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Gene: Atp8b1 MGI:1859665

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Gene Summary

Name:
ATPase, class I, type 8B, member 1
Synonyms:
FIC1,  Ic

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral density Atp8b1em1(IMPC)Tcp HOM Early adult 7.65×10-18
corneal opacity Atp8b1em1(IMPC)Tcp HOM   Early adult 3.62×10-06
long tibia Atp8b1em1(IMPC)Tcp HOM Early adult 2.24×10-05
abnormal auditory brainstem response Atp8b1em1(IMPC)Tcp HOM   Early adult 3.55×10-09
decreased heart weight Atp8b1em1(IMPC)Tcp HOM Late adult 1.59×10-05
decreased exploration in new environment Atp8b1em1(IMPC)Tcp HOM Late adult 4.73×10-24
decreased bone mineral content Atp8b1em1(IMPC)Tcp HOM Early adult 2.73×10-21
decreased exploration in new environment Atp8b1em1(IMPC)Tcp HOM Middle aged adult 9.99×10-12
increased leukocyte cell number Atp8b1em1(IMPC)Tcp HOM Early adult 5.43×10-16
decreased mean corpuscular hemoglobin Atp8b1em1(IMPC)Tcp HOM Late adult 2.53×10-07
decreased hematocrit Atp8b1em1(IMPC)Tcp HOM Early adult 3.23×10-08
increased grip strength Atp8b1em1(IMPC)Tcp HOM Late adult 5.50×10-09
decreased prepulse inhibition Atp8b1em1(IMPC)Tcp HOM Early adult 0.00
increased neutrophil cell number Atp8b1em1(IMPC)Tcp HOM Early adult 7.53×10-10
abnormal bone structure Atp8b1em1(IMPC)Tcp HOM Late adult 5.82×10-09
decreased bone mineral density Atp8b1em1(IMPC)Tcp HOM Late adult 5.66×10-11
anophthalmia Atp8b1em1(IMPC)Tcp HOM Early adult 0.00
improved glucose tolerance Atp8b1em1(IMPC)Tcp HOM Late adult 2.14×10-11
increased lean body mass Atp8b1em1(IMPC)Tcp HOM   Early adult 3.00×10-05
decreased total body fat amount Atp8b1em1(IMPC)Tcp HOM Late adult 1.17×10-18
increased lymphocyte cell number Atp8b1em1(IMPC)Tcp HOM Early adult 2.47×10-11
small seminal vesicle Atp8b1em1(IMPC)Tcp HOM Early adult 0.00
decreased hematocrit Atp8b1em1(IMPC)Tcp HOM Late adult 5.68×10-07
abnormal startle reflex Atp8b1em1(IMPC)Tcp HOM Late adult 5.47×10-10
enlarged urinary bladder Atp8b1em1(IMPC)Tcp HOM Early adult 0.00
decreased hemoglobin content Atp8b1em1(IMPC)Tcp HOM Early adult 1.88×10-08
abnormal startle reflex Atp8b1em1(IMPC)Tcp HOM Middle aged adult 4.90×10-08
decreased mean corpuscular hemoglobin Atp8b1em1(IMPC)Tcp HOM Early adult 5.04×10-06
decreased hemoglobin content Atp8b1em1(IMPC)Tcp HOM Late adult 8.05×10-10
long tibia Atp8b1em1(IMPC)Tcp HOM Late adult 3.00×10-05
decreased bone mineral content Atp8b1em1(IMPC)Tcp HOM Late adult 2.38×10-16
decreased fasting circulating glucose level Atp8b1em1(IMPC)Tcp HOM Late adult 4.31×10-08
abnormal bone structure Atp8b1em1(IMPC)Tcp HOM Early adult 5.30×10-07
decreased mean corpuscular volume Atp8b1em1(IMPC)Tcp HOM Early adult 6.07×10-09
prolonged RR interval Atp8b1em1(IMPC)Tcp HOM Late adult 6.29×10-05
polycystic kidney Atp8b1em1(IMPC)Tcp HOM Early adult 0.00
increased lean body mass Atp8b1em1(IMPC)Tcp HOM Late adult 8.49×10-22
decreased startle reflex Atp8b1em1(IMPC)Tcp HOM Early adult 2.03×10-05
decreased heart rate Atp8b1em1(IMPC)Tcp HOM Late adult 9.44×10-06
decreased erythrocyte cell number Atp8b1em1(IMPC)Tcp HOM   Early adult 6.15×10-05
decreased grip strength Atp8b1em1(IMPC)Tcp HOM   Early adult 6.54×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

105 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

12 Images

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X-ray

XRay Images Whole Body 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 Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

22 Images

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Histopathology

Images

5 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 Skull Lateral Orientation

10 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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... OMIM:243300
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Short stature, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahep... OMIM:211600
Intrahepatic Cholestasis Of Pregnancy
Ascites, Small for gestational age, Hyperbilirubinemia, Abnormality of the pancreas, Increased se... ORPHA:69665
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Elevated hepatic transaminase, Increased serum bi... OMIM:147480

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Growth delay, Failure to thrive, Hyperbilirubinemia, Cir... OMIM:605814
Hypervalinemia And Hyperleucine-Isoleucinemia
Hyperleucinemia, Hypervalinemia, Elevated circulating alanine aminotransferase concentration, Hyp... OMIM:618850
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hyperlipidemia, Increased hepatic glycogen content, H... OMIM:232700
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Edinburgh Malformation Syndrome
Failure to thrive, Neonatal hyperbilirubinemia, Jaundice OMIM:129850
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Dubin-Johnson Syndrome
Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice OMIM:237500
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... OMIM:214900
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... OMIM:616278
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Elevated circulat... OMIM:235555
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal enzyme/coenzyme activity, Intermitten... ORPHA:3111
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hyperbiliru... OMIM:214950
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia, Jaundice OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Increased body w... ORPHA:890
Glycogen Storage Disease Ixa1
Hepatomegaly, Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... OMIM:306000
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Abnormality of the liver, Prolonged... ORPHA:79234
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... OMIM:619662
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Hypertriglyceride... OMIM:614480
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Failure to thrive, Hyper... OMIM:607765
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated hepatic transamin... OMIM:618528
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... ORPHA:79302
Dysplasia Of Head Of Femur, Meyer Type
Flattened femoral head, Leukocytosis, Congenital hip dislocation, Multicentric femoral head ossif... ORPHA:168621
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Decreased liver function, Hepatic steatos... OMIM:614300
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Short stature, Failure to thrive, Splenomegaly, Cirrhosis... OMIM:601847
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosph... OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Failure to thrive, Elevated gamma-glutamyltransferase level, Conjugated hype... OMIM:619484
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... OMIM:243300
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice OMIM:143500
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hyperbilirubinemia, Short stature, Splenomegaly OMIM:613673
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Renal dysplasia, Hypoplastic acetabulae... ORPHA:93323
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly OMIM:619175
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Elevated circulating alkaline phosphatase concentration, Ascites, Incre... OMIM:174050
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Abnormal circulating f... ORPHA:567983
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Intrauterine growth retardation, Ascites, Failure to thrive, Ci... OMIM:617156
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Elevated circulating al... ORPHA:247598
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Growth delay, Ascites, Failure to thrive, Depletion of mit... OMIM:251880
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Short stature, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahep... OMIM:211600
Galactose Mutarotase Deficiency
Hepatomegaly, Hypergalactosemia, Failure to thrive, Decreased liver function, Cholestasis, Abnorm... ORPHA:570422
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly, Cirrhosis, Increased circulating... OMIM:616860
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Cholestasis, Hyperbilirubinemia OMIM:609734
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Growth delay, Failure to thrive, Elevated circulating creatine kinase concentration... OMIM:615895
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Dubin-Johnson Syndrome
Hepatomegaly, Abnormality of the liver, Conjugated hyperbilirubinemia, Biliary tract abnormality,... ORPHA:234
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Failure to thrive, Hyperammonemia, Cirrhosis, Elevated circulating aspartate aminotransf... OMIM:617049
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... ORPHA:1344
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Intrauterine growth retardation, Cholelithiasis, Splenomegaly, C... OMIM:266200
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Odontochondrodysplasia 1
Irregular epiphyses, Small epiphyses, Genu varum, Metaphyseal cupping, Micromelia, Flared iliac w... OMIM:184260
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Weight loss, Cholelithi... ORPHA:53035
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Intrauterine growth retardation, Failure to thrive OMIM:613861
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice OMIM:235700
Hyperlipoproteinemia, Type Id
Failure to thrive, Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity, Hepatomegaly ORPHA:1980
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Failure to thrive, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice ORPHA:172
Harderoporphyria
Hepatomegaly, Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra... OMIM:618892
Winchester Syndrome
Corneal opacity, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the... OMIM:277950
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Tapered finger, Failure to thrive, Long fingers, Glucose intolerance, Impaired glucose tolerance,... OMIM:614407
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Increased hepatic glycogen content OMIM:261750
Gracile Syndrome
Increased serum iron, Intrauterine growth retardation, Increased circulating ferritin concentrati... OMIM:603358
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:185000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... OMIM:613812
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Hyperbilirubinemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Intrahepatic Cholestasis Of Pregnancy
Ascites, Small for gestational age, Hyperbilirubinemia, Abnormality of the pancreas, Increased se... ORPHA:69665
Lipoyltransferase 1 Deficiency
Decreased liver function, Increased total bilirubin, Elevated hepatic transaminase OMIM:616299
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Hepatic steatosi... OMIM:610717
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... ORPHA:369
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Failure to thrive, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrop... OMIM:619048
Pendred Syndrome
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation OMIM:274600
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Timothy Syndrome
Ventricular septal defect, Hypoglycemia, Prolonged QT interval, Cardiomegaly, Bradycardia, Syndac... OMIM:601005
Spherocytosis, Type 1
Jaundice, Hyperbilirubinemia, Cholelithiasis, Splenomegaly OMIM:182900
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Hypermanganesemia, Cirrhosis, Decreased liver func... OMIM:613280
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Failure to thrive, Bradycardia,... OMIM:616201
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatocellular carcinoma, Hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concen... ORPHA:158057
Roberts Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Hypoplasia of the radiu... ORPHA:3103
Glycogen Storage Disease Ixc
Hepatomegaly, Growth delay, Increased hepatic glycogen content, Bile duct proliferation, Splenome... OMIM:613027
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Deafness, X-Linked 2
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... OMIM:304400
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Abnormality of the metaphysis, Reduced bone mineral density, B... ORPHA:2370
Mulibrey Nanism
Hepatomegaly, Cachexia, Intrauterine growth retardation, Short stature ORPHA:2576
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Reduced red cell pyruvate kinase level, Unconjugated hyperbilirubinemia, El... ORPHA:766
Femoral-Facial Syndrome
Short femur, Long penis, Talipes equinovarus, Abnormal localization of kidney, Renal hypoplasia/a... ORPHA:1988
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Right ventricular hypertrophy, Failure to thrive, Cholestatic liver disease... OMIM:613404
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Metatarsus adductus, Aminoaciduria, Talipes equinovarus, Failure to thrive, Hypopla... OMIM:214110
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Galactosemia Iii
Hepatomegaly, Hypergalactosemia, Failure to thrive, Splenomegaly, Jaundice OMIM:230350
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Ele... ORPHA:79301
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Intrauterine growth retardation, Acholic stools, Annular pancreas, Hyperbi... OMIM:615710
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia OMIM:619553
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Wolcott-Rallison Syndrome
Hepatomegaly, Hyponatremia, Growth delay, Ascites, Short stature, Hyperbilirubinemia, Hyperammone... ORPHA:1667
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Elevated hepatic transaminase, Increased serum bi... OMIM:147480
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia, Large for gestational age, Corneal opacity, Microcornea ORPHA:2432
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia, Epiphyseal stippling OMIM:614859
Short Rib-Polydactyly Syndrome
Hypospadias, Abnormal ilium morphology, Reduced bone mineral density, Urogenital sinus anomaly, S... ORPHA:1505
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Glucose intolerance, Osteoporosis, Gout, Impaired glucose tolerance, Myocardial inf... OMIM:610947
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Weight ... ORPHA:400
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrauterine growth retardation, Failure to thrive, Decreased liver function, Hepatic steatosis, ... OMIM:617093
Peroxisome Biogenesis Disorder 12A (Zellweger)
Growth delay, Elevated circulating long chain fatty acid concentration, Short stature, Cholelithi... OMIM:614886
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Branchiootic Syndrome 1
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Sensorineura... OMIM:602588
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,... OMIM:231100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Reynolds Syndrome
Hepatomegaly, Calcinosis, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Elevated circulating alk... OMIM:613471
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega... OMIM:613313
Congenital Rubella Syndrome
Hepatomegaly, Microphthalmia, Anemia, Aplasia/Hypoplasia of the iris, Abnormality of the metaphys... ORPHA:290
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... OMIM:619274
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:612653
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Short stature, Increased LDL cholesterol c... OMIM:607616
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Hyperalaninemia, Decreased liver function, Hyperammonemia, Elevated ci... OMIM:615160
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Hyperb... ORPHA:562639
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Elevated cir... OMIM:600803
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... ORPHA:480520
Galactose Epimerase Deficiency
Hepatomegaly, Growth delay, Weight loss, Splenomegaly, Jaundice ORPHA:79238
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Postnatal growth r... ORPHA:288
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Failure to thrive, Cardiomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:269920
Sialidosis Type 2
Hepatomegaly, Osteoporosis, Hearing impairment, Splenomegaly, Tremor, Corneal opacity, Flexion co... ORPHA:87876
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Osteopenia, ... OMIM:618849
Trisomy 13
Optic atrophy, Hydronephrosis, Abnormality of the ureter, Microphthalmia, Abnormal morphology of ... ORPHA:3378
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:616689
Glycogen Storage Disease Vii
Increased total bilirubin, Cholelithiasis, Hyperuricemia, Jaundice OMIM:232800
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Combined Oxidative Phosphorylation Deficiency 30
Failure to thrive, Hyperalaninemia, Decreased liver function, Left ventricular hypertrophy, Eleva... OMIM:616974
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cog7-Cdg
Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Fail... ORPHA:79333
Bardet-Biedl Syndrome 10
Polydactyly, Renal cyst, Hypogonadism, Obesity, Renal insufficiency, Abnormality of the kidney OMIM:615987
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypoglycemia, Ventricular tachycardia, Ventricular hypertrophy... OMIM:212138
Immunodeficiency 48
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:269840
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
3-Methylglutaconic Aciduria, Type Viii
Tremor, Neutropenia, Bradycardia OMIM:617248
Bardet-Biedl Syndrome 6
Hypospadias, Polydactyly, External genital hypoplasia, Renal cyst, Syndactyly, Obesity OMIM:605231
Mirizzi Syndrome
Gallbladder perforation, Cholelithiasis, Pancreatitis, Hyperbilirubinemia, Cholesterol gallstones... ORPHA:521219
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur... ORPHA:75234
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Prolonged QTc interval, Bradycardia, ... OMIM:618782
Glycogen Storage Disease Iii
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Short stature, Elevated circulating creatine kina... OMIM:232400
Lysosomal Acid Lipase Deficiency
Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steatorrhea, Reduced lysosomal acid lipase activ... OMIM:278000
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Increased erythrocyte protoporphyrin concentration, Cholelithiasis OMIM:300752
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Right ventricular hypertrophy, Failure to thrive, Cholestatic liver disease... OMIM:208085
Distal Tetrasomy 15Q
Horseshoe kidney, Hydronephrosis, Nephroblastoma, Abnormal external genitalia, Craniosynostosis, ... ORPHA:314588
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Atrial fibrillation, Insulin resistance, Failure to thrive, Osteoporosis, ... OMIM:613327
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, External genital hypoplasia, Renal cyst, Hearing impairment, Hyp... OMIM:615993
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Gillessen-Kaesbach-Nishimura Syndrome
Metaphyseal widening, Large fleshy ears, Posteriorly rotated ears, Decreased skull ossification, ... OMIM:263210
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Idiopathic Congenital Hypothyroidism
Abnormality of epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Umbilical ... ORPHA:95717
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:616649
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Mucolipidosis Type Iii
Hypoplastic inferior ilia, Reduced bone mineral density, Craniofacial hyperostosis, Corneal opaci... ORPHA:577
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Progressive sensorineural hea... OMIM:303110
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Axona... OMIM:601596
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Optic atrophy, Hepatomegaly, Failure to thrive, An... ORPHA:90321
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Microphthalmia, Iris coloboma OMIM:616428
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease OMIM:617610
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Increased L... OMIM:267700
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture OMIM:618815
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenom... ORPHA:848
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin... ORPHA:90646
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Glomerulopathy, Neutropenia, Increased mean corpuscular volume, Failure to thr... ORPHA:2169
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Buphthalmos, Pancreatic hypoplasia, Pancreatic cysts, Splenic cyst, Renal cyst, Spl... OMIM:610199
Ophthalmomandibulomelic Dysplasia
Abnormality of bone mineral density, Aplasia/Hypoplasia of the radius, Symphalangism affecting th... ORPHA:2741
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Alpha-Mannosidosis
Hepatomegaly, Bowing of the long bones, Hypoplastic inferior ilia, Macrotia, Arthritis, Hearing i... ORPHA:61
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Ele... OMIM:603471
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Growth delay, Short stature, Failure to thrive, Elevated circulating creatine kinas... OMIM:614727
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Cone-shaped epiphysis, Nephronophthisis, Renal dysplasia, Craniosynostosis, Anemia,... OMIM:266920
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, EEG abnormality, Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:617519
Usher Syndrome Type 1
Subcortical cerebral atrophy, Sensorineural hearing impairment, Vestibular hypofunction, Cerebral... ORPHA:231169
Fanconi Anemia, Complementation Group G
Neutropenia, Microphthalmia, Leukemia, Anemia, Abnormal thumb morphology, Thrombocytopenia OMIM:614082
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Short stature, Hyperbilirubinemia, Elevated hepatic transaminase, Increased... ORPHA:98870
Microphthalmia With Brain And Digit Anomalies
Microcornea, Microphthalmia, Sclerocornea, Anophthalmia, Proximal placement of thumb, Iris colobo... ORPHA:139471
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metap... ORPHA:2788
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Jaundice OMIM:268150
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemi... OMIM:601775
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Neutropenia, Anemia, Gout, Renal cyst, Nephropathy, Chronic k... OMIM:617056
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Talipes equinovarus, Hearing impairment, Micropenis, Large earlobe, Rocker bottom fo... OMIM:301056
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Intrauterine growth retardation, Short stature, Splenomegaly OMIM:618541
Rhyns Syndrome
Abnormal acetabulum morphology, Small epiphyses, Nephronophthisis, Abnormality of long bone morph... ORPHA:140976
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Failure to thrive, Hip dislocation, Hepatosplenomegaly, Polycystic kidney dysplasia OMIM:608776
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Microphthalmia, Annular pancreas, Aplasia/Hypoplasia of the p... ORPHA:2470
Diamond-Blackfan Anemia 7
Macrocytic anemia, Horseshoe kidney, Neutropenia, Increased mean corpuscular volume, Triphalangea... OMIM:612562
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Cholestasis, Intrahepatic, Of Pregnancy 3
Intrahepatic cholestasis, Increased serum bile acid concentration during pregnancy, Abnormal live... OMIM:614972
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Short stature, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenom... OMIM:612526
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Anemia, Abnormality of the metaphysis, Long fibula, Reduced bone mineral d... ORPHA:935
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Opacification of the corneal stroma, Focal segmental glomeruloscleros... OMIM:242900
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Bowing o... OMIM:614091
Autoimmune Hepatitis
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Increased total bilirubin, Acute hepatiti... ORPHA:2137
Necrotizing Enterocolitis
Shock, Leukocytosis, Neutropenia, Small for gestational age, Hyperglycemia, Abnormal heart morpho... ORPHA:391673
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal spurs, Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyl... OMIM:613091
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia, Iris coloboma OMIM:611638
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level OMIM:609016
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Abnormality of epiphysis morphology, Delayed epiphyseal ossification, Large for gestational age, ... ORPHA:226313
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Growth delay, Ascites, Short stature, Hyperbilirubinemia, Splenomegaly, Hepatic fai... OMIM:259720
Campomelia, Cumming Type
Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts, Bowing of the long bones OMIM:211890
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary he... OMIM:615285
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Eleva... OMIM:301045
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Microphthalmia, Talipes equinovarus, Camptodact... OMIM:206920
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Hepatomegaly, Proximal femoral metaphyseal irregular... OMIM:260400
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Meckel Syndrome, Type 8
Microphthalmia, Polydactyly, Talipes equinovarus, Anophthalmia, Postaxial hand polydactyly, Hyper... OMIM:613885
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Methemoglobinemia, Anemia OMIM:613977
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Aganglionic megacolon, Hand oligodactyly, Asplenia, Pho... OMIM:156810
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestational... ORPHA:324575
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Ascites, A... ORPHA:186
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Spleno... OMIM:603553
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia, Macrotia, Vertebral fusion OMIM:221950
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Hyperlipidemia, Splenomegaly, Cirrhosis,... ORPHA:1414
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Dementia, Cardiomyopathy, Bradycardia, Diabetes mellitus, Arrhythmia OMIM:609286
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Severe intrauterine growth retardation, Intrauterine growth retardation, Severe postnatal growth ... ORPHA:73272
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... OMIM:263200
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Microphthalmia, Syndromic 12
Anophthalmia, Bicornuate uterus, Cryptorchidism, Microphthalmia OMIM:615524
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... ORPHA:3344
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Caudate atrophy, Global brain atro... ORPHA:52368
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Proteinuria, Opacification of the corneal stroma, Hemolytic anemia, Renal in... OMIM:245900
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Microphthalmia, Posterior embryotoxon, Hematuria, Iris coloboma, Sensorineural hea... ORPHA:1473
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, M... OMIM:600649
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Polydactyly OMIM:615397
Bardet-Biedl Syndrome 4
Polydactyly, External genital hypoplasia, Renal cyst, Hypogonadism, Syndactyly, Obesity, Cryptorc... OMIM:615982
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Weight loss, Splenomegaly, Cirrhosis, Acute hepatic failure, ... ORPHA:131
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Decreased calvarial ossification, 2-3 toe syndactyly, Radial bowing, Postaxial polydactyly, Ulnar... OMIM:617866
Acquired Partial Lipodystrophy
Hearing impairment, Microscopic hematuria, Lymphocytosis, Glomerulopathy, Proteinuria ORPHA:79087
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Acute leukemia, Hypogonadism, Corneal opacity, Unilateral renal agenesis, Cr... ORPHA:281090
Galactosialidosis
Corneal opacity, Hearing impairment ORPHA:351
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Progressive neurol... ORPHA:276608
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Infantile Liver Failure Syndrome 3
Hepatomegaly, Short stature, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failu... OMIM:618641
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Weight loss, Pancreatitis, Cholelithiasis, Cholestatic ... ORPHA:65682
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Inguinal hernia, Flexion contracture OMIM:614498
Hereditary Spherocytosis
Hepatomegaly, Growth delay, Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Jaundice ORPHA:822
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Failure to thrive, Elevated gamma-glutamyltransferase level, Hyperalaninemia, Hepat... OMIM:614582
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Hydronephrosis, Tapered finger, Long fingers, Overfolded heli... OMIM:608836
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy, Hearing impairment ORPHA:95433
Meckel Syndrome
Accessory spleen, Microphthalmia, Asplenia, Urethral atresia, Anophthalmia, Bowing of the long bo... ORPHA:564
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ocular albinism, Abnormality of the urinary system, Anemia, Arachnodactyly, Sensorineural hearing... ORPHA:2719
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Branchiootorenal Syndrome 1
Conductive hearing impairment, Renal agenesis, Dilatated internal auditory canal, Hypoplasia of t... OMIM:113650
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Fulminant hepatitis, Hepatic failure, Elevated hepatic transaminase, Jaundice OMIM:618549
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Limited pronation/supination of forearm, Neutropenia, Anemia, Short middle phalanx of the 4th fin... OMIM:616738
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Microphthalmia, Sclerocornea, Anophthalmia, Rhizomelia, Cataract, Microcornea, Preco... OMIM:615877
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal di... ORPHA:276580
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Growth delay, Increased circulating ferritin concentration, Splenomegaly OMIM:615234
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Rh Deficiency Syndrome
Reduced haptoglobin level, Intrauterine growth retardation, Hyperbilirubinemia, Hepatosplenomegal... ORPHA:71275
Oslam Syndrome
Clinodactyly of the 5th finger, Abnormality of neutrophils, Increased mean corpuscular volume, Ra... ORPHA:2760
Beta-Thalassemia Intermedia
Leukocytosis, Hypoparathyroidism, Hepatomegaly, Erythroid hyperplasia, Proximal tubulopathy, Incr... ORPHA:231222
Trimethylaminuria
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly OMIM:602079
Hemochromatosis, Type 4
Glucose intolerance, Impaired glucose tolerance, Anemia, Cardiomyopathy, Diabetes mellitus, Osteo... OMIM:606069
Stiff-Person Syndrome
Hypertension, Opisthotonus, Agoraphobia, Anemia, Tachycardia, Exaggerated startle response, Diabe... OMIM:184850
Meckel Syndrome 13
Polycystic kidney dysplasia, Flexion contracture OMIM:617562
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Failure to thrive in infancy, Hypochromic microcytic anemia, Bowing of th... ORPHA:231226
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Pancreatic adenocarcinoma, Nephrolithiasis, Renal cortical adenoma, Polycy... OMIM:145001
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, J... OMIM:603552
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Mucopolysacchariduria, Generalized bone demineralization, Nephrotic s... OMIM:215250
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Shwachman-Diamond Syndrome
Neutropenia, Pancreatic hypoplasia, Leukemia, Metaphyseal irregularity, Hearing impairment, Pancy... ORPHA:811
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Elevated circulating creatine kinase concentration, Hepatomegaly, Growth delay, Delayed puberty OMIM:615704
Intermediate Osteopetrosis
Optic atrophy from cranial nerve compression, Abnormality of bone mineral density, Generalized os... ORPHA:210110
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Talipes equinovarus, Metaphyseal irregularity, Long fibula, Iliac crest serration, S... OMIM:250220
Bile Acid Malabsorption, Primary, 2
Decreased circulating chenodeoxycholic acid concentration, Elevated gamma-glutamyltransferase lev... OMIM:619481
Trisomy 17P
Urethral valve, Hydronephrosis, Urethral stenosis, Tapered finger, Hearing impairment, Polycystic... ORPHA:261290
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Eleva... OMIM:619064
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... OMIM:612561
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... OMIM:255120
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Metatarsus adductus, Talipes equinovarus, Epiphyseal stippling, Failure to thrive, ... OMIM:614866
Microgastria-Limb Reduction Defect Syndrome
Phocomelia, Renal dysplasia, Aplastic clavicle, Abnormality of the radius, Abnormality of the hum... ORPHA:2538
Beta-Thalassemia Major
Dilated cardiomyopathy, Failure to thrive in infancy, Anisopoikilocytosis, Hypochromic microcytic... ORPHA:231214
Mitochondrial Myopathy, Infantile, Transient
Hepatomegaly, Elevated circulating creatine kinase concentration, Failure to thrive, Increased se... OMIM:500009
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Wilson Disease
Hemolytic anemia, Hepatomegaly, Hypoparathyroidism, Renal tubular dysfunction, Hyperphosphaturia,... OMIM:277900
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Cholelithiasis, Increased total bilirubin, Splenomegaly, Increased c... ORPHA:3202
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Hydronephrosis, Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Sensorine... OMIM:598500
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... OMIM:618805
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Microphthalmia, Congenital hip dislocation OMIM:164180
Gracile Syndrome
Decreased transferrin saturation, Intrauterine growth retardation, Elevated hepatic iron concentr... ORPHA:53693
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Bradycardia, Neonatal hypoglycemia, Cong... OMIM:261740
Atrial Standstill 2
Atrial standstill, Scarring, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Ab... OMIM:615745
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Hepatomegaly, Splenomegaly OMIM:608971
Erythrokeratodermia Variabilis
Tapered finger, Weight loss, Hearing impairment, Abnormal testis morphology, Corneal opacity, Cat... ORPHA:317
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Increased level of L-pyroglutamic acid in urine, Intention tremor OMIM:266130
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Hepatomegaly, Splenomegaly OMIM:618495
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Ascites, Congenital hepatic fibrosis,... ORPHA:84081
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Maternal diabetes, Reduced ejection fraction, Supraventricular tachycardia,... ORPHA:45452
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Corneal opacity, U... ORPHA:137902
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Focal segmental glomerulosclerosis, Neutropenia, Minim... ORPHA:1830
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Pancyt... OMIM:618963
Fumarase Deficiency
Failure to thrive, Cholestasis, Hepatic failure, Hyperbilirubinemia OMIM:606812
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Arthritis, Splenomegaly, Increased bone mineral density ORPHA:37748
Solute carrier family 4 (anion exchanger), member 1
Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:109270
Acitretin/Etretinate Embryopathy
Conotruncal defect, Third degree atrioventricular block, Abnormality of the calcaneus, Atrioventr... ORPHA:40366
Lcat Deficiency
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kidney injury, Cornea... ORPHA:650
Relapsing Fever
Elevated circulating creatinine concentration, Increased total bilirubin, Increased circulating l... ORPHA:91547
Subacute Inflammatory Demyelinating Polyneuropathy
Limited elbow flexion, Leukocytosis, Decreased motor nerve conduction velocity, Abnormality of so... ORPHA:206594
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Osteopenia, Oligosacchariduria, Hepatosplenomegaly, Corneal opacity, Mixed hea... ORPHA:309288
Walker-Warburg Syndrome
Microcornea, Optic atrophy, Microphthalmia, Anophthalmia, Posteriorly rotated ears, Iris coloboma... ORPHA:899
Specific Granule Deficiency 2
Neutropenia, Absent neutrophil specific granules, Simple ear, Failure to thrive, Anemia, Posterio... OMIM:617475
Propionic Acidemia
Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hyperammonemia ORPHA:35
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Talipes equinovarus, Failure to thrive, Low-set, posteriorly rotated ears, Aplasia/H... ORPHA:98791
Meckel Syndrome, Type 1
Ambiguous genitalia, female, Splenomegaly, Ambiguous genitalia, male, Accessory spleen, Iris colo... OMIM:249000
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... OMIM:115200
Pendred Syndrome
Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen... ORPHA:705
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Corneal opacity, Limitation of join... ORPHA:93476
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Conductive hearing impairment, Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing... ORPHA:2502
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:617872
Majeed Syndrome
Leukocytosis, Hepatomegaly, Cachexia, Synovitis, Hypochromic microcytic anemia, Failure to thrive... ORPHA:77297
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Galactosemia I
Hepatomegaly, Hypergalactosemia, Failure to thrive, Increased level of galactitol in red blood ce... OMIM:230400
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst, Epiphyseal stippling OMIM:614870
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Short stature, Splenomegaly ORPHA:417
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, Abn... ORPHA:348
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... OMIM:600785
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Pericardial effusion, Small for gestation... OMIM:618775
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Microphthalmia, Syndromic 5
Microcornea, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Micropenis, Cataract, Ectopic ... OMIM:610125
Carpenter Syndrome 1
Genu varum, Joint contracture of the hand, Deviation of finger, Shallow acetabular fossae, Campto... OMIM:201000
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Hyperisoleucinemia, Failure to thrive, Hyperammonemia, Elevated plasma branched cha... ORPHA:2394
Familial Thyroid Dyshormonogenesis
Abnormality of epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Umbilical ... ORPHA:95716
Hepatocellular Carcinoma
Hepatomegaly, Hyponatremia, Hypercalcemia, Hemobilia, Ascites, Hypokalemia, Weight loss, Hepatic ... ORPHA:88673
Acute Monoblastic/Monocytic Leukemia
Progressive hearing impairment, Leukocytosis, Weight loss, Anemia, Hypochromic anemia, Oliguria, ... ORPHA:514
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Microphthalmia, Sclerocornea, Anophthalmia, Iris coloboma, Hearing impairment, Crypt... ORPHA:77298
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulating c... ORPHA:370
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Anophthalmia, Prominent ear helix, Hypsarrhythmia, Multifocal epileptiform discharges ORPHA:411986
Blackfan-Diamond Anemia
Hypospadias, Neutropenia, Triphalangeal thumb, Normochromic anemia, Erythroid hypoplasia, Reticul... ORPHA:124
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver ORPHA:79168