Gene Summary

Name:
tryptophan hydroxylase 2
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
enlarged spleen Tph2em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Tph2em1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Tph2em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Tph2em1(IMPC)Mbp HET Early adult 0.00
small liver Tph2em1(IMPC)Mbp HET Early adult 0.00
abnormal brain morphology Tph2em1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Tph2em1(IMPC)Mbp HET Early adult 0.00
increased brain size Tph2em1(IMPC)Mbp HET Early adult 0.00

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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.

Phenotype associated images not available

Human diseases caused by Tph2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tph2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Afibrinogenemia, Congenital
Splenic rupture OMIM:202400
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Geniospasm 1
Anxiety OMIM:190100
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Hypoplasia of the olfactory bulb, Abnormality of the basal ganglia OMIM:618646
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608631
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Decreased response to growth hormone stimulation test, Pituitar... OMIM:614963
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Riboflavin Transporter Deficiency
Hypertension, Cachexia, Optic disc pallor, Abnormal cranial nerve morphology, Diabetes insipidus,... ORPHA:97229
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Obesity, Attention deficit hyperactivity diso... ORPHA:369873
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Multiple System Atrophy, Parkinsonian Type
Stridor, Axial dystonia, Orthostatic hypotension due to autonomic dysfunction, Orthostatic syncop... ORPHA:98933
Multiple System Atrophy, Cerebellar Type
Stridor, Axial dystonia, Orthostatic hypotension due to autonomic dysfunction, Orthostatic syncop... ORPHA:227510
Dystonia 30
Hypothalamic hamartoma, Globus pallidus hypointensity on susceptibility-weighted imaging, Diffuse... OMIM:619291
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Chorea, Benign Hereditary
Anxiety OMIM:118700
Early-Onset Schizophrenia
Shyness, No social interaction, Unhappy demeanor, Low self esteem, Suicidal ideation, Lack of pee... ORPHA:96369
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Maternal diabetes, Reduced ejection fraction, Tachypnea, Supraventricular t... ORPHA:45452
Coasy Protein-Associated Neurodegeneration
Abnormal corpus striatum morphology, Abnormal globus pallidus morphology, Abnormal caudate nucleu... ORPHA:397725
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Multiple System Atrophy
Stridor, Axial dystonia, Orthostatic hypotension due to autonomic dysfunction, Orthostatic syncop... ORPHA:102
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Myoclonus-Dystonia Syndrome
Panic attack, Anxiety, Depression, Personality disorder ORPHA:36899
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Anxiety, Normal interictal EEG OMIM:602066
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Caribbean Parkinsonism
Dystonia, Orthostatic hypotension, Bradykinesia, Progressive gait ataxia, Autonomic bladder dysfu... ORPHA:97355
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Dystonia, Aggressive behavior, Bradykinesia, Abnormal autonomic nervous system phy... ORPHA:329284
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Aggressive behavior, Bradykinesia, Abnormal autonomic nervous system physiology OMIM:300894
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr... OMIM:619279
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... ORPHA:79301
Mitchell Syndrome
Respiratory insufficiency due to muscle weakness, Difficulty walking, Abnormal autonomic nervous ... OMIM:618960
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Attrv30M Amyloidosis
Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia, Abnormal autonomic nervous syste... ORPHA:85447
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Apnea, Bradycardia, Abnormal autonomic nervous system physiology OMIM:614498
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... OMIM:616278
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Weight loss, B... ORPHA:330001
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Self-injurious behavior, Abnormal autonomic nervous system physiology OMIM:615548
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Splenomega... OMIM:602347
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... OMIM:214900
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Apneic episodes in infancy, Abnormality of peripheral nerve conductio... ORPHA:35069
Inherited Creutzfeldt-Jakob Disease
Vestibular nystagmus, Akinetic mutism, Apathy, Bradykinesia, Progressive cerebellar ataxia, Irrit... ORPHA:282166
Galactosemia Iii
Jaundice, Hepatomegaly, Splenomegaly OMIM:230350
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613313
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Abnormal pattern of respiration, Cardiac arrest, Sleep apnea, Arrhythmia, Abnormal ... ORPHA:168593
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Tetanus
Hypertension, Tachypnea, Tachycardia, Bradycardia, Respiratory distress, Autonomic bladder dysfun... ORPHA:3299
Young-Onset Parkinson Disease
Dystonia, Gait imbalance, Apathy, Bradykinesia, Panic attack, Anxiety, Impaired social interactio... ORPHA:2828
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Myxopapillary Ependymoma
Unsteady gait, Autonomic bladder dysfunction ORPHA:251643
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Recurrent Respiratory Papillomatosis
Wheezing, Syncope, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respi... ORPHA:60032
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly ORPHA:172
Rett Syndrome
Dystonia, Gait disturbance, Abnormal pattern of respiration, Failure to thrive, Bradykinesia, Ina... ORPHA:778
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Tachypnea, Cough, Tachycardia, Respiratory distress, Acute infectious pneumo... ORPHA:264675
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... OMIM:616828
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the corpus callosum, Cerebral ... OMIM:619072
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Gait disturbance, Abnormal autonomic nervous system ph... ORPHA:139578
Atypical Rett Syndrome
Dystonia, Gait disturbance, Sudden episodic apnea, Abnormal pattern of respiration, Growth delay,... ORPHA:3095
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Bradycardia, Tachycardia, Cardiac arrest, Respiratory failure, N... ORPHA:70587
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Hepatitis, Splenomegaly, Cirrhosis, ... OMIM:613812
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Cerebral vasculitis, Hypothyroidism, Hashimoto thyroiditis, Anxiety, Abnormal autonomic n... ORPHA:83601
Posttransplant Acute Limbic Encephalitis
Dystonia, Anxiety, Ataxia, Abnormal autonomic nervous system physiology ORPHA:163921
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice ORPHA:75234
Parkinsonism-Dystonia 2, Infantile-Onset
Dystonia, Stridor, Shuffling gait, Oculogyric crisis, Gait ataxia, Abnormal autonomic nervous sys... OMIM:618049
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Abnormality of thalamus morphology OMIM:613724
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Tachypnea, Cough, Pulmonary hemorrhage, Decreased DLCO, Restrictive ventilatory defect, Dyspnea OMIM:616414
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... ORPHA:1414
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Short stature, Self-injurious behavior, Premature adrenarche, Abnormality of the hypothalamus-pit... ORPHA:293987
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100025
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Staphylococcal Necrotizing Pneumonia
Shock, Hypoxemia, Pneumonia, Increased circulating procalcitonin concentration, Tachypnea, Pneumo... ORPHA:36238
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Torticollis, Delayed social development, Optic nerve hypoplasia, Spastic ataxia, Inabil... ORPHA:300570
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension, Abnormal autono... ORPHA:441
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:182900
Alexander Disease
Gait disturbance, Hypertension, Respiratory insufficiency, Self-injurious behavior, Failure to th... ORPHA:58
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Fabry Disease
Hypertension, Angina pectoris, Myocardial infarction, Transient ischemic attack, Congestive heart... OMIM:301500
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... OMIM:617514
Haddad Syndrome
Aganglionic megacolon, Small for gestational age, Failure to thrive, Breathing dysregulation, Cen... ORPHA:99803
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Tachypnea, Palpitations, Elevated jugula... ORPHA:2041
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... OMIM:252320
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Alternating Hemiplegia Of Childhood
Dystonia, Abnormal T-wave, Cardiac conduction abnormality, Failure to thrive, Aggressive behavior... ORPHA:2131
Fragile X-Associated Tremor/Ataxia Syndrome
Gait disturbance, Hypertension, Dysmetria, Bradykinesia, Ataxia, Hypothyroidism, Anxiety, Gait at... ORPHA:93256
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Aganglionic megacolon, Tachycardia, Abnormal autonomic nervous system physiology OMIM:613870
Craniopharyngioma
Enlarged pituitary gland, Cerebral calcification, Abnormal hypothalamus morphology, Pituitary hyp... ORPHA:54595
Immunodeficiency 32B
Splenomegaly OMIM:226990
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Diabetes insipidus, Diabetes mellitus, Abnormal autonomic nervous system physiology OMIM:598500
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal P wave, Obstructive sleep apnea, Weight loss, Jaw claudicat... ORPHA:85443
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Hyperactivity, Emotional lability, Postural hypotension with compensatory tachyc... OMIM:256800
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal substantia nigra morph... ORPHA:2822
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Splenomegaly OMIM:121300
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating aldosterone level, Abnormal autonomic nervous system physiology, Optic atro... OMIM:231550
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... OMIM:601847
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Agenesis of corpus callosum, Microcephaly, Abnormality of the p... ORPHA:314621
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Dystonia, Gait disturbance, Apnea, Hyperventilation, Abnormal autonomic nervous system physiology OMIM:617903
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Short stature, Aggressive behavior, Shuffling gait, Hyper... ORPHA:3077
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cough, Ataxia, Limb ataxia, Gait ataxia, Abnormal autonomic nervous system physiology OMIM:614575
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Absent hippocampal commissure, Agenesis of corpus callosum,... OMIM:617542
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal respiratory system physiology, Third heart sound, Exertional dyspnea, Abnormall... ORPHA:99106
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Fatal Familial Insomnia
Ataxia, Weight loss, Apnea, Abnormal autonomic nervous system physiology OMIM:600072
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... OMIM:278000
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thro... OMIM:610333
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure, Intrahepatic cholesta... OMIM:235555
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Abnormal autonomic ... OMIM:105210
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Elevated hepatic transaminase, Splenomegaly, ... OMIM:607765
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level ORPHA:759
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Variant Abeta2M Amyloidosis
Reduced ejection fraction, Abnormal autonomic nervous system physiology ORPHA:314652
Tremor-Ataxia-Central Hypomyelination Syndrome
Dystonia, Optic atrophy, Short stature, Dysmetria, Hypogonadotropic hypogonadism, Ataxia, Autonom... ORPHA:447896
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension, Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Thin skin,... ORPHA:449291
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Machado-Joseph Disease
Dystonia, Bradykinesia, Progressive cerebellar ataxia, Ataxia, Truncal ataxia, Limb ataxia, Abnor... OMIM:109150
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Weight loss, Abnormal autonomic nervous system physiology OMIM:605543
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis OMIM:267450
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Holocarboxylase Synthetase Deficiency
Growth delay, Tachypnea, Weight loss, Ataxia, Respiratory distress, Irritability, Lethargy ORPHA:79242
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Gait ataxia, Abnormal autonomic nervous system physiology OMIM:243180
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Interhypothalamic Adhesion OMIM:618929
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Porphyria Variegata
Hypertension, Inappropriate antidiuretic hormone secretion, Respiratory paralysis, Tachycardia, A... ORPHA:79473
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Dystonia, Hypoxemia, Neonatal respiratory distress, Congenital hypothyroidism, Crackles... OMIM:610978
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Splenomegaly OMIM:602390
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Dystonia 26, Myoclonic
Anxiety, Depression OMIM:616398
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly ORPHA:664
Harderoporphyria
Hepatomegaly, Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hemolytic anemia OMIM:618892
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Wolfram Syndrome
Optic atrophy, Central apnea, Respiratory insufficiency, Diabetes insipidus, Cardiomyopathy, Hypo... ORPHA:3463
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Acute Lung Injury
Shock, Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Diffuse alveol... ORPHA:178320
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis... ORPHA:131
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Erythermalgia, Primary
Palpitations, Abnormal autonomic nervous system physiology OMIM:133020
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly ORPHA:37748
Complete Atrioventricular Septal Defect
Wheezing, Right ventricular failure, Left-to-right shunt, Crackles, Third heart sound, Abnormal E... ORPHA:1329
Ramos-Arroyo Syndrome
Aganglionic megacolon, Self-mutilation, Severe short stature, Respiratory distress, Severe failur... ORPHA:1051
Stuve-Wiedemann Syndrome 1
Respiratory insufficiency, Short stature, Apnea, Pulmonary arterial hypertension, Thin skin, Abno... OMIM:601559
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... OMIM:618641
Beta-Thalassemia
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Anemia, Cholelithiasis, Splenomegaly, Microcytic an... ORPHA:848
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Hep... OMIM:308240
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Short stature, Thyroiditis, Postnatal growth retard... OMIM:618985
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
Narcolepsy 7
Narcolepsy, Type II diabetes mellitus OMIM:614250
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... OMIM:615122
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Central Hypoventilation Syndrome, Congenital, 1
Hypoxemia, Aganglionic megacolon, Hypercapnia, Apnea, Decreased heart rate variability, Central h... OMIM:209880
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Abnormality of the diencephalon, Microcephaly, Aplasia/Hypoplasia of the corpus ... ORPHA:2570
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... OMIM:251880
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Elevated hepatic transaminase OMIM:613489
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, Auto... OMIM:169500
Gaucher Disease, Type Iii
Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:231000
Neuroleptic Malignant Syndrome
Hypertension, Hypertensive crisis, Tachycardia, Bradycardia, Pulmonary embolism, Anxiety, Oculogy... ORPHA:94093
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Apnea, Tachycardia, Episodic tachypnea, Loss of ability to walk, Emotional lab... ORPHA:79264
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Limbic Encephalitis With Nmda Receptor Antibodies
Dystonia, Abnormal sudomotor regulation, No social interaction, Orthostatic tachycardia, Neoplasm... ORPHA:217253
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:240500
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Thrombocytopenia, Hemolytic anemia, Jaun... ORPHA:108
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Adult-Onset Autosomal Dominant Leukodystrophy
Gait disturbance, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potent... ORPHA:99027
Wolman Disease
Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly, Hepatic failure ORPHA:75233
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Leishmaniasis
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Splenomegaly, A... ORPHA:507
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Tachypnea, Aortic regurgitation, Tricuspi... OMIM:616501
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Respiratory distress, Respiratory failure, Cough OMIM:263000
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... OMIM:612714
Niemann-Pick Disease Type C
Dystonia, Gait disturbance, Axial dystonia, Respiratory insufficiency, Narcolepsy, Aggressive beh... ORPHA:646
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Intrauterine growth retardation, Small for gestational age, Tachypnea, Failure to thrive, Decreas... OMIM:604320
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Mitral regurgitation, Tricuspid regurg... ORPHA:75249
African Trypanosomiasis
Abnormal prolactin level, Myocarditis, Third degree atrioventricular block, Abnormality of renin-... ORPHA:3385
Graves Disease, Susceptibility To, 1
Goiter, Weight loss, Hyperactivity, Irritability, Congestive heart failure, Graves disease OMIM:275000
Wilson Disease
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acu... ORPHA:905
Choreoacanthocytosis
Dilated cardiomyopathy, Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, An... ORPHA:2388
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Cough, Respiratory distress, Intercostal retractions, Reduced forced vital ... ORPHA:91359
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:615846
Caroli Disease
Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... ORPHA:53035
Pediatric-Onset Graves Disease
Mood swings, Hypertension, Increased circulating T4 level, Intrauterine growth retardation, Atria... ORPHA:525731
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Splenomegaly, Intermitte... OMIM:150550
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Pneumonia, Small for gestational age, Tachypnea, A... ORPHA:26793
Pitt-Hopkins Syndrome
Aggressive behavior, Gait ataxia, Hyperventilation, Intermittent hyperventilation, Abnormal auton... OMIM:610954
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation OMIM:609054
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Reduced ejection fraction, Tachypnea, Tachycardia, Heart block, Arrhythmia, Respirator... ORPHA:542323
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Erythr... ORPHA:231222
Primary Erythromelalgia
Hypothermia ORPHA:90026
Amoebiasis Due To Free-Living Amoebae
Abnormal cerebral cortex morphology, Abnormal hypothalamus morphology, Encephalomalacia, Abnormal... ORPHA:68
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Shuffling gait, Ataxia, Dysdiadochokinesis, Akinesia, Gait ata... ORPHA:247234
Acute Interstitial Pneumonia
Hypoxemia, Hypertension, Crackles, Bronchiectasis, Tachypnea, Decreased DLCO, Nonproductive cough... ORPHA:79126
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Primary Myelofibrosis
Leukocytosis, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly OMIM:609981
Pyruvate Dehydrogenase Deficiency
Dystonia, Gait disturbance, Intrauterine growth retardation, Growth delay, Tachypnea, Ataxia, Dys... ORPHA:765
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Optic atrophy, Growth delay, Abnormal autonomic nervous system physiology ORPHA:466934
Gaucher Disease, Type Ii
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Classic Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Decreased DLCO, Restrictive ventilator... OMIM:300770
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Elevated hepatic transaminas... ORPHA:158057
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... ORPHA:567983
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Hemolytic anemia, Splenomegaly OMIM:608885
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal QRS complex, Maternal diabetes, Abnormality of blood circulation, Small for g... ORPHA:860
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Decreased liver func... ORPHA:158061
Renal Nutcracker Syndrome
Syncope, Orthostatic hypotension, Weight loss, Tachycardia, Abnormal autonomic nervous system phy... ORPHA:71273
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Anterior hypopituitarism OMIM:241800
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia ORPHA:79312
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Orthostatic hypotension... ORPHA:556037
Joubert Syndrome 7
Tachypnea, Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:611560
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Con... ORPHA:454836
Transaldolase Deficiency
Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Splenomegaly, Cirrhosis, Decrease... OMIM:606003
Griscelli Syndrome
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... ORPHA:381
Propionic Acidemia
Dystonia, Short stature, Tachypnea, Failure to thrive, Cerebellar hemorrhage, Apnea, Cardiomyopat... OMIM:606054
Hemochromatosis, Type 1
Hepatomegaly, Ascites, Hepatocellular carcinoma, Cardiomegaly, Splenomegaly, Cirrhosis, Elevated ... OMIM:235200
Citrullinemia Type I
Torticollis, Tachypnea, Failure to thrive, Ataxia, Lethargy ORPHA:247525
Alacrima, Achalasia, And Mental Retardation Syndrome
Orthostatic hypotension, Gait disturbance, Abnormal autonomic nervous system physiology OMIM:615510
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... OMIM:613011
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Multiple Carboxylase Deficiency
Optic atrophy, Tachypnea, Ataxia, Respiratory distress, Lethargy ORPHA:148
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Intrauterine growth retardation,... ORPHA:2257
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Orthostatic hypotension... ORPHA:556030
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Thrombocytopenia, Sclerosing cholangitis, Hepatitis, Splenomegaly, Cir... OMIM:308230
Parkinson Disease, Late-Onset
Dystonia, Short stepped shuffling gait, Bradykinesia, Abnormal autonomic nervous system physiology OMIM:168600
Neonatal Lupus Erythematosus
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormality of th... ORPHA:398124
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia ORPHA:85212
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:619183
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Ascites, Splenomegaly ORPHA:1046
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Serotonin Syndrome
Hypertension, Tachypnea, Abnormality of the autonomic nervous system, Tachycardia, Irritability, ... ORPHA:43116
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal autonomic nervous system physiology, Limb dystonia, Akinesia OMIM:616840
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Short stature, Small for gestational age, Tachypnea, Pulmonary arterial hypertension OMIM:613320
Trisomy 20P
Gait disturbance, Abnormal autonomic nervous system physiology ORPHA:261318
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... ORPHA:100026
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... OMIM:603903
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... OMIM:210250
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Jaundice, Poikilocytos... ORPHA:288
Adult-Onset Still Disease
Leukocytosis, Hepatomegaly, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, G... ORPHA:829
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Bradykinesia, Abnormal autonomic nervous system physiology OMIM:146500
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:616683
Congenital Rubella Syndrome
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia, Jaundice ORPHA:290
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Niemann-Pick Disease, Type A
Hepatomegaly, Ascites, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Elevated circulatin... OMIM:257200
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Splenomegaly, Portal hypertension, Periportal fibr... OMIM:263200
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic failure OMIM:615630
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Pulmonary arterial hypertension, Growth delay, Lethargy OMIM:614857
Parkinsonian-Pyramidal Syndrome
Dystonia, Shuffling gait, Bradykinesia, Abnormal autonomic nervous system physiology ORPHA:171695
Autoimmune Hepatitis
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Acute hepatitis, Splenomegaly, Diffuse he... ORPHA:2137
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly OMIM:201100
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... OMIM:616100
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Intrauterine growth retardation, Failure to thrive, Hypothyroidism, Pleural effusion, Abnormal au... ORPHA:453499
Neuraminidase Deficiency
Hepatomegaly, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomegaly, Splenomegaly OMIM:256550
Double Outlet Right Ventricle
Hypoparathyroidism, Short stature, Tachypnea, Tachycardia, Pulmonic stenosis, Aplasia/Hypoplasia ... ORPHA:3426
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal autonomic nervous system physiology OMIM:243000
Ethylene Glycol Poisoning
Shock, Hypertension, Episodic respiratory distress, Prolonged QT interval, Abnormal pattern of re... ORPHA:31826
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Microcephaly ORPHA:2165
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the liver, Viral hepatitis ORPHA:91138
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Cocaine Intoxication
Wheezing, Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachy... ORPHA:90068
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Ataxia, Optic atrophy OMIM:604121
Histiocytoid Cardiomyopathy
Optic atrophy, Atrial fibrillation, Tachypnea, Failure to thrive, Atrioventricular block, Ventric... ORPHA:137675
Sézary Syndrome
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Ataxia, Long-segment ag... OMIM:609136
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 level, Hypothermia ORPHA:95717
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Cardiocranial Syndrome, Pfeiffer Type
Intrauterine growth retardation, Growth delay, Short stature, Torticollis, Episodic tachypnea ORPHA:2872
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly OMIM:616005
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Hypertrophic cardiomyopathy, Reduced ejection fraction, Tachypnea, Sudden car... OMIM:201475
Pseudo-Torch Syndrome 1
Hepatomegaly, Splenomegaly, Decreased liver function, Elevated hepatic transaminase, Thrombocytop... OMIM:251290
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Tachypnea, Apnea, Pulmonary arterial hypertension, Respiratory fai... OMIM:265120
Beta-Ketothiolase Deficiency
Hypertension, Tachypnea, Weight loss, Apathy, Cough, Ataxia, Hypotension ORPHA:134
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hepatocellular carcinoma, Hepatocellular adenoma... ORPHA:370
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired oxidative burst, Acute... OMIM:618935
Tangier Disease
Left ventricular hypertrophy, Hepatomegaly, Splenomegaly OMIM:205400
Autoimmune Hemolytic Anemia
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Extramedullary hematopoiesis, Increased mean ... ORPHA:822
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea, Ataxia, Failure to thrive OMIM:220111
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Thrombocytopenia, Elevated hepatic... OMIM:300972
Melkersson-Rosenthal Syndrome
Facial palsy, Abnormal autonomic nervous system physiology ORPHA:2483
Omenn Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... ORPHA:39041
Gaucher Disease, Type I
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia OMIM:230800
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly OMIM:252900
Cholera
Hypovolemic shock, Tachypnea, Tachycardia, Irritability, Hypotension, Hyperventilation, Aspiratio... ORPHA:173
Acute Transverse Myelitis
Gait disturbance, Hypertension, Orthostatic hypotension, Autonomic bladder dysfunction, Subarachn... ORPHA:139417
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Tachypnea, Parasept... OMIM:610921
Oculocerebrodental Syndrome
Focal white matter lesions, Dysplastic corpus callosum, Abnormality of thalamus morphology ORPHA:557003
Neuroferritinopathy
Caudate atrophy, Abnormal caudate nucleus morphology, Iron accumulation in globus pallidus, Abnor... ORPHA:157846
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Familial Acute Necrotizing Encephalopathy
Abnormal putamen morphology, Cerebral edema, Abnormality of thalamus morphology ORPHA:88619
Gaucher Disease Type 1
Hepatomegaly, Ascites, Leukopenia, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hy... ORPHA:77259
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Tachypnea, Weight loss, Apnea, Apathy, Ataxia, Cardiac arrest, Hypotensio... ORPHA:20
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Pituitary hypoth... ORPHA:95513
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Coach Syndrome 1
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cirrhosis, Intrahepatic bile duct dilatation, Eleva... OMIM:216360
Pyruvate Carboxylase Deficiency
Dystonia, Growth delay, Abnormal pattern of respiration, Tachypnea, Failure to thrive, Apathy, Po... ORPHA:3008
Triosephosphate Isomerase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... OMIM:615512
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90033
Dominant Beta-Thalassemia
Hepatic fibrosis, Hypochromic microcytic anemia, Hepatocellular carcinoma, Splenomegaly, Persiste... ORPHA:231226
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma OMIM:277170
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Intrauterine growth retardation, Systolic heart murmur, Tachypnea, Tricuspid regurgita... ORPHA:555874
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Tachycardia, Episodic tachypnea, Respiratory distress, Irritability, ... ORPHA:348
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Cholestatic liver disease, Decr... ORPHA:540
Niemann-Pick Disease, Type C1
Fetal ascites, Hepatomegaly, Bone-marrow foam cells, Fatal liver failure in infancy, Splenomegaly... OMIM:257220
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Holocarboxylase Synthetase Deficiency
Tachypnea, Irritability, Hyperventilation, Lethargy OMIM:253270
Beta-Thalassemia Major
Hepatomegaly, Anisopoikilocytosis, Hepatic fibrosis, Hypochromic microcytic anemia, Hepatocellula... ORPHA:231214
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoi... OMIM:259720
Felty Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellu... ORPHA:47612
Stüve-Wiedemann Syndrome
Ectopic thyroid, Intrauterine growth retardation, Short stature, Apnea, Respiratory distress, Ast... ORPHA:3206
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic anemia ORPHA:169090
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hepatocellular adenoma, Anemia, Splenomegaly, Ci... ORPHA:264580
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Prolidase Deficiency
Hepatomegaly, Anemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:170100
Chronic Granulomatous Disease
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Liver abscess ORPHA:379
Adenohypophysitis
Abnormal size of pituitary gland, Pituitary hypothyroidism, Secondary growth hormone deficiency, ... ORPHA:95512
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... OMIM:610199
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Abnormal autonomic nervous system physiology ORPHA:478029
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Splenomegaly ORPHA:834
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3386
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Respiratory insufficiency, Tachypnea, Failure to thrive, Irritability, Atelectasis OMIM:618278
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Joubert Syndrome 3
Ataxia, Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:608629
Aortic Arch Interruption
Shock, Hypertension, Systolic heart murmur, Tachypnea, Aortic regurgitation, Tricuspid regurgitat... ORPHA:2299
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Tachypnea, Hypercapnia, Supraventricular tachycardia, Ventricu... ORPHA:423
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly OMIM:607015
Essential Thrombocythemia
Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Cardiomegaly, Splenomegaly, Cirrhosis... ORPHA:465508
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Episodic tachypnea OMIM:615160
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Pancreatitis, Splenomegaly ORPHA:90970
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Tick-Borne Encephalitis
Abnormal autonomic nervous system physiology, Abnormal cranial nerve morphology, Facial palsy, Ab... ORPHA:297
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Tachypnea, Apnea, Abnormality of the hypothalamus-pituitary axis, Ataxia ORPHA:2318
Primary Sclerosing Cholangitis
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... ORPHA:171
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Lymphopenia, Elevated hepatic transaminase, ... OMIM:617591
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Ataxia, Optic atrophy ORPHA:314404
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, ... ORPHA:60025