Gene Summary

Name:
lysophosphatidylcholine acyltransferase 1
Synonyms:
Aytl2,  rd11,  2900035H07Rik,  LPCAT

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Lpcat1tm1b(EUCOMM)Hmgu HOM Early adult 1.73×10-05
impaired pupillary reflex Lpcat1tm1b(EUCOMM)Hmgu HOM Early adult 1.01×10-14
mydriasis Lpcat1tm1b(EUCOMM)Hmgu HOM Early adult 8.69×10-15
abnormal retina morphology Lpcat1tm1b(EUCOMM)Hmgu HOM Early adult 8.33×10-17
abnormal retinal vasculature morphology Lpcat1tm1b(EUCOMM)Hmgu HOM Early adult 3.99×10-08

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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
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

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Color vision defect, Cone/cone-rod dystrophy, Visual imp... OMIM:603649
Macular Dystrophy, Retinal, 2
Granular macular appearance, Central scotoma, Macular dystrophy, Reduced visual acuity, Retinal p... OMIM:608051
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
Macular Degeneration, Age-Related, 13
Drusen, Progressive visual loss, Choroidal neovascularization, Macular degeneration, Macular scar OMIM:615439
Retinitis Pigmentosa 48
Visual impairment, Rod-cone dystrophy, Macular degeneration OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Visual impairment, Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Stargardt Disease 3
Macular atrophy, Macular flecks, Macular dystrophy, Reduced visual acuity, Visual impairment OMIM:600110
Macular Dystrophy, Retinal, 3
Macular drusen, Central scotoma, Reduced visual acuity, Retinal pigment epithelial atrophy, Color... OMIM:608850
Macular Dystrophy, Patterned, 3
Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Bronchopulmonary Dysplasia
Wheezing, Right ventricular failure, Central apnea, Hyperoxemia, Abnormal respiratory system phys... ORPHA:70589
Sorsby Pseudoinflammatory Fundus Dystrophy
Severely reduced visual acuity, Subretinal deposits, Hyporeflective spaces on macular OCT, Choroi... ORPHA:59181
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Reduced visual acuity, Subretinal fluid, Visual ... OMIM:153700
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Asbestos Intoxication
Wheezing, Right ventricular failure, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea,... ORPHA:2302
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia, Metamorphopsia, Visual field defect, Color vision de... ORPHA:1243
Late-Onset Retinal Degeneration
Retinal degeneration, Rod-cone dystrophy, Scotoma, Visual loss, Blindness, Retinopathy, Sub-RPE d... OMIM:605670
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Visual impairment, Attenuation of retinal blood vessels OMIM:618513
Macular Degeneration, Early-Onset
Choroidal neovascularization, Reduced visual acuity, Macular degeneration OMIM:616118
Retinal Cone Dystrophy 1
Retinal degeneration, Progressive visual loss, Bull's eye maculopathy, Color vision defect, Photo... OMIM:180020
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Progressive visual loss, Central scotoma, Large central visual f... ORPHA:85128
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Retinal degeneration, Increased neuronal autofluorescent lipopigment OMIM:601780
Stargardt Disease 4
Reduced visual acuity, Retinal flecks, Macular degeneration OMIM:603786
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Hypermetropia, Progressive visual loss, Mizuo phenomenon, ... OMIM:312700
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... OMIM:267450
Stargardt Disease
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Central scotoma, Retin... ORPHA:827
Pulmonary Blastoma
Cough, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... OMIM:615872
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Leber Congenital Amaurosis With Early-Onset Deafness
High hypermetropia, Reduced visual acuity, Retinal degeneration OMIM:617879
Macular Degeneration, X-Linked Atrophic
Reduced visual acuity, Macular degeneration OMIM:300834
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Peripheral Cone Dystrophy
Optic atrophy, Pericentral scotoma, Optic disc pallor, Peripheral retinal degeneration, Paracentr... OMIM:609021
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Visual field defect, Rod-cone dystrophy, Attenuation of retin... OMIM:609923
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... OMIM:177650
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Death in infancy, Tachypnea... OMIM:265120
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Bradycardia, Tachycardia, Respiratory tract infection, Pulmonary... ORPHA:70587
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Cone-Rod Dystrophy 5
Reduced visual acuity, Cone dystrophy, Macular degeneration, Color vision defect, Photophobia, Co... OMIM:600977
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy OMIM:268010
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Retinitis Pigmentosa 13
Retinal degeneration, Hypopigmentation of the fundus, Rod-cone dystrophy, Constriction of periphe... OMIM:600059
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Death in infancy, Nonspecif... OMIM:610921
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Recurrent upper re... OMIM:263000
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Retinal degeneration, Increased neuronal aut... OMIM:204500
Cone-Rod Dystrophy 13
Reduced visual acuity, Macular degeneration, Color vision defect, Photophobia, Cone/cone-rod dyst... OMIM:608194
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Reduced visual... OMIM:618195
Rowley-Rosenberg Syndrome
Hypertension, Pulmonary arterial hypertension, Reduced subcutaneous adipose tissue, Recurrent pne... OMIM:268500
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough ORPHA:60026
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Wagner Vitreoretinopathy
Optic atrophy, Myopia, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, ... OMIM:143200
Bietti Crystalline Dystrophy
Severely reduced visual acuity, Subretinal deposits, Central scotoma, Large central visual field ... ORPHA:41751
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Achromatopsia
Myopia, Monochromacy, Hypermetropia, Hypoplasia of the fovea, Central scotoma, Retinal pigment ep... ORPHA:49382
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Subpleural honeycombing, Hypertension, Crac... ORPHA:79126
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Photophobia, Cone/cone-rod dystrop... OMIM:610381
Recurrent Respiratory Papillomatosis
Wheezing, Syncope, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respi... ORPHA:60032
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Pulmonary insufficiency, Atelectasis, Transient pulmonary infiltrates, Pneum... ORPHA:70588
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Cough, Recurrent lowe... OMIM:616726
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Drusen, Metamorphopsia, Choroidal neovascularization, Macular dystrophy, Reduced... OMIM:608161
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Uveal Melanoma
Abnormal fundus morphology, Mydriasis, Retinal detachment, Vitreous hemorrhage, Zonular cataract,... ORPHA:39044
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Myopia, Reduced visual acuity, Retinal pigment epithelial mot... OMIM:304020
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism, Warfarin-induced skin necrosis OMIM:176860
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Central scotoma, Macular dystrophy, Reduced visual acuity, Ab... OMIM:136550
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Recurrent upper respir... ORPHA:922
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuit... OMIM:600138
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Progressive visual loss, Rod-cone... OMIM:613862
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Nyctalopia, Rod-cone dystrophy OMIM:615922
Retinitis Pigmentosa 68
Nyctalopia, Visual field defect, Retinal atrophy, Rod-cone dystrophy OMIM:615725
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesio... OMIM:618144
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Ground-glass opacification, Cough, Respiratory distress, Cyanosis, Intercos... ORPHA:91359
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Retinitis Pigmentosa 80
Progressive visual loss, Macular atrophy, Blindness OMIM:617781
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Atelectasis, Recurrent bronchitis OMIM:300455
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneu... ORPHA:2902
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, B... ORPHA:1303
Cone-Rod Dystrophy 15
Progressive visual loss, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Constriction of ... OMIM:613660
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Reduced visual acuity, Retinal pigment epithelial atroph... OMIM:619007
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Reduced visual acuity, Hypermetropia, Retinal flecks OMIM:611809
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Hypermetropia, Retinal degeneration, Constriction of peripheral visual field, Ny... OMIM:267760
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Achromatopsia 7
Macular atrophy, Hypoplasia of the fovea, Central scotoma, Reduced visual acuity, Absent foveal r... OMIM:616517
Cone Dystrophy 3
Macular atrophy, Progressive visual loss, Reduced visual acuity, Photophobia, Cone/cone-rod dystr... OMIM:602093
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Ophthalmoplegia, External, And Myopia
Myopia, Retinal degeneration, Chorioretinal degeneration OMIM:311000
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Visual impairm... OMIM:601718
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Cerebellar atrophy, Retinal degeneration OMIM:614322
Morm Syndrome
Retinal dystrophy, Progressive night blindness, Visual impairment, Retinal atrophy ORPHA:75858
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Retinitis Pigmentosa 37
Rod-cone dystrophy, Red-green dyschromatopsia, Nyctalopia, Pigmentary retinopathy, Photophobia, C... OMIM:611131
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Elevated bronchoalveolar... OMIM:610978
Microphthalmia, Isolated 5
Foveoschisis, Hypermetropia, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, ... OMIM:611040
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Hypoxemia, Pulmonary capillary hemangiomatosis, Centrilobular ground-g... ORPHA:199241
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Progressive visual loss, High myopia, Paracentral scotoma, Constriction of ... OMIM:210370
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Large central visual field defect, Macular edema, Macular degeneration, ... ORPHA:411527
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Progressive ... OMIM:256730
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Visual impairment, Macular edema, Rod-cone ... OMIM:613750
Retinal Dystrophy And Obesity
Myopia, Retinal dystrophy, Peripapillary atrophy, Reduced visual acuity, Retinal pigment epitheli... OMIM:616188
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Progressive visual loss, Bone spicule pigmentation of the ret... OMIM:614500
Macular Degeneration, Age-Related, 1
Macular drusen, Progressive visual loss, Choroidal neovascularization, Macular degeneration, Macu... OMIM:603075
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... OMIM:234810
Bothnia Retinal Dystrophy
Retinal dystrophy, Nyctalopia, Macular degeneration OMIM:607475
Leber Congenital Amaurosis 15
Myopia, Optic disc pallor, Retinal degeneration, Hypermetropia, Visual impairment, Rod-cone dystr... OMIM:613843
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Abnorma... ORPHA:724
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy, Cranial nerve compression OMIM:250450
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Ground-glass opacification, ... ORPHA:1302
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Visual impairment, Ret... ORPHA:1852
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... ORPHA:3348
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cough, Cyanosis, Recurrent respiratory infections, Decreased ... OMIM:610910
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Macular degene... OMIM:618826
Retinitis Pigmentosa 73
Constriction of peripheral visual field, Nyctalopia, Retinal atrophy, Rod-cone dystrophy OMIM:616544
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Hypoxemia, Honeycomb lung, Chronic pulmonary obstruction, Chronic bronchitis, Bronchiec... ORPHA:79127
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Retinal dystrophy, Reduced visual acuity, Absent foveal reflex, Visua... OMIM:615147
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Honeycomb lung, Crackles, Bronchiectasis, Ground-glass opacification, Co... ORPHA:2032
Progressive Bifocal Chorioretinal Atrophy
Myopia, Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy, Visual impairment ORPHA:75373
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Centrilobular ground-glass opacification on pulmonary HRCT, Interlobu... OMIM:265450
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Ceroid Lipofuscinosis, Neuronal, 5
Progressive visual loss, Cerebellar atrophy, Retinal degeneration, Increased neuronal autofluores... OMIM:256731
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration, Cerebral atrophy OMIM:616211
Oguchi Disease
Myopia, Congenital stationary night blindness, Mizuo phenomenon, Rod-cone dystrophy, Macular dege... ORPHA:75382
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Photophobia, Choro... ORPHA:179
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Myopia, Progressive visual loss, Peripheral retinal degeneration, Central retinal exudate, Dyschr... OMIM:264420
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy, Reduced visual acuity, Photophobia, Nyctalopia OMIM:616502
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... OMIM:178500
Pleural Mesothelioma
Abnormal respiratory system physiology, Cough, Respiratory distress, Abnormal cardiovascular syst... ORPHA:50251
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Tachycardia, Respiratory distress, A... ORPHA:264675
Cone-Rod Dystrophy 2
Macular hyperpigmentation, Metamorphopsia, Central scotoma, Bone spicule pigmentation of the reti... OMIM:120970
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluore... OMIM:204200
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy OMIM:615993
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Reduced visual acuity, Blindness, Attenuation of retinal bloo... OMIM:604393
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Tricuspid regurgitation, P... ORPHA:2414
Bardet-Biedl Syndrome 21
Myopia, Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone d... OMIM:617406
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Cough, Aspiration, Recurrent respiratory infections, Cyan... ORPHA:2004
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cons... OMIM:180104
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Bardet-Biedl Syndrome 4
Retinal degeneration, Nyctalopia, Rod-cone dystrophy OMIM:615982
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Respiratory distress, Cyanosis, Low-output congestive heart failure ORPHA:91130
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Reduced visual acuity, Retinal hole, Peripheral ... OMIM:305390
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Progressive gait ataxia, Progressive cerebellar ataxia, Truncal ataxia, Limb ataxia ORPHA:247815
Retinitis Pigmentosa 51
High myopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Visual impairment, R... OMIM:613464
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... OMIM:178550
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis OMIM:612336
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Optic Atrophy 1
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Central scotoma, ... OMIM:165500
Chorioretinal Atrophy, Progressive Bifocal
Myopia, Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy, Visual impairment OMIM:600790
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... OMIM:614370
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Acute Lung Injury
Shock, Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial mor... ORPHA:178320
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy OMIM:602271
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Oliver-Mcfarlane Syndrome
Retinal degeneration, Pigmentary retinopathy OMIM:275400
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Retinitis Pigmentosa 77
Reduced visual acuity, Rod-cone dystrophy, Cystoid macular edema, Nyctalopia, Retinal atrophy OMIM:617304
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Blin... ORPHA:141
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Reduced visual acuity, Retinal hole, Retinal exudate, ... OMIM:605750
Diabetes And Deafness, Maternally Inherited
Constriction of peripheral visual field, Retinal degeneration, Pigmentary retinopathy OMIM:520000
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Retinal degeneration, Rod-cone dystrophy OMIM:615558
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Visual field defect, Abnormality of vision, Color vision de... ORPHA:99000
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Macular degeneration, Decreased nerve conduction velocity, Drusen OMIM:608895
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor, Reduced visual acuity, Constriction of peripheral visual fiel... OMIM:617460
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... OMIM:610202
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Reduced visual acuity, Peripheral retinal avascularization, Retinal ... OMIM:133780
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Central scotoma, Visual impairment, Visual lo... OMIM:616648
Succinic Acidemia
Respiratory distress OMIM:600335
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
High hypermetropia, Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macu... OMIM:145350
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Visual loss, Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy OMIM:304030
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Miosis, Iris coloboma, Retinal detach... OMIM:212550
Retinal Cone Dystrophy 3B
Myopia, Macular atrophy, Scotoma, Photophobia, Cone/cone-rod dystrophy, Nyctalopia OMIM:610356
Laryngeal Web, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Stridor OMIM:150360
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Cerebral ischemia, Abnormal onset of bleeding ORPHA:3325
Mucolipidosis Iv
Optic atrophy, Cerebellar atrophy, Retinal degeneration, Photophobia, Visual impairment OMIM:252650
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Retinitis Punctata Albescens
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Progressive visual loss, Central scotom... ORPHA:52427
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Dyspnea, Right ventricular c... OMIM:610476
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Bronchogenic Cyst
Pneumonia, Bronchogenic cyst, Cough, Pulmonary cyst, Abnormal pleura morphology, Dyspnea, Abnorma... ORPHA:2357
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Cerebellar atrophy, Retinopathy, Cerebral atro... OMIM:616171
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Retinitis Pigmentosa 41
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:612095
Retinitis Pigmentosa 86
Optic disc pallor, Progressive visual loss, Bone spicule pigmentation of the retina, Retinal pigm... OMIM:618613
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Exudative Vitreoretinopathy 6
Myopia, Exudative vitreoretinopathy, Progressive visual loss, Retinal detachment, Posterior vitre... OMIM:616468
Cone-Rod Dystrophy, X-Linked, 3
Myopia, Optic disc pallor, Central scotoma, Reduced visual acuity, Retinal detachment, Abnormalit... OMIM:300476
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Dyspnea, Congestive heart failure OMIM:613255
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Optic disc drusen, Retinal pigment epithelial mottling, Retina... ORPHA:364055
Staphylococcal Necrotizing Pneumonia
Shock, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Pulmonary pneumatocele, Cough, Pleural empy... ORPHA:36238
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... ORPHA:411703
Pulmonary Arteriovenous Malformation
Hypoxemia, Telangiectasia, Palpitations, Epistaxis, Pulmonary arterial hypertension, Cough, Pulmo... ORPHA:2038
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Irvan Syndrome
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Reduced visual acuity, Macular e... ORPHA:209943
Immunodeficiency 8
Hyperactivity OMIM:615401
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... OMIM:193220
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Macular atrophy, Patchy atrophy of the retinal pigment epithelium... ORPHA:67042
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Exertional dyspnea, Pulmonary fibrosis, Right bundle branch block, Atelectasis ORPHA:254361
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Photophobia, Retinal thinning, Macular degeneration OMIM:270200
Slc35A1-Cdg
Hypoxemia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Respiratory distress, Prolon... ORPHA:238459
Hsd10 Mitochondrial Disease
Visual loss, Optic atrophy, Retinal degeneration, Cerebral cortical atrophy OMIM:300438
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Monosodium Glutamate Sensitivity
Palpitations, Dyspnea, Flushing OMIM:231630
Gaucher Disease Type 2
Abnormal pattern of respiration, Cough, Respiratory distress, Cardiac arrest, Recurrent respirato... ORPHA:77260
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Perching Syndrome
Respiratory distress OMIM:617055
Poretti-Boltshauser Syndrome
Myopia, Retinal atrophy, Retinal dystrophy, Amblyopia, Retinal thinning OMIM:615960
Cone-Rod Dystrophy And Hearing Loss 1
Photophobia, Hemeralopia, Macular degeneration, Dyschromatopsia, Visual impairment, Retinal atrophy OMIM:617236
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Retinitis Pigmentosa 50
Optic disc pallor, Reduced visual acuity, Retinal flecks, Rod-cone dystrophy, Retinal detachment,... OMIM:613194
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Erythema, Upper airway obstruction, Respiratory distress, Abnormal capillary physiology ORPHA:100057
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Cough, Pulmonary hemorrhage, A... OMIM:616414
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea OMIM:613490
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... OMIM:180105
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Neuronal loss in central nerv... OMIM:610127
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Blindn... OMIM:605549
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Choroideremia
Myopia, Abnormality of retinal pigmentation, Progressive visual loss, Visual impairment, Abnormal... ORPHA:180
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration, Peripheral vis... OMIM:613767
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Spinocerebellar Ataxia 7
Progressive visual loss, Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Nephronophthisis 14
Retinal degeneration OMIM:614844
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Ground-glass opacification, Decreased ... OMIM:300770
Macrophthalmia, Colobomatous, With Microcornea
Myopia, Macular atrophy, Reduced visual acuity OMIM:602499
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Respiratory distress, Death in infancy OMIM:604377
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Progressive visual loss, Rod-cone dystrophy, Co... ORPHA:436245
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Idiopathic Bronchiectasis
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... ORPHA:60033
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... ORPHA:133
Neovascular Glaucoma
Abnormality of the optic nerve, Corneal stromal edema, Retinal vascular proliferation, Iris neova... ORPHA:94058
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy OMIM:615981
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Rod-cone dystrophy OMIM:618220
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:254210
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Retinal degeneration, Macular degeneration, Vis... OMIM:604360
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Myopia, Hypermetropia, Elevated circulating creatine kinase concentration, Retinal dystrophy, Amb... ORPHA:370022
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Visual field ... OMIM:613581
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Cough, Cyanosis, Decreased DLCO, Restrictive ventilato... ORPHA:747
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect... ORPHA:60025
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress OMIM:614399
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Progressive v... ORPHA:1215
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Tachypnea, Supraventricular tachycardia, Abnorma... ORPHA:45452
Cone-Rod Dystrophy 10
Progressive visual loss, Rod-cone dystrophy, Macular degeneration, Peripheral visual field loss, ... OMIM:610283
Abetalipoproteinemia
Abetalipoproteinemia, Retinal degeneration, Retinopathy OMIM:200100
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Apnea, ... ORPHA:2257
Choanal Atresia
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Abnormal nasal mucus... ORPHA:137914
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy, Atelectasis OMIM:300219
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... ORPHA:99103
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Combined cyst... ORPHA:723
Acquired Methemoglobinemia
Hypoxemia, Syncope, Palpitations, Tachycardia, Respiratory distress, Cyanosis, Dyspnea, Arrhythmia ORPHA:464453
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Vitreous hemorrhage OMIM:612304
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Late Infantile Neuronal Ceroid Lipofuscinosis
Myopia, Cerebellar atrophy, Retinal degeneration, Abnormality of visual evoked potentials, Reduce... ORPHA:168491
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia, Atelectasis ORPHA:896
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Congestive heart failure OMIM:301021
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Pneumonia, Systolic heart murmur, Palpit... ORPHA:99104
Sjögren-Larsson Syndrome
Myopia, Abnormality of retinal pigmentation, Macular degeneration, Retinopathy, Photophobia ORPHA:816
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:605809
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
High hypermetropia, Macular atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Reti... OMIM:619260
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy ORPHA:90654
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Neonatal respiratory distress, Pulmonary situs ambiguus, Bronchiectas... ORPHA:244
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal respiratory system physiology, Third heart sound, Exertional dyspnea, Abnormall... ORPHA:99106
Refsum Disease, Classic
Nyctalopia, Retinal degeneration, Elevated levels of phytanic acid, Rod-cone dystrophy OMIM:266500
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Ocular albinism, Abnormal pupil morphology, Iris hypopigmentation, Astig... ORPHA:54
Alg6-Cdg
Decreased LDL cholesterol concentration, Retinal degeneration, Rod-cone dystrophy, Hypoalbuminemia ORPHA:79320
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Photophobia, Amblyopia, Reduced... ORPHA:352731
Diffuse Alveolar Hemorrhage
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Ground-glass opacification, Cough, Pulm... ORPHA:90060
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Retinal degeneration, Large central visual field defect, V... ORPHA:79264
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Aceruloplasminemia
Increased circulating ferritin concentration, Aceruloplasminemia, Retinal degeneration, Decreased... OMIM:604290
Alpha-2-Plasmin Inhibitor Deficiency
Hemothorax, Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility OMIM:262850
Retinitis Pigmentosa And Erythrocytic Microcytosis
Myopia, Optic disc pallor, Photoreceptor layer loss on macular OCT, Decreased serum iron, Retinal... OMIM:616959
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Thiamine-Responsive Megaloblastic Anemia Syndrome
Visual loss, Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration OMIM:249270
Ataxia With Vitamin E Deficiency
Visual impairment, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, ... ORPHA:96
Spastic Paraplegia 15, Autosomal Recessive
Reduced visual acuity, Retinal degeneration, Visual impairment, Macular degeneration OMIM:270700
Complete Atrioventricular Septal Defect
Wheezing, Right ventricular failure, Left-to-right shunt, Abnormal P wave, Crackles, Systolic hea... ORPHA:1329
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Pulmonary hypoplasia, Respiratory insufficiency, Neonatal death, Tracheo... OMIM:245650
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Respiratory insufficiency OMIM:601612
Progressive Familial Heart Block, Type Ia
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... OMIM:113900
Retinal Venous Beading
Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Saccular conjunctival dilata... OMIM:180080
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Blindness, Macular degeneration ORPHA:1573
Lymphoid Interstitial Pneumonia
Wheezing, Hypoxemia, Subpleural interstitial thickening, Crackles, Bronchiectasis, Centrilobular ... ORPHA:79128
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Amblyopia, Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Retinal dystrophy, Hypoplasia of the retina, Cataract OMIM:263100
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Optic atrophy, Retinal degeneration, Neurodegeneration, Rod-cone... ORPHA:391428
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency OMIM:610773
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Congenital Alpha2-Antiplasmin Deficiency
Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... ORPHA:79
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Purpura, Pulmonary embolism OMIM:614514
Adult Acute Respiratory Distress Syndrome
Shock, Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary edema, Vasculitis, Pulmonary inf... ORPHA:70578
Scheie Syndrome
Retinal degeneration OMIM:607016
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormality of visua... OMIM:601152
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... ORPHA:95430
Pulmonary Hypertension, Primary, 3
Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... OMIM:615343
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Ground-glass opacification, Cough, Pulmonary infiltrate... ORPHA:99931
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Retinal degeneration, Rod-cone dystrophy, Attenuation of... OMIM:615986
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Retinal nonattachment, Shallow anterior chamber, Retinal fold, Persistent pupillary ... OMIM:221900
Iatrogenic Botulism
Mydriasis ORPHA:254509
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Neurodegeneration, Ne... OMIM:256600
Bardet-Biedl Syndrome 17
Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystroph... OMIM:615994
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Reduced visual acuity, Retinal atrophy OMIM:616722
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of somatosensory evoked poten... ORPHA:52368
Norrie Disease
Optic atrophy, Retinal fold, Shallow anterior chamber, Retinal dysplasia, Hypoplasia of the iris,... OMIM:310600
Wound Botulism
Mydriasis ORPHA:178475
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Reduced visual acuity, Rod-cone dystrophy OMIM:615434
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Inhalational Botulism
Mydriasis ORPHA:254504
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Visual impairment, Vitritis OMIM:605808
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Hypoxemia, Systolic heart murmur, Bidirectional shunt, Tricuspid regur... ORPHA:439
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Retinal degeneration, Visual field defect, Rod-cone dystrophy, Nyctalopia, Abnormality of pattern... ORPHA:166035
Nipah Virus Disease
Recurrent pharyngitis, Respiratory distress, Cough, Hypotension ORPHA:99825
Phacoanaphylactic Uveitis
Conjunctival hyperemia, Hypopyon, Cystoid macular edema, Posterior synechiae of the anterior cham... ORPHA:209959
Paget Disease Of Bone 5, Juvenile-Onset
Retinal degeneration, Hydroxyprolinemia, Hyperuricemia, Retinopathy, Hyperphosphatemia, Macular s... OMIM:239000
Ciliary Dyskinesia, Primary, 1
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent bronchitis, Chronic si... OMIM:244400
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Elevated circulating creatine kinase concentration, Reduced visual acuity, Retinal degeneration, ... OMIM:615249
Krabbe Disease
Optic atrophy, Abnormal flash visual evoked potentials, Neurodegeneration, Decreased nerve conduc... OMIM:245200
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction OMIM:618189
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials, Myopia ORPHA:2971
Botulism
Mydriasis ORPHA:1267
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:254875
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Ground-glass opacification, Coug... ORPHA:454836
Cone-Rod Dystrophy 6
Macular atrophy, Hemeralopia, Reduced visual acuity, Progressive night blindness, Peripheral visu... OMIM:601777
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Paroxysmal dyspnea, Stridor, Cyanosis, Congestive heart failure, Sev... ORPHA:444013
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Dyspnea, Arrhythmia ORPHA:871
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Right ventricular failure, Telangiectasia, Hypertension, Pulmo... OMIM:178600
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Cyanosis, Orthopnea, Reduced vital capacity, ... ORPHA:98913
Ciliary Dyskinesia, Primary, 2
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress, Immotile cilia, Recurrent re... OMIM:606763
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Optic atrophy, Ataxia, Tremor OMIM:300983
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
Aspergillosis
Sinusitis, Chronic pulmonary obstruction, Intracranial hemorrhage, Pneumonia, Bronchiectasis, Gro... ORPHA:1163
Foodborne Botulism
Mydriasis ORPHA:228371
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Absence Of The Pulmonary Artery
Hypocapnia, Reduced ejection fraction, Systolic heart murmur, Bronchiectasis, Atrial fibrillation... ORPHA:980
Niemann-Pick Disease, Type B
Dyspnea, Recurrent respiratory infections, Diffuse reticular or finely nodular infiltrations OMIM:607616
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema ORPHA:1164
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Broad-based gait, Tremor OMIM:619470
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Obstructive sleep apnea, Crackles, Cough, Reticular pattern on pulmonary HRCT, Decreased DLCO, Pu... OMIM:614742
Serotonin Syndrome
Mydriasis, Tremor ORPHA:43116
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Cerebral cortical atrophy, Macular degeneration ORPHA:404451
Anaplastic Thyroid Carcinoma
Neoplasm of the lung, Stridor, Cough, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:142
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Neonatal death, Pulmonary arterial hypertension, Cardiomyopathy, P... OMIM:619003
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
Infant Botulism
Mydriasis, Keratoconjunctivitis sicca ORPHA:178478
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials, Cerebral atrophy OMIM:609304
Malaria
Respiratory distress ORPHA:673
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Myopia, Cerebellar atrophy, Abnormality of visual evoked potentials, Hypermetropia... OMIM:616875
Joubert Syndrome 6
Blindness, Chorioretinal coloboma, Retinal degeneration OMIM:610688
Microspherophakia With Hernia
Retinal detachment, Microspherophakia, Superior lens subluxation OMIM:157150
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration, Abnormality of vision, Brain atrophy, Cerebral atrophy ORPHA:442835
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... ORPHA:98973
Familial Dilated Cardiomyopathy
Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, Palpitations, Reduced ejection... ORPHA:217607
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy ORPHA:26792
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Pulmonary infiltrates, Cough, Bronchiectasis OMIM:619468
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Lethargy OMIM:274270
Retinal Detachment
Retinal detachment OMIM:180050
Leukodystrophy, Hypomyelinating, 17
Respiratory distress OMIM:618006
Lymphangioleiomyomatosis
Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Gastrointestinal hemorrhage, Recurrent respi... ORPHA:538
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Anomalous pulmonary veno... ORPHA:99105
X-Linked Centronuclear Myopathy
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