Gene Summary

Name:
glutamate receptor, ionotropic, NMDA1 (zeta 1)
Synonyms:
M100174,  Nmdar,  GluRzeta1,  NR1,  Rgsc174,  NMDAR1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating potassium level Grin1tm1a(EUCOMM)Wtsi HET Early adult 4.28×10-05
increased circulating creatinine level Grin1tm1a(EUCOMM)Wtsi HET Early adult 2.25×10-05
thrombocytopenia Grin1tm1a(EUCOMM)Wtsi HET Early adult 5.35×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

View all 105 images

Human diseases caused by Grin1 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 Grin1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Dystonia, Self-injurious behavior, Poor eye contact, Inability to walk, Sp... OMIM:617820
Bilateral Generalized Polymicrogyria
Dystonia, Self-injurious behavior, Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyelid... ORPHA:208447
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Self-injurious behavior, Chorea, Stereotypy, Eyelid myoclonus, Spasticity, Oculogyric c... ORPHA:178469
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Self-injurious behavior, Chorea, Myoclonus, Inability to walk, Hyperkinetic movements, ... OMIM:614254

The table below shows human diseases predicted to be associated to Grin1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions OMIM:618830
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608631
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Shyness, Gait ataxia OMIM:618221
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions, Stereotypy OMIM:606053
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300425
Autism
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:209850
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608636
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity OMIM:300830
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Myasthenic Syndrome, Congenital, 6, Presynaptic
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... OMIM:254210
Asbestos Intoxication
Right ventricular failure, Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea,... ORPHA:2302
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Bronchopulmonary Dysplasia
Right ventricular failure, Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system phys... ORPHA:70589
Joubert Syndrome 33
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Apnea OMIM:617767
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Apnea, Abnormal brainstem morphology, Ataxia, Spast... ORPHA:99852
Developmental And Epileptic Encephalopathy 56
Anxiety, Attention deficit hyperactivity disorder, Ataxia, Broad-based gait OMIM:617665
Azotemia, Familial
Azotemia OMIM:109160
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Seizures, Benign Familial Infantile, 3
Cyanosis, Normal interictal EEG, Apnea OMIM:607745
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Choking episodes, Cough, Impaired oropharyngeal swallow r... ORPHA:2004
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... OMIM:605809
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Impaired social interactions OMIM:617051
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Seizures, Benign Familial Infantile, 1
Cyanosis, Normal interictal EEG, Apnea OMIM:601764
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Recurrent Respiratory Papillomatosis
Wheezing, Syncope, Dysphagia, Stridor, Respiratory insufficiency, Tachypnea, Choking episodes, Up... ORPHA:60032
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Dystonia, Central apnea, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia... ORPHA:71277
Perching Syndrome
Respiratory distress, Dysphagia OMIM:617055
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... OMIM:615872
Rowley-Rosenberg Syndrome
Hypertension, Pulmonary arterial hypertension, Reduced subcutaneous adipose tissue, Recurrent pne... OMIM:268500
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Death in infancy, Neonatal respiratory distress, Tachypnea... OMIM:265120
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypertension, Hypoxemia, Crackles, Bronchiectasis, Tac... ORPHA:79126
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300495
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Bradycardia, Tachycardia, Respiratory tract infection, Pulmonary... ORPHA:70587
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... OMIM:619191
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Death in infancy, Neonatal respiratory distress, Nonspecif... OMIM:610921
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation OMIM:137580
Obesity, Hyperphagia, And Developmental Delay
Obesity, Poor eye contact, Stereotypy OMIM:613886
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Pulmonary insufficiency, Atelectasis, Transient pulmonary infiltrates, Pneum... ORPHA:70588
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Impaired social interactions, Hyperkinetic movements, Stereotypical hand... ORPHA:397933
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lowe... OMIM:616726
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cough, Respiratory distress, Cyanosis, Respiratory failure OMIM:263000
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Involuntary movements, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Pulmonary Blastoma
Cough, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Pontocerebellar Hypoplasia Type 4
Central apnea, Myoclonus, Hypoplasia of the brainstem, Hypertonia, Respiratory failure requiring ... ORPHA:166063
Mitochondrial Complex I Deficiency, Nuclear Type 2
Dystonia, Apnea, Difficulty walking, Respiratory insufficiency OMIM:618222
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Dopa-Responsive Dystonia
Irritability, Panic attack, Abnormal social behavior, Anxiety, Oculogyric crisis, Lethargy, Gait ... ORPHA:255
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions, Reduced for... ORPHA:91359
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Hypsarrhythmia OMIM:616341
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Laryngeal Abductor Paralysis
Cyanosis, Stridor, Dysphagia OMIM:150260
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Dysphagia, Respiratory insufficiency, Respiratory failure, Respiratory distress, Restrictive vent... OMIM:614399
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneu... ORPHA:2902
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Apnea, Fatigable weakness OMIM:614198
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Atelectasis, Recurrent bronchitis OMIM:300455
Epilepsy, Early-Onset, Vitamin B6-Dependent
Clonus, Respiratory insufficiency, Apnea, Myoclonus, Hypertonia OMIM:617290
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... OMIM:267450
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism, Warfarin-induced skin necrosis OMIM:176860
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Aggressive behavior, Simplified gyral pattern, Pachygyria, Hyp... OMIM:604317
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Shyness, Babinski sign, Spastic dysarthria, Stereotypy, Waddling gait, Spasticity, Over... ORPHA:280763
Succinic Acidemia
Respiratory distress OMIM:600335
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Pyknoachondrogenesis
Stillbirth OMIM:265880
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough ORPHA:60026
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Poor eye contact, Tremor, Hyperactivity, Ataxia, Spasticity OMIM:300983
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Pontocerebellar Hypoplasia, Type 11
Happy demeanor, Poor coordination, Poor eye contact, Stereotypy, Ataxia, Inability to walk, Decre... OMIM:617695
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
N-Acetylaspartate Deficiency
Self-mutilation, Stereotypy, Truncal ataxia, Unsteady gait, Decreased body weight OMIM:614063
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Elevated bronchoalveolar lavage flu... OMIM:610978
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Respiratory distress OMIM:619099
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Apnea OMIM:618235
Atypical Rett Syndrome
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Tongue thrusting, Poor eye con... ORPHA:3095
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Stereotypy DECIPHER:8
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Stereotypy, Irritability, Spasticity, Difficulty walking OMIM:617393
Pleural Mesothelioma
Dysphagia, Abnormal respiratory system physiology, Cough, Respiratory distress, Dyspnea, Pleural ... ORPHA:50251
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory insufficiency, Hypertonia, Respiratory failure OMIM:611722
Hsd10 Disease
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Abnormal social behavior,... ORPHA:391417
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Respiratory distress,... ORPHA:1302
Liddle Syndrome 3
Hypokalemia OMIM:618126
Leukodystrophy, Hypomyelinating, 4
Progressive spasticity, Babinski sign, Apnea, Choreoathetosis OMIM:612233
Spinocerebellar Ataxia 14
Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioration, Attention deficit... OMIM:605361
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency, Rigidity OMIM:613869
Foxg1 Syndrome
Dystonia, Choreoathetosis, Myoclonus, Poor eye contact, Stereotypy, Inability to walk, Decreased ... ORPHA:561854
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Gaucher Disease Type 2
Respiratory distress, Dysphagia, Cough, Abnormal pattern of respiration ORPHA:77260
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Hypoxemia, Pulmonary capillary hemangiomatosis, Centrilobular ground-g... ORPHA:199241
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Inability to walk, Aggressive behavior OMIM:619639
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Recurrent upper respir... ORPHA:922
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Dystonia, Respiratory insufficiency, Spastic tetraplegia, Ataxia, Tetraparesis, Abnormal brainste... ORPHA:263410
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608049
Choanal Atresia
Choking episodes, Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Ab... ORPHA:137914
Joubert Syndrome 7
Central apnea, Brainstem dysplasia, Tachypnea, Episodic tachypnea, Ataxia, Oculomotor apraxia, Hy... OMIM:611560
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Stereotypy OMIM:300271
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectious pneumonia, Restrict... ORPHA:264675
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Self-injurious behavior, Obesity, Aggressive behavior, Speech aprax... OMIM:613670
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness OMIM:618010
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... ORPHA:79127
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Dystonia, Self-injurious behavior, Poor eye contact, Inability to walk, Sp... OMIM:617820
Mitochondrial Complex I Deficiency, Nuclear Type 10
Dysphagia, Dysmetria, Apnea, Ataxia, Central hypoventilation, Respiratory failure OMIM:618233
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defe... OMIM:610910
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Aggressive behavior, Stereotypy, Hyperactivity, Anx... OMIM:609425
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Rigidity, Neonatal death, Apnea, Ataxia, Spasticity, Respiratory failure OMIM:610127
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Pneumonia, Bronchiectasis, Reduced forced expiratory volume ... ORPHA:1303
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
No social interaction, Impaired social interactions ORPHA:329249
Pontocerebellar Hypoplasia, Type 6
Upper limb spasticity, Atrophy/Degeneration affecting the brainstem, Apnea, Lower limb spasticity... OMIM:611523
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Spinocerebellar Ataxia Type 1
Impaired proprioception, Gait disturbance, Dysphagia, Postural tremor, Gait imbalance, Dystonia, ... ORPHA:98755
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Dystonia, Apnea, Spasticity OMIM:616277
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... ORPHA:3348
Intellectual Developmental Disorder, Autosomal Recessive 58
Choreoathetosis, Self-injurious behavior, Aggressive behavior, Stereotypy, Spastic diplegia OMIM:617270
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612926
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Fatiguable weakness of proximal limb muscles, Dysphagia, Cough, Abnormal peripheral action potent... ORPHA:90117
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Centrilobular ground-glass opacification on pulmonary HRCT, Interlobu... OMIM:265450
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Mohr-Tranebjaerg Syndrome
Dystonia, Dementia, Optic atrophy, Abnormality of somatosensory evoked potentials, Oromandibular ... ORPHA:52368
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait OMIM:619470
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Poor eye contact, Abnormal social behavior, Anxiety, Attention deficit hyperactivity dis... ORPHA:444002
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia, Postnatal growth retardation, Short stature OMIM:616113
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dystonia, Dysphagia, Babinski sign, Respiratory insufficiency, Apnea, Ataxia, Lethargy OMIM:618226
Bronchogenic Cyst
Dysphagia, Pneumonia, Bronchogenic cyst, Cough, Abnormal pleura morphology, Pulmonary cyst, Dyspn... ORPHA:2357
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Short stature, Abdominal obesity, Truncal obesity OMIM:618160
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Dysphagia, Bronchiolitis, Exertional dyspnea, Pulmonary fibrosis, Right bundle branch block, Atel... ORPHA:254361
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Stereotypy, Hyperactivity, Ataxia, Spasticity, Impaired social interactions OMIM:610042
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia OMIM:133180
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Choreoathetosis, Self-injurious behavior, Stereotypy, Ataxia, In... OMIM:618218
Childhood Disintegrative Disorder
Anxiety, Impaired social interactions, Abnormal emotion/affect behavior, Stereotypy ORPHA:168782
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonus, Apnea, Lethargy OMIM:618225
Intellectual Developmental Disorder, X-Linked 109
Poor coordination, Aggressive behavior, Hyperactivity, Stereotypical body rocking, Recurrent hand... OMIM:309548
Malaria
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia ORPHA:673
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Tachypnea, Cough, Decreased DLCO, Restrictive ventilatory defect, Dyspnea OMIM:616414
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Creutzfeldt-Jakob Disease
Dementia, Apathy, Irritability, Anxiety, Depression, Memory impairment OMIM:123400
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Atrophy/Degeneration affecting the brainstem, Gait ataxia, Babinski sign OMIM:616192
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Poor coordination, Paroxysmal dyskinesia, Aggressive behavior, Chorea, Falls, Stereotyp... OMIM:619150
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Burning Mouth Syndrome
Abnormality of somatosensory evoked potentials, Abnormal fifth cranial nerve morphology ORPHA:353253
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Hyperactivity, Stereotypical body rocking, Recurrent hand flapping ORPHA:100973
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Difficulty walking, Respiratory insufficiency OMIM:617239
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Benign Familial Neonatal Epilepsy
Clonus, Apnea, Circumoral cyanosis, Limb myoclonus ORPHA:1949
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Peripheral demyelination, Decreased nerve conduction velocity, Cyanosis,... OMIM:252320
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Respiratory distress, Cyan... ORPHA:2414
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia, Stereotypy OMIM:239500
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Cyanosis, Decreased miniature endplate potent... ORPHA:98913
Thyroid Lymphoma
Dysphagia, Stridor, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:97285
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Poor eye contact, Intention tremor, Ataxia, Impaired social interactions, Attention deficit hyper... ORPHA:137831
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Abnorma... ORPHA:724
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Attention deficit hyperactivity disorder, Stereotypy OMIM:618709
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Apathy, Frontotemporal dementia, Motor deterioration, Anxiety, ... ORPHA:412066
Benign Familial Infantile Epilepsy
Interictal epileptiform activity, Cyanosis, Normal interictal EEG, Apnea ORPHA:306
Arnold-Chiari Malformation Type Ii
Abnormality of the medulla oblongata, Dysphagia, Opisthotonus, Inspiratory stridor, Pneumonia, Pa... ORPHA:1136
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia OMIM:617243
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Death in infancy, Apnea, Tremor, Hypertonia, Respiratory failure OMIM:617248
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Honeycomb lung, Crackles, Bronchiectasis, Ground-glass opacification, Co... ORPHA:2032
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Decreased DLCO, Restrictive ventilator... OMIM:300770
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Gait disturbance, Difficulty walking, Poor eye contact ORPHA:505652
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Dystonia, Falls, Bradykinesia ORPHA:240085
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Early-Onset Schizophrenia
Shyness, Unhappy demeanor, Suicidal ideation, Decreased female libido, Lack of peer relationships... ORPHA:96369
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis OMIM:612336
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... OMIM:234810
Myasthenic Syndrome, Congenital, 24, Presynaptic
Oculomotor apraxia, Dysphagia, Apnea, Respiratory insufficiency OMIM:618198
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Stereotypy, Attention de... ORPHA:449291
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Cerebral ischemia, Abnormal onset of bleeding ORPHA:3325
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Babinski sign, Clonus, Death in infancy, Myoclonic spasms, Rigidity, Apnea, Hypertonia OMIM:614498
Juvenile Huntington Disease
Dystonia, Dementia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ata... ORPHA:248111
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Respiratory distress, Erythema, Upper airway obstruction ORPHA:100057
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Emphysema, Chronic bronchitis OMIM:130700
Lamb-Shaffer Syndrome
Stereotypy, Hyperactivity, Ataxia, Upper motor neuron dysfunction, Abnormal social behavior ORPHA:530983
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Dysphagia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respirato... ORPHA:254875
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, Poor coordination, Tremor, Ataxia, Recurrent hand flapping, Impaired social int... ORPHA:544254
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Babinski sign, Choreoathetosis, Apnea, Upper limb hypertonia, Impaired oroph... ORPHA:2524
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy, Stereotypical hand wringing, Spasticity ORPHA:500545
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity ORPHA:101039
Pulmonary Arteriovenous Malformation
Hypoxemia, Telangiectasia, Palpitations, Epistaxis, Pulmonary arterial hypertension, Pulmonary he... ORPHA:2038
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Abulia, Aggressive behavior, Apathy, Abnormality of extrapyramidal motor functi... ORPHA:275864
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Spinocerebellar Ataxia Type 29
Delayed social development, Dysmetria, Intention tremor, Ataxia, Oculomotor apraxia, Dysdiadochok... ORPHA:208513
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Developmental And Epileptic Encephalopathy 58
Spastic diplegia, Inability to walk, Stereotypy OMIM:617830
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect... ORPHA:60025
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... OMIM:241150
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Respiratory distress, Respiratory insufficiency due to muscle weakness... OMIM:300580
Hereditary Central Diabetes Insipidus
Irritability, Polydipsia ORPHA:30925
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia, Simplified gyral pattern OMIM:613402
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Pontocerebellar Hypoplasia, Type 16
Dysphagia, Limb hypertonia, Hypoplasia of the pons, Apnea, Abnormality of extrapyramidal motor fu... OMIM:619527
Folinic Acid-Responsive Seizures
Dystonia, Chorea, Apnea, Spastic tetraparesis, Ataxia, Hypertonia, Respiratory distress, Broad-ba... ORPHA:79097
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Optic atrophy, Death in childhood OMIM:615597
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Thrombocytopenia, Decreased serum creatinine, Microangiopathic hemolytic anemia ORPHA:54057
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Stereotypy OMIM:615541
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:603552
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Happy demeanor, Poor eye contact, Stereotypy, Spasticity, Unsteady gait, Gait ataxia, D... OMIM:617807
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Cognitive impairment, Anxiety, Depression, Memory impairment ORPHA:401901
Monosodium Glutamate Sensitivity
Dyspnea, Flushing OMIM:231630
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Ethylmalonic Encephalopathy
Petechiae, Abnormality of extrapyramidal motor function, Acrocyanosis, Ataxia, Abnormal brainstem... ORPHA:51188
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Self-injurious behavior, Chorea, Inability to walk, Stereotypical hand wringing OMIM:618760
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea, Dysmetria, Spastic gait, Spastic paraplegia, Gait ataxia OMIM:615031
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Lower ... ORPHA:3077
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal ... OMIM:615924
Joubert Syndrome 9
Oculomotor apraxia, Molar tooth sign on MRI, Apnea, Episodic tachypnea OMIM:612285
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Dystonia, Babinski sign, Choreoathetosis, Spastic gait, Apnea, Shuffling gait, Bradykinesia, Spas... OMIM:300055
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... OMIM:178550
Nemaline Myopathy 2
Gait disturbance, Dysphagia, Frequent falls, Steppage gait, Respiratory insufficiency due to musc... OMIM:256030
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Babinski sign, Rigidity, Aggressive behavior, Myoclonus, Apathy, Ster... OMIM:600795
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration ORPHA:275555
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Stridor,... ORPHA:98914
Congenital Myasthenic Syndrome
Respiratory arrest, Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Stridor,... ORPHA:590
Myoclonus, Intractable, Neonatal
Athetosis, Dysphagia, Chorea, Myoclonus, Apnea OMIM:617235
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis, Opisthotonus, Hypertonia OMIM:250800
Anaplastic Thyroid Carcinoma
Dysphagia, Stridor, Cough, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:142
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... ORPHA:411703
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Cognitive impairment, Ataxia, Emotional lability, Attention deficit hyperactivity diso... OMIM:614306
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Neonatal ... OMIM:608629
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia, Atelectasis ORPHA:896
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Respiratory distress, Lethargy ORPHA:26792
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis OMIM:607665
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Apnea, ... ORPHA:2257
Hyperglycinemia, Lactic Acidosis, And Seizures
Myoclonus, Apnea, Respiratory insufficiency, Spastic tetraplegia OMIM:614462
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Stereotypy, Tremor, Hyperactivity, Inability to walk, Spasticity OMIM:618718
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Ataxia, Impaired pain sensation ORPHA:1532
Early-Onset Autosomal Dominant Alzheimer Disease
Myoclonus, Ataxia, Hypertonia, Oculomotor apraxia, Apraxia, Abnormal social behavior, Parkinsonism ORPHA:1020
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic an... OMIM:611590
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Cough, Cyanosis, Decreased DLCO, Restrictive ventilato... ORPHA:747
Hyperekplexia 3
Hypertonia, Apnea, Exaggerated startle response OMIM:614618
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dysphagia, Myoclonic spasms, Poor motor coordination, Apnea, Stereotypy, Loss of abil... ORPHA:79264
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia OMIM:616435
Idiopathic Bronchiectasis
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Red... ORPHA:60033
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Progressive sensori... OMIM:125250
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly ORPHA:721
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea ORPHA:178320
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Hypsarrhythmia OMIM:618006
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy OMIM:237310
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... OMIM:178500
Cerebral Creatine Deficiency Syndrome 1
Gait disturbance, Dystonia, Failure to thrive, Poor hand-eye coordination, Aggressive behavior, S... OMIM:300352
Primary Dystonia, Dyt4 Type
Gait disturbance, Torticollis, Laryngeal dystonia, Respiratory distress, Dysdiadochokinesis, Gene... ORPHA:98805
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea OMIM:615228
Joubert Syndrome 27
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:617120
Gaucher Disease, Type Ii
Dysphagia, Recurrent aspiration pneumonia, Rigidity, Apnea, Oculomotor apraxia, Spasticity OMIM:230900
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Respiratory distress, Cyanosis ORPHA:464453
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... ORPHA:36238
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Pulmonary situs ambiguus, Neonatal respiratory distress, Bronchiectas... ORPHA:244
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, Hyperactivity, Personality disorder, Mental deterioration ORPHA:2382
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertrig... OMIM:613101
X-Linked Centronuclear Myopathy
Fatigable weakness of bulbar muscles, Pneumonia, Respiratory distress, Fatigable weakness of swal... ORPHA:596
Childhood Absence Epilepsy
Limb myoclonus, Punding, Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder ORPHA:64280
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Dystonia, Babinski sign, Frequent falls, Progressive gait ataxia, Intention tremor, D... ORPHA:309263
Joubert Syndrome 30
Tachypnea, Molar tooth sign on MRI, Apnea OMIM:617622
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Developmental And Epileptic Encephalopathy 67
Athetosis, Gait disturbance, Poor eye contact OMIM:618141
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Episodic ata... OMIM:312170
Adult Krabbe Disease
Clumsiness, Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal pons mor... ORPHA:206448
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Hyperactivity, Ataxia, Oculomotor apraxia... OMIM:612716
Pick Disease Of Brain
Apathy, Stereotypy, Emotional blunting, Irritability, Diminished motivation OMIM:172700
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Dysmetria, Central apnea, Gait ataxia ORPHA:320385
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... OMIM:614370
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Respiratory insufficiency, Rigidity, Myoclonus, Apnea, Central hypoventilation OMIM:300673
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... ORPHA:99103
Myopathy And Diabetes Mellitus
Respiratory distress, Progressive cerebellar ataxia, Inability to walk, Tip-toe gait ORPHA:2596
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Myoclonus, Poor eye contact, Stereotypy ORPHA:411986
Late-Infantile/Juvenile Krabbe Disease
Gait disturbance, Loss of ambulation, Decreased nerve conduction velocity, Tremor, Ataxia, Prolon... ORPHA:206443
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Huntington Disease-Like 2
Dementia, Apathy, Irritability, Anxiety, Depression OMIM:606438
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology ORPHA:91412
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Hearing impairment OMIM:600501
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Self-injurious behavior, Chorea, Stereotypy, Inability to walk, Stereotypical hand wrin... OMIM:618917
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Stridor, Abnormal pattern of respiration, Apnea, Cardiorespiratory arrest, Bronchospasm, Tongue f... OMIM:608800
Leigh Syndrome With Leukodystrophy
Dystonia, Apnea, Progressive cerebellar ataxia, Spasticity, Progressive spastic paraplegia ORPHA:255241
Potocki-Lupski Syndrome
Small for gestational age, Failure to thrive, Poor eye contact, Stereotypy, Hyperactivity OMIM:610883
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Cerebral palsy, Aggressive behavior, Self-mutilation, Poor eye contact, Lower limb ... ORPHA:163681
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Failure to thrive, Male hypogonadism, Impaired social interaction... ORPHA:163976
Breath-Holding Spells
Cyanosis OMIM:607578
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Dystonia, Babinski sign, Frequent falls, Progressive gait ataxia, Decerebrate rigidit... ORPHA:309256
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Cyanosis, Apnea, EEG abnormality OMIM:261680
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Central sleep apnea, Spasticity, Respiratory failure ORPHA:168486
Liddle Syndrome
Hypokalemia ORPHA:526
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy, Atelectasis OMIM:300219
Oromandibular Dystonia
Lingual dystonia, Torticollis, Laryngeal dystonia, Respiratory distress, Generalized dystonia, Bl... ORPHA:93958
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Paresthesia OMIM:615361
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hyperactiv... ORPHA:352490
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Microangiopathic hemolytic anemia, Hyperlipidemia, Elevated circulating creatinin... OMIM:235400
Chiari Malformation Type Ii
Dysphagia, Opisthotonus, Ataxia, Cyanosis, Inspiratory stridor OMIM:207950
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial palsy OMIM:617519
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Spinocerebellar Ataxia Type 17
Involuntary movements, Gait disturbance, Dystonia, Parkinsonism, Rigidity, Writer's cramp, Tortic... ORPHA:98759
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal respiratory system physiology, Third heart sound, Exertional dyspnea, Abnormall... ORPHA:99106
Central Diabetes Insipidus
Anxiety, Depression, Polydipsia ORPHA:178029
Slc35A1-Cdg
Hypoxemia, Respiratory distress, Pneumonia, Subcutaneous hemorrhage ORPHA:238459
Hereditary Methemoglobinemia
Athetosis, Spastic tetraplegia, Exertional dyspnea, Cyanosis, Hypertonia, Spasticity, Limb dystonia ORPHA:621
Atrial Septal Defect, Coronary Sinus Type