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Gene: Kifbp MGI:1919570

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype 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

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Goldberg-Shprintzen Megacolon Syndrome
Hypospadias, Cleft palate, Aganglionic megacolon, Bifid scrotum, Sparse scalp hair, Pachygyria, S... ORPHA:66629
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Aganglionic megacolon, Short philtrum, Pachygyria, Hypoplasia of the corpu... OMIM:609460

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
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Von Hippel-Lindau Disease
Myocarditis, Endolymphatic sac tumor, Cerebellar hemangioblastoma, Abnormal left ventricular func... ORPHA:892
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly ORPHA:171703
Benign Schwannoma
Abnormal cranial nerve morphology, Vestibular Schwannoma, Abnormal parotid gland morphology, Faci... ORPHA:252164
Von Hippel-Lindau Syndrome
Hypertension, Retinal capillary hemangioma, Pancreatic cysts, Pulmonary capillary hemangiomatosis... OMIM:193300
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Microcephaly, Death in childhood OMIM:302000
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Lissencephaly, Respiratory distress, Abnormal mucociliary clearance, Hypoplasia o... OMIM:619466
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hydrocephalus, Fusion of t... OMIM:617542
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
Floating-Harbor Syndrome
Hypospadias, Smooth philtrum, Hirsutism, Wide mouth, Celiac disease, Congenital posterior urethra... OMIM:136140
Diethylstilbestrol Syndrome
Testicular dysgenesis, Hypospadias, Abnormal reproductive system morphology, Breast carcinoma, Ab... ORPHA:1916
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress, Neuronal loss in basal ganglia, Basal ganglia gliosis OMIM:604377
Isolated Congenital Hypoglossia/Aglossia
Weight loss, Upper airway obstruction, Respiratory distress, Dyspnea, Aspiration pneumonia ORPHA:141152
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Failure to thrive, Cough, Respiratory distress, Cyanosis, Respiratory failure OMIM:263000
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Failure to thrive, Cough, Respiratory distress, Cyanosis, Intercostal retra... ORPHA:91359
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Weight loss, Cough, Respirat... ORPHA:1302
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Respiratory distress, Microcephaly, Death in childhood OMIM:615597
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Respiratory distress, Cyanosis ORPHA:91130
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Abnormal corpus striatum morphology, Respiratory insufficiency ORPHA:238329
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Respiratory distress, Decreased response to growth hormone stimulation test, L... OMIM:245590
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Respiratory distress, Hypoplasia of the corpus callosum, Microcephaly OMIM:300934
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Floating-Harbor Syndrome
Carious teeth, Hypospadias, Microdontia, Oligodontia, Celiac disease, Persistent left superior ve... ORPHA:2044
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Failure to thrive, Respiratory failure, Respiratory distress, Restrict... OMIM:614399
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Hypoplasia of the corpus callosum, Microcephaly, Cerebral atrophy OMIM:618006
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding, Abnormality of the mouth OMIM:600195
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Death in infancy, Tachypnea, Failure to thrive, Neonatal death, Ap... OMIM:265120
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Dysgenesis of the hippocampus, Hypoplasia of the olfacto... ORPHA:300570
Chiari Malformation Type Ii
Myelomeningocele, Cyanosis, Spina bifida, Hydrocephalus, Agenesis of corpus callosum, Inspiratory... OMIM:207950
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea, Microcephaly ORPHA:1832
Arnold-Chiari Malformation Type I
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Abnormality of the musculat... ORPHA:268882
Hereditary Methemoglobinemia
Temporal cortical atrophy, Small for gestational age, Exertional dyspnea, Frontal cortical atroph... ORPHA:621
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Matu... OMIM:137920
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea, Progressive microcephaly ORPHA:71277
Combined Oxidative Phosphorylation Defect Type 23
Paroxysmal dyspnea, Stridor, Failure to thrive, Abnormal thalamic MRI signal intensity, Cyanosis,... ORPHA:444013
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Respiratory distress OMIM:615595
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T... OMIM:610921
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Failure to thrive in infancy, Crackles, Tachypnea, Cough, Respiratory distress, Acute ... ORPHA:264675
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Asbestos Intoxication
Wheezing, Restrictive ventilatory defect, Hypoxemia, Exertional dyspnea, Dyspnea, Cyanosis, Late ... ORPHA:2302
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Failure to thrive, Upper airway obstruct... ORPHA:60032
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Respiratory distress, Microcephaly ORPHA:26792
Laryngeal Abductor Paralysis
Cyanosis, Stridor, Microcephaly OMIM:150260
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Neonatal respiratory distress, Cerebral white matter atrophy, Respiratory distr... OMIM:615042
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Failure... ORPHA:2257
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Respiratory distress, Microcephaly, Cerebral atrophy OMIM:618426
Familial Multiple Nevi Flammei
Abnormal cranial nerve morphology, Intracranial hemorrhage, Edema, Venous insufficiency, Pulmonar... ORPHA:624
Isolated Splenogonadal Fusion
Unilateral cryptorchidism, Abnormal penis morphology, Abnormality of the scrotum, Abnormality of ... ORPHA:457083
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis, Hypoventilation OMIM:257500
Pleural Mesothelioma
Abnormal respiratory system physiology, Weight loss, Cough, Respiratory distress, Dyspnea, Pleura... ORPHA:50251
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Cerebral white matter hypoplasia, Simplified gyral pattern, Primary... ORPHA:284417
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis, Microcephaly OMIM:250800
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight OMIM:300580
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:254210
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity OMIM:615993
Perching Syndrome
Respiratory distress OMIM:617055
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Aplasia/Hypoplasia of the pyramidal tract, Neonatal death, Polymicrog... OMIM:619602
Arnold-Chiari Malformation Type Ii
Meningocele, Partial agenesis of the corpus callosum, Myelomeningocele, Pneumonia, Apnea, Cyanosi... ORPHA:1136
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites, Hemangioma, Edema, Patent ductus arteriosus, Microcephaly, Gastrointestina... ORPHA:90308
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Failure to thrive in infancy, Dysplastic corpus c... ORPHA:488627
Developmental And Epileptic Encephalopathy 68
Microcephaly, Respiratory distress, Cerebral cortical atrophy, Failure to thrive OMIM:618201
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:605809
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Respiratory distress, Cyan... ORPHA:2414
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Cough, Aspiration, Cyanosis, Dyspnea ORPHA:2004
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Cyanosis, Respiratory failure, Nasal flaring, Atelectasis ORPHA:70587
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, Primary microcephaly, Respiratory distress, 4-layered lissencephaly, Cerebral... ORPHA:89844
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Flexion contracture, Abnormality of the epididymis OMIM:613330
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Weight loss, Cough, Respir... ORPHA:411703
Ethylmalonic Encephalopathy
Acrocyanosis, Abnormal basal ganglia MRI signal intensity, Petechiae, Failure to thrive ORPHA:51188
Encephalopathy, Ethylmalonic
Acrocyanosis, Focal T2 hyperintense basal ganglia lesion, Petechiae, Failure to thrive OMIM:602473
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Failure to thrive in infancy, Respiratory insufficiency, Respiratory insufficiency due to muscle ... ORPHA:254875
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Simplified gyral pattern, Acrocyanosis, Progressive microcephaly, Abnormal cer... OMIM:614407
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Cough, Gonadotropin defi... OMIM:610978
Burning Mouth Syndrome
Strawberry tongue, Parageusia, Abnormality of somatosensory evoked potentials, Tongue pain, Xeros... ORPHA:353253
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormality of secondary sexual hair, Abnormal prolactin level, Agenesis of corpus callosum, Sept... ORPHA:95494
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis OMIM:267450
Agnathia-Otocephaly Complex
Holoprosencephaly, Respiratory distress, Tracheomalacia, Agenesis of corpus callosum OMIM:202650
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Pneumonia, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defect, Dyspnea OMIM:610910
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Progressive microcephaly OMIM:614741
Proteus Syndrome
Hemangioma, Lymphangioma, Splenomegaly, Venous malformation, Lipoma, Open mouth, Multiple lipomas OMIM:176920
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, Bronchiectasis, Decreased f... ORPHA:1303
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:613090
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Weight loss, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defect... ORPHA:747
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia OMIM:301060
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Respiratory distress, Elevated circulating thyroid-stimulating hormone... ORPHA:226313
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Gaucher Disease Type 2
Respiratory distress, Cough, Abnormal pattern of respiration ORPHA:77260
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Cyanosis, Orthopnea, Reduced vital capacity, ... ORPHA:98913
Succinic Acidemia
Respiratory distress OMIM:600335
Acute Interstitial Pneumonia
Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Cyanosis, Decreased DLCO, Nonproductive cough, Re... ORPHA:79126
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Failure to thrive, Respiratory distress, Microcephaly ORPHA:261304
Milroy Disease
Predominantly lower limb lymphedema, Neoplasm of the skin, Abnormal venous morphology, Angiosarco... ORPHA:79452
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Aortic dissection, Peripheral axonal neuropathy, High, narrow palate, Abno... ORPHA:1900
Mitochondrial Complex I Deficiency, Nuclear Type 37
Failure to thrive, Pulmonary arterial hypertension, Respiratory distress, Corpus callosum atrophy... OMIM:619272
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea, Cerebral atrophy OMIM:261680
Breath-Holding Spells
Cyanosis OMIM:607578
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Neoplasm of the thymus, Increased circulating cortisol level, Prominent ... ORPHA:97289
Enlarged Parietal Foramina
Cleft palate, Multiple exostoses, Myelomeningocele, Encephalomalacia, Cleft lip, Venous malformation ORPHA:60015
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Respiratory distress, Erythema, Upper airway obstruction ORPHA:100057
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Respiratory distress, Cyanosis ORPHA:464453
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Hypoxemia, Chronic pulmonary obstruction, Bronchiectasis, Weight loss, Reduced FEV1/FVC... ORPHA:79127
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Ovarian neoplasm, Neoplasm of the breast, Arteriovenous malformation, Visceral angiomatosis, Lymp... ORPHA:137608
Stt3B-Cdg
Failure to thrive, Respiratory distress, Microcephaly ORPHA:370924
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... ORPHA:36238
Hsd10 Disease, Infantile Type
Cerebral atrophy, Cyanosis, Abnormality of the basal ganglia, Frontotemporal cerebral atrophy, Di... ORPHA:391428
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Frontotemporal cerebral atrophy ORPHA:79097
Giant Axonal Neuropathy
Diffuse axonal swelling, Limb muscle weakness, Facial palsy, Abnormality of the pituitary gland, ... ORPHA:643
Tetrasomy 5P
Failure to thrive, Pulmonary arterial hypertension, Respiratory distress, Pericallosal lipoma, Cy... ORPHA:3309
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:602522
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress OMIM:237310
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Respiratory distress, Secondary microcephaly, Failure to thrive OMIM:608799
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough, Microcephaly ORPHA:86812
Leigh Syndrome With Cardiomyopathy
Neuronal loss in basal ganglia, Diffuse white matter abnormalities, Abnormal globus pallidus morp... ORPHA:70474
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Dyspnea, Atelectasis ORPHA:922
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Abnormal periventricular white matter morphology, Respiratory insufficiency ORPHA:1145
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Atelectasis, Pneumothorax, Pulmonary arterial hypertension, Respiratory dist... ORPHA:70588
Glossopharyngeal Neuralgia
Abnormal palate morphology, Syncope, Tongue pain, Cranial nerve compression, Abnormal glossophary... ORPHA:221098
Anaplastic Thyroid Carcinoma
Stridor, Weight loss, Cough, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:142
Pituicytoma
Increased circulating prolactin concentration, Hypogonadotropic hypogonadism, Pituitary hypothyro... ORPHA:251623
Juvenile Polyposis Syndrome
Visceral angiomatosis, Hemangioblastoma, Spontaneous, recurrent epistaxis, Neoplasm of the small ... ORPHA:2929
Kaposi Sarcoma
Neoplasm of the skin, Abnormality of the spleen, Lymphoproliferative disorder, Hemangioma, Abnorm... ORPHA:33276
Capillary Malformation-Arteriovenous Malformation
Lymphedema, Abnormality of the musculature of the limbs, Arteriovenous fistula, Nonimmune hydrops... ORPHA:137667
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea ORPHA:178320
Choanal Atresia
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Abnormal nasal mucus... ORPHA:137914
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress, Large for gestational age ORPHA:45452
Aicardi-Goutieres Syndrome 1
Deep white matter hypodensities, Prolonged neonatal jaundice, Petechiae, Erythema, Leukoencephalo... OMIM:225750
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Hypospadias, High palate, Aganglionic megacolon, External ... OMIM:601095
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Failure to thrive, Cerebral white matter atrophy, Respiratory distress, Progressive microcephaly,... ORPHA:329178
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Respiratory distress, Agenesis of corpus callosum ORPHA:990
Congenital Tracheomalacia
Wheezing, Productive cough, Neonatal respiratory distress, Stridor, Respiratory insufficiency, Tr... ORPHA:95430
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Failure to thrive, Respiratory distress, Hypoplasia of the corpus callosum, Microcephaly ORPHA:544503
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Gjc2-Related Late-Onset Primary Lymphedema
Abnormal lymphatic vessel morphology, Hypoplasia of lymphatic vessels, Facial edema, Genital edem... ORPHA:568051
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age OMIM:616733
Malaria
Respiratory distress ORPHA:673
Mercury Poisoning
Interstitial pneumonitis, Respiratory distress, Abnormal cerebral white matter morphology, Respir... ORPHA:330021
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Parkes Weber Syndrome
Arteriovenous fistula, Muscle hypertrophy of the lower extremities, Subarachnoid hemorrhage, Abno... ORPHA:90307
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele ORPHA:66637
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Hypoplasia of the corpus callosum OMIM:617102
Sepsis In Premature Infants
Abnormal respiratory system physiology, Petechiae, Small for gestational age, Cyanosis, Abnormal ... ORPHA:90051
Idiopathic Congenital Hypothyroidism
Macroglossia, Decreased circulating T4 level, Bradycardia, Facial edema, Elevated circulating thy... ORPHA:95717
Fg Syndrome Type 1
Pyloric stenosis, Hypospadias, Aplasia/Hypoplasia of the corpus callosum, Umbilical hernia, High ... ORPHA:93932
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Exertional dyspnea, Elevated pulmonary artery pressure, Cyanosis, Decreased DLCO, Hemo... ORPHA:199241
Slc35A1-Cdg
Hypoxemia, Respiratory distress, Pneumonia, Subcutaneous hemorrhage ORPHA:238459
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress, Microcephaly ORPHA:927
Waardenburg Syndrome Type 3
Microcephaly, Tracheomalacia, Acrocyanosis, Atelectasis ORPHA:896
Non-Acquired Panhypopituitarism
Abnormality of secondary sexual hair, Abnormal prolactin level, Hypogonadotropic hypogonadism, Pi... ORPHA:90695
Pulmonary Alveolar Microlithiasis
Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, Bronchiectasis, Tachypnea, ... ORPHA:60025
Microlissencephaly-Micromelia Syndrome
Failure to thrive, Respiratory distress, Secondary microcephaly, Lissencephaly ORPHA:50810
Congenital Myasthenic Syndrome
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:98914
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Failure to thrive, Respiratory insufficiency due to muscle weakness, Leukoencephalopathy, Exertio... OMIM:220110
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microcephaly, Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Sleep apnea OMIM:616975
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Non... ORPHA:454836
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Oculocerebrofacial Syndrome, Kaufman Type
Failure to thrive, Respiratory distress, Respiratory failure, Dyspnea, Microcephaly ORPHA:2707
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Respiratory distress, Hydrocephalus, Dilation of lateral ventricles, Agenesis of ... OMIM:612863
Clapo Syndrome
Lymphangioma, Capillary hemangioma, Varicose veins, Venous malformation, Ganglioneuroma, Capillar... ORPHA:168984
Myotonic Dystrophy 1
Respiratory distress, Cerebral atrophy OMIM:160900
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Severe failure to thrive, Microcephaly ORPHA:3304
Tricuspid Atresia
Cyanosis ORPHA:1209
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Weight loss, Exertional dyspnea, ... ORPHA:723
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the pituitary gland, Ad... ORPHA:91349
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Respiratory insufficiency, Failure to thrive, Focal T2 hyperintense basal gangl... OMIM:252010
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Thin corpus callosum, Microcephaly OMIM:619580
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Macroglossia, Increased radioactive iodine uptake, Thyroid def... ORPHA:95716
Complete Atrioventricular Septal Defect
Wheezing, Crackles, Tachypnea, Failure to thrive, Elevated pulmonary artery pressure, Pulmonary v... ORPHA:1329
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Craniofaciofrontodigital Syndrome
Palmoplantar cutis laxa, Pulmonary arterial hypertension, Large for gestational age, Respiratory ... ORPHA:363705
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory insufficiency, Apnea, Intracerebral periventricular calcifications, Respiratory distr... OMIM:608836
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Respiratory distress, Neonatal death, Pachygyria OMIM:231680
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Small for gestational age, Tachypnea, Failure to thrive, Cyanosis ORPHA:860
Pulmonary Arteriovenous Malformation
Hypoxemia, Telangiectasia, Epistaxis, Pulmonary arterial hypertension, Cough, Pleural empyema, Cy... ORPHA:2038
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Cyanosis, Respiratory insufficiency, Microcephaly ORPHA:159
Marcus-Gunn Syndrome
Cleft lip, Cleft palate, Abnormal fifth cranial nerve morphology ORPHA:91412
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Failure to thrive, Respiratory insufficiency due to muscle weakness, R... ORPHA:308552
Phace Syndrome
Ectopic thyroid, Visceral angiomatosis, Aortic root aneurysm, Optic nerve hypoplasia, Coarctation... ORPHA:42775
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia ORPHA:596
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Failure to thrive, Pulmonary arterial hypertension, Cavum septum p... ORPHA:209905
Infantile Krabbe Disease
Hypointensity of cerebral white matter on MRI, Cachexia, Failure to thrive, Respiratory distress,... ORPHA:206436
Gaucher Disease, Perinatal Lethal
Petechiae, Neonatal death, Apnea, Respiratory distress, Purpura, Decreased body weight, Microcephaly OMIM:608013
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Aortic dissection, Juvenile gastrointestinal polyposis, Telangiectasia, Mitral regurgitation, Gas... OMIM:175050
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Telangiectasia, Hereditary Hemorrhagic, Type 4
Dilatation of celiac artery, Cerebral hemorrhage, Ischemic stroke, Spinal arteriovenous malformat... OMIM:610655
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy, Atelectasis OMIM:300219
Gardner Syndrome
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... ORPHA:79665
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Small for gestational age, Tachypnea, Cyanosis, Respiratory failure, Respiratory failu... ORPHA:555874
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Buerger Disease
Acrocyanosis ORPHA:36258
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spinal arteriovenous malformation, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malf... OMIM:187300
Igg4-Related Ophthalmic Disease
Cholangitis, Neoplasm of the lung, Abnormality of the anterior pituitary, Prostatitis, Retroperit... ORPHA:449563
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Respiratory distress ORPHA:79312
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress, Weight loss ORPHA:79242
Oculopharyngodistal Myopathy 1
Hypercapnia, Respiratory insufficiency due to muscle weakness, Weight loss, Respiratory distress,... OMIM:164310
Dravet Syndrome
Dysgenesis of the hippocampus, Cyanotic episode ORPHA:33069
Angioosteohypotrophic Syndrome
Edema, Venous malformation, Telangiectasia of the skin, Prominent superficial veins ORPHA:75508
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Ciliary Dyskinesia, Primary, 2
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress, Immotile cilia OMIM:606763
Hereditary Bullous Dystrophy, Macular Type
Microcephaly, Acrocyanosis, Pneumonia ORPHA:1867
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Decreased circul... ORPHA:95513
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Angiosarcoma, Facial edema, Va... ORPHA:90186
Menkes Disease
Abnormal palate morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Intracranial he... ORPHA:565
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Thyroid hypoplasia, Decreased circulating follicle stimulating hormone concentration, Facial edem... ORPHA:226307
Lymphedema-Distichiasis Syndrome
Lymphedema, Cleft palate, Cleft upper lip, Yellow nails, Patent ductus arteriosus, Varicose veins... OMIM:153400
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Hypoplasia of the corpus callosum, Pulmonary arterial hypertension, Microce... ORPHA:2519
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2759
Pituitary Carcinoma
Increased circulating prolactin concentration, Enlarged pituitary gland, Diabetes insipidus, Mali... ORPHA:300385
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Atrial Septal Defect, Ostium Primum Type
Abnormal respiratory system physiology, Tachypnea, Failure to thrive, Pulmonary arterial hyperten... ORPHA:99106
Livedoid Vasculopathy
Hypertension, Abnormal capillary morphology, Telangiectasia of the skin, Varicose veins, Venous i... ORPHA:542643
Hepatocellular Carcinoma
Hepatomegaly, Type II diabetes mellitus, Esophageal varix, Ascites, Budd-Chiari syndrome, Hemobil... ORPHA:88673
Double Outlet Right Ventricle
Tachypnea, Cyanosis, Failure to thrive ORPHA:3426
Brown-Vialetto-Van Laere Syndrome 1
Stridor, Respiratory insufficiency, Respiratory distress, Nocturnal hypoventilation, Dyspnea OMIM:211530
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hydrocephalus, Agenesis of corpus callosum, Palmoplantar cutis laxa OMIM:123790
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Goldberg-Shprintzen Megacolon Syndrome
Hypospadias, Cleft palate, Aganglionic megacolon, Bifid scrotum, Sparse scalp hair, Pachygyria, S... ORPHA:66629
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Varicose veins, Leukoencephalopathy, Recurrent s... OMIM:125310
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hyperchloriduria, I... OMIM:241200
Lymphedema-Distichiasis Syndrome
Cleft palate, Cleft upper lip, Patent ductus arteriosus, Fibrosarcoma, Varicose veins, Distichias... ORPHA:33001
Histiocytoid Cardiomyopathy
Tachypnea, Failure to thrive, Cough, Cyanosis, Hydrocephalus, Agenesis of corpus callosum ORPHA:137675
Gangliocytoma
Abnormal prolactin level, Neoplasm of the central nervous system, Abnormality of the pituitary gl... ORPHA:251937
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Long philtrum, Posterior pituitary hypoplasia, Nail dystro... ORPHA:75389
Telangiectasia, Hereditary Hemorrhagic, Type 2
Spinal arteriovenous malformation, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malf... OMIM:600376
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Small for gestational age, Tachypnea, Episodic tachypnea, Respiratory distress, Overwe... ORPHA:26793
Tularemia
Respiratory distress, Pleural effusion, Cough, Pneumonia ORPHA:3392
Ethylene Glycol Poisoning
Episodic respiratory distress, Abnormal pattern of respiration, Tachypnea, Cyanosis, Cerebral edema ORPHA:31826
Renal Nutcracker Syndrome
Syncope, Vulval varicose vein, Orthostatic hypotension, Tachycardia, Varicocele, Varicose veins, ... ORPHA:71273
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Neonatal respiratory distress, Respiratory distress, Tracheomalacia, Agenesis of corpus callosum,... OMIM:217980
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Midsystolic murmur, Paroxysmal atrial fibrillatio... ORPHA:1677
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Cavum septum pellucidum, Respiratory distress, Hypoplasia of the corpus callosum OMIM:619383
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased circulating c... ORPHA:95512
Structural Heart Defects And Renal Anomalies Syndrome
Partial agenesis of the corpus callosum, Cyanosis, Death in infancy, Microcephaly OMIM:617478
X-Linked Acrogigantism
Diastema, Enlarged pituitary gland, Diabetes insipidus, Increased serum insulin-like growth facto... ORPHA:300373
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Generalized abnormality of skin, Respiratory distress, Respiratory insufficiency, Failure to thrive ORPHA:367
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cleft palate, High palate, Mitral regurgitation, Hypoplasia of the thymus, Pulmonar... OMIM:612541
Craniopharyngioma
Optic atrophy, Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus... ORPHA:54595
Autosomal Dominant Spastic Paraplegia Type 10
Peripheral axonal neuropathy, Upper limb amyotrophy, Leg muscle stiffness, Distal lower limb amyo... ORPHA:100991
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Astrocytoma, Neoplasm of the adrenal gland, Cholangiocarcinoma, Aden... ORPHA:733
Eosinophilic Fasciitis
Acrocyanosis, Weight loss ORPHA:3165
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Increased circulating renin level ORPHA:89938
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Ascites, Edema, Chylothorax, Facial edema, Genital edema, Polyhydramni... OMIM:616843
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cleft palate, Small pituitary gland, Micropenis, Cryptorchidism, Decreased testicular size OMIM:614880
Japanese Encephalitis
Abnormal pattern of respiration, Abnormal cerebral morphology, Abnormal caudate nucleus morpholog... ORPHA:79139
Thymic Carcinoma
Edema, Palpebral edema, Abnormal vena cava morphology, Neoplasm of the thymus ORPHA:99868
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Pulmonary arterial hypertension, Leukoencephalopathy, Respiratory distress, Pe... ORPHA:79282
Proteus-Like Syndrome
Thymus hyperplasia, Open bite, Hemangioma, Polycystic ovaries, Exostoses, Splenomegaly, Venous in... ORPHA:2969
X-Linked Intellectual Disability, Nascimento Type
Hypospadias, Peripheral pulmonary artery stenosis, Mitral stenosis, Patent ductus arteriosus, Mic... ORPHA:163956
Mucopolysaccharidosis-Plus Syndrome
Cerebral calcification, Respiratory distress, Recurrent pneumonia, Death in childhood, Microcephaly OMIM:617303
Turcot Syndrome With Polyposis
Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... ORPHA:99818
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Patent ductus arteriosus, Varicose veins, Distichiasis, Pedal edema, Periphera... OMIM:126320
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Pulmonary arterial hypertension, Weight loss, A... ORPHA:2905
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Polymicrogyria, Respiratory insufficiency OMIM:608022
Unilateral Polymicrogyria
Perisylvian polymicrogyria, Epistaxis, Apnea, Cyanosis, Cortical dysplasia, Microcephaly ORPHA:268943
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, High palate, Premature loss of teeth, Pericardial effusion, Aortic root ... ORPHA:536532
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Smooth philtrum, Short philtrum, Thin vermilion border, Abnormal corpus callos... OMIM:618343
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Sheehan Syndrome
Central adrenal insufficiency, Hashimoto thyroiditis, Abnormal size of pituitary gland, Decreased... ORPHA:91355
Tarp Syndrome
Failure to thrive, Cyanosis, Apnea, Abnormal corpus callosum morphology ORPHA:2886
Scimitar Syndrome
Left-to-right shunt, Interrupted inferior vena cava with azygous continuation, Truncus arteriosus... ORPHA:185
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Pulmonary embolism ORPHA:745
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Agenesis of corpus callosum OMIM:618733
22Q11.2 Deletion Syndrome
Carious teeth, Hypospadias, Arrhinencephaly, Cleft palate, Truncus arteriosus, Hypoplasia of the ... ORPHA:567
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
High palate, Hypogonadotropic hypogonadism, Cleft lip, Small pituitary gland, Micropenis, Cryptor... OMIM:612702
Crimean-Congo Hemorrhagic Fever
Myocarditis, Adrenal insufficiency, Subdural hemorrhage, Melena, Parotitis, Splenomegaly, Acute p... ORPHA:99827
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Pulmonary arterial hypertension, Breathing dysregulation, Exertional dyspnea, Cyanosis... ORPHA:99103
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Respiratory insufficiency, Weight loss, Cough, Acrocyanosis, Urticaria, Cutis marmorat... ORPHA:183
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Meningioma
Neoplasm of the skin, Syncope, Hypothalamic hypothyroidism, Decreased circulating follicle stimul... ORPHA:2495
Duplication Of The Pituitary Gland
Cleft palate, Wide mouth, Abnormal hypothalamus morphology, Volvulus, Supernumerary tooth, Polyhy... ORPHA:314621
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis OMIM:608106
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Intracranial hemorrhage, Diabetes insipidus, Optic nerve compression, H... ORPHA:91350
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Pancreatic hypoplasia, Patent ductus arteriosus, Splenomegaly, Micropenis,... OMIM:602782
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Macroglossia, Thy... ORPHA:90673
H Syndrome
Facial telangiectasia, Hypertrichosis, Azoospermia, Cleft upper lip, Alopecia, Gingival overgrowt... ORPHA:168569
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Cryptococcosis
Pneumonia, Cough, Respiratory distress, Cerebral edema, Hydrocephalus, Dyspnea, Pleural effusion,... ORPHA:1546
Esophageal Atresia
Failure to thrive in infancy, Chronic pulmonary obstruction, Episodic respiratory distress, Laryn... ORPHA:1199
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Episodic tachypnea, Respiratory distress, Dyspnea, Intermittent hyper... ORPHA:348
Hypermobile Ehlers-Danlos Syndrome
Abnormal palate morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubul... ORPHA:285
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Respiratory insufficiency, Pulmonary arterial hypertension, Exerti... ORPHA:98915
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Pulmonary edema, Varicose v... OMIM:617300
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Pulmonary embolism ORPHA:743
Genetic Transient Congenital Hypothyroidism
Goiter, Macroglossia, Thyroid hypoplasia, Edema, Thyroid defect in oxidation and organification o... ORPHA:226316
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Nasolacrimal Duct Cyst
Abnormal breath sound, Paroxysmal dyspnea, Stridor, Episodic respiratory distress, Intercostal re... ORPHA:141083
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Pitt-Hopkins Syndrome
Small cerebral cortex, Abnormal pattern of respiration, Failure to thrive, Acrocyanosis, Aplasia/... ORPHA:2896
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obstructive sleep apnea, Gonadotropin deficiency, Central hypoventilation, Cyanosis, Hypoventilat... ORPHA:293987
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Goiter, Macroglossia, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thy... ORPHA:90674
Bilateral Polymicrogyria
Central hypothyroidism, Perisylvian polymicrogyria, Wide mouth, Facial diplegia, Abnormal glossop... ORPHA:268940
Von Willebrand Disease
Venous insufficiency ORPHA:903
Lujo Hemorrhagic Fever
Ecchymosis, Crackles, Rhinitis, Respiratory distress, Cerebral edema, Purpura, Nonproductive coug... ORPHA:319213
Kniest Dysplasia
Respiratory distress, Tracheomalacia, Umbilical hernia OMIM:156550
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Spinal dysraphism, Lipoma, Venous malformation OMIM:612918
Rubinstein-Taybi Syndrome 1
Hypospadias, Hirsutism, Leukemia, Capillary hemangioma, Patent ductus arteriosus, Low posterior h... OMIM:180849
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Death in infancy, Episodic respiratory distress OMIM:301790
Campomelic Dysplasia
Tracheobronchomalacia, Failure to thrive, Apnea, Respiratory distress, Hydrocephalus OMIM:114290
Tsh-Secreting Pituitary Adenoma
Goiter, Ventricular arrhythmia, Abnormality of the pituitary gland, Elevated circulating thyroid-... ORPHA:91347
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Pulmonary arterial hypertension, Exertional dyspnea, Cyanosis, Dyspnea, Increased pulm... ORPHA:99104
Prader-Willi Syndrome
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Periodontitis, Diabete... ORPHA:739
Mogs-Cdg
Respiratory distress, Hypoplasia of the corpus callosum, Apnea, Hypoventilation ORPHA:79330
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Progressive microcephaly, Microcephaly OMIM:610536
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Prolactinoma
Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, Hypogonadotropic hypogonad... ORPHA:2965
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Hypoplasia of the thymus, Patent ductus ... ORPHA:3384
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Cleft palate, Duodenal atresia, Neonatal death, Patent ductus arteriosus, Misalignme... OMIM:265380
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology, Diabetes mellitus, Corneal stromal edema ORPHA:137596
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Abnormal vena cava morphology, Abnormality of the end... ORPHA:166035
Ramos-Arroyo Syndrome
Respiratory distress, Decreased body weight, Severe failure to thrive, Primary microcephaly ORPHA:1051
Adnp Syndrome
Truncal obesity, Respiratory distress, Aspiration, Focal white matter lesions, Cerebral atrophy, ... ORPHA:404448
Tetanus
Tachypnea, Respiratory distress ORPHA:3299
Sim1-Related Prader-Willi-Like Syndrome
Hypoplastic labia minora, Premature adrenarche, Micropenis, Thin upper lip vermilion, Type II dia... ORPHA:398079
Moebius Syndrome
Respiratory distress OMIM:157900
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse pubic hair, Agonadism, Thin upper lip vermilion, Contracture of the proximal interphalange... ORPHA:2232
Hereditary Angioedema Type 1
Dermatographic urticaria, Respiratory distress, Urticaria, Dyspnea, Inspiratory stridor ORPHA:100050
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Apnea, Leukoencephalopathy, Respiratory distress, Cerebral atrophy, Abnormal b... ORPHA:17
Microphthalmia With Limb Anomalies
Optic atrophy, Arrhinencephaly, Cleft palate, High palate, Camptodactyly of 2nd-5th fingers, Long... ORPHA:1106
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Focal hypointensity of cerebral white matter on MRI, Cerebral white matter hypoplasia, Large basa... ORPHA:261552
Mitochondrial Dna-Associated Leigh Syndrome
Episodic respiratory distress, Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Apn... ORPHA:255210
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormal cortical gyration, Respiratory distress, Hypoplasia of the corpus callosum OMIM:300968
Thoracic Outlet Syndrome
Edema, Varicose veins ORPHA:97330
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Abnormal venous morphology, Telangiectasia of the skin, Nephroblastom... ORPHA:276280
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Stridor, Pulmonary arterial hypertension, Respiratory distress, Hydrocephalus, Cerebral calcifica... ORPHA:505248
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal hemidiaphragm morphology, Reduced ejection fraction, Systolic heart ... ORPHA:980
Liposarcoma
Sarcoma, Varicose veins ORPHA:69078
Holoprosencephaly 9
Bilateral cleft lip and palate, Abnormal cortical gyration, Partial agenesis of the corpus callos... OMIM:610829
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Respiratory distress OMIM:251110
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Urticaria, Erythema, Purpura ORPHA:343
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Microcephaly ORPHA:438216
Angioosteohypertrophic Syndrome
Cavernous hemangioma, Lymphedema, Visceral angiomatosis, Telangiectasia of the skin, Gastrointest... ORPHA:2346
Heterotaxy, Visceral, 1, X-Linked
Failure to thrive, Respiratory distress, Cyanosis OMIM:306955
Microphthalmia With Linear Skin Defects Syndrome
Failure to thrive, Erythema, Absent septum pellucidum, Respiratory distress, Hydrocephalus, Respi... ORPHA:2556
Mgat2-Cdg
Failure to thrive, Respiratory distress, Progressive microcephaly ORPHA:79329
Vascular Ehlers-Danlos Syndrome
Carious teeth, Hypospadias, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal intest... ORPHA:286
Fucosidosis
Acrocyanosis, Failure to thrive, Vascular skin abnormality ORPHA:349
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Respiratory distress OMIM:251100
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hirsutism, Hip contracture, Esophageal varix, Thyroid hypoplasia, Decreased response to growth ho... OMIM:619503
Prader-Willi Syndrome Due To Translocation
Obesity, Respiratory distress, Anterior pituitary hypoplasia, Dilation of lateral ventricles, Dec... ORPHA:177907
Lymphatic Filariasis
Predominantly lower limb lymphedema, Lymphangiectasis, Vaginal hydrocele, Epididymitis, Abnormali... ORPHA:2035
Shwachman-Diamond Syndrome 1
Failure to thrive, Respiratory distress, Neonatal respiratory distress, Small for gestational age OMIM:260400
Thrombotic Thrombocytopenic Purpura, Hereditary
Prolonged neonatal jaundice, Respiratory distress, Jaundice OMIM:274150
Brucellosis
Myocarditis, Hepatomegaly, Pericarditis, Epididymitis, Abnormality of the peripheral nervous syst... ORPHA:1304
Erythrocytosis, Familial, 2
Hemangioma, Varicose veins, Hypotension, Cerebral hemorrhage OMIM:263400
Congenital Tracheal Stenosis
Wheezing, Upper airway obstruction, Respiratory distress, Cyanosis, Dyspnea, Neonatal asphyxia ORPHA:141127
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Abnormality of endocrine pancreas physiology, Hypospadias, Aplasia/Hypoplasia o... ORPHA:93111
Proteasome-Associated Autoinflammatory Syndrome 1
Thick lower lip vermilion, Hepatomegaly, Hypertrichosis, Skeletal muscle atrophy, Flexion contrac... OMIM:256040
Farber Disease
Failure to thrive, Respiratory distress, Respiratory insufficiency, Atelectasis ORPHA:333
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia, Hydrocephalus, Aqueductal stenosis ORPHA:93259
Q Fever
Pneumonia, Weight loss, Cough, Respiratory distress, Purpura, Pleural effusion ORPHA:781
Idiopathic Hypereosinophilic Syndrome
Angioedema, Failure to thrive, Cough, Vasculitis in the skin, Respiratory distress, Cutis marmora... ORPHA:3260
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Failure to thrive in infancy OMIM:612852
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hydrocephalus, Umbilical hernia ORPHA:1555
Alternating Hemiplegia Of Childhood
Failure to thrive, Apnea, Respiratory distress, Aspiration, Flushing ORPHA:2131
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Goodpasture Syndrome
Crackles, Tachypnea, Weight loss, Cough, Exertional dyspnea, Cyanosis, Increased DLCO, Restrictiv... OMIM:233450
Loeys-Dietz Syndrome 3
Cleft palate, Tortuous cerebral arteries, Patent ductus arteriosus, Aortic tortuosity, Varicose v... OMIM:613795
Myasthenia Gravis
Acrocyanosis, Dyspnea ORPHA:589
Radio-Renal Syndrome
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax ORPHA:3015
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Decreased body weight, Microcephaly, Central sleep apnea OMIM:615273
Aicardi-Goutières Syndrome
Arrhinencephaly, Multifocal cerebral white matter abnormalities, Degeneration of the striatum, Ac... ORPHA:51
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Failure to thrive, Respiratory insufficiency due to muscle weakness, E... ORPHA:365
Bacterial Toxic-Shock Syndrome
Sinusitis, Ecchymosis, Pneumonia, Tachypnea, Respiratory distress ORPHA:36234
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Respiratory distress, Prematurely aged appearance, Cardiorespiratory ... ORPHA:3342
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Esophageal varix, Gastric ulcer, Azoospermia, Hepatic fibrosis, Pulmon... ORPHA:2072
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Celiac disease, Epididymitis, Chronic gastritis, Lymphoma, Diabetes mellitus, Cholec... ORPHA:183675
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Toxic Epidermal Necrolysis
Weight loss, Erythema, Cough, Respiratory distress, Restrictive ventilatory defect ORPHA:537
Nocardiosis
Productive cough, Pneumonia, Pneumothorax, Weight loss, Respiratory distress, Nonproductive cough... ORPHA:31204
Meier-Gorlin Syndrome 1
Failure to thrive, Respiratory distress, Small for gestational age, Microcephaly OMIM:224690
Hemorrhagic Fever-Renal Syndrome
Ecchymosis, Pneumonia, Petechiae, Epistaxis, Cough, Respiratory distress, Decreased body weight, ... ORPHA:340
Pachyonychia Congenita
Failure to thrive, Respiratory distress ORPHA:2309
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Failure to thrive, Exertional dyspnea, Cyanosis, Pulmonary arterial hypertension ORPHA:99050
Foix-Alajouanine Syndrome
Arteriovenous fistula, Distal lower limb amyotrophy, Venous malformation, Distal lower limb muscl... ORPHA:79093
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Interstitial pneumonitis, Pneumonia, Respiratory distress... ORPHA:37042
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Ear-Patella-Short Stature Syndrome
Failure to thrive, Respiratory distress, Respiratory failure, Dyspnea, Microcephaly ORPHA:2554
Atrioventricular Septal Defect 3
Cyanosis, Pulmonary arterial hypertension OMIM:600309
Tuberous Sclerosis Complex
Noncommunicating hydrocephalus, Cortical tubers, Pituitary adenoma, Respiratory distress, General... ORPHA:805
Auriculocondylar Syndrome
Respiratory distress, Snoring, Obstructive sleep apnea ORPHA:137888
Igg4-Related Thyroid Disease
Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, Euthyroid g... ORPHA:64744
Gitelman Syndrome
Prominent U wave, Syncope, ST segment depression, Raynaud phenomenon, Varicose veins, Type I diab... ORPHA:358
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Hypogonadi... ORPHA:91351
Renal Dysplasia-Limb Defects Syndrome
Respiratory failure, Pneumothorax, Neonatal death, Respiratory distress OMIM:266910
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Respiratory insufficiency, Repeated pneumothoraces, Respiratory distress... ORPHA:536467
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia, Aqueductal stenosis ORPHA:93260
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Torticollis, Oligospermia, Cryptorchidism, Varicose veins OMIM:314300
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress OMIM:183900
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Epididymitis, Neoplasm, Prostatitis OMIM:300755
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage, Meningioma, Hemangioma, Choroidal hemangioma, Neuroma, Venous malformation ORPHA:221061
Schinzel-Giedion Syndrome
Failure to thrive in infancy, Neural tube defect, Respiratory distress, Recurrent pneumonia, Hypo... ORPHA:798
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Venous malformation, Lymphedema OMIM:613089
Igg4-Related Kidney Disease
Abnormal aortic morphology, Abnormality of the anterior pituitary, Pericarditis, Abnormality of m... ORPHA:449395
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Prostatitis, Epididymitis, Decreased response to growth hormone stimulatio... OMIM:307200
Tick-Borne Encephalitis
Abnormal cranial nerve morphology, Skeletal muscle atrophy, Abnormal glossopharyngeal nerve morph... ORPHA:297
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Neonatal respiratory distress, Respiratory acidosis, Erythema, Respiratory distress, Fragile skin... OMIM:614748
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Occipital Horn Syndrome
High, narrow palate, Long philtrum, Coarse hair, Esophagitis, Hepatitis, Exostoses, Thick hair, V... ORPHA:198
Behcet Syndrome
Epididymitis, Raynaud phenomenon, Genital ulcers, Oral ulcer, Patchy alopecia OMIM:109650
Cocaine Intoxication
Wheezing, Tachypnea, Pneumothorax, Cough, Respiratory distress, Hyperventilation ORPHA:90068
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Autoimmune Polyendocrinopathy Type 3
Autoimmune hypoparathyroidism, Anterior pituitary dysgenesis, Atrophic gastritis, Celiac disease,... ORPHA:227982
Aortic Arch Interruption
Tachypnea, Exertional dyspnea, Cyanosis, Respiratory distress ORPHA:2299
Severe Generalized Junctional Epidermolysis Bullosa
Stridor, Pneumonia, Failure to thrive, Pneumothorax, Respiratory distress, Fragile skin, Respirat... ORPHA:79404
Hutchinson-Gilford Progeria Syndrome
Weight loss, Pulmonary arterial hypertension, Upper airway obstruction, Prominent superficial blo... ORPHA:740
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Nail dystrophy, A... ORPHA:293978
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Celiac disease, Xerostomia, Aplasia/Hypoplasia of the spleen, Alopecia, Hepat... ORPHA:227990
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Small for gestational age, Failure to thrive, Anterior pituitary agenesis, Respiratory distress, ... ORPHA:2255
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Abnormality of the anterior pituitary, Hyperintensity of cerebral white matter... ORPHA:438213
Dermatomyositis
Cutaneous photosensitivity, Respiratory insufficiency, Weight loss, Pulmonary arterial hypertensi... ORPHA:221
Woodhouse-Sakati Syndrome
Fine hair, Abnormal T-wave, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogo... OMIM:241080
Osteoglophonic Dysplasia
Failure to thrive, Respiratory distress OMIM:166250
Generalized Arterial Calcification Of Infancy
Failure to thrive in infancy, Pulmonary arterial hypertension, Encephalomalacia, Respiratory dist... ORPHA:51608
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Rhinitis, Respiratory distress, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles OMIM:305100
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Carotid cavernous fistula, Alopecia of scalp, Premature loss of teeth, Cystocele... OMIM:130050
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia OMIM:223900
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Respiratory distress, Microcephaly, Diffuse cerebral atrophy ORPHA:83617
Norrie Disease
Optic atrophy, Uterine rupture, Abnormality of the diencephalon, Thin vermilion border, Cerebral ... ORPHA:649
Kasabach-Merritt Syndrome
Respiratory distress, Petechiae, Purpura, Hypopnea ORPHA:2330
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Coccidioidomycosis
Pneumonia, Cough, Pleural empyema, Respiratory distress, Hydrocephalus, Exudative pleural effusion ORPHA:228123
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Microcephaly OMIM:616268
Eisenmenger Syndrome
Wheezing, Hypoxemia, Pulmonary arterial hypertension, Exertional dyspnea, Respiratory distress, C... ORPHA:97214
Listeriosis
Respiratory failure, Respiratory distress, Pneumonia, Jaundice ORPHA:533
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Doors Syndrome
Arrhinencephaly, Sirenomelia, Respiratory distress, Polymicrogyria, Aspiration pneumonia, Spina b... ORPHA:79500
Postinfectious Vasculitis
Palpable purpura, Pneumonia, Weight loss, Vasculitis in the skin, Acrocyanosis, Cutis marmorata ORPHA:48435
Varicose Veins
Varicose veins OMIM:192200
Hypothyroidism, Congenital, Nongoitrous, 2
Ectopic thyroid, Congenital hypothyroidism, Goiter, Macroglossia, Thyroid hypoplasia, Bradycardia... OMIM:218700
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Renal cyst, Varicose veins, Thick vermilion border, Nephroblastoma OMIM:617107
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome