Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Lpcat1 MGI:2384812

Gene Summary

Name:

lysophosphatidylcholine acyltransferase 1

Synonyms:

Aytl2, rd11, 2900035H07Rik, LPCAT

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
abnormal retina vasculature morphology	Lpcat1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.83×10^-08
mydriasis	Lpcat1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.03×10^-14
impaired pupillary reflex	Lpcat1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.21×10^-14
hyperactivity	Lpcat1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.57×10^-05
abnormal retina morphology	Lpcat1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.15×10^-16

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

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

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

No Embryo expression data was found for this gene.

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
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%

No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

16 Images

View images

Human diseases caused by Lpcat1 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 Lpcat1 (0 diseases)
Human diseases predicted to be associated with Lpcat1 (951 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lpcat1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Visual impairment, Color vision...	OMIM:603649
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ...	OMIM:608051
Macular Degeneration, Age-Related, 13	Choroidal neovascularization, Macular scar, Drusen, Macular degeneration, Progressive visual loss	OMIM:615439
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy, Visual impairment	OMIM:613827
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy, Visual impairment	OMIM:126600
Macular Dystrophy, Retinal, 1, North Carolina Type	Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula...	OMIM:136550
Stargardt Disease 3	Macular flecks, Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment	OMIM:600110
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,...	OMIM:605670
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color...	OMIM:608850
Sorsby Pseudoinflammatory Fundus Dystrophy	Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar...	ORPHA:59181
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve...	ORPHA:70589
Macular Dystrophy, Patterned, 3	Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Best Vitelliform Macular Dystrophy	Metamorphopsia, Visual field defect, Cystoid macular degeneration, Choroideremia, Visual impairme...	ORPHA:1243
Macular Dystrophy, Vitelliform, 2	Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ...	OMIM:153700
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual...	ORPHA:85128
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Leber Congenital Amaurosis 19	Optic disc pallor, Visual impairment, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen...	OMIM:177650
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization, Reduced visual acuity	OMIM:616118
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de...	OMIM:180020
Ceroid Lipofuscinosis, Neuronal, 6A	Increased neuronal autofluorescent lipopigment, Retinal degeneration, Progressive visual loss	OMIM:601780
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Stargardt Disease 4	Macular degeneration, Retinal flecks, Reduced visual acuity	OMIM:603786
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co...	OMIM:616544
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Macular Degeneration, Atrophic, X-Linked	Macular degeneration, Reduced visual acuity	OMIM:300834
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Visual field defect, Attenuation of retin...	OMIM:609923
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys...	OMIM:265120
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Pericentral scotoma, Peripheral retinal degeneration,...	OMIM:609021
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal...	ORPHA:70587
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	High hypermetropia, Retinal degeneration	OMIM:251700
Retinitis Pigmentosa 70	Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma...	OMIM:615922
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N...	OMIM:620342
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph...	OMIM:609913
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Retinitis Pigmentosa Inversa With Deafness	Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu...	OMIM:600977
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi...	OMIM:180210
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Ceroid Lipofuscinosis, Neuronal, 2	Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme...	OMIM:204500
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity, Chorioretinal degeneration	OMIM:616311
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H...	OMIM:617879
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia...	ORPHA:70588
Bietti Crystalline Dystrophy	Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec...	ORPHA:41751
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm...	OMIM:608194
Macular Dystrophy, Vitelliform, 3	Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho...	OMIM:608161
Achromatopsia	Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m...	ORPHA:49382
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Wagner Vitreoretinopathy	Myopia, Retinal pigment epithelial atrophy, Visual loss, Optically empty vitreous, Optic atrophy,...	OMIM:143200
Retinitis Pigmentosa 68	Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu...	OMIM:615725
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral...	OMIM:600138
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Pulmonary Blastoma	Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Pulmonary infiltrates, Cough	ORPHA:64741
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Slow decrease in visual acuity,...	OMIM:610381
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:610359
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle...	ORPHA:79126
Cone-Rod Dystrophy, X-Linked, 1	Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu...	OMIM:304020
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Pulmonary Nodular Lymphoid Hyperplasia	Dyspnea, Ground-glass opacification, Nodular pattern on pulmonary HRCT, Cough	ORPHA:60026
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a...	OMIM:613731
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field...	OMIM:618144
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f...	OMIM:619773
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Ceroid Lipofuscinosis, Neuronal, 3	Blindness, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescen...	OMIM:204200
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc...	ORPHA:91359
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:617871
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri...	OMIM:619007
Cone-Rod Dystrophy 15	Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho...	OMIM:613660
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu...	OMIM:267760
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Bestrophinopathy, Autosomal Recessive	Hypermetropia, Retinal pigment epithelial atrophy, Reduced visual acuity, Retinal flecks	OMIM:611809
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ...	OMIM:613750
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:601718
Retinitis Pigmentosa 38	Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a...	OMIM:613862
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,...	ORPHA:2902
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Achromatopsia 7	Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a...	OMIM:616517
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ...	OMIM:602093
Optic Atrophy 5	Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte...	OMIM:610708
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Retinal Dystrophy And Obesity	Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual...	OMIM:616188
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Warfarin-induced skin necrosis, Pulmonary embolism	OMIM:176860
Ophthalmoplegia, External, And Myopia	Myopia, Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt...	OMIM:600059
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Optic atrophy, Retinal degeneration	OMIM:614322
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Central Retinal Vein Occlusion	Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he...	ORPHA:411527
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp...	OMIM:610910
Ceroid Lipofuscinosis, Neuronal, 1	Blindness, Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macul...	OMIM:256730
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:611040
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opaci...	ORPHA:330012
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a...	OMIM:615147
Bothnia Retinal Dystrophy	Macular degeneration, Nyctalopia, Retinal dystrophy	OMIM:607475
Morm Syndrome	Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Visual impairment	ORPHA:75858
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu...	OMIM:617781
Oguchi Disease	Myopia, Mizuo phenomenon, Diplopia, Visual field defect, Macular degeneration, Congenital station...	ORPHA:75382
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia, Vis...	ORPHA:1852
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl...	OMIM:234810
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma...	OMIM:618826
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti...	OMIM:618195
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non...	ORPHA:1302
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro...	OMIM:619611
Progressive Bifocal Chorioretinal Atrophy	Myopia, Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy, Visual impairment	ORPHA:75373
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Schizophrenia 15	Hyperactivity	OMIM:613950
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct...	ORPHA:79127
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive...	OMIM:264420
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car...	ORPHA:50251
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Centril...	OMIM:265450
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia	OMIM:616502
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capi...	ORPHA:199241
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Reduced visual acuity, Retinal degeneration	OMIM:615993
Birdshot Chorioretinopathy	Arcuate scotoma, Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroi...	ORPHA:179
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:617460
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Myopia, Neonatal hyperbilirubinemia, Retinal degeneration	ORPHA:3363
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Nephronophthisis 15	Blindness, Retinal degeneration	OMIM:614845
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi...	ORPHA:264675
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy...	OMIM:180104
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Tricuspid regurgitation, Cyanosis, Congestive heart failure, Chronic pulmon...	ORPHA:2414
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Mildly reduced visual acuity, Vitreous floaters, Lattice retinal degeneration...	OMIM:614292
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Progressive visual loss, Cere...	OMIM:256731
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv...	OMIM:193235
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field...	OMIM:617304
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Bardet-Biedl Syndrome 4	Nyctalopia, Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin...	OMIM:617406
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua...	OMIM:604393
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac...	OMIM:618220
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, N...	OMIM:616108
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi...	OMIM:614370
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho...	OMIM:613464
Optic Atrophy 1	Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Abnormal amplit...	OMIM:165500
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Idiopathic Pulmonary Fibrosis	Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,...	ORPHA:2032
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy, Apnea	OMIM:610992
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Constriction of peripheral visual field, Retinal degeneration	OMIM:520000
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Myopia, Chorioretinal atrophy, Visual impairment	OMIM:600790
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho...	OMIM:610356
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Retinitis Pigmentosa 23	Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Absent ...	OMIM:300424
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Canavan Disease	Abnormality of retinal pigmentation, Blindness, Optic atrophy, Abnormality of visual evoked poten...	ORPHA:141
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis	ORPHA:91130
Optic Atrophy 8	Abnormal auditory evoked potentials, Visual loss, Central scotoma, Abnormality of pattern visual ...	OMIM:616648
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Retinal degeneration	OMIM:275400
Exudative Vitreoretinopathy 5	Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T...	OMIM:613310
Macular Degeneration, Age-Related, 3	Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization	OMIM:608895
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Hypotaurinemia, Retinal pigment ep...	OMIM:145350
Stuve-Wiedemann Syndrome 2	Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Neonatal death,...	OMIM:619751
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:613642
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Miscarriage, Pulmonary embolism	ORPHA:82
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:180105
Antithrombin Iii Deficiency	Arterial occlusion, Pulmonary embolism	OMIM:613118
Cherubism	Macular scar, Marcus Gunn pupil, Optic neuropathy	OMIM:118400
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Visual loss, Optic atrophy, Cerebral cortical a...	OMIM:300438
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment, Cataract	OMIM:147610
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy...	OMIM:310600
Adult-Onset Foveomacular Vitelliform Dystrophy	Visual field defect, Retinal nonattachment, Abnormality of vision, Vitelliform-like macular lesio...	ORPHA:99000
Mucolipidosis Iv	Cerebellar atrophy, Optic atrophy, Photophobia, Retinal degeneration, Visual impairment	OMIM:252650
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi...	ORPHA:52427
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:612095
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:613617
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:602271
Severe Early-Childhood-Onset Retinal Dystrophy	Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ...	ORPHA:364055
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:613983
Acute Lung Injury	Respiratory distress, Shock, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal...	ORPHA:178320
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Purpura, Warfarin-induced skin necrosis, Pulmonary embolism	OMIM:612336
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Miosis, Deep anterior chamber, Mosaic corneal dystrop...	OMIM:309300
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f...	OMIM:300476
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Bietti Crystalline Corneoretinal Dystrophy	Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi...	OMIM:210370
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta...	ORPHA:411703
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea...	ORPHA:2038
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ...	ORPHA:60033
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory...	OMIM:620321
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Poretti-Boltshauser Syndrome	Myopia, Retinal atrophy, Retinal thinning, Retinal dystrophy, Amblyopia	OMIM:615960
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo...	ORPHA:209943
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Leber Congenital Amaurosis 15	Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac...	OMIM:613843
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Intestinal Botulism	Dysphagia, Mydriasis	ORPHA:178481
Neovascular Glaucoma	Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v...	ORPHA:94058
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Whee...	OMIM:620233
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph...	OMIM:270200
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia, Hypoxemia, Subcutane...	ORPHA:238459
Cone-Rod Dystrophy 10	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M...	OMIM:610283
Toxin-Mediated Infectious Botulism	Dysphagia, Mydriasis	ORPHA:230800
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v...	OMIM:605549
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H...	OMIM:616414
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Cough, Abnormal pattern o...	ORPHA:77260
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy, Progressive visual loss	OMIM:164500
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pu...	ORPHA:36238
Vitreoretinochoroidopathy	Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Vitreous hemorrhage, Pig...	OMIM:193220
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Right bundle branch block, Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea	ORPHA:254361
Cone-Rod Dystrophy And Hearing Loss 1	Retinal atrophy, Photophobia, Macular degeneration, Hemeralopia, Dyschromatopsia, Visual impairment	OMIM:617236
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con...	OMIM:613194
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Heparin-Induced Thrombocytopenia	Abnormal onset of bleeding, Cerebral ischemia, Myocardial infarction, Pulmonary embolism	ORPHA:3325
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox...	ORPHA:747
Bardet-Biedl Syndrome 2	Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:613581
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Myopia, Retinal atrophy, Retinal dystrophy, Elevated circulating creatine kinase concentration, A...	ORPHA:370022
Retinitis Pigmentosa 45	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene...	OMIM:613767
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor	OMIM:614278
Succinic Acidemia	Respiratory distress	OMIM:600335
Spastic Paraplegia 11, Autosomal Recessive	Degeneration of the lateral corticospinal tracts, Macular degeneration, Retinal degeneration, Cer...	OMIM:604360
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoke...	OMIM:619260
Pulmonary Hemosiderosis	Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Pulmonary fibrosis, Respira...	OMIM:178550
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot...	ORPHA:2257
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Undete...	ORPHA:436245
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis, Neonatal death, Death in infancy	OMIM:300219
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Rod-cone dys...	OMIM:610127
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Congenital Diaphragmatic Hernia	Respiratory distress, Pulmonary hypoplasia, Hypoxemia	ORPHA:2140
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach...	ORPHA:137914
Retinitis Pigmentosa 37	Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac...	OMIM:611131
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Constriction of peripheral visual field, Optic atrophy, Abno...	ORPHA:1215
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Iatrogenic Botulism	Dysphagia, Mydriasis	ORPHA:254509
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys...	ORPHA:133
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis, Acrocyanosis	ORPHA:896
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
Wound Botulism	Dysphagia, Mydriasis	ORPHA:178475
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch...	OMIM:613490
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi...	OMIM:612387
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch...	OMIM:601777
Abetalipoproteinemia	Abetalipoproteinemia, Retinopathy, Retinal degeneration	OMIM:200100
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Myopia, Blindness, Corpus callosum atrophy, Visual loss, Abnormal amplitude o...	ORPHA:168491
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ...	OMIM:616468
Cardiomyopathy, Dilated, 2C	Death in infancy, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in ch...	OMIM:618189
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Optic atrophy	OMIM:300928
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula...	ORPHA:54
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in...	ORPHA:60025
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Macular atrophy, Optic atrophy, Cerebral atrophy, Retinopa...	OMIM:616171
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Abnormal capillary physiology, Erythema, Angioedema, Upper airway obstructi...	ORPHA:100057
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Sjögren-Larsson Syndrome	Myopia, Abnormality of retinal pigmentation, Photophobia, Macular degeneration, Retinopathy	ORPHA:816
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup...	ORPHA:99103
Acquired Methemoglobinemia	Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef...	ORPHA:45452
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Large central visual field defect, Blindness, Visual loss,...	ORPHA:79264
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Alg6-Cdg	Rod-cone dystrophy, Hypoalbuminemia, Decreased LDL cholesterol concentration, Retinal degeneration	ORPHA:79320
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms	OMIM:619470
Monosodium Glutamate Sensitivity	Dyspnea, Palpitations, Flushing	OMIM:231630
Infant Botulism	Keratoconjunctivitis sicca, Dysphagia, Anorexia, Mydriasis	ORPHA:178478
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Developmental And Epileptic Encephalopathy 28	Cerebral atrophy, Optic atrophy, Retinal degeneration	OMIM:616211
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology	ORPHA:170
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Botulism	Dysphagia, Mydriasis	ORPHA:1267
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Visual loss, Optic atrophy, Retinal degeneration	OMIM:249270
Afibrinogenemia, Congenital	Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed...	OMIM:202400
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Retinal degeneration	OMIM:616896
Aceruloplasminemia	Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration, Retinal d...	OMIM:604290
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se...	ORPHA:99106
Ataxia With Vitamin E Deficiency	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Nyctalopia, Visual ...	ORPHA:96
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, Amblyopia, Reduced visual acuity, Depigmented fundus, Photophobia, Abnor...	ORPHA:352731
Serotonin Syndrome	Tremor, Restlessness, Agitation, Mydriasis	ORPHA:43116
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Visual impairment, Reduced visual acuity, Retinal degeneration	OMIM:270700
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Congenital Heart Block	Cyanosis, First degree atrioventricular block, Crackles, Gallop rhythm, Congestive heart failure,...	ORPHA:60041
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Cyanosis, Crackles, Righ...	ORPHA:1329
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci...	OMIM:300770
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Foodborne Botulism	Dysphagia, Mydriasis	ORPHA:228371
Refsum Disease, Classic	Nyctalopia, Rod-cone dystrophy, Elevated circulating phytanic acid concentration, Retinal degener...	OMIM:266500
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Respiratory insufficiency	OMIM:601612
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Decreased nerve conduction velocity, Visual loss, Optic atrophy, Cerebral atr...	OMIM:256600
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Blindness, Visual loss, Optic atrophy, Cerebral atrophy, Hyperammonemia...	ORPHA:391428
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Larsen-Like Syndrome, Lethal Type	Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Tracheomalacia, Pulmonary insuff...	OMIM:245650
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Dec...	OMIM:616959
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Blindness, Abnormality of macular pigmentation	ORPHA:1573
Scheie Syndrome	Retinal degeneration	OMIM:607016
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr...	ORPHA:454836
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti...	OMIM:605808
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase...	ORPHA:90060
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Uveitis, Retinal ...	OMIM:221900
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Caudate atrophy, Cerebral visual impairment, Visual loss, Ce...	ORPHA:52368
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis	ORPHA:247815
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Miosis, Corneal scarring, Bupht...	OMIM:212550
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Dyspnea, Congestive heart failure, Dilated cardi...	OMIM:612877
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Central scotoma, Optic atrophy, Slo...	OMIM:601152
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Rayn...	ORPHA:79128
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615986
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Factor V Excess With Spontaneous Thrombosis	Pulmonary embolism	OMIM:134400
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Miller Fisher Syndrome	Anisocoria, Dysphagia, Mydriasis	ORPHA:98919
Inhalational Botulism	Mydriasis	ORPHA:254504
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Intellectual Developmental Disorder, X-Linked 104	Tremor, Hyperactivity, Optic atrophy, Aggressive behavior	OMIM:300983
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Visual impairm...	OMIM:615994
Alternating Hemiplegia Of Childhood	Anorexia, Oral-pharyngeal dysphagia, Tremor, Aggressive behavior, Impulsivity, Dysphagia, Choreoa...	ORPHA:2131
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Multisystemic Smooth Muscle Dysfunction Syndrome	Retinal infarction, Mydriasis	OMIM:613834
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness	OMIM:300580
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr...	OMIM:244400
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Nyctalopia, Abnormality of pattern visual evoked potentials, Visual field defect, Rod-cone dystro...	ORPHA:166035
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency	OMIM:610773
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials, ...	OMIM:617523
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur...	ORPHA:439
Hyperlysinemia, Type I	Hyperactivity, Ectopia lentis	OMIM:238700
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Reduced visual acuity	OMIM:616722
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Cerebral atrophy, Abnormality of vision, Brain atrophy, Retinal degeneration	ORPHA:442835
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Optic disc pallor, Abnormality of pattern visual evoked potentials, Cerebral ...	ORPHA:1947
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia	OMIM:301107
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Visual impairment, Elevated circulating creatine kinase concentration, Reduced visual acuity, Ret...	OMIM:615249
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas...	ORPHA:83461
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Pulmonary edema	OMIM:178400
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor...	OMIM:619927
Rhizomelic Chondrodysplasia Punctata, Type 2	Decreased circulating plasmalogen concentration, Optic nerve hypoplasia	OMIM:222765
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Peroxisomal Acyl-Coa Oxidase Deficiency	Abnormality of visual evoked potentials, Myopia, Optic atrophy	ORPHA:2971
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Visual impairment, Patchy atrophy of the retinal pigment epi...	ORPHA:1433
Microcoria, Congenital	Microcoria, Miosis, Hypoplasia of the iris dilator muscle	OMIM:156600
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Hypotension, Cough	ORPHA:99825
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy	ORPHA:404451
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Cardiomyopathy, Pulmonary hypoplasia, Neonatal death, Pulmonary ar...	OMIM:619003
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Krabbe Disease	Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Blindness, Decreased nerve con...	OMIM:245200
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Blindness, Visual loss, Optic atrophy, Undetectable visual evoked potentials, Progressive visual ...	OMIM:601338
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia...	OMIM:606763
Cardiomyopathy, Dilated, 2H	Reduced left ventricular ejection fraction, Tachypnea, Neonatal death, Cardiorespiratory arrest	OMIM:620203
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Neoplasm of the lung, Stridor, Cough	ORPHA:142
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation,...	ORPHA:980
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric...	ORPHA:444013
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebellar atrophy, Myopia, Cerebral visual impairment, Corpus callosum atrophy, Optic atrophy, C...	OMIM:616875
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Optic atrophy, Mydriasis	OMIM:259720
Mepan Syndrome	Cerebellar atrophy, Optic atrophy, Reduced visual acuity, Cerebral atrophy, Abnormality of visual...	ORPHA:508093
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Dyspnea, Vasculitis, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abn...	ORPHA:70578
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax...	ORPHA:538
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials, Brain atrophy, Cerebral atrophy	OMIM:609304
Pantothenate Kinase-Associated Neurodegeneration	Pallidal degeneration, Blindness, Abetalipoproteinemia, Bull's eye maculopathy, Nyctalopia, Optic...	ORPHA:157850
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Macular degeneration, Diplopia	ORPHA:284289
Idiopathic Pulmonary Hemosiderosis	Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o...	ORPHA:99931
Hereditary Methemoglobinemia	Cyanosis, Exertional dyspnea	ORPHA:621
Friedreich Ataxia	Optic atrophy, Reduced visual acuity, Visual field defect, Abnormality of visual evoked potential...	OMIM:229300
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Portal hypertension, Abnormal pleura morphology, Crackles, Dyspnea, Restrictive ventilatory defec...	ORPHA:210136
Breath-Holding Spells	Cyanosis	OMIM:607578
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Pyruvate Dehydrogenase E2 Deficiency	Peripheral visual field loss, Neurodegeneration, Retinal degeneration	ORPHA:79244
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nyctalopia, Retinal degeneration	OMIM:615630
Lujo Hemorrhagic Fever	Respiratory distress, Shock, Crackles, Excessive bleeding after a venipuncture, Atelectasis, Nonp...	ORPHA:319213
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Autosomal Dominant Hyper-Ige Syndrome	Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough	ORPHA:2314
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ...	ORPHA:99105
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress	OMIM:620011
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Crackles, Dyspnea, Premature graying of hair, Decreased DLCO, Pulmonary fibrosis, Cough, Reticula...	OMIM:614742
Joubert Syndrome 6	Blindness, Retinal degeneration, Chorioretinal coloboma	OMIM:610688
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera...	ORPHA:71505
Myopia 3, Autosomal Dominant	Retinal detachment, High myopia	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment, High myopia	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment, High myopia	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment, High myopia	OMIM:608474
Goodpasture Syndrome	Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Ground-glass opacification, Increased DLCO...	OMIM:233450
Tularemia	Respiratory distress, Tachycardia, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmon...	ORPHA:3392
Cardiomyopathy, Familial Hypertrophic, 16	Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund...	OMIM:613838
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Atrophy of the spinal cord, Abnormality of pattern visual evoked potenti...	ORPHA:2822
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnorm...	ORPHA:485421
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Familial Isolated Restrictive Cardiomyopathy	Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Suprav...	ORPHA:75249
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Hypertension, Pulmonary hypoplasia	OMIM:616733
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Axial Spondylometaphyseal Dysplasia	Retinal dystrophy, Peripheral retinal degeneration, Amblyopia, Optic atrophy, Reduced visual acui...	ORPHA:168549
Malaria	Respiratory distress	ORPHA:673
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced visual acuity, Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Cyanosis, Cardiac shunt, Congestive heart failure, Tachypnea, Left ventricular outfl...	ORPHA:860
Arachnoid Cyst	Disinhibition, Mydriasis	ORPHA:2356
Phenylketonuria	Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compulsive behaviors, Attention defici...	OMIM:261600
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Left-to-right shunt, Cyanosis, Congestive heart failure, Left v...	ORPHA:99050
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Respiratory insufficiency, Cardiomyopathy, Respiratory failure, Red...	ORPHA:258
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	OMIM:219250
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Cardiomyopathy	ORPHA:26792
Pelizaeus-Merzbacher Disease	Abnormality of visual evoked potentials, Optic atrophy, Cerebral cortical atrophy, Visual impairment	ORPHA:702
Macrophthalmia, Colobomatous, With Microcornea	Myopia, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Chorioretinal coloboma	OMIM:602499
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Myopia, Cerebral visual impairment, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Abn...	ORPHA:480898
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress	OMIM:615042
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Visual loss, Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potent...	OMIM:125310
Senior-Loken Syndrome 9	Macular degeneration, Rod-cone dystrophy, Retinal dystrophy	OMIM:616629
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Transient ischemic attack, Cardiac arrest, First degree atrioventricular bl...	OMIM:115197
Buerger Disease	Acrocyanosis, Vasculitis	ORPHA:36258
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Ocular albinism, Photophobia, Abnormal optic nerve morphology, Abnormali...	ORPHA:79431
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Hydroxyprolinemia, Angioid streaks of the fundus, Hyperphosphatemia, Hyperuricemia,...	OMIM:239000
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory...	ORPHA:333
Craniotubular Dysplasia, Ikegawa Type	Optic nerve compression, Optic atrophy, Optic neuropathy, Mydriasis	OMIM:619727
Congenital Fibrinogen Deficiency	Abnormal bleeding, Tachycardia, Cyanosis, Internal hemorrhage, Prolonged prothrombin time, Gingiv...	ORPHA:335
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L...	OMIM:620067
Mucolipidosis Iii Alpha/Beta	Retinopathy, Increased serum beta-hexosaminidase, Retinal degeneration	OMIM:252600
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Aceruloplasminemia	Abnormality of retinal pigmentation, Decreased circulating ceruloplasmin concentration, Decreased...	ORPHA:48818
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Hypertrophic cardiomyo...	OMIM:620326
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction,...	ORPHA:183
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory tract infection, Atelecta...	ORPHA:365
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cyanosis, Tachypnea,...	ORPHA:555874
Autosomal Recessive Spastic Paraplegia Type 44	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma...	ORPHA:320401
Yellow Nail Syndrome	Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini...	ORPHA:662
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia	OMIM:612716
Criss-Cross Heart	Cyanosis, Tricuspid stenosis, Respiratory insufficiency, Pulmonic stenosis, Mitral stenosis, Supr...	ORPHA:1461
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Purpura, Warfarin-induced skin necrosis, Pulmonary embolism	ORPHA:745
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac...	OMIM:610655
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Cerebellar atrophy, Blindness, Visual loss, Reduced visual acuity, Abnor...	ORPHA:94147
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Congestive heart failure, Heart...	ORPHA:3309
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart murmur, Syncop...	ORPHA:422
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration	ORPHA:542306
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Prolonged QRS complex, Left axis deviation, Congestive hea...	OMIM:261740
Aortic Arch Interruption	Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Cyanosis, Blood press...	ORPHA:2299
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation	OMIM:615516
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia	ORPHA:382
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Pituitary Apoplexy	Mydriasis	ORPHA:95613
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Myopia, Retinal neovascularization	OMIM:619074
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Macular degeneration	OMIM:619780
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakness	OMIM:613561
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie...	OMIM:614299
Micro Syndrome	Abnormality of retinal pigmentation, Cerebral visual impairment, Optic atrophy, Retinal coloboma,...	ORPHA:2510
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion, Rod-cone dystrophy,...	OMIM:250410
Nephronophthisis 11	Anisocoria, Polydipsia, Retinal degeneration	OMIM:613550
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Retinal degeneration	OMIM:277700
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	OMIM:211530
Inhalational Anthrax	Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension	ORPHA:247257
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Mercury Poisoning	Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f...	ORPHA:330021
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse...	OMIM:264800
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Peho Syndrome	Cerebellar atrophy, Neuronal loss in central nervous system, Optic atrophy, Undetectable visual e...	OMIM:260565
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea	ORPHA:2759
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Pulmonary hypopl...	OMIM:613177
Cocaine Intoxication	Tremor, Agitation, Mydriasis	ORPHA:90068
Pseudoxanthoma Elasticum, Forme Fruste	Myopia, Reduced visual acuity, Retinal hemorrhage, Angioid streaks of the fundus, Macular degener...	OMIM:177850
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, El...	ORPHA:423479
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm...	OMIM:618718
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Zygomycosis	Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Hematemesis, Atelectasis, Myocar...	ORPHA:73263
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Cardiomyopathy, Dyspnea, Cough	ORPHA:86812
Lymphatic Malformation 12	Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren...	OMIM:620014
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury...	ORPHA:228116
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Xq12-Q13.3 Duplication Syndrome	Abnormality of visual evoked potentials, Optic disc pallor, Elevated circulating creatine kinase ...	ORPHA:314389
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund...	OMIM:613243
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte...	OMIM:620141
Senior-Loken Syndrome 8	Retinal dystrophy, Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Visual impairment	OMIM:616307
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Bardet-Biedl Syndrome 1	Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hypera...	OMIM:209900
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Elevated circulating creatine kinase concentration, Visual i...	ORPHA:1933
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec...	ORPHA:308552
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Blindness, Optic atrophy, Abnormal autonomic nervous system physiology, Abnor...	ORPHA:35069
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Relapsing Polychondritis	Pericarditis, Dyspnea, Atelectasis, Myocarditis, Erythema, Large vessel vasculitis, Cough, Abnorm...	ORPHA:728
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:600376
Sepsis In Premature Infants	Abnormal bleeding, Tachycardia, Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring,...	ORPHA:90051
Scorpion Envenomation	Tremor, Restlessness, Miosis, Mydriasis	ORPHA:466677
Total Anomalous Pulmonary Venous Return 1	Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp...	OMIM:106700
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Double Outlet Right Ventricle	Tachycardia, Cyanosis, Tachypnea, Heart murmur, Pulmonic stenosis, Pulmonary artery atresia	ORPHA:3426
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Decreased circulating cortisol level, Optic atrophy, Abnormal autonomic ...	OMIM:231550
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Scimitar Syndrome	Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Heart block, Congest...	ORPHA:185
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi...	ORPHA:98914
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Abnormal flash visual evoked potentials, Optic atrophy, Atrophy/Degeneration ...	ORPHA:98755
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria, Dysphagia	OMIM:300858
Multiple Sulfatase Deficiency	Cerebellar atrophy, Cerebral atrophy, Retinal degeneration	OMIM:272200
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu...	ORPHA:141127
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio...	OMIM:120330
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Pneumonia, Right ventricular failure, Nonproductive cough, Dyspnea, Asth...	ORPHA:97287
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Abnormality of visual ...	ORPHA:309256
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Ventricular tachycardia, Respiratory insufficiency, Cardiomyopat...	ORPHA:159
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Dyspnea, Right bundle branch block, Reduced left ventricula...	OMIM:115195
Evans Syndrome	Epistaxis, Dyspnea, Jaundice, Syncope, Bruising susceptibility, Petechiae	ORPHA:1959
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv...	ORPHA:536467
Bickerstaff Brainstem Encephalitis	Anisocoria, Mydriasis	ORPHA:79138
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Congestive heart failur...	ORPHA:31826
Maternal Uniparental Disomy Of Chromosome 2	Elevated amniotic fluid alpha-fetoprotein, Retinal degeneration	ORPHA:96179
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract...	ORPHA:51636
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia, Heart murmur	ORPHA:1867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Myopia, Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Hypop...	OMIM:253280
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Respiratory fai...	OMIM:620278
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Dyspnea, Left posterior fascicular block, Right bundle branch block, Syncop...	OMIM:113900
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Macular coloboma, Atrophy of the spinal cord, Optic at...	ORPHA:79282
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Abnormality of visual ...	ORPHA:309263
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Acrocyanosis, Intern...	ORPHA:49566
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Prolonged QT interval, Tachycardia, Pneumonia, Episodic tachypnea, Jaundice...	ORPHA:26793
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Cardiac arrest, Hypertrophic cardiomyopathy, Inspiratory ...	OMIM:604377
Odontochondrodysplasia 1	Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy	OMIM:184260
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Proteus-Like Syndrome	Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis	ORPHA:2969
Fixed Subaortic Stenosis	Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges...	ORPHA:3092
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Short-Rib Thoracic Dysplasia 12	Neonatal death, Atelectasis, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:269860
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Parietal cortical atrophy, Retinal atrophy, Corpus callosum atrophy	ORPHA:412057
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia...	OMIM:609049
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion	OMIM:306400
Mpdu1-Cdg	Undetectable visual evoked potentials, Optic atrophy, Elevated circulating creatine kinase concen...	ORPHA:79323
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Blindness, Decreased ne...	ORPHA:206436
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis	OMIM:619351
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Supraventricular tachycardi...	ORPHA:97214
Knobloch Syndrome	Retinal detachment, Myopia, Visual loss, Abnormal vitreous humor morphology, Macular degeneration...	ORPHA:1571
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Jaundice, Pulmonary hypoplasia, Neonatal death	OMIM:231680
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circulating creatinine c...	ORPHA:247691
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor	OMIM:207950
Facial Spasm	Anisocoria	OMIM:134300
Antiphospholipid Syndrome, Familial	Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Ir...	OMIM:107320
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Visual loss, Macular degeneration, Abnormal autonomic nervous system physiology, Cerebellar corti...	ORPHA:247234
Agnathia-Otocephaly Complex	Respiratory distress, Pulmonary hypoplasia, Tracheomalacia	OMIM:202650
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Neonatal deat...	OMIM:616482
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials	ORPHA:1389
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Subcutaneous hemorrhage, Pulmonary embolism	ORPHA:743
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Congest...	OMIM:615512
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Resp...	ORPHA:367
Cln5 Disease	Cerebellar atrophy, Atrophy/Degeneration affecting the central nervous system, Corpus callosum at...	ORPHA:228360
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Retinal degeneration	OMIM:248500
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Photophobia, Abnormality of visual evoked potentials, Brain atrophy, High myopia	OMIM:614457
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Cyanosis, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, P...	ORPHA:2326
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Cyanosis, Junct...	ORPHA:137675
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio...	ORPHA:340
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Sinus tachycardia, Telangiectasia of the skin, My...	ORPHA:221
Alexander Disease	Microcoria	OMIM:203450
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Bradycardia, Prolonged neonatal jaundice	ORPHA:226313
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Myopia, Abnormal auditory evoked potentials, Abnormality of ...	OMIM:601455
Double Outlet Left Ventricle	Cyanosis, Pulmonary artery stenosis, Tachypnea, Abnormal right ventricular function, Systolic hea...	ORPHA:3427
Meckel Syndrome 14	Tricuspid regurgitation, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Mitral regurgitation, ...	OMIM:619879
Spastic Paraplegia Type 2	Recurrent respiratory infections, Pulmonary embolism	ORPHA:99015
Carnitine Deficiency, Systemic Primary	Respiratory distress, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Hypertrophi...	OMIM:212140
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Dysphagia, Aggressive behavior	ORPHA:289483
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Telangiectasia	OMIM:608799
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur...	ORPHA:90308
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn...	ORPHA:275766
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema	OMIM:617300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Elevated circulat...	OMIM:236670
Craniofaciofrontodigital Syndrome	Respiratory distress, Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superf...	ORPHA:363705
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Cardiomyopathy	ORPHA:79312
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Episodic respirator...	ORPHA:1199
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V...	ORPHA:206443
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency	ORPHA:1145
Myotonic Dystrophy 1	Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block	OMIM:160900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Tetanus	Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia	ORPHA:3299
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, High myopia,...	ORPHA:485
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Visual impairment, Retinal degeneration	OMIM:618479
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Prematurely aged appearance, Poor wound healing, Progeroid facial appearanc...	OMIM:123700
Rodrigues Blindness	Ectodermal dysplasia, Nasal flaring	OMIM:268320
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Pulmonary hypoplasia, Neonatal death, Petechiae, Purpura	OMIM:608013
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Palpitations, Hypertrophi...	OMIM:613873
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Transient ischemic attack, Cutis marmorata, Supraventricular arrhythmia, Pu...	ORPHA:3260
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Cataract, Miosis, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape, Slow pup...	ORPHA:45358
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Cerebral ischemia	ORPHA:927
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Transient ischemic attack, Myocardial infarction, Jaundice, Prolonged neona...	OMIM:274150
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:99125
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap...	ORPHA:348
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Abnormality of visual ...	ORPHA:309271
Cirrhotic Cardiomyopathy	Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Left ventricular dias...	ORPHA:57777
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Isolated Atp Synthase Deficiency	Respiratory distress, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	ORPHA:254913
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re...	ORPHA:209905
Bacterial Toxic-Shock Syndrome	Respiratory distress, Shock, Tachycardia, Sinusitis, Pneumonia, Respiratory tract infection, Myoc...	ORPHA:36234
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth, Pulmonary hypoplasia	OMIM:151210
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cat...	OMIM:267750
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia	OMIM:620306
White-Sutton Syndrome	Myopia, Optic nerve hypoplasia, Mild myopia, Hypermetropia, Cerebral atrophy, Abnormality of visu...	OMIM:616364
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Trichinellosis	Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Conjunctivitis, Abnormal optic ...	ORPHA:863
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Hypotension, Inspiratory stridor	ORPHA:100050
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Recurrent respiratory infections, Hypertrophic cardiomyopathy	OMIM:619383
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Congenital Enterovirus Infection	Respiratory distress, Abnormal bleeding, Myocarditis, Cardiomyopathy, Hypotension, Pleural effusion	ORPHA:292
Hurler Syndrome	Neurodegeneration, Retinal degeneration	OMIM:607014
Duane Retraction Syndrome	Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Blepharospa...	ORPHA:233
Familial Dysautonomia	Corneal opacity, Corneal erosion, Abnormal pupil morphology, Optic atrophy, Heterochromia iridis	ORPHA:1764
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Bradycardia, Atrioventricular block	OMIM:614407
Plague	Conjunctival hyperemia, Anorexia, Mydriasis	ORPHA:707
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Prematur...	ORPHA:3342
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Gastrointestinal hemorrhage, Sudden cardi...	ORPHA:537
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Mucopolysaccharidosis Type 3	Myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, Central ne...	ORPHA:581
Cockayne Syndrome A	Cerebellar atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduct...	OMIM:216400
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea	OMIM:619580
Trichothiodystrophy	Myopia, Photophobia, Macular degeneration, Diffuse cerebellar atrophy, Cerebral cortical atrophy,...	ORPHA:33364
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Co...	OMIM:617303
Pulmonary Hypertension, Primary, 2	Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni...	OMIM:615342
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Cyanosis, Anomalous origin of one pulmonary artery from ascend...	ORPHA:3384
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Recurrent respiratory infections	ORPHA:329178
Q Fever	Respiratory distress, Pericarditis, Pneumonia, Myocarditis, Vasculitis, Abnormal pulmonary inters...	ORPHA:781
Diaphanospondylodysostosis	Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:608022
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Hypertension, Decre...	OMIM:223900
Cockayne Syndrome Type 3	Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Hypermetropia, Photoph...	ORPHA:90324
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage	OMIM:251000
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Ectopia pupillae, Astigmatism, Optic atrophy, Cataract	OMIM:618727
Hermansky-Pudlak Syndrome	Myopia, Amblyopia, Ocular albinism, Photophobia, Abnormal optic nerve morphology, Abnormality of ...	ORPHA:79430
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Large central visual field defect, Abnormal fov...	ORPHA:580
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Warburg Micro Syndrome 2	Undetectable visual evoked potentials, Optic atrophy, Global brain atrophy	OMIM:614225
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Partial anomalous pulmonary venous return, Systolic heart murmur, Cyanosis	OMIM:617478
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti...	ORPHA:790
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Pulmonary fibrosis	OMIM:612852
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lo...	ORPHA:567
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Cerebral degeneration, Retinal degenera...	OMIM:234200
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation	ORPHA:268943
Cockayne Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Reti...	ORPHA:191
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Retinal degeneration	OMIM:208500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Dy...	OMIM:609040
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,...	ORPHA:1435
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter...	ORPHA:2905
Myasthenia Gravis	Raynaud phenomenon, Dyspnea, Acrocyanosis	ORPHA:589
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Achondroplasia	Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia	OMIM:100800
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Nocardiosis	Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Em...	ORPHA:31204
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis, Pulmonic stenosis	ORPHA:3304
Cryptococcosis	Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Moebius Syndrome	Respiratory distress	OMIM:157900
Aicardi-Goutieres Syndrome 1	Vasculitis, Erythema, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Oculocerebrorenal Syndrome Of Lowe	Atelectasis, Recurrent respiratory infections, Respiratory insufficiency, Death in infancy	ORPHA:534
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Abnormal bleeding, Congestive heart failure, Recurrent pneumonia, Prolonged...	OMIM:616271
Revesz Syndrome	Exudative retinopathy, Megalocornea, Leukocoria	OMIM:268130
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,...	OMIM:164310
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p...	ORPHA:70591
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea, Pulmonary edema	ORPHA:79330
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent upper respiratory tract infections, Recurrent pneumonia	OMIM:607143
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developm...	OMIM:175780
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Apnea, Concentric hypertrophic cardiomyopathy, Respiratory insufficie...	OMIM:252010
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood	OMIM:613848
Colchicine Poisoning	Respiratory distress, Congestive heart failure, Myocarditis, Hypovolemia, Cardiorespiratory arres...	ORPHA:31824
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con...	ORPHA:505248
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Tarp Syndrome	Cyanosis, Apnea, Pulmonary hypoplasia	ORPHA:2886
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ...	OMIM:614748
Leptospirosis	Respiratory distress, Pericarditis, First degree atrioventricular block, Jaundice, Retinal hemorr...	ORPHA:509
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abn...	ORPHA:909
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Tonic pupil, Abnormal pupil morphology, Slow pupillary light response	ORPHA:90658
Charcot-Marie-Tooth Disease Type 4C	Abnormal pupillary light reflex, Optic atrophy, Anisocoria, Abnormal optic nerve morphology, Head...	ORPHA:99949
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous...	OMIM:616749
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Coccidioidomycosis	Respiratory distress, Pericarditis, Pneumonia, Vasculitis, Pulmonary infiltrates, Vasospasm, Pleu...	ORPHA:228123
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn...	OMIM:256800
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Congestive heart failure, Jaundice, Death in infancy	OMIM:617156
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Gaucher Disease, Type I	Macular atrophy	OMIM:230800
Microlissencephaly-Micromelia Syndrome	Respiratory distress	ORPHA:50810
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Cardiomyopathy, Neonatal respiratory distress, Tracheomalacia	OMIM:217980
Overhydrated Hereditary Stomatocytosis	Prolonged neonatal jaundice, Jaundice, Pulmonary embolism	OMIM:185000
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Bohring-Opitz Syndrome	Retinal atrophy, Optic atrophy, High myopia	ORPHA:97297
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia, Abnormality of visual evoked potentials, Optic nerve compression,...	ORPHA:667
Chand Syndrome	Atelectasis	ORPHA:1401
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea, Prolonged prothrombin time, Petechiae, Purpura	ORPHA:2330
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Tricuspid regurgitation, Persistent fetal circulation	OMIM:612863
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper...	ORPHA:99827
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Japanese Encephalitis	Respiratory distress, Pulmonary edema, Respiratory paralysis, Abnormal pattern of respiration, Ir...	ORPHA:79139
Listeriosis	Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Congestive heart failure, Myocarditis...	ORPHA:533
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine kinase concentration,...	ORPHA:2785
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Prominent superficial blood vessels, Cyanosis, Mitral stenosis, Angina pect...	ORPHA:740
Idiopathic Steroid-Resistant Nephrotic Syndrome	Respiratory tract infection, Pulmonary embolism	ORPHA:567548
Hyperoxaluria, Primary, Type I	Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent cla...	OMIM:259900
Mgat2-Cdg	Respiratory distress, Abnormal bleeding, Reflex asystolic syncope, Arrhythmia, Recurrent upper an...	ORPHA:79329
Ruvalcaba Syndrome	Abnormality of visual evoked potentials	ORPHA:3121
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis	ORPHA:210122
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Pulmonary embolism, Respiratory tract infection, Dyspnea, Hypertension, Pleural effusion	ORPHA:567546
Postinfectious Vasculitis	Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Raynaud phenomenon, Cardiomyop...	ORPHA:48435
Alport Syndrome	Macular degeneration, Retinal flecks	ORPHA:63
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Bilateral trilobed lung, Cyanosis, Total anomalous pulmonary venous return,...	OMIM:306955
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion, Pulmonary hypoplasia	OMIM:620369
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections	OMIM:300968
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Recurrent respiratory infections, Pneumonia, Urticaria, Interstitial pneumo...	ORPHA:37042
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration	OMIM:618733
Cockayne Syndrome B	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Cerebral...	OMIM:133540
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Digeorge Syndrome	Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Recurrent sinusitis	OMIM:188400
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respiratory tract inf...	ORPHA:293987
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect	OMIM:183900
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Hypertension	ORPHA:1555
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Cyanosis, Tricuspid stenosis, Valvular pulmonary stenosis, Mitral regurg...	OMIM:212093
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Stridor, Respirat...	ORPHA:79404
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Hypertension, Respiratory failure, Generalized...	ORPHA:805
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Cataract, Persistent pupillary membrane	OMIM:257850
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria	ORPHA:1556
Say-Barber-Miller Syndrome	Macular degeneration, Rod-cone dystrophy, Optic atrophy	ORPHA:3132
Primary Hyperoxaluria	Cutis marmorata, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermitten...	ORPHA:416
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Hypertension, Palmoplantar cutis laxa	OMIM:123790
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microcornea, Ectopia pupillae, Cataract, Sclerocornea	OMIM:615877
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane	OMIM:613150
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Emphysema	OMIM:224690
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Apnea	ORPHA:17
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Retinal dystrophy, Visual loss, Peripheral visual field loss, Macular degeneration, Rod-cone dyst...	OMIM:266920
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Nyctalopia, Constriction of peripheral visual field, Macular atrophy, Hypertriglyceridemia	OMIM:619418
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Hypertriglyceridemia, Retinal degeneration	ORPHA:79474
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress	OMIM:260400
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Episodic respiratory dist...	ORPHA:255210
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections	ORPHA:177907
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Dysphagia	OMIM:615510
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:256810
Pitt-Hopkins Syndrome	Acrocyanosis, Abnormal pattern of respiration, Hyperventilation	ORPHA:2896
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles	OMIM:305100
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae, Attention deficit hyperactivity disorder	OMIM:618223
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Cerebral visual impairment, Visual loss, Cerebral cortical neurodegeneration,...	OMIM:203700
Adnp Syndrome	Respiratory distress, Aspiration, Recurrent upper respiratory tract infections	ORPHA:404448
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Visual impairment, Abnormality of visual evoked potentials	ORPHA:512
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Recurrent upper respiratory tract inf...	OMIM:114290
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Gitelman Syndrome	Respiratory distress, Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Sy...	ORPHA:358
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopathy, Erythema, Mitral ...	ORPHA:2556
Generalized Arterial Calcification Of Infancy	Respiratory distress, Cyanosis, Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak...	ORPHA:51608
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections	OMIM:615273
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2554
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Pulmonic s...	OMIM:616268
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria, Abnormal repetitive mannerisms	OMIM:618653
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co...	ORPHA:95455
Scalp-Ear-Nipple Syndrome	Anisocoria, Cataract, Iris coloboma, Developmental cataract	OMIM:181270
Classical Ehlers-Danlos Syndrome	Prolonged bleeding time, Orthostatic hypotension, Prematurely aged appearance, Poor wound healing...	ORPHA:287
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Histidinemia	Hyperactivity	ORPHA:2157
Schinzel-Giedion Syndrome	Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia	ORPHA:798
Aicardi-Goutières Syndrome	Cutis marmorata, Raynaud phenomenon, Prolonged neonatal jaundice, Hypertrophic cardiomyopathy, Ac...	ORPHA:51
Rubinstein-Taybi Syndrome 1	Respiratory tract infection, Recurrent upper respiratory tract infections, Respiratory distress	OMIM:180849
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Pulmonary hypoplasia	ORPHA:83617
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea	ORPHA:3206
Superficial Siderosis	Anisocoria	ORPHA:247245
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Nasal flaring	ORPHA:466943
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia	ORPHA:3404
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Abnormal lung lobation, Respiratory distress	ORPHA:508488
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Cataract, Abnormal pupil morphology, Optic atrophy, Dysphagia, Microcornea, Ectopia...	ORPHA:261552
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Pulmonary artery stenosis, Pulmonic stenosis	ORPHA:2255
Witteveen-Kolk Syndrome	Hyperactivity, Cataract, Aggressive behavior, Anisocoria, Attention deficit hyperactivity disorde...	OMIM:613406
Mowat-Wilson Syndrome	Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma	OMIM:235730
Wolf-Hirschhorn Syndrome	Abnormal repetitive mannerisms, Ectopia pupillae, Iris coloboma, Rieger anomaly	OMIM:194190
Doors Syndrome	Respiratory distress, Aspiration pneumonia	ORPHA:79500
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Cardiomyopathy, Recurrent upper and lower respiratory tract infections	ORPHA:480880
Multiple Osteochondromas	Pneumothorax, Hemothorax	ORPHA:321
Hypermobile Ehlers-Danlos Syndrome	Arrhythmia, Acrocyanosis, Apnea	ORPHA:285
Coffin-Lowry Syndrome	Mitral regurgitation, Acrocyanosis, Cutis marmorata	OMIM:303600
Alström Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Retinal pigment epithelial atrophy, Retina...	ORPHA:64
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Recurrent pneumonia	ORPHA:99646
Sponastrime Dysplasia	Microcoria, Cataract, Congenital aphakia	ORPHA:93357
Pmm2-Cdg	Respiratory distress, Pericarditis, Angina pectoris, Abnormal subcutaneous fat tissue distributio...	ORPHA:79318
Vascular Ehlers-Danlos Syndrome	Keratoconus, Abnormal pupil morphology	ORPHA:286

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 Lpcat1

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 Lpcat1.

No publications found that use IMPC mice or data for Lpcat1.

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
Lpcat1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Lpcat1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Lpcat1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Lpcat1^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Lpcat1^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us