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Gene: Pdpn MGI:103098

Gene Summary

Name:

podoplanin

Synonyms:

PA2.26, OTS-8, T1alpha, T1a, RANDAM-2, Gp38

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	Allele	Zyg	Life Stage	P Value
absent vibrissae	Pdpn^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.96×10^-08
increased circulating cholesterol level	Pdpn^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.86×10^-05
preweaning lethality, incomplete penetrance	Pdpn^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating calcium level	Pdpn^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.47×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Wholemount images	heterozygote	100% (2 of 2)
Bone	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Cartilage tissue	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Eye	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	100% (2 of 2)
Lymph node	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Prostate gland	Wholemount images	heterozygote	50% (1 of 2)
Skin	Wholemount images	heterozygote	50% (1 of 2)
Small intestine	Wholemount images	heterozygote	50% (1 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Trachea	Wholemount images	heterozygote	100% (2 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Aorta	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)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	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)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Pancreas	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)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	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	100% (2 of 2)
Brain	N/A	homozygote	100% (2 of 2)
Ear	N/A	heterozygote	50% (1 of 2)
Ear	N/A	homozygote	50% (1 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Eye	N/A	homozygote	100% (2 of 2)
Footplate	N/A	heterozygote	Ambiguous
Footplate	N/A	homozygote	Ambiguous
Forebrain	N/A	heterozygote	100% (2 of 2)
Forebrain	N/A	homozygote	100% (2 of 2)
Forelimb	N/A	heterozygote	100% (2 of 2)
Forelimb	N/A	homozygote	100% (2 of 2)
Handplate	N/A	heterozygote	Ambiguous
Handplate	N/A	homozygote	Ambiguous
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	100% (2 of 2)
Heart	N/A	heterozygote	50% (1 of 2)
Heart	N/A	homozygote	50% (1 of 2)
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	homozygote	100% (2 of 2)
Hindlimb	N/A	heterozygote	100% (2 of 2)
Hindlimb	N/A	homozygote	100% (2 of 2)
Liver	N/A	heterozygote	50% (1 of 2)
Liver	N/A	homozygote	50% (1 of 2)
Lung	N/A	heterozygote	50% (1 of 2)
Lung	N/A	homozygote	50% (1 of 2)
Mandibular process	N/A	heterozygote	50% (1 of 2)
Mandibular process	N/A	homozygote	50% (1 of 2)
Maxillary process	N/A	heterozygote	50% (1 of 2)
Maxillary process	N/A	homozygote	50% (1 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Midbrain	N/A	homozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	50% (1 of 2)
Oral cavity	N/A	homozygote	50% (1 of 2)
Skin	N/A	heterozygote	50% (1 of 2)
Skin	N/A	homozygote	50% (1 of 2)
Tail somite	N/A	heterozygote	Not available
Tail somite	N/A	homozygote	50% (1 of 2)
Tail	N/A	heterozygote	100% (2 of 2)
Tail	N/A	homozygote	100% (2 of 2)

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 Whole Body Lateral Orientation

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Adult LacZ

LacZ Images Wholemount

19 Images

View images

Echo

M-Mode Images

36 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

MicroCT E18.5

Embryo reconstruction

3 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

Auditory Brain Stem Response

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

5 Images

View images

Human diseases caused by Pdpn mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Pdpn (1 diseases)
Human diseases predicted to be associated with Pdpn (944 diseases)

The table below shows human diseases associated to Pdpn by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
1P36 Deletion Syndrome		Aortic arch aneurysm, Abnormal heart valve morphology, Camptodactyly of finger, Patent ductus art...	ORPHA:1606

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

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Asbestos Intoxication	Edema, Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular in...	ORPHA:2302
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Angioedema, Hereditary, 3	Facial edema, Angioedema, Intestinal edema, Pharyngeal edema	OMIM:610618
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Acute Interstitial Pneumonia	Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri...	ORPHA:79126
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve...	ORPHA:70589
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Death in adolescence, Cardiomyocyte hypertrophy, Left ...	OMIM:612158
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Adamantinoma	Hypercalcemia	ORPHA:55881
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal...	ORPHA:70587
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm...	OMIM:267450
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy...	OMIM:601493
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia...	ORPHA:70588
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615396
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Hydrops Fetalis	Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnorma...	ORPHA:1041
Lymphatic Malformation 12	Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascit...	OMIM:620014
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615373
Follicular Lymphoma	Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleural effusion	ORPHA:545
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,...	ORPHA:2902
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys...	OMIM:265120
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Yellow Nail Syndrome	Recurrent respiratory infections, Sinusitis, Lymphedema, Dyspnea, Bronchiectasis, Neoplasm of the...	ORPHA:662
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f...	OMIM:619773
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Tricuspid regurgitation, Cyanosis, Congestive heart failure, Splenomegaly, ...	ORPHA:2414
Meige Disease	Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Lymphedema, Peri...	ORPHA:90186
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Spinal Muscular Atrophy, Type I	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Lymphedema, Splenomegaly, Lymphadenopathy, Intracranial hemorrh...	ORPHA:3226
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capi...	ORPHA:199241
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Whee...	OMIM:620233
Congenital Heart Block	Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he...	ORPHA:60041
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Staphylococcal Necrotizing Pneumonia	Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pu...	ORPHA:36238
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Angioedema, Hereditary, 1	Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema	OMIM:106100
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory...	OMIM:620321
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Developmental And Epileptic Encephalopathy 40	Intrauterine growth retardation, Hyaline membranes, Lethargy	OMIM:617065
Idiopathic Pulmonary Hemosiderosis	Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Crackles, Dyspnea, Ground-glass o...	ORPHA:99931
Hereditary Angioedema Type 1	Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Facial edema, Abn...	ORPHA:100050
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opaci...	ORPHA:330012
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Predominantly lower limb lymphedema, Cutis marmorata, Palpebral edema, Ab...	ORPHA:69735
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:616081
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct...	ORPHA:79127
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova...	ORPHA:244
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac...	OMIM:252011
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Intestinal lymphangiectasia, Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Lymphedema	OMIM:616006
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Acute Lung Injury	Shock, Respiratory distress, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, A...	ORPHA:178320
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, ...	ORPHA:538
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter...	OMIM:620296
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp...	OMIM:610910
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Kaposi Sarcoma	Abnormality of the spleen, Abnormal lung morphology, Generalized lymphadenopathy, Lymphedema	ORPHA:33276
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:616501
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Lymphatic Malformation 7	Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff...	OMIM:617300
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Right bundle branch block, Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea	ORPHA:254361
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Sarcoidosis, Susceptibility To, 2	Dyspnea, Mediastinal lymphadenopathy, Pneumothorax, Splenomegaly, Bronchiectasis, Abnormal pulmon...	OMIM:612387
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Neonatal death, Death in infancy, Hypertrophic cardiomyopathy	OMIM:617184
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non...	ORPHA:1302
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Hirsutism	OMIM:612526
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc...	ORPHA:91359
Typhoid	Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Splenomegaly, Abnormal pulmonary intersti...	ORPHA:99745
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Polyhydramnios, Atelectasis, Neonatal death	OMIM:300219
Nemaline Myopathy 8	Death in infancy, Respiratory failure	OMIM:615348
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Dyspnea, Vasculitis, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abn...	ORPHA:70578
Combined Oxidative Phosphorylation Deficiency 51	Intrauterine growth retardation, Neonatal respiratory distress, Respiratory failure, Aspiration p...	OMIM:619057
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ...	ORPHA:90363
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Abnormal lung morphology, Lymphangiectasi...	ORPHA:182
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ...	ORPHA:60033
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Cardiomegaly, Death in childhood, Neonatal death, Increased variability in musc...	OMIM:614096
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immo...	OMIM:244400
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy, Respiratory insufficiency, Death in childhood	OMIM:618224
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis, Acrocyanosis	ORPHA:896
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Early Myoclonic Encephalopathy	Recurrent respiratory infections, Lethargy	ORPHA:1935
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re...	OMIM:620326
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventricular hypertro...	OMIM:619167
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Spontaneous pneumothorax, Polyhydramnios, Lymphedema	OMIM:618154
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation	ORPHA:1832
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Lymphedema And Cerebral Arteriovenous Anomaly	Pulmonary arterial hypertension, Lymphedema	OMIM:152900
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Lymphedema, Splenomegaly, Jaundice, Abnormality...	ORPHA:1414
Alpha-N-Acetylgalactosaminidase Deficiency	Recurrent pneumonia, Vascular skin abnormality, Lymphedema	ORPHA:3137
Cardiomyopathy, Dilated, 1D	Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:601494
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death	OMIM:620203
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Pallor	ORPHA:79283
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum...	OMIM:608647
Cholestasis-Lymphedema Syndrome	Splenomegaly, Jaundice, Lymphedema	OMIM:214900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Immunodeficiency 54	Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Respi...	OMIM:609981
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulm...	OMIM:137940
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior...	OMIM:616843
Lymphedema-Hypoparathyroidism Syndrome	Restrictive ventilatory defect, Pulmonary lymphangiectasia, Lymphedema	OMIM:247410
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Lethargy, Redundant neck skin, Edema	OMIM:610498
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Redundant neck skin, Nonimmune hydrops fetalis, Cardiomyopathy, Pu...	OMIM:619003
Yellow Nail Syndrome	Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Lymphedema	OMIM:153300
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Evans Syndrome	Epistaxis, Dyspnea, Jaundice, Syncope, Pallor, Lethargy, Bruising susceptibility, Petechiae	ORPHA:1959
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch...	OMIM:613490
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot...	ORPHA:2257
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven...	ORPHA:1344
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Hypertrophic cardiomyopathy, Death in childhood	OMIM:618683
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in...	ORPHA:60025
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, P...	ORPHA:568051
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Conge...	ORPHA:454836
Lymphatic Malformation 1	Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hypo...	OMIM:153100
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure	OMIM:225753
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Neonatal respiratory distress, Lethargy	ORPHA:254857
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv...	ORPHA:137667
Scedosporiosis	Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Abnormal respiratory syst...	ORPHA:449280
Lissencephaly 7 With Cerebellar Hypoplasia	Neonatal death, Death in infancy, Lymphedema	OMIM:616342
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Lymphatic Malformation 9	Tortuous lymphatic vessels, Predominantly lower limb lymphedema	OMIM:619319
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Intrauterine growth retardation, Lethargy, Cardiomyopathy	ORPHA:26792
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Lymphatic Filariasis	Predominantly lower limb lymphedema, Lymphedema, Lymphadenitis, Abnormal lung morphology, Wheezin...	ORPHA:2035
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Death in infancy, Redundant skin, Progeroid facial appearance, Periorbital edem...	OMIM:613177
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Abnormal pleura morphology, Lymphedema, Splenomegaly, Hydrops f...	ORPHA:584
Pseudo-Torch Syndrome 2	Acute respiratory distress syndrome, Cerebral hemorrhage, Respiratory insufficiency, Bradycardia,...	OMIM:617397
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Redundant neck skin, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Sple...	OMIM:235255
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Pallor, Lethargy, Hypertr...	OMIM:613561
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se...	ORPHA:99106
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:615524
Complete Atrioventricular Septal Defect	Crackles, Tachypnea, Atrioventricular block, Lethargy, Abnormal EKG, Intercostal retractions, Ele...	ORPHA:1329
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Respiratory failure, Polyhydramnios	OMIM:616794
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Atelectasis, Skin ulcer, Cough, Skin vesicle, Generalized abnor...	ORPHA:2314
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory...	ORPHA:333
Lujo Hemorrhagic Fever	Shock, Respiratory distress, Generalized edema, Crackles, Facial edema, Atelectasis, Myocarditis,...	ORPHA:319213
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Lethargy, Cyanosis	ORPHA:71277
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Fetal ascites, Polyhydramnios, Splenomegaly, Jau...	OMIM:607625
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Abnormal T-wave, Dilate...	ORPHA:563
Lymphatic Malformation 3	Lymphedema	OMIM:613480
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia, Polyhydramnios	OMIM:616867
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox...	ORPHA:747
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ...	ORPHA:99103
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys...	ORPHA:133
Chylous Ascites	Ascites, Lymphedema	ORPHA:1160
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Lymphatic Malformation 4	Prominent superficial veins, Pedal edema, Lymphedema	OMIM:615907
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:245400
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angioedema, Erythema, In...	ORPHA:449285
Congenital Arthrogryposis With Anterior Horn Cell Disease	Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:611890
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Telangiectasia of the skin, Angiokeratoma, Angi...	ORPHA:324
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Lymphedema, Hypertrophic cardiomyopathy, Telangiectasia of the skin, Telangiectasia	ORPHA:79279
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Hemochromatosis, Type 2A	Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Lethargy, Arrhythmia	OMIM:602390
Vitamin B12-Responsive Methylmalonic Acidemia	Lethargy, Respiratory insufficiency, Dehydration	ORPHA:28
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia, Abnormality of the frontal hairline	ORPHA:557003
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis	ORPHA:91130
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Ring Chromosome 22 Syndrome	Pleural effusion, Edema, Lymphedema	ORPHA:1446
Hypophosphatasia	Hypercalcemia	ORPHA:436
Glycine Encephalopathy 1	Lethargy, Death in infancy	OMIM:605899
Febrile Infection-Related Epilepsy Syndrome	Lethargy, Sinusitis, Cough	ORPHA:163703
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Death in infancy, Splenomegaly, Intraalveolar phospholipid accu...	OMIM:618042
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Pulmonary Arteriovenous Malformation	Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Hemothorax, Heart...	ORPHA:2038
Cardiomyopathy, Dilated, 2G	Increased Z-disc width, Left atrial enlargement, Myocardial sarcomeric disarray, Myofiber disarra...	OMIM:619897
Vacterl Association With Hydrocephalus	Respiratory failure, Stillbirth, Respiratory insufficiency	OMIM:276950
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert...	OMIM:619751
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Sick Sinus Syndrome 2	Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse	OMIM:163800
Lymphatic Malformation 5	Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema	OMIM:153200
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arrest, Ascites, H...	ORPHA:99828
Hepatic Veno-Occlusive Disease	Jaundice, Ascites, Respiratory failure	ORPHA:890
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Aspiration, Respiratory insufficiency, Cardiomyopathy, Respiratory ...	ORPHA:258
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Recurre...	OMIM:604571
Combined Oxidative Phosphorylation Deficiency 52	Lethargy, Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy	OMIM:619386
Fabry Disease	Angina pectoris, Angiokeratoma, Myocardial infarction, Transient ischemic attack, Lymphedema, Con...	OMIM:301500
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Lymphadenitis, Recurrent pneumonia, Splenomegaly, Lymphadenopathy, Air bronchogram, ...	OMIM:306400
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Cinca Syndrome	Hepatosplenomegaly, Lymphadenopathy, Lymphedema	OMIM:607115
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Endocardial fibroelastosis	OMIM:276822
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Distal Xq28 Microduplication Syndrome	Predominantly lower limb lymphedema, Epistaxis, Asthma, Recurrent upper respiratory tract infecti...	ORPHA:293939
Gaba-Transaminase Deficiency	Lethargy, Death in childhood	OMIM:613163
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Lissencephaly 2	Lymphedema	OMIM:257320
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Splenomegaly, Dehydration, Cardiomyopathy, Lethargy	ORPHA:79312
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie...	OMIM:614299
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Abnormal heart morphology, Small thenar eminence, Neonatal death	OMIM:613390
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left...	ORPHA:542323
Nephronophthisis 2	Respiratory insufficiency, Hypertension, Respiratory failure, Pulmonary hypoplasia, Pulmonary ins...	OMIM:602088
Alpha-Heavy Chain Disease	Alopecia, Hypocalcemia	ORPHA:100025
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Bronchitis, Intraventricular...	ORPHA:420741
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy, Hypertrophic cardiomyopathy, Apnea, Respiratory insufficiency	OMIM:618228
Infantile Myofibromatosis	Abnormal hair morphology, Hypercalcemia	ORPHA:2591
Short-Rib Thoracic Dysplasia 12	Polyhydramnios, Edema, Atelectasis, Splenomegaly, Respiratory insufficiency, Pulmonary hypoplasia...	OMIM:269860
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardi...	OMIM:235510
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Homocystinuria Without Methylmalonic Aciduria	Lethargy	ORPHA:622
Long Qt Syndrome 15	Left ventricular noncompaction	OMIM:616249
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Prolonged QRS complex, Apnea, Pericardial effusion, Shortened PR interval, ...	OMIM:261740
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy, Ventricular septal defect	OMIM:613730
Breath-Holding Spells	Cyanosis, Pallor	OMIM:607578
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy, Apnea, Death in childhood	OMIM:618225
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tricuspid regurgitation, Pericardia...	ORPHA:555874
Scrub Typhus	Myocarditis, Dyspnea, Splenomegaly, Lymphadenopathy, Restrictive ventilatory defect, Hypotension,...	ORPHA:83317
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Pallor, Lethargy	ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Polyhydramnios, Cardiomyopathy, Respiratory failure, Stillbirth, Death in child...	OMIM:614922
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Respiratory insufficiency	OMIM:313420
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Lethargy, Hypertrophic cardiomyopathy	ORPHA:276556
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur...	ORPHA:439
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy, Hypertrophic cardiomyopathy, Death in childhood	OMIM:246900
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy, Breathing dysregulation, Hypoventilation	OMIM:618232
Hyperekplexia 4	Respiratory failure	OMIM:618011
Zygomycosis	Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Hematemesis, Atelectasis, Myocar...	ORPHA:73263
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Methylmalonic Acidemia With Homocystinuria	Lethargy	ORPHA:26
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure	OMIM:618240
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal EKG, Cyanosis, Atrial flutter, Tachycardia, Atrial fib...	ORPHA:980
Infantile Systemic Hyalinosis	Telangiectasia of the skin, Lymphedema, Skin ulcer, Urticaria, Aplasia/Hypoplasia of the thymus	ORPHA:2176
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Cyanosis, Left-to-right shunt, Pneumonia, Abnormally loud pulmonic component...	ORPHA:99104
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Pulmonary arterial hypertension, Death in infancy, Lethargy, Death in childhood	OMIM:619064
Cholera	Tachycardia, Miscarriage, Tachypnea, Dehydration, Hypovolemic shock, Hypotension, Aspiration pneu...	ORPHA:173
Cronkhite-Canada Syndrome	Splenomegaly, Lymphedema	ORPHA:2930
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Tachycardia, Pallor	ORPHA:276608
Hennekam Syndrome	Recurrent respiratory infections, Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymph...	ORPHA:2136
Noonan Syndrome 13	Mitral regurgitation, Bruising susceptibility, Dry skin, Lymphedema	OMIM:619087
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Cutis laxa	OMIM:614100
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Respiratory distress, Tachycardia, Pneumonia, Episodic tachypnea, Pericard...	ORPHA:26793
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Lethargy, Hypertrophic cardiomyopathy	ORPHA:276575
Lymphedema, Primary, With Myelodysplasia	Lymphedema	OMIM:614038
Idiopathic Congenital Hypothyroidism	Facial edema, Lethargy, Bradycardia, Prolonged neonatal jaundice	ORPHA:95717
Larsen-Like Syndrome, Lethal Type	Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Tracheomalacia, Pulmonary insuff...	OMIM:245650
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Lethargy, Hypertrophic cardiomyopathy	ORPHA:276580
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Greenberg Dysplasia	Lymphedema	ORPHA:1426
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Hepatospleno...	OMIM:618278
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy	OMIM:274270
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure, Intrauterine growth retardation	OMIM:610678
Pontocerebellar Hypoplasia, Type 6	Lethargy, Apnea, Death in childhood	OMIM:611523
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Cyanosis, Tachycardia, Atrial fibrillation, Junct...	ORPHA:137675
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory failure	ORPHA:2759
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach...	ORPHA:137914
Cutis Laxa-Marfanoid Syndrome	Emphysema, Redundant skin	ORPHA:171719
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Eosinophilic Granulomatosis With Polyangiitis	Nasal polyposis, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pleura morphology...	ORPHA:183
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure, Predominantly lower limb lymphedema	ORPHA:261519
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Facial erythema	OMIM:618307
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Oculoskeletodental Syndrome	Hypercalcemia, Low anterior hairline, Hypocalcemia, Low posterior hairline	OMIM:618440
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia	OMIM:619699
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor, Lethargy	OMIM:500007
2P21 Microdeletion Syndrome	Long eyelashes, Hypocalcemia	ORPHA:163693
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory tract infection, Atelecta...	ORPHA:365
Buerger Disease	Vasculitis, Acrocyanosis, Skin ulcer	ORPHA:36258
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi...	OMIM:614370
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec...	ORPHA:308552
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Lethargy	ORPHA:324575
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Arrhythmia	OMIM:153400
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Cyanosis, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract ob...	ORPHA:860
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Oligohydramnios, Atrial flutter, Hydrops fetalis, Lymphedema	OMIM:601927
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory failure, Respiratory insufficiency	ORPHA:370968
Monosomy 18P	Hypertension, Lymphedema	ORPHA:1598
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenitis, Recurrent upper re...	ORPHA:51636
Carnitine Deficiency, Systemic Primary	Respiratory distress, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgitation...	OMIM:212140
Melorheostosis	Lymphedema	ORPHA:2485
Campomelia, Cumming Type	Polysplenia, Lymphedema	OMIM:211890
Multiple Mitochondrial Dysfunctions Syndrome 3	Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency, Polyhydramnios	OMIM:615330
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Meacham Syndrome	Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Neonatal death, Atrial septal defect...	OMIM:608978
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lethargy, Apnea, Respiratory insufficiency	OMIM:618226
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Severe Canavan Disease	Lethargy	ORPHA:314911
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Congestive heart failure, Respiratory failure, Arrhythmia, Intrauterine growth ...	ORPHA:1194
Al-Gazali-Bakalinova Syndrome	Lymphedema	OMIM:607131
Campomelia, Cumming Type	Death in infancy, Prematurely aged appearance, Lymphedema, Hydrops fetalis, Oligohydramnios	ORPHA:1318
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neovascularization	ORPHA:891
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Lethargy, Dehydration, Respiratory insufficiency	ORPHA:27
Intermediate Nemaline Myopathy	Cardiomyopathy, Respiratory failure, Polyhydramnios	ORPHA:171433
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric...	ORPHA:444013
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Acquired Methemoglobinemia	Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Sepsis In Premature Infants	Tachycardia, Cyanosis, Abnormal mucociliary clearance, Edema, Dyspnea, Jaundice, Nasal flaring, S...	ORPHA:90051
Alpha-1-Antitrypsin Deficiency	Emphysema, Jaundice	ORPHA:60
German Syndrome	Lymphedema	ORPHA:2077
Cantu Syndrome	Pericardial effusion, Lymphedema	OMIM:239850
Goodpasture Syndrome	Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Ground-glass opacification, Increased DLCO...	OMIM:233450
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Dermatomyositis	Myocardial infarction, Edema, Periorbital edema, Diffuse reticular or finely nodular infiltration...	ORPHA:221
Thymic Neuroendocrine Tumor	Increased circulating cortisol level, Hypercalcemia	ORPHA:97289
Benign Samaritan Congenital Myopathy	Lethargy, Abnormal respiratory system physiology	ORPHA:324581
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Lethargy	OMIM:237310
Double Outlet Right Ventricle	Tachycardia, Cyanosis, Tachypnea, Heart murmur, Pulmonic stenosis, Pulmonary artery atresia, Apla...	ORPHA:3426
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Supraventricul...	ORPHA:97214
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Respiratory insufficiency, Res...	OMIM:609015
Ogden Syndrome	Redundant neck skin, Apnea, Redundant skin, Lymphedema, Ventricular tachycardia, Supraventricular...	OMIM:300855
Central Diabetes Insipidus	Lethargy, Dehydration, Depression	ORPHA:178029
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Tachypnea, Respiratory failure, Intrauterine growth retardation, Inspiratory stridor, Ventilator ...	OMIM:604320
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Dermal translucency, Repeated pneumothoraces, Atelectasis, Respiratory insu...	ORPHA:536467
Boutonneuse Fever	Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Respiratory failure, Petechiae	ORPHA:83313
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Lymphedema	OMIM:152950
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L...	OMIM:620067
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy, Dilated cardiomyopathy, Ventricular tachycardia, Respiratory arrest	OMIM:600649
Dohle Bodies And Leukemia	Lymphedema	OMIM:223350
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Cardiac arrest, Lethargy, Hypertrophic cardiomyopathy, In...	OMIM:604377
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Redundant neck skin, Congestive...	ORPHA:3309
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Congest...	OMIM:615512
Meningococcal Meningitis	Shock, Neonatal respiratory distress, Hypotension, Lethargy, Petechiae, Purpura	ORPHA:33475
Hypocomplementemic Urticarial Vasculitis	Pericardial effusion, Dyspnea, Angioedema, Emphysema, Splenomegaly, Lymphadenopathy, Pleural effu...	ORPHA:36412
Relapsing Polychondritis	Pericarditis, Atelectasis, Myocarditis, Erythema, Dyspnea, Large vessel vasculitis, Cough, Abnorm...	ORPHA:728
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Death in infancy, Sudden cardiac death, Respiratory arrest, Tachypnea, Reduced left ventricular e...	OMIM:201475
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia, Polyhydramnios, Edema of the dorsum of hands	ORPHA:171430
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Ventricular tachycardia, Respiratory insufficiency, Cardiomyopat...	ORPHA:159
Mercury Poisoning	Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f...	ORPHA:330021
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Apneic episodes in infancy	OMIM:610006
Thyroid Dyshormonogenesis 1	Lethargy, Dry skin	OMIM:274400
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Lymphedema, Mitral regurgitation, Neonatal death, Pulmonary arterial h...	OMIM:620244
Tenosynovial Giant Cell Tumor	Joint swelling, Lymphedema	ORPHA:66627
Milroy Disease	Predominantly lower limb lymphedema, Pedal edema, Lymphedema	ORPHA:79452
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, Mitral regurgitation, Chylothorax, ...	OMIM:613563
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia, Hirsutism	ORPHA:77296
Ogden Syndrome	Pulmonary artery stenosis, Cutis laxa, Cardiogenic shock, Arrhythmia, Lethargy	ORPHA:276432
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy, Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Propionic Acidemia	Apnea, Cerebellar hemorrhage, Tachypnea, Dehydration, Cardiomyopathy, Lethargy	OMIM:606054
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Polyhydramnios, Edema, Abnormal respiratory system p...	ORPHA:98905
Isovaleric Acidemia	Lethargy, Cerebellar hemorrhage, Dehydration	OMIM:243500
Crigler-Najjar Syndrome	Lethargy, Jaundice	ORPHA:205
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr...	OMIM:620024
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphedema	ORPHA:1116
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy, Pallor, Hepatosplenomegaly	OMIM:611590
Late-Onset Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Hyperuricemia	ORPHA:199299
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia, Lethargy	OMIM:620306
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Cardiorespiratory arrest, Premat...	OMIM:212138
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
Cog4-Cdg	Hypercholesterolemia, Thick hair	ORPHA:263501
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Classic Galactosemia	Lethargy, Jaundice, Ascites, Depression	ORPHA:79239
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Cardiomyopathy, Death in infancy	OMIM:618839
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Prematurely aged appearance, Redundant skin, Poor wound healing, Progeroid ...	OMIM:123700
Pyruvate Dehydrogenase Deficiency	Dyspnea, Intrauterine growth retardation, Tachypnea, Lethargy	ORPHA:765
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Polyhydramnios, Fetal ascites, Neonatal asphyxia, Abnormal lung m...	ORPHA:141127
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Respiratory failure, Respiratory insufficiency	OMIM:618186
Meckel Syndrome 14	Tricuspid regurgitation, Cyanosis, Increased nuchal translucency, Pneumothorax, Cardiorespiratory...	OMIM:619879
Familial Thyroid Dyshormonogenesis	Facial edema, Lethargy, Bradycardia, Prolonged neonatal jaundice	ORPHA:95716
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Respiratory fai...	OMIM:620278
Lymphedema-Distichiasis Syndrome	Arrhythmia, Predominantly lower limb lymphedema, Abnormality of the pulmonary vasculature	ORPHA:33001
Smith-Magenis Syndrome	Hypercholesterolemia, Synophrys, Hypertriglyceridemia	OMIM:182290
Lethal Congenital Contracture Syndrome 2	Polyhydramnios, Respiratory failure, Dilated cardiomyopathy, Edema	OMIM:607598
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy	ORPHA:101150
Acute Adrenal Insufficiency	Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Sparse axillary hair, Hyperkal...	ORPHA:95409
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Hypertrophic cardiomyopathy, Respiratory failure	ORPHA:70472
Aortic Arch Interruption	Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Cyanosis, Blood press...	ORPHA:2299
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Congenital laryngeal stridor	ORPHA:2254
Hjv Or Hamp-Related Hemochromatosis	Lethargy, Dilated cardiomyopathy	ORPHA:79230
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Death in infancy, Hypertrophic cardiomyopathy	OMIM:618835
Monosomy 13Q34	Horizontal eyebrow, Hypercalcemia	ORPHA:96168
Cardiofaciocutaneous Syndrome	Redundant skin, Lymphedema, Excessive wrinkled skin, Pulmonic stenosis, Hypertrophic cardiomyopat...	ORPHA:1340
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Polyhydramnios, Edema, Recurrent upper respiratory tract infections, Recurr...	OMIM:607143
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Cardiac arrest, Edema, Jaundice, Dilated cardiomyopathy, Tachypnea, Dehydration, Apathy, P...	ORPHA:20
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Bipolar affective disorder, Abnormality of the tonsils, Polyhydramni...	ORPHA:567
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Edema, Lymphedema, Skin ulcer, Scaling skin, Chylothorax, Pleural effusion, Dry skin	ORPHA:2526
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Polyhydramnios, Intermittent e...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Polyhydramnios, Intermittent e...	ORPHA:98914
Spondylodysplastic Ehlers-Danlos Syndrome	Prominent scalp veins, Lymphedema, Respiratory insufficiency, Cutis laxa, Restrictive ventilatory...	ORPHA:536471
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Dihydropyrimidinase Deficiency	Lethargy	OMIM:222748
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Cyanosis, Left-to-right shunt, Congestive heart failure, Left v...	ORPHA:99050
Necrotizing Enterocolitis	Shock, Apnea, Edema, Bradycardia, Hypotension, Lethargy, Ascites	ORPHA:391673
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Isolated Atp Synthase Deficiency	Respiratory distress, Dilated cardiomyopathy, Arrhythmia, Lethargy, Hypertrophic cardiomyopathy	ORPHA:254913
Congenital Fibrinogen Deficiency	Tachycardia, Cyanosis, Splenic rupture, Bruising susceptibility, Internal hemorrhage, Subcutaneou...	ORPHA:335
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Cyanosis, Atrial fibrillation, Congestive heart failur...	ORPHA:31826
Noonan Syndrome	Lymphedema, Abnormality of the spleen, Pulmonary artery stenosis, Abnormality of the lymphatic sy...	ORPHA:648
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perianal erythema, Splenomegaly, Perioral erythema, Lethargy, Dry skin	OMIM:201100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure, Depression	OMIM:613954
Klippel-Trenaunay-Weber Syndrome	Lymphangioma, Lymphedema	OMIM:149000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Neonatal respiratory distress, Apnea, Dilated cardiomyopathy, Respiratory insuf...	OMIM:608836
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure	ORPHA:352447
Poems Syndrome	Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Lymphadenopathy, A...	ORPHA:2905
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Hyperlysinuria With Hyperammonemia	Lethargy	OMIM:238750
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Primary Triglyceride Deposit Cardiomyovasculopathy	Increased muscle lipid content, Abnormality of the calf musculature, Abnormal cardiomyocyte morph...	ORPHA:565612
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Lethargy	OMIM:251000
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Portal hypertension	OMIM:210050
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia, Thick hair, Highly arched eyebrow	ORPHA:401923
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Respiratory failu...	ORPHA:679
Hereditary Methemoglobinemia	Cyanosis, Exertional dyspnea	ORPHA:621
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio...	ORPHA:340
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Increased C-peptide level, Low anterior hairline, Low posterior hairline, H...	ORPHA:528
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Hypokalemia, Nail dystrophy, Hypocalcemia, Hypomagnesemia	OMIM:175500
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Cirrhosis, Familial	Jaundice, Hypertension, Pulmonary arterial hypertension, Ascites, Lethargy	OMIM:215600
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Hypoventilation, Respiratory insufficiency due to muscle weakness, Congestive heart...	OMIM:310200
Pyruvate Dehydrogenase E3 Deficiency	Cardiomyopathy, Abnormal cardiac ventricular function, Lethargy	ORPHA:2394
Symptomatic Form Of Hfe-Related Hemochromatosis	Portal hypertension, Congestive heart failure, Splenomegaly, Cardiomyopathy, Joint swelling, Apat...	ORPHA:465508
Riboflavin Deficiency	Lethargy	OMIM:615026
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Lethargy	ORPHA:289916
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hypertension, Respiratory failure	ORPHA:363400
Common Variable Immunodeficiency	Recurrent respiratory infections, Pneumonia, Splenomegaly, Vasculitis, Bronchiectasis, Lymphadeno...	ORPHA:1572
Nocardiosis	Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Em...	ORPHA:31204
Congenital Muscular Dystrophy, Ullrich Type	Respiratory failure	ORPHA:75840
Infantile Liver Failure Syndrome 2	Cardiomyopathy, Jaundice, Lethargy	OMIM:616483
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Lethargy, Cerebral ischemia	ORPHA:927
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Synophrys, Hypercalcemia	ORPHA:476126
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, Dilated cardiomyopathy	OMIM:618120
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia, Heart murmur	ORPHA:1867
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Cutis marmorata, Lymphedema, Telangiectasia, Intracranial hemorrhage, Subcutaneo...	ORPHA:109
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Apnea, Dyspnea, Lethargy, Hyperventilation	OMIM:229700
Spinocerebellar Ataxia Type 1	Inertia, Respiratory failure, Bradykinesia	ORPHA:98755
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula...	OMIM:614294
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency	OMIM:610773
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Arrhythmia, Exertional dyspnea	ORPHA:42
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral ...	OMIM:607823
Grange Syndrome	Coronary artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Carotid artery stenosis	OMIM:602531
Idiopathic Intracranial Hypertension	Lethargy, Depression	ORPHA:238624
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Redundant skin, Congestive heart failure, Respiratory failur...	OMIM:616482
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Respiratory insufficiency, Cardiomyopathy, Mit...	ORPHA:746
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Polyhydramnios, Congestive heart failure, Jaundice, Intra...	OMIM:617156
Amyotrophic Lateral Sclerosis	Dyspnea, Xerostomia, Abnormal respiratory system physiology, Depression, Respiratory failure	ORPHA:803
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Subdural hemorrh...	OMIM:618291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Restrictive ventilatory defect, Respiratory failure	OMIM:606612
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure	OMIM:614862
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Myocardial infarct...	ORPHA:3342
Galactokinase Deficiency	Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia	ORPHA:79237
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Vasculitis, Erythema, Lymphadenopathy, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Cyanosis, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, P...	ORPHA:2326
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Apnea, Splenomegaly, Concentric hypertrophic cardiomyopathy, Respirat...	OMIM:252010
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Fanconi Renotubular Syndrome 5	Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma	OMIM:618913
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Pulmonary arterial hypertension, Tachypnea, Lethargy	OMIM:614857
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia	OMIM:620249
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy, Erythema, Death in childhood, Lethargy, Cerebral edema	OMIM:618321
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Cyanosis, Anomalous origin of one pulmonary artery from ascend...	ORPHA:3384
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Pheochromocytoma	Hypercalcemia	OMIM:171300
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Clapo Syndrome	Lymphangioma, Lymphedema	ORPHA:168984
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Hereditary Central Diabetes Insipidus	Lethargy	ORPHA:30925
Kanzaki Disease	Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Angiokeratoma corporis diffusu...	OMIM:609242
Mitochondrial Trifunctional Protein Deficiency 2	Neonatal death, Death in infancy, Dilated cardiomyopathy, Left ventricular dilatation	OMIM:620300
Netherton Syndrome	Recurrent respiratory infections, Asthma, Dehydration, Urticaria, Emphysema, Dry skin	ORPHA:634
Niemann-Pick Disease Type C	Bipolar affective disorder, Fetal ascites, Splenomegaly, Abnormal lung morphology, Jaundice, Hydr...	ORPHA:646
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Polyhydramnios, Bronchitis, Epi...	ORPHA:1199
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, Hy...	OMIM:601678
Takenouchi-Kosaki Syndrome	Pulmonic stenosis, Lymphedema	OMIM:616737
Dahlberg-Borer-Newcomer Syndrome	Lymphedema	ORPHA:1563
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
Carnitine Palmitoyl Transferase 1A Deficiency	Lethargy, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death	ORPHA:156
Lethal Acantholytic Erosive Disorder	Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Respiratory failure, Intrau...	ORPHA:158687
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Chand Syndrome	Atelectasis, Dry skin	ORPHA:1401
Mandibuloacral Dysplasia	Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Sparse hair, Hyperch...	ORPHA:2457
Cerebrofacioarticular Syndrome	Tracheomalacia, Pulmonic stenosis, Lymphedema	ORPHA:314679
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Phelan-Mcdermid Syndrome	Palpebral edema, Lymphedema	OMIM:606232
Alg1-Cdg	Respiratory failure	ORPHA:79327
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
Renal Hypoplasia, Bilateral	Neonatal respiratory distress, Edema, Hypertension, Lethargy, Oligohydramnios	ORPHA:97362
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Dravet Syndrome	Bradykinesia, Cyanotic episode, Pallor	ORPHA:33069
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Acquired Purpura Fulminans	Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Macular purpura, Acrocyanosis, Internal hem...	ORPHA:49566
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Redundant skin, Supravalvular aortic stenosis, Cutis laxa, Emph...	OMIM:219100
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Abnormality of the lymphatic system, Total anomalous pulmonary venous return, Lymphedema	ORPHA:487796
Addison Disease	Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Sparse axillary hair, Hyperkal...	ORPHA:85138
Citrullinemia Type I	Lethargy, Tachypnea	ORPHA:247525
Geleophysic Dysplasia 3	Pneumonia, Polyhydramnios, Dyspnea, Mitral regurgitation, Respiratory failure	OMIM:617809
Restrictive Dermopathy 2	Respiratory distress, Intrauterine growth retardation, Cyanosis	OMIM:619793
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy	OMIM:236270
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re...	ORPHA:209905
Colchicine Poisoning	Hyponatremia, Alopecia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalc...	ORPHA:31824
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis, Partial anomalous pulmonary venous return, Systolic heart murmur, Gen...	OMIM:617478
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Hypercalcemia, Hypophosphatemia	ORPHA:249
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Hypotonia-Cystinuria Syndrome	Long eyelashes, Hypocalcemia	OMIM:606407
Bloom Syndrome	Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Recurrent tons...	ORPHA:125
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy	OMIM:233910
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Death in infancy, Atelectasis, Dehydration, Depression, Skin ul...	ORPHA:534
3-Methylglutaconic Aciduria Type 7	Cardiomyopathy, Respiratory failure, Pneumothorax	ORPHA:445038
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypercalcemia	OMIM:131100
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Hereditary Motor And Sensory Neuropathy, Type Iic	Stridor, Respiratory failure, Intercostal muscle weakness	OMIM:606071
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Proteus Syndrome	Thymus hyperplasia, Sudden cardiac death, Pulmonary embolism, Lymphedema, Lymphangioma, Abnormal ...	ORPHA:744
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy	OMIM:250620
Microphthalmia, Syndromic 9	Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoplastic...	OMIM:601186
Holocarboxylase Synthetase Deficiency	Respiratory distress, Lethargy, Tachypnea	ORPHA:79242
Tangier Disease	Accelerated atherosclerosis, Carotid artery stenosis, Facial diplegia, Left ventricular hypertrop...	ORPHA:31150
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy, Dry skin, Depression, Prolonged neonatal jaundice	ORPHA:99832
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Bipolar affective disorder, Edema, Dilated cardiomyopathy, Respiratory insuf...	ORPHA:254892
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Death in infancy, Tricuspid regurgitation, Palpebral edema, Splenomegaly, J...	OMIM:614866
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Nail dystrophy	OMIM:610644
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Developmental And Epileptic Encephalopathy 41	Lethargy	OMIM:617105
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Sandestig-Stefanova Syndrome	Intrauterine growth retardation, Respiratory failure	OMIM:618804
Phakomatosis Pigmentokeratotica	Raynaud phenomenon, Arrhythmia, Lymphedema	ORPHA:2874
Smith-Magenis Syndrome	Hypercholesterolemia, Synophrys, Hypertriglyceridemia	ORPHA:819
Criss-Cross Heart	Cyanosis, Tricuspid stenosis, Respiratory insufficiency, Pulmonic stenosis, Mitral stenosis, Supr...	ORPHA:1461
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Lethargy, Tachycardia, Pallor	ORPHA:263455
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Pericardial effusion, Dyspnea, Mediastinal lymphadenopathy, Emphysem...	OMIM:181000
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Rajab Interstitial Lung Disease With Brain Calcifications 1	Portal hypertension, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insuffici...	OMIM:613658
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Intrauterine growth retardation, Cyanotic episode	ORPHA:284417
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac...	OMIM:610655
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Isolated Thyroid-Stimulating Hormone Deficiency	Facial edema, Depression, Bradycardia, Prolonged neonatal jaundice, Lethargy, Dry skin	ORPHA:90674
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Methylcobalamin Deficiency Type Cble	Intrauterine growth retardation, Hypertension, Lethargy	ORPHA:2169
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pneumonia, Respiratory tract infection, Skin ulcer, Lethargy, Arrhythmia, Cerebral edema	ORPHA:68
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy	OMIM:238970
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hypoventilation, Spontaneous pneumothorax, Portal hypertension, Hype...	ORPHA:731
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Cerebral edema	OMIM:237300
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Dyspnea, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Respir...	OMIM:610505
Noonan Syndrome 1	Lymphedema, Dry skin, Chylothorax, Pulmonic stenosis, Hypertrophic cardiomyopathy, Bruising susce...	OMIM:163950
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy, Cerebral edema	OMIM:201450
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Lip telangiectasia, An...	ORPHA:79280
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Lymphedema	ORPHA:2822
Aicardi-Goutieres Syndrome 1	Splenomegaly, Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Pe...	OMIM:225750
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho...	OMIM:210250
Medulloblastoma	Neoplasm of the lung, Lethargy, Cerebellar hemorrhage	ORPHA:616
Ectodermal Dysplasia And Immunodeficiency 1	Ectodermal dysplasia, Lymphedema	OMIM:300291
Maple Syrup Urine Disease	Lethargy, Cerebral edema	OMIM:248600
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Dyspnea, Melena, Cough, Lethargy	ORPHA:319218
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure	OMIM:616505
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Eosinophilic Fasciitis	Muscular edema, Acrocyanosis, Edema	ORPHA:3165
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:600376
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Emphysema, Pulmonary fibrosis, Portal hypertension	OMIM:620365
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ...	ORPHA:79282
Multiple Acyl-Coa Dehydrogenase Deficiency	Congestive heart failure, Dyspnea, Cardiorespiratory arrest, Cardiomyopathy, Restrictive ventilat...	ORPHA:26791
Carnitine Palmitoyltransferase I Deficiency	Lethargy, Arrhythmia	OMIM:255120
Listeriosis	Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Congestive heart failure, Jaundice, M...	ORPHA:533
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Polyhydramnios, Death in childhood	OMIM:619847
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Insulinoma	Lethargy, Palpitations	ORPHA:97279
Genetic Transient Congenital Hypothyroidism	Lethargy, Edema, Prolonged neonatal jaundice	ORPHA:226316
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Bradypnea, Respiratory failure, Death in childhood	OMIM:617186
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Bradycardia, Edema, Prolonged neonatal jaundice	ORPHA:90673
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Biotinidase Deficiency	Splenomegaly, Lethargy, Tachypnea, Apnea	OMIM:253260
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cyanosis	ORPHA:391428
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
X-Linked Agammaglobulinemia	Alopecia, Hypocalcemia	ORPHA:47
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Nonproductive cough, Jaundice, Hypovolemia, Dehydration, Capill...	ORPHA:99826
Digeorge Syndrome	Bipolar affective disorder, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstructi...	OMIM:188400
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,...	ORPHA:3427
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Polysplenia, Pulm...	OMIM:616749
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia, Pol...	ORPHA:496641
Aromatic L-Amino Acid Decarboxylase Deficiency	Cardiorespiratory arrest, Lethargy, Apnea, Hypotension	OMIM:608643
Poliomyelitis	Respiratory failure requiring assisted ventilation, Hypertension, Hypovolemic shock, Respiratory ...	ORPHA:2912
Somatostatinoma	Increased circulating cortisol level, Hypercalcemia, Steatorrhea	ORPHA:97283
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Neuhauser Syndrome	Hypercholesterolemia, Low anterior hairline	OMIM:249310
Vipoma	Hypokalemia, Increased circulating cortisol level, Hypercalcemia	ORPHA:97282
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Joubert Syndrome 21	Apnea, Dyspnea, Splenomegaly, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis	OMIM:615636
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Depression, Hypertension, Respiratory failure,...	ORPHA:805
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Polyhydramnios, Hypercapnia, Respiratory insufficiency due to m...	ORPHA:2020
Ppoma	Increased circulating cortisol level, Hypercalcemia	ORPHA:97278
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Lethargy, Apnea	OMIM:210200
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Lethargy, Dehydration	OMIM:251110
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Recurrent respiratory infections, Tachycardia, Cyanosis, Tricuspid regurgit...	ORPHA:99125
Sim1-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Xerostomia, Lethargy	ORPHA:398079
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Atrioventricular block, Bradycardia	OMIM:614407
Timothy Syndrome	Hypocalcemia	OMIM:601005
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Respiratory failure	OMIM:620327
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Predominantly lower limb lymphedema, Depression	OMIM:604121
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Crackles, Tachypnea, Dry skin, ST segment depression, Hypotension, Hypocap...	ORPHA:466650
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Redundant skin, Subretinal pigment epithelium hemorrhage, Abnormal subcutane...	ORPHA:357074
Trichinellosis	Edema, Facial edema, Periorbital edema, Retinal hemorrhage, Apathy, Lethargy	ORPHA:863
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Hypertension, Decre...	OMIM:223900
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Pearson Marrow-Pancreas Syndrome	Erythema, Hydrops fetalis, Dehydration, Pallor, Death in childhood, Lethargy	OMIM:557000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Dilated cardiomyopathy, Intrauterine growth retardation, Hypertrophic card...	ORPHA:71212
Glucagonoma	Increased circulating cortisol level, Hypercalcemia, Steatorrhea	ORPHA:97280
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor	OMIM:207950
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Respiratory failure, Hydrops fetalis	ORPHA:88618
Heart Block, Congenital	Cardiomyopathy, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular node	OMIM:234700
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Edema, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Dehydratio...	ORPHA:79404
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Lymphedema	OMIM:613089
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Hypercalcemia	ORPHA:913
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest	OMIM:617248
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Sparse hair, H...	ORPHA:363618
Isolated Complex I Deficiency	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Respiratory insufficiency, Lethargy	ORPHA:2609
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Grfoma	Increased circulating cortisol level, Hypercalcemia	ORPHA:97261
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Cyanosis, Tricuspid stenosis, Edema, Valvular pulmonary stenosis, Hydrop...	OMIM:212093
Glutaric Acidemia Type 3	Lethargy	ORPHA:35706
Osteopetrosis, Autosomal Recessive 5	Splenomegaly, Hepatosplenomegaly, Respiratory failure, Stillbirth, Ascites	OMIM:259720
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Sparse scalp hair, Alopecia, Hyperlipidemia, Hypercholesterolemia	OMIM:248370
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Costello Syndrome	Redundant neck skin, Polyhydramnios, Pneumothorax, Respiratory insufficiency, Respiratory failure...	OMIM:218040
Holocarboxylase Synthetase Deficiency	Lethargy, Tachypnea, Hyperventilation	OMIM:253270
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Intrauterine growth retardation, Respiratory failure, Redundant neck skin, Polyhydramnios	ORPHA:254528
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Lethargy, Dehydration	OMIM:251100
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	OMIM:600001
Encephalitis Lethargica	Lethargy, Bradycardia, Hyperventilation	ORPHA:83600
Familial Dysautonomia	Recurrent respiratory infections, Orthostatic hypotension, Tachycardia, Abnormal pleura morpholog...	ORPHA:1764
Oculoectodermal Syndrome	Hypertrophic cardiomyopathy, Transient ischemic attack, Lymphedema	OMIM:600268
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Bilateral trilobed lung, Cyanosis, Polyhydramnios, Asplenia, Total anomalou...	OMIM:306955
Autosomal Recessive Cutis Laxa Type 1	Abnormal cardiac ventricular function, Redundant skin, Congestive heart failure, Pneumothorax, Re...	ORPHA:90349
Magel2-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Xerostomia, Lethargy	ORPHA:398069
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Hypercalcemia	ORPHA:276152
Autosomal Dominant Hypocalcemia	Alopecia, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage, Intrauterine growth retardation, Lethargy	ORPHA:79284
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy	ORPHA:2089
Myasthenia Gravis	Raynaud phenomenon, Dyspnea, Acrocyanosis, Abnormal thymus morphology	ORPHA:589
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:264580
Familial Hypoaldosteronism	Lethargy, Orthostatic hypotension, Hypovolemia, Hypotension	ORPHA:427
Tarp Syndrome	Intrauterine growth retardation, Cyanosis, Apnea, Pulmonary hypoplasia	ORPHA:2886
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Hirsutism	OMIM:151660
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis, Pulmonic stenosis	ORPHA:3304
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy, Jaundice, Tachypnea	OMIM:615751
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Apnea	OMIM:617301
Infantile Krabbe Disease	Abnormal heart rate variability, Respiratory failure, Respiratory distress	ORPHA:206436
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Myocardial infarction, Lymphedema, Depression, Hypertension, Intrauterine ...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Myocardial infarction, Lymphedema, Depression, Hypertension, Intrauterine ...	ORPHA:99228
Monosomy X	Prolonged QT interval, Myocardial infarction, Lymphedema, Depression, Hypertension, Intrauterine ...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Myocardial infarction, Lymphedema, Depression, Hypertension, Intrauterine ...	ORPHA:881
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Alobar Holoprosencephaly	Central apnea, Depression, Abnormal heart rate variability, Apathy, Aspiration pneumonia, Letharg...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Depression, Abnormal heart rate variability, Apathy, Aspiration pneumonia, Letharg...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Depression, Abnormal heart rate variability, Apathy, Aspiration pneumonia, Letharg...	ORPHA:93924
Semilobar Holoprosencephaly	Central apnea, Depression, Abnormal heart rate variability, Apathy, Aspiration pneumonia, Letharg...	ORPHA:220386
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea	OMIM:619580
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia	ORPHA:69663
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation	ORPHA:268943
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Tendon xanthomatosis, Peripheral arterial stenosis, Calcification of ...	ORPHA:391665
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Predominantly lower limb lymphedema, Depression	ORPHA:314404
Spondyloocular Syndrome	Lymphedema	OMIM:605822
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Long eyelashes, Hypocalcemia	OMIM:618476
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Respiratory failure	ORPHA:3240
Leigh Syndrome	Congestive heart failure, Respiratory failure, Intrauterine growth retardation, Hypertrophic card...	ORPHA:506
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
Celiac Disease, Susceptibility To, 1	Alopecia, Hypocalcemia, Steatorrhea	OMIM:212750
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Lethargy	OMIM:607483
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Multiple Endocrine Neoplasia Type 1	Primary hypercortisolism, Increased circulating cortisol level, Hypercalcemia	ORPHA:652
Posterior Urethral Valve	Hypertension, Lethargy, Oligohydramnios	ORPHA:93110
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia	ORPHA:275761
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Biotinidase Deficiency	Respiratory distress, Lethargy, Apnea, Hyperventilation	ORPHA:79241
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Redundant neck skin, Miscarriage, Polyhydramnios, Pulmonary artery stenosis, Cutis laxa, Hepatosp...	ORPHA:96334
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Nail dystrophy, Hypoma...	ORPHA:37042
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Recurrent pneumonia, Respir...	ORPHA:647
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia, Hypertrichosis	ORPHA:1655
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respiratory tract inf...	ORPHA:293987
Meier-Gorlin Syndrome 4	Intrauterine growth retardation, Emphysema	OMIM:613804
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lethargy, Apnea	ORPHA:395
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Schneckenbecken Dysplasia	Polyhydramnios, Lymphedema	ORPHA:3144
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia	OMIM:617913
Tropical Endomyocardial Fibrosis	Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Myocardial calcification...	ORPHA:75565
Hypothyroidism, Congenital, Nongoitrous, 2	Stridor, Lethargy, Dry skin, Bradycardia	OMIM:218700
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Prominent superficial blood vessels, Cyanosis, Mitral stenosis, Angina pect...	ORPHA:740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Redundant neck skin, Prematurely aged appearance, Redundant skin, Congestiv...	ORPHA:90348
Postinfectious Vasculitis	Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Raynaud phenomenon, Cardiomyop...	ORPHA:48435
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Lethargy	OMIM:277380
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Immunodeficiency 47	Hypercholesterolemia, Decreased circulating copper concentration	OMIM:300972
Neonatal Marfan Syndrome	Neonatal respiratory distress, Tricuspid regurgitation, Heart murmur, Cutis laxa, Hypoxemia, Mitr...	ORPHA:284979
Williams Syndrome	Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con...	ORPHA:904
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Lethargy	OMIM:277410
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Lethargy	OMIM:201470
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Citrullinemia, Classic	Lethargy, Cerebral edema	OMIM:215700
Glycine Encephalopathy	Lethargy, Respiratory acidosis, Breathing dysregulation	ORPHA:407
Cutis Laxa, Autosomal Recessive, Type Ib	Dermal translucency, Emphysema, Cutis laxa, Bradycardia, Pulmonary artery aneurysm, Pulmonary art...	OMIM:614437
Monosomy 22Q13.3	Palpebral edema, Lymphedema	ORPHA:48652
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Atrial fibrillation, Prolonged QRS complex, L...	ORPHA:273
Fraser Syndrome 2	Respiratory failure, Hypoplasia of the thymus, Oligohydramnios	OMIM:617666
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Dermal translucency, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothor...	OMIM:130050
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Lethargy, Cerebral edema	OMIM:311250
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Coronary artery stenosis, Coronary artery atherosclerosis	ORPHA:66529
Sarcoidosis	Alopecia, Hypercalcemia	ORPHA:797
Hereditary Fructose Intolerance	Lethargy, Jaundice	ORPHA:469
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia	ORPHA:79259
Bardet-Biedl Syndrome 20	Hypercholesterolemia	OMIM:619471
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Facial edema, Lethargy, Bradycardia, Prolonged neonatal jaundice	ORPHA:226307
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy	OMIM:210210
Argininosuccinic Aciduria	Lethargy, Cerebral edema	OMIM:207900
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Hyperoxaluria, Primary, Type I	Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Dehydration, Int...	OMIM:259900
Transcobalamin Ii Deficiency	Lethargy	OMIM:275350
Pmm2-Cdg	Respiratory distress, Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Abnormal s...	ORPHA:79318
Williams-Beuren Syndrome	Medial flaring of the eyebrow, Premature graying of hair, Hypercalcemia	OMIM:194050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Respiratory failure, Hydrops fetalis, Polyhydramnios	OMIM:300868
Hydranencephaly	Intrauterine growth retardation, Lethargy, Antenatal intracerebral hemorrhage	ORPHA:2177
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Tricuspid regurgitation, Dyspnea, Erythema, Dilated cardiomyopathy, Mitral ...	ORPHA:2556
Ulbright-Hodes Syndrome	Respiratory distress, Pneumothorax, Respiratory failure, Severe intrauterine growth retardation, ...	ORPHA:3404
Myhre Syndrome	Pericardial effusion, Respiratory insufficiency, Hypertension, Respiratory failure, Intrauterine ...	OMIM:139210
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation	ORPHA:2554
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Lethargy	OMIM:277400
Keutel Syndrome	Sinusitis, Miscarriage, Recurrent bronchitis, Hypertension, Pulmonary artery hypoplasia, Pulmonic...	OMIM:245150
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Cartilage-Hair Hypoplasia	Sparse hair, Hypocalcemia, Sparse eyebrow	ORPHA:175
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy, Tachypnea	ORPHA:415
Diamond-Blackfan Anemia	Lethargy, Pallor, Nonimmune hydrops fetalis	ORPHA:124
Pearson Syndrome	Hypomagnesemia, Steatorrhea, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia	ORPHA:699
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Transient ischemic attack, Respiratory failure, Ischemic stroke, Intrau...	ORPHA:500150
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Dyspnea, Jaundice, Hypertension, Budd-Chiari syndrome,...	ORPHA:447
Generalized Arterial Calcification Of Infancy	Respiratory distress, Cyanosis, Transient ischemic attack, Edema, Polyhydramnios, Pericardial eff...	ORPHA:51608
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Abetalipoproteinemia	Congestive heart failure, Respiratory failure	ORPHA:14
Cranioectodermal Dysplasia 1	Slow-growing hair, Short nail, Fine hair, Hypocalcemia, Sparse hair	OMIM:218330
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Gitelman Syndrome	Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Primary hyperaldosteronism	ORPHA:358
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Sotos Syndrome	Sparse anterior scalp hair, Hypercalcemia	ORPHA:821
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Lethargy, Jaundice	OMIM:229600
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Aicardi-Goutières Syndrome	Cutis marmorata, Raynaud phenomenon, Dry skin, Hepatosplenomegaly, Prolonged neonatal jaundice, H...	ORPHA:51
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Striae distensae, Prematurely aged appearance, Poor wound healing, Arter...	ORPHA:287
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Abnormality of hair texture, Hypophosphatemia	ORPHA:667
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia	OMIM:118450
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Lipodystrophy, Familial Partial, Type 7	Sparse hair, Hypercholesterolemia, Hypertriglyceridemia, Sparse scalp hair	OMIM:606721
Primary Hyperoxaluria	Cutis marmorata, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermitten...	ORPHA:416
Kufor-Rakeb Syndrome	Bradykinesia, Lethargy, Apathy	ORPHA:306674
Pitt-Hopkins Syndrome	Acrocyanosis, Abnormal pattern of respiration, Hyperventilation	ORPHA:2896
Liver Disease, Severe Congenital	Hyponatremia, Dry hair, Elevated circulating alpha-fetoprotein concentration, Increased circulati...	OMIM:619991
Osteopetrosis With Renal Tubular Acidosis	Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:2785
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Dyspnea, Respiratory failure, Intrauterine growth retardation	ORPHA:2636
Glycerol Kinase Deficiency	Lethargy	OMIM:307030
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Synophrys, Long eyel...	OMIM:619503
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Otopalatodigital Syndrome, Type Ii	Respiratory failure, Stillbirth, Respiratory insufficiency	OMIM:304120
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Pineoblastoma	Lethargy	ORPHA:251909
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Coffin-Lowry Syndrome	Mitral regurgitation, Acrocyanosis, Cutis marmorata, Cutis laxa	OMIM:303600
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia	OMIM:620330
Hypermobile Ehlers-Danlos Syndrome	Arrhythmia, Acrocyanosis, Apnea, Depression	ORPHA:285
Johanson-Blizzard Syndrome	Sparse scalp hair, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Front...	OMIM:243800
Charge Syndrome	Hypocalcemia	OMIM:214800
1P36 Deletion Syndrome	Aortic arch aneurysm, Abnormal heart valve morphology, Camptodactyly of finger, Patent ductus art...	ORPHA:1606

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pdpn

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pdpn.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Podoplanin-Expressing Macrophages Promote Lymphangiogenesis and Lymphoinvasion in Breast Cancer.	Cell metabolism (August 2019)	Pdpn^{tm1c(EUCOMM)Wtsi}	31447322
Conditional deletion of E11/podoplanin in bone protects against load-induced osteoarthritis.	BMC musculoskeletal disorders (July 2019)	Pdpn^{tm1a(EUCOMM)Wtsi}	PMC6661085
Platelets play an essential role in murine lung development through Clec-2/podoplanin interaction.	Blood (May 2018)	Pdpn^{tm1c(EUCOMM)Wtsi}	29853539
Hypomorphic conditional deletion of E11/Podoplanin reveals a role in osteocyte dendrite elongation.	Journal of cellular physiology (June 2017)	Pdpn^{tm1c(EUCOMM)Wtsi}	PMC5575468
Morphological study of tooth development in podoplanin-deficient mice.	PloS one (February 2017)	Pdpn^{tm1a(EUCOMM)Wtsi}	PMC5319687

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Pdpn^{tm1c(EUCOMM)Wtsi}	Wild type floxed exon (post-Flp)	Mice
Pdpn^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Pdpn^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Pdpn^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pdpn MGI:103098

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Adult LacZ

Echo

X-ray

MicroCT E18.5

Embryo LacZ

Auditory Brain Stem Response

Human diseases caused by Pdpn mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data