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Gene: Ror1 MGI:1347520

Gene Summary

Name:

receptor tyrosine kinase-like orphan receptor 1

Synonyms:

Ntrkr1, 2810404D04Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Ror1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Ror1^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
abnormal thymus morphology	Ror1^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
small kidney	Ror1^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
abnormal uterus morphology	Ror1^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
abnormal spleen morphology	Ror1^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
enlarged spleen	Ror1^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
increased prepulse inhibition	Ror1^{em1(IMPC)Ccpcz}	HET	Early adult	3.78×10^-05
hydrometra	Ror1^{em1(IMPC)Ccpcz}	HET	Early adult	0.00

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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.

Human diseases associated with Ror1 (1 diseases)
Human diseases predicted to be associated with Ror1 (815 diseases)

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	Matching phenotypes	Source
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment...	OMIM:609129
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment	OMIM:601071
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib...	OMIM:616515
Anencephaly 1	Spina bifida, Anencephaly	OMIM:206500
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis, Desquamative interstitial pneumonitis, Respiratory distress, Cough, Recurrent upper res...	OMIM:263000
Apnea, Central Sleep	Irregular respiration, Cyanosis, Sleep apnea, Abnormal pattern of respiration	OMIM:207720
Surfactant Metabolism Dysfunction, Pulmonary, 3	Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par...	OMIM:610921
Bronchopulmonary Dysplasia	Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Abnormal respiratory system physiolo...	ORPHA:70589
Surfactant Metabolism Dysfunction, Pulmonary, 1	Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Desquamative ...	OMIM:265120
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly, Hepatomegaly	ORPHA:294
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Muscular Hypertonia, Lethal	Pneumonia, Respiratory distress, Death in infancy	OMIM:254120
Laryngotracheal Angioma	Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing	ORPHA:137935
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy...	OMIM:267450
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, L...	OMIM:610910
Deafness, X-Linked 6	Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment	OMIM:300914
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Asbestos Intoxication	Cyanosis, Abnormal pulmonary interstitial morphology, Exertional dyspnea, Late inspiratory crackl...	ORPHA:2302
Phosphoserine Aminotransferase Deficiency	Apnea, Cyanotic episode, Death in infancy	OMIM:610992
Lethal Congenital Contracture Syndrome 3	Respiratory insufficiency, Neonatal death	OMIM:611369
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory insufficiency, Cyanosis, Bronchiectasis, Desquamative interstitial pneumonitis, Decre...	OMIM:610913
Mucus Inspissation Of Respiratory Tract	Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection...	OMIM:253240
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec...	OMIM:619466
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re...	OMIM:619773
Opticocochleodentate Degeneration	Cochlear degeneration, Hearing impairment, Optic atrophy	OMIM:258700
Deafness, Autosomal Dominant 9	Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali...	OMIM:601369
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Perching Syndrome	Cyanosis, Respiratory distress	OMIM:617055
Infant Acute Respiratory Distress Syndrome	Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai...	ORPHA:70587
Ciliary Dyskinesia, Primary, 21	Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re...	OMIM:615294
Ciliary Dyskinesia, Primary, 29	Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi...	OMIM:615872
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Emphysema, Hereditary Pulmonary	Chronic bronchitis, Chronic pulmonary obstruction, Emphysema	OMIM:130700
Pulmonary Blastoma	Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough	ORPHA:64741
Chronic Pneumonitis Of Infancy	Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress...	ORPHA:91359
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE...	ORPHA:1303
Deafness, Autosomal Dominant 77	Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus	OMIM:618915
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Isolated Congenital Hypoglossia/Aglossia	Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress	ORPHA:141152
Cryptogenic Organizing Pneumonia	Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect...	ORPHA:1302
Familial Nasal Acilia	Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp...	ORPHA:922
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Laryngotracheoesophageal Cleft	Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respirato...	ORPHA:2004
Recurrent Respiratory Papillomatosis	Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, D...	ORPHA:60032
Severe Acute Respiratory Syndrome	Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati...	ORPHA:140896
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
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
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron...	ORPHA:79127
Acute Interstitial Pneumonia	Cyanosis, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, Hypoxemia, ...	ORPHA:79126
Pleural Mesothelioma	Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural...	ORPHA:50251
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Ciliary Dyskinesia, Primary, 33	Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low...	OMIM:616726
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Hereditary Pulmonary Alveolar Proteinosis	Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz...	ORPHA:264675
Cochleosaccular Degeneration-Cataract Syndrome	Cochlear degeneration, Progressive sensorineural hearing impairment	ORPHA:3233
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev...	OMIM:616648
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis, Respiratory distress	ORPHA:91130
Interstitial Lung Disease 2	Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe...	OMIM:178500
Hemoglobin H Disease	Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly	OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F	ORPHA:46532
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Idiopathic Bronchiectasis	Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio...	ORPHA:60033
Stuve-Wiedemann Syndrome 2	Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Neonatal...	OMIM:619751
Interstitial Lung Disease 1	Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev...	OMIM:619611
Congenital Pulmonary Lymphangiectasia	Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Chronic pulmonary obstruction, P...	ORPHA:2414
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Succinic Acidemia	Respiratory distress	OMIM:600335
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Neuralgic Amyotrophy	Respiratory insufficiency, Acrocyanosis	ORPHA:2901
Ciliary Dyskinesia, Primary, 20	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis...	OMIM:615067
Obesity-Hypoventilation Syndrome	Cyanosis, Hypoventilation	OMIM:257500
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl...	OMIM:600791
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Intraalveolar phospholipid accumulation, Hypoxemia, Crackles, Restrictive ventilatory d...	ORPHA:747
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa...	ORPHA:320401
Cleft Larynx, Posterior	Cyanosis, Aspiration	OMIM:215800
Deafness, X-Linked 2	Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s...	OMIM:304400
Primary Pulmonary Hypoplasia	Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Pulmonary hypoplasia, Apnea, Re...	ORPHA:2257
Deafness, Autosomal Recessive 109	Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment	OMIM:618013
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Pulmonary v...	OMIM:234810
Gaucher Disease Type 2	Abnormal pattern of respiration, Cough, Respiratory distress, Recurrent respiratory infections	ORPHA:77260
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Laryngomalacia	Congenital laryngeal stridor, Respiratory distress	OMIM:150280
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,...	OMIM:300614
Myasthenic Syndrome, Congenital, 6, Presynaptic	Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a...	OMIM:254210
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Surfactant Metabolism Dysfunction, Pulmonary, 5	Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ...	OMIM:614370
Meconium Aspiration Syndrome	Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr...	ORPHA:70588
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated bronchoalveolar lavage fluid neutrophil proportion, Asthma, Hypoxemia, Respiratory distr...	OMIM:610978
Choanal Atresia	Cyanosis, Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway o...	ORPHA:137914
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia, Hypoxemia, Respiratory distress	ORPHA:2140
Tracheobronchopathia Osteochondroplastica	Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator...	ORPHA:3348
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4	Apnea, Neonatal death, Pulmonary hypoplasia	OMIM:615228
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly, Hepatomegaly	OMIM:606445
Idiopathic Chronic Eosinophilic Pneumonia	Asthma, Hypoxemia, Pleural effusion, Crackles, Restrictive ventilatory defect, Dyspnea, Hypersens...	ORPHA:2902
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Cough, Dyspnea, Panacinar emph...	OMIM:613490
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Chronic sinusitis, Atelectasis	OMIM:300455
Bardet-Biedl Syndrome 16	Bronchiolitis, Recurrent respiratory infections, Respiratory distress	OMIM:615993
Pulmonary Non-Tuberculous Mycobacterial Infection	Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi...	ORPHA:411703
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Hemosiderin-laden macrophages i...	OMIM:616414
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Pulmonary edema, Hy...	ORPHA:199241
Tyrosinemia Type 1	Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly	ORPHA:882
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment	OMIM:601455
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly, Trimethylaminuria	OMIM:602079
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen...	OMIM:133180
Acute Lung Injury	Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem...	ORPHA:178320
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a...	OMIM:605809
Laryngeal Abductor Paralysis	Cyanosis, Stridor	OMIM:150260
Chromosome Xq21 Deletion Syndrome	Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi...	OMIM:303110
Branchiootic Syndrome 1	Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M...	OMIM:602588
Pendred Syndrome	Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment	OMIM:274600
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Testicular Regression Syndrome	Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo...	ORPHA:983
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia...	OMIM:615285
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi...	ORPHA:444463
Idiopathic Pulmonary Fibrosis	Abnormal pulmonary interstitial morphology, Exertional dyspnea, Bronchiectasis, Honeycomb lung, R...	ORPHA:2032
Hyperbilirubinemia, Shunt, Primary	Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ...	OMIM:237800
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy	OMIM:617519
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
46,Xy Sex Reversal 3	Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm...	OMIM:612965
Immunodeficiency 42	Hypoplasia of the thymus, Splenomegaly, Hepatomegaly	OMIM:616622
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory insufficiency, Respiratory distress	ORPHA:238329
46,Xy Sex Reversal 11	Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulating follicle stimulating hormon...	OMIM:273250
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy	OMIM:125250
Lethal Osteosclerotic Bone Dysplasia	Respiratory failure, Dyspnea, Respiratory distress	ORPHA:1832
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Upper airway obstruction, Erythema, Angioedema, Urticaria	ORPHA:100057
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Pulm...	ORPHA:36238
Immunodeficiency 104	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly	OMIM:608971
Monosodium Glutamate Sensitivity	Dyspnea, Flushing	OMIM:231630
Cyanosis, Transient Neonatal	Cyanosis, Jaundice	OMIM:613977
Slc35A1-Cdg	Pulmonary hemorrhage, Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Pneumonia	ORPHA:238459
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis, Central apnea	ORPHA:71277
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged...	ORPHA:90646
Breath-Holding Spells	Cyanosis	OMIM:607578
Sarcoidosis, Susceptibility To, 2	Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch...	OMIM:612387
Autoinflammation With Episodic Fever And Lymphadenopathy	Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis	OMIM:618852
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Splenomegaly, Hepatomegaly	OMIM:619462
Congenital Tracheomalacia	Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy...	ORPHA:95430
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Splenomegaly, Hepatomegaly	ORPHA:417
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Abcd Syndrome	Abnormal auditory evoked potentials, Aganglionic megacolon, Total intestinal aganglionosis, Heari...	OMIM:600501
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Usher Syndrome Type 3	Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology	ORPHA:231183
Autoimmune Hemolytic Anemia, Cold Type	Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia	ORPHA:228312
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Mohr-Tranebjaerg Syndrome	Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor...	ORPHA:52368
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis, Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vital capacity, ...	ORPHA:98913
Galactosemia Iii	Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly	OMIM:230350
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri...	ORPHA:100024
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Respiratory insufficiency, Neonatal death, Bilateral lung agenesis	OMIM:601612
Acquired Methemoglobinemia	Dyspnea, Cyanosis, Hypoxemia, Respiratory distress	ORPHA:464453
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem...	OMIM:601596
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Congenital Myopathy 10A, Severe Variant	Respiratory insufficiency, Restrictive ventilatory defect, Respiratory distress, Respiratory failure	OMIM:614399
Chronic Beryllium Disease	Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system...	ORPHA:133
Allergic Bronchopulmonary Aspergillosis	Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Emphysema, Cough	ORPHA:1164
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Surfactant Metabolism Dysfunction, Pulmonary, 4	Intraalveolar phospholipid accumulation, Reduced forced vital capacity, Restrictive ventilatory d...	OMIM:300770
Hemochromatosis, Type 2B	Hepatic fibrosis, Anemia, Cirrhosis, Hypogonadism, Hepatomegaly, Splenomegaly	OMIM:613313
Usher Syndrome Type 1	Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology	ORPHA:231169
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis	OMIM:269600
Leydig Cell Hypoplasia	Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell...	ORPHA:755
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Hypoadrenocorticism, Familial	Apnea, Cyanosis	OMIM:240200
Hypertriglyceridemia, Transient Infantile	Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly	OMIM:614480
Amyloidosis, Familial Visceral	Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly	OMIM:105200
Deafness, Autosomal Dominant 80	Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear...	OMIM:619274
Pulmonary Alveolar Microlithiasis	Respiratory insufficiency, Cyanosis, Bronchitis, Respiratory tract infection, Pneumothorax, Exert...	ORPHA:60025
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly	OMIM:620010
Mitochondrial Phosphate Carrier Deficiency	Respiratory insufficiency, Cyanosis	OMIM:610773
Immunodeficiency 69	Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly	OMIM:618963
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Respiratory insufficiency, Intraalveolar phospholipid accumulation, Death in infancy, Death in ad...	OMIM:618042
Mast Cell Sarcoma	Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:66661
Alpha-Thalassemia	Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia...	ORPHA:846
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re...	ORPHA:254875
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Hereditary Methemoglobinemia	Cyanosis, Exertional dyspnea	ORPHA:621
Larsen-Like Syndrome, Lethal Type	Respiratory insufficiency, Tracheomalacia, Neonatal death, Pulmonary hypoplasia	OMIM:245650
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ...	OMIM:266810
Anaplastic Thyroid Carcinoma	Respiratory distress, Upper airway obstruction, Dyspnea, Cough, Stridor, Neoplasm of the lung	ORPHA:142
Avian Influenza	Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarriage, Pleural effusion, D...	ORPHA:454836
Nephronophthisis 19	Hepatic fibrosis, Stage 5 chronic kidney disease, Malformation of the hepatic ductal plate, Bile ...	OMIM:616217
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypoplasia of penis, Hypospadias, Abnormality of the ureter, Ascites, Splenomegaly	ORPHA:1046
Splenoportal Vascular Anomalies	Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly	OMIM:271500
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly	OMIM:610293
Alpha-1-Antitrypsin Deficiency	Jaundice, Emphysema	ORPHA:60
Ciliary Dyskinesia, Primary, 2	Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Recurrent respiratory infections...	OMIM:606763
Portal Hypertension, Noncirrhotic, 1	Portal hypertension, Splenomegaly, Hepatomegaly	OMIM:617068
46,Xx Ovotesticular Disorder Of Sex Development	Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo...	ORPHA:2138
Tricuspid Atresia	Cyanosis, Pulmonary artery atresia	ORPHA:1209
Benign Familial Neonatal Epilepsy	Apnea, Circumoral cyanosis	ORPHA:1949
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:86893
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly	OMIM:224100
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu...	OMIM:614470
X-Linked Centronuclear Myopathy	Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress, Recurrent re...	ORPHA:596
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,...	OMIM:603552
Nipah Virus Disease	Cough, Respiratory distress, Recurrent pharyngitis	ORPHA:99825
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti...	OMIM:617514
Immunodeficiency 76	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly	OMIM:619164
Pneumocystosis	Respiratory insufficiency, Exertional dyspnea, Interstitial pneumonitis, Hypoxemia, Pleural effus...	ORPHA:723
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory failure requiring assisted ventilation, Ventilator dependence with inability to wean,...	ORPHA:254864
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Respiratory distress, Atelectasis, Death in infancy	OMIM:300219
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal...	OMIM:615234
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Malaria	Respiratory distress	ORPHA:673
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment...	ORPHA:1215
Congenital Disorder Of Glycosylation, Type Iu	Neonatal respiratory distress, Respiratory distress, Death in infancy	OMIM:615042
Pulmonary Arteriovenous Malformation	Pulmonary arterial hypertension, Cyanosis, Pulmonary hemorrhage, Telangiectasia, Hemothorax, Pleu...	ORPHA:2038
Restrictive Dermopathy 2	Cyanosis, Respiratory distress	OMIM:619793
Acrocraniofacial Dysostosis	Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,...	OMIM:201050
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:610539
Premature Ovarian Failure 7	Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevated circulating follicle...	OMIM:612964
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg...	OMIM:615631
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo...	OMIM:615513
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6	Paradoxical respiration, Respiratory distress, Recurrent acute respiratory tract infection	OMIM:620011
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1	Premature graying of hair, Usual interstitial pneumonia, Reticular pattern on pulmonary HRCT, Cra...	OMIM:614742
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Hydrocephalus, Sensorineural hearing impairment	OMIM:109120
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Increased circulatin...	ORPHA:168563
Thyroid Lymphoma	Upper airway obstruction, Dyspnea, Respiratory distress, Stridor	ORPHA:97285
Hemochromatosis, Type 2A	Cirrhosis, Azoospermia, Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly	OMIM:602390
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Alpha-Heavy Chain Disease	Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly	ORPHA:100025
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Pendred Syndrome	Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Abnorm...	ORPHA:705
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure, Paroxysmal dyspnea, Stridor, Cyanosis	ORPHA:444013
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Hepatomegaly,...	ORPHA:79301
Auriculocondylar Syndrome 2	Apnea, Snoring, Respiratory distress	OMIM:614669
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Amed Syndrome, Digenic	Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Hypopl...	OMIM:619151
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Follicular Lymphoma	Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum, Mediastinal lymphadenopathy	ORPHA:545
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cyanosis, Recurrent lower respiratory tract infections, Death in infancy, Respiratory distress, A...	OMIM:618426
Bronchogenic Cyst	Abnormal pleura morphology, Pulmonary cyst, Dyspnea, Cough, Bronchogenic cyst, Pneumonia, Atelect...	ORPHA:2357
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Nephrotic syndrome, Stage 5 chronic kidney disease, Generalized lymphaden...	OMIM:615559
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Epidermodysplasia Verruciformis, Susceptibility To, 4	Facial erythema, Emphysema	OMIM:618307
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Splenomegaly	OMIM:619658
Chitayat Syndrome	Tracheomalacia, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Res...	OMIM:617180
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	ORPHA:172
Spherocytosis, Type 5	Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S...	OMIM:612690
Complete Androgen Insensitivity Syndrome	Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Aplasia/Hypo...	ORPHA:99429
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly	OMIM:613101
Waardenburg Syndrome Type 3	Tracheomalacia, Acrocyanosis, Atelectasis	ORPHA:896
Congenital Myasthenic Syndrome	Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator...	ORPHA:98914
Coenzyme Q10 Deficiency, Primary, 8	Pulmonary hypoplasia, Respiratory distress	OMIM:616733
Androgen Insensitivity Syndrome	Ambiguous genitalia, male, Abnormality of the uterus, Male pseudohermaphroditism, Aplasia/Hypopla...	ORPHA:754
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo...	ORPHA:75564
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho...	ORPHA:766
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Diethylstilbestrol Syndrome	Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa...	ORPHA:1916
Partial Androgen Insensitivity Syndrome	Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m...	ORPHA:90797
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Congenital Disorder Of Glycosylation, Type Ix	Death in childhood, Respiratory distress	OMIM:615597
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm...	OMIM:619375
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Pulmonary fibrosis, Exertional dyspnea, Atelectasis	ORPHA:254361
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Harderoporphyria	Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Hepatomegal...	OMIM:618892
Immunodeficiency 64 With Lymphoproliferation	Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In...	OMIM:618534
Beta-Thalassemia	Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Hypogonadotropic hypogonadism, Thrombocytopenia,...	ORPHA:848
Brown-Vialetto-Van Laere Syndrome 1	Respiratory insufficiency, Nocturnal hypoventilation, Respiratory distress, Dyspnea, Stridor, Rec...	OMIM:211530
Testicular Agenesis	Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,...	ORPHA:325124
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr...	ORPHA:2585
Erythrocytosis, Familial, 8	Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia	OMIM:222800
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Branchiogenic Deafness Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os...	ORPHA:50815
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiolitis	OMIM:604571
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Ovarian Dysgenesis 6	Hypergonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:618078
Ovarian Dysgenesis 5	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:617690
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Nephrotic syndrome, Nephrocalcinosis, Hematuria, Distal renal tubular acidosis, Proximal renal tu...	OMIM:146255
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment, Cervica...	OMIM:619260
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Bor Syndrome	Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Facial palsy, Enlarged cochlea...	ORPHA:107
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Death in infancy, Respiratory distress, Respiratory failure, Tachypnea	OMIM:614299
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Splenomegaly	OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Acholic stools, Portal fibrosis, Hepatomegaly, Splenomegaly	OMIM:619868
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:300510
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Optic disc pallor	OMIM:617523
Perrault Syndrome 3	Streak ovary, Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Ele...	OMIM:614129
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas...	ORPHA:1414
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory failure, Recurrent respiratory infections, Dyspnea, Respiratory distress	ORPHA:2759
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel...	OMIM:602450
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Gonadoblastoma, Renal insufficiency, Abnormality of the uterus, Hypospadias, Nephropathy, Cryptor...	OMIM:194072
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ...	OMIM:619849
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism...	OMIM:614841
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Buerger Disease	Acrocyanosis	ORPHA:36258
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Cochlear degeneration, Hearing impairment, Optic atrophy	ORPHA:95433
Immunodeficiency 27A	Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge...	OMIM:209950
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte...	OMIM:616278
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Dyspnea, Respiratory distress, Cough	ORPHA:86812
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto...	OMIM:616689
Congenital Tricuspid Valve Dysplasia	Cyanosis, Hypoxemia, Anomalous pulmonary venous return, Respiratory failure, Respiratory failure ...	ORPHA:555874
Mullerian Aplasia And Hyperandrogenism	Aplasia of the vagina, Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the u...	OMIM:158330
Crouzon Syndrome	Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hydrocephalus, Hear...	ORPHA:207
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Primary Ciliary Dyskinesia	Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Peribronchova...	ORPHA:244
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo...	OMIM:612840
Aprosencephaly Syndrome	Anencephaly, Aprosencephaly	OMIM:207770
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen...	OMIM:314050
Premature Ovarian Failure 13	Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus	OMIM:617442
Proteus-Like Syndrome	Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly	ORPHA:2969
Matthew-Wood Syndrome	Vesicoureteral reflux, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormalit...	ORPHA:2470
46,Xy Sex Reversal 7	Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi...	OMIM:233420
Pfapa Syndrome	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:42642
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ...	OMIM:601859
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Prostate cancer, Acute lymphob...	ORPHA:158057
Cholesteryl Ester Storage Disease	Jaundice, Cirrhosis, Splenomegaly, Hepatomegaly	ORPHA:75234
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Glycogen Storage Disease Ixb	Increased hepatic glycogen content, Splenomegaly, Hepatomegaly	OMIM:261750
Premature Ovarian Failure 6	Streak ovary, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimu...	OMIM:612310
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph...	ORPHA:217563
Birt-Hogg-Dubé Syndrome	Pulmonary sequestration, Pneumothorax, Emphysema	ORPHA:122
Osteopetrosis, Autosomal Dominant 3	Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly	OMIM:618107
Tetrasomy 5P	Pulmonary arterial hypertension, Cyanosis, Pulmonary hypoplasia, Respiratory distress, Recurrent ...	ORPHA:3309
Folinic Acid-Responsive Seizures	Apnea, Respiratory distress	ORPHA:79097
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Apnea, Cyanosis	OMIM:261680
Cold Agglutinin Disease	Hemolytic anemia, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly	ORPHA:56425
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Cyanosis, Intercostal retractions, Crackles, Recurrent pneumo...	ORPHA:1329
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis...	OMIM:614837
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Premature Ovarian Failure 18	Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul...	OMIM:619203
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt...	OMIM:235700
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul...	OMIM:619665
Indolent Systemic Mastocytosis	Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m...	ORPHA:98848
Fish-Eye Disease	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:79292
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Splenomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:612526
Tularemia	Pleural effusion, Pneumonia, Cough, Respiratory distress	ORPHA:3392
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Lymphoproliferative Syndrome 2	Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas...	OMIM:615122
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Isolated Right Ventricular Hypoplasia	Dyspnea, Cyanosis, Hypoxemia	ORPHA:439
Overhydrated Hereditary Stomatocytosis	Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea...	ORPHA:3203
Congenital Tracheal Stenosis	Cyanosis, Anomalous origin of left pulmonary artery from ascending aorta, Abnormal lung lobation,...	ORPHA:141127
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Beta-Thalassemia Intermedia	Cholelithiasis, Cirrhosis, Proximal tubulopathy, Abnormality of the liver, Hypogonadism, Increase...	ORPHA:231222
Sepsis In Premature Infants	Cyanosis, Petechiae, Nasal flaring, Jaundice, Abnormal respiratory system physiology, Purpura, Dy...	ORPHA:90051
Sclerosing Cholangitis, Neonatal	Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic st...	OMIM:617394
Atrial Septal Defect, Ostium Primum Type	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Abnormal respiratory system physio...	ORPHA:99106
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor	OMIM:207950
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:618495
Hypoglossia With Situs Inversus	Upper airway obstruction, Respiratory distress	OMIM:612776
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly	ORPHA:158029
Polycythemia Vera	Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen...	OMIM:263300
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Thrombocytopenia, Hepatomega...	OMIM:619463
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr...	OMIM:602347
Osteopetrosis, Autosomal Recessive 8	Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly	OMIM:615085
Anemia, Congenital Dyserythropoietic, Type Iv	Splenomegaly, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells...	OMIM:613673
Spherocytosis, Type 4	Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis	OMIM:612653
Odontochondrodysplasia 1	Pulmonary hypoplasia, Recurrent respiratory infections, Respiratory distress, Death in infancy	OMIM:184260
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly	OMIM:185000
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Narrow internal auditory canal, Holoprosencephaly, Low-set, posteriorly rotated ears, Synotia, Ab...	ORPHA:990
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Irregular respiration, Inspiratory stridor, Respiratory distress, Death in infancy	OMIM:604377
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto...	OMIM:150550
Branchiootorenal Syndrome 1	Conductive hearing impairment, Sensorineural hearing impairment, Incomplete partition of the coch...	OMIM:113650
Adams-Oliver Syndrome 6	Portal hypertension, Hepatic fibrosis, Renal hypoplasia, Splenomegaly	OMIM:616589
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Bicornuate uterus, Azoospermia, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus	OMIM:601076
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Vesicoureteral reflux, Polycystic kidney dysplasia, Unilateral renal agenesis, Vaginal atresia, P...	ORPHA:2237
Multiple Carboxylase Deficiency	Respiratory distress, Tachypnea	ORPHA:148
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Anomalous pulmonary venous return, Hypoxemia, Tachypnea	ORPHA:860
Spherocytosis, Type 1	Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis	OMIM:182900
Atrial Septal Defect, Coronary Sinus Type	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Increased pulmonary vascular resis...	ORPHA:99104
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism...	ORPHA:64743
Multiple Acyl-Coa Dehydrogenase Deficiency	Jaundice, Neonatal death, Respiratory distress, Pulmonary hypoplasia	OMIM:231680
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Death in infancy, Jaundice, Respiratory distress, Death in adolescence...	OMIM:615512
Spherocytosis, Type 2	Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis	OMIM:616649
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Adrenocorticotropi...	ORPHA:90793
Pulmonary Hypertension, Primary, 1	Pulmonary arterial hypertension, Telangiectasia, Pulmonary arterial medial hypertrophy, Pulmonary...	OMIM:178600
Immunodeficiency 54	Reduced natural killer cell count, Adrenocorticotropic hormone excess, Lymphadenopathy, Hepatomeg...	OMIM:609981
Criss-Cross Heart	Respiratory insufficiency, Cyanosis	ORPHA:1461
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida	ORPHA:63260
Immunodeficiency, Common Variable, 1	B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas...	OMIM:607594
Hemochromatosis, Type 1	Cirrhosis, Azoospermia, Hepatocellular carcinoma, Testicular atrophy, Hepatomegaly, Hypogonadotro...	OMIM:235200
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Increased B cell count, Nephrotic syndrome, Coombs-positiv...	OMIM:603909
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter...	OMIM:613470
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea...	OMIM:266200
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen...	OMIM:615387
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He...	OMIM:194380
Absence Of The Pulmonary Artery	Pulmonary arterial hypertension, Cyanosis, Hypocapnia, Bronchiectasis, Pulmonary edema, Pulmonary...	ORPHA:980
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly	ORPHA:59303
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Congenital Disorder Of Glycosylation, Type Ie	Telangiectasia, Respiratory distress	OMIM:608799
Mercury Poisoning	Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress	ORPHA:330021
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Pulmonary arterial hypertension, Cyanosis, Anomalous origin of left pulmonary artery from ascendi...	ORPHA:99050
Atrial Septal Defect, Ostium Secundum Type	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Breathing dysregulation, Increased...	ORPHA:99103
Elliptocytosis 1	Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia	OMIM:611804
Griscelli Syndrome Type 2	Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly	ORPHA:79477
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Lumbar Syndrome	Vesicoureteral reflux, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus...	ORPHA:83628
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory failure, Pulmonary hypoplasia, Respiratory distress	OMIM:617895
Vaginal Atresia	Imperforate hymen, Pelvic mass, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, A...	ORPHA:65681
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Prolonged neonatal jaundice, Respiratory distress	ORPHA:226313
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Ciliary Dyskinesia, Primary, 1	Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Pneumo...	OMIM:244400
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormal fallopian tube morphology, Splenomegaly, Pulmonary lymphangiectasia, Hepatosplenomegaly,...	ORPHA:1655
Double Outlet Right Ventricle	Cyanosis, Pulmonary artery atresia, Tachypnea	ORPHA:3426
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory insufficiency, Respiratory distress	ORPHA:1145
Goodpasture Syndrome	Cyanosis, Pulmonary hemorrhage, Bloody bronchoalveolar lavage fluid, Nodular pattern on pulmonary...	OMIM:233450
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Pulmonary arterial hypertension, Palmoplantar cutis laxa, Respiratory distress, Central apnea, Re...	OMIM:616482
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Sickle Cell Disease	Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Hemat...	OMIM:603903
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment	ORPHA:529808
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Aplasia of the uterus, Horse...	ORPHA:3109
Primary Myelofibrosis	Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphaden...	ORPHA:824
Erythrocytosis, Familial, 1	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly	OMIM:133100
Deafness-Lymphedema-Leukemia Syndrome	Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegaly, Myeloproli...	ORPHA:3226
Transaldolase Deficiency	Hepatic fibrosis, Cirrhosis, Anemia, Pancytopenia, Hepatosplenomegaly, Micronodular cirrhosis, He...	OMIM:606003
Carnitine-Acylcarnitine Translocase Deficiency	Respiratory insufficiency, Cyanosis, Sudden episodic apnea	ORPHA:159
Inhalational Anthrax	Dyspnea, Respiratory distress	ORPHA:247257
46,Xx Sex Reversal 2	Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest...	OMIM:278850
Late-Infantile/Juvenile Krabbe Disease	EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D...	ORPHA:206443
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly	ORPHA:163596
Nasolacrimal Duct Cyst	Abnormal breath sound, Intercostal retractions, Paroxysmal dyspnea, Stridor, Episodic respiratory...	ORPHA:141083
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Acrocyanosis	ORPHA:1867
Renal-Hepatic-Pancreatic Dysplasia 1	Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Renal insufficiency, ...	OMIM:208540
Rodrigues Blindness	Nasal flaring, Ectodermal dysplasia	OMIM:268320
Cholestasis, Progressive Familial Intrahepatic, 2	Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal...	OMIM:601847
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Renal insufficiency, Pe...	OMIM:263200
Arnold-Chiari Malformation Type Ii	Apnea, Cyanosis, Pneumonia, Inspiratory stridor	ORPHA:1136
Agnathia-Otocephaly Complex	Tracheomalacia, Pulmonary hypoplasia, Respiratory distress	OMIM:202650
Eosinophilic Granulomatosis With Polyangiitis	Respiratory insufficiency, Abnormal pleura morphology, Asthma, Purpura, Acrocyanosis, Cutis marmo...	ORPHA:183
Synaptic Congenital Myasthenic Syndromes	Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ...	ORPHA:98915
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Esophageal Atresia	Cyanosis, Bronchitis, Aspiration, Respiratory distress, Chronic pulmonary obstruction, Laryngotra...	ORPHA:1199
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb...	OMIM:226990
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy	OMIM:616881
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia	ORPHA:314655
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency

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Gene: Ror1 MGI:1347520

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lacZ Expression

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Human diseases caused by Ror1 mutations