Gene Summary

Name:
receptor tyrosine kinase-like orphan receptor 1
Synonyms:
Ntrkr1,  2810404D04Rik

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
abnormal uterus morphology Ror1em1(IMPC)Ccpcz HET Early adult 0.00
enlarged thymus Ror1em1(IMPC)Ccpcz HET Early adult 0.00
enlarged spleen Ror1em1(IMPC)Ccpcz HET Early adult 0.00
abnormal spleen morphology Ror1em1(IMPC)Ccpcz HET Early adult 0.00
hydrometra Ror1em1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Ror1em1(IMPC)Ccpcz HOM   Early adult 0.00
increased prepulse inhibition Ror1em1(IMPC)Ccpcz HET Early adult 6.19×10-05
abnormal thymus morphology Ror1em1(IMPC)Ccpcz HET Early adult 0.00
small kidney Ror1em1(IMPC)Ccpcz HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

Human diseases caused by Ror1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ror1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 108
Congenital sensorineural hearing impairment OMIM:617654

The table below shows human diseases predicted to be associated to Ror1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Desquamative interstitial pneumonitis, Cyanosis, Recurrent upper respirator... OMIM:263000
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... OMIM:265120
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... ORPHA:70589
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Pneumonia, Restrictive ... OMIM:610910
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy, Cyanotic episode OMIM:610992
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema OMIM:130700
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Immunodeficiency 95
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... OMIM:619773
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Asbestos Intoxication
Oxygen desaturation on exertion, Interlobular septal thickening, Lung adenocarcinoma, Reduced vit... ORPHA:2302
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Bronc... ORPHA:1303
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Reduced forced vital capacity, Cough, Intercostal retractions, Ta... ORPHA:91359
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Cough ORPHA:64741
Laryngotracheoesophageal Cleft
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor, Recurrent respirato... ORPHA:2004
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Chronic bronchitis, Nonproducti... ORPHA:79127
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Restri... ORPHA:1302
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Cough, Abnormal lung morphology, Pleural effusi... ORPHA:50251
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Neonatal respiratory distress, Dyspnea OMIM:267450
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Acute infectious pneumonia, Respiratory fai... ORPHA:264675
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Cyanosis, Tachypnea, Pneumonia, Respiratory tract infection, Hypoxemia, Respirat... ORPHA:70587
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Interstitial Lung Disease 2
Alveolar cell carcinoma, Usual interstitial pneumonia, Decreased DLCO, Cough, Exertional dyspnea,... OMIM:178500
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Recurrent u... ORPHA:60032
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Acute Interstitial Pneumonia
Interlobular septal thickening, Hypoxemia, Nodular pattern on pulmonary HRCT, Nonproductive cough... ORPHA:79126
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... OMIM:619751
Laryngeal Web, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Stridor OMIM:150360
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infections, Bronchiec... OMIM:619466
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... ORPHA:2414
Succinic Acidemia
Respiratory distress OMIM:600335
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... OMIM:619611
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Decreased DLCO... ORPHA:747
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Bardet-Biedl Syndrome 16
Respiratory distress, Bronchiolitis, Recurrent respiratory infections OMIM:615993
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Wheezing, Cough, Bronchie... OMIM:613490
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Primary Pulmonary Hypoplasia
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Pulmonary hypoplasia, Abnormal breath sound, Re... ORPHA:2257
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Perching Syndrome
Respiratory distress OMIM:617055
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... OMIM:615234
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... ORPHA:922
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Recurrent respiratory infections, Cough ORPHA:77260
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Cyanosis, Elevated pulmon... ORPHA:199241
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... OMIM:234810
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... OMIM:614370
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Acute Lung Injury
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Pneumonia, Hypoxemia... ORPHA:178320
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... OMIM:616414
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Trimethylaminuria
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly OMIM:602079
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Sarcoidosis, Susceptibility To, 2
Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Abnormal pulmonary inters... OMIM:612387
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... OMIM:303110
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... ORPHA:2032
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... OMIM:273250
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment OMIM:125250
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction ORPHA:100057
Monosodium Glutamate Sensitivity
Dyspnea, Flushing OMIM:231630
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Pneumonia, Hypoxemia ORPHA:238459
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Allergic Bronchopulmonary Aspergillosis
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension ORPHA:1164
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Cystic pattern on pulmo... OMIM:610978
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Intraalveolar phospholipid accumulation, Reduced ... OMIM:300770
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Respiratory insufficiency, Death in childhood, Death in adolescence, Intraalveolar phospholipid a... OMIM:618042
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Breath-Holding Spells
Cyanosis OMIM:607578
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormal penis morphology, Abnormality of the scrotum, Unilateral cryptorchidis... ORPHA:457083
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice OMIM:230350
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Alpha-1-Antitrypsin Deficiency
Jaundice, Emphysema ORPHA:60
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... ORPHA:100024
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... ORPHA:70588
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Bilateral lung agenesis, Neonatal death OMIM:601612
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect OMIM:614399
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia ORPHA:464453
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... ORPHA:98913
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Hypogonadism, Anemia OMIM:613313
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Interlobular septal thickening, Subpleural interstitial thickeni... ORPHA:60025
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Ret... ORPHA:133
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema, Emphysema OMIM:618307
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Dec... OMIM:614837
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231169
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Micropenis, Hypergonadotropic hypogonadism, Hypospad... ORPHA:755
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria OMIM:105200
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Cholestasis, Proteinuria, Jaundice OMIM:620010
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Tracheomalacia OMIM:245650
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas... OMIM:266810
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the ureter, Anemia, Ascites ORPHA:1046
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv... ORPHA:454836
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent re... OMIM:606763
Anaplastic Thyroid Carcinoma
Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dyspnea, Stridor ORPHA:142
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Splenomegaly OMIM:608540
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Cough ORPHA:99825
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Pulmonary Arteriovenous Malformation
Hemothorax, Pleural empyema, Cyanosis, Pulmonary hemorrhage, Cough, Hypoxemia, Dyspnea, Telangiec... ORPHA:2038
Malaria
Respiratory distress ORPHA:673
Pneumocystosis
Hypoxemia, Multiple pulmonary cysts, Nonproductive cough, Respiratory insufficiency, Interstitial... ORPHA:723
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... OMIM:201050
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Cli... OMIM:612964
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection OMIM:620011
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Hydrocephalus, Abnormal auditory evoked potentials OMIM:109120
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Crackles, Reticular pattern on pulmonary HRCT, Cough, Decreased DLCO, Usual interstitial pneumoni... OMIM:614742
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis OMIM:604571
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise... ORPHA:79301
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... ORPHA:168563
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Pendred Syndrome
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of the cochle... ORPHA:705
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia OMIM:607616
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acut... OMIM:619151
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Cyanosis, Paroxysmal dyspnea, Respiratory failure ORPHA:444013
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD... OMIM:615559
Follicular Lymphoma
Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... OMIM:616860
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Jaundice OMIM:619658
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Complete Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... ORPHA:99429
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Crackles, Abnormal pleura morphology, Cough, Abnormal breath sound, Restrictive ventilatory defec... ORPHA:210136
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... ORPHA:98914
Harderoporphyria
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Increased urinary porphobilinogen, Hemol... OMIM:618892
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Micropenis, Hypospadias, Vaginal neoplasm, Abnormality of the uterus, A... ORPHA:1916
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Aplasia of the ovary, Blind vagina, Micropenis, Bifid scrotum, Hypospad... ORPHA:90797
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, H... ORPHA:848
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Immunodeficiency 32B
Splenomegaly OMIM:226990
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Aplasia/Hypoplasia of th... OMIM:158330
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration ORPHA:95433
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic lung disease, Abnormal... ORPHA:217563
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... OMIM:300853
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice OMIM:214900
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular acidosis, ... OMIM:146255
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stridor, Rec... OMIM:211530
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Portal fibrosis, Jaundice, Acholic stools OMIM:619868
Bor Syndrome
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... ORPHA:107
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephropathy, Abnormality of the uterus, Re... OMIM:194072
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Ovarian Dysgenesis 2
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary OMIM:300510
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal hypertension, Portal... OMIM:616278
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... OMIM:614841
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Prolonged n... OMIM:616828
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Buerger Disease
Acrocyanosis ORPHA:36258
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Crouzon Syndrome
Conductive hearing impairment, Hydrocephalus, Optic atrophy, Narrow internal auditory canal, Hear... ORPHA:207
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Cyanosis, Respiratory failure requiring assisted ventilation, ... ORPHA:555874
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Abnormality of the lymph nodes, Extramedullary hematopoiesis, Splenom... OMIM:612840
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials, Cervica... OMIM:619260
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Renal hypoplasi... ORPHA:2470
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia OMIM:300635
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:612126
Cold Agglutinin Disease
Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Abnormal renal physiology, Prostate cancer, Hepatosp... ORPHA:158057
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:75234
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery pressure, Wheezing, ... ORPHA:1329
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:612526
Premature Ovarian Failure 6
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:612310
Tetrasomy 5P
Respiratory distress, Cyanosis, Pulmonary hypoplasia, Pulmonary arterial hypertension, Recurrent ... ORPHA:3309
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Premature Ovarian Failure 18
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary... OMIM:619203
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Jaundice, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile... OMIM:617394
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Bile duct proliferation, Portal ... OMIM:602347
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary... OMIM:619665
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy OMIM:300219
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypnea, Pulmonary artery... ORPHA:99106
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Anomalous origin of left pulmonary artery from ascending... ORPHA:141127
Lymphatic Malformation 12
Recurrent upper and lower respiratory tract infections, Pleural thickening, Death in adolescence,... OMIM:620014
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Low-set, posteriorly rotated ears, Abnormal cranial nerve morphology, Narrow i... ORPHA:990
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Micropenis,... OMIM:613673
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:240500
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Adams-Oliver Syndrome 6
Renal hypoplasia, Hepatic fibrosis, Portal hypertension, Splenomegaly OMIM:616589
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Branchiootorenal Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... OMIM:113650
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Sepsis In Premature Infants
Petechiae, Cyanosis, Abnormal respiratory system physiology, Abnormal mucociliary clearance, Purp... ORPHA:90051
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia ORPHA:158029
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pulmonary hypoplasia, Jaundice, Neonatal death OMIM:231680
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Triosephosphate Isomerase Deficiency
Respiratory distress, Jaundice, Respiratory insufficiency, Death in adolescence, Death in infancy... OMIM:615512
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Uterus didelphys, Septate vagina, Polycystic kidne... ORPHA:2237
Odontochondrodysplasia 1
Respiratory distress, Pulmonary hypoplasia, Death in infancy, Recurrent respiratory infections OMIM:184260
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hypoparathyro... ORPHA:231222
Multiple Carboxylase Deficiency
Respiratory distress, Tachypnea ORPHA:148
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Unilateral renal agenesis, Ectopic kidney, Azoospermia OMIM:601076
Gaucher Disease, Type Iii
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... OMIM:150550
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Pulmonary Hypertension, Primary, 1
Pulmonary aterial intimal fibrosis, Cough, Pulmonary arterial medial hypertrophy, Dyspnea, Telang... OMIM:178600
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Cyanosis, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary ar... ORPHA:99104
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Anomalous pulmonary venous return, Tachypnea ORPHA:860
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... OMIM:266200
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... OMIM:235200
Immunodeficiency 54
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural ... OMIM:609981
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Increased red cell hemolysis by shear... OMIM:194380
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema OMIM:617300
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Neutropenia in presence of anti-neutropil antibodies, Nephritis, Coombs-posit... OMIM:603909
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating gonadotropin level, Precocious puberty in females, Adrenocorticotropic horm... ORPHA:90793
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... ORPHA:64743
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:617895
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia OMIM:608799
Absence Of The Pulmonary Artery
Pulmonary edema, Nonproductive cough, Cyanosis, Orthopnea, Pulmonary hypoplasia, Recurrent pneumo... ORPHA:980
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly, Renal insufficiency, Neutropenia, Anemia, Thrombocytopenia ORPHA:79312
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis, Pulmonary artery atresi... ORPHA:99050
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Atrial Septal Defect, Ostium Secundum Type
Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... ORPHA:99103
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema, Decreased DLCO OMIM:618913
Stt3B-Cdg
Respiratory distress ORPHA:370924
Criss-Cross Heart
Respiratory insufficiency, Cyanosis ORPHA:1461
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Episodic hypoventilation, Death in infancy, Recurrent respiratory ... OMIM:301790
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Vaginal Atresia
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Pelvic mass, Cervicitis, Transverse vagin... ORPHA:65681
Lumbar Syndrome
Micropenis, Bifid scrotum, Hypospadias, Bifid uterus, Bladder exstrophy, Ambiguous genitalia, Cry... ORPHA:83628
Hurler-Scheie Syndrome
Abnormality of the tonsils, Hepatomegaly, Splenomegaly ORPHA:93476
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Pancyto... ORPHA:507
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice ORPHA:79477
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... OMIM:256550
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Prolonged neonatal jaundice ORPHA:226313
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulminant hepatitis, Ap... OMIM:308240
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Hypoplasia of the vagina, Horseshoe kidney, Ectopic kidney, Aplasia of... ORPHA:3109
Transaldolase Deficiency
Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Hepatic fibros... OMIM:606003
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... ORPHA:3226
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Hepatosplenomegaly, Abnormal ... ORPHA:1655
Goodpasture Syndrome
Increased DLCO, Nodular pattern on pulmonary HRCT, Cyanosis, Crackles, Pulmonary hemorrhage, Reti... OMIM:233450
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Double Outlet Right Ventricle
Cyanosis, Pulmonary artery atresia, Tachypnea ORPHA:3426
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Nasolacrimal Duct Cyst
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea... ORPHA:141083
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Bifid scrotum, Micropenis, Hypoplasia of the vagina, Ovot... OMIM:278850
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... OMIM:619824
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly ORPHA:163596
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Asplenia, Pancreatic fibrosis, Hyperechogenic pancreas, Cirrhosis, Ma... OMIM:208540
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation ORPHA:314655
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatitis, Intrahepatic cholestasis, Jaundice, Acholic stools OMIM:613812
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Synaptic Congenital Myasthenic Syndromes