3.84×10^-07
decreased hemoglobin content	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	1.57×10^-05
increased circulating potassium level	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	4.85×10^-10
decreased mean corpuscular volume	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	9.78×10^-05
abnormal auditory brainstem response	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	1.96×10^-09
prolonged RR interval	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	6.29×10^-05
decreased erythrocyte cell number	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	5.54×10^-05
increased grip strength	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	5.50×10^-09
increased circulating bilirubin level	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	1.11×10^-05
decreased hematocrit	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	2.92×10^-05
abnormal startle reflex	Atp8b1^em1(IMPC)Tcp	HOM	Middle aged adult	4.90×10^-08
increased lean body mass	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	8.49×10^-22
decreased circulating triglyceride level	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	9.00×10^-22
decreased bone mineral content	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	2.38×10^-16
decreased heart rate	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	9.44×10^-06
decreased circulating HDL cholesterol level	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	4.01×10^-07
decreased hemoglobin content	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	4.19×10^-10
decreased total body fat amount	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	1.17×10^-18
decreased bone mineral density	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	1.50×10^-17
decreased fasting circulating glucose level	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	4.31×10^-08
enlarged urinary bladder	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal optic disk morphology	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	2.07×10^-05
increased circulating alanine transaminase level	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	2.41×10^-05
decreased bone mineral density	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	5.66×10^-11
abnormal bone structure	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	5.82×10^-09
increased circulating alkaline phosphatase level	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	4.10×10^-08
long tibia	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	3.99×10^-05
decreased heart weight	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	3.46×10^-06
increased circulating aspartate transaminase level	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	7.81×10^-06
increased lean body mass	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	2.36×10^-05
polycystic kidney	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	0.00
persistence of hyaloid vascular system	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	6.05×10^-05
decreased circulating glucose level	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	4.63×10^-17
decreased bone mineral content	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	5.67×10^-21
abnormal retina vasculature morphology	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	8.18×10^-06
decreased exploration in new environment	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	4.73×10^-24
corneal opacity	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	5.86×10^-06
decreased startle reflex	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	6.12×10^-05
decreased grip strength	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	6.12×10^-06
long tibia	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	4.46×10^-05
decreased erythrocyte cell number	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	9.51×10^-05
small seminal vesicle	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal bone structure	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	5.35×10^-07

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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.

Eye Morphology

Images Ophthalmoscopy

93 Images

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Eye Morphology

Images Ophthalmoscopy

105 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

121 Images

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Gross Pathology and Tissue Collection

Images

12 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

22 Images

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Histopathology

Images

31 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Histopathology

Images

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Atp8b1 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 Atp8b1 (4 diseases)
Human diseases predicted to be associated with Atp8b1 (1616 diseases)

The table below shows human diseases associated to Atp8b1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbil...	OMIM:211600
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ...	OMIM:147480
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ...	ORPHA:69665

The table below shows human diseases predicted to be associated to Atp8b1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju...	OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju...	OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Hypervalinemia And Hyperleucine-Isoleucinemia	Hypervalinemia, Hyperisoleucinemia, Elevated circulating alanine aminotransferase concentration, ...	OMIM:618850
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality	OMIM:237500
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:79235
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia	OMIM:143500
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I...	ORPHA:3111
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Crigler-Najjar Syndrome, Type Ii	Jaundice, Unconjugated hyperbilirubinemia	OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia, Jaundice	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Edinburgh Malformation Syndrome	Jaundice, Failure to thrive, Neonatal hyperbilirubinemia	OMIM:129850
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ...	ORPHA:890
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n...	ORPHA:79234
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H...	OMIM:614480
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun...	OMIM:619256
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia, Jaundice	OMIM:237450
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Crigler-Najjar Syndrome, Type I	Jaundice, Unconjugated hyperbilirubinemia	OMIM:218800
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:237800
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasi...	OMIM:601847
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula...	OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta...	OMIM:619484
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Malaria	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Cogn...	ORPHA:673
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, S...	ORPHA:93323
Dysplasia Of Head Of Femur, Meyer Type	Multicentric femoral head ossification, Congenital hip dislocation, Leukocytosis, Delayed femoral...	ORPHA:168621
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Incre...	OMIM:174050
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia	Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate...	OMIM:310490
Phosphoserine Phosphatase Deficiency	Postnatal growth retardation, Intrauterine growth retardation, Hyposerinemia	OMIM:614023
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbil...	OMIM:211600
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Galactose Mutarotase Deficiency	Abnormal circulating enzyme concentration or activity, Hepatomegaly, Cholestasis, Hypergalactosem...	ORPHA:570422
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala...	OMIM:605911
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating...	OMIM:616860
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	OMIM:617049
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Cholelithiasis, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cho...	OMIM:266200
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:617093
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin	ORPHA:2924
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyper...	OMIM:614702
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Osteoporosis, Flat acetabular ...	OMIM:184260
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Conjugated hyperbilirubin...	ORPHA:30391
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia	ORPHA:46532
Dubin-Johnson Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ...	ORPHA:234
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Conjugated hyperbilirubinemia...	OMIM:617156
Winchester Syndrome	Corneal opacity, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, General...	OMIM:277950
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly	ORPHA:294
Meckel Syndrome, Type 8	Anophthalmia, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Low-set ears, Ambigu...	OMIM:613885
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta...	ORPHA:53035
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetopr...	OMIM:251880
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hyperalaninemia, Hypoglycemia, Congestive heart failure, Bradycardia, Le...	OMIM:619048
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer flask deformity ...	OMIM:610539
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive	ORPHA:172
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Increased se...	OMIM:603358
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Corneal opacity, Reduced bone mineral density, Abnormal pelvic...	ORPHA:2370
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ...	ORPHA:69663
Glycogen Storage Disease Xii	Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Short stature, Elevated ...	OMIM:611881
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis	OMIM:235700
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Corneal opacity, Large for gestational age, Microcornea, Microphthalmia	ORPHA:2432
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Hypergalactosemia, F...	OMIM:230350
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Short stature, Hepatocellular car...	ORPHA:369
Femoral-Facial Syndrome	Short femur, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidne...	ORPHA:1988
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Harderoporphyria	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Prolonged neonatal jaun...	OMIM:618892
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Infantile Sialic Acid Storage Disease	Osteopenia, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly, ...	OMIM:269920
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul...	OMIM:610717
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Cholestatic liver disease	OMIM:602114
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Osteopetrosis, Autosomal Recessive 9	Papilledema, Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulati...	OMIM:620366
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Mild postnatal growth retardation, Reduced level of N-acetylglucosaminyltransferase...	OMIM:224120
Cln3 Disease	Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Mental deterioration, Depression, ...	ORPHA:228346
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Corneal opacity, Thrombocytopenia	ORPHA:1980
Peroxisome Biogenesis Disorder 3A (Zellweger)	Low-set ears, Epiphyseal stippling, Polycystic kidney dysplasia, Hepatomegaly	OMIM:614859
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc...	ORPHA:158057
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hy...	OMIM:306000
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ...	OMIM:613027
Mulibrey Nanism	Intrauterine growth retardation, Short stature, Cachexia, Hepatomegaly	ORPHA:2576
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypoglycemia, Cardiac arrest, Elevated circulating creatine kinase conce...	OMIM:212138
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, ...	ORPHA:1667
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ...	OMIM:147480
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Incr...	OMIM:616299
Spherocytosis, Type 1	Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia	OMIM:182900
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, Phocomeli...	ORPHA:3103
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ...	ORPHA:69665
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Os...	OMIM:610947
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hypoalbuminemia	OMIM:620357
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,...	OMIM:615993
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Diabetes mellitus, Impaired glucose tolerance, Optic atrophy, Depression, Type...	OMIM:614296
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Ventricular septal defect, Elevated circulating creati...	OMIM:618775
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Posteriorly rotated ears, Metaphyseal widening, Flexion contracture,...	OMIM:263210
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Microcoria, Anophthalmia, Iris coloboma	OMIM:616428
Distal Triplication 15Q	Abnormal external genitalia, Abnormality of the kidney, Corneal dystrophy, Craniosynostosis, Larg...	ORPHA:314588
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo...	OMIM:231100
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Failure to thrive, Cataract, Brushfield spots, Cryptorchidism, Metatarsus adductus,...	OMIM:214110
Fanconi-Bickel Syndrome	Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Postna...	OMIM:227810
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Impaired glucose tolerance, Tapered finger, Long fingers, Atrioventricular block, Glucose intoler...	OMIM:614407
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Glycogen Storage Disease Vii	Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c...	OMIM:232800
Bardet-Biedl Syndrome 10	Renal insufficiency, Obesity, Renal cyst, Polydactyly, Hypogonadism	OMIM:615987
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Cholestasis, Decreased circulating cortisol level, Obesity, Hyperbilirubinemia	OMIM:609734
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Ventricular tachyca...	OMIM:601005
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Hyperammonemi...	OMIM:615160
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Prolonged QT interval, Tachycardia, Atrial fibrillation, Lipodystrophy, Elevated circ...	OMIM:613327
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Fa...	OMIM:259720
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Trisomy 13	Cataract, Anophthalmia, Cryptorchidism, Sensorineural hearing impairment, Postaxial hand polydact...	ORPHA:3378
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humer...	ORPHA:2741
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Hyperbiliverdinemia	Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis	OMIM:614156
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay	ORPHA:79238
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Small for gestational age, Neonatal hyperbilirubinemia, Retinal degeneration	ORPHA:3363
Ravine Syndrome	Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Rhyns Syndrome	Osteopenia, Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnor...	ORPHA:140976
Mucolipidosis Type Iii	Craniofacial hyperostosis, Corneal opacity, Joint stiffness, Reduced bone mineral density, Abnorm...	ORPHA:577
Sialidosis Type 2	Hepatomegaly, Corneal opacity, Tremor, Splenomegaly, Flexion contracture, Osteoporosis, Nephropat...	ORPHA:87876
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Microphthalmia With Limb Anomalies	Anophthalmia, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot...	OMIM:206920
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Short stature, Obesity	ORPHA:329249
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,...	OMIM:300614
Corneal Dystrophy-Perceptive Deafness Syndrome	Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy	ORPHA:1490
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:613404
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Spherocytosis, Type 4	Splenomegaly, Jaundice, Hyperbilirubinemia	OMIM:612653
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Corneal opacity, Proteinuria, Stage...	OMIM:166300
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated...	OMIM:619685
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:615158
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia, Retinal degeneration	OMIM:617173
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyperbilirubinemia, In...	OMIM:615710
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition...	OMIM:303110
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia, Mildly elevated creatine kinase	OMIM:620265
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Anophthalmia, Sclerocornea, Proximal placement of thumb, Cryptorchid...	ORPHA:139471
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ...	OMIM:232400
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-...	OMIM:278000
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Idiopathic Congenital Hypothyroidism	Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Bradycardia, Umb...	ORPHA:95717
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Corneal opacity, Isosexual precocious puberty, Met...	ORPHA:2788
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:79333
Hereditary Elliptocytosis	Postnatal growth retardation, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaun...	ORPHA:288
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice	OMIM:185000
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Short stature, Growth delay, Hyperbilirubinemia, Decreased body we...	OMIM:614886
Mirizzi Syndrome	Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase ...	ORPHA:521219
Usher Syndrome Type 1	Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest...	ORPHA:231169
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly, Sensorineural hearing im...	ORPHA:290
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:614887
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Bilateral microphthalmos, Anophthalmia, Iris coloboma	OMIM:611638
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia	OMIM:141000
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration	OMIM:300752
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Eleva...	OMIM:614727
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly	ORPHA:158
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Tremor,...	ORPHA:713
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Necrotizing Enterocolitis	Shock, Hyponatremia, Small for gestational age, Leukocytosis, Abnormal heart morphology, Bradycar...	ORPHA:391673
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Mitochondrial Complex I Deficiency, Nuclear Type 13	Generalized dystonia, Cardiac arrest, Irritability, Bradycardia, Hypertrophic cardiomyopathy, Fai...	OMIM:618235
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231183
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short digit, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wideni...	OMIM:613091
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short attention span, Hypoglycemia, Small for gestational age, Insulin resistance, Osteoporosis, ...	ORPHA:73272
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Peroxisome Biogenesis Disorder 5A (Zellweger)	Renal cyst, Hepatomegaly, Hypospadias, Brushfield spots, Cryptorchidism, Hepatosplenomegaly, Epip...	OMIM:614866
Dehydrated Hereditary Stomatocytosis 2	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:616689
Bardet-Biedl Syndrome 4	Syndactyly, External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Obesity, Rena...	OMIM:615982
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Peripheral axonal neuropathy, Diabetes mellitus, Supraventricular arrhythmia, Optic atrophy, Card...	ORPHA:320360
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Abetalipoproteinemia	Osteopenia, Abnormality of retinal pigmentation, Reticulocytosis, Decreased HDL cholesterol conce...	ORPHA:14
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Splen...	OMIM:607616
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Hematuria, Microphtha...	ORPHA:1473
Spherocytosis, Type 2	Splenomegaly, Jaundice, Hyperbilirubinemia	OMIM:616649
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Micromeli...	OMIM:614091
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Meckel Syndrome, Type 11	Polydactyly, Polycystic kidney dysplasia	OMIM:615397
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Increased serum bile acid concentration during pr...	OMIM:614972
Alpha-Mannosidosis	Craniofacial hyperostosis, Bowing of the long bones, Cataract, Corneal opacity, Hepatomegaly, Spl...	ORPHA:61
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Orthostatic hypotension, Macrocytic anemia, Decreased circulatin...	ORPHA:199299
Maternal Uniparental Disomy Of Chromosome 4	Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ...	ORPHA:96180
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Hip dislocation, Hepatosplenomegaly, Low-set ears, Polycystic kidney dysplasia, Fai...	OMIM:608776
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level	OMIM:609016
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas...	ORPHA:98870
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Renal insufficiency, Cataract, Proteinuria, Foot joint contr...	ORPHA:90321
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Increased circulating lactate dehydrogenase concent...	OMIM:601775
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration	OMIM:614876
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia of the pancr...	ORPHA:2470
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Vesicoureteral reflux, Micropenis, Hepatomegaly, Hypospadias, Cryptorchidism, Postaxi...	OMIM:301056
Galactosialidosis	Corneal opacity, Hearing impairment	ORPHA:351
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb...	OMIM:208085
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogly...	ORPHA:324575
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Splenomegaly, Growth delay, Hyperuricemia, Increased hepatic glycoge...	OMIM:261750
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Postaxial polydactyly, Ulnar bowing, Preaxial polydactyly, 2-3 toe syn...	OMIM:617866
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens...	ORPHA:848
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro...	ORPHA:91547
Hemochromatosis, Type 4	Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev...	OMIM:606069
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Facial palsy, Recurrent fractures, Mandibular osteo...	ORPHA:53
Mirage Syndrome	Hyponatremia, Hypoglycemia, Rocker bottom foot, Radial club hand, Thrombocytopenia, Hyperkalemia,...	OMIM:617053
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Trisomy 17P	Hypoplasia of penis, Cataract, Urethral valve, Tapered finger, Urethral stenosis, Flexion contrac...	ORPHA:261290
Familial Thyroid Dyshormonogenesis	Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Bradycardia, Umb...	ORPHA:95716
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Hypospadias, Cryptorchidism, Flexion contracture, Developmental cataract, EEG ab...	OMIM:618815
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Hyperalaninemia, Bradycardia, Dystonia	OMIM:614654
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi...	OMIM:613471
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Retinal dystrophy, Ventricular septal defect, Cardiac arrest, Megaloblastic an...	ORPHA:49827
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Rh-Null, Regulator Type	Jaundice, Unconjugated hyperbilirubinemia	OMIM:268150
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, Bradycardia, Third degree atrioventricular block, Restricti...	OMIM:601419
Branchiootorenal Syndrome 1	Renal malrotation, Mixed hearing impairment, Congenital hip dislocation, Facial palsy, Unilateral...	OMIM:113650
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism	OMIM:615524
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Arrhythmia, Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Sagittal craniosynostosis, Pancreatic cysts, Splenomegaly, Developmenta...	OMIM:610199
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Hypocalcemia, Del...	ORPHA:94093
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatosplenomegaly, Hypocalcemia...	OMIM:612526
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Sensorineural...	ORPHA:52368
D-Glyceric Aciduria	Hypoglycemia, Optic nerve hypoplasia, Nonketotic hyperglycinemia, Opisthotonus, Bradycardia, Fail...	OMIM:220120
Hijazi-Reis Syndrome	Postnatal growth retardation, Hyperbilirubinemia	OMIM:301094
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul...	OMIM:603553
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Hypoglycemia, Progressive neurologic deteriorat...	OMIM:300438
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality	OMIM:617519
Galactosemia I	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:230400
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Campomelia, Cumming Type	Pancreatic cysts, Bowing of the long bones, Polysplenia, Polycystic kidney dysplasia	OMIM:211890
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Optic atrophy, Cardiomyop...	ORPHA:26792
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ...	OMIM:617021
Meckel Syndrome 13	Flexion contracture, Polycystic kidney dysplasia	OMIM:617562
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Tetanus	Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration, Tremor, Opisthotonus...	ORPHA:3299
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situ...	OMIM:249270
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Wilson Disease	Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis, Hand tremor, Hypoalbum...	OMIM:277900
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,...	ORPHA:186
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ...	OMIM:145001
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia...	OMIM:619879
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Dystonia	OMIM:616277
Rh Deficiency Syndrome	Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, H...	ORPHA:71275
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Peroxisome Biogenesis Disorder 6A (Zellweger)	Low-set ears, Epiphyseal stippling, Renal cyst, Hepatomegaly	OMIM:614870
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Ceroid Lipofuscinosis, Neuronal, 1	Psychomotor deterioration, Flexion contracture, Optic atrophy, Vacuolated lymphocytes, Depression...	OMIM:256730
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Cataract, Posteriorly rotated ears, L...	OMIM:608836
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Ceroid Lipofuscinosis, Neuronal, 3	Psychomotor deterioration, Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiom...	OMIM:204200
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Cranial nerve...	ORPHA:210110
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Trisomy 1Q	Multicystic kidney dysplasia, Anophthalmia, Small scrotum, Camptodactyly of finger, Arachnodactyl...	ORPHA:261344
Microphthalmia, Syndromic 5	Joint laxity, Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Crypto...	OMIM:610125
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ...	ORPHA:65682
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Hypospadias, Cryptorchidism, Osteoporosis, Osteolytic defects of the ph...	OMIM:102500
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ...	OMIM:618641
Methylcobalamin Deficiency Type Cble	Syndactyly, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Osteoporosis, Hyperhomocystinemia...	ORPHA:2169
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia, Attention deficit hyperactivity disorder	OMIM:617182
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizure...	ORPHA:276580
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Meckel Syndrome	Ureteral duplication, Anophthalmia, Sclerocornea, Asplenia, Microcornea, Urethral atresia, Access...	ORPHA:564
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia	OMIM:616276
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormality of the spleen, Abnormal finger morphology, Phocomelia, Hepatomegaly, Mu...	ORPHA:2538
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice	ORPHA:95715
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Diabetes mellitus, Depression, Cardiomyopathy, Dementia, Bradycardia, Arrhythmia, Sensory axonal ...	OMIM:609286
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Glutamine Deficiency, Congenital	Hypoglutaminemia, Micromelia, Flexion contracture, Hyperammonemia, Bradycardia, Camptodactyly	OMIM:610015
Walker-Warburg Syndrome	Hypoplasia of penis, Cataract, Corneal opacity, Anophthalmia, Posteriorly rotated ears, Cryptorch...	ORPHA:899
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ...	OMIM:609465
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas...	ORPHA:811
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Ureteral stenosis, Arachnodactyly, Abnormal thumb morphology, Cryptorc...	ORPHA:2719
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Microphthalmia, Anophthalmia, Cryptorchidism	OMIM:164180
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperpro...	OMIM:619064
Hereditary Spherocytosis	Hepatomegaly, Splenomegaly, Jaundice, Growth delay, Hyperbilirubinemia, Cholelithiasis	ORPHA:822
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Erythrokeratodermia Variabilis	Brachydactyly, Cataract, Corneal opacity, Tapered finger, Protruding ear, Weight loss, Abnormal t...	ORPHA:317
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Spinocerebellar atrophy, Optic atrophy, Cochlear degeneration, Hearing impairment	ORPHA:95433
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231226
Squalene Synthase Deficiency	Bicuspid aortic valve, Optic nerve hypoplasia, Failure to thrive in infancy, Increased circulatin...	OMIM:618156
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Microphthalmia, Iri...	ORPHA:77298
Graft Versus Host Disease	Tachycardia, Dupuytren contracture, Lipodystrophy, Fasciitis, Limited elbow movement, Limited sho...	ORPHA:39812
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Vesicoureteral reflux, Axial ...	OMIM:274000
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a...	OMIM:613490
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Gastrointestinal hemorrhage, Normocytic anemia, Progressive neurologic ...	ORPHA:247691
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe	ORPHA:411986
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure	OMIM:618549
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Decreased nerve conduction velocity, Leg dystonia, Congenital foot contracture...	ORPHA:565624
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ...	OMIM:263200
Abcd Syndrome	Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ...	OMIM:600501
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Pancytopenia, Femur fracture, Facial palsy, Craniosynostosis, Fai...	OMIM:259700
Wolfram-Like Syndrome	Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy, Depression, Glucose intolerance, ...	ORPHA:411590
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Failure to thrive, Ventricular septal defect, Tracheo...	OMIM:612561
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Failure to thrive, Elevated circulating creatine kinase c...	OMIM:500009
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalemia,...	OMIM:608885
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Abnormal retinal morphology, Aplasia/hypop...	ORPHA:40366
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, ...	ORPHA:281090
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circul...	ORPHA:276575
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Gout, Polycystic kidney dyspl...	OMIM:618061
Acrorenal-Mandibular Syndrome	Aplasia of the bladder, Hypoplasia of the ulna, Split hand, Bicornuate uterus, Split foot, Low-se...	OMIM:200980
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Hyperkalemia, ...	OMIM:610600
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u...	OMIM:617872
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hyperammonemia	ORPHA:35
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Hypochromic microcyti...	ORPHA:3240
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Beta-Thalassemia Major	Extramedullary hematopoiesis, Anemia of inadequate production, High-output congestive heart failu...	ORPHA:231214
Leber Hereditary Optic Neuropathy	Postural tremor, Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Retinal vascul...	ORPHA:104
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased c...	ORPHA:276556
Addison Disease	Normocytic anemia, Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, H...	ORPHA:85138
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Reduced bone mineral density, Long fibula, Abnormal metaphysis morphology,...	ORPHA:935
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp...	ORPHA:171876
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha...	ORPHA:2394
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Dystonia, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Cardiom...	ORPHA:79312
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Inguinal hernia, Optic atrophy, Bradycardia, Abnormal autonomic nervous system physiology, Joint ...	OMIM:614498
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
Mietens Syndrome	Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Metatarsus addu...	ORPHA:2557
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi...	OMIM:610202
Bachmann-Bupp Syndrome	Hypoglycemia, Large for gestational age, Attention deficit hyperactivity disorder, Hyperbilirubin...	OMIM:619075
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, H...	ORPHA:95409
Birk-Landau-Perez Syndrome	Dystonia, Failure to thrive in infancy, Optic atrophy, Hyperkalemia, Choreoathetosis, Hypertensio...	OMIM:617595
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Flexi...	ORPHA:682
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Hypercholesterolemia, Delayed proximal femoral epiphyseal ossification, Depres...	ORPHA:90674
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Hypospadias, Anophthalmia, Sclerocornea, Rhizomelia, Precocious puberty, 2-3 toe syndac...	OMIM:615877
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Carpenter Syndrome 1	External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Microcornea, Cond...	OMIM:201000
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, Facial palsy, Optic...	ORPHA:3152
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle...	ORPHA:705
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of...	ORPHA:231222
Alg12-Cdg	Proximal placement of thumb, Abnormal peripheral nervous system morphology, Recurrent hypoglycemi...	ORPHA:79324
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Increased total...	ORPHA:90037
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Cataract, Corneal opacity, Hypospadias, Failure to th...	ORPHA:912
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Metaphyseal sclero...	OMIM:260400
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556037
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Alpha-Mannosidosis, Adult Form	Osteopenia, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Mixed hearing impairment,...	ORPHA:309288
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Short stature	ORPHA:417
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Gout, Focal segmental glomerulosclerosis, Neutropenia, Nephro...	OMIM:617056
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556030
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Limitation of join...	ORPHA:93476
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Small for gestational age, Abnormal T cell morphology, Nephrotic syndrome, Mucopolys...	OMIM:215250
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Congenital Myopathy 22A, Classic	Hip contracture, Tricuspid regurgitation, Achilles tendon contracture, Osteoporosis, Bradycardia,...	OMIM:620351
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Intrauterine growth retardation, Failure to thrive, Hepatomegaly	OMIM:613861
Brachyolmia Type 1, Toledo Type	Broad tibial metaphyses, Precocious costochondral ossification, Increased urinary disaccharide ex...	OMIM:271630
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Splenomegaly, Jaundice, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decreased g...	OMIM:300908
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Corneal opacity, Metaphyseal widening, Squared iliac bones, Short long bone, Limb ...	OMIM:618961
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
15q26 overgrowth syndrome	Long toe, Renal agenesis, Camptodactyly of finger, Craniosynostosis, Abnormality of the kidney, A...	DECIPHER:81
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Tremor...	OMIM:608799
Autosomal Recessive Progressive External Ophthalmoplegia	Facial palsy, Abnormal retinal morphology, Elevated circulating creatine kinase concentration, Op...	ORPHA:254886
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Peripheral opacification of the cornea, Metaphyseal widening, Metatarsal osteolysis, ...	OMIM:259600
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Abnormal pinna morphology, Glutaric aciduria, Generalized aminoaciduria, Renal cort...	OMIM:231680
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Insulin-resistant diabetes mellitus, Optic atrophy,...	ORPHA:401768
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc...	ORPHA:99826
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Growth delay, Hypocalcemia, Ascites	ORPHA:100025
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia, Cryptorchidism, Flexion contracture, Developmental cataract, Conjunct...	ORPHA:90322
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice...	ORPHA:858
Lujo Hemorrhagic Fever	Shock, Resting tremor, Stiff neck, Confusion, Elevated circulating C-reactive protein concentrati...	ORPHA:319213
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Subacute Inflammatory Demyelinating Polyneuropathy	Limitation of movement at ankles, Decreased motor nerve conduction velocity, Decreased distal sen...	ORPHA:206594
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Sepsis In Premature Infants	Tachycardia, Small for gestational age, Elevated circulating C-reactive protein concentration, Th...	ORPHA:90051
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Confusion, Heart block, Elevated circulating creatinine concentration, Capillary lea...	ORPHA:542323
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Anophthalmia, Postaxial hand polydactyly,...	ORPHA:66625
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,...	OMIM:618782
Mpi-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hypoalb...	ORPHA:79319
Meckel Syndrome, Type 1	External genital hypoplasia, Asplenia, Ambiguous genitalia, female, Ambiguous genitalia, male, Ab...	OMIM:249000
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ...	OMIM:615745
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca...	ORPHA:439232
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Postaxial hand polydactyly, Optic atrophy, Stage 5 chronic k...	OMIM:243910
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemic seizures, Hypotens...	ORPHA:199296
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Tremor, Shortened PR int...	ORPHA:79102
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy, Osteoporosis, Joint hyperflexibility, Short distal phalanx of finger, Brachydactyly	ORPHA:2787
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, Accessory splee...	OMIM:268300
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97283
Juvenile Paget Disease	Abnormality of retinal pigmentation, Bowing of the long bones, Recurrent fractures, Cranial hyper...	ORPHA:2801
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Short stature, Steatorrhea, Exocrine pancreatic insufficiency	OMIM:618752
Immunodeficiency 48	Splenomegaly, Hepatomegaly, Failure to thrive	OMIM:269840
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly	OMIM:613977
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Abnormality of the uterus, Conductive hearing impairment, Vesicouretera...	ORPHA:567
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Delayed epiphyseal ossification, Abnormal epiphysis morphology, Bradyc...	ORPHA:226313
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia, Failure to thri...	OMIM:610768
Epidermal Nevus Syndrome	Osteopenia, Astigmatism, Polycystic kidney dysplasia	ORPHA:35125
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Trimethylaminuria	Tachycardia, Splenomegaly, Depression, Hypertension, Neutropenia, Anemia	OMIM:602079
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Retinal ...	OMIM:617052
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Tremor, Joint hyperflexibility, Hip dyspl...	ORPHA:3375
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Sheehan Syndrome	Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Hypoglycemia, Obesit...	ORPHA:91355
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Mucopolysaccharidosis, Type Ivb	Joint laxity, Hepatomegaly, Corneal opacity, Joint stiffness, Epiphyseal deformities of tubular b...	OMIM:253010
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	ORPHA:79230
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Cataract, Corneal opacity, Decreased nerve cond...	ORPHA:812
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbiliru...	OMIM:229600
Schimke Immunoosseous Dysplasia	Osteopenia, Renal insufficiency, Pancytopenia, Proteinuria, Small for gestational age, Bilateral ...	OMIM:242900
Gómez-López-Hernández Syndrome	Corneal opacity, Low-set ears	ORPHA:1532
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thum...	ORPHA:2091
Lcat Deficiency	Hemolytic anemia, Renal insufficiency, Corneal opacity, Proteinuria, Stage 5 chronic kidney disea...	ORPHA:650
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Abnormality of the liver, Mildly elevated creatine kinase, Decreased circulating ca...	ORPHA:254864
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Overweight, Sple...	ORPHA:90041
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Failure to thrive, Hyperammonemia	ORPHA:28
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Hyperkalemia, Hypertension, Glycosuria, Failure to thriv...	ORPHA:97362
Fryns Microphthalmia Syndrome	Microphthalmia, Macrotia, Anophthalmia	OMIM:600776
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Hepatomegaly, Cataract, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic...	OMIM:613730
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cholelithi...	ORPHA:846
Sanjad-Sakati Syndrome	Hypoparathyroidism, Low-set, posteriorly rotated ears, Hypoplasia of penis, Corneal opacity, Patc...	ORPHA:2323
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Aplasia/Hypoplasia of the earlobes, Deviation of...	ORPHA:1104
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ...	ORPHA:101016
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Decreased liver function, Elevated hepatic transaminase	OMIM:246900
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Retinal dystrophy, Elevated circulating phytanic acid concentration, Osteoporo...	OMIM:266510
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni...	OMIM:557000
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Corneal opacity, Rhizomelia, Metaphy...	ORPHA:85167
Propionic Acidemia	Pancytopenia, Dystonia, Hypoglycemia, Thrombocytopenia, Cerebellar hemorrhage, Osteoporosis, Hype...	OMIM:606054
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Corneal opacity, Small hand, Antecubital pterygium, Popliteal pt...	OMIM:619339
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Failure to thrive, Short stature	ORPHA:2089
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Bull's eye maculopathy, Choreoathetosis, Limb dystonia, Retinal degeneration, Intenti...	ORPHA:157850
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat...	ORPHA:79096
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension, F...	OMIM:177735
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact...	OMIM:620211
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis, Cardiomyopat...	ORPHA:27
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Failure to thrive, Wide capital femoral epiphyses, Corneal opacity, Proteinuria, Sma...	ORPHA:1830
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri...	OMIM:300855
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Wolman Disease	Hepatomegaly, Cachexia, Splenomegaly, Growth delay, Ascites, Steatorrhea, Hepatic failure	ORPHA:75233
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive	OMIM:614736
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:300635
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E...	ORPHA:90044
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Ventricular septal defect, Rocker bottom foot,...	ORPHA:163979
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Hydrolethalus	Low-set, posteriorly rotated ears, Anophthalmia, Micromelia, Cryptorchidism, Postaxial hand polyd...	ORPHA:2189
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Papilledema, Cortical sclerosis, Craniofacial osteosclerosis, Optic at...	OMIM:122860
Majeed Syndrome	Glomerulopathy, Increased bone mineral density, Osteomyelitis, Proteinuria, Failure to thrive, Ca...	ORPHA:77297
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	ORPHA:90003
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly	OMIM:606445
Multiple Sulfatase Deficiency	Broad hallux phalanx, Hepatomegaly, Cataract, Corneal opacity, Joint stiffness, Splenomegaly, Sen...	ORPHA:585
Stiff-Person Syndrome	Exaggerated startle response, Tachycardia, Diabetes mellitus, Opisthotonus, Depression, Hypertens...	OMIM:184850
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Hypophosphatemic Rickets, X-Linked Recessive	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow...	OMIM:300554
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Seckel Syndrome 10	Ventricular hypertrophy, Retinal detachment, Hypertriglyceridemia, Diabetes mellitus, Elevated he...	OMIM:617253
Lathosterolosis	Toe syndactyly, Increased mean platelet volume, Acanthocytosis, Postaxial hand polydactyly, Schis...	OMIM:607330
Mucolipidosis Iv	Optic atrophy, Corneal opacity, Opacification of the corneal stroma, Dystonia	OMIM:252650
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Splenomegaly, Jaundice, Decreased glucosephosphate isomerase level, Cholecyst...	OMIM:613470
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney dis...	OMIM:613095
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Optic atrophy, Perimembranous ventricular septal defect, Hyp...	OMIM:606812
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Increased bone mineral density, Reticulocytosis, Facial palsy, Recurrent fract...	OMIM:611490
Galactokinase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Small for gestational age, H...	ORPHA:79237
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Short stature, ...	OMIM:242150
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C...	OMIM:602390
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Opt...	OMIM:602271
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Renal cys...	OMIM:210710
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Card...	OMIM:618278
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Pancreatic cysts, Asplenia, Splenomegaly,...	OMIM:208540
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Corneal opacity, Unilateral renal agenesis, Hip dislocation, Developmen...	OMIM:616603
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:42
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Failure to thrive	OMIM:203400
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Inguinal hernia, Pancytopenia, Hypoglycemia, Small for gestational age,...	OMIM:613658
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Microphthalmia, Syndromic 9	Renal malrotation, Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Renal hypoplasia, Hors...	OMIM:601186
Phelan-Mcdermid Syndrome	Abnormality of the kidney, 2-3 toe syndactyly, Protruding ear, Large hands, Clinodactyly of the 5...	OMIM:606232
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Pericarditis, Failure to thrive, Pericardial effusion, Tremor, Abnormal subcutaneous ...	OMIM:212065
Mckusick-Kaufman Syndrome	Syndactyly, Hydroureter, Aganglionic megacolon, Congenital hip dislocation, Mesoaxial hand polyda...	OMIM:236700
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Osteopetrosis, Failure to thrive, An...	OMIM:615085
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Growth delay, Hepatomegaly, Elevated circulating creatine kinase concentration, Delayed puberty	OMIM:615704
Distal Deletion 12Q	Ectopic kidney, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Clinodactyly of the 5...	ORPHA:96149
Sarcosinemia	Optic atrophy, Hypersarcosinemia, Pulmonic stenosis, Emotional lability, Hypertrophic cardiomyopathy	ORPHA:3129
Cockayne Syndrome B	Tremor, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypoplasia of the iris, Square...	OMIM:133540
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Dystonia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis, Neutropenia, Anemia	ORPHA:289916
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Abnormal pinna morphology, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric acid...	ORPHA:26791
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Elevated circulatin...	OMIM:613489
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Finger syndactyly, Anophthalmia, Small scrotum, Anterior pituitary hypoplasi...	ORPHA:264200
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Abno...	ORPHA:90673
Heme Oxygenase 1 Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614034
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef...	ORPHA:99827
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Hypotension, Failure to thrive	OMIM:264350
Floating-Harbor Syndrome	Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Conductive hearing impairment, Abnormal ant...	ORPHA:2044
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Mosaic Trisomy 9	Hypoplasia of penis, Corneal opacity, Camptodactyly of finger, Micromelia, Rocker bottom foot, As...	ORPHA:99776
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra...	OMIM:300106
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:620125
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip...	OMIM:208500
Gm1 Gangliosidosis	Failure to thrive, Generalized dystonia, Corneal opacity, Camptodactyly of finger, Joint stiffnes...	ORPHA:354
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Low-set, posteriorly rotated ears, Hypospadias, Microcytic anemia, Cryptorchidism, Short toe, Fle...	ORPHA:98791
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow...	OMIM:300009
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Joint laxity, Peripheral axonal neuropathy, Ventricular septa...	OMIM:615673
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micropenis, Cryptorchidism, Humeroradial synosto...	OMIM:134780
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Abnormal autonomic ...	OMIM:598500
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia, Small for gestational age, Progressive neurologic deterioration, Optic atrophy, Hyp...	OMIM:618253
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume...	OMIM:611590
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e...	OMIM:261740
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Abnormal autonomic ne...	ORPHA:330001
Hemochromatosis, Type 1	Diabetes mellitus, Cardiomegaly, Congestive heart failure, Splenomegaly, Increased circulating fe...	OMIM:235200
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Cataract, Hypospadias, Anophthalmia, Sclerocornea, Optic n...	OMIM:206900
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Optic atrophy,...	ORPHA:66634
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Arthrogryposis, Distal, Type 2A	Knee flexion contracture, Wrist flexion contracture, Ulnar deviation of the hand or of fingers of...	OMIM:193700
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529799
Lysosomal Acid Lipase Deficiency	Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Hypercholesterolemia, Bone-marrow ...	ORPHA:275761
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hyperphosphaturia, Corneal opacity, Recurrent fractures, Precocious puberty, Abnormal...	OMIM:163200
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Gaucher Disease, Type Iii	Hepatomegaly, Short stature, Splenomegaly, Decreased beta-glucocerebrosidase level, Decreased bod...	OMIM:231000
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia	ORPHA:37748
Hurler Syndrome	Hepatomegaly, Corneal opacity, Hypoplasia of the femoral head, Joint stiffness, Heparan sulfate e...	OMIM:607014
Immunodeficiency 54	Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Intrauterine growth reta...	OMIM:609981
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Hyperkalemia, Hypoglyce...	ORPHA:361
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypoglycemia, Optic nerve hypoplasia, Overweight, Delayed proximal femoral epiphyseal ossificatio...	ORPHA:226307
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia	ORPHA:309246
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:212140
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein...	ORPHA:423479
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In...	ORPHA:210136
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Diabetes mellitus, Optic atrophy, Cardiomyopathy, Cognitive impairment	ORPHA:1177
Harel-Yoon Syndrome	Corneal opacity, Optic atrophy, Developmental cataract, Hip dysplasia, Dystonia	OMIM:617183
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Limited knee extension, W...	ORPHA:239
Stickler Syndrome Type 2	Sensorineural hearing impairment, Cataract, Corneal opacity	ORPHA:90654
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens...	ORPHA:50815
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Corneal opacity, Renal hypoplasia/aplasia, Aplasia/Hypoplasia ...	ORPHA:1234
Mucopolysaccharidosis Type 4	Bowing of the long bones, Corneal opacity, Coxa valga, Reduced bone mineral density, Genu valgum,...	ORPHA:582
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level	OMIM:615238
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Progressive neurologic deterioration, Reactive hypoglycemia, Tremor, Hyperinsulinemi...	ORPHA:276608
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving bones of the up...	ORPHA:371428
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit...	ORPHA:100086
Cinca Syndrome	Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, Retrobulbar op...	ORPHA:1451
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment...	OMIM:109120
Leber Congenital Amaurosis 1	Growth delay, Hepatomegaly, Hyperthreoninemia	OMIM:204000
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Failure to thrive, Retino...	ORPHA:71
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia, Optic atrophy, Athetosis, Irritability, Hypertrophic cardiomyopathy	OMIM:618241
Distal Xq28 Microduplication Syndrome	Epistaxis, Metatarsus adductus, Depression, Attention deficit hyperactivity disorder, Clinodactyl...	ORPHA:293939
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Vacterl With Hydrocephalus	Anophthalmia, Renal agenesis, Microtia, third degree, Renal hypoplasia/aplasia, Cryptorchidism, H...	ORPHA:3412
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Morquio Syndrome C	Corneal opacity	OMIM:252300
Scheie Syndrome	Hepatomegaly, Corneal opacity, Joint stiffness, Splenomegaly, Sensorineural hearing impairment, L...	ORPHA:93474
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st...	OMIM:615438
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:86893
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia	ORPHA:156
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Hip dysplasia, ...	ORPHA:496790
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ...	ORPHA:90038
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response	ORPHA:3198
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Hepatospleno...	ORPHA:367
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Tremor, Optic atrophy, Limited mob...	OMIM:222300
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ...	OMIM:618963
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Scler...	ORPHA:284160
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Optic atrophy, Protruding ear, Microcornea, Astigm...	OMIM:152950
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Metaphyse...	ORPHA:536471
Pseudohypoaldosteronism Type 2	Hypertension, Hyperkalemia, Abnormal dental enamel morphology	ORPHA:757
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Failure to thrive, H...	ORPHA:3008
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransf...	ORPHA:2088
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:300842
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Cirrhosis, Intr...	OMIM:614602
Mosaic Trisomy 1	Renal cyst, Finger clinodactyly, Micropenis, Absent distal interphalangeal creases, Long toe, Ara...	ORPHA:1692
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Proximal placement of thumb, Absent thumb, Cryptorchidism, Short thu...	OMIM:613390
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Splenomegaly, Jaundice, Steatorrhea, Failure to thrive, Exocrine pancreatic insuffi...	OMIM:612714
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrauterine growt...	OMIM:610333
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu...	ORPHA:79277
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metata...	OMIM:305600
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Limb joint contracture, Bradycardia, Opisthotonus	OMIM:619814
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Unilateral cryptorchidism, Persistence of hemoglobin F, Increased mean corpusc...	OMIM:300946
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi...	ORPHA:97214
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hepat...	OMIM:602579
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Hereditary Cryohydrocytosis With Reduced Stomatin	Short stature, Conjugated hyperbilirubinemia, Postnatal growth retardation, Jaundice, Hepatosplen...	ORPHA:168577
Focal Dermal Hypoplasia	Hypoplasia of the iris, Iris coloboma, Finger syndactyly, Multicystic kidney dysplasia, Split han...	ORPHA:2092
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Tachycardia, Tremor, Retrobulbar optic neuritis, Obesity, Memory impairment, H...	OMIM:619737
Joubert Syndrome 18	Joint laxity, Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Horseshoe kidney, ...	OMIM:614815
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypovolemia, Osteoporosis, Hyperkalemia, Redu...	ORPHA:168558
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Sensorineural hearing impairme...	ORPHA:3163
Spinocerebellar Ataxia With Epilepsy	Progressive neurologic deterioration, Tremor, Optic atrophy, Depression, Dystonia, Hyperalaninemi...	ORPHA:254881
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Progressive neurologic deterioration, Large for gestational age, Tremor, Abnormal ci...	ORPHA:263455
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Cataract, Multicystic kidney dysplasia, Septo-optic dysplasia, Cry...	ORPHA:3301
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor...	OMIM:263520
Charge Syndrome	Bifid scrotum, Anophthalmia, Abnormal tibia morphology, Hypoplasia of the semicircular canal, Abn...	ORPHA:138
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Confusion, Hematemesis, Thrombocytopenia, Leukocytosis, Elevated c...	ORPHA:340
Liver Disease, Severe Congenital	Cardiomegaly, Abnormal left ventricular function, Leukopenia, Lymphocytosis, Hypocalcemia, Elevat...	OMIM:619991
Farber Disease	Corneal opacity, Thrombocytopenia, Short toe, Flexion contracture, Osteoporosis, Hepatosplenomega...	ORPHA:333
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing...	OMIM:619260
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Osteomalacia, Hypocitraturia, Sensorineur...	ORPHA:18
Cinca Syndrome	Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H...	OMIM:607115
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypovolemia, Osteoporosis, Hyperkalemia, Redu...	ORPHA:289548
Microphthalmia, Syndromic 6	Anophthalmia, Small scrotum, Sclerocornea, Uplifted earlobe, Protruding ear, Microcornea, Clinoda...	OMIM:607932
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Cholestasis	OMIM:105200
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hypouricemia, Short stature, Large for gestational a...	OMIM:616026
Cystinosis	Renal insufficiency, Corneal opacity, Proteinuria, Rickets, Renal tubular dysfunction, Aminoacidu...	ORPHA:213
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia, Failure to thrive	OMIM:614739
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin lev...	ORPHA:90791
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, De...	ORPHA:79282
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Diaphanospondylodysostosis	Narrow pelvis bone, Abnormal vertebral segmentation and fusion, Multiple renal cysts, Absent or m...	ORPHA:66637
Metachromatic Leukodystrophy	Gallbladder dysfunction, Reduced leukocyte arylsulfatase A activity, Cholecystitis	OMIM:250100
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Pericarditis, Portal hypertension, Pericardial effusion, Osteoporosis, Choriore...	OMIM:619487
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:615486
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Radioulnar synostosis, Multicystic kidney dysplasia, Protruding ear	ORPHA:3270
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia	ORPHA:99845
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Thrombocytopenia, Bradycardia, Cerebral hemorrhage	OMIM:617397
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Hsd10 Disease, Infantile Type	Hypoglycemia, Cardiomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Dystonia, Hypertrophi...	ORPHA:391428
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Abnormality of the kidney, Opti...	ORPHA:93400
Mucopolysaccharidosis Type 7	Corneal opacity, Joint stiffness, Metatarsus adductus, Splenomegaly, Epiphyseal stippling, Mucopo...	ORPHA:584
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Proteinuria, Failure to thrive in infancy, External ear malfor...	ORPHA:2162
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia affecting the eye, Hypogonadotropic hypogonadism, Opacification of the corneal...	ORPHA:1643
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Oculomaxillofacial Dysostosis	Corneal opacity, Camptodactyly of finger, Abnormality of the humerus, Adducted thumb, Aplasia/Hyp...	ORPHA:1794
Argininemia	Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Hyperammonemia, Cholestasis, ...	OMIM:207800
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay	OMIM:615631
Alg8-Cdg	Hyponatremia, Abnormality of subcutaneous fat tissue, Small for gestational age, Thrombocytopenia...	ORPHA:79325
Meckel Syndrome, Type 9	Ambiguous genitalia, Multicystic kidney dysplasia, Limb undergrowth, Talipes equinovarus	OMIM:614209
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Ulnar deviated club hands, Fibular hypoplasia, Lateral humeral condyle...	OMIM:164900
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Failure to thrive, Postaxial polydactyly, Sensorineural hearing impairment,...	OMIM:618460
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Short stature	ORPHA:2204
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	ORPHA:2334
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Joint stiffness, Cryptorchidism, Protruding ear, Multiple renal cysts, ...	ORPHA:1166
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelp...	ORPHA:2237
Campomelia, Cumming Type	Hepatomegaly, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Bowing of the long bon...	ORPHA:1318
Papillorenal Syndrome	Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxati...	OMIM:120330
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Poems Syndrome	Sclerosis of hand bone, Papilledema, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Th...	ORPHA:2905
Lowry-Maclean Syndrome	Osteopenia, Corneal opacity, Hypospadias, Craniosynostosis, Bilateral cryptorchidism, Development...	ORPHA:2409
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypoproteinemia, Tachycardia, Ventricular septal defect, Elevated circulat...	ORPHA:26793
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Short th...	OMIM:612562
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Failure to thrive, ...	ORPHA:293978
Degcags Syndrome	Osteopenia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Patent foramen ovale, Synda...	OMIM:619488
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Decreased corneal thic...	OMIM:614170
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hand tremor	OMIM:609153
3Mc Syndrome 3	Bifid scrotum, Corneal opacity, Abnormal pinna morphology, Cryptorchidism, Clinodactyly, Preaxial...	OMIM:248340
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79332
Infantile Refsum Disease	Failure to thrive, Facial palsy, Optic atrophy, Elevated circulating phytanic acid concentration,...	ORPHA:772
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Low plasma citrulline, Elevated circulating alanine aminotransferase concentration,...	OMIM:261680
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,...	ORPHA:157
3Q29 Microduplication Syndrome	Cataract, Toe syndactyly, Sandal gap, Craniosynostosis, Sclerocornea, Camptodactyly of toe, Obesi...	ORPHA:251038
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Renal Tubular Dysgenesis	Joint hyperflexibility, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysg...	ORPHA:3033
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Thrombocytopenia 5	Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N...	OMIM:616216
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor...	ORPHA:447
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemi...	ORPHA:466650
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Elevated circulating acylcarnitine concentration, Abnormal circulating creatin...	OMIM:615838
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Tremor, Optic atrophy, Cardiomyopathy, Athetosis, Dystonia, Rod-cone dystrophy, Thr...	OMIM:617710
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Abnormal femur morpholo...	ORPHA:324
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Protruding ...	ORPHA:534
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Nephronophthisis 2	Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Hypertension...	OMIM:602088
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Brachydactyly, Corneal opacity, Recurrent fractures, Sensorineural hearing imp...	OMIM:601812
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Mosaic Trisomy 8	Decreased testicular size, Corneal opacity, Camptodactyly of finger, Abnormal pinna morphology, C...	ORPHA:96061
Malignant Hyperthermia Of Anesthesia	High-output congestive heart failure, Cardiomyocyte mitochondrial proliferation, Ventricular tach...	ORPHA:423
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati...	OMIM:614872
Cadds	Elevated hepatic transaminase, Cholangitis, Cholestasis, Increased circulating very long-chain fa...	ORPHA:369942
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat...	OMIM:253800
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Coloboma, Chorioretinal coloboma, Decreased body weight, Iris coloboma, In...	OMIM:619475
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri...	OMIM:246700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu...	ORPHA:228308
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia, Cardiac arrest, Elevated circulating creatine kinase concentration, Elevated circul...	OMIM:616878
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Corneal opacity, Proteinuria, Micromelia, Ulnar bowing, Hematuria, Aplasia/Hypopla...	ORPHA:1765
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Tachycardia, Abnormal heart morphology, Depression, Pigmentary retinopathy, De...	ORPHA:79264
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Polyuria, Mesoaxial hand polydactyly, Postaxial h...	OMIM:615994
Kenny-Caffey Syndrome, Type 2	Papilledema, Increased bone mineral density, Transient hypophosphatemia, Small for gestational ag...	OMIM:127000
Cornelia De Lange Syndrome 1	Micromelia, Ectopic kidney, Proximal placement of thumb, Renal cyst, Microcornea, Conductive hear...	OMIM:122470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia, Cataract, Corneal opacity	OMIM:613153
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney	OMIM:615285
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra...	OMIM:609015
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Corneal opacity, Unilateral renal agenesis, Craniosynostosis, Developmental glaucoma, Aniridia	ORPHA:1064
Syndromic Diarrhea	Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Renal hypo...	ORPHA:84064
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, 2-3 toe syndactyly, Ureteral agenesis, Cutaneous syndactyly, Talipe...	OMIM:236500
Verheij Syndrome	Joint laxity, Vertebral fusion, Renal agenesis, Optic nerve hypoplasia, Small for gestational age...	OMIM:615583
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Cholestasis, Hypo...	OMIM:608104
Corneal Dystrophy And Perceptive Deafness	Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, Ch...	OMIM:194380
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Limited hip extension, Flexion contracture, Retinal hemor...	OMIM:614653
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Large for gestational age, Os...	OMIM:615398
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Cranial hyperostosis, Imbalan...	ORPHA:330015
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Chronic pancrea...	ORPHA:98908
Muckle-Wells Syndrome	Renal insufficiency, Leukocytosis, Clubbing of fingers, Conjunctivitis, Renal amyloidosis, Progre...	OMIM:191900
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Cerebrooculonasal Syndrome	Anophthalmia, Posteriorly rotated ears, Optic nerve hypoplasia, Craniosynostosis, Postaxial polyd...	OMIM:605627
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,...	OMIM:214800
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Retinal telangiectasia, Tremor, Thrombocytopenia, Metaphyse...	OMIM:612199
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:614576
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Bohring-Opitz Syndrome	Retinal atrophy, Cardiomegaly, Limitation of joint mobility, Optic atrophy, Bilateral wrist flexi...	ORPHA:97297
Glossopharyngeal Neuralgia	Cranial nerve compression, Schwannoma, Jaw claudication, Depression, Weight loss, Abnormal glosso...	ORPHA:221098
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Confusion, Congesti...	ORPHA:31826
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Anencephaly 2	Anophthalmia	OMIM:619452
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, External genital hypoplasia, Tapered finger, Cryptorchidism, Short fin...	ORPHA:1867
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hepatomegaly	OMIM:266150
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged...	ORPHA:3404
Mitochondrial Complex I Deficiency, Nuclear Type 37	Inguinal hernia, Opisthotonus, Bradycardia, Pulmonary arterial hypertension, Failure to thrive	OMIM:619272
Pseudohypoaldosteronism, Type Iia	Hypertension, Hyperkalemia	OMIM:145260
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Short metatarsal, Renal cyst, Nephronophthisis, Clinodactyly of...	OMIM:266920
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, ...	ORPHA:845
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failu...	OMIM:238970
Alpha-Mannosidosis, Infantile Form	Osteopenia, Oligosacchariduria, Cortical thickening of long bone diaphyses, Hypoplastic inferior ...	ORPHA:309282
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal de...	OMIM:619534
Orofaciodigital Syndrome I	Syndactyly, Brachydactyly, Proteinuria, Pancreatic cysts, Ovarian cyst, Short 2nd toe, Polydactyl...	OMIM:311200
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Hereditary Methemoglobinemia	Small for gestational age, Athetosis, Methemoglobinemia, Limb dystonia	ORPHA:621
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele...	ORPHA:100085
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Renal cyst	OMIM:109130
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati...	OMIM:619355
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s...	OMIM:616959
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ...	OMIM:133780
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Jaundice, Acute hepatic failure, Hyperammonemia	OMIM:616483
Juvenile Sialidosis Type 2	Hepatomegaly, Cataract, Corneal opacity, Abnormality of the kidney, Optic atrophy, Hepatosplenome...	ORPHA:93399
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Microphthalmia, Syndromic 2	Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Co...	OMIM:300166
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol...	ORPHA:990
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Camptodactyly of finger, Corneal dystrophy, Cryptorchidism, Ulnar deviation of fing...	ORPHA:1101
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple...	ORPHA:98850
Gitelman Syndrome	Maternal diabetes, Iron deficiency anemia, Glucose intolerance, Hypocalcemia, Prominent U wave, A...	ORPHA:358
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:613151
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Ambiguous genitalia, Abnormality of the ...	ORPHA:847
Autosomal Recessive Cutis Laxa Type 2A	Congenital hip dislocation, Corneal opacity, Increased susceptibility to fractures, Athetosis, Ab...	ORPHA:357058
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Thrombocytopenia, Flexion contracture, Optic atrophy, Splenomegaly, Met...	OMIM:617303
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Rhizomelia, Short stature, Cholangitis, Splenomegaly...	OMIM:613610
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteo...	OMIM:612840
Acquired Methemoglobinemia	Tachycardia, Confusion, Syncope, Palpitations, Arrhythmia, Methemoglobinemia	ORPHA:464453
Andersen Cardiodysrhythmic Periodic Paralysis	Short metatarsal, Short palm, Prominent U wave, Clinodactyly of the 5th finger, Short phalanx of ...	OMIM:170390
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre...	ORPHA:464329
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Potocki-Lupski Syndrome	Small for gestational age, Hypocholesterolemia, Atrial septal defect, Failure to thrive, Patent f...	OMIM:610883
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Short stature, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure	OMIM:615630
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Corneal opacity, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly,...	OMIM:253220
Bardet-Biedl Syndrome 6	Syndactyly, Hypospadias, External genital hypoplasia, Postaxial polydactyly, Obesity, Renal cyst,...	OMIM:605231
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Cockayne Syndrome A	Tremor, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing,...	OMIM:216400
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, Dilated cardiomyo...	ORPHA:261250
Niemann-Pick Disease, Type A	Hepatomegaly, Failure to thrive, Short stature, Elevated circulating aspartate aminotransferase c...	OMIM:257200
Autosomal Recessive Polycystic Kidney Disease	Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Biliary hyperplasia, H...	ORPHA:731
Axial Spondylometaphyseal Dysplasia	Osteopenia, Retinal dystrophy, Peripheral retinal degeneration, Iliac crest serration, Abnormal m...	ORPHA:168549
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia	OMIM:608600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Facial palsy, Elevated circulating creatine kinase concentration, Optic atrophy, Mitral valve pro...	OMIM:258450
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Increased circulating renin lev...	ORPHA:427
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric...	OMIM:616812
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:66661
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ...	OMIM:614921
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Diabetes mellitus, Myocarditis, Leukocytosis, Thrombocytopenia, H...	ORPHA:544482
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss, Hypoalbuminemia	ORPHA:507
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Posteriorly rotated ears, Small hand, Talipes equinovarus, Camptoda...	OMIM:619980
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Optic Atrophy 11	Optic nerve hypoplasia, Splenomegaly, Optic atrophy, Athetosis, Facial diplegia, Bilateral talipe...	OMIM:617302
Gaucher Disease	Osteopenia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Corneal opacity, Recurre...	ORPHA:355
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Cardiomyopathy, Leuk...	OMIM:251000
Joubert Syndrome 39	Overweight, Postaxial polydactyly, Joint contracture of the 5th finger, Polycystic kidney dysplasia	OMIM:619562
Familial Dysautonomia	Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Corneal opacity, Recurrent fracture...	ORPHA:1764
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Anophthalmia, Cutaneous finger syndactyly, Conductive hearing im...	OMIM:219000
Diamond-Blackfan Anemia	Pure red cell aplasia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutropenia, Elevated ...	ORPHA:124
Mu-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:100024
Yellow Fever	Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supraventricular arrhyth...	ORPHA:99829
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper...	OMIM:619170
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li...	OMIM:147750
Childhood-Onset Spasticity With Hyperglycinemia	Short attention span, Optic atrophy, Nonketotic hyperglycinemia, Irritability, Cognitive impairme...	ORPHA:401866
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Hypoglycemia, Elevated circulating creatine kinase concentra...	ORPHA:480864
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor...	ORPHA:1834
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Cataract, Corneal opacity, Vagin...	ORPHA:1052
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Cryptorchidism, Hypogon...	ORPHA:2250
Say Syndrome	Ulnar deviation of the 3rd finger, Tapered finger, Proximal renal tubular acidosis, Macrotia, Cys...	OMIM:181180
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Renal ...	OMIM:146510
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing...	OMIM:610706
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular ci...	ORPHA:98907
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Protruding ear, Clinodact...	ORPHA:464306
Mucopolysaccharidosis Type 3	Cardiomegaly, Flexion contracture, Reduced bone mineral density, Thickened helices, Conductive he...	ORPHA:581
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Corneal opacity, Aplasia/Hypoplasia of the distal ...	ORPHA:1647
Harrod Syndrome	Multicystic kidney dysplasia, Cataract, Hypospadias, Arachnodactyly, Cryptorchidism, Protruding e...	ORPHA:2115
Griscelli Syndrome Type 2	Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice	ORPHA:79477
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Crouzon Syndrome	Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment	ORPHA:207
Meckel Syndrome, Type 5	Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Bil...	OMIM:611561
Chime Syndrome	Corneal opacity, Abnormality of the kidney, Aplastic clavicle, Aplasia/Hypoplasia of the phalange...	ORPHA:3474
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Thrombocytopenia, Hyperinsulinemia, Supravalvar pulmonar...	OMIM:620185
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micromelia, Aplastic clavicle, Postaxial polydactyly, Preaxial polydactyly, Low-set ears, Polycys...	OMIM:616546
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Dilated cardiomyopathy, Osteoporosis, Abnormal blood ion concentra...	ORPHA:79404
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Pre...	OMIM:243605
Citrullinemia, Classic	Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat...	OMIM:215700
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Intrauterine growth retardation, Failure to thrive, Short stature, Hepatomegaly	ORPHA:50812
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia	OMIM:613986
Norrie Disease	Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Leukocoria, Hypoplasi...	OMIM:310600
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Impaired myocardial contractility, Episodic hypokalemia, Mildly eleva...	ORPHA:681
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Abnormal pinna morphology, Hypospadias, Postaxial polydactyly, Posta...	OMIM:614175
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu...	OMIM:300972
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Cataract, Toe syndactyly, Postaxial hand polydactyly, Anisopoi...	ORPHA:46059
Marinesco-Sjögren Syndrome	Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morp...	ORPHA:559
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn...	ORPHA:101330
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Cataract, Renal cyst, Opisthotonus, Nephrocalcinosis, Choreoathetosis, 3-Met...	ORPHA:445038
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Clubbing, Hematochezia, Clubbing of fingers, Hypokalemia, Hypocalcemia, Hypomagnesemia,...	OMIM:175500
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Camptodactyly of finger, Joint stiffness, Heparan sulfate excretio...	OMIM:607015
Mogs-Cdg	Absent brainstem auditory responses, Hepatomegaly, External genital hypoplasia, Cardiomegaly, Sen...	ORPHA:79330
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Failure to thrive, Anophthalmia, Corneal opacity, Hypospadias, Scleroc...	ORPHA:2556
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Acth Deficiency, Isolated	Jaundice, Decreased circulating cortisol level, Cholestasis	OMIM:201400
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Isolated Atp Synthase Deficiency	Dilated cardiomyopathy, Optic atrophy, Hyperammonemia, Arrhythmia, Dystonia, Hyperalaninemia, Hyp...	ORPHA:254913
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia, Diabetes mellitus, Morning glory anomaly, Optic atrophy, Dementia, Cognitive i...	ORPHA:98673
Proximal Spinal Muscular Atrophy	Multiple joint contractures, Flexion contracture, Elbow flexion contracture, Hip dislocation, Kne...	ORPHA:70
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test...	ORPHA:189427
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Sclerocornea, 2-3 toe cutaneous syndactyly, Knee flexion contracture, P...	OMIM:600920
Osteootohepatoenteric Syndrome	Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Reduced bone mineral de...	OMIM:619377
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Hypertension, Hypokalemia, Hypotension, Anemia	OMIM:611489
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Fryns Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Corneal opacity, Hypospadias, Ag...	ORPHA:2059
Genitopalatocardiac Syndrome	Low-set ears, Gonadal dysgenesis, male, Hypospadias, Renal cyst	OMIM:231060
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating alanine a...	OMIM:615381
Tyrosinemia, Type I	Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to ...	OMIM:276700
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Short metacarpal, Bull's eye ma...	OMIM:216550
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Postaxial polydactyly, Cryptorchidism, Short tibia, Squared iliac bones, Preaxial pol...	OMIM:616300
Adrenocortical Carcinoma	Diabetes mellitus, Paradoxical increased cortisol secretion on dexamethasone suppression test, In...	ORPHA:1501
Wagro Syndrome	Decreased testicular size, Cataract, Corneal opacity, Proteinuria, Obesity, Low-set ears, Aniridi...	OMIM:612469
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Craniosynostosis, Cryptorchidism, Metaphyseal chondrodysplasia, ...	ORPHA:166035
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Osteogenesis Imperfecta	Osteopenia, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Abnormal ...	ORPHA:666
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypoparathyroidism, Craniosynostosis, Precocious puberty, Hypercalciuria, Renal cyst,...	ORPHA:369837
Blue Diaper Syndrome	Elevated hepatic transaminase, Increased body weight, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Pseudohypoaldosteronism, Type Iic	Hypertension, Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Coach Syndrome 1	Optic disc pallor, Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullar...	OMIM:216360
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Failure to thrive, Corneal opacity, Hypospadias, Ankle flexion contracture, Un...	ORPHA:464311
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Joint stiffness, Splenomegaly, Genu valgum, Mucopolysacchariduria, Opacific...	ORPHA:583
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Ventricular septal defect, Impaired glucose tolerance, Insul...	ORPHA:769
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
De Barsy Syndrome	Osteopenia, Cataract, Corneal opacity, Congenital hip dislocation, Cryptorchidism, Generalized jo...	ORPHA:2962
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly, Renal cyst	OMIM:614970
Joubert Syndrome 7	Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Renal cyst, Ge...	OMIM:611560
Alveolar Echinococcosis	Abnormal pelvis bone morphology, Liver abscess, Eosinophilia, Pancreatic cysts, Bone cyst, Renal ...	ORPHA:284
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Cataract, Renal agenesis, Sensorineural hearin...	OMIM:220500
Apparent Mineralocorticoid Excess	Hypertensive retinopathy, Small for gestational age, Hypertension, Hypokalemia, Failure to thrive...	OMIM:218030
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy	OMIM:616881
Erythroleukemia, Familial, Susceptibility To	Splenomegaly, Hepatomegaly	OMIM:133180
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Osteoporosis, Obesity, Hypertension, Hypokalemia, Glucose intolerance...	OMIM:219090
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res...	OMIM:608022
Telangiectasia, Hereditary Hemorrhagic, Type 5	Elevated hepatic transaminase, Portal hypertension	OMIM:615506
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Joubert Syndrome 21	Anophthalmia, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Megalopapilla, Renal...	OMIM:615636
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Liver abscess, Elevated circulating C-reactive protein concentrati...	ORPHA:54251
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Joubert Syndrome 16	Polydactyly, Renal cyst, Nephronophthisis	OMIM:614465
Trisomy 10P	Absent gallbladder, Thumb contracture, Posteriorly rotated ears, Abnormality of the kidney, Abnor...	ORPHA:171929
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly	ORPHA:79292
Pelvis-Shoulder Dysplasia	Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic ilia, Optic disc coloboma, Hypoplas...	OMIM:169550
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Corneal opacity, Facial palsy,...	ORPHA:570
Erythrocytosis, Familial, 2	Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin	OMIM:263400
Pseudo-Torch Syndrome 1	Hepatomegaly, Renal insufficiency, Cataract, Dystonia, Splenomegaly, Opacification of the corneal...	OMIM:251290
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Large for gestational age, Protruding ear, Tibial bowing, Long hallux, Mul...	ORPHA:500095
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Abnormality of cartilage of external ear, Bilateral microphthalmos, Cu...	ORPHA:2399
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Portal vein hypoplasia, Ascites	OMIM:619433
Autosomal Dominant Hypocalcemia	Writer's cramp, Congestive heart failure, Optic atrophy, Reduced bone mineral density, Depression...	ORPHA:428
Combined Oxidative Phosphorylation Deficiency 39	Flexion contracture, Sinus bradycardia, Congenital contracture, Dystonia, Type I diabetes mellitu...	OMIM:618397
Scheie Syndrome	Corneal opacity, Genu valgum	OMIM:607016
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Retinal calcification, Cortical ...	ORPHA:93325
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Opisthotonus	OMIM:250800
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Small scrotum, Urethral atresia, Conductive hearing impairment...	ORPHA:2052
Liddle Syndrome	Hypertension, Arrhythmia, Hypokalemia, Cerebral ischemia	ORPHA:526
Oslam Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma...	ORPHA:2760
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys...	ORPHA:110
Transaldolase Deficiency	Hepatomegaly, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly...	OMIM:606003
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Failure to thrive, Short stature, Elevated circulating C-reactive protein concentra...	OMIM:619423
Solitary Median Maxillary Central Incisor	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim...	OMIM:147250
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Flexion contracture, Optic atrophy, Sensory axon...	OMIM:609541
Immunodeficiency 42	Splenomegaly, Hepatomegaly	OMIM:616622
Tyrosinemia, Type Iii	Hypertyrosinemia, Elevated hepatic transaminase	OMIM:276710
Ivic Syndrome	Hearing impairment, Joint stiffness, Aplastic clavicle, Preaxial hand polydactyly, Leukocytosis, ...	ORPHA:2307
Atelosteogenesis Type I	Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu...	ORPHA:1190
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked potentials,...	ORPHA:99027
Proboscis Lateralis	Cataract, Corneal opacity, Anophthalmia, Unilateral renal agenesis, Optic nerve hypoplasia, Exter...	ORPHA:141099
Mevalonic Aciduria	Optic disc pallor, Normocytic hypoplastic anemia, Failure to thrive in infancy, Elevated circulat...	OMIM:610377
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Optic disc coloboma, Peters anomaly, Vesicoureteral reflux,...	OMIM:120200
Pearson Syndrome	Reticulocytosis, Pancytopenia, Diabetes mellitus, Small for gestational age, Cardiac conduction a...	ORPHA:699
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Broad hallux, Overlapping toe, Microcytic anemia, Insulin-resistant diabetes mellitus, Genu valgu...	ORPHA:293967
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Depression	OMIM:620114
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive	ORPHA:90790
Incontinentia Pigmenti	Finger syndactyly, Cataract, Corneal opacity, Camptodactyly of finger, Supernumerary nipple, Eosi...	ORPHA:464
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Short stature, Hepatocellular carcinoma, Hyperlipide...	OMIM:232200
Multiple Sulfatase Deficiency	Hepatomegaly, Broad hallux, Corneal opacity, Splenomegaly, Mucopolysacchariduria, Broad thumb, He...	OMIM:272200
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a...	OMIM:271665
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re...	ORPHA:1475
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Optic disc pallor, Inguinal hernia, Cardiac arrest, Rocker bottom foot, Acanth...	OMIM:618947
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:540
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Trisomy 20P	Low-set, posteriorly rotated ears, Finger syndactyly, Hypospadias, Abnormality of the kidney, Cam...	ORPHA:261318
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impai...	OMIM:614230
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Exaggerated startle re...	ORPHA:320406
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Bradycardia	OMIM:608800
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Athetosis, Hypertension, Second degree atri...	OMIM:615474
Meckel Syndrome, Type 2	Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Bile duct proliferation, Polyda...	OMIM:603194
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Posteriorly rotated ears, H...	OMIM:211750
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa...	OMIM:308240
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Progressive neurologic deterioration, Chorioretinal hyperpigmentation, Optic atroph...	OMIM:618329
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Short stature, Elevated circulating aspar...	OMIM:256810
Cerebrotendinous Xanthomatosis	Osteopenia, Optic disc pallor, Resting tremor, Abnormal auditory evoked potentials, Optic neuropa...	ORPHA:909
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, M...	OMIM:618476
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated circulating cre...	ORPHA:230
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentration, Raynaud...	OMIM:615688
Temtamy Preaxial Brachydactyly Syndrome	Abnormal optic disc morphology, Cutaneous finger syndactyly, Partial duplication of the proximal ...	ORPHA:363417
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Oliguria, Weight loss, Progressive hearing impairment, Ly...	ORPHA:514
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Sclerocornea, Cardiomegaly, Abnormal finger morpholo...	ORPHA:3472
Long Qt Syndrome 8	Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo...	OMIM:618447
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Ulnar deviation of the hand or of fingers of the hand, Hepatomegaly, Hypospadias, ...	OMIM:214100
Gm1-Gangliosidosis, Type Iii	Hypoplastic acetabulae, Flared iliac wing, Opacification of the corneal stroma, Dystonia	OMIM:230650
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Overlapping toe, Double outlet right ventricle, Clubbing of toes, Shor...	ORPHA:163956
Apparent Mineralocorticoid Excess	Hypertensive retinopathy, Hypertension, Hypokalemia, Abnormality of circulating cortisol level, L...	ORPHA:320
Mucopolysaccharidosis, Type Iva	Joint laxity, Hepatomegaly, Coxa valga, Epiphyseal deformities of tubular bones, Metaphyseal wide...	OMIM:253000
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Cataract, Limb joint contracture, Tremor, Cryptorchidism, Hydroneph...	OMIM:620327
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irr...	OMIM:610442
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Small scrotum, Hypoplastic ischia, Hypoplastic ili...	ORPHA:85201
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Tangier Disease	Peripheral axonal neuropathy, Hypertriglyceridemia, Thrombocytopenia, Hepatosplenomegaly, Facial ...	ORPHA:31150
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H...	OMIM:201475
Stuve-Wiedemann Syndrome 1	Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of finger, Os...	OMIM:601559
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Tbck-Related Intellectual Disability Syndrome	Broad toe, Neurogenic bladder, Corneal opacity, Decreased response to growth hormone stimulation ...	ORPHA:488632
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis	ORPHA:79085
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Joint stiffness, Conge...	ORPHA:505248
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Posteriorly rotated ears, Tapered finger, Coxa valga, Cryptorchidism...	OMIM:301040
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Hepatomegaly	OMIM:601979
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Buphthalmos, Co...	OMIM:236670
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Epiphyseal dysplasia, Hyponatremia, Congenital hip dislocation, Calcinosis, Splenomeg...	OMIM:617913
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati...	OMIM:616834
Congenital Primary Aphakia	Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,...	ORPHA:83461
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Mucopolysaccharidosis Type 1	Corneal opacity, Joint stiffness, Splenomegaly, Sensorineural hearing impairment, Split hand, Opt...	ORPHA:579
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Encephalitis Lethargica	Tremor, Stiff neck, Mental deterioration, Bradycardia	ORPHA:83600
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Urinary incontinence, Decreased nerv...	ORPHA:101085
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Abnorm...	ORPHA:860
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Proximal placement of thumb, Larg...	OMIM:229850
2Q37 Microdeletion Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Supernumerary ...	ORPHA:1001
Griscelli Syndrome	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Hepatitis, Ascites, Abnormal circulating lip...	ORPHA:381
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Joi...	OMIM:609069
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Tremor, Bradycardia, Neutropenia, Failure to thrive, Neonatal hypoglycemia	OMIM:617248
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc...	ORPHA:1806
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Hy...	ORPHA:159
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Reduced bone mineral density, Axonal loss, Shoulder dislocation, Hypo...	ORPHA:404454
Combined Oxidative Phosphorylation Deficiency 4	Intrauterine growth retardation, Hyperammonemia, Hepatomegaly	OMIM:610678
Hurler Syndrome	Hepatomegaly, Corneal opacity, Camptodactyly of finger, Splenomegaly, Limitation of joint mobilit...	ORPHA:93473
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath...	ORPHA:805
Tempi Syndrome	Polycythemia, Increased hematocrit, Abnormality of the kidney	ORPHA:284227
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Generalized dystonia, Elevated circulating creatine kinas...	OMIM:614298
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, B...	OMIM:127550
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Leigh Syndrome	Multiple joint contractures, Ventricular septal defect, Hypoglycemia, Progressive neurologic dete...	ORPHA:506
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Craniosynostosis, Metaphyseal chondrodysp...	OMIM:250410
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hepatomegaly, Corneal opacity, Joint stiffness, Splenomegaly, Metaphyseal w...	OMIM:253200
Cholera	Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Irritability, Hypovole...	ORPHA:173
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Cataract, Hypospadias, Nephroblastoma, Posteriorly r...	OMIM:257300
Muckle-Wells Syndrome	Camptodactyly of finger, Splenomegaly, Vasculitis, Optic atrophy, Arthritis, Hernia of the abdomi...	ORPHA:575
Branchiooculofacial Syndrome	Anophthalmia, Proximal placement of thumb, Renal cyst, Conductive hearing impairment, Clinodactyl...	OMIM:113620
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Congenital Disorder Of Deglycosylation 1	Hepatomegaly, Decreased sensory nerve conduction velocity, Corneal opacity, Heparan sulfate excre...	OMIM:615273
Melas	Wolff-Parkinson-White syndrome, Short attention span, Peripheral axonal neuropathy, Diabetes mell...	ORPHA:550
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Primary Sclerosing Cholangitis	Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated a...	ORPHA:171
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Optic atrophy, Hypocalcemic se...	OMIM:612301
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Exaggerated startle response, Overlapping toe, Flexion contracture...	OMIM:617301
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Cardiomegaly, In...	ORPHA:465508
Colchicine Poisoning	Hyponatremia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Abnormal blood io...	ORPHA:31824
Immunodeficiency 32B	Splenomegaly, Hepatomegaly, Failure to thrive, Hypoalbuminemia	OMIM:226990
Gorham-Stout Disease	Abnormality of the internal auditory canal, Hearing impairment	ORPHA:73
Sjogren-Larsson Syndrome	Astigmatism, Flexion contracture, Opacification of the corneal epithelium	OMIM:270200
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,...	ORPHA:2298
Pseudohypoaldosteronism, Type Iib	Hypertension, Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension, Hyperchloremia, Hyperkalemia	OMIM:614495
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Short stature, Pancreatic fibrosis, Hepatocellular c...	OMIM:232220
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, Multiple renal cysts, Renal cyst	OMIM:614883
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H...	OMIM:207900
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Myocarditis, Metaphyseal chondrodysplasia, Atrioventricu...	ORPHA:93317
Larsen Syndrome	Joint laxity, Vertebral fusion, Short metacarpal, Corneal opacity, Spatulate thumbs, Cryptorchidi...	OMIM:150250
Mend Syndrome	Cataract, Broad hallux, Overlapping fingers, Abnormal auditory evoked potentials, Overlapping toe...	ORPHA:401973
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Posteriorly rotated ears, Failure to thrive in infancy, Tapered fin...	OMIM:618829
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante...	OMIM:610829
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Cardio...	ORPHA:57777
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Cirrhosis, Hypercholesterolemia, Failure to thrive, Hepatic s...	ORPHA:528
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ...	ORPHA:300298
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration,...	ORPHA:36234
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Athetosis...	ORPHA:369929
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Low-set ears, Microphthalmia, Ocular anterior segment dysgenesis, Macr...	OMIM:615145
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Pseudohypoaldosteronism, Type Iie	Hypertension, Hyperchloremia, Hyperkalemia	OMIM:614496
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating C-reactive protein concentratio...	ORPHA:829
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating cortisol level, Arachnodactyly, Rocker bottom foot, Craniosyn...	OMIM:201750
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Flattened femoral head, Flared ...	ORPHA:79255
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
D-Bifunctional Protein Deficiency	Osteopenia, Hepatomegaly, Decreased nerve conduction velocity, Splenomegaly, Split hand, Renal cy...	OMIM:261515
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Aica-Ribosuria Due To Atic Deficiency	Secundum atrial septal defect, Hyponatremia, Optic atrophy, Hypoglycemia	OMIM:608688
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Cryptorchidism, ...	ORPHA:73246
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert...	ORPHA:231625
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Mucolipidosis Ii Alpha/Beta	Osteopenia, Cardiomegaly, Metaphyseal widening, Megalocornea, Hepatomegaly, Split hand, Flat acet...	OMIM:252500
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce...	ORPHA:435660
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Bartsocas-Papas Syndrome 1	Ectopic kidney, Bilateral cryptorchidism, Flexion contracture, Hypoplastic iliac wing, Micropenis...	OMIM:263650
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti...	ORPHA:466677
Cerebral Visual Impairment	Optic disc pallor, Short attention span, Optic nerve hypoplasia, Optic atrophy, Retinopathy of pr...	ORPHA:447788
Oculodentodigital Dysplasia	Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental enamel morphology, Short hallu...	ORPHA:2710
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Decreased methionine synthase activity, Short stature, Smal...	OMIM:277380
Thymoma	Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weig...	ORPHA:99867
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Short stature, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc, Failur...	OMIM:201100
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Ventricular septal defect, Abnormal de...	ORPHA:1782
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine kinase ...	ORPHA:2785
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem...	OMIM:620152
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea...	OMIM:620300
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Posteriorly rotated ears, Corneal opacity, Keratitis, Microtia, Conjunctivitis	OMIM:602562
Mercury Poisoning	Tachycardia, Confusion, Tremor, Hypertension, Hypokalemia, Hypotension, Dystonia	ORPHA:330021
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Small for gestational ag...	OMIM:251300
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndacty...	OMIM:270400
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Neurooculorenal Syndrome	Decreased circulating cortisol level, Dextrocardia, Short hallux, Conjugated hyperbilirubinemia, ...	OMIM:620305
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Irritability, Joint c...	OMIM:617864
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir...	OMIM:614643
2P15P16.1 Microdeletion Syndrome	Decreased testicular size, Multicystic kidney dysplasia, Sandal gap, Optic nerve hypoplasia, Camp...	ORPHA:261349
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dementia, Dystonia	OMIM:272750
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Decreased methylmalonyl-Co...	OMIM:251110
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Tremor, Generalized joint laxity, Depression, Pigmentary retinopathy, Lipoma, ...	ORPHA:502423
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Growth delay, ...	OMIM:617388
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Elevated circulating creatine kinase concentration, Microcytic anemia, Optic atrophy, Highly elev...	OMIM:251900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity, Depression, Abnormal autonomic nervous syste...	ORPHA:293987
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Sensorineural hearing impairment, Papillary cystadeno...	OMIM:193300
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Mucopolysaccharidosis Type 2	Progressive neurologic deterioration, Abnormal tricuspid valve morphology, Retinal degeneration, ...	ORPHA:580
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis	ORPHA:435651
Mucolipidosis Iii Gamma	Joint stiffness, Flat capital femoral epiphysis, Genu valgum, Flared iliac wing, Opacification of...	OMIM:252605
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Hypoglycemia, Epistaxis, Chronic neutropenia, Hyperlipidemia, O...	ORPHA:79259
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Broad toe, Posteriorly rotated ears, Rocker bottom foot, Sensorineural hearing impa...	OMIM:612582
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration	ORPHA:85414
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Chromosome 17Q12 Deletion Syndrome	Renal cyst, Protruding ear, Short palm, Long toe, Multicystic kidney dysplasia, Cryptorchidism, U...	OMIM:614527
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin...	ORPHA:308552
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Opisthotonus	ORPHA:95232
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Cystinosis, Nephropathic	Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Progressive neurologic deteriorati...	OMIM:219800
Meckel Syndrome, Type 4	Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Bile duct proliferation, Microp...	OMIM:611134
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Astigmatism, Abnormal metacarpal morphology, Conductive hearing impairment, Coronal...	ORPHA:2095
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa...	ORPHA:2473
Dubowitz Syndrome	Syndactyly, Inguinal hernia, Short attention span, Aplastic anemia, Acute lymphoblastic leukemia,...	OMIM:223370
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Elevated circula...	OMIM:608779
Williams Syndrome	Osteopenia, Hypoplasia of penis, Cardiomegaly, Tremor, Abnormal tubulointerstitial morphology, Pr...	ORPHA:904
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Failure to thrive, Rickets	OMIM:602722
Muscle-Eye-Brain Disease	Optic atrophy, Elevated circulating creatine kinase concentration, Cognitive impairment	ORPHA:588
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Peripheral axonal neuropathy, Hypertrophic cardiomyopathy, Hypocholesterolemia	OMIM:618810
Ichthyosis, X-Linked	Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism	OMIM:308100
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Tachycardia, Hypokalemia, Weight loss	OMIM:613239
Infantile Nephropathic Cystinosis	Rickets, Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Glycosuria, Cogni...	ORPHA:411629
Microphthalmia, Syndromic 1	Anophthalmia, Microcornea, Prominent fingertip pads, Iris coloboma, Syndactyly, Hypospadias, Cryp...	OMIM:309800
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Aplasia of the thymus, Facial palsy, Broad hallux, Optic disc coloboma, Unconjugated hyperbilirub...	OMIM:620186
Fanconi Renotubular Syndrome 1	Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Glycosuria	OMIM:134600
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Optic disc pallor, Inguinal hernia, Ventricular septal defect, Pr...	OMIM:614947
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Opisthotonus, Weight loss, Pigmentary retinopathy, Incre...	ORPHA:216866
Orthostatic Hypotension 2	Orthostatic hypotension, Hypoglycemia, Anemia	OMIM:618182
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Craniosynostosis, Sensorineural hearing impairment, Obesity, Choreo...	ORPHA:261197
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c, Dystonia	OMIM:616113
Glutaric Acidemia I	Reduced peroxisomal glutaryl-CoA oxidase activity, Elevated circulating glutaric acid concentrati...	OMIM:231670
Meningococcal Meningitis	Shock, Papilledema, Stiff neck, Elevated circulating C-reactive protein concentration, Irritabili...	ORPHA:33475
Kindler Epidermolysis Bullosa	Urethral stricture, Finger syndactyly, Corneal opacity, Camptodactyly of finger, Phimosis, Flexio...	ORPHA:2908
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell car...	ORPHA:2869
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracra...	ORPHA:251274
Cerebrotendinous Xanthomatosis	Optic disc pallor, Angina pectoris, Myocardial infarction, Osteoporosis, Xanthelasma, Abnormal ci...	OMIM:213700
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Tricuspid regurgitation, Short fifth metatarsal, Joint hypermobility, 2-...	OMIM:261990
Fucosidosis	Hepatomegaly, Corneal opacity, Cardiomegaly, Mucopolysacchariduria, Failure to thrive, Hearing im...	ORPHA:349
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,...	ORPHA:470
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Hyperopic astigmatism, Irregula...	OMIM:252600
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hypokalemia, Palpitations, Weight loss	OMIM:188580
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea, Protruding ear	OMIM:268320
East Syndrome	Peripheral axonal neuropathy, Hypokalemia, Hyperaldosteronism, Peripheral hypomyelination, Increa...	ORPHA:199343
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Mixed hearing impairment, Cataract, Block vertebrae, Tarsal synostosis, Short m...	OMIM:272460
Vacterl/Vater Association	Bifid scrotum, Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplas...	ORPHA:887
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Cataract, Optic atrophy, Protruding ear, Microphthalmia, Leukemia	ORPHA:2526
Hajdu-Cheney Syndrome	Osteopenia, Decreased skull ossification, Iris coloboma, Partial absence of toe, Hepatomegaly, Hy...	ORPHA:955
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Pelvic kidn...	OMIM:613001
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Renal cyst, Hepatomegaly	OMIM:614862
Sandhoff Disease	Exaggerated startle response, Orthostatic hypotension, Cardiomegaly, Progressive psychomotor dete...	OMIM:268800
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy, Glycosuria, Hypertrophic cardiomyopathy, Failure to thrive...	ORPHA:436271
Schinzel-Giedion Syndrome	Renal cyst, Tibial bowing, Myeloid leukemia, Micropenis, Streak ovary, Hypospadias, Hypsarrhythmi...	ORPHA:798
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly, Mitral valve prolapse, Mitral regurgitation, Ch...	ORPHA:309155
Hereditary Fructose Intolerance	Hepatomegaly, Reduced circulating aldolase concentration, Jaundice, Hypermagnesemia, Growth delay...	ORPHA:469
Gm1-Gangliosidosis, Type Ii	Coxa valga, Joint stiffness, Splenomegaly, Optic atrophy, Progressive psychomotor deterioration, ...	OMIM:230600
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Cupped ear, Persistence of hemoglobin F, Low-set ears, Overfolded helix, Joint hypermobility	OMIM:617101
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Thickened helices, Supernumerary nipple, C...	ORPHA:261494
Hypothyroidism, Congenital, Nongoitrous, 2	Umbilical hernia, Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia	OMIM:218700
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Triphalangeal thum...	ORPHA:857
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Hypouricemia, Abnormal erythrocyte enzyme level, Optic...	ORPHA:1187
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Congenital hip dislocation, Ventricular septal defect, Metatarsus adductus, Cl...	OMIM:244450
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia, Increased mean corpuscular volume, Inc...	OMIM:619774
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:201450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hypertriglyceridemia, Ventricular septal defect, Macular atrophy, Hypoglycemia,...	OMIM:619418
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct...	ORPHA:206436
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Histiocytoid Cardiomyopathy	Hepatomegaly, Corneal opacity, Cardiomegaly, Optic atrophy, Renal cyst, Polycystic ovaries, Micro...	ORPHA:137675
Branchio-Oculo-Facial Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Cataract, Renal agenesis, Abnorm...	ORPHA:1297
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Optic disc pallor, Exaggerated startle response, Uterine prolapse, Bicuspid aortic va...	ORPHA:438213
Triploidy	Intrauterine growth retardation, Abnormality of the gallbladder, Abnormality of the pancreas, Hep...	ORPHA:3376
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Sclerocornea, Proximal placement of thumb, Iris coloboma, Low-set, posterior...	ORPHA:818
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Optic atrophy, Abnormal metaphyseal trabe...	OMIM:224300
Asparagine Synthetase Deficiency	Exaggerated startle response, Optic nerve hypoplasia, Tremor, Irritability, Large hands, Failure ...	OMIM:615574
Joubert Syndrome 2	Renal insufficiency, Postaxial hand polydactyly, Optic disc coloboma, Renal cyst, Postaxial foot ...	OMIM:608091
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Abnormal pinna morphology, Craniosynostosis, Micromelia, Posta...	OMIM:200995
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Posta...	OMIM:615989
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Hyperammonemia, Hypero...	ORPHA:415
Trichohepatoenteric Syndrome 1	Hepatomegaly, Failure to thrive, Short stature, Small for gestational age, Abnormality of the pan...	OMIM:222470
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Choroidal neovascularization, Optic neuropathy, Re...	OMIM:259900
Johanson-Blizzard Syndrome	Hepatomegaly, Failure to thrive, Short stature, Elevated circulating aspartate aminotransferase c...	OMIM:243800
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Juvenile Polyposis Syndrome	Clubbing, Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia	OMIM:174900
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Rett Syndrome	Increased serum pyruvate, Failure to thrive, Cholecystitis, Hyperammonemia	ORPHA:778
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Optic atrophy, Short metatarsal, Cone-shaped epiphysis, Arthritis, ...	OMIM:613328
Neurofibromatosis Type 1	Cataract, Corneal opacity, Recurrent fractures, Abnormality of the upper urinary tract, Joint sti...	ORPHA:636
Dpagt1-Cdg	Prolonged QT interval, Failure to thrive, Lipodystrophy, Arachnodactyly, Tremor, Emotional blunti...	ORPHA:86309
Primary Hyperoxaluria	Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Recurrent fractures, Heart block,...	ORPHA:416
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Long fingers, Optic atro...	OMIM:617527
Olmsted Syndrome 1	Autoamputation of digits, Flexion contracture, Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97278
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Hyponatremia, Decreased circulating cortisol level, Hypovolemia, Hyperkalemia, Weight loss...	ORPHA:90794
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Rocker bottom foot, Long f...	ORPHA:521426
Polysyndactyly With Cardiac Malformation	Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Hepatic cysts	OMIM:263630
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Vaginal atresia	OMIM:248450
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Small for gestational age, Neonatal epiphyseal stippling, Optic ...	OMIM:101800
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Transient neutropenia, Large for gestational age, Bowing of the legs, Macrotia...	OMIM:617107
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy, Glycosuria, Hypertrophic cardiomyopathy, Failure to thrive...	OMIM:220110
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Recurrent fractures, Optic atrophy, R...	OMIM:268315
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Failure to thrive	OMIM:617591
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Low-set ears, H...	OMIM:618161
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated circulating creatine kinase concentration, Optic neuropathy, Tremor, Dilat...	OMIM:610505
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Osteomyelitis, Autoamputation of digits, Kera...	OMIM:256800
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatomegaly, Sensorineural hearing impairment, Optic atrophy, Renal cyst, Epiphys...	OMIM:601539
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia, Hyperaldosteronism	OMIM:605635
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Tre...	OMIM:615512
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Orofaciodigital Syndrome Type 1	Finger syndactyly, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Tarsal synosto...	ORPHA:2750
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Dystonia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypo...	OMIM:175780
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Brachydactyly, Corneal opacity, Aplasia of the distal phalanx of the 5th toe, Aplasia of the dist...	ORPHA:364577
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dy...	OMIM:614922
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss, As...	ORPHA:83469
Secondary Intestinal Lymphangiectasia	Right ventricular failure, Decreased prealbumin level, Reduced circulating transferrin concentrat...	ORPHA:90363
Joubert Syndrome 14	Posteriorly rotated ears, Postaxial polydactyly, Optic atrophy, Renal cyst, Low-set ears, Microph...	OMIM:614424
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Vipoma	Diabetes mellitus, Hypercalcemia, Weight loss, Hematochezia, Normochromic anemia, Hypokalemia, In...	ORPHA:97282
Isolated Complex I Deficiency	Increased serum pyruvate, Optic disc pallor, Diabetes mellitus, Hypoglycemia, Optic neuropathy, H...	ORPHA:2609
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Hypoplas...	ORPHA:495875
Mucolipidosis Type Iv	EEG abnormality, Corneal opacity	ORPHA:578
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro...	ORPHA:1435
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Overweight, Astigmatism	OMIM:619769
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Hypoplastic scapulae, Posteriorly rotated ears, Abnormal pinna morphology, Bowing o...	OMIM:269860
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Oculoauricular Syndrome	Cataract, Sclerocornea, Absent earlobe, Developmental cataract, Microcornea, Iris cyst, Posterior...	OMIM:612109
Leber Optic Atrophy	Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leb...	OMIM:535000
Wolf-Hirschhorn Syndrome	Low-set, posteriorly rotated ears, Hypoplastic pubic ramus, Hypospadias, Abnormality of the kidne...	ORPHA:280
Von Hippel-Lindau Disease	Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adenoma, Myocard...	ORPHA:892
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Primary hyp...	ORPHA:143
Wolfram Syndrome	Gastrointestinal hemorrhage, Diabetes mellitus, Joint stiffness, Optic atrophy, Cardiomyopathy, D...	ORPHA:3463
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Optic atrophy, Reduced bone mineral density, Increase...	ORPHA:561
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Congestive heart failu...	OMIM:171420
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Peters Plus Syndrome	Ureteral duplication, Micromelia, Microcornea, Clitoral hypoplasia, Conductive hearing impairment...	ORPHA:709
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Mixed hearing impairment, Down-sloping shoulders, Tapered finger, Cupped ear, Renal cyst, Conjunc...	OMIM:615560
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A...	ORPHA:93111
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Recessive X-Linked Ichthyosis	Cryptorchidism, Opacification of the corneal stroma	ORPHA:461
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Limitation of joint mobility, Coxa vara, Hypoplasia of the capital femoral epiphysis, Irregular e...	OMIM:313400
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Palp...	ORPHA:231580
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Postnatal growth retardation, Splenomegaly, Pancreatic lymphangiectasis, Hepatosple...	ORPHA:1655
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Tremor,...	ORPHA:3455
Marden-Walker Syndrome	Epispadias, Abnormal penis morphology, Multicystic kidney dysplasia, Hypospadias, Abnormality of ...	ORPHA:2461
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Postaxial ...	ORPHA:2075
Neuromuscular Oculoauditory Syndrome	Posteriorly rotated ears, Simple ear, Decreased nerve conduction velocity, Sensorineural hearing ...	OMIM:618733
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Posteriorly rotated ears, Supernumerary nipple, Cryptorchidism, 2-3 toe cutaneous ...	OMIM:618454
Xfe Progeroid Syndrome	Cachexia, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Hypertension, Hypoalbumin...	OMIM:610965
Gomez-Lopez-Hernandez Syndrome	Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Craniosynostosis...	OMIM:601853
Distal Deletion 10Q	Congenital sensorineural hearing impairment, Cochlear malformation, Protruding ear, Facial dipleg...	ORPHA:96148
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Failure to thrive, Posteriorly rotated ears, Facial palsy, Arachnod...	OMIM:300373
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Failure to thrive, Corneal opacity, Craniosynostosis	ORPHA:79396
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Renal cyst, Protruding ear, Clin...	ORPHA:2031
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Friedreich Ataxia	Abnormal EKG, Diabetes mellitus, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyop...	OMIM:229300
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul...	OMIM:611584
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Gitelman Syndrome	Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P...	OMIM:263800
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Chordee, Peters anomaly...	OMIM:309801
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Familial Hyperaldosteronism Type Ii	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert...	ORPHA:404
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyl...	OMIM:107480
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Hyper...	ORPHA:77293
Mucopolysaccharidosis Type 2, Attenuated Form	Flexion contracture, Abnormal tricuspid valve morphology, Papilledema, Abnormal foveal morphology...	ORPHA:217093
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Exaggerated startle response, Dystonia	ORPHA:438216
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Primary hyp...	ORPHA:99880
Meckel Syndrome, Type 6	Abnormal internal genitalia, Absent gallbladder, Postaxial hand polydactyly, Renal cyst, Horsesho...	OMIM:612284
Sclerosteosis 1	Papilledema, Syndactyly, Facial palsy, Sclerotic scapulae, Optic atrophy, 2-3 finger syndactyly, ...	OMIM:269500
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, Remnants of the hyaloid vascular system, Optic ner...	OMIM:603671
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Decreased methylmalonyl-Co...	OMIM:251100
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Cryptorchidism, Microcornea, Opacification of the corneal stroma, Anterior chamber s...	OMIM:601499
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Tremor, Splenomegaly, Postaxial ...	ORPHA:1454
Joubert Syndrome 8	Hepatomegaly, Obesity, Prolonged neonatal jaundice	OMIM:612291
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Weight ...	ORPHA:781
Familial Hyperaldosteronism Type I	Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Dexamethasone-suppressible primary...	ORPHA:403
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypomagnesemia, Hypertension, Hypokalemia, Hyperaldosteronism, Peripheral hypomyelination, Increa...	OMIM:612780
Nelson Syndrome	Intracranial hemorrhage, Hypertension, Hypokalemia, Increased circulating cortisol level, Type II...	ORPHA:199244
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Generalized joint laxity, Coloboma, Abnormal optic disc morphology, Hyperm...	ORPHA:508498
Leprechaunism	Reduced subcutaneous adipose tissue, Decreased body weight, Insulin resistance, Hyperinsulinemia,...	ORPHA:508
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia	OMIM:267200
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Galactosialidosis	Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma, Visceromega...	OMIM:256540
Proteus Syndrome	Central heterochromia, Abnormal finger morphology, Renal cyst, Clinodactyly of the 5th finger, Fi...	ORPHA:744
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic disc pallor, Optic neuropathy, Optic atrophy, Choreoathetosis, Hyperalaninemia, Failure to ...	OMIM:618249
Mucopolysaccharidosis Type 2, Severe Form	Flexion contracture, Abnormal tricuspid valve morphology, Papilledema, Abnormal foveal morphology...	ORPHA:217085
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Conductive hearing impairment, Clinod...	ORPHA:1606
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Papilledema, Pancytopenia, Corneal opacity, Cachexia, Abnormality of the spleen, T...	ORPHA:2072
Bartter Syndrome, Type 3	Hyperchloriduria, Abnormal retinal vascular morphology, Hypokalemia, Hyperaldosteronism, Increase...	OMIM:607364
Ablepharon Macrostomia Syndrome	Hypoplasia of penis, Toe syndactyly, Corneal opacity, Camptodactyly of finger, Corneal erosion, M...	ORPHA:920
Jacobsen Syndrome	Low-set, posteriorly rotated ears, Broad hallux phalanx, Multicystic kidney dysplasia, Cataract, ...	ORPHA:2308
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Short stature, Pancreatic fibrosis, Postnatal growth retardation, Steatorrhea, Hepa...	OMIM:616263
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Block vertebrae, Renal agenesis, Unilateral external ...	OMIM:164210
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Corneal opacity, Unilateral renal agenesis, Hip dislocation, Pyelonephr...	ORPHA:90348
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Low cholesterol esterification rate,...	OMIM:257220
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Norrie Disease	Failure to thrive, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectop...	ORPHA:649
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Urachal cyst, Neutrophilia, Macrocytic anem...	OMIM:608203
Cockayne Syndrome	Congenital contracture, Retinal arteriolar constriction, Retinal degeneration, Intention tremor, ...	ORPHA:191
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Rickets, Stage 5 chronic kidney disease, Corneal crystals	OMIM:219900
Bardet-Biedl Syndrome 20	Papilledema, Hypercholesterolemia, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syn...	OMIM:619471
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ...	OMIM:221800
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:158048
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,...	ORPHA:2973
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Hypertension, Po...	OMIM:609049
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Hypospadias, Posteriorly rotated ears, Abnormal pinna morphology, Cryptorchidism, Sen...	OMIM:616975
Omenn Syndrome	Splenomegaly, Hepatomegaly, Failure to thrive, Hypoproteinemia	OMIM:603554
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Decr...	ORPHA:231632
Yunis-Varon Syndrome	Congenital hip dislocation, Sclerocornea, Short metatarsal, Protruding ear, Absent hallux, Small ...	OMIM:216340
Classic Homocystinuria	Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Arachnodact...	ORPHA:394
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio...	OMIM:601678
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Leukocoria, Reduced bone mineral...	ORPHA:1556
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97261
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Hutchinson-Gilford Progeria Syndrome	Osteoarthritis, Reduced bone mineral density, Conductive hearing impairment, Limitation of moveme...	ORPHA:740
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Pulmonary embolism, Abnormal retinal vascular mo...	ORPHA:3205
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Clinodactyly of the 5th fi...	ORPHA:373
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Glycosur...	ORPHA:3337
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Failure to thrive	OMIM:239200
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Cataract, Renal cyst, Conjunctivitis, Hearing i...	ORPHA:488618
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Elevated circulating creatine kinase concentration, Flexion contracture, Optic atrophy, Pigmentar...	OMIM:613154
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ...	OMIM:214700
Leptospirosis	Papilledema, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctiv...	ORPHA:509
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Cataract, Urethrovaginal fistula, Micromelia, Cryptorchidism, Abnormal pelvi...	ORPHA:93271
Hyperaldosteronism, Familial, Type Iii	Hypertension, Hypokalemia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Keratitis, Cryptorchidism, Sens...	ORPHA:910
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney...	OMIM:267010
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Keratoconjunctivitis, Hematuria, Opacification of the corneal stroma, Cor...	OMIM:158310
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Posteriorly rotated ears, Corneal opacity, Aplasia of the distal phalanx of the 5th toe, Sensorin...	OMIM:608670
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe generalized osteoporosis, Optic atrophy, Hypoplastic pubic bone, Cone-sha...	OMIM:210730
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
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
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin...	ORPHA:565612
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Alagille Syndrome 1	Duplicated collecting system, Hypoplasia of the ulna, Failure to thrive, Cataract, Band keratopat...	OMIM:118450
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Liddle Syndrome 2	Hypertension, Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypertension, Hypokalemia, Decreased circulating renin level	OMIM:618126
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Hearing impairment, Renal hypoplasia/aplasia, ...	ORPHA:261265
Lysinuric Protein Intolerance	Hepatomegaly, Short stature, Hypolysinemia, Increased circulating ferritin concentration, Splenom...	OMIM:222700
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Absent thumb, Short thumb, 2-3 toe syndactyly, Abnormal optic disc mor...	OMIM:617516
Liddle Syndrome 1	Hypertension, Hypokalemia, Decreased circulating renin level	OMIM:177200
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Small for gestational age, Cryptorchidism, Generalized...	ORPHA:1596
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Failure to thrive, Hydroureter, Corneal opacity, Camptodactyly of finger, Abnormality of the kidn...	ORPHA:2273
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Mitochondrial Dna-Associated Leigh Syndrome	Failure to thrive, Cardiac conduction abnormality, Segmental peripheral demyelination/remyelinati...	ORPHA:255210
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Hypovolemia, Elevated circulating creatinine concentration, Abnormal ...	ORPHA:411634
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Autosomal Recessive Robinow Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys...	ORPHA:1507
Congenital Disorder Of Glycosylation, Type Iim	Hypertension, Atrial septal defect, Enamel hypoplasia, Rod-cone dystrophy, Neonatal hyperbilirubi...	OMIM:300896
Isotretinoin-Like Syndrome	Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi...	ORPHA:2306
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Proximal Renal Tubular Acidosis	Enamel hypomineralization, Hypovolemia, Bicarbonaturia, Reduced bone mineral density, Glycosuria,...	ORPHA:47159
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Sinus bradycardia	OMIM:126320
Robinow Syndrome	Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Webbed penis, Micropenis, Fused ...	ORPHA:97360
Tsh-Secreting Pituitary Adenoma	Osteopenia, Supraventricular arrhythmia, Pericardial effusion, Tremor, Congestive heart failure, ...	ORPHA:91347
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Microcornea, Abnormality of the ute...	ORPHA:199
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Abnormal acetabulum morphology, Retinal dystrophy, Postaxial polydactyly, Rhizomelic leg shorteni...	ORPHA:397715
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Clinodactyly of the 5th finger, Small earlobe, Pelvic k...	OMIM:619522
Cutis Laxa, Autosomal Recessive, Type Ib	Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Bradycardia, Pulmonary insuffic...	OMIM:614437
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Corneal opacity, Bone cyst, Osteolysis, Iris coloboma	ORPHA:2396
Tyrosinemia Type 2	Tremor, Corneal opacity	ORPHA:28378
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97280
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Low-to...	OMIM:241200
Joubert Syndrome 1	Optic disc pallor, Postaxial hand polydactyly, Optic disc coloboma, Renal cyst, Postaxial foot po...	OMIM:213300
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Posteriorly rotated ears, Decreased response to growth hormone stimulation test, EEG with burst s...	OMIM:617260
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Hearing impairment, Abnormal preputium morphology, Ab...	ORPHA:2907
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis, Tremor, Optic atrophy, Depression, Blepharospasm, Choreoathetosis, Pigmentary ret...	OMIM:234200
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, Hypoplasia of...	ORPHA:3015
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure	ORPHA:774
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Narrow greater sciatic notch, Short palm, Posterior helix pit, Hepatomegaly, Hypospad...	OMIM:312870
Cerebrocostomandibular Syndrome	Short humerus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Posteriorly rotated ea...	OMIM:117650
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Xanthelasma, Hyperu...	OMIM:232240
Beckwith-Wiedemann Syndrome	Ureteral duplication, Large for gestational age, Cardiomegaly, Vesicoureteral reflux, Nephropathy...	ORPHA:116
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Optic atrophy	OMIM:617281
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Hypochloremia, Hypertension, Hypokalemia, Hyperaldostero...	ORPHA:89938
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Failure to thrive, Thyroid C cell hyperplasia, Sclerocornea	OMIM:300952
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Urinary incontinence, Uplifted earlobe, Asplenia, Flexion contracture, Calcaneoval...	ORPHA:261537
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Increased circulating corticosterone level, Hypertension, H...	ORPHA:90793
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Flexion contracture, Optic atrophy, Genu...	OMIM:619321
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Sclerocorn...	OMIM:188400
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Urinary incontinence, Uplifted earlobe, Asplenia, Abnormal pupil morphology, Flexi...	ORPHA:261552
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Obesity, Hepatosplenomegaly, Cholecystitis, Cholelithiasis	OMIM:301066
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization...	ORPHA:91500
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Small hand, Short foot, Joint hyperm...	ORPHA:2714
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Porphyria, Congenital Erythropoietic	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating uroporphyrin concentrat...	OMIM:263700
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Ventricular septal defect, Optic neuropathy, Broad femoral neck, Optic atr...	OMIM:619727
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Intracranial hemorrhage, Hypertension, Hypokalemia, Decreas...	ORPHA:90795
Pagod Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the spleen, Optic atrophy,...	ORPHA:991
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Optic atrophy, Depression, Dementia, Type II diabetes mellitus, Memory impairment	OMIM:604121
Neurocardiofaciodigital Syndrome	Optic disc pallor, Syndactyly, Cataract, Small for gestational age, Sclerocornea, Polydactyly, Ve...	OMIM:619869
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma	OMIM:231005
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Limb Body Wall Complex	Duplication of hand bones, Corneal opacity, Abnormality of the kidney, Broad hallux, Aplasia/hypo...	ORPHA:2369
Mowat-Wilson Syndrome	Bifid scrotum, Urinary incontinence, Uplifted earlobe, Asplenia, Flexion contracture, Calcaneoval...	ORPHA:2152
Cystic Fibrosis	Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Steatorrhea, Failure to thrive, P...	OMIM:219700
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Cataract, Adrenal hyperplasia, Opacification of the corneal stroma	ORPHA:3453
Penile Agenesis	Urethral atresia, male, Hydroureter, Posteriorly rotated ears, Cryptorchidism, Fetal pyelectasis,...	ORPHA:49
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive	OMIM:613090
7Q11.23 Microduplication Syndrome	Inguinal hernia, Ventricular septal defect, Craniosynostosis, Congenital diaphragmatic hernia, Tr...	ORPHA:96121
Hypomagnesemia 2, Renal	Hypokalemia, Chondrocalcinosis, Hypomagnesemia	OMIM:154020
Generalized Glucocorticoid Resistance Syndrome	Hypertension, Hypokalemia, Increased circulating cortisol level, Hypoglycemia	ORPHA:786
Wolfram Syndrome 2	Diabetes mellitus, Optic atrophy, Optic neuropathy, Depression	OMIM:604928
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Abnormal mesente...	ORPHA:449395
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Ectopic thyroid, Microphthalmia, H...	ORPHA:42775
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Renal cyst	OMIM:617100
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Small scrotum, Congenital hip dislocation, Enlarge...	OMIM:606170
C Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Toe syndactyly, Failure to thriv...	ORPHA:1308
Metachromatic Leukodystrophy, Late Infantile Form	Cholecystitis	ORPHA:309256
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car...	OMIM:613254
Metachromatic Leukodystrophy, Juvenile Form	Cholecystitis	ORPHA:309263
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Liver abscess, Cholangitis, Cholecystitis	ORPHA:183675
Metachromatic Leukodystrophy, Adult Form	Cholecystitis, Neoplasm of the gallbladder	ORPHA:309271
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Uterine leiomyoma, Renal cyst	ORPHA:480536
Oculoectodermal Syndrome	Supernumerary nipple, Pineal cyst, Microcornea, Astigmatism, Opacification of the corneal stroma,...	OMIM:600268
Structural Heart Defects And Renal Anomalies Syndrome	Low-set ears, Renal insufficiency, Overlapping toe, Renal cyst	OMIM:617478
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Remnants of the hyaloid vascula...	OMIM:619539
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypertension, Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level	OMIM:202010
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Exaggerated startle response	OMIM:618367
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agen...	OMIM:308205
Tuberous Sclerosis 1	Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma	OMIM:191100
Listeriosis	Liver abscess, Jaundice, Peritonitis, Hepatic granulomatosis, Cholecystitis, Splenic abscess	ORPHA:533
Tetrasomy 9P	Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Hypoplastic scapulae, Cr...	ORPHA:3310
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Conductive hearing impairment, Clinodactyly of the 5th finger, Atre...	ORPHA:1393
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Optic nerve dysplasia, Hydronephrosis, Opacification of the corneal...	OMIM:615287
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive	OMIM:602522
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Optic atrophy, Buphthalmos, EEG abnormality, Hypoplasia of the retina, Opacification of...	OMIM:253280
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Optic atrophy, Hematuria, Multiple renal cysts, Renal ang...	ORPHA:538
Kawasaki Disease	Jaundice, Hepatitis, Cholecystitis	ORPHA:2331
Alström Syndrome	Portal hypertension, Drusen, Short toe, Dilated cardiomyopathy, Insulin resistance, Myocardial fi...	ORPHA:64
Pallister-Killian Syndrome	Small scrotum, Congenital hip dislocation, Flexion contracture, Renal cyst, Camptodactyly of 2nd-...	OMIM:601803
Pmm2-Cdg	Osteopenia, Joint laxity, Failure to thrive, Cataract, Multiple joint contractures, Proteinuria, ...	ORPHA:79318
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Vascular Ehlers-Danlos Syndrome	Inguinal hernia, Congenital hip dislocation, Abnormal heart valve morphology, Telangiectasia of t...	ORPHA:286
Attenuated Familial Adenomatous Polyposis	Uterine leiomyoma, Multiple renal cysts	ORPHA:220460
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Tinnitus, Opacification of the corneal stroma, Hearing impairment	ORPHA:79280
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia	OMIM:619482
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Failure to thrive	OMIM:618426
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Single ...	OMIM:157170

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Liver - MPATH pathological process term hyperplasia	Atp8b1^em1(IMPC)Tcp	HOM		Late adult
Liver - MPATH pathological process term regeneration	Atp8b1^em1(IMPC)Tcp	HOM		Late adult

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 Atp8b1.

No publications found that use IMPC mice or data for Atp8b1.

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

MGI Allele	Allele Type	Produced
Atp8b1^em1(IMPC)Tcp	Exon Deletion	Mice, Tissue
Atp8b1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Atp8b1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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: Atp8b1 MGI:1859665

Gene Summary

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lacZ Expression

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Human diseases caused by Atp8b1 mutations

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