Gene Summary

Name:
receptor-associated protein of the synapse
Synonyms:
Raps,  Nraps,  rapsyn,  43kDa acetylcholine receptor-associated protein

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 Rapsntm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating HDL cholesterol level Rapsntm1b(EUCOMM)Wtsi HET Early adult 2.68×10-06

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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

10 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

MicroCT E18.5

Embryo reconstruction

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Fatigable weakness of neck muscles, Decreased miniature endplate potentials, Facial pal... ORPHA:98913
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Gowers sign, Generalized muscle weakness OMIM:616326
Fetal Akinesia Deformation Sequence 2
OMIM:618388
Fetal Akinesia Deformation Sequence
ORPHA:994

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ophthalmoparesis, Respiratory distress, Limb muscle weakness, Fatigable weakness, Bulbar palsy, R... OMIM:605809
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Myasthenic Syndrome, Congenital, 6, Presynaptic
Ophthalmoparesis, Respiratory distress, Fatigable weakness, Bulbar palsy, Respiratory insufficien... OMIM:254210
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy OMIM:254120
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials OMIM:616321
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Frontalis muscle weakness, Respiratory insufficiency due to m... OMIM:300580
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Abnormal motor nerve conduction velocity, Diaphragmatic weakness, Poor head... OMIM:614399
Succinic Acidemia
Respiratory distress OMIM:600335
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Shoulder girdle muscle weakness, Decreased compound muscle action potential amplitude, Bulbar pal... OMIM:603511
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea ORPHA:141152
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ophthalmoparesis, Respiratory distress, Generalized muscle weakness, Progressive external ophthal... ORPHA:254875
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Generalized muscle weakness ORPHA:238329
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth OMIM:619751
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Brown-Vialetto-Van Laere Syndrome 1
External ophthalmoplegia, Respiratory distress, Nocturnal hypoventilation, Neck muscle weakness, ... OMIM:211530
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Foot dorsiflexor weakness, Paradoxical respiration, Diaphragmatic paralysis... OMIM:620011
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... OMIM:615703
Congenital Myasthenic Syndromes With Glycosylation Defect
Favorable response of weakness to acetylcholine esterase inhibitors, Abnormal peripheral nervous ... ORPHA:353327
Myopathy And Diabetes Mellitus
Weakness of orbicularis oculi muscle, Shoulder girdle muscle weakness, Respiratory distress, Prog... ORPHA:2596
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Perching Syndrome
Cyanosis OMIM:617055
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Breath-Holding Spells
Cyanosis OMIM:607578
Gaucher Disease Type 2
Respiratory distress, Ophthalmoplegia, Abnormal pattern of respiration ORPHA:77260
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Adult Intestinal Botulism
Dyspnea, Muscle weakness, Diaphragmatic paralysis, Respiratory insufficiency due to muscle weakness ORPHA:178487
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Proximal muscle weakness, Triceps weakness, Limb-girdle muscle weakness, Dy... ORPHA:86812
Van Den Bosch Syndrome
Anhidrotic ectodermal dysplasia, Unfavorable response of muscle weakness to acetylcholine esteras... ORPHA:3417
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Fatigable weakness of neck muscles, Decreased miniature endplate potentials, Facial pal... ORPHA:98913
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Respiratory distress, Proximal muscle weakness, Generaliz... ORPHA:1145
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Respiratory dis... OMIM:620375
Immunodeficiency 95
Respiratory distress OMIM:619773
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Respiratory distress, Death in infancy, Tachypnea, Poor head control, Muscle weakness OMIM:614299
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Optic atrophy, Death in childhood OMIM:615597
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Optic atrophy ORPHA:26792
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Prolonged miniature endplate currents OMIM:603034
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Decreased miniature endplate potentials OMIM:608930
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea ORPHA:1832
Laryngomalacia
Respiratory distress OMIM:150280
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Muscle weakness, Respiratory insufficiency due to muscle weakness OMIM:613561
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Optic atrophy, Death in infancy OMIM:615042
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Central apnea, Diaphragmatic paralysis ORPHA:70589
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Muscle weakness ORPHA:254864
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Upper limb muscle weakness, Lower limb muscle weakness, Respiratory insuffi... ORPHA:1143
Synaptic Congenital Myasthenic Syndromes
Ophthalmoparesis, Respiratory distress, Neck muscle weakness, Hypoventilation, Generalized muscle... ORPHA:98915
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... OMIM:207750
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Chronic Pneumonitis Of Infancy
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions ORPHA:91359
Malaria
Respiratory distress ORPHA:673
X-Linked Centronuclear Myopathy
Respiratory distress, Fatigable weakness of bulbar muscles, Fatigable weakness of swallowing muscles ORPHA:596
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Muscle weakness OMIM:616733
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Myotonic Dystrophy 1
Respiratory distress, Facial diplegia, Muscle weakness OMIM:160900
Folinic Acid-Responsive Seizures
Respiratory distress, Optic atrophy, Apnea ORPHA:79097
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, External ophthalmoplegia OMIM:612075
Pleural Mesothelioma
Respiratory distress, Dyspnea ORPHA:50251
Stt3B-Cdg
Respiratory distress, Optic atrophy ORPHA:370924
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Progressive muscle weakness, Muscle weakness, Proximal muscle weakness OMIM:620166
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Congenital Myasthenic Syndrome
Neck muscle weakness, Intermittent episodes of respiratory insufficiency due to muscle weakness, ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neck muscle weakness, Intermittent episodes of respiratory insufficiency due to muscle weakness, ... ORPHA:98914
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress OMIM:245590
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Familial Nasal Acilia
Respiratory distress, Dyspnea ORPHA:922
Tricuspid Atresia
Cyanosis ORPHA:1209
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea OMIM:263000
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Isolated Atp Synthase Deficiency
Respiratory distress, Optic atrophy, Muscle weakness, Ophthalmoplegia ORPHA:254913
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea ORPHA:140896
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Optic atrophy ORPHA:289916
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Death in adolescence, Progressive muscle weakness, Respir... OMIM:615512
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Optic atrophy ORPHA:79312
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Carnitine Deficiency, Systemic Primary
Respiratory distress, Muscle weakness, Proximal muscle weakness OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Ophthalmoparesis, Respiratory distress, Death in childhood, Exertional dyspnea, Re... OMIM:220110
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Shoulder girdle muscle... ORPHA:206436
Tetanus
Respiratory distress, Autonomic bladder dysfunction, Tachypnea, Abnormal autonomic nervous system... ORPHA:3299
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Oculopharyngodistal Myopathy 1
External ophthalmoplegia, Ophthalmoparesis, Respiratory distress, Foot dorsiflexor weakness, Prox... OMIM:164310
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea, Dyspnea ORPHA:60032
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys... OMIM:610921
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Optic atrophy, Dyspnea, Muscle flaccidity ORPHA:2707
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Optic atrophy OMIM:608799
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Neonatal death OMIM:300219
Idiopathic Camptocormia
Abnormal synaptic transmission at the neuromuscular junction, Amyotrophic lateral sclerosis, Fati... ORPHA:1320
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Death in infancy, Neonatal death OMIM:265120
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Degeneration of anterior horn cells OMIM:271225
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Optic atrophy, Poor head control ORPHA:329178
Congenital Diaphragmatic Hernia
Respiratory distress ORPHA:2140
Mercury Poisoning
Respiratory distress, Dyspnea, Generalized muscle weakness ORPHA:330021
Hsd10 Disease, Infantile Type
Optic atrophy, Cyanosis ORPHA:391428
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea ORPHA:264675
Nipah Virus Disease
Respiratory distress ORPHA:99825
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia ORPHA:70587
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Acute Lung Injury
Respiratory distress, Tachypnea, Dyspnea ORPHA:178320
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress ORPHA:100057
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Dyspnea ORPHA:411703
Congenital Heart Block
Cyanosis ORPHA:60041
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Biotinidase Deficiency
Optic atrophy, Respiratory distress, Apnea, Limb muscle weakness, Hyperventilation, Optic neuropathy ORPHA:79241
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Irregular respiration OMIM:604377
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Abnormal cranial nerve morphology ORPHA:990
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Cyanosis OMIM:261680
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Poor head control OMIM:615595
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility ORPHA:335
Asbestos Intoxication
Oxygen desaturation on exertion, Hypoxemia, Cyanosis ORPHA:2302
Moebius Syndrome
Respiratory distress, Facial diplegia OMIM:157900
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Hyperlipoproteinemia, Type I
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... OMIM:238600
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea ORPHA:2759
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Muscle weakness, Neonatal death OMIM:231680
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Poor head control OMIM:619272
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Decreased nerve conduction velocity, Decreased amplitude of sensory action ... OMIM:618733
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea ORPHA:142
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Japanese Encephalitis
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Muscle flaccidity, ... ORPHA:79139
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Avian Influenza
Respiratory distress, Tachypnea, Dyspnea, Miscarriage ORPHA:454836
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Proximal muscle weakness, Generalized muscle weakness, Respiratory insuffic... ORPHA:308552
Dravet Syndrome
Cyanotic episode ORPHA:33069
Primary Pulmonary Hypoplasia
Hypoxemia, Cyanosis ORPHA:2257
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Respiratory distress, Generalized muscle weakness, Diaphragmatic weak... ORPHA:365
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Abnormal neuron branching ORPHA:367
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Optic atrophy OMIM:619383
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in childhood, Death in infancy, Generalized muscle weakness OMIM:620278
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress OMIM:250940
Slc35A1-Cdg
Respiratory distress ORPHA:238459
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Muscle weakness OMIM:251000
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Chiari Malformation Type Ii
Cyanosis OMIM:207950
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Galactokinase Deficiency
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma ORPHA:79237
Laron Syndrome
Hypercholesterolemia ORPHA:633
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Fatigable weakness of skeletal muscles OMIM:617239
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Chitayat Syndrome
Respiratory distress OMIM:617180
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Tularemia
Respiratory distress ORPHA:3392
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Tachypnea, Dyspnea ORPHA:36238
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Alfadhel Syndrome
Nasal flaring OMIM:620655
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis ORPHA:79126
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Ciliary Dyskinesia, Primary, 2
Respiratory distress OMIM:606763
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Mogs-Cdg
Optic atrophy, Respiratory distress, Apnea, Hypoventilation, Absent brainstem auditory responses ORPHA:79330
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia ORPHA:860
Cryptococcosis
Respiratory distress, Abnormal cranial nerve morphology, Limb muscle weakness, Ophthalmoplegia, D... ORPHA:1546
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Neonatal death OMIM:616482
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Dysbetalipoproteinemia
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... ORPHA:412
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Hypoventilation ORPHA:314655
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress ORPHA:141083
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth OMIM:151210
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Optic atrophy, Death in childhood OMIM:617303
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... OMIM:278000
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Gowers sign, Generalized muscle weakness OMIM:616326
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress ORPHA:226313
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Choanal Atresia
Cyanosis ORPHA:137914
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Ophthalmoparesis, Apnea, Episodic respiratory distress, Dyspnea, Hyperventilation,... ORPHA:255210
Meconium Aspiration Syndrome
Respiratory distress ORPHA:70588
Agnathia-Otocephaly Complex
Respiratory distress OMIM:202650
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress OMIM:617895
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Tetrasomy 5P
Cyanosis ORPHA:3309
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Limb muscle weakness, Axial muscle weakness, Ophthalmoplegia, Gowers sign OMIM:620369
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Sepsis In Premature Infants
Cyanosis, Jaundice, Purpura, Petechiae ORPHA:90051
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Neonatal death OMIM:608013
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Tachypnea OMIM:610978
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy OMIM:618426
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Optic atrophy ORPHA:1555
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia ORPHA:2457
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis ORPHA:159
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachypnea ORPHA:26793
Pulmonary Arteriovenous Malformation
Telangiectasia, Cyanosis, Hypoxemia ORPHA:2038
Double Outlet Right Ventricle
Cyanosis ORPHA:3426
Necrotizing Enterocolitis
Cyanosis ORPHA:391673
Criss-Cross Heart
Cyanosis ORPHA:1461
Kniest Dysplasia
Respiratory distress OMIM:156550
Craniofaciofrontodigital Syndrome
Respiratory distress, Dyspnea ORPHA:363705
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Rodrigues Blindness
Nasal flaring OMIM:268320
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Optic neuropathy, Cyanosis, Death in infancy OMIM:252010
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Diaphanospondylodysostosis
Respiratory distress OMIM:608022
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress OMIM:607143
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Congenital Tricuspid Valve Dysplasia
Cyanosis, Hypoxemia ORPHA:555874
Pulmonary Alveolar Microlithiasis
Cyanosis, Oxygen desaturation on exertion, Hypoxemia, Fatigable weakness ORPHA:60025
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Tachypnea, Dyspnea OMIM:610913
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:1051
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Episodic respiratory distress, Ophthalmoplegia, Tachypnea, Facia... ORPHA:31826
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Achondroplasia
Respiratory distress, Death in infancy OMIM:100800
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Cutis marmorata, Purpura, Urticaria ORPHA:183
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Congenital Enterovirus Infection
Respiratory distress ORPHA:292
Neuroblastoma
Respiratory distress, Horner syndrome ORPHA:635
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress ORPHA:2519
Osteogenesis Imperfecta, Type X
Respiratory distress, Death in childhood OMIM:613848
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Optic atrophy OMIM:123790
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Meckel Syndrome 14
Cyanosis OMIM:619879
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress OMIM:616271
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Lujo Hemorrhagic Fever
Respiratory distress, Muscle weakness ORPHA:319213
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Abnormal autonomic nervous system physiology ORPHA:2131
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Aganglionic megacolon ORPHA:210122
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Radio-Renal Syndrome
Respiratory distress, Dyspnea ORPHA:3015
Poems Syndrome
Papilledema, Acrocyanosis, Plethora ORPHA:2905
Tarp Syndrome
Optic atrophy, Cyanosis ORPHA:2886
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Progressive muscle weakness, Distal muscle weakness OMIM:256810
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress OMIM:217980
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia OMIM:620454
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea ORPHA:100050
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress OMIM:620306
Bacterial Toxic-Shock Syndrome
Respiratory distress, Tachypnea ORPHA:36234
Farber Disease
Respiratory distress ORPHA:333
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Familial Dysautonomia
Optic atrophy, Acrocyanosis, Orthostatic hypotension ORPHA:1764
Multiple Mitochondrial Dysfunctions Syndrome 7
Cyanosis OMIM:620423
Cardiogenic Shock
Cyanosis, Hypoxemia ORPHA:97292
Q Fever
Respiratory distress, Muscle weakness ORPHA:781
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... ORPHA:470
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Orthostatic hypotension OMIM:223900
Pfeiffer Syndrome Type 2
Respiratory distress ORPHA:93259
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress OMIM:183900
Hyperoxaluria, Primary, Type I
Optic atrophy, Cutis marmorata, Acrocyanosis, Optic neuropathy OMIM:259900
Complete Atrioventricular Septal Defect
Cyanosis ORPHA:1329
Pfeiffer Syndrome Type 3
Respiratory distress ORPHA:93260
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress OMIM:300968
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Optic atrophy ORPHA:505248
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Peripapillary atrophy ORPHA:536467
Histiocytoid Cardiomyopathy
Optic atrophy, Cyanosis ORPHA:137675
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea ORPHA:3342
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy OMIM:617156
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Unilateral Polymicrogyria
Cyanosis, Giant somatosensory evoked potentials ORPHA:268943
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Mgat2-Cdg
Respiratory distress ORPHA:79329
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Atrial Septal Defect, Ostium Primum Type
Cyanosis ORPHA:99106
Myasthenia Gravis
Acrocyanosis ORPHA:589
Prader-Willi Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:176270
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Optic atrophy ORPHA:79282
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Telangiect... OMIM:187300
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Brain-Lung-Thyroid Syndrome
Respiratory distress ORPHA:209905
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Dyspnea, Muscle weakness ORPHA:3260
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea ORPHA:17
Prader-Willi Syndrome Due To Translocation
Respiratory distress ORPHA:177907
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Dyspnea, Muscle weakness ORPHA:340
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy OMIM:224690
Primary Hyperoxaluria
Optic atrophy, Optic disc pallor, Cutis marmorata, Acrocyanosis ORPHA:416
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Decreased sensory nerve conduction velocity OMIM:615273
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress ORPHA:37042
Shwachman-Diamond Syndrome 1
Respiratory distress OMIM:260400
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Conjunctival telangiectasia, Palate... OMIM:610655
Cocaine Intoxication
Respiratory distress, Hyperventilation, Tachypnea ORPHA:90068
Esophageal Atresia
Cyanosis ORPHA:1199
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia ORPHA:275761
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Colchicine Poisoning
Respiratory distress ORPHA:31824
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hypercholesterolemia, Calcinosis OMIM:248370
Kasabach-Merritt Phenomenon
Respiratory distress, Hypopnea ORPHA:2330
Isolated Arrhinia
Respiratory distress ORPHA:1134
Double Outlet Left Ventricle
Cyanosis ORPHA:3427
Listeriosis
Respiratory distress, Miscarriage ORPHA:533
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Abnormal autonomic nervous system physiology ORPHA:3206
Adnp Syndrome
Respiratory distress ORPHA:404448
Pitt-Hopkins Syndrome
Aganglionic megacolon, Acrocyanosis ORPHA:2896
Congenital Tracheomalacia
Cyanosis ORPHA:95430
Toxic Epidermal Necrolysis
Respiratory distress ORPHA:537
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79259
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Arboleda-Tham Syndrome
Respiratory distress, Optic atrophy OMIM:616268
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea ORPHA:2554
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Abnormal autonomic nervous system physiology ORPHA:293987
Absence Of The Pulmonary Artery
Hypocapnia, Cyanosis ORPHA:980
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Vasculitis in the skin, Abnormality of the peripheral nervous ...