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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
anophthalmia	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	0.00
improved glucose tolerance	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	2.14×10^-11
decreased prepulse inhibition	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased circulating HDL cholesterol level	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	4.01×10^-07
abnormal epididymis morphology	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	0.00
decreased mean corpuscular volume	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	9.78×10^-05
decreased erythrocyte cell number	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	9.51×10^-05
enlarged kidney	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	0.00
small seminal vesicle	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased circulating triglyceride level	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	9.00×10^-22
increased leukocyte cell number	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	6.76×10^-06
increased circulating potassium level	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	4.85×10^-10
decreased hemoglobin content	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	4.19×10^-10
abnormal startle reflex	Atp8b1^em1(IMPC)Tcp	HOM	Middle aged adult	4.90×10^-08
abnormal startle reflex	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	5.02×10^-10
decreased hematocrit	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	2.92×10^-05
abnormal eye morphology	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	0.00
decreased grip strength	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	6.12×10^-06
decreased erythrocyte cell number	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	5.54×10^-05
polycystic kidney	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased circulating glucose level	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	4.63×10^-17
abnormal bone structure	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	5.82×10^-09
abnormal bone structure	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	6.00×10^-07
small seminal vesicle	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	0.00
long tibia	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	4.81×10^-05
decreased mean corpuscular hemoglobin	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	3.84×10^-07
decreased exploration in new environment	Atp8b1^em1(IMPC)Tcp	HOM	Middle aged adult	9.99×10^-12
increased circulating alanine transaminase level	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	2.41×10^-05
decreased bone mineral content	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	1.90×10^-20
decreased hemoglobin content	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	1.57×10^-05
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	4.82×10^-24
abnormal startle reflex	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	9.86×10^-05
abnormal optic disk morphology	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	2.07×10^-05
increased circulating alkaline phosphatase level	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	4.10×10^-08
decreased startle reflex	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	6.12×10^-05
enlarged spleen	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	0.00
decreased total body fat amount	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	1.17×10^-18
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	2.41×10^-05
decreased bone mineral density	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	5.66×10^-11
decreased bone mineral content	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	2.38×10^-16
increased grip strength	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	5.54×10^-09
polycystic kidney	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	0.00
corneal opacity	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	2.32×10^-06
abnormal liver morphology	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	0.00
persistence of hyaloid vascular system	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	6.05×10^-05
increased lean body mass	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	8.49×10^-22
abnormal auditory brainstem response	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	1.22×10^-09
long tibia	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	5.57×10^-05
decreased heart weight	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	2.93×10^-06
decreased fasting circulating glucose level	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	4.31×10^-08
decreased bone mineral density	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	1.45×10^-17
decreased heart rate	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	9.44×10^-06
enlarged urinary bladder	Atp8b1^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased hematocrit	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	3.40×10^-08
prolonged RR interval	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	6.29×10^-05
abnormal retina blood vessel morphology	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	7.79×10^-06
increased circulating bilirubin level	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	1.11×10^-05
abnormal pancreas morphology	Atp8b1^em1(IMPC)Tcp	HOM	Late adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Slit Lamp

24 Images

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Eye Morphology

Images Ophthalmoscopy

93 Images

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Gross Pathology and Tissue Collection

Images

12 Images

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Eye Morphology

Images Ophthalmoscopy

105 Images

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Eye Morphology

Images Slit Lamp

121 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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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

31 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 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 Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

16 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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Electrocardiogram (ECG)

Waveform Image

2 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 (1802 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, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit...	OMIM:243300
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Intrahepatic Cholestasis Of Pregnancy	Jaundice, Elevated circulating hepatic transaminase concentration, Increased serum bile acid conc...	ORPHA:69665
Cholestasis, Intrahepatic, Of Pregnancy, 1	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Abno...	OMIM:147480

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

Disease	Matching phenotypes	Source
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Elevated circul...	OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Increased serum bile acid concentration, Elevated circulating alanine aminotransfer...	OMIM:619874
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Crigler-Najjar Syndrome, Type Ii	Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-...	OMIM:606785
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response	OMIM:617028
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials...	OMIM:609129
Hypervalinemia And Hyperleucine-Isoleucinemia	Hypervalinemia, Hyperleucinemia, Elevated circulating alanine aminotransferase concentration, Hyp...	OMIM:618850
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses	OMIM:601071
Biliary Atresia, Extrahepatic	Cirrhosis, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:210500
Glycogen Storage Disease Vi	Hypertriglyceridemia, Postnatal growth retardation, Hepatomegaly, Elevated circulating hepatic tr...	OMIM:232700
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Portal fibrosis, Hypertyrosinemia,...	OMIM:605814
Dubin-Johnson Syndrome	Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia	OMIM:237500
Crigler-Najjar Syndrome Type 2	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper...	OMIM:214900
Crigler-Najjar Syndrome, Type I	Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia	OMIM:218800
Gilbert Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic failure, Unconjugated ...	OMIM:143500
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Bile Acid Synthesis Defect, Congenital, 5	Increased total iron binding capacity, Jaundice, Increased serum bile acid concentration, Hepatom...	OMIM:616278
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, J...	OMIM:235555
Deafness, Autosomal Dominant 75	Sensorineural hearing impairment, Abnormal cochlea morphology	OMIM:618778
Deafness, Autosomal Recessive 104	Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit...	OMIM:616515
Rotor Syndrome	Jaundice, Abnormal circulating enzyme concentration or activity, Hyperbilirubinemia, Intermittent...	ORPHA:3111
Opticocochleodentate Degeneration	Hearing impairment, Optic atrophy, Cochlear degeneration	OMIM:258700
Deafness, Autosomal Dominant 87	Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II	OMIM:620281
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Jaundice, Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Bile Acid Conjugation Defect 1	Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h...	OMIM:619232
Edinburgh Malformation Syndrome	Failure to thrive, Jaundice, Neonatal hyperbilirubinemia	OMIM:129850
Hepatic Veno-Occlusive Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w...	ORPHA:890
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal...	ORPHA:79234
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Shor...	OMIM:614480
Combined Low Ldl And Fibrinogen	Decreased LDL cholesterol concentration, Elevated circulating aspartate aminotransferase concentr...	OMIM:620364
Deafness, Autosomal Dominant 9	Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo...	OMIM:601369
Hypercholanemia, Familial, 2	Prolonged neonatal jaundice, Increased serum bile acid concentration, Unconjugated hyperbilirubin...	OMIM:619256
Hyperbilirubinemia, Rotor Type	Jaundice, Conjugated hyperbilirubinemia	OMIM:237450
Congenital Bile Acid Synthesis Defect Type 2	Postnatal growth retardation, Steatorrhea, Jaundice, Elevated circulating hepatic transaminase co...	ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosph...	OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia, Jaundice, Splenomegaly, Hepatomegaly	OMIM:237800
Spinocerebellar Ataxia, Autosomal Recessive 3	Hearing impairment, Cochlear degeneration	OMIM:271250
Deafness, Autosomal Dominant 44	Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti...	OMIM:607453
Deafness, Autosomal Dominant 86	Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti...	OMIM:620280
Cochleosaccular Degeneration-Cataract Syndrome	Cochlear degeneration, Progressive sensorineural hearing impairment	ORPHA:3233
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera...	ORPHA:79302
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly	OMIM:179700
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transam...	OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir...	OMIM:618528
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, ...	OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Elevated circu...	OMIM:619484
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit...	OMIM:243300
Deafness, Autosomal Dominant 77	Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus	OMIM:618915
Bile Acid Synthesis Defect, Congenital, 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Intrahepatic cholestasis, ...	OMIM:214950
Galactosemia Iv	Prolonged neonatal jaundice, Hypergalactosemia, Hepatomegaly	OMIM:618881
Malaria	Acute kidney injury, Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubi...	ORPHA:673
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti...	OMIM:618013
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly	OMIM:619175
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis, Congenital hip dislocation, Flattened femoral head, Delayed femoral head ossificati...	ORPHA:168621
Phosphoserine Phosphatase Deficiency	Hyposerinemia, Postnatal growth retardation, Intrauterine growth retardation	OMIM:614023
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia	Increased circulating lactate dehydrogenase concentration, Elevated circulating hepatic transamin...	OMIM:310490
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin, Elevated circulating alkaline phosphatase concentration, Ascites, Poly...	OMIM:174050
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Reduced erythrocyte glutathione reductase activity	OMIM:618660
Galactose Mutarotase Deficiency	Decreased liver function, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hy...	ORPHA:570422
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Eleva...	OMIM:616860
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, N...	OMIM:608836
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Hyperalaninemia, El...	OMIM:619048
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating S-adenosyl-L-homocysteine concentration, Portal fibrosis, Hyperbilirubinemia...	OMIM:614300
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Jaundice, Reduced haptoglobin level, Cholelithiasis, Reduced red cell pyruvate kina...	OMIM:266200
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Postnatal growth retardation, Jaundice, Intrahepatic cholestasis, Eleva...	OMIM:617093
Isolated Polycystic Liver Disease	Increased total bilirubin, Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease	ORPHA:2924
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Charcot-Marie-Tooth Disease, Type 4B1	Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials	OMIM:601382
Cholestasis, Progressive Familial Intrahepatic, 5	Cirrhosis, Jaundice, Ascites, Elevated circulating alanine aminotransferase concentration, Hypera...	OMIM:617049
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Elevated circulating hepatic transaminase concentration, Decreased circ...	OMIM:616829
Infantile Sialic Acid Storage Disease	Osteopenia, Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic sy...	OMIM:269920
Isolated Biliary Atresia	Decreased liver function, Xanthelasma, Cirrhosis, Jaundice, Elevated circulating hepatic transami...	ORPHA:30391
Odontochondrodysplasia 1	Nephronophthisis, Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of...	OMIM:184260
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Anemia, Intention tremor, Erlenmeyer flask deformity of the femurs, Spl...	OMIM:610539
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con...	ORPHA:158057
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Abnormality of ...	ORPHA:234
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Clubbing, Flared iliac wing, Bone marrow hypocellularity, Leukopenia, Splenomega...	OMIM:617303
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, H...	OMIM:617156
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Bradycardia, Hyperalaninemia, Ascites, Hypertrophic cardiomyopathy, Hyperammonemia...	OMIM:614702
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Cholestasis, Renal cortical microcysts, Splenomegaly, Heart murmur, Optic n...	OMIM:614866
Glycogen Storage Disease Ib	Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, E...	OMIM:232220
Winchester Syndrome	Carpal osteolysis, Corneal opacity, Broad metacarpals, Generalized osteoporosis, Osteolysis invol...	OMIM:277950
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced erythrocyte hexokinase activi...	OMIM:235700
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Short stature, Failure to thrive, Splenomegaly	ORPHA:172
Optic Atrophy 8	Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,...	OMIM:616648
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Unconjugated hyperbilirubinemia, Reticulocytosis, Circulating nu...	OMIM:613673
Meckel Syndrome, Type 8	Polydactyly, Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Low-set ...	OMIM:613885
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Polycystic kidney dysplasia,...	OMIM:214110
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Gracile Syndrome	Increased serum pyruvate, Cholestasis, Increased circulating iron concentration, Intrauterine gro...	OMIM:603358
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro...	OMIM:251880
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced...	OMIM:617610
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope...	OMIM:615285
Congenital Disorder Of Glycosylation, Type Il	Atrial septal defect, Hepatomegaly, Polycystic kidney dysplasia, Ascites, Pericardial effusion, F...	OMIM:608776
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Hypogonadism, Neonatal hyperbilirubinemia,...	ORPHA:3363
H Syndrome	Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Abnormal cardi...	ORPHA:168569
Glycogen Storage Disease Xii	Delayed puberty, Jaundice, Reduced haptoglobin level, Hepatomegaly, Cholelithiasis, Decreased ery...	OMIM:611881
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hypoketotic hypoglycemia, Myoglobinuria, Red-brown urine, Hype...	ORPHA:228308
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ...	ORPHA:69663
Liver Failure, Infantile, Transient	Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos...	OMIM:613070
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Abn...	ORPHA:2370
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Redu...	OMIM:306000
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration, Hepatomeg...	OMIM:602347
Galactosemia Iii	Jaundice, Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly, Decreased beta-galact...	OMIM:230350
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent...	ORPHA:64743
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Hypoketotic hypoglycemia, Myoglobinuria, Polycys...	ORPHA:157
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Harderoporphyria	Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Neonatal hyperbilirubinemia, Increased c...	OMIM:618892
Femoral-Facial Syndrome	Abnormal fibula morphology, Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Mi...	ORPHA:1988
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir...	ORPHA:766
Carnitine-Acylcarnitine Translocase Deficiency	Irritability, Neonatal hypoglycemia, Dicarboxylic aciduria, Hepatomegaly, Elevated circulating he...	OMIM:212138
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration...	ORPHA:369
Mitochondrial Complex I Deficiency, Nuclear Type 13	Irritability, Hepatomegaly, Bradycardia, Decreased circulating carnitine concentration, Cardiac a...	OMIM:618235
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age, Microphthalmia, Hepatomegaly, Microcornea, Corneal opacity	ORPHA:2432
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal hemoglobin	ORPHA:3319
Gallbladder Disease 1	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho...	OMIM:600803
Intrahepatic Cholestasis Of Pregnancy	Jaundice, Elevated circulating hepatic transaminase concentration, Increased serum bile acid conc...	ORPHA:69665
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hepatocellular adenoma, Tubulointerstitial fi...	ORPHA:79259
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Congestive heart failure, Glutaric aciduria, Hepatomegaly, Elevated cir...	ORPHA:26791
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Postnatal growth retardation, Cirrhosis, Hepatomegaly, Elevated circulating...	OMIM:613027
Glycogen Storage Disease Ia	Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, F...	OMIM:232200
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Osteopetrosis, Stage 3 chronic kidney disease, Anemia, Increased bone mineral densi...	OMIM:620366
Tyrosinemia, Type I	Enlarged kidney, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentra...	OMIM:276700
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Jaundice, Tubular luminal dilatation, Cirrhosis, Elevated circulating hepatic tr...	OMIM:619902
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating alanine aminotransferase c...	OMIM:613752
Wolcott-Rallison Syndrome	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Ascites, Hyperammonemia, ...	ORPHA:1667
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Osteopenia, Hyperinsulinemia, Hepatomegaly, Prolonged QT interval, Elevated...	OMIM:613327
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration	OMIM:602114
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Macular dystrophy, Progressive psychomotor deterioration, Abnormal retinal morph...	ORPHA:251004
Osteopetrosis, Autosomal Recessive 5	Ascites, Splenomegaly, Optic atrophy, Irritability, Cranial hyperostosis, Pancytopenia, Hypocalce...	OMIM:259720
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration, Hepa...	OMIM:614859
Fetal Cytomegalovirus Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splenomegaly, Co...	ORPHA:294
Mirage Syndrome	Rocker bottom foot, Leukopenia, Lymphopenia, Hypospadias, Hyponatremia, Radial club hand, Recurre...	OMIM:617053
Glycogen Storage Disease Iv	Cirrhosis, Bradycardia, Tubulointerstitial fibrosis, Cardiomyopathy, Ascites, Portal hypertension...	OMIM:232500
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Polycy...	OMIM:610199
Autosomal Recessive Spastic Paraplegia Type 44	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok...	ORPHA:320401
Lipoyltransferase 1 Deficiency	Decreased liver function, Elevated circulating hepatic transaminase concentration, Increased tota...	OMIM:616299
Deafness, X-Linked 2	Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm...	OMIM:304400
Aceruloplasminemia	Cognitive impairment, Aceruloplasminemia, Decreased circulating iron concentration, Decreased cir...	ORPHA:48818
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase II, Hyperbilirubinemia, Increased ...	OMIM:224120
Kaposiform Lymphangiomatosis	Enlarged kidney, Abnormal femur morphology, Abnormal spleen morphology, Lymphangioma, Epistaxis, ...	ORPHA:464329
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment	OMIM:619553
Mulibrey Nanism	Short stature, Cachexia, Hepatomegaly, Intrauterine growth retardation	ORPHA:2576
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Hypermanganesemia With Dystonia 1	Decreased liver function, Cirrhosis, Increased total iron binding capacity, Elevated circulating ...	OMIM:613280
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia...	ORPHA:79301
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Bilateral Striopallidodentate Calcinosis	Corneal opacity, Hepatomegaly, Thrombocytopenia	ORPHA:1980
Glycogen Storage Disease Vii	Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating aldolase concentration, Reduced mus...	OMIM:232800
Roberts Syndrome	Clitoral hypertrophy, Radial deviation of finger, Mesomelic arm shortening, Proximal placement of...	ORPHA:3103
Spherocytosis, Type 1	Hyperbilirubinemia, Jaundice, Splenomegaly, Cholelithiasis	OMIM:182900
Cholestasis, Intrahepatic, Of Pregnancy, 1	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Abno...	OMIM:147480
Diarrhea 13	Hypoalbuminemia, Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase ...	OMIM:620357
Fanconi-Bickel Syndrome	Postnatal growth retardation, Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid c...	OMIM:227810
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Decreased liver function, Elevated circulating hepatic transaminase concentration, Elevated circu...	OMIM:615160
Wilson Disease	Portal fibrosis, Ascites, Limb dystonia, Acute hepatic failure, Splenomegaly, High nonceruloplasm...	OMIM:277900
Distal Triplication 15Q	Large for gestational age, Abnormality of the kidney, Cupped ear, Polycystic kidney dysplasia, Ab...	ORPHA:314588
Pendred Syndrome	Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation	OMIM:274600
Sialidosis Type 2	Hepatomegaly, Tremor, Corneal opacity, Osteoporosis, Hearing impairment, Splenomegaly, Flexion co...	ORPHA:87876
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Hypomethioninemia, Neutropenia, Acute kidney injury, Hemolytic-uremic syndrome, Cyst...	OMIM:277400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Joint stiffness, Bone marrow hypocellularity, Abnormal heart morphology, Leukope...	ORPHA:505248
Glycogen Storage Disease Iii	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced muscle glycogen de...	OMIM:232400
Hemochromatosis, Neonatal	Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hepatocellular necrosis, Prolonged neona...	OMIM:231100
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Congenital diaphragmatic hernia, Periportal fibrosis, Polycystic ki...	OMIM:263210
Beta-Thalassemia	Irritability, Abnormality of iron homeostasis, Hepatomegaly, Anemia, Cholelithiasis, Reduced bone...	ORPHA:848
Bardet-Biedl Syndrome 16	Polydactyly, External genital hypoplasia, Renal cyst, Cognitive impairment, Renal agenesis, Retin...	OMIM:615993
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia, Obesity, Decreased circulating cortisol level, Cholestasis	OMIM:609734
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Trisomy 13	Optic atrophy, Microphthalmia, Anophthalmia, Abnormal antihelix morphology, Sensorineural hearing...	ORPHA:3378
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Congenital hem...	ORPHA:3202
Hyperbiliverdinemia	Decreased liver function, Elevated circulating biliverdin concentration, Cholestasis, Cholelithiasis	OMIM:614156
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Cholelithiasis, Normochromic anemia, Bradycardia, Elevated circulat...	OMIM:618775
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney...	OMIM:615382
Branchiootic Syndrome 1	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf...	OMIM:602588
Deafness, Autosomal Dominant 80	Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con...	OMIM:619274
Beta-Thalassemia Intermedia	Decreased liver function, Reduced bone mineral density, Proximal tubulopathy, Anemia of inadequat...	ORPHA:231222
Ravine Syndrome	Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials	ORPHA:99852
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Growth delay, Splenomegaly, Weight loss	ORPHA:79238
Microphthalmia With Limb Anomalies	Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hy...	OMIM:206920
Bardet-Biedl Syndrome 10	Polydactyly, Renal cyst, Obesity, Hypogonadism, Renal insufficiency	OMIM:615987
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased circu...	OMIM:613313
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Osteolysis involving bones of the lo...	ORPHA:464321
Wolman Disease	Hepatomegaly, Reduced lysosomal acid lipase activity, Failure to thrive, Acute hepatic failure, S...	OMIM:620151
Dietary Iron Overload Disease	Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H...	ORPHA:139507
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Jaundice, Hepatomega...	OMIM:267700
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Abnormality of bone mineral density, Corneal opacity, Synostosis of ca...	ORPHA:2741
Relapsing Fever	Acute kidney injury, Jaundice, Hematuria, Anemia, Elevated circulating C-reactive protein concent...	ORPHA:91547
Mody	Hepatocellular adenoma, Retinopathy, Transient neonatal diabetes mellitus, Elevated hemoglobin A1...	ORPHA:552
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Elevated circulating creatinine concentration, Jaundice, Hepatomegaly, Hy...	OMIM:613095
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia...	OMIM:613404
Idiopathic Congenital Hypothyroidism	Bradycardia, Delayed proximal femoral epiphyseal ossification, Prolonged neonatal jaundice, Neona...	ORPHA:95717
Mucolipidosis Type Iii	Reduced bone mineral density, Abnormal hip bone morphology, Craniofacial hyperostosis, Large ilia...	ORPHA:577
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El...	ORPHA:562639
Deafness, X-Linked 5, With Peripheral Neuropathy	Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,...	OMIM:300614
Caroli Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Intrahepatic choles...	ORPHA:480520
Glycogen Storage Disease Ixb	Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia, Growth delay, Short stature, Spl...	OMIM:261750
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Renal Hypoplasia, Bilateral	Hyperkalemia, Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Hypertension, ...	ORPHA:97362
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating hepatic transaminase c...	ORPHA:14
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Increased circulating...	OMIM:278000
Spherocytosis, Type 4	Hyperbilirubinemia, Jaundice, Splenomegaly	OMIM:612653
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Ascite...	OMIM:615710
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Increased serum bile acid concentration, Hyperbilirubinemia, Elevated c...	OMIM:619685
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:615158
Timothy Syndrome	Prolonged QT interval, Bradycardia, Hypocalcemia, Patent foramen ovale, Ventricular septal defect...	OMIM:601005
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Proximal placement of thumb, Anophthalmia, Finger syndactyly, Sensorineural heari...	ORPHA:139471
Brachyolmia Type 1, Hobaek Type	Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabu...	OMIM:271530
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Intrahepatic ...	OMIM:208085
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Metacarpal osteolysis, Carpal osteolysis, Ulnar deviation of the hand or of fingers o...	OMIM:166300
Chromosome Xq21 Deletion Syndrome	Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ...	OMIM:303110
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hyperbilirubinemia, Decr...	OMIM:614886
Corneal Dystrophy-Perceptive Deafness Syndrome	Sensorineural hearing impairment, Corneal dystrophy, Corneal opacity	ORPHA:1490
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa...	ORPHA:75234
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Hepatomega...	OMIM:607616
Protoporphyria, Erythropoietic, X-Linked	Increased erythrocyte protoporphyrin concentration, Elevated circulating hepatic transaminase con...	OMIM:300752
Cog7-Cdg	Postnatal growth retardation, Jaundice, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79333
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, Splenomegaly	OMIM:185000
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Sandal gap, Premature ventricular contraction, Umbilica...	OMIM:300855
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating alanine am...	OMIM:614727
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Bradycardia, Impaired glucos...	OMIM:614407
Dominant Beta-Thalassemia	Splenomegaly, Decreased mean corpuscular volume, High-output congestive heart failure, Irritabili...	ORPHA:231226
Peroxisome Biogenesis Disorder 13A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Intrahepatic cholestasis, Jaundic...	OMIM:614887
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Hypoplastic pelvis, P...	OMIM:208500
Wolfram-Like Syndrome, Autosomal Dominant	Optic atrophy, Depression, Impaired glucose tolerance, Type II diabetes mellitus, Diabetes mellit...	OMIM:614296
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus, Multiple renal cysts	DECIPHER:47
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Isosexual precocious puberty, Microphthalmia, Abnormal femoral neck/head morphology, ...	ORPHA:2788
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Short long bone, Flat acetabular roof, Flared iliac wing, Splenomegaly, Bullet-s...	OMIM:252500
Lathosterolosis	Bilobate gallbladder, 2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Intrahepatic ch...	OMIM:607330
Usher Syndrome Type 1	Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortic...	ORPHA:231169
Mirizzi Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ...	ORPHA:521219
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Bradycardia, Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopath...	OMIM:618815
Systemic Primary Carnitine Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:158
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul...	OMIM:603471
Rhyns Syndrome	Osteopenia, Nephronophthisis, Abnormal long bone morphology, Small epiphyses, Hypoplastic ilia, H...	ORPHA:140976
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Retinal dystrophy, Myoglobinuria, Hyperbilirubinemia, Tremor, Reticulocytosis, Decreased hemoglob...	ORPHA:713
Hardikar Syndrome	Hematemesis, Decreased liver function, Elevated circulating hepatic transaminase concentration, I...	OMIM:301068
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Microphthalmia, Hepatomegaly, Anemia, Sensorineural hearing impai...	ORPHA:290
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Irritability, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopeni...	OMIM:603553
Beta-Thalassemia Major	Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, High-output con...	ORPHA:231214
Senior-Boichis Syndrome	Tubular luminal dilatation, Elevated circulating hepatic transaminase concentration, Hypertension...	ORPHA:84081
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Gastrointestinal hemorrhage, Hypertension, Cholestasis, Ascites, Cognitive impai...	ORPHA:731
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Cockayne Syndrome Type 1	Optic atrophy, Abnormality of peripheral nerve conduction, Hepatomegaly, Anemia, Foot joint contr...	ORPHA:90321
Sickle Cell Anemia	Reticulocytosis, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, ...	ORPHA:232
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia, Iris coloboma	OMIM:611638
Usher Syndrome Type 3	Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology	ORPHA:231183
D-Glyceric Aciduria	Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Bradycardia, Optic ner...	OMIM:220120
Hyperparathyroidism 2 With Jaw Tumors	Renal cortical adenoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Polycystic kidney dyspl...	OMIM:145001
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c...	OMIM:602088
Bardet-Biedl Syndrome 4	Polydactyly, Abnormality of the kidney, External genital hypoplasia, Renal cyst, Obesity, Syndact...	OMIM:615982
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Jaundice, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polyc...	OMIM:231680
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Glucose intolerance, Cardiomyopathy, Impaired glucose tolerance,...	OMIM:606069
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Deafness-Hypogonadism Syndrome	Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma...	ORPHA:90646
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Hyperammonemia, Failure to thr...	ORPHA:79312
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Retinal degeneration, Bradycardia	OMIM:617173
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Mildly elevated creatine kinase, Bradycardia	OMIM:620265
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Enlarged kidney, Fibular hypoplasia, Preaxial polydactyly, Polycystic kid...	OMIM:613091
Mohr-Tranebjaerg Syndrome	Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp...	ORPHA:52368
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi...	ORPHA:95715
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Neuroleptic Malignant Syndrome	Urinary incontinence, Elevated circulating hepatic transaminase concentration, Oculogyric crisis,...	ORPHA:94093
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Hemolytic-uremic syndrome, Macrocytic anemia, Hyperhomocystinemia, Pancytopenia, ...	ORPHA:2169
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Impaired glucose tol...	OMIM:610947
Hemochromatosis, Type 1	Congestive heart failure, Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly, ...	OMIM:235200
Short Chain Acyl-Coa Dehydrogenase Deficiency	Optic atrophy, Ketotic hypoglycemia, Cardiomyopathy, Ethylmalonic aciduria, Failure to thrive, In...	ORPHA:26792
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Normochromic anemia, Hypertension, Cardiomyopathy, Cognitive impairm...	ORPHA:247691
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Clinodactyly of the 5th finger, Small for gestational age, Short attention span, Osteoporosis, Fa...	ORPHA:73272
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Rocker bottom foot, Optic nerve hypoplasia, Corneal opacity, Leukopenia, Craniosynostosis, Coxa v...	OMIM:301056
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis	OMIM:614844
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Spherocytosis, Type 2	Hyperbilirubinemia, Jaundice, Splenomegaly	OMIM:616649
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Multiple renal cysts, Spl...	ORPHA:116
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Hypospadias, Polycystic kidney dysplasia, Short long bone, Flat acetabular roof, Bow...	OMIM:614091
Alpha-Mannosidosis	Chronic otitis media, Hepatomegaly, Craniofacial hyperostosis, Arthritis, Abnormal helix morpholo...	ORPHA:61
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol...	OMIM:263200
Cholestasis, Intrahepatic, Of Pregnancy 3	Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration during pregnancy, Abn...	OMIM:614972
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Corneal neovascularization, Hypertensive crisis, Multiple suture cra...	ORPHA:567
Galactosemia I	Increased level of galactitol in red blood cells, Decreased liver function, Cirrhosis, Hepatomega...	OMIM:230400
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly	OMIM:609016
Syndromic Diarrhea	Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic valve, Aortic regurgitation...	ORPHA:84064
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Elevate...	ORPHA:186
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic...	ORPHA:811
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Situs inversus totalis, Cardiomyopathy, Ventricular septal defect, Cryptorchidism,...	OMIM:249270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Microphthalmia, Hematuria, Sensorineural hearing impairment, Corneal opacity, Post...	ORPHA:1473
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t...	ORPHA:1802
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera...	ORPHA:2470
Peroxisome Biogenesis Disorder 8A (Zellweger)	Elevated circulating aspartate aminotransferase concentration, Jaundice, Hepatomegaly	OMIM:614876
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Reduced bone mineral density, Abnormal sex deter...	ORPHA:168558
Familial Thyroid Dyshormonogenesis	Bradycardia, Abnormal circulating thyroglobulin concentration, Delayed proximal femoral epiphysea...	ORPHA:95716
Graft Versus Host Disease	Irritability, Dupuytren contracture, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:39812
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Complex organic aciduria, T...	OMIM:557000
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Meckel Syndrome, Type 11	Polydactyly, Polycystic kidney dysplasia	OMIM:615397
Megaloblastic Anemia, Folate-Responsive	Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Increased circulat...	OMIM:601775
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Elevated circulating hepatic transaminase concentration, H...	ORPHA:98870
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Arima Syndrome	Tubulointerstitial fibrosis, Hypertension, Renal sodium wasting, Stage 5 chronic kidney disease, ...	OMIM:243910
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Reduced bone mineral density, Abnormal sex deter...	ORPHA:289548
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Microphthalmia, Syndromic 12	Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia	OMIM:615524
Necrotizing Enterocolitis	Shock, Abnormal glucose homeostasis, Bradycardia, Ascites, Leukocytosis, Hypotension, Hyponatremi...	ORPHA:391673
Reynolds Syndrome	Calcinosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Stea...	OMIM:613471
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Arrhyt...	ORPHA:57
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Galactosialidosis	Hearing impairment, Corneal opacity	ORPHA:351
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Hematuria, Anemia, Increased mean corpuscular volume, Hypertension, Ven...	OMIM:617021
Rh-Null, Regulator Type	Jaundice, Unconjugated hyperbilirubinemia	OMIM:268150
Squalene Synthase Deficiency	Irritability, Hypospadias, Knee flexion contracture, Slender long bone, Optic nerve hypoplasia, I...	OMIM:618156
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia, Depression, Abnormal circulating thyroglobulin concentration, Pituitary hypothyroidi...	ORPHA:90674
Trisomy 17P	Clinodactyly of the 5th finger, Hypoplasia of penis, Polycystic kidney dysplasia, Low-set ears, H...	ORPHA:261290
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Polycystic kidney dysplasia, 2-3 toe syndactyly, Micromelia, ...	OMIM:617866
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Cystic renal dysplasia, Hepatomegaly, Femoral bowing, Ch...	OMIM:615415
Addison Disease	Renal salt wasting, Hyperkalemia, Normocytic anemia, Primary testicular failure, Orthostatic hypo...	ORPHA:85138
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Short stature, Hepatosplenomegaly, Splenomegaly...	OMIM:612526
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Decreased circulating cortisol level, Abnormal l...	ORPHA:90791
Hijazi-Reis Syndrome	Postnatal growth retardation, Hyperbilirubinemia	OMIM:301094
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascit...	ORPHA:131
Birk-Landau-Perez Syndrome	Hyperkalemia, Optic atrophy, Stage 3 chronic kidney disease, Hypertension, Renal hypoplasia, Dyst...	OMIM:617595
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea...	OMIM:601820
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Portal hypertension, Biliary tract abnormality...	ORPHA:1414
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Cardi...	OMIM:212065
Aicardi-Goutieres Syndrome 9	Elevated circulating hepatic transaminase concentration, Hypertension, Ascites, Pericarditis, Lef...	OMIM:619487
Marburg Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Bradycardia, Reticulocytosis, Hyperammon...	ORPHA:99826
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Depression, Neurogenic bladder, Decreased body weight, Elevated circulating creati...	ORPHA:96180
Branchiootorenal Syndrome 1	Euthyroid goiter, Renal steatosis, Abnormal renal collecting system morphology, Mixed hearing imp...	OMIM:113650
Leprechaunism	Enlarged kidney, Clitoral hypertrophy, Nephrocalcinosis, Hyperaldosteronism, Labial hypertrophy, ...	ORPHA:508
Rh Deficiency Syndrome	Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Spherocytosis, Hypoch...	ORPHA:71275
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa...	ORPHA:276580
Hereditary Elliptocytosis	Postnatal growth retardation, Jaundice, Cholelithiasis, Hyperbilirubinemia, Prolonged neonatal ja...	ORPHA:288
Wolfram-Like Syndrome	Optic atrophy, Male hypogonadism, Glucose intolerance, Depression, Peripheral axonal neuropathy, ...	ORPHA:411590
Sepsis In Premature Infants	Decreased liver function, Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein...	ORPHA:90051
Bile Acid Malabsorption, Primary, 2	Steatorrhea, Decreased circulating chenodeoxycholic acid concentration, Periportal fibrosis, Elev...	OMIM:619481
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Hepatomegaly, Diffuse pancrea...	ORPHA:276575
Mitochondrial Myopathy, Infantile, Transient	Hepatomegaly, Decreased circulating carnitine concentration, Increased serum pyruvate, Elevated c...	OMIM:500009
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Hearing impairment, Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy	ORPHA:95433
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:301045
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Trichothiodystrophy 6, Nonphotosensitive	Increased bone mineral density, Microcornea, Bilateral sensorineural hearing impairment, Coronal ...	OMIM:616943
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Ascites, Leukopenia, Splenomegaly, Epistaxis, Diffuse alv...	ORPHA:99827
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Diaphanospondylodysostosis	Absent in utero rib ossification, Enlarged kidney, Hammertoe, Talipes equinovarus, Abnormal liver...	OMIM:608022
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Coenzyme Q10 Deficiency, Primary, 5	Dystonia, Hyperalaninemia, Bradycardia, Left ventricular hypertrophy	OMIM:614654
Alg12-Cdg	Abnormal bone ossification, Elevated circulating hepatic transaminase concentration, Proximal pla...	ORPHA:79324
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Reduced bone mineral density, Bone marrow hypocellulari...	OMIM:617052
Meckel Syndrome 13	Retinopathy, Polycystic kidney dysplasia, Flexion contracture	OMIM:617562
Campomelia, Cumming Type	Polycystic kidney dysplasia, Pancreatic cysts, Bowing of the long bones, Polysplenia	OMIM:211890
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Cholestasis, Hypot...	ORPHA:85445
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Bradycardia, Hypertrophic cardiomyopathy, Dystonia, Ventricular septal defect, Elevated urine 2,3...	OMIM:616277
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Decreased liver function, Elevated circulating he...	ORPHA:275761
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Portal fibrosis, Elevated circulating hepatic trans...	ORPHA:264580
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial...	OMIM:601596
Tetanus	Stiff neck, Bradycardia, Hypertension, Elevated urinary epinephrine level, Elevated urinary norep...	ORPHA:3299
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormal thumb morphology, Anemia, Sensorineural hearing impairment, Athetosis, Corneal opacity, ...	ORPHA:2719
Infantile Liver Failure Syndrome 3	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Sho...	OMIM:618641
Meckel Syndrome 14	Microphthalmia, Polycystic kidney dysplasia, Aplasia of the uterus, Postaxial hand polydactyly, B...	OMIM:619879
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Atrial septal defect, Anemia, Hypospadias, Hypocalcemia, Hyperbilirubinemia, ...	ORPHA:163979
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl...	OMIM:613490
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Reduced bone mineral density, Elevated circulating hepatic transaminase...	OMIM:613658
Polycystic Kidney Disease 7	Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic...	OMIM:620056
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Hypertension, Prol...	OMIM:210710
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Radial deviation of finger, Syndactyly, Splenomegaly, Clinodactyly, Cy...	OMIM:249000
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Congestive heart failure, Increased total bilirubin, Splenomegaly, T...	ORPHA:90037
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia, Decreased nerve conduction velocity, Leg dystonia, Congenital foot contrac...	ORPHA:565624
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Trisomy 1Q	Ambiguous genitalia, Small scrotum, Congenital megaureter, Anophthalmia, Low-set ears, Arachnodac...	ORPHA:261344
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract, Joint hypermobility,...	OMIM:610125
Perlman Syndrome	Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology, Inguinal hernia, Hypoplasia of peni...	ORPHA:2849
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Diffuse pancreatic islet hyperpla...	ORPHA:276556
Pearson Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocyt...	ORPHA:699
Wild Type Attr Amyloidosis	Congestive heart failure, Hepatomegaly, Renal insufficiency, Bradycardia, Atrial fibrillation, Ab...	ORPHA:330001
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Low-set ears, Renal cyst, Epiphyseal stippling	OMIM:614870
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent...	ORPHA:65682
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Joint stiffness, Splenomegaly, Cardiomegaly, Abnormal metacarpophalangeal joint m...	ORPHA:465508
Hajdu-Cheney Syndrome	Osteopenia, Genu valgum, Osteolytic defects of the phalanges of the hand, Hypospadias, Fibular bo...	OMIM:102500
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Cholelithiasis, Recurrent tonsillitis, Hypovolemic shock, Glucocortocoid-insensitiv...	ORPHA:171876
Hyperparathyroidism, Transient Neonatal	Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Inguinal he...	OMIM:618188
Alg9-Cdg	Narrow greater sciatic notch, Enlarged kidney, Abnormal bone ossification, Hypoplasia of the ovar...	ORPHA:79328
Walker-Warburg Syndrome	Optic atrophy, Protruding ear, Microphthalmia, Hypoplasia of penis, Anophthalmia, Microcornea, Co...	ORPHA:899
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia, Congenital hip dislocation	OMIM:164180
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration, Postnatal growth retardation	OMIM:615361
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Atrial flutter, Left bund...	ORPHA:439232
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Abnormal finger morphology, Oligodactyly, Aplastic clav...	ORPHA:2538
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Bachmann-Bupp Syndrome	Large for gestational age, Clinodactyly of the 5th finger, Hyperbilirubinemia, Attention deficit ...	OMIM:619075
Familial Glucocorticoid Deficiency	Renal salt wasting, Hypoglycemic seizures, Hyperkalemia, Azoospermia, Ketotic hypoglycemia, Recur...	ORPHA:361
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Facial palsy, Hypertrophic cardiomyopathy, Dilated cardi...	OMIM:601419
Erythrokeratodermia Variabilis	Protruding ear, Corneal opacity, Abnormal testis morphology, Hearing impairment, Brachydactyly, W...	ORPHA:317
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Increased blood urea nitrogen, Failure to thrive, Elevated circulating creatinine c...	OMIM:617872
Meckel Syndrome	Microphthalmia, Ureteral duplication, Pancreatic fibrosis, Optic atrophy, Low-set, posteriorly ro...	ORPHA:564
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu...	OMIM:614582
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Corne...	OMIM:609465
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Bradycardia, Depression, Sensory axonal neuropathy, Cardiomyopathy, Arrhythmia, Hypogonadism, Dem...	OMIM:609286
Lujo Hemorrhagic Fever	Myocarditis, Stiff neck, Elevated circulating hepatic transaminase concentration, Elevated circul...	ORPHA:319213
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Cardiomeg...	OMIM:619064
Chronic Atrial And Intestinal Dysrhythmia	Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, D...	OMIM:616201
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Fla...	OMIM:259700
Trimethylaminuria	Trimethylaminuria, Anemia, Depression, Hypertension, Splenomegaly, Tachycardia, Neutropenia	OMIM:602079
Congenital Disorder Of Glycosylation, Type Ie	Optic atrophy, Ankle flexion contracture, Hepatomegaly, Elevated circulating hepatic transaminase...	OMIM:608799
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Hearing impairment, Sclerocornea,...	ORPHA:77298
Fructose-1,6-Bisphosphatase Deficiency	Irritability, Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:348
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki...	ORPHA:2237
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Renal salt wasting, Hyperkalemia, Precocious puberty, Hyponatremia, Failure to thrive, Decreased ...	OMIM:614736
Abcd Syndrome	Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ...	OMIM:600501
3-Methylglutaconic Aciduria, Type V	Optic atrophy, 3-Methylglutaconic aciduria, Congestive heart failure, Atrial septal defect, Prolo...	OMIM:610198
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Unilateral renal agenesis, Testicular seminoma, Corneal opacity, Hypogonadism, Cr...	ORPHA:281090
Propionic Acidemia	Hyperammonemia, Hepatomegaly, Propionyl-CoA carboxylase deficiency	ORPHA:35
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati...	OMIM:618549
Glut1 Deficiency Syndrome 2	Irritability, Reduced haptoglobin level, Tremor, Reticulocytosis, Dystonia, Splenomegaly, Choreoa...	OMIM:612126
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Renal tubular dysfunction, Hyperammonemia, Dys...	ORPHA:289916
Hemochromatosis, Type 2A	Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Arthritis, Cardiomyopathy, Increa...	OMIM:602390
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Ascites, Biliary...	OMIM:619534
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Aplasia/Hypoplasia of metatarsal bones, Recurrent otitis media, Flared metaphysis, Narrow iliac w...	ORPHA:2502
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Acute Adrenal Insufficiency	Renal salt wasting, Hyperkalemia, Normocytic anemia, Orthostatic hypotension, Hyperuricemia, Hypo...	ORPHA:95409
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circula...	ORPHA:449395
Fumarase Deficiency	Optic atrophy, Bilateral fetal pyelectasis, Intrahepatic cholestasis, Perimembranous ventricular ...	OMIM:606812
Vitamin B12-Unresponsive Methylmalonic Acidemia	Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Hyperammone...	ORPHA:27
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Sensorineural hearing impairment, EEG abnormality, Facial palsy, Absent brainstem auditory responses	OMIM:617519
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Neonatal hypoglycemia, Enlarged kidney, Bradycardia, ST segment elevati...	OMIM:261740
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic...	ORPHA:3344
Sheehan Syndrome	Breast hypoplasia, Orthostatic hypotension, Normochromic anemia, Bradycardia, Hyposthenuria, Redu...	ORPHA:91355
Degcags Syndrome	Cholestasis, Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Syndactyly, Congenital hy...	OMIM:619488
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Hypsarrhythmia, Prominent ear helix, Large earlobe, Multifocal epileptiform discharges	ORPHA:411986
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Short stature, Growth delay, Splenomegaly, Conjugated hyper...	OMIM:608885
Dilated Cardiomyopathy With Ataxia	Optic atrophy, 3-Methylglutaconic aciduria, Neonatal hypoglycemia, Muscular ventricular septal de...	ORPHA:66634
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	ORPHA:2394
Gracile Syndrome	Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In...	ORPHA:53693
Hsd10 Mitochondrial Disease	Optic atrophy, Hypertrophic cardiomyopathy, Retinal degeneration, Progressive neurologic deterior...	OMIM:300438
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Aplasia of the uterus, Corneal opacity, Broad thumb, Bilate...	OMIM:274000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbi...	OMIM:300908
Albers-Schönberg Osteopetrosis	Abnormal metaphysis morphology, Optic atrophy, Genu valgum, Anemia, Abnormal metacarpal morpholog...	ORPHA:53
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval...	ORPHA:60041
Microphthalmia With Limb Anomalies	Microphthalmia, Sandal gap, Short long bone, Tibial bowing, Broad thumb, Joint hypermobility, Hip...	ORPHA:1106
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Congestive heart failure, Retinal dystrophy, Megaloblastic anemia, Cardiac arrest,...	ORPHA:49827
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Isothenuria, Hypokalemia, Reticulocytosis, Failure to thrive, Nephrocalcinosis, Hepatosp...	OMIM:611590
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Heart block, Elevated circulating hepatic transaminase concentration, Reduce...	ORPHA:542323
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Ascites, Erlenmeyer flask deformity of the femurs, Leuko...	ORPHA:77259
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Bradycardia...	ORPHA:40366
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Fasting hypoglycem...	ORPHA:79240
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Attention deficit hyperactivity disorder, Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Acrorenal-Mandibular Syndrome	Unicornuate uterus, Split foot, Hip dislocation, Hypoplasia of the ulna, Hypoplasia of the radius...	OMIM:200980
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Reduced circulating alp...	ORPHA:60
Glutamine Deficiency, Congenital	Bradycardia, Camptodactyly, Micromelia, Hyperammonemia, Flexion contracture, Hypoglutaminemia	OMIM:610015
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Incre...	ORPHA:85188
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot,...	OMIM:263520
Distal Deletion 12Q	Ectopic kidney, Biliary atresia, Pituitary adenoma, Aplasia/Hypoplasia of the middle phalanx of t...	ORPHA:96149
Carpenter Syndrome 1	Sensorineural hearing impairment, Abnormal pinna morphology, Flared iliac wing, Duplication of th...	OMIM:201000
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Failure ...	OMIM:618805
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Hepatomegaly, Retinal dystrophy, Elevated urine trihydroxycholestanoic acid level, O...	OMIM:266510
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Reduced bone mineral density, Anemia, Aganglionic megacolon, Lymp...	ORPHA:935
Zellweger Syndrome	Optic atrophy, Clitoral hypertrophy, Hepatomegaly, Hypospadias, Epiphyseal stippling, Sensorineur...	ORPHA:912
Propionic Acidemia	Cerebellar hemorrhage, Increased level of hippuric acid in urine, Pancreatitis, Hepatomegaly, Ane...	OMIM:606054
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Polycystic kidney dysplasia, Gout, Hepatic cysts, Stage 5 c...	OMIM:618061
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Hypertension, Cardiomyopathy, Multiple renal cysts, Epididymal cyst, My...	ORPHA:892
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Gaisböck Syndrome	Hypertriglyceridemia, Elevated plasma cell count, Hypertension, Hypernatriuria, Nephrocalcinosis,...	ORPHA:90041
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Multiple glomerular cysts, Abnormal rena...	OMIM:137920
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Elevated circulating hepatic transaminase concentration, Decreased glomerular filtra...	ORPHA:340
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio...	OMIM:619386
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud...	ORPHA:1215
Pendred Syndrome	Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque...	ORPHA:705
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Irritability, Depression, Vacuolated lymphocytes, Macular degeneration, Flexion co...	OMIM:256730
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Concentric hypertrophic cardiomyopathy, Vacuolated lymphocytes, Macular degenerati...	OMIM:204200
Cataract 21, Multiple Types	Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, M...	OMIM:610202
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Neonatal Severe Primary Hyperparathyroidism	Short stature, Hepatomegaly, Splenomegaly	ORPHA:417
Mietens Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Clinodactyly of the...	ORPHA:2557
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Genu valgum, Hepatomegaly, Cone-shaped epiphyses of the phalanges of the hand, ...	OMIM:615630
Seckel Syndrome 10	Hypertriglyceridemia, Congestive heart failure, Glucose intolerance, Slender long bone, Retinal d...	OMIM:617253
Corticosterone Methyloxidase Type Ii Deficiency	Renal salt wasting, Hyperkalemia, Orthostatic hypotension, Increased circulating corticosterone l...	OMIM:610600
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Bradycardia, Absent ossification of capital femoral epiphysis, Delayed...	ORPHA:226313
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Rhizomelia, Hypospadias, Anophthalmia, 2-3 toe syndactyly, Microcornea, Precociou...	OMIM:615877
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Hepatomegaly	OMIM:615924
Retinitis Pigmentosa 59	Intrauterine growth retardation, Failure to thrive, Hepatomegaly, Elevated circulating hepatic tr...	OMIM:613861
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Cirrhosis, Hepatomegaly, Maternal diabetes, Pancr...	ORPHA:79083
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia, Cryptorchidism, Hearing impairment, Macrotia, Developmental cataract,...	ORPHA:90322
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotu...	OMIM:618280
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei...	OMIM:620058
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Irritability, Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricul...	OMIM:618278
Shwachman-Diamond Syndrome 1	Narrow greater sciatic notch, Hepatomegaly, Neutropenia, Metaphyseal sclerosis, Acute myeloid leu...	OMIM:260400
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Reduced circulating pyrimidine 5-prime-nucleotidase activity	OMIM:266120
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Abnormal right ventricle morphology, Tibial bowing, Chronic neutropenia, Mitral ...	ORPHA:500095
Alpha-Heavy Chain Disease	Hepatomegaly, Hypocalcemia, Ascites, Growth delay, Splenomegaly	ORPHA:100025
Pseudo-Torch Syndrome 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bradycardia, Ascites, Abno...	OMIM:617397
Babesiosis	Clinodactyly of the 5th toe, Congestive heart failure, Jaundice, Hepatomegaly, Myocardial infarct...	ORPHA:108
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased distal sensory nerve action potential, Decreased sensory nerve conduction velocity, Dec...	ORPHA:206594
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal nerve conduction velocity, Sensorineural hearing impairment, Limitation of...	ORPHA:93476
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Short long bone, Pulmonic stenosis, Cardiomegaly, Right atrial ...	OMIM:306955
Alpha-Mannosidosis, Adult Form	Osteopenia, Mixed hearing impairment, Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract...	ORPHA:309288
Cranioectodermal Dysplasia 2	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypertension, Cholestas...	OMIM:613610
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Postaxial hand polydactyly, Ascites, Polysplenia, Micromelia, Omph...	OMIM:200995
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Liberfarb Syndrome	Bone spicule pigmentation of the retina, Metaphyseal striations, Delayed epiphyseal ossification,...	OMIM:618889
Microphthalmia, Syndromic 16	Microphthalmia, Sclerocornea, Anophthalmia	OMIM:611038
Bardet-Biedl Syndrome 17	Bone spicule pigmentation of the retina, Mesoaxial polydactyly, Cognitive impairment, Hypogonadis...	OMIM:615994
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Femoral bowing, Tibial bowing, Cardiomyopathy, Irregular, rachitic-lik...	ORPHA:289157
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Inguinal hernia, Bradycardia, Abnormal autonomic nervous system physiology, Joint ...	OMIM:614498
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy, Gout...	OMIM:617056
Spondylometaphyseal Dysplasia, Axial	Narrow greater sciatic notch, Optic atrophy, Rhizomelia, Coxa vara, Cone/cone-rod dystrophy, Reti...	OMIM:602271
Vitamin B12-Responsive Methylmalonic Acidemia	Hyperammonemia, Hepatomegaly, Failure to thrive	ORPHA:28
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hand tremor, Hemolytic anemia	OMIM:609153
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Anemia, Osteoporosis, Splenomegaly, Abnor...	ORPHA:100024
Autoimmune Lymphoproliferative Syndrome, Type Iii	Splenomegaly, Stage 5 chronic kidney disease, Hepatosplenomegaly, Increased proportion autoreacti...	OMIM:615559
Multicentric Osteolysis, Nodulosis, And Arthropathy	Ankylosis of feet small joints, Thin metacarpal cortices, Corneal opacity, Wrist flexion contract...	OMIM:259600
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Orthostatic hypotension, Elevated serum 11-deoxycortisol, Abnormal circulating cort...	ORPHA:556030
Congenital Toxoplasmosis	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascites, Cardiom...	ORPHA:858
Genetic Recurrent Myoglobinuria	Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Elevated circulating hepatic t...	ORPHA:99845
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Orthostatic hypotension, Elevated serum 11-deoxycortisol, Abnormal circulating cort...	ORPHA:556037
Mpi-Cdg	Decreased liver function, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Po...	ORPHA:79319
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Neurogenic bladder, Megaloblastic anemia, Cardiomyopathy, Tremor, Sid...	OMIM:222300
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration, Anemia,...	ORPHA:75563
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Generalized bone demineralization, Nephrotic syndrome, Mucopolysaccha...	OMIM:215250
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short long bone, Corneal opacity, Coarse metaphyseal trabecularization, Limb undergrowth, Metaphy...	OMIM:618961
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Irritability, Pancreatitis, Hypokalemia, Anuria, Hypertension, Leukocytosis,...	ORPHA:90038
Myopathy With Extrapyramidal Signs	Optic atrophy, Hypervalinemia, Hepatomegaly, Elevated circulating hepatic transaminase concentrat...	OMIM:615673
Sialidosis Type 1	Decreased nerve conduction velocity, Increased urinary O-linked sialopeptides, Sensorineural hear...	ORPHA:812
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Portal vein thrombosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein co...	ORPHA:33402
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ...	OMIM:255120
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Diamond-Blackfan Anemia 6	Triphalangeal thumb, Macrocytic anemia, Tracheomalacia, Increased mean corpuscular volume, Ventri...	OMIM:612561
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Congestive heart failure, Glomerulopathy, Hepatomegaly, Pancreatitis, Lipoa...	ORPHA:2348
15q26 overgrowth syndrome	Abnormality of the kidney, Craniosynostosis, Polycystic kidney dysplasia, Abnormal finger morphol...	DECIPHER:81
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Osteopetrosis, Hepatomegaly, Anemia, Facial palsy, Failure to thrive, Thrombocytop...	OMIM:615085
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Enlarged kidney, Inguinal hernia, Umbilical hernia, Nephroblastoma	OMIM:618272
Fryns Microphthalmia Syndrome	Macrotia, Microphthalmia, Anophthalmia, Unicornuate uterus	OMIM:600776
Congenital Myopathy 22A, Classic	Bradycardia, Tricuspid regurgitation, Congenital finger flexion contractures, Osteoporosis, Hip c...	OMIM:620351
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating ...	OMIM:615558
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Hep...	ORPHA:263455
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Jaundic...	OMIM:620376
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim...	OMIM:600785
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Bradycardia, Ureterocele, Abnormal blood ion concentration, Ab...	ORPHA:79404
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia, Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia, Cardiomyopat...	OMIM:619046
Classic Galactosemia	Jaundice, Hepatomegaly, Reduced bone mineral density, Elevated circulating hepatic transaminase c...	ORPHA:79239
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Lipoatrophy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatic...	ORPHA:280365
Mucopolysaccharidosis, Type Ivb	Genu valgum, Hepatomegaly, Keratan sulfate excretion in urine, Corneal opacity, Osteoporosis, Bil...	OMIM:253010
Mucolipidosis Iv	Optic atrophy, Opacification of the corneal stroma, Dystonia, Corneal opacity	OMIM:252650
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Preaxial polydactyly, Fibular bowing, Hypospadias, Sandal gap, Hitchhiker thumb,...	OMIM:612651
Cerebrooculonasal Syndrome	Abnormal tragus morphology, Low-set, posteriorly rotated ears, Hypoplasia of penis, Anophthalmia,...	ORPHA:66625
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Facial palsy,...	OMIM:611490
Cockayne Syndrome B	Square pelvis bone, Microphthalmia, Hypoplastic iliac wing, Sensorineural hearing impairment, Abn...	OMIM:133540
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced...	ORPHA:228305
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentrati...	OMIM:269700
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Biliary cirrh...	OMIM:620454
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Radial deviation of finger, Microphthalmia, Abnormal pinna morphology, Corn...	OMIM:268300
Dihydrolipoamide Dehydrogenase Deficiency	Decreased liver function, Increased serum pyruvate, Elevated circulating hepatic transaminase con...	OMIM:246900
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin, Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia	ORPHA:90036
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Mildly elevated creatine kinase, Hepatomegaly, Abnormality of the liver, Decreased circulating ca...	ORPHA:254864
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch...	ORPHA:209902
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Red...	ORPHA:1451
Somatostatinoma	Steatorrhea, Intrahepatic cholestasis, Neoplasm of the pancreas, Gallbladder dysfunction, Hepatom...	ORPHA:97283
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cystic renal dysplasia, Hepatomegaly, Ectopic kidney, Cataract, Cryptorchidism, O...	OMIM:613730
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia, Increased circulating thyroglobulin concentration, Thyroid hypoplasia, Delayed proxi...	ORPHA:90673
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Microphthalmia, Femoral bowing, Short long bone, Short metacarpal, ...	OMIM:608940
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ...	OMIM:617319
Schimke Immunoosseous Dysplasia	Osteopenia, Abnormal T cell morphology, Lateral displacement of the femoral head, Astigmatism, An...	OMIM:242900
Epidermal Nevus Syndrome	Osteopenia, Polycystic kidney dysplasia, Astigmatism	ORPHA:35125
Gómez-López-Hernández Syndrome	Low-set ears, Corneal opacity	ORPHA:1532
Poems Syndrome	Hepatomegaly, Metaphyseal sclerosis, Thrombocytosis, Clubbing of fingers, Lymphadenopathy, Viscer...	ORPHA:2905
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Depression, Atrial fibrillation, Cardiomyopathy, Elevate...	OMIM:300842
Fructose Intolerance, Hereditary	Bicarbonaturia, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hep...	OMIM:229600
Cach Syndrome	Optic atrophy, Irritability, Gonadal dysgenesis, Pancreatitis, Nonketotic hyperglycinemia, Optic ...	ORPHA:135
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:614576
Hyperkalemic Periodic Paralysis	Hyperkalemia, Congestive heart failure, Hypokalemia, Elevated circulating creatine kinase concent...	ORPHA:682
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Short stature, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hyperl...	ORPHA:2089
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circ...	OMIM:605911
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of t...	OMIM:266920
Hjv Or Hamp-Related Hemochromatosis	Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra...	ORPHA:79230
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Myoglobinuria, Hypotension, Elevated circulating creatine kinase concentration, Tac...	OMIM:145600
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Clubb...	OMIM:620632
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Sanjad-Sakati Syndrome	Astigmatism, Hypoparathyroidism, Congenital hypoparathyroidism, Low-set, posteriorly rotated ears...	ORPHA:2323
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:300635
Proteus Syndrome	Macrodactyly, Enlarged kidney, Lipoma, Cachexia, Abnormal finger morphology, Calvarial hyperostos...	ORPHA:744
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Ambiguous genitalia, male, Bradycardia, Partial development of the penile shaft, Exaggerated star...	OMIM:608800
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Cyanosis, Transient Neonatal	Hepatomegaly, Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Immunodeficiency 69	Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosp...	OMIM:618963
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicou...	OMIM:130650
Yellow Fever	Hematemesis, Bradycardia, Elevated circulating creatinine concentration, Acute kidney injury, Jau...	ORPHA:99829
Brachyolmia Type 1, Toledo Type	Precocious costochondral ossification, Increased urinary disaccharide excretion, Broad tibial met...	OMIM:271630
Hydrolethalus	Microphthalmia, Low-set, posteriorly rotated ears, Abnormal fallopian tube morphology, Anophthalm...	ORPHA:2189
Galactokinase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Increased level of galactito...	ORPHA:79237
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor	OMIM:617523
Wolman Disease	Steatorrhea, Hepatomegaly, Cachexia, Ascites, Growth delay, Splenomegaly, Hepatic failure	ORPHA:75233
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Microphthalmia, Rhizomelia, Flared metaphysis, Short long bone, Met...	ORPHA:85167
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Paroxysmal Nocturnal Hemoglobinuria	Hypertension, Abnormal erythrocyte enzyme concentration or activity, Unconjugated hyperbilirubine...	ORPHA:447
Schimke Immuno-Osseous Dysplasia	Anemia, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis, Abnormal fem...	ORPHA:1830
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Aplasia/Hypoplasia of the earlobes, Deviation of...	ORPHA:1104
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Retinal arteriolar tortuosity, Hematuria, Supraventricular arrhythmia, Elevated circulating creat...	OMIM:611773
Tuberous Sclerosis Complex	Cardiac rhabdomyoma, Pheochromocytoma, Hypertension, Pituitary adenoma, Parathyroid adenoma, Stag...	ORPHA:805
Cystinosis	Rickets, Hypokalemia, Nephropathy, Portal hypertension, Retinopathy, Failure to thrive, Proteinur...	ORPHA:213
Thyrotoxic Periodic Paralysis	Hyperkalemia, Transient hypophosphatemia, Prolonged QT interval, Tremor, Decreased urinary potass...	ORPHA:79102
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated circulating hepatic transaminase concentration, Portal hypertension, Abnormality of the ...	ORPHA:210136
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Splenomegaly	OMIM:606445
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Corneal opacity, Proteinuria, Stage 5 ...	ORPHA:650
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Cach...	ORPHA:77297
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Irritability, Hypospadias, Craniofacial dystonia, Hyperammonemia, Progressive neur...	OMIM:618253
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Delayed puberty, Hepatomegaly, Elevated circulating creatine kinase concentration, Growth delay	OMIM:615704
Congenital Erythropoietic Porphyria	Increased urinary porphobilinogen, Purple urine, Red-brown urine, Unconjugated hyperbilirubinemia...	ORPHA:79277
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Decreased circulating carnitine concentration, Microvesicular hepatic steatosis, De...	OMIM:212140
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Reni Syndrome	Hypertriglyceridemia, Lymphopenia, Focal segmental glomerulosclerosis, Podocyte foot process effa...	OMIM:617575
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:300946
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Cystinosis, Nephropathic	Generalized aminoaciduria, Retinopathy, Hypophosphatemia, Splenomegaly, Stage 5 chronic kidney di...	OMIM:219800
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatic steatosis, Abnormal circulating creatine kinase concentration, Elevated circulating hepat...	ORPHA:369840
Long Qt Syndrome 16	Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ...	OMIM:618782
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Cirrhosis, Elevated circulating hepatic transaminase concentration, Increased serum bile acid con...	OMIM:242150
Multiple Sulfatase Deficiency	Optic atrophy, Hepatomegaly, Sensorineural hearing impairment, Corneal opacity, Mucopolysaccharid...	ORPHA:585
Osteootohepatoenteric Syndrome	Reduced bone mineral density, Portal fibrosis, Increased serum bile acid concentration, Hypokalem...	OMIM:619377
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Hydroureter, Megaloblastic anemia, Abnormal autonomic nervous system physiology, S...	OMIM:598500
Bohring-Opitz Syndrome	Optic atrophy, Annular pancreas, Severe failure to thrive, Fixed elbow flexion, Cardiomegaly, Cho...	ORPHA:97297
Eisenmenger Syndrome	Clubbing, Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart m...	ORPHA:97214
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Triphalangeal thumb, Postaxial hand polydactyly, Multinodular goiter, Multicystic kidney dysplasi...	ORPHA:2091
Aicardi-Goutieres Syndrome 6	Irritability, Hepatomegaly, Tremor, Dystonia, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Gitelman Syndrome	Urinary incontinence, Neoplasm of the pancreas, Prolonged QT interval, Renal potassium wasting, P...	ORPHA:358
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis...	ORPHA:846
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Decreased glucosephosphate isomerase level, Splenomegaly, Pigment galls...	OMIM:613470
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Pelvic kidney, Low-set ears, Bicor...	OMIM:601186
Isolated Atp Synthase Deficiency	Optic atrophy, 3-Methylglutaconic aciduria, Hepatomegaly, Hyperalaninemia, Hypertrophic cardiomyo...	ORPHA:254913
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Elevated plasma citrulline, Hypoglutaminemia, Hepatomegaly, Hyperglutamatemia, I...	ORPHA:3008
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Cranial hyperostosis, Osteopetrosis, Genu valgum, Anemia, Pancytopenia, Diaphyseal...	OMIM:259710
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hypertension, Mitral regurgitation, Mitral valve prolapse, Hepatic c...	OMIM:173900
Immunodeficiency 27A	Anemia, Lymphadenopathy, Salmonella osteomyelitis, Leukocytosis, Hypoplasia of the femoral head, ...	OMIM:209950
Mckusick-Kaufman Syndrome	Transverse vaginal septum, Hydrometrocolpos, Aganglionic megacolon, Hydroureter, Rectovaginal fis...	OMIM:236700
Sclerosteosis	Diaphyseal undertubulation, Optic atrophy, Abnormal cortical bone morphology, Craniofacial hypero...	ORPHA:3152
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Bor Syndrome	Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, Abnormality of ...	ORPHA:107
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Gm1 Gangliosidosis	Abnormal metaphysis morphology, Optic atrophy, Generalized dystonia, Abnormal diaphysis morpholog...	ORPHA:354
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Microphthalmia, Absent distal phalanges, Corneal opacity...	OMIM:619339
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thri...	OMIM:613489
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Generalized aminoaciduria, Impaired glucose tolerance, Nephrocalcinosis, Hy...	ORPHA:2088
Hypophosphatemic Rickets, X-Linked Recessive	Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Metaphyseal irregularity, ...	OMIM:300554
14Q22Q23 Microdeletion Syndrome	Short 4th metacarpal, Clinodactyly of the 5th finger, Anophthalmia, Finger syndactyly, Anterior p...	ORPHA:264200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Elevated circulating hepatic transaminase concentration, Hypoketotic hypog...	ORPHA:71212
Autosomal Recessive Progressive External Ophthalmoplegia	Optic atrophy, Depression, Optic neuritis, Sensory axonal neuropathy, Cardiomyopathy, Elevated ci...	ORPHA:254886
Harel-Yoon Syndrome	Optic atrophy, Corneal opacity, Dystonia, Developmental cataract, Hip dysplasia	OMIM:617183
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia...	OMIM:617805
Papillorenal Syndrome	Hypertension, Joint hypermobility, Elevated circulating creatinine concentration, Stage 5 chronic...	OMIM:120330
Coach Syndrome 2	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic fibrosis, Conge...	OMIM:619111
Floating-Harbor Syndrome	Dislocated radial head, Short metacarpal, Cochlear malformation, Nephrocalcinosis, Congenital pos...	ORPHA:2044
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Proximal placement of thumb, Hypertension, Bifid scrotum, Splenomegaly...	OMIM:270400
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Protruding ear, Unilateral renal agenesis, Corneal opacity, Low-set ears, Development...	OMIM:616603
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Limited elbow movement, Pulmonic stenosis, Short humerus, Syndac...	OMIM:134780
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Protruding ear, Clinodactyly of the 5th finger, Polycystic kidney dysp...	OMIM:606232
Mosaic Trisomy 9	Rocker bottom foot, Hypoplastic female external genitalia, Microphthalmia, Abnormal fallopian tub...	ORPHA:99776
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Hypomethioninemia, Abnor...	ORPHA:79282
Corticosterone Methyloxidase Type I Deficiency	Renal salt wasting, Hyperkalemia, Hypotension, Increased circulating renin level, Hyponatremia, F...	OMIM:203400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated circulating hepatic transaminase concentration, Bifid scrotum, Cognitive impairment, Hea...	OMIM:619475
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Reduced bone mineral density, Macular edema, Macular exudate, Chorioretin...	ORPHA:891
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Female external genitalia in individual with 46,XY karyotype, Abnormal female exter...	ORPHA:90790
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteolysis involving bones of the lower limbs, Hypertension, Premature thelarche, Nodular goiter,...	ORPHA:371428
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Hypospadias, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobe...	ORPHA:98791
Nephronophthisis 20	Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff...	OMIM:617271
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Lead Poisoning	Abnormal T cell morphology, Cranial hyperostosis, Decreased HDL cholesterol concentration, Anemia...	ORPHA:330015
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Short stature, Hep...	OMIM:619013
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er...	OMIM:301083
Arthrogryposis, Distal, Type 2A	Rocker bottom foot, Flexion contracture of toe, Wrist flexion contracture, Flexion contracture of...	OMIM:193700
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529808
Thiel-Behnke Corneal Dystrophy	Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop...	ORPHA:98960
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Elevat...	ORPHA:247585
Macrophage Activation Syndrome	Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Elevated circulating C-reactive pro...	ORPHA:158061
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Sensorineural hearing impairment, Anterior pituitary h...	OMIM:206900
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a...	OMIM:614022
Niemann-Pick Disease, Type A	Irritability, Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Athe...	OMIM:257200
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Gm2 Gangliosidosis, Ab Variant	Dystonia, Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment	ORPHA:309246
Heme Oxygenase 1 Deficiency	Hepatomegaly, Elevated circulating C-reactive protein concentration, Elevated circulating alanine...	OMIM:614034
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C...	OMIM:269400
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Bradycardia, Failure to thrive, Increased circulating free fatty acid l...	OMIM:610768
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Steatorrhea, Proximal tubulopathy, Renal cyst, Failure...	OMIM:602579
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentrati...	OMIM:615234
Meacham Syndrome	Blind vagina, Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total a...	OMIM:608978
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Renal salt wasting, Hyperkalemia, Hypotension, Hyponatremia, Failure to thrive, Hyperaldosteronism	OMIM:264350
Hurler Syndrome	Diaphyseal undertubulation, Cranial hyperostosis, Recurrent otitis media, Hepatomegaly, Short cla...	OMIM:607014
Leber Congenital Amaurosis 1	Growth delay, Hepatomegaly, Hyperthreoninemia	OMIM:204000
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Acute kidney injury, Myocarditis, Pancreatitis, Hypocalcemia, Anuria, Nephrotic ran...	ORPHA:544482
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, Leukoc...	OMIM:607115
Immunodeficiency 54	Postnatal growth retardation, Hepatomegaly, Short stature, Failure to thrive, Splenomegaly, Intra...	OMIM:609981
Denys-Drash Syndrome	Congenital diaphragmatic hernia, Ambiguous genitalia, male, Enlarged kidney, Posterolateral diaph...	OMIM:194080
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Re...	ORPHA:542306
Sarcosinemia	Optic atrophy, Emotional lability, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hypersarcosine...	ORPHA:3129
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of connective tissue, Clu...	ORPHA:79128
Dent Disease 1	Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Metaphyseal irregularity, ...	OMIM:300009
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Sandal gap, Prominent fingertip pads, Short lower limbs, Abnormal heart morpholo...	OMIM:615873
Bone Marrow Failure Syndrome 6	Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, ...	OMIM:618849
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:300106
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, 3-Methylglutaconic aciduria, Optic nerve hypoplasia, Corneal opacity, Hip dysplasi...	ORPHA:496790
Fabry Disease	Abnormal circulating lipid concentration, Abnormal femur morphology, Reduced bone mineral density...	ORPHA:324
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentrati...	OMIM:608594
Orofaciodigital Syndrome I	Polydactyly, Radial deviation of finger, Polycystic kidney dysplasia, Hypertension, Short 2nd toe...	OMIM:311200
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Hypochromic microcytic anemia, Absent brainstem auditory responses, Head titubation, Thrombocytop...	ORPHA:3240
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Reduced bone mineral density, Genu valgum, Corneal opacity, Bowin...	ORPHA:582
Bardet-Biedl Syndrome 6	External genital hypoplasia, Hypospadias, Renal cyst, Postaxial polydactyly, Obesity, Syndactyly,...	OMIM:605231
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Steatorrhea, Elevated circulating hepatic transaminase concent...	OMIM:618752
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c...	OMIM:217300
Infantile Liver Failure Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h...	OMIM:615438
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Congenital diaphragmatic hernia, Enlarged kidney, Short greater sci...	OMIM:312870
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Clitoral hypertrophy, Femoral bowing, Hypertension, Bifid scrotum, Arachnodac...	OMIM:201750
Alveolar Echinococcosis	Decreased liver function, Jaundice, Anemia, Cholangitis, Liver abscess, Bone cyst, Abnormal bladd...	ORPHA:284
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ...	ORPHA:50815
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Limb undergrowth...	ORPHA:2204
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Increased circulating brain natriuretic peptide ...	OMIM:601494
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia	ORPHA:517
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Vacterl With Hydrocephalus	Hypoplasia of the radius, Microphthalmia, Renal hypoplasia/aplasia, Abnormal fallopian tube morph...	ORPHA:3412
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Ulnar deviation of the 3rd finger, Abnormal liver parenchyma morphology, Decreased sensory nerve ...	ORPHA:456312
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response	ORPHA:3198
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Inguinal hernia, Ventricular septal defect, Short metacarpal, Renal cyst, Retinal degeneration, H...	ORPHA:166035
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Short finger, Decreased response to growth hormone stimulation test, Hypopituitarism, Reduced cir...	ORPHA:226307
Diamond-Blackfan Anemia 7	Osteopenia, Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Vesicouret...	OMIM:612562
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level, Hepatomegaly, Hepatic steatosis	OMIM:615238
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Gaucher Disease, Type Iii	Hepatomegaly, Decreased body weight, Short stature, Decreased beta-glucocerebrosidase level, Sple...	OMIM:231000
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Premature pubarche, Elevated circulating hepatic transaminase concentration, Prolo...	OMIM:616878
Carnitine Palmitoyl Transferase 1A Deficiency	Transient hyperlipidemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:156
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Intraalveolar phospholipid accumulation, Cholestasis, Elevated circulati...	OMIM:615486
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Postnatal growth retardation, Hepatomegaly, Splenomegaly, Increased circula...	OMIM:620603
Chylomicron Retention Disease	Steatorrhea, Elevated circulating hepatic transaminase concentration, Increased hepatocellular li...	ORPHA:71
Pantothenate Kinase-Associated Neurodegeneration	Limb dystonia, Acanthocytosis, Optic atrophy, Depression, Dystonia, Rod-cone dystrophy, Abetalipo...	ORPHA:157850
Klatskin Tumor	Jaundice, Hepatomegaly, Weight loss, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Bartsocas-Papas Syndrome	Popliteal pterygium, Renal hypoplasia/aplasia, Ambiguous genitalia, Finger syndactyly, Hypoplasti...	ORPHA:1234
Dpm1-Cdg	Optic atrophy, Hepatomegaly, External genital hypoplasia, Elevated circulating hepatic transamina...	ORPHA:79322
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo...	ORPHA:536471
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Acute kidney injury, Decreased liver function, Prolonged QT interval, Hypocalcemia,...	ORPHA:466650
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Failure to thrive, Exocrine pancreatic insufficiency, Spleno...	OMIM:612714
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:367
Ethylene Glycol Poisoning	Hyperkalemia, Congestive heart failure, Renal tubular epithelial necrosis, Shock, Hematuria, Prol...	ORPHA:31826
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Reduced phosphoenolpyr...	OMIM:261680
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr...	ORPHA:216694
8Q21.11 Microdeletion Syndrome	Microphthalmia, Abnormal metacarpal morphology, Hypoplasia of penis, Finger syndactyly, Corneal o...	ORPHA:284160
Stickler Syndrome Type 2	Cataract, Sensorineural hearing impairment, Corneal opacity	ORPHA:90654
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Abnormality of the kidney, Aganglionic megacolon, Clinodactyly of the 5th finger, ...	ORPHA:847
Autoinflammation With Infantile Enterocolitis	Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Failure to thrive, D...	OMIM:616050
Argininemia	Postnatal growth retardation, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activit...	OMIM:207800
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Proximal pla...	OMIM:314390
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Hypotension, Increased circulating renin level, Hyponatremia, Failure to thrive, Hy...	OMIM:177735
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice...	ORPHA:100086
Fanconi Anemia, Complementation Group O	Hypoplasia of the radius, External genital hypoplasia, Proximal placement of thumb, Renal cyst, H...	OMIM:613390
Morquio Syndrome C	Corneal opacity	OMIM:252300
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Rieger anomaly, Abnormally...	OMIM:109120
Scheie Syndrome	Hepatomegaly, Abnormal nerve conduction velocity, Sensorineural hearing impairment, Limitation of...	ORPHA:93474
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Sandal gap, Hypoplasia of penis, Ascites, Abnormal...	ORPHA:1046
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Optic atrophy, Calcinosis, Hypokalemia, Hypocalcemia, Hypertension, Renal artery sten...	OMIM:617913
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ...	OMIM:610532
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria	OMIM:268200
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cel...	OMIM:256550
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hypophosphatemic rickets, Recurrent fractures, Abnormal finger morphology, Corneal op...	OMIM:163200
Hereditary Cryohydrocytosis With Reduced Stomatin	Postnatal growth retardation, Jaundice, Short stature, Hepatosplenomegaly, Conjugated hyperbiliru...	ORPHA:168577
Atrial Standstill 2	Scarring, Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Dilatation of th...	OMIM:615745
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone...	OMIM:250220
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Decreased liver function, Polycystic kidney dysplasia, Hypertension, Hepatic cysts	OMIM:600666
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,...	OMIM:616026
Hsd10 Disease, Infantile Type	Optic atrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Retinal degeneration, Dystonia, Cardi...	ORPHA:391428
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Elevated circulating hepatic transaminase concentration, Hypoketotic hypog...	ORPHA:26793
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Stage 5 chronic kidney disease, Hyperglycinemia, Cerebellar hemorrhage, Methylmalonic acidemia, P...	OMIM:251000
Camurati-Engelmann Disease	Abnormal femur morphology, Cachexia, Leukopenia, Splenomegaly, Hypogonadism, Craniofacial osteosc...	ORPHA:1328
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Juvenile Paget Disease	Optic atrophy, Cranial hyperostosis, Hyperuricemia, Hypertension, Bowing of the long bones, Osteo...	ORPHA:2801
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Spleno...	OMIM:610333
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, Type I diabetes mellitus, T-cell acute lymphoblastic leukemias...	OMIM:620044
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Vasculitis, Arthritis, Leu...	ORPHA:37748
Mitochondrial Complex I Deficiency, Nuclear Type 37	Hypospadias, Inguinal hernia, Bradycardia, Pulmonary arterial hypertension, Failure to thrive, Op...	OMIM:619272
Axial Osteomalacia	Increased bone mineral density, Elevated circulating creatine kinase concentration, Renal cyst, P...	OMIM:109130
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hypertension, Hyperlipidemia, Increased body weight, Cognitive impairment, Pituitary adenoma, Hyp...	ORPHA:189427
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute...	ORPHA:905
Focal Dermal Hypoplasia	Mixed hearing impairment, Ureteral duplication, Microphthalmia, Aniridia, Short metacarpal, Split...	OMIM:305600
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Aplasia of the 1st metacarpal, Bone marrow hypocellularity, Abnormal heart morpho...	OMIM:227646
Renal Dysplasia	Pelvic mass, Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary inco...	ORPHA:93108
Hypoadrenocorticism, Familial	Hyperkalemia, Hyponatremia, Hypoglycemia	OMIM:240200
Infantile Refsum Disease	Optic atrophy, Hepatomegaly, Cardiomyopathy, Facial palsy, Elevated circulating phytanic acid con...	ORPHA:772
Trichohepatoenteric Syndrome 2	Cirrhosis, Hepatomegaly, Chronic hepatitis, Failure to thrive, Decreased circulating iron concent...	OMIM:614602
Holoprosencephaly	Optic atrophy, Microphthalmia, Anterior hypopituitarism, Hypoplasia of penis, Abnormal antihelix ...	ORPHA:2162
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Cholestatic liver disease, Prolonged neonatal jaundice, Splenomegaly, Joint...	OMIM:619418
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Acute kidney injury, Cardiomyocyte mitochondrial proliferation, Myoglobinuria, Supr...	ORPHA:423
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Prolonged QT interval, Heart block, Pancytopenia, Elevated...	ORPHA:398124
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebral atrophy, Sensorineural hearing impairment, Brain atrophy, Cerebellar atrophy, Abnormal a...	OMIM:619260
Gaucher Disease	Decreased HDL cholesterol concentration, Retinopathy, Joint stiffness, Leukopenia, Splenomegaly, ...	ORPHA:355
Rabson-Mendenhall Syndrome	Clitoral hypertrophy, Cardiomyopathy, Impaired glucose tolerance, Retinopathy, Nephrocalcinosis, ...	ORPHA:769
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Muckle-Wells Syndrome	Optic atrophy, Hepatomegaly, Anemia, Vasculitis, Arthritis, Nephrotic syndrome, Camptodactyly of ...	ORPHA:575
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Protruding ear, Astigmatism, Microphthalmia, Myopic astigmatism, Microcornea, Corn...	OMIM:152950
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Abnormal hip bone morphology, Tibial bowing, Cardiomyopathy, Abnormal...	ORPHA:175
Microphthalmia, Syndromic 6	Microphthalmia, Female hypogonadism, Small scrotum, Polydactyly, Hearing impairment, Failure to t...	OMIM:607932
Hypophosphatemic Rickets, X-Linked Dominant	Femoral bowing, Tibial bowing, Hypophosphatemia, Enamel hypomineralization, Metaphyseal irregular...	OMIM:307800
Histiocytoid Cardiomyopathy	Optic atrophy, Congestive heart failure, Hepatomegaly, Wolff-Parkinson-White syndrome, Atrial flu...	ORPHA:137675
Stiff-Person Syndrome	Anemia, Depression, Hypertension, Exaggerated startle response, Opisthotonus, Tachycardia, Diabet...	OMIM:184850
Mosaic Trisomy 1	Rocker bottom foot, Microphthalmia, Broad 2nd toe, Abnormal pinna morphology, Arachnodactyly, Lon...	ORPHA:1692
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Hypertension, Reticulocytosis, Episodic hemolyti...	ORPHA:90044
Focal Dermal Hypoplasia	Microphthalmia, Renal hypoplasia/aplasia, Corneal opacity, Hypoplastic pelvis, Split foot, Abnorm...	ORPHA:2092
Mucolipidosis Type Iii Alpha/Beta	Recurrent otitis media, Keratan sulfate excretion in urine, Sensorineural hearing impairment, Cor...	ORPHA:423461
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in females, Elevated urinary epinephrine level, Aplasia ...	ORPHA:90794
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Joubert Syndrome 18	Bowing of the long bones, Camptodactyly, Renal cyst, Postaxial polydactyly, Trident pelvis, Joint...	OMIM:614815
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Hepatic fibr...	OMIM:604387
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Microphthalmia, Microcornea, Microtia, Abnormally ossified vertebrae, Aplasia/Hypo...	ORPHA:3301
Combined Oxidative Phosphorylation Deficiency 54	Memory impairment, Tremor, Hypergonadotropic hypogonadism, Obesity, Hyperglycemia, Tachycardia, R...	OMIM:619737
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Abnormal hip bone morphology, Vesicoureteral reflux, Joint stiffness, M...	ORPHA:1166
Short Syndrome	Abnormal anterior chamber morphology, Sensorineural hearing impairment, Corneal opacity, Megaloco...	ORPHA:3163
Romano-Ward Syndrome	Torsade de pointes, Hypokalemia, Prolonged QTc interval, Abnormal autonomic nervous system physio...	ORPHA:101016
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen...	OMIM:610377
Ziegler-Huang Syndrome	Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Elevated circulati...	OMIM:620501
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Congenital stationary night blindness, Genu valgum, Cryptorchidism, Broad thumb, Decreased testic...	ORPHA:293967
Metachromatic Leukodystrophy	Reduced leukocyte arylsulfatase A activity, Gallbladder dysfunction, Cholecystitis	OMIM:250100
Trisomy X	Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Depression, Tremor, Cognitive impairmen...	ORPHA:3375
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Optic atrophy, Irritability, Premature pubarche, Decreased nerve conduction velocity, Foot joint ...	ORPHA:457205
Mucopolysaccharidosis Type 7	Diaphyseal undertubulation, Abnormal hip bone morphology, Epiphyseal stippling, Corneal opacity, ...	ORPHA:584
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Hepatomegaly, Growth delay, Short stature, Splenomegaly	OMIM:615631
Distal Xq28 Microduplication Syndrome	Depression, Patent foramen ovale, Metatarsus adductus, Epistaxis, Neonatal hyperbilirubinemia, At...	ORPHA:293939
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Cadds	Increased circulating very long-chain fatty acid concentration, Elevated circulating hepatic tran...	ORPHA:369942
Distal Renal Tubular Acidosis	Reduced bone mineral density, Decreased glomerular filtration rate, Renal potassium wasting, Sens...	ORPHA:18
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Hypoplastic acetabulae, Flared iliac wing, Dystonia, Splenomegaly, Opacification of...	OMIM:230650
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hyperhomocystinemia, Homocystinuria, Increased mean corpuscular volume, M...	OMIM:277410
Farber Lipogranulomatosis	Irritability, Lipogranulomatosis, Hepatomegaly, Osteolytic defects of the phalanges of the hand, ...	OMIM:228000
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Neonatal hypoglycemia, Infection associated neutropenia, Elevated ci...	ORPHA:445038
Farber Disease	Short finger, Anemia, Arthritis, Corneal opacity, Osteoporosis, Failure to thrive, Hepatosplenome...	ORPHA:333
Erythrocytosis, Familial, 1	Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo...	OMIM:133100
B4Galt1-Cdg	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal circulating enzym...	ORPHA:79332
Lowry-Maclean Syndrome	Osteopenia, Developmental glaucoma, Hypospadias, Corneal opacity, Megalocornea, Bilateral cryptor...	ORPHA:2409
Anterior Segment Dysgenesis 5	Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Citrullinemia, Classic	Elevated plasma citrulline, Cirrhosis, Hepatomegaly, Reduced tissue argininosuccinate synthetase ...	OMIM:215700
Verheij Syndrome	Small for gestational age, Optic nerve hypoplasia, Coloboma, Truncus arteriosus, Renal cyst, Rena...	OMIM:615583
Charge Syndrome	Microphthalmia, Abnormal pinna morphology, Microtia, Bifid scrotum, Bifid femur, Polydactyly, Opt...	ORPHA:138
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Peripheral axonal neuropathy, Hypertrophic cardiomyopathy, Hypocholesterolemia, Mic...	OMIM:618810
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Preaxial polydactyly, Polycystic kidney dysplasia, Micromelia, P...	OMIM:616546
Peripartum Cardiomyopathy	Left atrial enlargement, Sinus tachycardia, Hypertension, Heart murmur, Left ventricular hypertro...	ORPHA:563
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Hypotension, Increased circulating renin level, Hyponatremia, Hyperaldosteronism	OMIM:620125
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Depression, Sensory axonal neuropathy, Tremor, Hyperalaninemia, Dystonia, Acute he...	ORPHA:254881
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Alg8-Cdg	Optic atrophy, Anemia, Elevated circulating hepatic transaminase concentration, Ascites, Camptoda...	ORPHA:79325
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Hepatomegaly, Cholestasis, Ascites, Failure to thrive, Intrauterine gro...	OMIM:608104
Atelosteogenesis Type I	Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Abnormal p...	ORPHA:1190
Cockayne Syndrome A	Square pelvis bone, Hypoplastic iliac wing, Sensorineural hearing impairment, Abnormal pinna morp...	OMIM:216400
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Protruding ear, Multicystic kidney dysplasia, Radioulnar synostosis	ORPHA:3270
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Optic atrophy, 3-Methylglutaconic aciduria, Hyperalaninemia, Hyperammonemia, Failure to thrive, D...	OMIM:614739
Hereditary Methemoglobinemia	Athetosis, Small for gestational age, Limb dystonia, Methemoglobinemia	ORPHA:621
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr...	OMIM:308240
Potocki-Lupski Syndrome	Atrial septal defect, Abnormal renal morphology, Patent foramen ovale, Failure to thrive, Hypocho...	OMIM:610883
Congenital Sialidosis Type 2	Polydactyly, Abnormality of the kidney, Optic atrophy, Hepatomegaly, Corneal opacity, Low-set ear...	ORPHA:93400
X-Linked Intellectual Disability, Nascimento Type	Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Pulmonary ar...	ORPHA:163956
Roifman Syndrome	Hepatomegaly, Clinodactyly of the 5th finger, Lymphadenopathy, Retinal dystrophy, Noncompaction c...	OMIM:616651
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Hearing impairment, Hydronephrosis, Limb joint contracture,...	OMIM:620327
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating hepatic transaminase concentration, Hypertension, Bone marrow hypocellularit...	OMIM:615688
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Hyperglycinemia, Methylmalonic acidemi...	OMIM:251110
Infundibulopelvic Dysgenesis	Microscopic hematuria, Multicystic kidney dysplasia	OMIM:600989
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Anemia, Sensorineural hearing impairment, Vesicoureteral reflux, Corneal sc...	OMIM:618460
Diaphanospondylodysostosis	Narrow pelvis bone, Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentatio...	ORPHA:66637
Mosaic Trisomy 8	Clinodactyly of the 5th finger, Abnormal antihelix morphology, Abnormal pinna morphology, Vesicou...	ORPHA:96061
Hereditary Bullous Dystrophy, Macular Type	Short finger, External genital hypoplasia, Corneal opacity, Decreased testicular size, Cataract, ...	ORPHA:1867
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Optic atrophy, Intention tremor, Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis, Tal...	ORPHA:466794
Oculomaxillofacial Dysostosis	Corneal opacity, Abnormality of the humerus, Aplasia/Hypoplasia affecting the eye, Camptodactyly ...	ORPHA:1794
Neurooculorenal Syndrome	Unilateral renal agenesis, Dextrocardia, Short hallux, Tetralogy of Fallot with pulmonary stenosi...	OMIM:620305
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Bowing of the long bon...	ORPHA:1318
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Anemia, Retinal pigment epithelial atrophy, Hypochromia,...	OMIM:616959
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Microphthalmia, Corneal opacity, Joint stiffness, Nephrocalcinosis, Multipl...	ORPHA:534
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst...	ORPHA:179
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma, Polycystic ovaries, Hy...	ORPHA:1643
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Cornelia De Lange Syndrome 1	Ectopic kidney, Proximal placement of thumb, Dislocated radial head, Abnormal renal morphology, S...	OMIM:122470
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
3Mc Syndrome 3	Preaxial polydactyly, Penoscrotal hypospadias, Horseshoe kidney, Abnormal pinna morphology, Bifid...	OMIM:248340
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th...	OMIM:613839
Mogs-Cdg	Optic atrophy, External genital hypoplasia, Hepatomegaly, Sensorineural hearing impairment, Absen...	ORPHA:79330
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating hepatic transaminase concentration, Cholestasis, Elevated circulating creati...	OMIM:609015
Meckel Syndrome, Type 9	Ambiguous genitalia, Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus	OMIM:614209
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Premature Aging Syndrome, Penttinen Type	Microphthalmia, Slender long bone, Recurrent fractures, Corneal stromal edema, Tibial bowing, Ost...	OMIM:601812
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Megalocornea, ...	OMIM:164900
Autosomal Dominant Keratitis	Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Micr...	ORPHA:2334
Peroxisome Biogenesis Disorder 7A (Zellweger)	Elevated circulating hexacosanoic acid concentration, Elevated circulating tetracosanoic acid con...	OMIM:614872
Amyloidosis, Familial Visceral	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Profound sensorineural hearing impairment, Absent internal auditory canal, Hypoplasia of the cochlea	OMIM:620469
Optic Atrophy 11	Optic atrophy, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, Facial dipleg...	OMIM:617302
16Q24.3 Microdeletion Syndrome	Proximal placement of thumb, Increased mean corpuscular volume, Optic nerve hypoplasia, Ventricul...	ORPHA:261250
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:617222
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia, Corneal dystrophy, Megalocornea, Camptodactyly of finger, Ulnar deviation...	ORPHA:1101
Infantile Liver Failure Syndrome 2	Hyperammonemia, Jaundice, Elevated circulating hepatic transaminase concentration, Acute hepatic ...	OMIM:616483
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol level,...	OMIM:618838
Renal Tubular Dysgenesis	Proximal tubulopathy, Nephropathy, Multiple renal cysts, Joint hypermobility, Renotubular dysgenesis	ORPHA:3033
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Sandal gap, Low-set ears, Camptodactyly of toe, Hearing impairment, Obe...	ORPHA:251038
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, 3-Methylglutaconic aciduria, Decreased liver function, Macrovesicular hepatic stea...	OMIM:618329
Pallister-Hall Syndrome	Microphthalmia, Ectopic kidney, Microtia, Oligodactyly, Shortening of all distal phalanges of the...	OMIM:146510
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Childhood-onset truncal obesity, E...	ORPHA:110
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Optic nerve hypoplasia, Elevated circulating alanine aminotransferase c...	OMIM:620609
Developmental And Epileptic Encephalopathy 101	Limb joint contracture, Third degree atrioventricular block, Opisthotonus, Bradycardia	OMIM:619814
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Corneal neovascularization, Reduced bone mineral density, Elevated circulating hepatic transamina...	ORPHA:404454
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hepatomegaly, Hyperornithinemia, Acute hepatitis, Hyperammonemia, Failu...	OMIM:238970
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e...	OMIM:610256
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Elevated circulating hepatic transamin...	OMIM:619355
Brittle Cornea Syndrome 2	Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Hearing impairment, Scleroc...	OMIM:614170
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Increased circulating ferritin concentratio...	OMIM:194380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Microphthalmia, Corneal opacity, Left ventricular hypertrophy	OMIM:613153
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react...	OMIM:613011
Familial Hypoaldosteronism	Renal salt wasting, Hyperkalemia, Orthostatic hypotension, Hypotension, Hypovolemia, Increased ci...	ORPHA:427
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hepatomegaly	OMIM:266150
Charge Syndrome	Mixed hearing impairment, Microphthalmia, Sensorineural hearing impairment, Microtia, Absent tibi...	OMIM:214800
Microphthalmia, Syndromic 2	Microphthalmia, Sandal gap, Sensorineural hearing impairment, Septate vagina, 2-3 toe cutaneous s...	OMIM:300166
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Exaggerated startle re...	OMIM:616881
Solitary Fibrous Tumor	Pelvic mass, Hypophosphatemic rickets, Abnormal peritoneum morphology, Hypoinsulinemia, Neoplasm ...	ORPHA:2126
Aredyld Syndrome	Lipoatrophy, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morphology, Cachexia...	ORPHA:1133
Ulbright-Hodes Syndrome	Hypoplasia of the radius, Fibular aplasia, Clitoral hypertrophy, Enlarged labia minora, Polycysti...	ORPHA:3404
Peroxisome Biogenesis Disorder 1B	Optic atrophy, Cirrhosis, Hepatomegaly, Epiphyseal stippling, Hyperoxaluria, Renal cyst, Hepatic ...	OMIM:601539
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Angina pectoris, Renal artery atherosclerosis, Vacuolated lymphocytes...	ORPHA:565612
Prune Belly Syndrome	Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,...	ORPHA:2970
Alpha-Mannosidosis, Infantile Form	Mixed hearing impairment, Sensorineural hearing impairment, Corneal opacity, Joint stiffness, Joi...	ORPHA:309282
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Large for gestational age, Hypoplasia of the ulna, Lambdoidal craniosynostosis, Hydro...	OMIM:615398
Trichohepatoenteric Syndrome 1	Cholestasis, Cognitive impairment, Pulmonic stenosis, Renal cortical microcysts, Splenomegaly, Ja...	OMIM:222470
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Biliary cir...	ORPHA:2298
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Multicystic kid...	ORPHA:1454
Pseudohypoaldosteronism Type 2	Hyperkalemia, Abnormal dental enamel morphology, Hypertension	ORPHA:757
Parathyroid Carcinoma	Lipoma, Nephrocalcinosis, Hypophosphatemia, Uterine leiomyoma, Chondrocalcinosis, Nephrolithiasis...	ORPHA:143
Corticosteroid-Binding Globulin Deficiency	Anemia, Hypokalemia, Hypertension, Reduced circulating cortisol-binding globulin concentration, H...	OMIM:611489
Aromatic L-Amino Acid Decarboxylase Deficiency	Irritability, Torticollis, Oculogyric crisis, Emotional lability, Athetosis, Blepharospasm, Limb ...	OMIM:608643
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	OMIM:201450
Anencephaly 2	Anophthalmia	OMIM:619452
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Developmental glaucoma, Unilateral renal agenesis, Aniridia, Corneal opacity, Craniosynostosis	ORPHA:1064
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, Lipoatrophy, Enlarged kidney, Abnormality of the lymphatic system, Foot polydactyly...	ORPHA:276280
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia, Postaxial hand polydac...	OMIM:605627
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Low-set ears, Renal cyst, Arthrogryposis mult...	OMIM:236500
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Ulnar bowing, Corneal opacity, Micromelia, Proteinuria, Aplasia/Hypoplasia of the radi...	ORPHA:1765
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Elevated circulating hepatic transaminase concentration, Joint hypermobility...	ORPHA:93111
Melas	Proximal tubulopathy, Cardiomyopathy, Recurrent pancreatitis, Type I diabetes mellitus, Optic atr...	ORPHA:550
Erythrocytosis, Familial, 4	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:611783
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro...	ORPHA:98908
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Generalized bone demineralization, Orthostatic hypotension, Macrocytic anemia,...	ORPHA:199299
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy, Sensorineural hearing impairment	OMIM:217400
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Optic atrophy, Hepatomegaly, External genital hypoplasia, Elevated circulating hepati...	ORPHA:329178
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Genu valgum, Recurrent otitis media, Hepatomegaly, Talipes equinova...	OMIM:253220
Vipoma	Neoplasm of the pancreas, Normochromic anemia, Ascites, Pituitary adenoma, Parathyroid adenoma, G...	ORPHA:97282
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul...	OMIM:615595
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Mucopolysaccharidosis Type 3	Chronic otitis media, Mixed hearing impairment, Reduced bone mineral density, Sensorineural heari...	ORPHA:581
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukemia, Leukocytosis, Osteoporo...	ORPHA:98850
Congenital Syphilis	Myocarditis, Periostitis, Optic atrophy, Pancreatitis, Anemia, Lymphadenopathy, Tibial bowing, Ch...	ORPHA:499009
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Decreased liver function, Hepatomegaly, Anemia, Hypertrophic cardiomyopathy, Glyco...	ORPHA:436271
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve s...	OMIM:230800
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Clubbing, Portal hypertension, Thrombocytopenia, Splenomegaly,...	OMIM:620367
Erythrocytosis, Familial, 5	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617907
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia, Hepatomegaly, Acute pancreatitis	OMIM:608600
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatitis, Lipoma, Hypercalciuria, Testicular neoplasm, Renal hamartoma, Nephrolithiasis, Rena...	ORPHA:99880
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Bone marrow hypocellularity, Enlarged tonsils, Leukopenia, Abnormal retinal morp...	ORPHA:2785
Hyperchlorhidrosis, Isolated	Hyperkalemia, Hyponatremia, Failure to thrive	OMIM:143860
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Hypertension, Impaired glucose t...	OMIM:219090
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Synotia, Abnormal cranial nerve morphology, Low-set, posteriorly rotated ears, Narrow internal au...	ORPHA:990
Juvenile Sialidosis Type 2	Optic atrophy, Abnormality of the kidney, Hepatomegaly, Corneal opacity, Low-set ears, Visceromeg...	ORPHA:93399
Pancreatic And Cerebellar Agenesis	Anemia, Optic nerve hypoplasia, Pancreatic hypoplasia, Pancreatic aplasia, Joint stiffness, Reduc...	OMIM:609069
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatic cysts, Hepatomegaly	OMIM:617004
Marinesco-Sjögren Syndrome	Optic atrophy, External genital hypoplasia, Abnormal metacarpal morphology, Abnormal finger morph...	ORPHA:559
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Ascites, Urethrovaginal fistula, Splenomegaly, Joint hypermobility, Septate...	OMIM:243800
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Whipple Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Anemia, Depr...	ORPHA:3452
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Epis...	OMIM:616216
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Irritability, Partial atrioventricular canal defect, Exaggerated startl...	OMIM:620423
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Myocarditis, Hepatomegaly, Anemia, Generalized lymphade...	ORPHA:829
Griscelli Syndrome Type 2	Jaundice, Hyperlipidemia, Splenomegaly, Hepatomegaly	ORPHA:79477
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Panniculitis, Elevated circulating h...	OMIM:617591
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Anemia, Cardiomyopathy, Elevated circulating creatine kinase concentrat...	OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Anemia, Elevated circulating creatine kinase concentration, Hypertrophi...	OMIM:618835
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Retinal capillary hemangioma, Hyp...	OMIM:193300
Cardiomyopathy, Familial Restrictive, 6	Hepatic artery hyperplasia, Hepatomegaly, Portal vein hypoplasia, Ascites	OMIM:619433
Spondyloepiphyseal Dysplasia, Maroteaux Type	Genu valgum, Mucopolysacchariduria, Generalized osteoporosis, Short palm, Short femoral neck, Opa...	OMIM:184095
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Tremor, Cardiomyopathy, Athetosis, Dystonia, Thrombocytopenia, Hypoglycemia, Rod-c...	OMIM:617710
Brucellosis	Intrarenal abscess, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Abnormality of the perip...	ORPHA:1304
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Tremor, Opisthotonus, Methemoglobinemia	OMIM:250800
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Eosinophilia, Failure to thrive, Neutrophilia, Thrombocytope...	OMIM:226990
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Optic atrophy, Hypoglycemic seizures, Prolonged QT interval, Elevated circulating hepatic transam...	ORPHA:480864
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Arthritis, Abnormal ly...	ORPHA:47612
Fraser Syndrome 1	Clitoral hypertrophy, Renal hypoplasia/aplasia, Abnormal middle ear morphology, Abnormal pinna mo...	OMIM:219000
Leigh Syndrome	3-Methylglutaconic aciduria, Generalized aminoaciduria, Abnormal optic nerve morphology, Complex ...	ORPHA:506
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Clitoral hypertrophy, Microphthalmia, Hypospadias, Abnormal fallopian tube morphology...	ORPHA:2556
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Anemia, Hyperalaninemia, Failure to thrive, Elevated circulating acylcarnitine concentration, Abn...	OMIM:615838
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentratio...	OMIM:614921
Jacobsen Syndrome	Optic atrophy, Annular pancreas, Clinodactyly of the 5th finger, Hypospadias, Labial hypoplasia, ...	OMIM:147791
Porphyria Variegata	Elevated urinary delta-aminolevulinic acid, Scarring, Anemia, Increased urinary porphobilinogen, ...	ORPHA:79473
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cat...	ORPHA:2250
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal...	ORPHA:101330
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Weight loss	ORPHA:66661
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli...	ORPHA:240
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Hypertension, Corneal scarring, Retinal hemorrhage, Hand clenching, Flexion contract...	OMIM:614653
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
D-Bifunctional Protein Deficiency	Osteopenia, Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Decreas...	OMIM:261515
Tay-Sachs Disease	Optic atrophy, Limited elbow extension, Memory impairment, Depression, Increased serum beta-hexos...	ORPHA:845
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar...	ORPHA:171673
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion	OMIM:608470
De Barsy Syndrome	Osteopenia, Athetosis, Corneal opacity, Low-set ears, Bilateral sensorineural hearing impairment,...	ORPHA:2962
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Flexion contracture of toe, Elevat...	OMIM:256040
Harrod Syndrome	Protruding ear, Abnormal shoulder morphology, Hypospadias, Abnormal pelvic girdle bone morphology...	ORPHA:2115
Pediatric-Onset Graves Disease	Irritability, Congestive heart failure, Jaundice, Hepatomegaly, Elevated circulating hepatic tran...	ORPHA:525731
Dyrk1A-Related Intellectual Disability Syndrome	Corneal opacity, Arachnodactyly, Polydactyly, Breast hypoplasia, Astigmatism, Hypospadias, Pelvic...	ORPHA:464306
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis,...	OMIM:619802
Familial Dysautonomia	Optic atrophy, Abnormality of the kidney, Glomerulopathy, Corneal erosion, Orthostatic hypotensio...	ORPHA:1764
Stt3B-Cdg	Optic atrophy, Failure to thrive, Thrombocytopenia, Small scrotum, Cryptorchidism, Micropenis	ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix	Optic atrophy, Failure to thrive, Thrombocytopenia, Small scrotum, Cryptorchidism, Micropenis	OMIM:615597
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Hypertension, Cholestasis, Ascites, Lymphopenia, Decreased CD4:CD8 ratio, H...	OMIM:619573
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertr...	OMIM:606003
Legionnaires Disease	Myocarditis, Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hypotension, Hepatitis, Hyponatr...	ORPHA:549
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level, Hypertension, Abnormality of circulating cortisol...	ORPHA:320
Oculocerebrocutaneous Syndrome	Finger syndactyly, Abnormal pinna morphology, Corneal opacity, Congenital hip dislocation, Hearin...	ORPHA:1647
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Spider hemangioma, Cholestasis, Ascites,...	ORPHA:171
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Diamond-Blackfan Anemia	Normochromic anemia, Macrocytic dyserythropoietic anemia, Abnormal heart morphology, Absent thumb...	ORPHA:124
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Hepatomegaly, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedulla...	OMIM:612840
Braddock-Carey Syndrome 1	Camptodactyly, Macrotia, Thrombocytopenia, Posteriorly rotated ears, Multicystic kidney dysplasia...	OMIM:619980
Central Retinal Vein Occlusion	Retinal neovascularization, Cystoid macular edema, Macular degeneration, Intraretinal hemorrhage,...	ORPHA:411527
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic tra...	OMIM:615895
Joubert Syndrome 16	Polydactyly, Nephronophthisis, Retinal dystrophy, Coloboma, Renal cyst	OMIM:614465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Atrial septal defect, Transposition of the great arteries, Retinal dysplasia, Reti...	OMIM:253800
Joubert Syndrome 39	Retinal dystrophy, Joint contracture of the 5th finger, Polycystic kidney dysplasia, Postaxial po...	OMIM:619562
Pseudo-Torch Syndrome 1	Hepatomegaly, Low-set ears, Failure to thrive, Dystonia, Thrombocytopenia, Splenomegaly, Cataract...	OMIM:251290
Liddle Syndrome	Hypokalemia, Renal insufficiency, Hypertension, Cerebral ischemia, Arrhythmia, Nephropathy	ORPHA:526
Methemoglobinemia And Ambiguous Genitalia	Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Elevated circulating...	OMIM:250790
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Anemia, Abnormality of the medullary cavity of the long bones, Hypopa...	OMIM:127000
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Prolonged QT interval, Hypoplasia of penis...	ORPHA:373
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Corneal opacit...	ORPHA:1052
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Inguinal hernia, Abnormal fallopian tube morphology, Hypocalcemia, Abnormal renal m...	ORPHA:1655
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Renal dysplasia, Multicy...	ORPHA:3032
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal pelvic girdle bone morphology...	ORPHA:1834
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly...	ORPHA:540
Histiocytosis-Lymphadenopathy Plus Syndrome	Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic ste...	OMIM:602782
Autosomal Dominant Optic Atrophy, Classic Form	Optic atrophy, Morning glory anomaly, Macrocytic anemia, Temporal optic disc pallor, Cognitive im...	ORPHA:98673
Eales Disease	Ischemic stroke, Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, ...	ORPHA:40923
Adrenocortical Carcinoma	Irritability, Elevated serum 11-deoxycortisol, Hypokalemia, Palpitations, Hypertension, Increased...	ORPHA:1501
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Hepatomegaly, Anemia, Lymphadenopathy, Reduced bon...	ORPHA:667
Cerebrotendinous Xanthomatosis	Osteopenia, Optic atrophy, Abnormal femur morphology, Abnormal tibia morphology, Decreased nerve ...	ORPHA:909
Immunodeficiency 47	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circu...	OMIM:300972
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Intrauterine growth retardation, Failure to thrive, Hepatomegaly, Short stature	ORPHA:50812
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elev...	OMIM:615381
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp...	OMIM:246700
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Decreased liver function, Hepatomegaly, Anemia, Hypertrophic cardiomyopathy, Incre...	OMIM:220110
Acth Deficiency, Isolated	Jaundice, Cholestasis, Decreased circulating cortisol level	OMIM:201400
Fryns Syndrome	Microphthalmia, Aganglionic megacolon, Clinodactyly of the 5th finger, Hypospadias, Low-set, post...	ORPHA:2059
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Splenomegaly	ORPHA:79292
Ivic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T...	OMIM:147750
Glossopharyngeal Neuralgia	Abnormal glossopharyngeal nerve morphology, Bradycardia, Depression, Cranial nerve compression, J...	ORPHA:221098
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Mye...	ORPHA:457077
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Progressive psychomotor deterioration, Orthostatic hypotensio...	OMIM:268800
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Optic d...	OMIM:619170
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Wagro Syndrome	Hypoplastic female external genitalia, Aniridia, Corneal opacity, Low-set ears, Cataract, Decreas...	OMIM:612469
Late-Infantile/Juvenile Krabbe Disease	Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ...	ORPHA:206443
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Microphthalmi...	OMIM:616300
Chime Syndrome	Acute leukemia, Abnormality of the kidney, Aplasia/Hypoplasia of the phalanges of the toes, Corne...	ORPHA:3474
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Multicystic kidney dysplasia, Renal insufficiency, Cardiomyopat...	ORPHA:1909
Wolfram Syndrome	Optic atrophy, Gastrointestinal hemorrhage, Male hypogonadism, Anemia, Recurrent urinary tract in...	ORPHA:3463
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Decreased liver function, Elevated circulating hepatic transaminase concent...	ORPHA:167
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaconic aciduria, Neonatal hypoglycemia, Jaundice, Bradycardia, Tremor, Failure to thr...	OMIM:617248
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly, Hypoglycemia, Aminoaciduria, Hepatic failure	ORPHA:664
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hyperbilirubinemia, Posterior pituitary hypoplasia, Hypoglycemia, Ectopic ...	OMIM:613986
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Osteopenia, Hypoparathyroidism, Congenital megaureter, Slender long bone, H...	ORPHA:369837
Lathosterolosis	Anisopoikilocytosis, Hepatomegaly, Hypoplasia of penis, Microcornea, Postaxial hand polydactyly, ...	ORPHA:46059
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Oste...	OMIM:127550
Say Syndrome	Ulnar deviation of the 3rd finger, Macrotia, Proximal renal tubular acidosis, Short distal phalan...	OMIM:181180
Meckel Syndrome, Type 10	Hypospadias, Abnormal pinna morphology, Postaxial hand polydactyly, Camptodactyly, Renal cyst, Po...	OMIM:614175
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Decreased circulating carnitine concentration, Elevated circul...	OMIM:201475
Primary Hyperoxaluria	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Retinopathy, Nephrocalci...	ORPHA:416
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Iris coloboma, Patent foramen ovale, Hypoplastic nipples, Facial palsy, Thyroid hypoplasia, Pulmo...	OMIM:620186
Stromme Syndrome	Preaxial polydactyly, Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Microcornea, Low-...	OMIM:243605
Bacterial Toxic-Shock Syndrome	Cellulitis, Elevated circulating creatinine concentration, Glomerulonephritis, Myocarditis, Hypoc...	ORPHA:36234
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Astigmatism, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Ta...	ORPHA:464311
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	ORPHA:99901
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Premature pubarche, Penoscrotal hypospadias, Hypospadias, Scrotal hypospadias, Bifi...	OMIM:201810
Sitosterolemia 1	Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic he...	OMIM:210250
Lysinuric Protein Intolerance	Hepatomegaly, Oroticaciduria, Pancreatitis, Hemophagocytosis, Anemia, Pulmonary hemorrhage, Recur...	OMIM:222700
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro...	OMIM:610717
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Optic atrophy, Genu valgum, Anemia, Metaphyseal sclerosis, Retinal telangiectasia, Ga...	OMIM:612199
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Joint stiffness, Camptodactyl...	OMIM:607015
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Panniculitis, Pancytopenia, Splenomegaly, Increas...	OMIM:618398
Meckel Syndrome, Type 5	Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Renal cyst, Bile duct proli...	OMIM:611561
Pseudohypoaldosteronism, Type Iia	Hyperkalemia, Hypertension	OMIM:145260
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Glutaric aciduria, Increased level of hippuric acid in urine, Hepatomegaly, Anemia, Hyperuricemia...	OMIM:246450
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Anemia, Calvarial osteosclerosis, Congenital hypoparathyroidism, Retinal c...	ORPHA:93325
Osteogenesis Imperfecta	Mixed hearing impairment, Reduced bone mineral density, Abnormal femur morphology, Abnormal hip b...	ORPHA:666
Transketolase Deficiency	Atrial septal defect, Hepatomegaly, Increased level of ribose in urine, Elevated circulating ribi...	ORPHA:488618
Tangier Disease	Hypertriglyceridemia, Anemia, Peripheral axonal neuropathy, Facial diplegia, Chronic noninfectiou...	ORPHA:31150
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent fractures, Hyperparathyroidism	OMIM:618107
Spastic Paraplegia 29, Autosomal Dominant	Urinary incontinence, Urinary hesitancy, Urinary urgency, Nocturia, Neonatal hyperbilirubinemia, ...	OMIM:609727
Autosomal Dominant Hypocalcemia	Optic atrophy, Congestive heart failure, Reduced bone mineral density, Writer's cramp, Hypercalci...	ORPHA:428
Norrie Disease	Optic atrophy, Microphthalmia, Buphthalmos, Sensorineural hearing impairment, Corneal opacity, Hy...	OMIM:310600
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Pulmonic stenosis, Abnormal heart morphology, Decreased circulating iron concentration, Joint hyp...	ORPHA:438213
Andersen Cardiodysrhythmic Periodic Paralysis	Clinodactyly of the 5th toe, Prolonged QT interval, Prominent U wave, Short metacarpal, Joint hyp...	OMIM:170390
Aica-Ribosiduria Due To Atic Deficiency	Optic atrophy, Clitoral hypertrophy, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside lev...	OMIM:608688
Cohen Syndrome	Optic atrophy, Decreased response to growth hormone stimulation test, Genu valgum, Bone spicule p...	OMIM:216550
Congenital Hereditary Endothelial Dystrophy Type Ii	Sensorineural hearing impairment, Corneal stromal edema, Corneal opacity, Abnormal Descemet membr...	ORPHA:293603
Gm1 Gangliosidosis Type 1	Increased urinary galactosylated oligosaccharide, Broad long bone diaphyses, Short long bone, Car...	ORPHA:79255
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Hypocalcemia, Elbow flexion contracture, Mucopolysacchariduria, Ren...	OMIM:618440
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Abnormality of somatosensory evoked potentials, Recurrent urinary tract ...	ORPHA:99027
Van Den Ende-Gupta Syndrome	Dislocated radial head, Small earlobe, Femoral bowing, Arachnodactyly, Slender metacarpals, Crani...	OMIM:600920
Blue Diaper Syndrome	Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Increased body weight...	ORPHA:94086
Genitopalatocardiac Syndrome	Low-set ears, Hypospadias, Renal cyst, Gonadal dysgenesis, male	OMIM:231060
Mucopolysaccharidosis Type 6	Abnormal metaphysis morphology, Chronic otitis media, Genu valgum, Mucopolysacchariduria, Failure...	ORPHA:583
Argininosuccinic Aciduria	Hepatomegaly, Increased circulating argininosuccinic acid, Hyperammonemia, Episodic ammonia intox...	OMIM:207900
Telangiectasia, Hereditary Hemorrhagic, Type 5	Elevated circulating hepatic transaminase concentration, Portal hypertension	OMIM:615506
Distal Deletion 6P	Abnormal anterior chamber morphology, Clinodactyly of the 5th finger, Corneal opacity, Low-set ea...	ORPHA:96125
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Femur fracture, Osteopetrosis, Hypocalcemic seizures, Anemia, Hepatomegaly, Optic ...	OMIM:612301
Scorpion Envenomation	Prominent U wave, Hypertension, Premature ventricular contraction, T-wave inversion, Myocarditis,...	ORPHA:466677
Joubert Syndrome 7	Nephronophthisis, Genu valgum, Postaxial hand polydactyly, Renal cyst, Postaxial polydactyly, Sta...	OMIM:611560
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Optic atrophy, 3-Methylglutaconic aciduria, Hepatomegaly, Neutropenia, Myoglobinuria, Elevated ci...	OMIM:251900
Congenital Disorder Of Glycosylation, Type Iie	Decreased liver function, Congestive heart failure, Perimembranous ventricular septal defect, Jau...	OMIM:608779
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Recurrent urinary trac...	OMIM:613179
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Optic atrophy, Clinodactyly of the 5th finger, Triphalangeal thumb, Sensorineural hearing impairm...	OMIM:220500
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Rickets, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hy...	OMIM:134600
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Osteopenia, Optic atrophy, Abnormal ilium morphology, Abnormal meta...	ORPHA:168549
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Depression, Exaggerated startle response	OMIM:620114
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Steatorrhea, Hepatomegaly, Proximal placement of thumb, Pancreatic fibrosis, Ulnar deviation of t...	OMIM:616263
Acquired Methemoglobinemia	Tachycardia, Confusion, Arrhythmia, Syncope, Palpitations, Methemoglobinemia	ORPHA:464453
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hyperechogenic pancreas, Hepatomegaly, Steatorrhea, Failure to thrive, Metaphy...	OMIM:617941
Arthrogryposis Multiplex Congenita 5	Rocker bottom foot, Limitation of knee mobility, Umbilical hernia, Adducted thumb, Acanthocytosis...	OMIM:618947
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Diamond-Blackfan Anemia 1	Macrocytic anemia, Absent thumb, Congenital hypoplastic anemia, Neutropenia, Hypoplasia of the ra...	OMIM:105650
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Trisomy 20P	Abnormality of the kidney, Protruding ear, Reduced bone mineral density, Hypospadias, Abnormal hi...	ORPHA:261318
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Inguinal hernia, Hypocalcemia, Hypoproteinemia, Postaxial hand polydactyly, Ascites...	OMIM:235255
Joubert Syndrome 20	Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly	OMIM:614970
Dubowitz Syndrome	Aplastic anemia, Clinodactyly of the 5th finger, Hypospadias, Inguinal hernia, Short attention sp...	OMIM:223370
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Joint stiffness, Splenomegaly, Rod-c...	OMIM:252930
Proximal Spinal Muscular Atrophy	Bradycardia, Elbow flexion contracture, Facial diplegia, Flexion contracture, Knee flexion contra...	ORPHA:70
Mucopolysaccharidosis Type 1	Abnormal metaphysis morphology, Chronic otitis media, Optic atrophy, Abnormal hip bone morphology...	ORPHA:579
Tyrosinemia, Type Iii	Elevated circulating hepatic transaminase concentration, Hypertyrosinemia	OMIM:276710
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Abnormality of the gallbladder, Anemia, Renal cell carcinoma, Enlarg...	ORPHA:2869
Multiple Sulfatase Deficiency	Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Broad thumb, Hearing impairment, Broad hall...	OMIM:272200
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L...	OMIM:603909
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Broad thumb, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Clinodactyly, Neutropenia,...	OMIM:612541
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level, Hypertension, Patent foramen ovale, Nephrolithias...	OMIM:615474
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short finger, Hip subluxation, Epiphyseal stippling, Flared metaphysis, Triangular shaped distal ...	OMIM:271665
Incontinentia Pigmenti	Microphthalmia, Finger syndactyly, Abnormal hand morphology, Corneal opacity, Absent hand, Deviat...	ORPHA:464
Joubert Syndrome 21	Optic atrophy, Megalopapilla, Anophthalmia, Sensorineural hearing impairment, Renal cyst, Hyperec...	OMIM:615636
Trisomy 10P	Abnormality of the kidney, Ulnar deviated club hands, Rectovaginal fistula, EEG with burst suppre...	ORPHA:171929
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo...	OMIM:133780
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Combined Oxidative Phosphorylation Deficiency 53	Short stature, Failure to thrive, Hepatomegaly, Elevated circulating C-reactive protein concentra...	OMIM:619423
Mucopolysaccharidosis, Type Iva	Genu valgum, Hepatomegaly, Keratan sulfate excretion in urine, Osteoporosis, Hearing impairment, ...	OMIM:253000
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Elbow flexion contracture, Low-set ears, Exaggerated startle response, Hand clench...	OMIM:617301
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypokalemia, Hypercalciuria, Failure to thrive, Nephrocalcinosis, Distal renal tubular a...	OMIM:602722
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Increased total iron binding capacity, Jaundice, Hepatomegaly, Elevated circulating hepatic trans...	ORPHA:309854
Cholera	Acute kidney injury, Irritability, Hypokalemia, Tachycardia, Hypocalcemia, Hypotension, Hypovolem...	ORPHA:173
Erythrocytosis, Familial, 2	Failure to thrive, Increased circulating hemoglobin concentration, Increased red blood cell mass,...	OMIM:263400
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Recurrent fractures, Primary hyperpar...	OMIM:239200
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Cachexia, Ascites, Splenomegaly, Prolo...	ORPHA:75565
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Ambiguous genitalia, male, Precocious puberty in females, Hypertension, Aplasia of the uterus, Bi...	ORPHA:90793
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Hypertension, Ventricular hypertrophy, Nephrolithiasis, Pulmonary arterial hypertens...	ORPHA:369929
Pelvis-Shoulder Dysplasia	Microphthalmia, Clinodactyly of the 5th finger, Hypoplastic acetabulae, Short clavicles, Hypoplas...	OMIM:169550
Chromosome 8Q21.11 Deletion Syndrome	Protruding ear, Microphthalmia, Sensorineural hearing impairment, Low-set ears, Short metacarpal,...	OMIM:614230
Mucopolysaccharidosis Type 2	Hypertension, Cardiomyopathy, Cognitive impairment, Abnormal epiphyseal ossification, Abnormal mi...	ORPHA:580
Cockayne Syndrome	Urinary incontinence, Elevated circulating hepatic transaminase concentration, Cachexia, Hyperten...	ORPHA:191
Charcot-Marie-Tooth Disease Type 1F	Urinary incontinence, Decreased nerve conduction velocity, Sensorineural hearing impairment, Opti...	ORPHA:101085
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, ...	OMIM:179800
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Shor...	ORPHA:98907
Joubert Syndrome 14	Optic atrophy, Irritability, Coloboma, Hypertension, Renal cyst, Postaxial polydactyly, Intracran...	OMIM:614424
Immunodeficiency 42	Hepatomegaly, Splenomegaly	OMIM:616622
Triosephosphate Isomerase Deficiency	Congestive heart failure, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic ane...	OMIM:615512
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ...	OMIM:147250
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Clinodactyly of the 5th finger, Abnormality of cartilag...	ORPHA:2399
Atelis Syndrome 2	Hyperinsulinemia, Anemia, Vitreous hemorrhage, Supravalvar pulmonary stenosis, Remnants of the hy...	OMIM:620185
Intellectual Developmental Disorder, X-Linked 112	Bicuspid aortic valve, Ectopic kidney, Hypospadias, Horseshoe kidney, Joint hypermobility, Enures...	OMIM:301111
Bardet-Biedl Syndrome 20	Pancreatitis, Elevated circulating hepatic transaminase concentration, 2-3 toe syndactyly, Postax...	OMIM:619471
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ...	OMIM:305390
Proboscis Lateralis	Microphthalmia, External genital hypoplasia, Unilateral renal agenesis, Anophthalmia, Optic nerve...	ORPHA:141099
Bohring-Opitz Syndrome	Hyperechogenic pancreas, Dislocated radial head, Mesomelic/rhizomelic limb shortening, Vesicouret...	OMIM:605039
C Syndrome	Clitoral hypertrophy, Radial deviation of finger, Hepatomegaly, Renal cortical cysts, Dislocated ...	OMIM:211750
Congenital Disorder Of Deglycosylation 1	3-Methylglutaconic aciduria, Decreased sensory nerve conduction velocity, Hepatomegaly, Corneal u...	OMIM:615273
Combined Oxidative Phosphorylation Deficiency 4	Intrauterine growth retardation, Hyperammonemia, Hepatomegaly	OMIM:610678
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Abnormality of blood circulation, Abnormal mitral valve morphology, Heart m...	ORPHA:860
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Hypertension, Cerebral ischemia, P...	ORPHA:904
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Abnormal au...	OMIM:601559
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat...	OMIM:256810
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Pancreatitis, Hypocalciuria, Depression, Parathormone-independent increased rena...	OMIM:600740
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Syncope, Palpitations, Sec...	OMIM:616812
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, Clitoral hypertrophy, Prolonged neonatal jaundice, Renal cortical microcysts,...	OMIM:214100
Moebius Syndrome	Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Breast aplasi...	ORPHA:570
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Unilateral renal agenesis, Short metatarsal, Cone-shaped epiphyses of the phalange...	OMIM:101800
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Sandal gap, Joint ...	OMIM:619127
2P15P16.1 Microdeletion Syndrome	Optic atrophy, Supernumerary nipple, Aortic regurgitation, Sandal gap, Inguinal hernia, Optic ner...	ORPHA:261349
Tbck-Related Intellectual Disability Syndrome	Broad finger, Decreased response to growth hormone stimulation test, Broad toe, Neurogenic bladde...	ORPHA:488632
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Yunis-Varon Syndrome	Rocker bottom foot, Clitoral hypertrophy, Microphthalmia, Absent sternal ossification, Abnormal f...	ORPHA:3472
Pagod Syndrome	Congenital diaphragmatic hernia, Situs inversus totalis, Optic atrophy, Renal hypoplasia/aplasia,...	ORPHA:991
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Cachexia, Leukocytosis, Port...	ORPHA:824
Genitopatellar Syndrome	Clitoral hypertrophy, Knee flexion contracture, Low-set ears, Hypoplastic ilia, Hypoplastic ischi...	ORPHA:85201
Vacterl/Vater Association	Congenital diaphragmatic hernia, Abnormality of the gallbladder, Ectopic kidney, Hypospadias, Hyp...	ORPHA:887
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	ORPHA:159
Renal Coloboma Syndrome	Optic nerve dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hearing impairment, R...	ORPHA:1475
Holt-Oram Syndrome	Proximal placement of thumb, Cervical C2/C3 vertebral fusion, Aplasia of the 1st metacarpal, 1-2 ...	OMIM:142900
Encephalitis Lethargica	Stiff neck, Urinary incontinence, Bradycardia, Tremor, Mental deterioration	ORPHA:83600
Sickle Cell Disease	Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Hypertension, Leukocytosis, Splenic infarction...	OMIM:603903
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Hypokalemia, Clubbing of fingers, Hypocalcemia, Cachexia, Clubbing, Hypomagnesemia, Hemat...	OMIM:175500
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Radial deviation of finger, Hypochromic microcytic anemia, Hypospadias, Talipes e...	OMIM:301040
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Hepatic steatosis	ORPHA:79085
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Shigellosis	Myocarditis, Urethritis, Acute kidney injury, Hemolytic-uremic syndrome, Arthritis, Splenic absce...	ORPHA:810
Microphthalmia/Coloboma 12	Microphthalmia, Vesicoureteral reflux, Corneal opacity, Optic nerve aplasia, Optic disc coloboma,...	OMIM:120200
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Polyuria, Hypokalemia, Reduced left ventricular ejection fraction, Hypocalcemia, Elevated left ve...	OMIM:620152
Meckel Syndrome, Type 7	Situs inversus totalis, Atrial septal defect, Multiple glomerular cysts, Multicystic kidney dyspl...	OMIM:267010
Kleefstra Syndrome	Supernumerary nipple, Hypospadias, Hypoplasia of penis, Tracheomalacia, Vesicoureteral reflux, Ve...	ORPHA:261494
2Q37 Microdeletion Syndrome	Clinodactyly of the 5th finger, Supernumerary nipple, Joint hypermobility, Tracheomalacia, Finger...	ORPHA:1001
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Ascites, Short stature, Splenom...	ORPHA:381
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short metacarpal, Renal cyst, Metaphyseal dysplasia, Brachydactyly, Metaphyseal chondrodysplasia,...	OMIM:250410
Combined Oxidative Phosphorylation Deficiency 58	Optic atrophy, Hyperalaninemia, Exaggerated startle response, Hypoglycemia, Hyperprolinemia, Lact...	OMIM:620451
Zika Virus Disease	Optic disc hypoplasia, Arthritis, Chorioretinal atrophy, Abnormal optic disc morphology, Thromboc...	ORPHA:448237
Ivic Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Rectovaginal fistula, Synostosis of carpal bones, ...	ORPHA:2307
Trisomy 8P	Clinodactyly of the 5th toe, Clinodactyly of the 2nd finger, Nephrocalcinosis, Heart murmur, Over...	ORPHA:264450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Microphthalmia, Peters anomaly, Optic nerve hypoplasia, Hypoplastic male external ...	OMIM:236670
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Myocardial eosinophilic...	ORPHA:3260
Alagille Syndrome 2	Cholestatic liver disease, Hematuria, Renal tubular acidosis, Hypertension, Cholestasis, Renal cy...	OMIM:610205
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre...	ORPHA:98973
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normochromic anemia, Splenomegaly, Abnormal mast cell morphology, Normocytic anemia, Acute myeloi...	ORPHA:98849
Mosaic Variegated Aneuploidy Syndrome 1	Hypospadias, Multicystic kidney dysplasia, Bifid scrotum, Low-set ears, Renal cyst, Cataract, Sho...	OMIM:257300
Gm1-Gangliosidosis, Type Ii	Optic atrophy, Sea-blue histiocytosis, Hepatomegaly, Progressive psychomotor deterioration, Thin ...	OMIM:230600
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Carpal bone hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal striations, Flared meta...	OMIM:610442
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, In...	OMIM:618454
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Abnormal optic disc morphology, Broad thumb, Bicuspid aortic valve, Short...	ORPHA:508498
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Cirrhosis, Jaundice, Hepatomegaly,...	ORPHA:57777
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Fryns Syndrome	Rocker bottom foot, Microphthalmia, Ureteral duplication, Proximal placement of thumb, Prominent ...	OMIM:229850
Fraser Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Hypoplasia of penis, Abnormal vagina morphology, Abnorm...	ORPHA:2052
Meckel Syndrome, Type 2	Polydactyly, Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Renal cyst, Bi...	OMIM:603194
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Elevated circulating creatinine concentration, Anemia, Orthostatic hypotension,...	ORPHA:230
Mucopolysaccharidosis, Type Ii	Congestive heart failure, Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Tracheo...	OMIM:309900
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, 2-3 toe syndactyly, Truncus arteriosus, Ventricular septal def...	OMIM:617516
Mucopolysaccharidosis, Type Vi	Genu valgum, Hepatomegaly, Hypoplastic iliac wing, Hypoplastic acetabulae, Split hand, Corneal op...	OMIM:253200
Nabais Sa-De Vries Syndrome, Type 2	Clinodactyly of the 5th finger, Microtia, Low-set ears, Dystonia, Posteriorly rotated ears, Protr...	OMIM:618829
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Rickets, Hypokalemia, Cognitive impairment, Glycosuria, Hyperph...	ORPHA:411629
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Optic nerve hypoplasia, Exaggerated startle response, Failure to thrive, Macrotia, Joint contract...	OMIM:617864
Thomas Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3316
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating alanine aminotr...	OMIM:614924
Colchicine Poisoning	Myocarditis, Abnormal blood ion concentration, Congestive heart failure, Hypokalemia, Hypocalcemi...	ORPHA:31824
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Progressive hearing impairment, Acute monocytic leukemia, Leukocytosis, We...	ORPHA:514
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Joint stiffness, Splenomegaly, Progr...	OMIM:252920
Neuromuscular Oculoauditory Syndrome	Peripheral hypomyelination, Decreased nerve conduction velocity, Sensory axonal neuropathy, Wrist...	OMIM:618733
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc	OMIM:601979
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Myoglobinuria, Elevated c...	OMIM:620300
Mend Syndrome	Microphthalmia, 2-3 toe syndactyly, Abnormal auditory evoked potentials, Low-set ears, Failure to...	ORPHA:401973
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Hypoplasia of penis, Joint stiffness, Hypogonadism...	ORPHA:1606
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly, Cherry red spot of the macula, Mitral valve pro...	ORPHA:309155
Hurler Syndrome	Hepatomegaly, Abnormal diaphysis morphology, Abnormal nerve conduction velocity, Corneal opacity,...	ORPHA:93473
Peroxisome Biogenesis Disorder 4A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Renal cyst, Epiphys...	OMIM:614862
Polyendocrine-Polyneuropathy Syndrome	Anterior pituitary hypoplasia, Hypoglycemia, Decreased testicular size, Dystonia, Elevated hemogl...	OMIM:616113
Jacobsen Syndrome	Annular pancreas, Iris coloboma, Inguinal hernia, Finger syndactyly, Ventricular septal defect, T...	ORPHA:2308
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Cerebral atrophy, Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment agang...	OMIM:609136
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Tricuspid regurgitation, Renal hypoplasia, Foot oligodac...	OMIM:616589
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat...	OMIM:617713
Branchiooculofacial Syndrome	Microphthalmia, Proximal placement of thumb, Sensorineural hearing impairment, Microtia, Hypospad...	OMIM:113620
Congenital Pulmonary Lymphangiectasia	Growth delay, Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch...	ORPHA:412
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Tempi Syndrome	Abnormality of the kidney, Polycythemia, Increased hematocrit	ORPHA:284227
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Decreased circulating renin level, Hypertension, Hyperchloremia	OMIM:614492
Gorham-Stout Disease	Hearing impairment, Abnormality of the internal auditory canal	ORPHA:73
Larsen Syndrome	Spatulate thumbs, Multiple carpal ossification centers, Short metatarsal, Talipes equinovarus, Tr...	OMIM:150250
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Cachexia, Splenomegaly, Abnormal blood i...	ORPHA:37042
East Syndrome	Renal salt wasting, Peripheral hypomyelination, Hypokalemia, Peripheral axonal neuropathy, Enures...	ORPHA:199343
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Conjunctival tela...	OMIM:619774
Takenouchi-Kosaki Syndrome	Optic atrophy, Proximal placement of thumb, Unilateral renal agenesis, Hypospadias, Inguinal hern...	OMIM:616737
Hajdu-Cheney Syndrome	Partial absence of toe, Decreased skull ossification, Aortic valve stenosis, Multiple renal cysts...	ORPHA:955
Waardenburg Syndrome, Type 2E	Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ...	OMIM:611584
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Hepatomegaly, Fused cervical vertebrae, Elevated circulating C-reactive ...	OMIM:612852
Multiple Myeloma	Osteopenia, Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic s...	ORPHA:29073
Ectodermal Dysplasia-Blindness Syndrome	Protruding ear, Microphthalmia, Corneal dystrophy, Microcornea, Hearing impairment, Sclerocornea,...	ORPHA:1806
Ichthyosis, X-Linked	Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism	OMIM:308100
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc...	OMIM:115200
Combined Oxidative Phosphorylation Deficiency 39	Congenital contracture, Sinus bradycardia, Joint contracture, Flexion contracture, Dystonia, Type...	OMIM:618397
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, Multiple renal cysts, Renal cyst	OMIM:614883
Isolated Complex I Deficiency	Hepatomegaly, Proximal tubulopathy, Increased serum pyruvate, Hypertrophic cardiomyopathy, Optic ...	ORPHA:2609
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Elevated circulating ...	OMIM:614817
Meckel Syndrome, Type 3	Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation	OMIM:607361
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Optic atrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Opisthotonus, Retinal degeneration	OMIM:616896
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Fetal megacystis, Low-set ears, Arachnodactyly, Short palm, Protruding ear, To...	ORPHA:73246
Plaa-Associated Neurodevelopmental Disorder	Rocker bottom foot, Optic atrophy, Low-set, posteriorly rotated ears, Hypsarrhythmia, Hyperextens...	ORPHA:521426
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Astigmatism, Flexion contracture	OMIM:270200
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Failure to thrive, Increased...	ORPHA:528
Glycogen Storage Disease Ii	Urinary incontinence, Hepatomegaly, Increased circulating NT-proBNP concentration, Wolff-Parkinso...	OMIM:232300
Proximal 16P11.2 Microdeletion Syndrome	Sensorineural hearing impairment, Failure to thrive, Obesity, Hand polydactyly, Dystonia, Conduct...	ORPHA:261197
Hyperoxaluria, Primary, Type I	Optic atrophy, Hematuria, Choroidal neovascularization, Pathologic fracture, Calcium oxalate neph...	OMIM:259900
Bartter Syndrome, Type 1, Antenatal	Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperaldosteronism, ...	OMIM:601678
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Corneopalpebral synechiae, Vaginal atresia, Anophthalmia	OMIM:248450
Alagille Syndrome 1	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Cholestasis, Prolo...	OMIM:118450
Nelson Syndrome	Optic nerve compression, Hypokalemia, Secondary hypercortisolism, Testicular neoplasm, Anterior h...	ORPHA:199244
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils, Clinodactyly of the 5th finger, Ra...	ORPHA:2760
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Sensory axonal neuropathy, Exaggerated startle response, Flexion contracture, Moto...	OMIM:609541
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Isosexual precocious puberty, Hypok...	ORPHA:90795
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Pancreatitis	ORPHA:435651
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Recurrent otitis media, Microtia, Corneal opacity, Keratitis, Posteriorly rotated ears, Conjuncti...	OMIM:602562
Galloway-Mowat Syndrome 1	Optic atrophy, Microphthalmia, Low-set ears, Focal segmental glomerulosclerosis, Camptodactyly, N...	OMIM:251300
Mercury Poisoning	Acute kidney injury, Hypokalemia, Confusion, Hypertension, Tremor, Hypotension, Dystonia, Tachyca...	ORPHA:330021
Hypocalcemia, Autosomal Dominant 1	Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,...	OMIM:601198
Chromosome 18Q Deletion Syndrome	Rocker bottom foot, Proximal placement of thumb, Aortic valve stenosis, Umbilical hernia, Joint h...	OMIM:601808
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kinase conce...	ORPHA:435660
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Clitoral hypertrophy, Renal hypoplasia/aplasia, Abnormality of t...	ORPHA:818
Immunodeficiency 40	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con...	OMIM:616433
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypokalemia, Hypercalciuria, Hypertension, Glucocortocoid-insensitive prim...	ORPHA:251274
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Abnorm...	ORPHA:363417
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated circulating hepatic transaminase concentration, Decreased transferrin saturation, Growth...	ORPHA:300298
Infantile Krabbe Disease	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc...	ORPHA:206436
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Elevated circulating creatinine concentration, Anemia, Decreased glomerular f...	OMIM:174000
Bartsocas-Papas Syndrome 1	Microphthalmia, Ectopic kidney, Hypoplastic iliac wing, Microtia, Oligodactyly, Short metacarpal,...	OMIM:263650
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Bilateral talipes equinovarus, Atresia of the external auditory canal, Mesomelia, Limb undergrowt...	OMIM:601356
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Aicardi-Goutieres Syndrome 7	Hematemesis, Hypertension, Hematochezia, Splenomegaly, Hepatic steatosis, Irritability, Pancytope...	OMIM:615846
Mucopolysaccharidosis Type 2, Attenuated Form	Hypertension, Cardiomyopathy, Dermatan sulfate excretion in urine, Cognitive impairment, Abnormal...	ORPHA:217093
Mckusick-Kaufman Syndrome	Hydrometrocolpos, Renal hypoplasia/aplasia, Tarsal synostosis, Abnormal metacarpal morphology, Ag...	ORPHA:2473
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Microphthalmia/Coloboma 9	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Low-set ears, Macrotia, Scleroco...	OMIM:615145
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response, Dementia	OMIM:272750
Dyskeratosis Congenita	Abnormality of neutrophils, Neoplasm of the pancreas, Cirrhosis, Hepatomegaly, Anemia, Recurrent ...	ORPHA:1775
Short-Rib Thoracic Dysplasia 12	Short long bone, Ascites, Splenomegaly, Cystic renal dysplasia, Short finger, Inguinal hernia, Pa...	OMIM:269860
Cerebrotendinous Xanthomatosis	Xanthelasma, Cholelithiasis, Delayed somatosensory central conduction time, Angina pectoris, Abno...	OMIM:213700
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Irritability, Hepatomegaly, Emotional lability, Tremor, Decreased testicular size, Failure to thr...	OMIM:201100
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Decreased methionine synthase activity, Hepatomegaly, Methylmalonic acidemia, Hyperhomocystinemia...	OMIM:277380
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Peripheral axonal neuropathy, Exaggerated startle response, Decreased number of pe...	ORPHA:320406
8P11.2 Deletion Syndrome	Talipes equinovarus, Hypoplasia of penis, Azoospermia, Retinal dystrophy, Spherocytosis, Splenome...	ORPHA:251066
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Clitoral hypertrophy, Clinodactyly of the 5th finger, Congenital hip disloc...	OMIM:244450
Microphthalmia, Syndromic 1	Microphthalmia, Radial deviation of finger, Renal hypoplasia/aplasia, Abnormal pinna morphology, ...	OMIM:309800
Porphyria, Congenital Erythropoietic	Osteopenia, Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Corneal scarring, Elevated circula...	OMIM:263700
Immunodeficiency 10	Autoimmune hemolytic anemia, Amelogenesis imperfecta, Hepatomegaly, Lymphadenopathy, Recurrent ur...	OMIM:612783
Chromosome 17Q12 Deletion Syndrome	Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Urethral stenosis...	OMIM:614527
Rett Syndrome	Increased serum pyruvate, Growth delay, Hyperammonemia, Failure to thrive, Cholecystitis	ORPHA:778
Mucopolysaccharidosis Type 2, Severe Form	Hypertension, Cardiomyopathy, Dermatan sulfate excretion in urine, Cognitive impairment, Abnormal...	ORPHA:217085
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia, Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Thyroid hypop...	OMIM:218700
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Osteopetrosis, Diaphyseal sclerosis, Hypocalcemia, Cognitive impairment, Metaphyse...	OMIM:618476
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Dpagt1-Cdg	Optic atrophy, Emotional blunting, Hepatomegaly, Anemia, Prolonged QT interval, Elevated circulat...	ORPHA:86309
Oculodentodigital Dysplasia	Umbilical hernia, Clinodactyly, Optic atrophy, Cranial hyperostosis, Preaxial hand polydactyly, T...	ORPHA:2710
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes m...	ORPHA:65288
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Failure to thrive, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentrati...	OMIM:616834
Bartter Syndrome, Type 3	Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti...	OMIM:607364
Thymoma	Aplastic anemia, Prostate neoplasm, Rheumatoid arthritis, Pure red cell aplasia, Weight loss, Imb...	ORPHA:99867
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Abnormality of the gallbladder, Hypospadias, Postaxial hand poly...	ORPHA:2075
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Ocular anterior segment dysgenesis, Clinodactyly of the 5th finger, Broad toe...	OMIM:612582
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ...	ORPHA:210122
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Xfe Progeroid Syndrome	Optic atrophy, Elevated circulating hepatic transaminase concentration, Cachexia, Hypertension, A...	OMIM:610965
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Growth delay, Failure to thr...	OMIM:617388
Gaucher Disease Type 3	Hepatomegaly, Hematuria, Anemia, Pancytopenia, Increased bone mineral density, Abnormal heart val...	ORPHA:77261
Neurofibromatosis Type 1	Osteopenia, Genu valgum, Abnormal hip bone morphology, Slender long bone, Pheochromocytoma, Leuke...	ORPHA:636
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Hepatomegaly, Short long bone, Split hand, Limitation of joint mobility, ...	OMIM:252600
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Hepatomegaly, Renal tubular acidosis, Cardiomyopathy, Renal cyst, Renal...	OMIM:614922
Cohen Syndrome	Optic atrophy, Genu valgum, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Sandal ...	ORPHA:193
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, EEG abnormality	ORPHA:206448
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin...	ORPHA:308552
Omenn Syndrome	Abnormal metaphysis morphology, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpho...	ORPHA:39041
Distal Deletion 13Q	Optic atrophy, Renal hypoplasia/aplasia, Iris coloboma, Abnormal metacarpal morphology, Aplasia/H...	ORPHA:1590
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, ...	ORPHA:85414
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Pelvic kidney, Hypoplasia of the iris, Hydronephrosis, Sclerocornea, Limbal dermo...	OMIM:613001
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Abnormal cortical bone morphology, Arthritis, ...	ORPHA:2796
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level, Hypertension, Failure to thrive, Hypertensive ret...	OMIM:218030
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating ...	ORPHA:470
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Hepatomegaly, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Tremor...	OMIM:610505
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Joubert Syndrome 1	Retinal dysplasia, Retinal dystrophy, Postaxial hand polydactyly, Renal cyst, Optic disc pallor, ...	OMIM:213300
Glutaric Acidemia I	Failure to thrive, Reduced peroxisomal glutaryl-CoA oxidase activity, Elevated circulating glutar...	OMIM:231670
Primary Fanconi Renotubular Syndrome	Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho...	ORPHA:3337
Alkaptonuria	Reduced bone mineral density, Hypertension, Aortic valve stenosis, Joint stiffness, Dark urine, B...	ORPHA:56
Thauvin-Robinet-Faivre Syndrome	Large for gestational age, Inguinal hernia, Coloboma, Ventricular septal defect, Renal cyst, Reti...	OMIM:617107
Hereditary Fructose Intolerance	Hypermagnesemia, Jaundice, Hepatomegaly, Hyperuricemia, Reduced circulating aldolase concentratio...	ORPHA:469
Waldenström Macroglobulinemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphaden...	ORPHA:33226
Fucosidosis	Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Failure to thrive, Hearing impairment, Card...	ORPHA:349
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Elevated circulating hepatic transaminase concentration, Abnormal opti...	ORPHA:397715
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Clinodactyly of the 5th finger, Hypospadias, Clubbing of fingers, Optic disc pallor, ...	OMIM:620083
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syndactyly, Syncope, Aborted...	OMIM:618447
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Anemia, Finger syndactyly, Phimosis, Corneal opacity, Camptodactyly of fing...	ORPHA:2908
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating prealbumin concentration, Chylous ascites, Right ventricular fai...	ORPHA:90363
Meckel Syndrome, Type 4	Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Renal cyst, Bile duct proli...	OMIM:611134
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Impaired renal tubular ...	OMIM:604278
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Rocker bottom foot, Annular pancreas, Clinodactyly of the 5th finger, Duplicated collecting syste...	ORPHA:488642
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Abnormal metacarpal morphology, Coronal craniosynostosis, Conductive hearing impairm...	ORPHA:2095
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary ...	ORPHA:231625
Schinzel-Giedion Syndrome	Stiff elbow, Tibial bowing, Abnormal heart morphology, Umbilical hernia, Short distal phalanx of ...	ORPHA:798
Hypokalemic Periodic Paralysis	Mildly elevated creatine kinase, Episodic hypokalemia, Postprandial hyperglycemia	ORPHA:681
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Chorioretinitis, Hy...	ORPHA:509
Gitelman Syndrome	Polyuria, Prolonged QT interval, Hypokalemia, Hypocalciuria, Renal potassium wasting, Hypotension...	OMIM:263800
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Hypospadias, Concentric hypertrophic cardiomyopathy, Hyperalaninemia, Hypertrophic ...	OMIM:252010
Roifman-Chitayat Syndrome	Osteopenia, Optic atrophy, Short metatarsal, Ectopic kidney, Arthritis, Short metacarpal, Umbilic...	OMIM:613328
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Renal cyst, Congenital hepatic fibrosis, Chorioretinal coloboma, ...	ORPHA:2031
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Rhizomelia, Delayed pubic bone ossification, Irregular epiphyses, Clinodactyly ...	OMIM:618162
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior cha...	OMIM:221900
Juvenile Nephropathic Cystinosis	Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch...	ORPHA:411634
Lissencephaly Due To Lis1 Mutation	Opisthotonus, Neonatal hyperbilirubinemia	ORPHA:95232
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Glycogen Storage Disease Ic	Xanthelasma, Hepatomegaly, Hematuria, Decreased glomerular filtration rate, Chronic pancreatitis,...	OMIM:232240
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Pseudohypoaldosteronism, Type Iib	Hyperkalemia, Hypertension, Hyperchloremia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperkalemia, Hypertension, Hyperchloremia	OMIM:614495
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Tremor, Weight loss, Tachycardia, Goiter	OMIM:613239
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Genu valgum, Azotemia, Retinal dystrophy, Hypoplasia of the ovary, Optic nerve hyp...	OMIM:619321
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Lipoma, Depression, Tremor, Pigmentary retinopathy, Mildly elevated creatine kinase, Increased ci...	ORPHA:502423
Renal Tubular Acidosis Iii	Rickets, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Nephrocalcinos...	OMIM:267200
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Microphthalmia, Protruding ear, Anophthalmia, Cataract, Leukemia	ORPHA:2526
Spondylocarpotarsal Synostosis Syndrome	Limited elbow extension, Mixed hearing impairment, Tarsal synostosis, Clinodactyly of the 5th fin...	OMIM:272460
Polycythemia Vera	Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, H...	ORPHA:729
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Low-set ears, Persistence of hemoglobin F, Joint hypermobility, Overfolded helix, Cupped ear	OMIM:617101
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Short metacarpal, Rhizomelic arm shortening, Iliac crest serration, Short palm, Meta...	ORPHA:93317
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hepatomegaly, Hyperornithinemia, Abnormal circulating citrulline concen...	ORPHA:415
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Pseudohypoaldosteronism, Type Iie	Hyperkalemia, Hypertension, Hyperchloremia	OMIM:614496
Joubert Syndrome 2	Microphthalmia, Nephronophthisis, Hypoplastic male external genitalia, Postaxial hand polydactyly...	OMIM:608091
Xq21 Microdeletion Syndrome	Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorine...	ORPHA:1435
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Renal salt wasting, Polyuria, Peripheral hypomyelination, Chronic axonal neuropathy, Hypokalemia,...	OMIM:612780
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Townes-Brocks Syndrome	Microphthalmia, Ectopic kidney, Hypoplasia of penis, Abnormal vagina morphology, Absent toe, Abno...	ORPHA:857
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Decreased nerve conduction vel...	OMIM:214500
Senior-Loken Syndrome 8	Polydactyly, Nephronophthisis, Retinal dystrophy, Intrahepatic bile duct dilatation, Glomerular s...	OMIM:616307
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Goiter, Weight loss, Tachycardia, Palpitations	OMIM:188580
Congenital Primary Aphakia	Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme...	ORPHA:83461
Q Fever	Myocarditis, Hepatomegaly, Hematuria, Anemia, Lymphadenopathy, Abnormal left ventricular function...	ORPHA:781
Orofaciodigital Syndrome Type 1	Chronic otitis media, Reduced bone mineral density, Cone-shaped epiphysis, Tarsal synostosis, Tre...	ORPHA:2750
Rodrigues Blindness	Protruding ear, Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Triploidy	Intrauterine growth retardation, Abnormality of the gallbladder, Abnormality of the pancreas, Hep...	ORPHA:3376
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Annular pancreas, Clinodactyly of the 5th finger, Hypospadias, Patent foramen oval...	OMIM:616975
Fuchs Endothelial Corneal Dystrophy	Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of...	ORPHA:98974
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Reduced bone miner...	ORPHA:47159
Mucolipidosis Iii Gamma	Genu valgum, Flat capital femoral epiphysis, Claw hand deformity, Shoulder contracture, Finger jo...	OMIM:252605
Spastic Tetraplegia And Axial Hypotonia, Progressive	Low-set ears, Overlapping toe, Posteriorly rotated ears, Exaggerated startle response	OMIM:618598
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Proteus-Like Syndrome	Hyperostosis, Retinal detachment, Shagreen patch, Splenomegaly, Thymus hyperplasia, Subcutaneous ...	ORPHA:2969
Cockayne Syndrome Type 3	Elevated circulating hepatic transaminase concentration, Retinal atrophy, Cardiomyopathy, Cogniti...	ORPHA:90324
Mitochondrial Dna-Associated Leigh Syndrome	Abnormal renal tubule morphology, Optic atrophy, Hepatomegaly, Multiple glomerular cysts, Hyperal...	ORPHA:255210
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Branchio-Oculo-Facial Syndrome	Low-set, posteriorly rotated ears, Microcornea, Abnormal pinna morphology, Renal agenesis, Conduc...	ORPHA:1297
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal neovascularization, Astigmatism, Polycoria, Microphthalmia, Microcornea, Corneal opacity,...	OMIM:175780
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior cha...	ORPHA:91495
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Oromandibular dystonia, Depression, Emotional lability, Tremor, Elevated circulati...	OMIM:614298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kina...	OMIM:614643
Bardet-Biedl Syndrome 12	Polydactyly, Hydrometrocolpos, Hydroureter, Postaxial hand polydactyly, Obesity, Hydronephrosis, ...	OMIM:615989
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Optic atrophy, Bone spicule pigmentation of the retina, Recurrent fractures, Glycosuria,...	OMIM:268315
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Lipoatrophy, Pulmonic stenosis, Action tremor, Congenital malformation of t...	ORPHA:3455
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Arthritis, Leukocytosis, Nep...	OMIM:249100
Wolf-Hirschhorn Syndrome	Chronic otitis media, Hypoplastic pubic ramus, Microtia, Arachnodactyly, Optic atrophy, Abnormali...	ORPHA:280
Medullary cystic kidney disease 2	Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Gout, Stage ...	OMIM:603860
Amish Lethal Microcephaly	Optic atrophy, Irritability, Hepatomegaly, Organic aciduria, Decreased skull ossification, Osteop...	ORPHA:99742
Tuberous Sclerosis 1	Adenoma sebaceum, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Renal cell carcinoma, Rena...	OMIM:191100
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi...	OMIM:610829
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Ppoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Abnormal abdome...	ORPHA:97278
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma, Cryptorchidism	ORPHA:461
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Neoplasm of the pancreas, Abnormal peritoneum morphology, Cachexia, Ascites, Weight...	ORPHA:83469
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Elevated circulating hepatic transaminase concentrati...	ORPHA:64
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary ...	ORPHA:231580
Giant Cell Arteritis	Optic atrophy, Hematuria, Mediastinal lymphadenopathy, Depression, Vasculitis, Arthritis, Cerebra...	ORPHA:397
Olmsted Syndrome 1	Flexion contracture, Opacification of the corneal stroma, Corneal opacity, Autoamputation of digits	OMIM:614594
Asparagine Synthetase Deficiency	Irritability, Hypoasparaginemia, Optic nerve hypoplasia, Tremor, Exaggerated startle response, Fa...	OMIM:615574
Vitreoretinochoroidopathy	Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti...	OMIM:193220
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Absence of labia majora, Hypospadias, Optic nerve hypoplasia, Corneal dystrophy, Hypoplastic labi...	ORPHA:495875
Abnormal Hair, Joint Laxity, And Developmental Delay	Clinodactyly of the 5th toe, Short fifth metatarsal, 2-3 toe syndactyly, Clinodactyly of the 4th ...	OMIM:261990
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Hyperinsulinemia, Abnormal testis morphol...	ORPHA:791
Pierson Syndrome	Posterior lenticonus, Retinal detachment, Hypoproteinemia, Hypertension, Retinal hemorrhage, Remn...	OMIM:609049
Peters Plus Syndrome	Renal hypoplasia/aplasia, Ureteral duplication, Corneal opacity, Anterior chamber synechiae, Opti...	ORPHA:709
Mucolipidosis Type Ii	Cardiomyopathy, Cognitive impairment, Abnormal mitral valve morphology, Splenomegaly, Umbilical h...	ORPHA:576
Pmm2-Cdg	Elevated circulating hepatic transaminase concentration, Reduced thyroxin-binding globulin, Photo...	ORPHA:79318
Polysyndactyly With Cardiac Malformation	Renal cyst, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, Hepatic cysts	OMIM:263630
Joubert Syndrome 35	Recurrent urinary tract infections, Low-set ears, Renal fibrosis, Hydronephrosis, Multicystic kid...	OMIM:618161
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Ketonuria, Elevated urine acetoacetic acid level, Jaundice, Low plasma citrulline, Hyperalaninemi...	OMIM:615751
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Left ventricular systolic dysfunction, Hepatomegaly, Lacticaciduria, Patent foramen ovale, Tricus...	OMIM:619167
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Insensitivity To Pain, Congenital, With Anhidrosis	Recurrent corneal erosions, Postural hypotension with compensatory tachycardia, Corneal ulceratio...	OMIM:256800
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Small earlobe, Corneal opacity, Hea...	ORPHA:364577
Chops Syndrome	Optic atrophy, Cervical C2/C3 vertebral fusion, Tracheomalacia, Patent foramen ovale, Vesicourete...	OMIM:616368
Ectopic Aldosterone-Producing Tumor	Renal cortical adenoma, Ovarian neoplasm, Hypokalemia, Decreased circulating renin level, Hyperte...	ORPHA:231632
Dysosteosclerosis	Abnormal metaphysis morphology, Optic atrophy, Craniofacial hyperostosis, Increased bone mineral ...	ORPHA:1782
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut...	OMIM:238600
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Microphthalmia, Iris cyst, Microcornea, Absent e...	OMIM:612109
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Optic atrophy, Exaggerated startle response, Cognitive impairment, Postaxial ...	OMIM:617527
Floating-Harbor Syndrome	Mesocardia, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Broad thu...	OMIM:136140
Lethal Ataxia With Deafness And Optic Atrophy	Optic atrophy, Hypouricemia, Abnormal erythrocyte enzyme concentration or activity, Decreased mot...	ORPHA:1187
Mucolipidosis Type Iv	EEG abnormality, Corneal opacity	ORPHA:578
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnormally ossified vertebra...	ORPHA:3035
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia, Short 5th metacarpal, Spherocytosis	ORPHA:66518
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Cutis Marmorata Telangiectatica Congenita	Reduced bone mineral density, Finger syndactyly, Retinal detachment, Ascites, Cognitive impairmen...	ORPHA:1556
Choreoacanthocytosis	Abnormal erythrocyte enzyme concentration or activity, Abnormal autonomic nervous system physiolo...	ORPHA:2388
Distal Deletion 15Q	Congenital diaphragmatic hernia, Double outlet right ventricle with doubly committed ventricular ...	ORPHA:1596
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Overweight, Astigmatism, Persistence of hemoglobin F	OMIM:619769
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Bartter Syndrome, Type 2, Antenatal	Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperaldosteronism, ...	OMIM:241200
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Short long bone, Femoral bowing, Ventricular septal defect, Acetabular spur...	OMIM:615503
Tuberous Sclerosis 2	Retinal hamartoma, Adenoma sebaceum, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Renal c...	OMIM:613254
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Mixed hearing impairment, Tapered finger, Low-set ears, Renal cyst, Clinodactyly, Conjunctivitis,...	OMIM:615560
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Abnormal magnesium concentration, Hypokalemia, Proximal tubulopathy, Increased serum prostaglandi...	OMIM:241150
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating hepatic transaminase concentration, Prolonged neonatal jaundice, Splenomegal...	OMIM:619525
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Methylmalonic acidemia, Hyperammonemia...	OMIM:251100
Tsh-Secreting Pituitary Adenoma	Hypertension, Female hypogonadism, Hypogonadism, Supraventricular arrhythmia, Tremor, Abnormal pi...	ORPHA:91347
Combined Oxidative Phosphorylation Deficiency 15	Optic atrophy, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy, Inguinal hernia, H...	OMIM:614947
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Epithelial Recurrent Erosion Dystrophy	Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,...	ORPHA:293381
Marden-Walker Syndrome	Renal hypoplasia/aplasia, Joint stiffness, Arachnodactyly, Abnormality of the kidney, Hypospadias...	ORPHA:2461
Blau Syndrome	Hypertension, Abnormal optic nerve morphology, Retinopathy, Pericarditis, Splenomegaly, Stage 5 c...	ORPHA:90340
Granular Corneal Dystrophy Type Ii	Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube...	ORPHA:98963
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Hepatomegaly, Flared metaphysis, Delayed epiphyseal ossification, M...	OMIM:602557
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Normochromic anemia, Cys...	ORPHA:91500
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Elevated circulating hepatic transaminase concentration, Renal insuffic...	ORPHA:261265
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Short attention span, Exaggerated startle response	ORPHA:438216
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Obesity, Hydronephrosis, Joint hypermobility, Hallux valgus, Multicyst...	OMIM:620511
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypokalemia, Hypercalciuria, Decreased circulating renin level, Hypertension, Adrenal h...	OMIM:613677
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Failure to thrive, Anemia, Craniosynostosis, Corneal opacity	ORPHA:79396
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Gastrointestinal hemorrhage, Genu valgum, Hepatomegaly, Elevated circulating hepat...	ORPHA:394
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Limitation of joint mobility, Co...	OMIM:313400
Meckel Syndrome, Type 6	Talipes equinovarus, Abnormal internal genitalia, Aplasia of the bladder, Postaxial hand polydact...	OMIM:612284
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Microcornea, Hearing impairment, Opacification of the corneal stroma, Cryptorchidism...	OMIM:601499
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Sensorineural hearing impairment, Microtia, Bifid scrotum, Broad thu...	OMIM:107480
Behçet Disease	Gastrointestinal hemorrhage, Optic neuritis, Cerebral ischemia, Retinopathy, Pericarditis, Spleno...	ORPHA:117
Dysosteosclerosis	Diaphyseal undertubulation, Osteopenia, Clavicular sclerosis, Optic atrophy, Abnormal metaphyseal...	OMIM:224300
Gomez-Lopez-Hernandez Syndrome	Decreased response to growth hormone stimulation test, Low-set ears, Posteriorly rotated ears, Cr...	OMIM:601853
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Urinary incontinence, Decreased nerve conduction velocity, Progressive psychomotor...	ORPHA:309271
Gelatinous Drop-Like Corneal Dystrophy	Corneal neovascularization, Central opacification of the cornea, Conjunctival amyloidosis, Subepi...	ORPHA:98957
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Small earlobe, Microtia, Joint hypermobility, Short 5th finger, Short finge...	OMIM:619522
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Osteopathia Striata With Cranial Sclerosis	Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ...	OMIM:300373
Distal Deletion 10Q	Facial diplegia, Low-set ears, Cochlear malformation, Congenital sensorineural hearing impairment...	ORPHA:96148
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Depression, Vasculitis, Arthritis, Ascites, Leukocytosis, Nephroti...	ORPHA:342
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Mild proteinuria, Glom...	OMIM:614377
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Dilatation of the bladder, Dysplastic tricuspid valve, Bicuspid aortic valve, Dilatation of the r...	OMIM:265380
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Microphthalmia, Hypospadias, Ovotestis, Hearing impairment, Chordee, Sclero...	OMIM:309801
Familial Hyperaldosteronism Type I	Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Hypertension, Adrenal hyperpl...	ORPHA:403
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Joubert Syndrome 8	Prolonged neonatal jaundice, Obesity, Hepatomegaly	OMIM:612291
Tarp Syndrome	Rocker bottom foot, Optic atrophy, Horseshoe kidney, Finger syndactyly, Cryptorchidism, Postaxial...	ORPHA:2886
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Feingold Syndrome	Annular pancreas, Clinodactyly of the 5th finger, Deviation of the 2nd finger, Abnormality of the...	ORPHA:1305
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Congenital Disorder Of Glycosylation, Type Iim	Vesicovaginal fistula, Hypertension, Enamel hypoplasia, Ureteropelvic junction obstruction, Neona...	OMIM:300896
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Hypokalemia, Renal potassium wasting, Nephrocalcinosis, Hypomagnesemia, Renal magnesium...	OMIM:618314
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly	OMIM:617441
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, male, Prolonged QT interval, Bifid scrotum, Bicuspid aortic valve, Abnormali...	ORPHA:1772
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Vasculitis, Arthritis, Le...	ORPHA:32960
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Optic atrophy, Jaundice, External genital hypoplasia, Elevated circulating hepatic tr...	OMIM:614231
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Familial Hyperaldosteronism Type Ii	Hypokalemia, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperpl...	ORPHA:404
Granular Corneal Dystrophy Type I	Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ...	ORPHA:98962
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Enlarged lacrimal glands, Prostatitis, Abnormal salivary gland morphol...	ORPHA:449432
Structural Heart Defects And Renal Anomalies Syndrome	Atrial septal defect, Tricuspid atresia, Truncus arteriosus, Renal cyst, Systolic heart murmur, T...	OMIM:617478
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Optic atrophy, Clinodactyly of the 5th finger, Hypospadias, Knee flexion contracture, Cone-shaped...	OMIM:210730
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Elevated serum 11-deoxycortisol, Hypokalemia, ...	OMIM:202010
Lymphangioleiomyomatosis	Optic atrophy, Retinal hamartoma, Gastrointestinal hemorrhage, Renal neoplasm, Hematuria, Lymphad...	ORPHA:538
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Cholelithiasis, Azoospermia, Pancytopenia, Cachexia, Sensorineural hearing impairment, Co...	ORPHA:2072
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple...	ORPHA:90033
Autosomal Dominant Cutis Laxa	Osteopenia, Protruding ear, Unilateral renal agenesis, Corneal opacity, Low-set ears, Development...	ORPHA:90348
Norrie Disease	Optic atrophy, Protruding ear, Microphthalmia, Aplasia/Hypoplasia of the lens, Cachexia, Sensorin...	ORPHA:649
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Abnormal female external genitalia morphology, Ambiguous genitalia, Corneal er...	ORPHA:920
Craniofacial Microsomia 1	Microphthalmia, Genu valgum, Ectopic kidney, Anophthalmia, Sensorineural hearing impairment, Micr...	OMIM:164210
Bartter Syndrome Type 4	Renal salt wasting, Acute kidney injury, Severe failure to thrive, Hyperprostaglandinuria, Hypoka...	ORPHA:89938
Niemann-Pick Disease, Type C1	Hepatomegaly, Low cholesterol esterification rate, Prolonged neonatal jaundice, Splenomegaly, Fat...	OMIM:257220
Galactosialidosis	Visceromegaly, Conjunctival telangiectasia, Hearing impairment, Hepatosplenomegaly, Opacification...	OMIM:256540
Juvenile Polyposis Syndrome	Anemia, Hypokalemia, Clubbing, Failure to thrive, Hematochezia, Hypoalbuminemia	OMIM:174900
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Osteoporosis, Congenital hip dislocation, Short palm, Short thumb, Hypogonadism...	OMIM:268400
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Optic atrophy, Panniculitis, Patellar hypoplasia, Craniosynostosis, M...	ORPHA:3132
Hyperaldosteronism, Familial, Type Ii	Hyperaldosteronism, Hypertension, Hypokalemia	OMIM:605635
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m...	ORPHA:1916
Robinow Syndrome	Mesomelic arm shortening, Pulmonic stenosis, Mesomelia, Bifid distal phalanx of the thumb, Syndac...	ORPHA:97360
Aniridia 1	Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ...	OMIM:106210
Autosomal Recessive Robinow Syndrome	Abnormal hip bone morphology, Sandal gap, Hypoplasia of penis, Broad thumb, Mesomelia, Umbilical ...	ORPHA:1507
Yunis-Varon Syndrome	Absent sternal ossification, Small earlobe, Microtia, Sensorineural hearing impairment, Flat acet...	OMIM:216340
Atopic Keratoconjunctivitis	Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ...	ORPHA:163934
Dyskeratosis Congenita, X-Linked	Optic atrophy, Cirrhosis, Anemia, Hypospadias, Acute myeloid leukemia, Pancytopenia, Phimosis, Os...	OMIM:305000
Generalized Glucocorticoid Resistance Syndrome	Ambiguous genitalia, Hypokalemia, Hypertension, Oligozoospermia, Female pseudohermaphroditism, Pr...	ORPHA:786
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Unilateral renal agenesis, Hypospadias, Inguinal hernia, Tracheo...	ORPHA:96121
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Optic atrophy, Proximal placement of thumb, Unilateral renal agenesis, Hypospadias, Inguinal hern...	ORPHA:487796
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein conce...	ORPHA:50918
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Acute pa...	ORPHA:79086
Biotinidase Deficiency	Optic atrophy, Hepatomegaly, Organic aciduria, Hyperammonemia, Splenomegaly	OMIM:253260
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Renal potassium wasting, Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal magnesium ...	ORPHA:564178
Macular Corneal Dystrophy	Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy...	ORPHA:98969
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Pulmonary insufficiency, Scarring, Inguinal hernia, Bradycardia,...	OMIM:614437
Hepatoerythropoietic Porphyria	Osteopenia, Scarring, Red urine, Scarring alopecia of scalp, Purple urine, Red-brown urine, Osteo...	ORPHA:95159
Hutchinson-Gilford Progeria Syndrome	Reduced bone mineral density, Corneal opacity, Female hypogonadism, Limitation of movement at ank...	ORPHA:740
Grfoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Abnormal abdome...	ORPHA:97261
Tyrosinemia Type 2	Tremor, Corneal opacity	ORPHA:28378
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Urachal cyst, Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, ...	OMIM:608203
Immunodeficiency 31C	Autoimmune hemolytic anemia, Osteopenia, Hepatomegaly, Impaired lymphocyte transformation with ph...	OMIM:614162
Xeroderma Pigmentosum	Optic atrophy, Craniofacial hyperostosis, Pterygium, Sensorineural hearing impairment, Decreased ...	ORPHA:910
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Fem...	ORPHA:2973
Isotretinoin-Like Syndrome	Aplasia/Hypoplasia of the inner ear, Microtia, Bilateral sensorineural hearing impairment, Atresi...	ORPHA:2306
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Anoperineal fistu...	OMIM:619381
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal metaphysis morphology, Absent or minimally ossified vertebral bodies, Hypoplasia of peni...	ORPHA:93271
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets, Stage 5 chronic kidney disease, Corneal crystals, Proteinuria	OMIM:219900
Leber Optic Atrophy	Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Arrhythmia, Dystonia...	OMIM:535000
Dermochondrocorneal Dystrophy	Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract, Irregular tarsal ...	OMIM:221800
Scheie Syndrome	Genu valgum, Corneal opacity	OMIM:607016
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Short finger, Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Clinodactyly of the 5...	OMIM:608670
Mucoepithelial Dysplasia, Hereditary	Corneal neovascularization, Hematuria, Keratoconjunctivitis, Hearing impairment, Cataract, Eosino...	OMIM:158310
Tetrasomy 9P	Biliary atresia, Pericarditis, Abnormal mitral valve morphology, Multiple renal cysts, Umbilical ...	ORPHA:3310
Liddle Syndrome 1	Decreased circulating renin level, Hypertension, Renal insufficiency, Hypokalemia	OMIM:177200
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Knee flexion contracture, Rectovaginal fistula, Bilateral talipes equinovarus, Int...	OMIM:619708
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Acute Liver Failure	Acute kidney injury, Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transami...	ORPHA:90062
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the kidney, Astigmatism, Hydroureter, Corneal erosion, Aganglionic megacolon, Olig...	ORPHA:2273
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Exocrine pancreatic insufficiency, ...	OMIM:260370
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Macrotia, EEG abnormality, Exaggerated startle response	OMIM:617281
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia...	OMIM:613090
Cornelia De Lange Syndrome	Proximal placement of thumb, Hypoplasia of penis, Sensorineural hearing impairment, Oligodactyly,...	ORPHA:199
Bartter Syndrome, Type 5, Antenatal, Transient	Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu...	OMIM:300971
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal c...	ORPHA:231736
Hyper-Igd Syndrome	Lymphadenopathy, Arthritis, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Spleno...	OMIM:260920
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Cryptorchid...	OMIM:603671
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Corneal opacity, Osteolysis, Iris coloboma	ORPHA:2396
Digeorge Syndrome	Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Umbilical hernia, Hepatic steatosis, Ingu...	OMIM:188400
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Hypocalcemia, Sialadenitis, Abnormal pituitary gland mo...	ORPHA:64744
African Trypanosomiasis	Urinary incontinence, Optic neuritis, Pericarditis, Splenomegaly, Second degree atrioventricular ...	ORPHA:3385
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Feingold Syndrome 1	Annular pancreas, Tricuspid atresia, Accessory spleen, 2-3 toe syndactyly, Tricuspid stenosis, 4-...	OMIM:164280
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame...	OMIM:254450
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Tropical Pancreatitis	Jaundice, Maternal diabetes, Abnormal pancreatic duct morphology, Pancreatic calcification, Weigh...	ORPHA:103918
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase concentration, Flexion con...	OMIM:613154
Glucagonoma	Steatorrhea, Intrahepatic cholestasis, Hepatomegaly, Neoplasm of the pancreas, Abnormal abdomen m...	ORPHA:97280
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Unilateral renal dysplasia, Pseudopapilledema, Aplasia of the vagina, Hypoparathyroidi...	OMIM:146255
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Macrodactyly, Cranial hyperostosis, Sandal gap, Lipoma, Renal hypoplasia, Splenomegaly, Nephrobla...	OMIM:612918
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Low-set ears, Renal cyst, Posteriorly rota...	OMIM:617260
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Steatorrhea, Biliary cirrhosis, Failure to thrive, Hepatos...	OMIM:219700
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Hereditary Acrokeratotic Poikiloderma	Abnormal renal tubule morphology, Abnormal metacarpal morphology, Abnormal preputium morphology, ...	ORPHA:2907
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia...	OMIM:602522
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Extrahepatic...	OMIM:601346
Hypomagnesemia 2, Renal	Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting, Chondro...	OMIM:154020
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Failure to thrive, H...	OMIM:214700
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Urinary incontinence, Depression, Tremor, Blepharospasm, Pigmentary retinopathy, D...	OMIM:234200
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Ventricular septal defect	OMIM:126320
Radio-Renal Syndrome	Hypoplasia of the radius, Renal hypoplasia/aplasia, Micromelia, Renal agenesis, Short palm, Brach...	ORPHA:3015
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoamylasemia, Pancreatic aplasia, Aplasia/Hypoplasia of the phalanges of the thumb, Absent gall...	ORPHA:556955
Neurocardiofaciodigital Syndrome	Polydactyly, Vesicoureteral reflux, Hearing impairment, Failure to thrive, Sclerocornea, Syndacty...	OMIM:619869
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Biliary atresia, Pancreatic aplasia, Pulmo...	ORPHA:2255
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Urinary incontinence, Sensorineural hearing impairment, Bifid scrotum, Arachnodac...	ORPHA:261537
Pancreatitis, Hereditary	Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic c...	OMIM:167800
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Ectopic kidney, Calcaneal epiphyseal stippling, Elbow flexion con...	OMIM:117650
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Urinary incontinence, Sensorineural hearing impairment, Bifid scrotum, Iris atrop...	ORPHA:261552
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Retinal dysplasia, Elevated circulating creatine kinase concentration, Dec...	OMIM:615287
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cholelithiasis, Obesity, Hepatosplenomegaly, Cholecystitis	OMIM:301066
Liddle Syndrome 2	Decreased circulating renin level, Hypertension, Hypokalemia	OMIM:618114
Liddle Syndrome 3	Decreased circulating renin level, Hypertension, Hypokalemia	OMIM:618126
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Hypertension, R...	OMIM:613159
Baller-Gerold Syndrome	Limited elbow movement, Anomalous splenoportal venous system, Carpal bone aplasia, Optic nerve hy...	OMIM:218600
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Thyroid C cell hyperplasia, Microphthalmia, Sclerocornea	OMIM:300952
Penile Agenesis	Atrial septal defect, Maternal diabetes, Hydroureter, Abnormality of the bladder, Bilateral renal...	ORPHA:49
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Short humerus, Short femur, EEG with generalized slow activity, Tap...	OMIM:618367
Mowat-Wilson Syndrome	Microphthalmia, Urinary incontinence, Sensorineural hearing impairment, Bifid scrotum, Syndactyly...	ORPHA:2152
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo...	OMIM:165550
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Limb Body Wall Complex	Abnormality of the kidney, Aplasia/hypoplasia involving bones of the upper limbs, Aplasia of the ...	ORPHA:2369
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Splenomegaly, Cardiomegaly, Opacification of the corneal stroma	OMIM:231005
Autoimmune Polyendocrinopathy Type 1	Adrenal hyperplasia, Opacification of the corneal stroma, Hypoparathyroidism, Cataract	ORPHA:3453
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Joint hypermobility, Short foot, Sma...	ORPHA:2714
Helix Syndrome	Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Nephrolithiasis, Renal insufficiency, Hype...	OMIM:617671
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology	ORPHA:440727
Genitopatellar Syndrome	Clitoral hypertrophy, Enlarged labia minora, Multicystic kidney dysplasia, Knee flexion contractu...	OMIM:606170
Full Nf2-Related Schwannomatosis	Retinal hamartoma, Peripheral schwannoma, Memory impairment, Facial palsy, Abnormal optic nerve m...	ORPHA:637
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
C Syndrome	Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Disl...	ORPHA:1308
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Failure to thrive, Corneal opacity	OMIM:620519
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Heterochromia iridis, Sclerocornea, Lens coloboma, Catara...	ORPHA:42775
Metachromatic Leukodystrophy, Late Infantile Form	Cholecystitis	ORPHA:309256
Familial Adenomatous Polyposis 4	Uterine leiomyoma, Ovarian cyst, Renal cyst	OMIM:617100
Metachromatic Leukodystrophy, Juvenile Form	Cholecystitis	ORPHA:309263
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Cholangitis, Cholecystitis, Viral hepatitis, Liver abscess	ORPHA:183675
Pancreatic Agenesis 2	Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Diabet...	OMIM:615935
Duodenal Atresia	Annular pancreas, Abnormality of the pancreas	ORPHA:1203
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Uterine leiomyoma, Renal cyst	ORPHA:480536
Kawasaki Disease	Jaundice, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hepatitis, Chol...	ORPHA:2331
Oculoectodermal Syndrome	Astigmatism, Microcornea, Bladder exstrophy, Limbal dermoid, Opacification of the corneal stroma,...	OMIM:600268
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Megacystis, Cryptorchidism, Hydroureter, Multicystic kidney dysplasia	ORPHA:2241
Neuroocular Syndrome	Clinodactyly of the 5th finger, Hyperextensibility of the finger joints, Patent foramen ovale, Pr...	OMIM:619539
Cancer-Associated Retinopathy	Optic atrophy, Granular macular appearance, Neoplasm of the pancreas, Retinal pigment epithelial ...	ORPHA:71505
Vascular Ehlers-Danlos Syndrome	Hypertension, Cognitive impairment, Cigarette-paper scars, Mitral valve prolapse, Umbilical herni...	ORPHA:286
Pancreas, Annular	Annular pancreas	OMIM:167750
Annular Pancreas	Annular pancreas	ORPHA:675
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Aplasia of the uterus, Aortic valve stenosis, Umbilical hernia, ...	OMIM:601803
Listeriosis	Jaundice, Liver abscess, Splenic abscess, Peritonitis, Hepatic granulomatosis, Cholecystitis	ORPHA:533
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Corneal neovascularization, Aganglionic megacolon, Unilateral renal a...	OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Microphthalmia, Buphthalmos, Megalocornea, Hypoplasia of the retina, Cataract, Opa...	OMIM:253280
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Tracheomalacia, Atresia of the external auditory canal, Conductiv...	ORPHA:1393
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence, Sinus bradycardia	OMIM:619482
Hereditary Hemorrhagic Telangiectasia	Cirrhosis, Hepatic arteriovenous malformation, Cholelithiasis, Portal hypertension, Cholecystitis...	ORPHA:774
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hearing impairment, Opacification of the corneal stroma, Tinnitus, Cardiomegaly	ORPHA:79280
Attenuated Familial Adenomatous Polyposis	Uterine leiomyoma, Multiple renal cysts	ORPHA:220460
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Failure to thrive, Hypokalemia	OMIM:618426
Holoprosencephaly 2	Cyclopia, Iris coloboma, Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Ch...	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 regeneration	Atp8b1^em1(IMPC)Tcp	HOM		Late adult
Liver - MPATH pathological process term hyperplasia	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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Eye Morphology

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Gross Pathology and Tissue Collection

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Human diseases caused by Atp8b1 mutations

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