Gene Summary

Name:
kinesin family binding protein
Synonyms:
2510003E04Rik,  Kif1bp

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
preweaning lethality, complete penetrance Kifbptm1a(KOMP)Wtsi HOM   Early adult 0.00
increased circulating chloride level Kifbptm1a(KOMP)Wtsi HET Early adult 1.81×10-19

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

Anti-nuclear antibody assay

Images

6 Images

Ear epidermis immunophenotyping

Images

12 Images

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Von Hippel-Lindau Disease
Stroke, Myocarditis, Myocardial infarction, Elevated circulating catecholamine level, Adrenal phe... ORPHA:892
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Primary microcephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:171703
Benign Schwannoma
Abnormality of the adrenal glands, Vestibular schwannoma, Facial palsy, Abnormality of the twelft... ORPHA:252164
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Papillary cystadenoma of the epididymis, Pheochromocytoma, Paragangliom... OMIM:193300
Phosphoserine Aminotransferase Deficiency
Apnea, Secondary microcephaly, Death in infancy, Cyanotic episode OMIM:610992
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Hypoplasia of the corpus callosum, Abnormal mucociliary clearance, Lissence... OMIM:619466
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Breast carcinoma, Micropenis, Hypospadias, Melanoma, Vaginal neoplasm, ... ORPHA:1916
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Abnormality of the anterior commissure, Agenesis of corpus callosum OMIM:617542
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Umbilical hernia, Pneumonia OMIM:254120
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Bullous Dystrophy, Hereditary Macular Type
Microcephaly, Death in childhood, Acrocyanosis OMIM:302000
Floating-Harbor Syndrome
Wide mouth, Hirsutism, Cryptorchidism, Hypospadias, Short philtrum, Glandular hypospadias, Genera... OMIM:136140
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Failure to thrive, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Chronic Pneumonitis Of Infancy
Respiratory distress, Failure to thrive, Cyanosis, Tachypnea, Cough, Intercostal retractions, Red... ORPHA:91359
Cryptogenic Organizing Pneumonia
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Wheezing, Pneumothorax, Cough, Res... ORPHA:1302
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Small for gestational age, Abnormal respiratory system physiol... ORPHA:70589
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Cyanosis ORPHA:91130
Arnold-Chiari Malformation Type I
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Myelopathy, Abnormality of ... ORPHA:268882
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hereditary Methemoglobinemia
Temporal cortical atrophy, Small basal ganglia, Frontal cortical atrophy, Small for gestational a... ORPHA:621
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Cyanosis, Inspiratory stridor, Spina bifida, Agenesis of corpus ... OMIM:207950
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Basal ganglia gliosis, Death in infancy, Neuronal loss in basal ganglia OMIM:604377
Floating-Harbor Syndrome
Wide mouth, Precocious puberty, Persistence of primary teeth, Cryptorchidism, Hypospadias, Short ... ORPHA:2044
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Surfactant Metabolism Dysfunction, Pulmonary, 1
Failure to thrive, Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respira... OMIM:265120
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Failure to thrive, Apnea, Nonspecific interstitial pneumonia, Cyanosis, Neo... OMIM:610921
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive OMIM:615595
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate ute... OMIM:137920
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Respiratory failure requir... ORPHA:264675
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal basal ganglia morphology, Small basal ganglia, Normal pressure hydrocephalus, Large basa... ORPHA:300570
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormal epididymis morphology, Abnormal penis morphology, Abnormality of the s... ORPHA:457083
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Abnormal corpus striatum morphology ORPHA:238329
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive, Microcephaly, Hypoplasia of the corpus callosum OMIM:300934
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... OMIM:619751
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Pleural Mesothelioma
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology, W... ORPHA:50251
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis, Hypoventilation OMIM:257500
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Nonproductive cough, Cyanosis, Reduced f... ORPHA:2302
Recurrent Respiratory Papillomatosis
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... ORPHA:60032
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Failure to thrive, Nonspecific interstitial pneumonia, Cyanosis, Respirator... OMIM:610913
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Microcephaly, Respiratory failure ORPHA:1832
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Primary Pulmonary Hypoplasia
Failure to thrive, Apnea, Asthma, Microcephaly, Cyanosis, Tachypnea, Pneumothorax, Abnormal breat... ORPHA:2257
Classic Glucose Transporter Type 1 Deficiency Syndrome
Progressive microcephaly, Cyanosis, Central apnea ORPHA:71277
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight, Respiratory insufficiency due to muscle weakness OMIM:300580
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Perching Syndrome
Respiratory distress OMIM:617055
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity OMIM:615993
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Failure to thrive, Respiratory insufficiency, Restrictive ventilatory defec... OMIM:614399
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Apnea, Hydrocephalus, Aqueductal stenosis, Cyanosis, Cortical dysplasia, Polymi... ORPHA:1136
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... ORPHA:2414
Familial Multiple Nevi Flammei
Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Abnormal cra... ORPHA:624
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Failure to thrive, Microcephaly ORPHA:26792
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Cerebral cortical atrophy, Dysplastic corpus call... ORPHA:488627
Laryngotracheoesophageal Cleft
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor ORPHA:2004
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the corpus c... ORPHA:89844
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cyanotic episode, Lateral ventricle dilatation, Lissencephaly,... ORPHA:284417
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Klippel-Trénaunay Syndrome
Hepatomegaly, Peripheral arteriovenous fistula, Hemangioma, Hydrops fetalis, Pulmonary embolism, ... ORPHA:90308
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Abnormal basal ganglia MRI signal intensity, Cyanosis, Stridor, Paroxysmal dys... ORPHA:444013
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Cerebral white matter atrophy, Death in infancy, Neonatal respiratory distr... OMIM:615042
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia OMIM:301060
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Decreased DLCO, Cough, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Dyspnea OMIM:610910
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Weight loss, Cachexia OMIM:612075
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Laryngeal Abductor Paralysis
Microcephaly, Stridor, Cyanosis OMIM:150260
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Microcephaly, Death in childhood, Failure to thrive OMIM:615597
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Cough, Decreased DLCO, Restrictive ventilatory defect, Hypoxemia, Dyspnea, We... ORPHA:747
Proteus Syndrome
Lymphangioma, Lipoma, Splenomegaly, Hemangioma, Multiple lipomas, Venous malformation, Open mouth OMIM:176920
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... ORPHA:1303
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:613090
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:95494
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... ORPHA:98913
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Failure to thrive, Microcephaly, Cerebral atrophy OMIM:618426
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Burning Mouth Syndrome
Parageusia, Xerostomia, Smooth tongue, Abnormal fifth cranial nerve morphology, Abnormality of ta... ORPHA:353253
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough ORPHA:77260
Encephalopathy, Ethylmalonic
Failure to thrive, Petechiae, Focal T2 hyperintense basal ganglia lesion, Death in infancy, Acroc... OMIM:602473
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Microcephaly, Cyanosis OMIM:250800
Succinic Acidemia
Respiratory distress OMIM:600335
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Milroy Disease
Hydrocele testis, Predominantly lower limb lymphedema, Varicose veins, Abnormal venous morphology... ORPHA:79452
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, High, narrow palate, EMG: myopathic abnormalities, Arterial dissection, Per... ORPHA:1900
Breath-Holding Spells
Cyanosis OMIM:607578
Acute Interstitial Pneumonia
Nonproductive cough, Cyanosis, Crackles, Tachypnea, Decreased DLCO, Pleural effusion, Bronchiecta... ORPHA:79126
Enlarged Parietal Foramina
Myelomeningocele, Cleft palate, Abnormal cerebral vein morphology, Multiple exostoses, Cleft lip,... ORPHA:60015
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Microcephaly, Hypoplasia of the corpus callosum, Abnormal cerebral white matte... OMIM:614407
Thymic Neuroendocrine Tumor
Prominent veins on trunk, Pituitary null cell adenoma, Pituitary adenoma, Increased circulating c... ORPHA:97289
Giant Axonal Neuropathy
Abnormality of the pituitary gland, Woolly hair, Limb muscle weakness, Pili canaliculi, Diffuse a... ORPHA:643
Parkes Weber Syndrome
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... ORPHA:90307
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction ORPHA:100057
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Nonproductive cough, Decre... ORPHA:79127
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Ne... ORPHA:137608
Capillary Malformation-Arteriovenous Malformation
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... ORPHA:137667
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Congenital Tracheomalacia
Failure to thrive, Apnea, Tracheomalacia, Decreased peak expiratory flow, Cyanosis, Respiratory i... ORPHA:95430
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
Mitochondrial Pyruvate Carrier Deficiency
Progressive microcephaly, Respiratory distress OMIM:614741
Pituicytoma
Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons... ORPHA:251623
Anaplastic Thyroid Carcinoma
Respiratory distress, Cough, Upper airway obstruction, Dyspnea, Weight loss, Stridor ORPHA:142
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Glossopharyngeal Neuralgia
Neoplasm, Cranial nerve compression, Jaw claudication, Syncope, Vascular dilatation, Bradycardia,... ORPHA:221098
Stt3B-Cdg
Respiratory distress, Failure to thrive, Microcephaly ORPHA:370924
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive, Microcephaly, Cerebral cortical atrophy OMIM:618201
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv... ORPHA:454836
Kaposi Sarcoma
Abnormality of the liver, Hemangioma, Lymphoproliferative disorder, Abnormality of the spleen, Ne... ORPHA:33276
Juvenile Polyposis Syndrome
Small intestinal polyposis, Arteriovenous malformation, Stomach cancer, Neoplasm of the small int... ORPHA:2929
Ethylmalonic Encephalopathy
Abnormal basal ganglia MRI signal intensity, Failure to thrive, Petechiae, Acrocyanosis ORPHA:51188
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive, Microcephaly ORPHA:261304
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Respiratory distress, Tachypnea ORPHA:45452
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress ORPHA:66637
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia, Agenesis of corpus callosum, Holoprosencephaly OMIM:202650
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Meconium Aspiration Syndrome
Respiratory distress, Aspiration pneumonia, Wheezing, Pneumothorax, Hypoxemia, Neonatal asphyxia,... ORPHA:70588
Tetrasomy 5P
Respiratory distress, Failure to thrive, Hydrocephalus, Cyanosis, Pulmonary arterial hypertension... ORPHA:3309
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Failure to thrive, Cerebral cortical atrophy, Cerebral atrophy, Microcephal... OMIM:619272
Harrod Syndrome
High palate, Dental malocclusion, Narrow mouth, External genital hypoplasia, High, narrow palate,... OMIM:601095
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Agenesis of corpus callosum, Holoprosencephaly ORPHA:990
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Malaria
Respiratory distress ORPHA:673
Familial Nasal Acilia
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea ORPHA:922
Gjc2-Related Late-Onset Primary Lymphedema
Predominantly lower limb lymphedema, Facial edema, Genital edema, Abnormal lymphatic vessel morph... ORPHA:568051
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age OMIM:616733
Triosephosphate Isomerase Deficiency
Respiratory distress, Failure to thrive, Cerebral atrophy, Respiratory insufficiency, Death in ad... OMIM:615512
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Failure to thrive, Telangiectasia, Secondary microcephaly OMIM:608799
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Frontotemporal cerebral atrophy ORPHA:79097
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Oxygen desaturation on exertion, Respiratory distress, Asthma, Crackles, Tachypnea, Wheezing, Cou... OMIM:610978
Sepsis In Premature Infants
Decreased body weight, Petechiae, Small for gestational age, Cyanosis, Abnormal respiratory syste... ORPHA:90051
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Microcephaly, Cough ORPHA:86812
Hsd10 Disease, Infantile Type
Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly, Cyanosis, Diffuse cerebral atr... ORPHA:391428
Pulmonary Arteriovenous Malformation
Hemothorax, Pleural empyema, Cyanosis, Cough, Pulmonary arterial hypertension, Hypoxemia, Dyspnea... ORPHA:2038
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Respiratory distress, Umbilical hernia, Prolonged neonatal jaundice ORPHA:226313
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 concentration, Facial edema, Macroglossia, Elevated circulating thyroid-... ORPHA:95717
Slc35A1-Cdg
Hypoxemia, Respiratory distress, Subcutaneous hemorrhage, Pneumonia ORPHA:238459
Pulmonary Capillary Hemangiomatosis
Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effusion, Hypox... ORPHA:199241
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Non-Acquired Panhypopituitarism
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:90695
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... ORPHA:98914
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Failure to thrive, Apnea, Central hypoventilation, Basal ganglia gliosis, A... ORPHA:70474
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Nonproductive cough, Cyanosis, Respiratory insufficiency, Tachyp... ORPHA:60025
Fg Syndrome Type 1
High palate, Wide mouth, Malrotation of colon, Anal atresia, Dental crowding, Small pituitary gla... ORPHA:93932
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Tricuspid Atresia
Cyanosis ORPHA:1209
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... OMIM:187300
Complete Atrioventricular Septal Defect
Failure to thrive, Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery p... ORPHA:1329
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive, Microcephaly, Hypoplasia of the corpus callosum ORPHA:544503
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency, Abnormal periventricular white matter morphology ORPHA:1145
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Stroke, Mitral regurgitation, Juvenile gastrointestinal polyp... OMIM:175050
Non-Functioning Pituitary Adenoma
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui... ORPHA:91349
Congenitally Uncorrected Transposition Of The Great Arteries
Failure to thrive, Small for gestational age, Cyanosis, Tachypnea, Hypoxemia ORPHA:860
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Aicardi-Goutieres Syndrome 1
Leukoencephalopathy, Acrocyanosis, Petechiae, Cerebral atrophy, Basal ganglia calcification, Micr... OMIM:225750
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, Cerebral atrophy OMIM:261680
Clapo Syndrome
Lymphangioma, Capillary malformation of the lip, Lymphedema, Venous malformation, Ganglioneuroma,... ORPHA:168984
X-Linked Centronuclear Myopathy
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation ORPHA:596
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:95716
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Failure to thrive, Cerebral white matter atrophy, Abnormal periventricular ... ORPHA:329178
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Leukoencephalopathy, Failure to thrive, Death in childhood, Exertional dysp... OMIM:220110
Marcus-Gunn Syndrome
Cleft lip, Abnormal fifth cranial nerve morphology, Cleft palate ORPHA:91412
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... OMIM:601678
Telangiectasia, Hereditary Hemorrhagic, Type 4
High-output congestive heart failure, Cerebral hemorrhage, Spinal arteriovenous malformation, Dil... OMIM:610655
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Paradoxical respiration OMIM:620011
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Cyanosis, Respiratory failure requiring assisted ventilation, Tachypne... ORPHA:555874
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Hydrocephalus, Probst bundles, Agenesis of corpus callosum OMIM:612863
Buerger Disease
Acrocyanosis ORPHA:36258
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Igg4-Related Ophthalmic Disease
Sialadenitis, Orchitis, Abnormality of the extraocular muscles, Pancreatitis, Prostatitis, Palpeb... ORPHA:449563
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Sleep apnea, Microcephaly, Hypoplasia of the corpus callosum, Hypoplastic anterior commissure OMIM:616975
Brain-Lung-Thyroid Syndrome
Respiratory distress, Failure to thrive, Asthma, Cavum septum pellucidum, Microcephaly, Recurrent... ORPHA:209905
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive, Microcephaly ORPHA:927
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive ORPHA:79312
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Holocarboxylase Synthetase Deficiency
Respiratory distress, Weight loss, Tachypnea ORPHA:79242
Phace Syndrome
Abnormal carotid artery morphology, Optic nerve hypoplasia, Ectopic thyroid, Tetralogy of Fallot,... ORPHA:42775
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia OMIM:606763
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Prominent superficial veins, Venous malformation, Edema ORPHA:75508
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Hypoplasia of the corpus callosum OMIM:617102
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Microcephaly, Severe failure to thrive, Cyanosis ORPHA:3304
Rubinstein-Taybi Syndrome 1
High palate, Cleft palate, Premature thelarche, Facial hypertrichosis, Long eyelashes, Shawl scro... OMIM:180849
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hypochloremia ORPHA:89938
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... OMIM:600376
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Failure to thrive, Microcephaly, Dyspnea, Respiratory failure ORPHA:2707
Structural Heart Defects And Renal Anomalies Syndrome
Partial agenesis of the corpus callosum, Microcephaly, Death in infancy, Cyanosis OMIM:617478
Panhypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95513
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Abnormal cerebral white matter morphology, Dyspne... ORPHA:330021
Atrial Septal Defect, Ostium Primum Type
Failure to thrive, Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypne... ORPHA:99106
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Abnormality of the dentition, Odontoma, Small intestine c... ORPHA:79665
Mitochondrial Complex I Deficiency, Nuclear Type 1
Leukoencephalopathy, Failure to thrive, Apnea, Focal T2 hypointense basal ganglia lesion, Microce... OMIM:252010
Meige Disease
Predominantly lower limb lymphedema, Facial edema, Edema of the dorsum of hands, Laryngeal edema,... ORPHA:90186
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy OMIM:300219
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Thin corpus callosum, Apnea, Microcephaly, Cyanosis OMIM:619580
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Decreased body weight, Petechiae, Microcephaly, Neonatal death, Purpura OMIM:608013
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Predominantly lower limb lymphedema, Yellow nails, Cleft palate, Arrhythmia, Tet... OMIM:153400
Livedoid Vasculopathy
Telangiectasia of the skin, Graves disease, Abnormal capillary morphology, Abnormality of the per... ORPHA:542643
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stridor OMIM:211530
Infantile Krabbe Disease
Respiratory distress, Failure to thrive, Cachexia, Diffuse cerebral atrophy, Abnormal periventric... ORPHA:206436
Histiocytoid Cardiomyopathy
Failure to thrive, Hydrocephalus, Cyanosis, Tachypnea, Cough, Agenesis of corpus callosum ORPHA:137675
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Jaundice, Small for gestational age, Tachypnea, Pneumon... ORPHA:26793
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... ORPHA:300385
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Palmoplantar cutis laxa, Hydrocephalus, Agenesis of corpus callosum OMIM:123790
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Abnormal globus pallidus morphology, Failure to thrive OMIM:251000
Craniofaciofrontodigital Syndrome
Respiratory distress, Palmoplantar cutis laxa, Large for gestational age, Prominent superficial v... ORPHA:363705
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Facial edema, Thyroid hypoplasia, Umbilical hernia, ... ORPHA:226307
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Intracranial hemorrh... ORPHA:91350
Hepatocellular Carcinoma
Neoplasm, Type II diabetes mellitus, Hepatomegaly, Abnormality of the hepatic vasculature, Hemobi... ORPHA:88673
Multiple Carboxylase Deficiency
Respiratory distress, Tachypnea ORPHA:148
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Respiratory insufficiency, Generalized abnormality of skin ORPHA:367
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive, Secondary microcephaly, Lissencephaly ORPHA:50810
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Microcephaly, Sudden episodic apnea, Cyanosis ORPHA:159
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pachygyria, Jaundice, Neonatal death OMIM:231680
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Predominantly lower limb lymphedema, Fibrosarcoma, Cleft palate, Arrhythmia, Dis... ORPHA:33001
Bartter Syndrome, Type 2, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Increased serum prostaglandin E2,... OMIM:241200
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Brittle hair, Everted lower lip vermilion, Alopecia, Coarse hair, Long philtrum, Posterior pituit... ORPHA:75389
Gangliocytoma
Abnormality of the pituitary gland, Pituitary null cell adenoma, Elevated circulating growth horm... ORPHA:251937
Renal Nutcracker Syndrome
Abnormal autonomic nervous system physiology, Vulval varicose vein, Orthostatic hypotension, Tach... ORPHA:71273
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Wide mouth, Abnormality of the tongue, Supernumerary tooth, A... ORPHA:314621
Double Outlet Right Ventricle
Failure to thrive, Cyanosis, Tachypnea ORPHA:3426
Menkes Disease
Malabsorption, Woolly hair, Sparse hair, Exostoses, Abnormal carotid artery morphology, Intracran... ORPHA:565
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:745
Crimean-Congo Hemorrhagic Fever
Melena, Hepatomegaly, Subdural hemorrhage, Hemoperitoneum, Hepatic failure, Hemothorax, Myocardit... ORPHA:99827
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95512
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Hepatomegaly, Complete heart block with narrow QRS comple... ORPHA:1677
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Tracheomalacia, Microcephaly, Neonatal respiratory distress, Agenesis of co... OMIM:217980
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis OMIM:608106
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Failure to thrive, Respiratory insufficiency, Respiratory failure requiring... ORPHA:308552
Eosinophilic Fasciitis
Weight loss, Acrocyanosis ORPHA:3165
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Lymphatic Malformation 6
Hydrocele testis, Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetal... OMIM:616843
Autosomal Dominant Spastic Paraplegia Type 10
Dupuytren contracture, Peripheral axonal neuropathy, Lower limb muscle weakness, Leg muscle stiff... ORPHA:100991
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Distichiasis, Patent ductus arteriosus, Pedal edema, Sinus bradycar... OMIM:126320
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cleft palate, Small pituitary gland, Micropenis, Decreased testicular size, Cryptorchidism OMIM:614880
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Meningioma
Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal hypothalamus ... ORPHA:2495
Proteus-Like Syndrome
Exostoses, Splenomegaly, Open bite, Hemangioma, Abnormality of the parathyroid gland, Thymus hype... ORPHA:2969
Waardenburg Syndrome Type 3
Microcephaly, Acrocyanosis, Tracheomalacia ORPHA:896
Myotonic Dystrophy 1
Respiratory distress, Cerebral atrophy OMIM:160900
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Venous insufficiency, Abnormal cerebral vascular morphology ORPHA:743
Thymic Carcinoma
Abnormal vena cava morphology, Palpebral edema, Neoplasm of the thymus, Edema ORPHA:99868
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Agenesis of corpus callosum, Aspiration OMIM:618733
Craniopharyngioma
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Abnormal hypo... ORPHA:54595
Congenital Fibrinogen Deficiency
Bruising susceptibility, Cyanosis, Subcutaneous hemorrhage ORPHA:335
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Cavum septum pellucidum, Respiratory distress, Hypoplasia of the corpus callosum OMIM:619383
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Abnormal cerebral white matter ... OMIM:164310
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Meckel Syndrome 14
Holoprosencephaly, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Occipital encephalocele OMIM:619879
Sheehan Syndrome
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... ORPHA:91355
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... ORPHA:1199
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Stroke, Lacunar stroke, Varicose veins OMIM:125310
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Abnormality of the dentition, S... ORPHA:733
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Urticaria, Sinusitis, Cutis marmorata, Respiratory insufficiency, Cough, Purpura, Weight ... ORPHA:183
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
High palate, Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Cleft lip, Cryptor... OMIM:612702
Classical-Like Ehlers-Danlos Syndrome Type 2
Prominent veins on trunk, High palate, Periodontitis, Premature loss of teeth, Narrow palate, Too... ORPHA:536532
Hereditary Bullous Dystrophy, Macular Type
Microcephaly, Acrocyanosis, Pneumonia ORPHA:1867
Scimitar Syndrome
Double outlet right ventricle, Hypoplasia of the diaphragm, Anomalous pulmonary venous return, Le... ORPHA:185
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
22Q11.2 Deletion Syndrome
Cholelithiasis, Cleft palate, Abnormality of the dentition, Short philtrum, Carious teeth, Optic ... ORPHA:567
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Dyspnea, Intermittent hyper... ORPHA:348
Atrial Septal Defect, Ostium Secundum Type
Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... ORPHA:99103
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hepatomegaly, Hypergonadotropic hypogonadism, Pancreatic hypoplasi... OMIM:602782
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Nasolacrimal Duct Cyst
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea... ORPHA:141083
Ethylene Glycol Poisoning
Episodic respiratory distress, Cyanosis, Tachypnea, Abnormal pattern of respiration, Cerebral edema ORPHA:31826
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Hypothyroidism Due To Tsh Receptor Mutations
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Macroglossia, Impair... ORPHA:90673
X-Linked Intellectual Disability, Nascimento Type
Wide mouth, Double outlet right ventricle, Peripheral pulmonary artery stenosis, Tetralogy of Fal... ORPHA:163956
H Syndrome
Cleft upper lip, Abnormal eyebrow morphology, Malabsorption, Gingival overgrowth, Hypertrichosis,... ORPHA:168569
Prader-Willi Syndrome
Stroke, Central adrenal insufficiency, External genital hypoplasia, Abnormality of the dentition,... ORPHA:739
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Respiratory insufficiency, Neonatal respiratory distress, Exer... ORPHA:98915
Dravet Syndrome
Cyanotic episode ORPHA:33069
Lymphatic Malformation 7
Facial edema, Pulmonary edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Varicose veins, Peri... OMIM:617300
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:226316
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Microcephaly, Pulmonary arterial hypertension, Hypoplasia of the corpus cal... ORPHA:2519
Hypermobile Ehlers-Danlos Syndrome
Abnormal palate morphology, Malabsorption, Gingival overgrowth, Tendon rupture, Decreased nerve c... ORPHA:285
Foix-Alajouanine Syndrome
Myelopathy, Lower limb muscle weakness, Arteriovenous fistula, Venous malformation, Distal lower ... ORPHA:79093
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation ORPHA:314655
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Abnormal eyebrow morphology, Cleft palate, Thin vermilion border, C... ORPHA:1106
Erythrocytosis, Familial, 2
Elevated circulating erythropoietin concentration, Stroke, Cerebral hemorrhage, Hemangioma, Hypot... OMIM:263400
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Leukoencephalopathy, Hydrocephalus, Failure to thrive, Cerebral atrophy, Ja... ORPHA:79282
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Facial edema... ORPHA:90674
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Von Willebrand Disease
Venous insufficiency ORPHA:903
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Increased pulm... ORPHA:99104
Neurotrophic Keratopathy
Corneal stromal edema, Abnormal fifth cranial nerve morphology, Diabetes mellitus ORPHA:137596
Goldberg-Shprintzen Megacolon Syndrome
Sparse scalp hair, Sparse eyebrow, Cleft palate, Bifid scrotum, Hypospadias, Aganglionic megacolon ORPHA:66629
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Cerebral calcification, Microcephaly, Death in childhood, Recurrent pneumonia OMIM:617303
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Hepatomegaly, Cleft palate, Splenomegaly, Pulmonic stenosis, Mitral regurgitation, H... OMIM:612541
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Episodic hypoventilation, Death in infancy OMIM:301790
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Central adrenal insufficiency, Increased circulating prolactin conce... ORPHA:91347
Diaphanospondylodysostosis
Respiratory distress, Respiratory insufficiency, Polymicrogyria, Tracheomalacia OMIM:608022
Tarp Syndrome
Failure to thrive, Cyanosis, Apnea, Abnormal corpus callosum morphology ORPHA:2886
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Criss-Cross Heart
Respiratory insufficiency, Cyanosis ORPHA:1461
Moebius Syndrome
Respiratory distress OMIM:157900
Japanese Encephalitis
Respiratory distress, Irregular respiration, Respiratory paralysis, Abnormality of the internal c... ORPHA:79139
Prolactinoma
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Elevated circulating ... ORPHA:2965
Kniest Dysplasia
Respiratory distress, Umbilical hernia, Tracheomalacia OMIM:156550
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Anomalous origin of the left ... ORPHA:3384
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Telangiectasia of the skin, Nephroblastoma, Multiple lipomas, Ovarian serous cy... ORPHA:276280
Rodrigues Blindness
Nasal flaring, Ectodermal dysplasia OMIM:268320
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Lipoma, Splenomegaly, Nephroblastoma, Spinal dysraphism, Venous malformation OMIM:612918
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Sparse hair, Scapular exostoses, Carious teeth, Myocardial infarction, Bilater... OMIM:150230
Poems Syndrome
Restrictive ventilatory defect, Pleural effusion, Weight loss, Pulmonary arterial hypertension, A... ORPHA:2905
Hereditary Angioedema Type 1
Respiratory distress, Urticaria, Dermatographic urticaria, Inspiratory stridor, Dyspnea ORPHA:100050
Unilateral Polymicrogyria
Perisylvian polymicrogyria, Apnea, Microcephaly, Cyanosis, Cortical dysplasia, Epistaxis ORPHA:268943
Pitt-Hopkins Syndrome
Failure to thrive, Sleep apnea, Small cerebral cortex, Microcephaly, Hyperventilation, Abnormal p... ORPHA:2896
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Absent eyebrow, Alopecia, Heart murmur, Abnormal vena cava m... ORPHA:166035
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Alopecia, Contracture of the proxim... ORPHA:2232
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hypochloremia, Hyponatremia ORPHA:90794
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Thin vermilion border, Short philtrum, Camptodactyly, Aortic dissection, Vascular dilatation, Den... OMIM:618343
Cryptococcosis
Respiratory distress, Hydrocephalus, Cerebral cortical atrophy, Cough, Pneumonia, Pleural effusio... ORPHA:1546
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Failure to thrive, Focal hypointensity of cerebral white matter on MRI, Large basal ganglia, Hypo... ORPHA:261552
Thoracic Outlet Syndrome
Varicose veins, Edema ORPHA:97330
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect, Cervical myelopathy OMIM:183900
Brucellosis
Abnormality of the liver, Transient ischemic attack, Orchitis, Hepatomegaly, Splenomegaly, Myocar... ORPHA:1304
Loeys-Dietz Syndrome 6
Carotid artery dilatation, High palate, Thoracic aortic aneurysm, Abdominal aortic aneurysm, Vert... OMIM:619656
Fucosidosis
Failure to thrive, Vascular skin abnormality, Acrocyanosis ORPHA:349
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, A... ORPHA:93111
Biotinidase Deficiency
Respiratory distress, Apnea, Myelopathy, Hyperventilation ORPHA:79241
Absence Of The Pulmonary Artery
Pulmonary edema, Systolic heart murmur, Tachycardia, Abnormal coronary artery morphology, Tetralo... ORPHA:980
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Purpura, Erythema, Acrocyanosis ORPHA:343
Liposarcoma
Sarcoma, Varicose veins ORPHA:69078
Lymphatic Filariasis
Hydrocele testis, Predominantly lower limb lymphedema, Orchitis, Urethral obstruction, Epididymit... ORPHA:2035
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Failure to thrive OMIM:251110
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Microcephaly, Recurrent pneumonia, Cerebral atrophy OMIM:616271
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Failure to thrive, Hydrocephalus, Absent septum pellucidum, Microcephaly, E... ORPHA:2556
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Capillary malformation of the lip, Lymphedema, Varicose veins, Venous malformation OMIM:613089
Lujo Hemorrhagic Fever
Respiratory distress, Nonproductive cough, Crackles, Purpura, Ecchymosis, Rhinitis, Cerebral edema ORPHA:319213
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Failure to thrive in infancy OMIM:612852
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Failure to thrive OMIM:251100
Adnp Syndrome
Respiratory distress, Focal white matter lesions, Cerebral atrophy, Microcephaly, Hypoplasia of t... ORPHA:404448
Shwachman-Diamond Syndrome 1
Respiratory distress, Failure to thrive, Neonatal respiratory distress, Small for gestational age OMIM:260400
Mandibulofacial Dysostosis, Guion-Almeida Type
Progressive microcephaly, Microcephaly, Respiratory distress OMIM:610536
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Abnormality of hair texture, Alopecia, Abnormality of the dentition, ... ORPHA:286
Mogs-Cdg
Respiratory distress, Apnea, Hypoventilation, Hypoplasia of the corpus callosum ORPHA:79330
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Cyanosis, Wheezing, Upper airway obstruction, Dyspnea ORPHA:141127
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertrichosis, Flexion contracture of finger, Hepatomegaly, Premature graying of hair, Flexion c... OMIM:256040
Ramos-Arroyo Syndrome
Respiratory distress, Decreased body weight, Primary microcephaly, Severe failure to thrive ORPHA:1051
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Wide mouth, Delayed eruption of teeth, Cholestasis, Congenital Horner syndrome, Hori... OMIM:619503
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis ORPHA:49566
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hydrocephalus, Umbilical hernia ORPHA:1555
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Failure to thrive, Urticaria, Asthma, Vasculitis in the skin, Cutis marmora... ORPHA:3260
Q Fever
Respiratory distress, Cough, Purpura, Pneumonia, Pleural effusion, Weight loss ORPHA:781
Pfeiffer Syndrome Type 2
Respiratory distress, Hydrocephalus, Aqueductal stenosis, Tracheomalacia ORPHA:93259
Bilateral Polymicrogyria
Facial diplegia, Wide mouth, Central hypothyroidism, Difficulty in tongue movements, Abnormality ... ORPHA:268940
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Cerebral cortical atrophy, Microcephaly, Lateral ventricle dilatation, Obesity ORPHA:177907
Alternating Hemiplegia Of Childhood
Respiratory distress, Failure to thrive, Flushing, Apnea, Aspiration ORPHA:2131
Farber Disease
Respiratory distress, Failure to thrive, Respiratory insufficiency ORPHA:333
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Celiac disease, Viral hepatitis, Lymphoma, Cholecystitis, Epididymitis, Cholan... ORPHA:183675
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure ORPHA:3015
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Failure to thrive, Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:99050
Goodpasture Syndrome
Increased DLCO, Cyanosis, Crackles, Tachypnea, Cough, Restrictive ventilatory defect, Exertional ... OMIM:233450
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory ... ORPHA:3342
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Leukoencephalopathy, Failure to thrive, Apnea, Cerebral atrophy, Abnormal b... ORPHA:17
Angioosteohypertrophic Syndrome
Telangiectasia of the skin, Peripheral arteriovenous fistula, Multiple lipomas, Pulmonary embolis... ORPHA:2346
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Tachypnea, Ecchymosis, Pneumonia ORPHA:36234
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Decreased body weight, Petechiae, Epistaxis, Cough, Ecchymosis, Pneumonia, ... ORPHA:340
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Loeys-Dietz Syndrome 3
High palate, Tortuous cerebral arteries, Cleft palate, Aortic tortuosity, Subarachnoid hemorrhage... OMIM:613795
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Abnormal cortical gyration, Hypoplasia of the corpus callosum OMIM:300968
Mgat2-Cdg
Progressive microcephaly, Failure to thrive, Respiratory distress ORPHA:79329
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Hydrocephalus, Airway obstruction, Cerebral calcification, Pulmonary arteri... ORPHA:505248
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Meier-Gorlin Syndrome 1
Respiratory distress, Failure to thrive, Small for gestational age, Microcephaly, Death in infanc... OMIM:224690
Auriculocondylar Syndrome
Respiratory distress, Snoring, Obstructive sleep apnea ORPHA:137888
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Failure to thrive, Sleep apnea, Respiratory insufficiency, Orthopnea, Exert... ORPHA:365
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Toxic Epidermal Necrolysis
Respiratory distress, Erythema, Cough, Restrictive ventilatory defect, Weight loss ORPHA:537
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Urticaria, Cachexia, Interstitial pneumonitis, Pneumonia, Failure to thrive... ORPHA:37042
Nocardiosis
Respiratory distress, Nonproductive cough, Pneumothorax, Productive cough, Pneumonia, Emphysema, ... ORPHA:31204
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Apnea, Episodic respiratory distress, Focal T2 hyperintense basal ganglia lesi... ORPHA:255210
Atrioventricular Septal Defect 3
Cyanosis, Pulmonary arterial hypertension OMIM:600309
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Failure to thrive, Hydrocephalus, Respiratory distress, Aqueductal stenosis, Cy... OMIM:306955
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... ORPHA:64744
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Gastric ulcer, Splenomegaly, Papilledema, Calcification of the aorta, Hepatosplen... ORPHA:2072
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Asthma, Central hypoventilation, Cyanosis, Cardiorespiratory arrest, Obesity, Hypoventilation, Ob... ORPHA:293987
Campomelic Dysplasia
Respiratory distress, Failure to thrive, Hydrocephalus, Apnea, Tracheomalacia, Tracheobronchomala... OMIM:114290
Pfeiffer Syndrome Type 3
Respiratory distress, Aqueductal stenosis, Tracheomalacia ORPHA:93260
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, Neonatal death OMIM:266910
Aicardi-Goutières Syndrome
Multifocal cerebral white matter abnormalities, Cerebral calcification, Cutis marmorata, Microcep... ORPHA:51
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Hydrocephalus, Bruising susceptibility, Tracheomalacia, Repeated pneumothor... ORPHA:536467
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Epidid... OMIM:307200
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Cough, Hyperventilation, Pneumothorax, Ischemic stroke ORPHA:90068
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Torticollis, Cryptorchidism, Oligospermia, Varicose veins OMIM:314300
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Microcephaly ORPHA:438216
Gitelman Syndrome
Graves disease, Type I diabetes mellitus, Primary hyperaldosteronism, Prolonged QT interval, Abno... ORPHA:358
Aortic Arch Interruption
Respiratory distress, Exertional dyspnea, Cyanosis, Tachypnea ORPHA:2299
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Behcet Syndrome
Patchy alopecia, Raynaud phenomenon, Genital ulcers, Epididymitis, Oral ulcer OMIM:109650
Familial Cerebral Cavernous Malformation
Neuroma, Cerebral hemorrhage, Hemangioma, Choroidal hemangioma, Venous malformation, Meningioma ORPHA:221061
Igg4-Related Kidney Disease
Decreased liver function, Sialadenitis, Pancreatitis, Prostatitis, Arteritis, Urethritis, Scleros... ORPHA:449395
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Ear-Patella-Short Stature Syndrome
Respiratory distress, Failure to thrive, Microcephaly, Dyspnea, Respiratory failure ORPHA:2554
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Failure to thrive, Stridor, Fragile skin, Pneumonia, Pneumothorax, Dyspnea,... ORPHA:79404
Autoimmune Polyendocrinopathy Type 3
Thymoma, Graves disease, Alopecia, Hypergonadotropic hypogonadism, Xerostomia, Autoimmune hypopar... ORPHA:227982
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Severe failure to thrive, Cyanosis, Generalized abnormality ... ORPHA:740
Listeriosis
Respiratory distress, Miscarriage, Respiratory failure, Pneumonia, Jaundice ORPHA:533
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Microcephaly, Decreased body weight, Central sleep apnea OMIM:615273
Schinzel-Giedion Syndrome
Respiratory distress, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Neural tube d... ORPHA:798
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... ORPHA:293978
Occipital Horn Syndrome
Hiatus hernia, High, narrow palate, Exostoses, Coarse hair, Long philtrum, Cholestasis, Hepatitis... ORPHA:198
Autoimmune Polyendocrinopathy Type 4
Thymoma, Alopecia, Hypergonadotropic hypogonadism, Xerostomia, Atrophic gastritis, Hepatitis, Typ... ORPHA:227990
Osteoglophonic Dysplasia
Respiratory distress, Failure to thrive OMIM:166250
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Acrocyanosis OMIM:223900
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Dermatomyositis
Telangiectasia of the skin, Respiratory insufficiency, Erythema, Cutaneous photosensitivity, Weig... ORPHA:221
Tuberous Sclerosis Complex
Respiratory distress, Cortical tubers, Generalized abnormality of skin, Cortical dysplasia, Nonco... ORPHA:805
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Postinfectious Vasculitis
Vasculitis in the skin, Cutis marmorata, Palpable purpura, Pneumonia, Weight loss, Ischemic strok... ORPHA:48435
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hyper... ORPHA:97214
Coccidioidomycosis
Respiratory distress, Hydrocephalus, Pleural empyema, Cough, Pneumonia, Exudative pleural effusion ORPHA:228123
Ehlers-Danlos Syndrome, Vascular Type
Uterine prolapse, Periodontitis, Premature loss of teeth, Cystocele, Uterine rupture, Hemothorax,... OMIM:130050
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Purpura, Petechiae ORPHA:2330
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Hypohidrotic ectodermal dysplasia, Rhinitis, Periorbital wrinkles OMIM:305100
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Woodhouse-Sakati Syndrome
Anodontia, Hypoplasia of the uterus, Decreased serum testosterone concentration, Abnormal T-wave,... OMIM:241080
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Epididymitis, Hepatocellular carcinoma, Prostatitis OMIM:300755
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Respiratory acidosis, Microcephaly, Erythema, Fragile skin, Neonatal respir... OMIM:614748
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Abnormality of the endocrine system, Precocious puberty, Pulmonic stenosis, Inc... ORPHA:438213
Arboleda-Tham Syndrome
Respiratory distress, Microcephaly, Recurrent aspiration pneumonia, Primary microcephaly, Neonata... OMIM:616268
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, Elevated circulating th... OMIM:218700
Varicose Veins
Varicose veins OMIM:192200
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Nephroblastoma, Renal cyst, Thick vermilion border, Varicose veins OMIM:617107
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cerebral calcification, Cyanosis, Encephalomalacia, Pulmonary arterial hype... ORPHA:51608