Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sodium channel, voltage-gated, type II, alpha
Synonyms:
Scn2a1,  A230052E19Rik,  Nav1.2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Scn2a 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 Scn2a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Seizures, Benign Familial Infantile, 3
Apnea, Normal interictal EEG, Cyanosis OMIM:607745
Benign Familial Infantile Epilepsy
Apnea, Normal interictal EEG, Interictal epileptiform activity, Cyanosis ORPHA:306
Dravet Syndrome
EEG with focal epileptiform discharges, EEG with generalized epileptiform discharges, Cyanotic ep... ORPHA:33069
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Anxiety, EEG with spike-wave complexes ORPHA:36387
Early Infantile Epileptic Encephalopathy
EEG abnormality, Self-injurious behavior, EEG with spike-wave complexes, Hyperactivity, EEG with ... ORPHA:1934
Infantile Spasms Syndrome
Hypsarrhythmia ORPHA:3451
Episodic Ataxia, Type 9
Episodic ataxia OMIM:618924
Developmental And Epileptic Encephalopathy 11
OMIM:613721

The table below shows human diseases predicted to be associated to Scn2a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Methemoglobinemia, Beta Type
Methemoglobinemia, Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia, Cyanosis OMIM:617973
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Abnormal social behavior ORPHA:436151
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Shyness, Gait ataxia OMIM:618221
Seizures, Benign Familial Infantile, 3
Apnea, Normal interictal EEG, Cyanosis OMIM:607745
Seizures, Benign Familial Infantile, 1
Apnea, Normal interictal EEG, Cyanosis OMIM:601764
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Cyanosis, Reticulocytosis, Jaundice OMIM:613977
Ravine Syndrome
Failure to thrive, Apnea, Decreased body weight, Atrophy/Degeneration affecting the brainstem, Ab... ORPHA:99852
Pyknoachondrogenesis
Stillbirth OMIM:265880
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Pulmonary Blastoma
Dyspnea, Weight loss, Recurrent pneumonia, Cough ORPHA:64741
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Cryptogenic Organizing Pneumonia
Respiratory distress, Neutrophilia, Leukocytosis, Nonproductive cough, Cyanosis, Crackles, Wheezi... ORPHA:1302
Autism
Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... OMIM:209850
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior OMIM:300496
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... OMIM:608636
Cholesterol Pneumonia
Cyanosis, Pneumonia, Cough, Tachypnea OMIM:215030
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Failure to thrive, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Idiopathic Achalasia
Wheezing, Cough, Recurrent aspiration pneumonia, Dysphagia, Weight loss ORPHA:930
Chronic Pneumonitis Of Infancy
Respiratory distress, Failure to thrive, Cyanosis, Tachypnea, Cough, Intercostal retractions, Red... ORPHA:91359
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Cyanosis, Cough, Aspiration, Neonatal respiratory distre... ORPHA:2004
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Developmental And Epileptic Encephalopathy 15
Inability to walk, Poor eye contact, Irritability, Hypsarrhythmia OMIM:615006
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Cyanosis ORPHA:91130
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Small for gestational age, Abnormal respiratory system physiol... ORPHA:70589
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Exertional dyspnea, Cyanosis, Polycythemia OMIM:250800
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Dyspnea, Anemia, Thrombocytopenia ORPHA:517
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode OMIM:610992
Breath-Holding Spells
Cyanosis, Iron deficiency anemia OMIM:607578
Carcinoma Of Esophagus
Dysphagia, Obesity, Weight loss, Cough ORPHA:70482
Pleural Mesothelioma
Respiratory distress, Cough, Pleural effusion, Dysphagia, Abnormal respiratory system physiology,... ORPHA:50251
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Alpha-Thalassemia-Myelodysplastic Syndrome
Bruising susceptibility, Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Dyspnea, T... ORPHA:231401
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, EEG abnormality, Abnormal erythrocyte morphology ORPHA:71277
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Recurrent Respiratory Papillomatosis
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... ORPHA:60032
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis, Hypoventilation OMIM:257500
Tuberculosis
Weight loss, Cough ORPHA:3389
Perching Syndrome
Dysphagia, Respiratory distress OMIM:617055
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Respiratory failure requir... ORPHA:264675
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Hereditary Methemoglobinemia
Methemoglobinemia, Exertional dyspnea, Cyanosis, Small for gestational age ORPHA:621
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Pulmonary arterial hypertension, Dysphagia, Thrombocytopeni... OMIM:619751
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Failure to thrive, Respiratory insufficiency, Abnormal motor nerve conducti... OMIM:614399
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Unilateral Focal Polymicrogyria
EEG with frontal focal spikes, EEG with parietal focal spikes, Abnormal nonverbal communicative b... ORPHA:268947
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia, Cough, Dyspnea, Exertional dyspnea, Epistaxis ORPHA:90042
Benign Familial Infantile Epilepsy
Apnea, Normal interictal EEG, Interictal epileptiform activity, Cyanosis ORPHA:306
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis, Stridor OMIM:150260
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Jaundice, Hypersp... ORPHA:846
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Nonproductive cough, Decre... ORPHA:79127
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:254210
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Giant platelets, Neutropenia, Hypoxemia, Pneumonia... ORPHA:238459
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis OMIM:302000
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Poor eye contact, Athetosis, Gait disturbance, Hypsarrhythmia OMIM:618141
Surfactant Metabolism Dysfunction, Pulmonary, 1
Failure to thrive, Apnea, Cyanosis, Neonatal death, Tachypnea, Neonatal respiratory distress, Dys... OMIM:265120
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Lymphopenia, Respiratory failure OMIM:619773
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive OMIM:615595
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Splenomegaly, Cyanosis, Cough, Pleural effus... ORPHA:2414
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Hypsarrhythmia OMIM:616341
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Acquired Methemoglobinemia
Methemoglobinemia, Respiratory distress, Cyanosis, Hypoxemia, Dyspnea ORPHA:464453
Early-Onset Schizophrenia
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, No ... ORPHA:96369
Gaucher Disease Type 2
Respiratory distress, Splenomegaly, Cough, Dysphagia, Abnormal pattern of respiration ORPHA:77260
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:605809
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Failure to thrive, Nonspecific interstitial pneumonia, Cyanosis, Respirator... OMIM:610913
Laryngeal Neuroendocrine Tumor
Exertional dyspnea, Weight loss, Oral-pharyngeal dysphagia ORPHA:100083
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Nonproductive cough, Cyanosis, Reduced f... ORPHA:2302
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Failure to thrive, Apnea, Nonspecific interstitial pneumonia, Cyanosis, Neo... OMIM:610921
Pneumocystosis
Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infectious pneumo... ORPHA:723
Benign Familial Neonatal Epilepsy
Increased theta frequency activity in EEG, Circumoral cyanosis, Apnea, Focal EEG discharges with ... ORPHA:1949
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Abnormal brainstem MRI signal intensity, Cyanosis, Stridor, Paroxysmal dyspnea... ORPHA:444013
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior OMIM:300495
Allergic Bronchopulmonary Aspergillosis
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... ORPHA:1164
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Cough, Decreased DLCO, Restrictive ventilatory defect, Hypoxemia, Dyspnea, We... ORPHA:747
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Decreased DLCO, Cough, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Dyspnea OMIM:610910
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Leukocytosis, Nonproductive cough, Generalized abnormality of skin, Crackles, Wheezing, H... ORPHA:2902
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Primary Pulmonary Hypoplasia
Failure to thrive, Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restr... ORPHA:2257
Diffuse Alveolar Hemorrhage
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Leukocytosis, Anemia, Respirat... ORPHA:90060
Malaria
Respiratory distress, Anemia, Thrombocytopenia ORPHA:673
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... ORPHA:1303
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight, Respiratory insufficiency due to muscle weakness OMIM:300580
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Productive coug... ORPHA:60033
Dopa-Responsive Dystonia
Agoraphobia, Inability to walk, Abnormal social behavior, Depression, Anxiety, Panic attack, Fati... ORPHA:255
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Dysphagia, Ventilator depen... ORPHA:254875
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity OMIM:615993
Chronic Hiccup
Weight loss, Abnormal eating behavior ORPHA:396
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Leukocytosis, Nonproductive cough, Pleural empyema, Leukopeni... ORPHA:36238
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Weight loss, Cachexia OMIM:612075
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal social behavior, Anxiety, Aggressive behavior ORPHA:101039
Acute Interstitial Pneumonia
Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Tachypnea, Decreased DLCO, Pleural effusion, ... ORPHA:79126
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Abn... ORPHA:133
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Isaacs Syndrome
Weight loss, EEG abnormality ORPHA:84142
Anaplastic Thyroid Carcinoma
Respiratory distress, Cough, Upper airway obstruction, Dysphagia, Dyspnea, Weight loss, Stridor ORPHA:142
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Focal EE... ORPHA:3077
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Hodgkin Lymphoma
Dyspnea, Weight loss, Cough, Splenomegaly ORPHA:98293
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Abnormal brainstem morphology ORPHA:2382
Ethylmalonic Encephalopathy
Failure to thrive, Petechiae, Acrocyanosis, Abnormal brainstem MRI signal intensity ORPHA:51188
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Cyanosis OMIM:250790
Galactose Epimerase Deficiency
Weight loss, Jaundice, Splenomegaly ORPHA:79238
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Respiratory insufficiency, Abnormal brainstem MRI signal intensity ORPHA:263410
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... ORPHA:98913
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Anxiety, Poor eye contact, Abnormal social behavior ORPHA:444002
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Succinic Acidemia
Respiratory distress OMIM:600335
Sepsis In Premature Infants
Decreased body weight, Petechiae, Leukocytosis, Splenomegaly, Small for gestational age, Cyanosis... ORPHA:90051
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Respiratory insufficiency, Microcytic anemia, Anemia, Thromboc... ORPHA:848
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Failure to thrive ORPHA:26792
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EEG with polyspike wave c... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EEG with polyspike wave c... ORPHA:98914
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Failure to thrive, EEG abnormality, Splenomegaly, Pontocerebellar atrophy, ... OMIM:608799
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Decreased nerve conduction velocity OMIM:252320
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Triosephosphate Isomerase Deficiency
Respiratory distress, Failure to thrive, Splenomegaly, Respiratory insufficiency, Normocytic anem... OMIM:615512
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Eosinophilic Fasciitis
Eosinophilia, Weight loss, Acrocyanosis, Abnormal eosinophil morphology ORPHA:3165
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Hypsarrhythmia, Multifocal epileptiform discharges, EEG with general... ORPHA:79097
Arnold-Chiari Malformation Type Ii
Apnea, Aqueductal stenosis, Cyanosis, Abnormal medulla oblongata morphology, Inspiratory stridor,... ORPHA:1136
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:79312
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Weight loss, Abnor... OMIM:209950
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Avian Influenza
Respiratory distress, Lymphopenia, Nonproductive cough, Leukopenia, Tachypnea, Cough, Pneumothora... ORPHA:454836
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis OMIM:619466
Childhood Absence Epilepsy
Abnormal social behavior, Depression, Anxiety, Low self esteem, EEG with spike-wave complexes (2.... ORPHA:64280
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction ORPHA:100057
Thyroid Lymphoma
Respiratory distress, Upper airway obstruction, Dysphagia, Dyspnea, Stridor ORPHA:97285
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Meconium Aspiration Syndrome
Respiratory distress, Aspiration pneumonia, Wheezing, Pneumothorax, Hypoxemia, Neonatal asphyxia,... ORPHA:70588
Pulmonary Arteriovenous Malformation
Hemothorax, Pleural empyema, Cyanosis, Iron deficiency anemia, Cough, Hypoxemia, Dyspnea, Telangi... ORPHA:2038
Oculopharyngodistal Myopathy
Impaired oropharyngeal swallow response, Recurrent aspiration pneumonia, Restrictive ventilatory ... ORPHA:98897
Congenital Tracheomalacia
Failure to thrive, Apnea, Tracheomalacia, Decreased peak expiratory flow, Cyanosis, Respiratory i... ORPHA:95430
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology, Dysphagia, Abnormali... ORPHA:98755
Stt3B-Cdg
Respiratory distress, Failure to thrive, Thrombocytopenia ORPHA:370924
Joubert Syndrome 7
Episodic tachypnea, Tachypnea, Central apnea, Neonatal breathing dysregulation, Molar tooth sign ... OMIM:611560
Reticular Dysgenesis
Failure to thrive, Leukopenia, Abnormality of neutrophils, Weight loss, Anemia ORPHA:33355
Mu-Heavy Chain Disease
Anemia, Weight loss, Abnormal B cell count, Splenomegaly ORPHA:100024
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Thrombocytopenia OMIM:615597
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, EEG abnormality OMIM:261680
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... OMIM:608049
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia ORPHA:139436
Acute Promyelocytic Leukemia
Petechiae, Leukocytosis, Bruising susceptibility, Leukopenia, Pancytopenia, Weight loss, Purpura,... ORPHA:520
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Episodic tachypnea, Apneic episodes in infancy, Abnormal brainstem morphology ORPHA:163961
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Pulmonary Capillary Hemangiomatosis
Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effusion, Hypox... ORPHA:199241
Hsd10 Disease
Gait disturbance, Ataxia, Choreoathetosis, Abnormal social behavior ORPHA:391417
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology ORPHA:1532
Tricuspid Atresia
Cyanosis ORPHA:1209
Holocarboxylase Synthetase Deficiency
Respiratory distress, Weight loss, Thrombocytopenia, Tachypnea ORPHA:79242
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Tracheomalacia, Persistence of hemoglobin F... OMIM:612561
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Respiratory distress, Tachypnea ORPHA:45452
Familial Nasal Acilia
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea ORPHA:922
Buerger Disease
Acrocyanosis ORPHA:36258
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Oxygen desaturation on exertion, Respiratory distress, Asthma, Crackles, Tachypnea, Wheezing, Cou... OMIM:610978
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Nonproductive cough, Cyanosis, Respiratory insufficiency, Tachyp... ORPHA:60025
Chiari Malformation Type Ii
Dysphagia, Cyanosis, Inspiratory stridor OMIM:207950
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... ORPHA:35858
Huntington Disease-Like 2
Weight loss ORPHA:98934
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Dysphagia, Weight loss ORPHA:2198
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress OMIM:604377
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Failure to thrive, Abnormal brainstem morphology ORPHA:255182
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Oromandibular Dystonia
Dysphagia, Weight loss, Respiratory distress ORPHA:93958
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Weight loss, Exertiona... ORPHA:514
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... OMIM:618849
Eosinophilic Gastroenteritis
Asthma, Leukocytosis, Eosinophilia, Allergic rhinitis, Weight loss, Dysphagia, Anemia ORPHA:2070
Joubert Syndrome 33
Apnea, Molar tooth sign on MRI OMIM:617767
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Respiratory distress ORPHA:240103
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Dravet Syndrome
EEG with focal epileptiform discharges, EEG with generalized epileptiform discharges, Cyanotic ep... ORPHA:33069
Rhabdoid Tumor
Weight loss, Anemia, Thrombocytopenia, Respiratory insufficiency ORPHA:69077
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, EEG with focal sharp waves, Failure to thrive in infancy, EEG with polyspike wa... ORPHA:284417
Tularemia
Respiratory distress, Leukocytosis, Cough, Pneumonia, Pleural effusion, Anemia, Thrombocytopenia ORPHA:3392
Shwachman-Diamond Syndrome 1
Respiratory distress, Failure to thrive, Small for gestational age, Persistence of hemoglobin F, ... OMIM:260400
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive, EEG with focal epileptiform discharges, Interictal EEG a... ORPHA:544503
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, Abnormal neutro... ORPHA:3226
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Failure to thrive, Microcytic anemia, Bruising susceptibility ORPHA:98791
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age OMIM:616733
Lymphoid Interstitial Pneumonia
Failure to thrive, Pulmonary venous hypertension, Crackles, Wheezing, Decreased DLCO, Cough, Rest... ORPHA:79128
Primary Myelofibrosis
Petechiae, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly... ORPHA:824
Leishmaniasis
Rhinitis, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Weight loss, Pancytopenia, An... ORPHA:507
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Schistocytosis, Prolonged neonatal jaundice, Microangiopathic hemolytic ane... OMIM:274150
Complete Atrioventricular Septal Defect
Failure to thrive, Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery p... ORPHA:1329
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Failure to thrive OMIM:618426
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Cyanosis, Respiratory failure requiring assisted ventilation, Tachypne... ORPHA:555874
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Congenitally Uncorrected Transposition Of The Great Arteries
Failure to thrive, Small for gestational age, Cyanosis, Tachypnea, Hypoxemia ORPHA:860
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Thymoma
Aplastic anemia, Cough, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Dyspnea, Weight l... ORPHA:99867
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Decreased body weight, Petechiae, Splenomegaly, Hepatosplenomegaly, ... OMIM:608013
Achondroplasia
Upper airway obstruction, Brain stem compression OMIM:100800
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Failure to thrive, Apnea, Central hypoventilation, Abnormal brainstem morph... ORPHA:70474
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Splenomegaly ORPHA:86893
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Poor eye contact, Hyperactivity, Depression, Anxiety, Attention deficit ... ORPHA:449291
Aggressive Systemic Mastocytosis
Urticaria, Neutropenia, Abnormal mast cell morphology, Flushing, Leukocytosis, Hepatosplenomegaly... ORPHA:98850
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory insufficiency, Dysphagia, Dyspnea, Nocturnal hypoventilation, S... OMIM:211530
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Myasthenia Gravis
Hemolytic anemia, Pure red cell aplasia, Dysphagia, Dyspnea, Acrocyanosis ORPHA:589
Thymic Carcinoma
Dyspnea, Weight loss, Cough ORPHA:99868
Encephalopathy, Ethylmalonic
Failure to thrive, Petechiae, Acrocyanosis OMIM:602473
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive ORPHA:261304
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased sensory nerve conduction velocity, Anemia, Cachexia, Decreased motor nerve conduction v... ORPHA:298
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Primary Dystonia, Dyt4 Type
Dysphagia, Respiratory distress, Eunuchoid habitus ORPHA:98805
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Respiratory distress, Hypoplastic spleen ORPHA:89844
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Erythrokeratodermia Variabilis
Weight loss, Cutaneous photosensitivity, Erythema ORPHA:317
Follicular Lymphoma
Weight loss, Pleural effusion, Splenomegaly ORPHA:545
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Hypoglossia With Situs Inversus
Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia OMIM:612776
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Urticaria, Sinusitis, Cutis marmorata, Eosinophilia, Respiratory insufficiency, Cough, Pu... ORPHA:183
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress OMIM:615042
Riboflavin Transporter Deficiency
Dysphagia, Cachexia, Respiratory insufficiency, Sleep apnea ORPHA:97229
Bronchial Neuroendocrine Tumor
Asthma, Nonproductive cough, Bronchospasm, Wheezing, Facial telangiectasia, Dermatological manife... ORPHA:97287
Tetrasomy 5P
Respiratory distress, Failure to thrive, Cyanosis, Pulmonary arterial hypertension ORPHA:3309
Wilson Disease
Failure to thrive, Bruising susceptibility, Splenomegaly, Weight loss, Increased body weight, Ane... ORPHA:905
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Failure to thrive, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:251110
X-Linked Centronuclear Myopathy
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation ORPHA:596
Mast Cell Sarcoma
Weight loss, Mastocytosis, Splenomegaly ORPHA:66661
Central Diabetes Insipidus
Failure to thrive, Polydipsia, Weight loss ORPHA:178029
Perry Syndrome
Central hypoventilation, Weight loss ORPHA:178509
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Anemia, Weight loss, Respiratory insufficiency ORPHA:1842
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Mulibrey Nanism
Cachexia ORPHA:2576
Congenital Fibrinogen Deficiency
Bruising susceptibility, Cyanosis, Subcutaneous hemorrhage, Splenic rupture ORPHA:335
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Oral aversion, Chroni... ORPHA:1199
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Paradoxical respiration OMIM:620011
Takayasu Arteritis
Abnormal pattern of respiration, Anemia, Weight loss, Pulmonary arterial hypertension ORPHA:3287
Hsd10 Disease, Infantile Type
Dysphagia, Cyanosis ORPHA:391428
Atrial Septal Defect, Ostium Primum Type
Failure to thrive, Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypne... ORPHA:99106
Progressive Supranuclear Palsy
Impulsivity, Depression, Falls, Unsteady gait, Abnormal synaptic transmission ORPHA:683
Majeed Syndrome
Failure to thrive, Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Cachexia, Hypochrom... ORPHA:77297
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Sleep apnea, Overweight, Recurrent pneumonia OMIM:619769
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Toxic Epidermal Necrolysis
Respiratory distress, Polydipsia, Erythema, Cough, Weight loss, Restrictive ventilatory defect, N... ORPHA:537
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Failure to thrive, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:251100
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Respiratory distress, Prolonged neonatal jaundice ORPHA:226313
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Respiratory insufficiency ORPHA:157973
Classic Hodgkin Lymphoma
Respiratory insufficiency, Weight loss, Cough, Splenomegaly ORPHA:391
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Moebius Syndrome
Dysphagia, Respiratory distress, Hypoplasia of the brainstem OMIM:157900
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Failure to thrive, Leukopenia, Neutropenia, Thrombocytopenia OMIM:251000
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia OMIM:606763
Pseudomyxoma Peritonei
Respiratory insufficiency, Weight loss ORPHA:26790
Huntington Disease
Decreased body mass index, Polyphagia, Weight loss, Choking episodes, Oral-pharyngeal dysphagia ORPHA:399
Double Outlet Right Ventricle
Failure to thrive, Cyanosis, Tachypnea ORPHA:3426
Malignant Peritoneal Mesothelioma
Dyspnea, Weight loss ORPHA:168811
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Acrocyanosis OMIM:614407
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Hepatosplenomegaly, Generalized abnormality of skin, Res... ORPHA:367
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Fatal Familial Insomnia
Dysphagia, Apnea, Weight loss OMIM:600072
Huntington Disease-Like 2
Weight loss OMIM:606438
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysphagia, Cyanosis, Failure to thrive in infancy ORPHA:488627
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive, EEG abnormality ORPHA:50810
Bullous Pemphigoid
Weight loss, Urticaria, Erythema ORPHA:703
Poems Syndrome
Polycythemia, Thrombocytosis, Restrictive ventilatory defect, Pleural effusion, Weight loss, Pulm... ORPHA:2905
Septopreoptic Holoprosencephaly
Dysphagia, Hypoplasia of the pons, Abnormal midbrain morphology ORPHA:280195
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Failure to thrive, Exertional dyspnea, Anemia, Respiratory failure, Respira... OMIM:220110
Spinocerebellar Ataxia 48
Dysphagia, Cachexia OMIM:618093
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Restrictive ventilatory defect,... OMIM:164310
Kasabach-Merritt Syndrome
Respiratory distress, Petechiae, Hypopnea, Leukopenia, Reticulocytosis, Purpura, Neutropenia, Mic... ORPHA:2330
Graves Disease, Susceptibility To, 1
Polyphagia, Weight loss OMIM:275000
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Weight loss, Aspiration pneumonia, Cough ORPHA:216866
Japanese Encephalitis
Respiratory distress, Abnormal pons morphology, EEG abnormality, Neutrophilia, Irregular respirat... ORPHA:79139
Systemic Mastocytosis With Associated Hematologic Neoplasm
Urticaria, Flushing, Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Mye... ORPHA:98849
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Severe failure to thrive ORPHA:3304
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, EEG abnormality, Aspiration pneumonia, Recurrent pneumonia, Hypovent... ORPHA:314655
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Telangiectasia, Abnormal brainstem morphology ORPHA:79279
Congenital Enterovirus Infection
Respiratory distress, Leukocytosis, Leukopenia, Abnormal macrophage morphology, Pleural effusion,... ORPHA:292
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Interstitial pneumonitis, Erythema, Cough, Angioedema, Dyspnea, Weig... ORPHA:139402
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Pleural empyema, Cough, Weight loss, Pleural effusion, Dyspnea, Anemia ORPHA:67
X-Linked Agammaglobulinemia
Failure to thrive, Sinusitis, Anemia, Recurrent pneumonia, Neutropenia, Weight loss, Thrombocytop... ORPHA:47
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Cutaneous photosensitivity ORPHA:312
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Urticaria, Neutrophilia, Vasculitis in the skin, Cutis marmorata, Splenomeg... ORPHA:3260
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Jaundice, Small for gestational age, Tachypnea, Pneumon... ORPHA:26793
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Tip-toe gait, Abnormal social behavior, Gait ataxia, Progres... ORPHA:309256
Moynahan Syndrome
Cachexia ORPHA:2574
Multiple Carboxylase Deficiency
Respiratory distress, Tachypnea ORPHA:148
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Cyanosis, Sudden episodic apnea ORPHA:159
Myotonic Dystrophy 1
Dysphagia, Respiratory distress OMIM:160900
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Failure to thrive, EEG with burst suppression ORPHA:329178
Criss-Cross Heart
Respiratory insufficiency, Cyanosis ORPHA:1461
Infantile Krabbe Disease
Respiratory distress, Failure to thrive, Decreased nerve conduction velocity, Cachexia, Respirato... ORPHA:206436
Perry Syndrome
Respiratory arrest, Central hypoventilation, Respiratory insufficiency, Weight loss, Hypoventilation OMIM:168605
Lymphatic Malformation 7
Respiratory distress, Anemia OMIM:617300
Systemic Capillary Leak Syndrome
Leukocytosis, Cough, Rhinorrhea, Pleural effusion, Cardiorespiratory arrest, Weight loss ORPHA:188
Felty Syndrome
Sinusitis, Rhinitis, Splenomegaly, Abnormal lymphocyte morphology, Weight loss, Recurrent pneumon... ORPHA:47612
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Goodpasture Syndrome
Increased DLCO, Cyanosis, Crackles, Tachypnea, Cough, Weight loss, Restrictive ventilatory defect... OMIM:233450
Al Amyloidosis
Bruising susceptibility, Nonproductive cough, Weight loss, Dysphagia, Dyspnea, Anemia, Obstructiv... ORPHA:85443
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Respiratory insufficiency, Neonatal respiratory distress, Dysp... ORPHA:98915
Acquired Purpura Fulminans
Macular purpura, Thrombocytopenia, Acrocyanosis ORPHA:49566
Hereditary Angioedema Type 1
Respiratory distress, Urticaria, Dermatographic urticaria, Inspiratory stridor, Dysphagia, Dyspnea ORPHA:100050
Atrial Septal Defect, Ostium Secundum Type
Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... ORPHA:99103
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Granulocytopenia, Macrocytic anemia OMIM:606164
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive ORPHA:927
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity, Abnormal social behavior ORPHA:530983
Tetanus
Dysphagia, Respiratory distress, Tachypnea ORPHA:3299
Castleman Disease
Decreased mean corpuscular volume, Cough, Weight loss, Dyspnea, Anemia, Thrombocytopenia, Jaundice ORPHA:160
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, EEG abnormality, Leukocytosis, Leukopenia, Tachypnea, Thrombocytosis, Weight loss, Hypsarr... ORPHA:20
Lead Poisoning
Asthma, Small for gestational age, Imbalanced hemoglobin synthesis, Abnormal respiratory system p... ORPHA:330015
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Failure to thrive, Respiratory failure, Dyspnea ORPHA:2707
Refractory Celiac Disease
Increased proportion of HLA DR+ T cells, Normocytic anemia, Iron deficiency anemia, Macrocytic an... ORPHA:398063
Familial Acute Necrotizing Encephalopathy
Abnormal pattern of respiration, Abnormal brainstem morphology, Abnormal brainstem MRI signal int... ORPHA:88619
Pfapa Syndrome
Weight loss, Splenomegaly ORPHA:42642
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Abnormal brainstem morphology ORPHA:370022
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia ORPHA:896
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Failure to thrive, Pulmonary arterial hypertension OMIM:619272
Q Fever
Respiratory distress, Splenomegaly, Hepatosplenomegaly, Cough, Weight loss, Purpura, Pneumonia, P... ORPHA:781
Unilateral Polymicrogyria
Apnea, Pseudobulbar paralysis, Cyanosis, Giant somatosensory evoked potentials, Epistaxis ORPHA:268943
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Asthma, Polydipsia, Central hypoventilation, Cyanosis, Polyphagia, Abnormal midbrain morphology, ... ORPHA:293987
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Increased pulm... ORPHA:99104
Brain-Lung-Thyroid Syndrome
Respiratory distress, Failure to thrive, Asthma, Abnormal eating behavior, Recurrent pneumonia, A... ORPHA:209905
Loeffler Endocarditis
Dyspnea, Eosinophilia, Weight loss, Cough ORPHA:75566
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis OMIM:619580
Juvenile Huntington Disease
Weight loss ORPHA:248111
Stevens-Johnson Syndrome
Erythema, Cough, Abnormality of neutrophils, Weight loss, Restrictive ventilatory defect, Dysphag... ORPHA:36426
Rett Syndrome
Cachexia, Apnea, EEG abnormality, Intermittent hyperventilation OMIM:312750
Huntington Disease-Like 1
Weight loss, EEG abnormality ORPHA:157941
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Cachexia, Weight loss, Premature graying of hair ORPHA:1979
Diamond-Blackfan Anemia 10
Respiratory distress, Steroid-responsive anemia, Macrocytic anemia, Anemia, Reticulocytopenia OMIM:613309
Craniofaciofrontodigital Syndrome
Respiratory distress, Palmoplantar cutis laxa, Large for gestational age, Prominent superficial v... ORPHA:363705
Laryngotracheoesophageal Cleft Type 4
Cachexia, Respiratory insufficiency, Abnormality of the spleen ORPHA:93941
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Urticaria, Neutropenia in presence of anti-neutropil antibodies, Splenomega... ORPHA:37042
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Desmoplastic Small Round Cell Tumor
Cachexia, Anemia, Weight loss ORPHA:83469
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Dyspnea, Intermittent hyper... ORPHA:348
Christianson Syndrome
Dysphagia, Cachexia ORPHA:85278
Benign Recurrent Intrahepatic Cholestasis
Weight loss, Jaundice ORPHA:65682
Nasolacrimal Duct Cyst
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea... ORPHA:141083
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Disinhibition, Abnormal social behavior ORPHA:1020
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Polyarteritis Nodosa
Cutis marmorata, Weight loss, Erythema ORPHA:767
Adult Krabbe Disease
Abnormal pons morphology, EEG abnormality, Abnormal medulla oblongata morphology, Abnormal midbra... ORPHA:206448
Wolman Disease
Cachexia, Anemia, Bone-marrow foam cells, Splenomegaly ORPHA:75233
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Obesity, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:141750
Joubert Syndrome 2
Elongated superior cerebellar peduncle, Failure to thrive, Episodic tachypnea, Central apnea, Neo... OMIM:608091
Aicardi-Goutieres Syndrome 1
Petechiae, Splenomegaly, Erythema, Purpura, Prolonged neonatal jaundice, Thrombocytopenia, Acrocy... OMIM:225750
Joubert Syndrome 8
Hyperventilation, Obesity, Molar tooth sign on MRI, Prolonged neonatal jaundice OMIM:612291
Lujo Hemorrhagic Fever
Respiratory distress, Lymphopenia, Rhinitis, Leukocytosis, Nonproductive cough, Leukopenia, Crack... ORPHA:319213
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Beta-Ketothiolase Deficiency
Oral aversion, Leukocytosis, Tachypnea, Cough, Thrombocytosis, Weight loss ORPHA:134
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death OMIM:300219
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Abnormal brainstem morphology ORPHA:300573
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Neutrophilia, Failure to thrive in infancy, Splenomegaly OMIM:612852
Focal Myositis
Weight loss ORPHA:48918
Congenital Muscular Dystrophy With Cerebellar Involvement
Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology, Hypoplasi... ORPHA:370959
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, EEG with focal spike waves, Abnormal brainstem morphology ORPHA:370997
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Tachypnea ORPHA:31826
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Splenomegaly, Leukopenia, Recurrent pneumonia, Neutropenia, Anemia, Thrombo... OMIM:617303
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Osteootohepatoenteric Syndrome
Failure to thrive, Asthma, Weight loss, Prolonged neonatal jaundice, Anemia OMIM:619377
Hirschsprung Disease
Weight loss, Failure to thrive in infancy ORPHA:388
Juvenile Dermatomyositis
Telangiectasia of the skin, Mucosal telangiectasiae, Erythema, Cough, Cutaneous photosensitivity,... ORPHA:93672
Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia of the skin, Hemothorax, Lip telangiectasia, Fingerpad telangiectases, Tongue tela... OMIM:187300
Polycythemia Vera
Bruising susceptibility, Splenomegaly, Epistaxis, Respiratory insufficiency, Pulmonary embolism, ... ORPHA:729
Spinocerebellar Ataxia, X-Linked 3
Dysphagia, Episodic respiratory distress, Episodic hypoventilation OMIM:301790
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Neonatal death OMIM:231680
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Decreased nerve conduction velocity, Progressive gait ataxia, Abnormal social... ORPHA:309263
Tarp Syndrome
Extramedullary hematopoiesis, Failure to thrive, Cyanosis, Apnea ORPHA:2886
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Purpura, Acrocyanosis, Erythema ORPHA:343
Generalized Pseudohypoaldosteronism Type 1
Weight loss, Failure to thrive in infancy, Cough, Wheezing ORPHA:171876
Thymic Neuroendocrine Tumor
Prominent veins on trunk, Weight loss, Abnormal breath sound, Cough ORPHA:97289
Fucosidosis
Failure to thrive, Vascular skin abnormality, Acrocyanosis ORPHA:349
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Flynn-Aird Syndrome
Cachexia, EEG abnormality ORPHA:2047
Farber Disease
Respiratory distress, Failure to thrive, Hepatosplenomegaly, Respiratory insufficiency, Anemia, T... ORPHA:333
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Small for gestational age, Persistence of hemoglo... ORPHA:124
Pemphigus Vulgaris
Weight loss, Urticaria ORPHA:704
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Polycythemia, Palmar telangiectasia, Cyanosis, Conjunctival telangiec... OMIM:600376
Rodrigues Blindness
Nasal flaring, Ectodermal dysplasia OMIM:268320
Alternating Hemiplegia Of Childhood
Respiratory distress, Failure to thrive, Flushing, Apnea, Aspiration, Dysphagia, Oral-pharyngeal ... ORPHA:2131
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Weight loss, Neutrophilia ORPHA:54251
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Failure to thrive, Respiratory insufficiency, Respiratory failure requiring... ORPHA:308552
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Absence Of The Pulmonary Artery
Nonproductive cough, Cyanosis, Orthopnea, Recurrent pneumonia, Bronchiectasis, Dyspnea, Pulmonary... ORPHA:980
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Atrioventricular Septal Defect 3
Cyanosis, Pulmonary arterial hypertension OMIM:600309
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, EEG abnormality, Severe failure to thrive, Obstructive sleep apnea ORPHA:371364
Mitochondrial Complex I Deficiency, Nuclear Type 1
Failure to thrive, Apnea, Splenomegaly, Cyanosis, Respiratory insufficiency, Respiratory failure OMIM:252010
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Decreased body weight, Petechiae, Leukocytosis, Epistaxis, Cough, Ecchymosi... ORPHA:340
Peripheral Primitive Neuroectodermal Tumor
Anemia, Weight loss, Jaundice, Abnormal superior cerebellar peduncle morphology ORPHA:370348
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Apnea, Hepatosplenomegaly, Thrombocyto... ORPHA:79330
Mcdonough Syndrome
Cachexia ORPHA:2471
Meckel Syndrome 14
Cardiorespiratory arrest, Cyanosis, Pneumothorax OMIM:619879
Non-Functioning Paraganglioma
Weight loss, Flushing ORPHA:94080
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Decreased nerve conduction velocity ORPHA:1933
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Cyanosis, Wheezing, Upper airway obstruction, Dyspnea ORPHA:141127
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Abnormal social behavior, Depression, Difficulty walking, Pr... ORPHA:309271
Polymyositis
Exertional dyspnea, Weight loss, Respiratory insufficiency, Cough ORPHA:732
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Anxiety, EEG with spike-wave complexes ORPHA:36387
Bacterial Toxic-Shock Syndrome
Respiratory distress, Increased circulating myelocyte count, Sinusitis, Tachypnea, Ecchymosis, Pn... ORPHA:36234
48,Xxxy Syndrome
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Abnormal aggressive,... ORPHA:96263
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Decreased amplitude of sensory action potentials, Decreased nerve conductio... OMIM:618733
Primary Hepatic Neuroendocrine Carcinoma
Bronchospasm, Facial telangiectasia, Dyspnea, Weight loss, Intermittent jaundice ORPHA:100085
Kaposi Sarcoma
Weight loss, Abnormality of the spleen ORPHA:33276
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Failure to thrive, Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:99050
Gm1 Gangliosidosis
Failure to thrive, Oral aversion, Splenomegaly, Aspiration pneumonia, Hepatosplenomegaly, Dysphag... ORPHA:354
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Respiratory insufficiency OMIM:618186
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Decreased body weight, Abnormal brainstem MRI signal intensity, Pontocerebellar atrophy, Respirat... ORPHA:258
Odontochondrodysplasia 1
Respiratory distress OMIM:184260
Alveolar Echinococcosis
Eosinophilia, Abnormal spleen morphology, Cough, Weight loss, Dyspnea, Anemia, Jaundice ORPHA:284
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Medullary Thyroid Carcinoma
Dysphagia, Weight loss ORPHA:1332
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Leukopenia, Recurrent pneumonia, Neutropenia, Thrombocytopenia OMIM:616271
Whipple Disease
Polydipsia, Splenomegaly, Cachexia, Respiratory insufficiency, Cough, Anemia ORPHA:3452
Cronkhite-Canada Syndrome
Cachexia, Anemia, Splenomegaly ORPHA:2930
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress OMIM:619383
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Mgat2-Cdg
Respiratory distress, Failure to thrive, Impaired lymphocyte transformation with phytohemagglutin... ORPHA:79329
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Hypoxemia, Weakness of muscles of respiration, Aspiration pneumonia, Hypercapn... ORPHA:2020
Nodular Non-Suppurative Panniculitis
Weight loss, Erythema, Splenomegaly ORPHA:33577
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Weight loss, Hemophagocytosis ORPHA:86884
Slc35A2-Cdg
EEG with focal epileptiform discharges, Atrophy/Degeneration affecting the brainstem, Abnormal mi... ORPHA:356961
Igg4-Related Aortitis
Asthma, Weight loss, Hypereosinophilia ORPHA:449400
Cystic Echinococcosis
Asthma, Urticaria, Eosinophilia, Splenic cyst, Weight loss, Jaundice ORPHA:400
Yao Syndrome
Asthma, Weight loss OMIM:617321
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Megaloblastic anemia, Failure to thrive, Pulmonary embolism, Pulmonary arte... ORPHA:79282
Neuroendocrine Tumor Of Stomach
Bronchospasm, Iron deficiency anemia, Facial telangiectasia, Dermatological manifestations of sys... ORPHA:100075
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Abnormal brainstem morphology, Hypochromic anemia ORPHA:2720
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Weight loss ORPHA:95427
Histiocytoid Cardiomyopathy
Failure to thrive, Cyanosis, Cough, Tachypnea ORPHA:137675
Leigh Syndrome
Failure to thrive, Abnormal brainstem MRI signal intensity, Hypsarrhythmia, Neutropenia, Dysphagi... ORPHA:506
Diaphanospondylodysostosis
Respiratory distress, Respiratory insufficiency, Tracheomalacia OMIM:608022
Erdheim-Chester Disease
Polydipsia, Cough, Weight loss, Pleural effusion, Dyspnea, Anemia ORPHA:35687
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Failure to thrive, Sleep apnea, Respiratory insufficiency, Orthopnea, Dysph... ORPHA:365
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia, Exertional dyspnea ORPHA:42
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Thrombocytosis, Weight loss, Pulmonary arterial hyper... ORPHA:71493
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Anemia, Weight loss OMIM:256700
Primary Intestinal Lymphangiectasia
Lymphopenia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Pleural effusion, A... ORPHA:90362
Klatskin Tumor