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Gene: Robo3 MGI:1343102

Gene Summary

Name:

roundabout guidance receptor 3

Synonyms:

Robo3b, Robo3a, Rig-1, Rig1, Rbig1

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	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Robo3^em1(IMPC)H	HOM	Early adult	0.00
increased heart weight	Robo3^em1(IMPC)H	HET	Early adult	1.49×10^-05
increased circulating bilirubin level	Robo3^em1(IMPC)H	HET	Early adult	2.48×10^-05
abnormal retina morphology	Robo3^em1(IMPC)H	HET	Early adult	2.47×10^-11
decreased circulating glucose level	Robo3^em1(IMPC)H	HET	Early adult	1.98×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

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.

MicroCT E18.5

Embryo reconstruction

4 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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Human diseases caused by Robo3 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 Robo3 (2 diseases)
Human diseases predicted to be associated with Robo3 (524 diseases)

The table below shows human diseases associated to Robo3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1		Torticollis	OMIM:607313
Horizontal Gaze Palsy With Progressive Scoliosis			ORPHA:2744

The table below shows human diseases predicted to be associated to Robo3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ataxia, Sensory, 1, Autosomal Dominant	Babinski sign, Positive Romberg sign, Gait instability, worse in the dark, Sensory ataxia	OMIM:608984
Spinocerebellar Ataxia, X-Linked 2	Ataxia, Abnormality of extrapyramidal motor function	OMIM:302600
Posterior Column Ataxia	Impaired vibratory sensation, Ataxia, Impaired proprioception	OMIM:176250
Ataxia-Oculomotor Apraxia Type 1	Ataxia, Gait disturbance	ORPHA:1168
Cerebellar Ataxia, Benign, With Thermoanalgesia	Progressive cerebellar ataxia, Impaired temperature sensation	OMIM:212890
Episodic Ataxia Type 5	Ataxia, Truncal ataxia	ORPHA:211067
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Atonic-Astatic Syndrome Of Foerster	Inability to walk, Ataxia, Abasia	OMIM:209100
Spinocerebellar Ataxia Type 4	Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d...	ORPHA:98765
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Neuhauser-Eichner-Opitz Syndrome	Rigidity, Spasticity, Hypertonia, Ataxia	ORPHA:2672
Spastic Ataxia With Congenital Miosis	Spastic ataxia, Hemiplegia/hemiparesis, Ataxia	ORPHA:1182
Spinocerebellar Ataxia Type 23	Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax...	ORPHA:101108
Episodic Ataxia, Type 7	Episodic ataxia	OMIM:611907
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia	Episodic ataxia	ORPHA:1179
Spastic Paraplegia 72, Autosomal Recessive	Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa...	OMIM:615625
Cerebellar Ataxia And Neurosensory Deafness	Ataxia	OMIM:212850
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome	Ataxia	ORPHA:1180
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration	Ataxia	OMIM:242520
Spinocerebellar Ataxia Type 30	Limb ataxia, Gait ataxia	ORPHA:211017
Episodic Ataxia, Type 8	Episodic ataxia, Slurred speech, Ataxia, Intention tremor	OMIM:616055
Cataract-Ataxia-Deafness-Retardation Syndrome	Ataxia, Distal sensory impairment	OMIM:212710
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Limb ataxia, Gait ataxia	ORPHA:284282
Spinocerebellar Ataxia 41	Unsteady gait, Ataxia, Gait ataxia	OMIM:616410
Spinocerebellar Ataxia Type 41	Gait ataxia	ORPHA:458798
Spinocerebellar Ataxia, Autosomal Recessive 25	Babinski sign, Ataxia, Dysmetria, Truncal ataxia	OMIM:617584
Cerebral Palsy, Ataxic, Autosomal Recessive	Broad-based gait, Cerebral palsy, Dysdiadochokinesis	OMIM:605388
Spinocerebellar Ataxia 45	Limb ataxia, Gait ataxia	OMIM:617769
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Ataxia	OMIM:136600
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Unsteady gait, Scissor...	ORPHA:101010
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
X-Linked Spinocerebellar Ataxia Type 4	Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking	ORPHA:85292
Cerebellar Ataxia, Cayman Type	Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia	OMIM:601238
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Intention tremor	ORPHA:94122
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia	OMIM:615268
Ataxia, Deafness, And Cardiomyopathy	Ataxia	OMIM:208750
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	Ataxia, Apraxia	ORPHA:85338
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Spinocerebellar Ataxia 31	Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Unsteady gait, Ataxia	OMIM:615945
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Spinocerebellar Ataxia, Autosomal Recessive 24	Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Somatic sensory dysfunction, Unsteady gait, Abnormal pyramidal sign, Impaired proprioception, Lim...	ORPHA:95434
Spinocerebellar Ataxia 35	Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul...	OMIM:613908
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Inability to walk, Ataxia	OMIM:619333
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Hypoglycemia, Cardiomyopathy, Hepatomegaly	OMIM:609016
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Spinocerebellar Ataxia, Autosomal Recessive 22	Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,...	OMIM:616948
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,...	ORPHA:423275
Polymyoclonus, Infantile	Ataxia, Myoclonus	OMIM:263550
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentratio...	OMIM:620010
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Spinocerebellar Ataxia 11	Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia	OMIM:604432
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance	ORPHA:228169
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia	OMIM:179700
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Malaria	Retinopathy, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis	ORPHA:67047
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough	OMIM:263000
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Hepatomegaly, Hyperbilirubinemia	OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ...	OMIM:619868
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Spinocerebellar Ataxia, Autosomal Recessive 6	Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor	OMIM:608029
Ethanolaminosis	Cardiomegaly	OMIM:227150
Striatal Degeneration, Autosomal Dominant 1	Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance	OMIM:609161
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus	OMIM:125370
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W...	ORPHA:1302
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory...	OMIM:265120
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements	OMIM:618425
Spinocerebellar Ataxia, Autosomal Recessive 14	Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor	OMIM:615386
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Spinocerebellar Ataxia 4	Progressive cerebellar ataxia, Babinski sign, Limb dysmetria, Distal sensory impairment	OMIM:600223
Orthostatic Intolerance	Orthostatic tachycardia	OMIM:604715
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Ataxia, Myoclonus, Dysmetria	OMIM:619191
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Neonatal hyperbilirubinemia, Retinal degeneration	ORPHA:3363
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Spinocerebellar Ataxia, Autosomal Recessive 26	Impaired distal proprioception, Impaired distal vibration sensation, Unsteady gait, Dysmetria, Ga...	OMIM:617633
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Spinocerebellar Ataxia 44	Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi...	ORPHA:284324
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Spinocerebellar Ataxia Type 26	Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia...	ORPHA:101112
Glycogen Storage Disease Vi	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia	OMIM:232700
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co...	OMIM:610910
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Myoclonic Epilepsy, Familial Infantile	Ataxia, Impaired tandem gait, Limb ataxia, Gait ataxia	OMIM:605021
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Splenomegaly, Increased total iron binding capacity, Increased serum bile acid conc...	OMIM:616278
Spinocerebellar Ataxia 26	Incoordination, Truncal ataxia, Limb ataxia, Gait ataxia	OMIM:609306
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent...	OMIM:615160
Asbestos Intoxication	Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh...	ORPHA:2302
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif...	OMIM:610921
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Abnormal autonomic nervous system physiology, Poor wound healing	OMIM:615548
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Breath-Holding Spells	Cyanosis	OMIM:607578
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Hepatomegaly, Increased serum bile acid concentration	OMIM:243300
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, P...	ORPHA:79159
Hepatic Veno-Occlusive Disease	Hepatomegaly, Increased total bilirubin	ORPHA:890
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Isolated Polycystic Liver Disease	Hepatomegaly, Increased total bilirubin	ORPHA:2924
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hepatomegaly, Hyperlipidemia, Splenomegaly	OMIM:214900
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red...	OMIM:610913
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno...	OMIM:616860
Spinocerebellar Ataxia Type 19/22	Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff...	ORPHA:98772
Mitchell Syndrome	Respiratory insufficiency due to muscle weakness, Abnormal autonomic nervous system physiology	OMIM:618960
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Atrial septal defect, Hype...	OMIM:620211
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Persistent Idiopathic Facial Pain	Abnormal autonomic nervous system physiology	ORPHA:398147
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Hepatomegaly	OMIM:619232
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk...	OMIM:609270
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:601820
Choanal Atresia	Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno...	ORPHA:137914
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr...	ORPHA:2257
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Spinocerebellar Ataxia, Autosomal Recessive 11	Gait disturbance, Ataxia, Limb ataxia, Truncal ataxia	OMIM:614229
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:269920
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu...	OMIM:614300
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr...	ORPHA:766
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy	ORPHA:35
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Facial palsy, Restrictive ventilatory defect, Respir...	ORPHA:98913
Nystagmus, Hereditary Vertical	Ataxia	OMIM:164150
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm...	ORPHA:247598
Spherocytosis, Type 4	Splenomegaly, Hyperbilirubinemia	OMIM:612653
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper...	OMIM:619170
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Harderoporphyria	Splenomegaly, Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Hepatome...	OMIM:618892
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin	OMIM:616299
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor...	ORPHA:101
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia	OMIM:613986
Acute Interstitial Pneumonia	Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato...	ORPHA:79126
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO	ORPHA:747
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir...	OMIM:618528
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia, Hepatomegaly	OMIM:605479
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert...	OMIM:619751
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Hypoglycemia, Optic atrophy, Hypertrophic cardi...	OMIM:300438
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hepatomegaly, Hyperbilirubinemia	OMIM:235555
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia	ORPHA:6
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Ataxia	ORPHA:3350
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote...	OMIM:617049
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Spherocytosis, Type 1	Splenomegaly, Hyperbilirubinemia	OMIM:182900
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hypoglycemia, Hyperammonemia	ORPHA:664
Spherocytosis, Type 2	Splenomegaly, Hyperbilirubinemia	OMIM:616649
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Death in infancy, Abnormal autonomic nervous system physiology, Abnormal pattern of respiration	ORPHA:168593
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158057
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Fanconi-Bickel Syndrome	Hepatomegaly, Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increas...	OMIM:227810
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Retinal dystrophy, Hyperbilirubinemia	ORPHA:713
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperb...	ORPHA:348
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Hyperbilirubinemia	OMIM:609734
Hereditary Methemoglobinemia	Cyanosis, Exertional dyspnea	ORPHA:621
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Hyperalaninemia,...	OMIM:614702
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Hyperbilirubinemia	OMIM:235700
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Increased total bilirubin	ORPHA:90037
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Hepatomegaly, Abnormal chorioretinal morphology, Hypoglycemi...	ORPHA:5
Multiple System Atrophy	Stridor, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Autonomic e...	ORPHA:102
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Hypoalb...	ORPHA:1667
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Hepatomegaly	ORPHA:234
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Ventricular septal defect, Conjugated hyperbilirubinemia, Glycosuria, Right ventric...	OMIM:613404
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Hepatomegaly, Hyperbilirubinemia	OMIM:214950
Buerger Disease	Acrocyanosis	ORPHA:36258
Congenital Tracheomalacia	Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co...	ORPHA:95430
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent...	OMIM:608836
Haddad Syndrome	Death in infancy, Aganglionic megacolon, Central hypoventilation, Breathing dysregulation, Abnorm...	ORPHA:99803
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Hypoglycemia, Hyperuricemia	OMIM:261750
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Dehydrated Hereditary Stomatocytosis 2	Splenomegaly, Hepatomegaly, Hyperbilirubinemia	OMIM:616689
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Respiratory insufficiency, Abnormal autonomic nervous system phy...	ORPHA:97229
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Abnormal serum bile acid concent...	ORPHA:79303
Bachmann-Bupp Syndrome	Hypoglycemia, Hyperbilirubinemia	OMIM:619075
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly	OMIM:601847
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi...	OMIM:617156
Epilepsy, Familial Focal, With Variable Foci 4	Abnormal autonomic nervous system physiology	OMIM:617935
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:618838
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Optic atrophy, Apnea	OMIM:261680
Multiple System Atrophy, Parkinsonian Type	Stridor, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Autonomic e...	ORPHA:98933
Tricuspid Atresia	Cyanosis	ORPHA:1209
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis	ORPHA:444013
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, H...	OMIM:251880
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:79302
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Death in infancy, Apnea, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:614498
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Respiratory insufficiency	OMIM:601612
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly	OMIM:266150
Pulmonary Capillary Hemangiomatosis	Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple...	ORPHA:199241
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia	ORPHA:73272
Larsen-Like Syndrome, Lethal Type	Neonatal death, Tracheomalacia, Respiratory insufficiency	OMIM:245650
Hypermanganesemia With Dystonia 1	Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly	OMIM:211600
Central Hypoventilation Syndrome, Congenital, 1	Hypoventilation, Apnea, Aganglionic megacolon, Hypercapnia, Central hypoventilation, Hypoxemia, A...	OMIM:209880
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Hepatomegaly, Hyperbilirubinemia	OMIM:185000
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri...	ORPHA:2038
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:605543
Congenital Heart Block	Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Hypera...	ORPHA:3008
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology	ORPHA:101046
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Elevated circulating long chain fatty acid concentration, Double outlet rig...	OMIM:614886
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology	ORPHA:369873
Liver Failure, Infantile, Transient	Hepatomegaly, Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Pyruvate Kinase Deficiency Of Red Cells	Splenomegaly, Hepatomegaly, Reduced haptoglobin level, Unconjugated hyperbilirubinemia	OMIM:266200
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Hypocholesterolemia	OMIM:607765
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia...	OMIM:619662
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Apnea, Abnormal autonomic nervous system physiology, Hyperventilation	OMIM:617903
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95715
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia	OMIM:615710
Multiple System Atrophy, Cerebellar Type	Stridor, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Autonomic e...	ORPHA:227510
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:329284
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:610743
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinem...	OMIM:613673
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Hepatomegaly, Cardi...	ORPHA:14
Tetanus	Respiratory distress, Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder ...	ORPHA:3299
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:619685
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Glycogen Storage Disease Vii	Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin	OMIM:232800
Congenital Dyserythropoietic Anemia Type Iii	Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia	ORPHA:98870
Congenital Myasthenic Syndrome	Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle...	ORPHA:98914
Hepatoportal Sclerosis	Splenomegaly, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia	OMIM:617093
Bile Acid Synthesis Defect, Congenital, 3	Splenomegaly, Hepatomegaly, Hyperbilirubinemia	OMIM:613812
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Conjugated hyperbilirubinemia, Atrial septal defect, Patent foramen ov...	OMIM:208085
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor	OMIM:207950
Hereditary Elliptocytosis	Splenomegaly, Neonatal hyperbilirubinemia, Hyperbilirubinemia	ORPHA:288
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S...	OMIM:603553
Pulmonary Alveolar Microlithiasis	Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:60025
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f...	ORPHA:555874
Attrv30M Amyloidosis	Abnormal autonomic nervous system physiology	ORPHA:85447
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology, Cough	OMIM:614575
Parkinsonism-Dystonia 2, Infantile-Onset	Abnormal autonomic nervous system physiology	OMIM:618049
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:95716
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T...	OMIM:255120
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ...	ORPHA:90051
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p...	ORPHA:1329
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Hepatomegaly, Splenomegaly, Optic atrophy, Hepatosplenomegaly, Hypocalcemia, H...	OMIM:259720
Dehydrated Hereditary Stomatocytosis	Splenomegaly, Increased circulating ferritin concentration, Abnormal blood potassium concentratio...	ORPHA:3202
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Anemia, Congenital Dyserythropoietic, Type Ia	Splenomegaly, Hepatomegaly, Hyperbilirubinemia	OMIM:224120
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Fasting hypoglycemia	OMIM:613027
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:598500
Fatal Familial Insomnia	Apnea, Abnormal autonomic nervous system physiology	OMIM:600072
Hereditary Spherocytosis	Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy, Hyperbilirubinemia	ORPHA:822
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Glycogen Storage Disease Xii	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperbilirubinemi...	OMIM:611881
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:243180
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Splenomegaly, Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilir...	OMIM:300908
Distal Xq28 Microduplication Syndrome	Patent foramen ovale, Neonatal hyperbilirubinemia	ORPHA:293939
Hsd10 Disease, Infantile Type	Cyanosis, Optic atrophy	ORPHA:391428
Wild Type Attr Amyloidosis	Pleural effusion, Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Or...	ORPHA:330001
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatomegaly, Ventricular septal defect, Conjugated hyperbilirubinemia, Splenomegaly, Optic nerve...	OMIM:614866
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Hepatomegaly, Increased circulating very long-chain fatty acid con...	OMIM:614887
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Fructose Intolerance, Hereditary	Hepatomegaly, Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbilirubinemia, Hypoph...	OMIM:229600
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Cyanosis, Tachypnea	ORPHA:860
Cystic Echinococcosis	Hepatomegaly, Hyperbilirubinemia, Abnormal heart morphology	ORPHA:400
Congenital Fibrinogen Deficiency	Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage	ORPHA:335
Infantile Liver Failure Syndrome 2	Cardiomyopathy, Hypoglycemia, Hyperammonemia	OMIM:616483
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Retinal hemorrhage, Abnormal heart morphology, Vitreous hemorrhage, Hyperbilirubinemia, Hypertrop...	ORPHA:464321
Intrahepatic Cholestasis Of Pregnancy	Increased serum bile acid concentration, Hyperbilirubinemia	ORPHA:69665
Rh Deficiency Syndrome	Reduced haptoglobin level, Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:71275
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Infantile Neuroaxonal Dystrophy	Optic atrophy, Apneic episodes in infancy, Abnormal autonomic nervous system physiology, Aspirati...	ORPHA:35069
Pure Autonomic Failure	Orthostatic hypotension, Abnormal autonomic nervous system physiology	ORPHA:441
Wilson Disease	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, Hypo...	OMIM:277900
Tetrasomy 5P	Respiratory distress, Pulmonary arterial hypertension, Cyanosis	ORPHA:3309
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona...	ORPHA:99106
Graft Versus Host Disease	Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:39812
Waardenburg Syndrome Type 3	Tracheomalacia, Acrocyanosis	ORPHA:896
Fumarase Deficiency	Perimembranous ventricular septal defect, Optic atrophy, Hyperbilirubinemia	OMIM:606812
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:613870
Posttransplant Acute Limbic Encephalitis	Abnormal autonomic nervous system physiology	ORPHA:163921
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea	OMIM:619580
Double Outlet Right Ventricle	Cyanosis, Tachypnea	ORPHA:3426
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Autonomic bladder dysfunction, Autonomic erectile dysfunction, Orthostatic hypotension due to aut...	OMIM:169500
Autoimmune Hepatitis	Splenomegaly, Increased total bilirubin	ORPHA:2137
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hepatomegaly, Hyperkalemia, Splenomegaly	OMIM:608885
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte...	ORPHA:99104
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia	ORPHA:1867
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration, Hyper...	ORPHA:567983
Fabry Disease	Abnormal autonomic nervous system physiology, Angiokeratoma, Airway obstruction, Angiokeratoma co...	OMIM:301500
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Glycosuria, Hypophosphatemia	OMIM:616026
Ethylene Glycol Poisoning	Cyanosis, Facial palsy, Episodic respiratory distress, Tachypnea, Abnormal pattern of respiration	ORPHA:31826
Variant Abeta2M Amyloidosis	Abnormal autonomic nervous system physiology	ORPHA:314652
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis	OMIM:614407
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocyanosis, Pu...	ORPHA:183
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Optic disc pallor, Cyanosis, Apnea, Optic neuropathy, Respiratory insufficiency...	OMIM:252010
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni...	OMIM:615751
Liver Disease, Severe Congenital	Hyponatremia, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Elevated circulat...	OMIM:619991
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Erythema, Acrocyanosis, Purpura	ORPHA:343
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis	ORPHA:3304
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Al Amyloidosis	Nonproductive cough, Dyspnea, Abnormal autonomic nervous system physiology, Postural hypotension ...	ORPHA:85443
Erythermalgia, Primary	Abnormal autonomic nervous system physiology	OMIM:133020
Pearson Marrow-Pancreas Syndrome	Type I diabetes mellitus, Hepatomegaly, Hyperbilirubinemia	OMIM:557000
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,...	OMIM:256800
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Neurooculorenal Syndrome	Dextrocardia, Conjugated hyperbilirubinemia, Mitral valve prolapse, Recurrent hypoglycemia, Tetra...	OMIM:620305
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased sensitivity to hypoxemia, Orthostatic hypotension, Acrocyanosis	OMIM:223900
Esophageal Atresia	Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res...	ORPHA:1199
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Inherited Creutzfeldt-Jakob Disease	Vestibular nystagmus, Abnormal autonomic nervous system physiology	ORPHA:282166
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk...	OMIM:187300
Meckel Syndrome 14	Pneumothorax, Cyanosis, Cardiorespiratory arrest	OMIM:619879
Lathosterolosis	Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H...	OMIM:607330
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru...	OMIM:618278
Hardikar Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Partial anomalous pulmonary venous return,...	OMIM:301068
Melkersson-Rosenthal Syndrome	Abnormal autonomic nervous system physiology, Facial palsy	ORPHA:2483
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Atrial septal defect, Ventricular septal defect, Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Caroli Disease	Conjugated hyperbilirubinemia, Hepatomegaly, Abnormal circulating alpha-fetoprotein concentration...	ORPHA:53035
Absence Of The Pulmonary Artery	Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni...	ORPHA:980
Unilateral Polymicrogyria	Epistaxis, Cyanosis, Giant somatosensory evoked potentials, Apnea	ORPHA:268943
Aicardi-Goutieres Syndrome 1	Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Poems Syndrome	Papilledema, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pu...	ORPHA:2905
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:616683
Neurodegeneration With Brain Iron Accumulation 5	Abnormal autonomic nervous system physiology	OMIM:300894
Caroli Syndrome	Conjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia	ORPHA:480520
Cranioectodermal Dysplasia 2	Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Atrial septal defect, Left ventricular hypertroph...	OMIM:613610
Alexander Disease Type Ii	Abnormal autonomic nervous system physiology	ORPHA:363722
Reynolds Syndrome	Calcinosis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:613471
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:466934
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90673
Caribbean Parkinsonism	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction	ORPHA:97355
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly	ORPHA:30391
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Double outlet right ventricle, Mitral stenosis, Tetralogy of Fallot, P...	ORPHA:163956
Porphyria Variegata	Cutaneous photosensitivity, Respiratory paralysis, Abnormal autonomic nervous system physiology	ORPHA:79473
Romano-Ward Syndrome	Abnormal autonomic nervous system physiology	ORPHA:101016
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Cyanosis, Apnea	OMIM:261740
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Retinal degeneration	OMIM:208500
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90674
Rett Syndrome	Abnormal autonomic nervous system physiology, Abnormal pattern of respiration	ORPHA:778
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia, Hepatosplenomegaly	ORPHA:168577
Double Outlet Left Ventricle	Cyanosis, Tachypnea	ORPHA:3427
Stuve-Wiedemann Syndrome 1	Death in infancy, Apnea, Respiratory insufficiency, Abnormal autonomic nervous system physiology,...	OMIM:601559
Tremor-Ataxia-Central Hypomyelination Syndrome	Optic atrophy, Autonomic bladder dysfunction	ORPHA:447896
Tarp Syndrome	Cyanosis, Optic atrophy, Apnea	ORPHA:2886
Histiocytoid Cardiomyopathy	Tachypnea, Cyanosis, Optic atrophy, Cough	ORPHA:137675
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventricular septal defect, Bicuspid aortic valve, Hyperbilirubinemia, Chorioretinal coloboma	OMIM:619475
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta...	OMIM:610655
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology	ORPHA:85451
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:231550
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Abnormal autonomic nervous system physiology, Aspiration, Flushing	ORPHA:2131
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatomegaly, Cor triatriatum, Ventricular septal defect, Dextrocardia, Conjugated hyperbilirubin...	OMIM:619534
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis	OMIM:617478
Myasthenia Gravis	Dyspnea, Acrocyanosis	ORPHA:589
Degcags Syndrome	Hepatomegaly, Ventricular septal defect, Hepatosplenomegaly, Hyperbilirubinemia, Pulmonic stenosi...	OMIM:619488
Amyloidosis, Hereditary, Transthyretin-Related	Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction	OMIM:105210
Goodpasture Syndrome	Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ...	OMIM:233450
Machado-Joseph Disease	Abnormal autonomic nervous system physiology	OMIM:109150
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis	ORPHA:2326
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest, Abnormal au...	ORPHA:293987
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Abnormal autonomic nervous system physiology	ORPHA:83601
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Optic disc coloboma, Unconjugated hyperbilirubinemia, Atrial septal defect, Patent foramen ovale,...	OMIM:620186
Senior-Boichis Syndrome	Hepatosplenomegaly, Increased total bilirubin	ORPHA:84081
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormal autonomic nervous system p...	ORPHA:99027
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoglycemia	OMIM:613658
Ramos-Arroyo Syndrome	Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology	ORPHA:1051
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea	ORPHA:2299
Wolfram Syndrome	Central apnea, Optic atrophy, Abnormal autonomic nervous system physiology, Respiratory insuffici...	ORPHA:3463
Parkinson Disease 23, Autosomal Recessive Early-Onset	Abnormal autonomic nervous system physiology	OMIM:616840
Familial Dysautonomia	Orthostatic hypotension, Acrocyanosis, Optic atrophy	ORPHA:1764
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Muscular ventricular septal defect, Hyperbilirubinemia, Atrial septal ...	OMIM:210710
Combined Oxidative Phosphorylation Defect Type 29	Abnormal autonomic nervous system physiology, Optic neuropathy	ORPHA:478029
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Abnormal autonomic nervous system physiology	ORPHA:300570
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Pitt-Hopkins Syndrome	Acrocyanosis, Aganglionic megacolon, Abnormal pattern of respiration, Hyperventilation	ORPHA:2896
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea	ORPHA:99050
Congenital Disorder Of Glycosylation, Type Iim	Atrial septal defect, Rod-cone dystrophy, Neonatal hyperbilirubinemia	OMIM:300896
Parkinson Disease, Late-Onset	Abnormal autonomic nervous system physiology	OMIM:168600
Congenital Erythropoietic Porphyria	Abnormal circulating porphyrin concentration, Splenomegaly, Unconjugated hyperbilirubinemia, Incr...	ORPHA:79277
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal autonomic nervous system physiology, Abnormal cranial nerve morphology	ORPHA:247234
Yellow Fever	Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating creat...	ORPHA:99829
Lambert-Eaton Myasthenic Syndrome	Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction	ORPHA:43393
Trisomy 20P	Abnormal autonomic nervous system physiology	ORPHA:261318
Hyperoxaluria, Primary, Type I	Optic atrophy, Acrocyanosis, Cutis marmorata, Optic neuropathy	OMIM:259900
Young-Onset Parkinson Disease	Abnormal autonomic nervous system physiology	ORPHA:2828
Alexander Disease	Abnormal autonomic nervous system physiology, Facial palsy, Respiratory insufficiency	ORPHA:58
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:146500
Heterotaxy, Visceral, 7, Autosomal	Cyanosis	OMIM:616749
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul...	ORPHA:97214
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology	ORPHA:71273
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Pleural effusion, Abnormal autonomic nervous system physiology	ORPHA:453499
Parkinsonian-Pyramidal Syndrome	Abnormal autonomic nervous system physiology	ORPHA:171695
Paroxysmal Nocturnal Hemoglobinuria	Decreased serum iron, Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Glycosuria,...	ORPHA:447
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cyanosis	OMIM:306955
Dermatomyositis	Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial...	ORPHA:221
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper...	ORPHA:740
Neuroleptic Malignant Syndrome	Abnormal autonomic nervous system physiology, Aspiration pneumonia, Pulmonary embolism	ORPHA:94093
Primary Hyperoxaluria	Optic atrophy, Acrocyanosis, Cutis marmorata, Optic disc pallor	ORPHA:416
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Abnormality of the peripheral nervous system, Vascu...	ORPHA:48435
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea, Abnormal autonomic nervous system physiology	ORPHA:3206
Tick-Borne Encephalitis	Abnormal glossopharyngeal nerve morphology, Abnormal autonomic nervous system physiology, Facial ...	ORPHA:297
Johanson-Blizzard Syndrome	Hepatomegaly, Diabetes mellitus, Ventricular septal defect, Increased VLDL cholesterol concentrat...	OMIM:243800
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy...	ORPHA:99125
Acute Transverse Myelitis	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction	ORPHA:139417
Fragile X-Associated Tremor/Ataxia Syndrome	Abnormal autonomic nervous system physiology	ORPHA:93256
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosi...	ORPHA:287
Nmda Receptor Encephalitis	Orthostatic tachycardia, Abnormal sudomotor regulation, Abnormal autonomic nervous system physiol...	ORPHA:217253
Truncus Arteriosus	Cyanosis, Tachypnea	ORPHA:3384
Aicardi-Goutières Syndrome	Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice	ORPHA:51
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Cyanosis	ORPHA:51608
Leprosy	Epistaxis, Abnormality of the seventh cranial nerve, Abnormal autonomic nervous system physiology	ORPHA:548
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Acrocyanosis, Apnea	ORPHA:285
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Coffin-Lowry Syndrome	Acrocyanosis, Cutis marmorata	OMIM:303600
Choreoacanthocytosis	Abnormal autonomic nervous system physiology, Decreased amplitude of sensory action potentials	ORPHA:2388
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Torticollis	OMIM:607313
Horizontal Gaze Palsy With Progressive Scoliosis		ORPHA:2744

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Robo3

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 Robo3.

No publications found that use IMPC mice or data for Robo3.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Robo3^{tm48572(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Robo3^em1(IMPC)H	Intra-exon deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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