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Gene: Pdgfb MGI:97528

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
platelet derived growth factor, B polypeptide
Synonyms:
PDGF-B,  Sis

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pdgfb mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Hepatomegaly, Abnormality of the liver ORPHA:1980
Meningioma
Lower limb muscle weakness, Papilledema, Urinary incontinence, Upper limb muscle weakness, Facial... ORPHA:2495
Dermatofibrosarcoma Protuberans
ORPHA:31112
Meningioma, Familial, Susceptibility To
OMIM:607174
Basal Ganglia Calcification, Idiopathic, 5
OMIM:615483

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy, Retinal degeneration OMIM:257970
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Retinal arteriolar constric... OMIM:249660
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Peripartum Cardiomyopathy
Myocarditis, Reduced left ventricular ejection fraction, Respiratory failure, Paroxysmal dyspnea,... ORPHA:563
Bardet-Biedl Syndrome 16
Stage 5 chronic kidney disease, Hypogonadism, Renal cyst, Renal insufficiency, Short stature, Ret... OMIM:615993
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Extramedullary hematopoiesis, Ventric... OMIM:617021
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Podocyte foot process effacement, Minimal change glomeru... OMIM:619201
Nephrotic Syndrome, Type 17
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Short stature, Focal segmenta... OMIM:618176
Oliver-Mcfarlane Syndrome
Delayed puberty, Severe short stature, Central heterochromia, Distal amyotrophy, Pigmentary retin... OMIM:275400
Coronary Arterial Fistula
Atrial septal defect, Bacterial endocarditis, Abnormal heart morphology, Angina pectoris, Patent ... ORPHA:2041
Coenzyme Q10 Deficiency, Primary, 6
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrolithiasis, Focal ... OMIM:614650
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Short stature, Retinal degeneration, Bone... OMIM:618889
Macular Degeneration, Age-Related, 13
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar OMIM:615439
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Nephrotic Syndrome, Type 3
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc... OMIM:610725
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Macular degeneration, Distal lower li... OMIM:619764
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Renal cortical hyperech... OMIM:619263
Nephrotic Syndrome, Type 18
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... OMIM:301028
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Focal Segmental Glomerulosclerosis 8
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis, Focal segmental glomeruloscler... OMIM:615573
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... OMIM:616002
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Homocarnosinosis
Carnosinuria, Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Nephrotic Syndrome, Type 12
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hematuria, Focal segmental glomerulo... OMIM:616892
Familial Dilated Cardiomyopathy
Dyspnea, Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ej... ORPHA:217607
Focal Segmental Glomerulosclerosis 10
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit... OMIM:256020
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Drusen, Peripheral retinal atrophy OMIM:136550
Focal Segmental Glomerulosclerosis 2
Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrotic syndrome, Focal se... OMIM:603965
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration, Leukopenia, Anemia, Respiratory insufficiency, Pancreatitis, Renal insufficiency, Ca... ORPHA:27
Galloway-Mowat Syndrome 4
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hypermelanotic macule, ... OMIM:617730
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... ORPHA:59181
Nephronophthisis
Renal insufficiency, Abnormality of retinal pigmentation ORPHA:655
Focal Segmental Glomerulosclerosis 6
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... OMIM:614131
Atrial Septal Defect, Sinus Venosus Type
Stroke, Paradoxical splitting of the second heart sound, Tricuspid regurgitation, Supraventricula... ORPHA:99105
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Hypogonadism, Renal cyst, Retinal degeneration, Rod-cone dystrophy OMIM:615982
Primary Membranoproliferative Glomerulonephritis
Microscopic hematuria, Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic ... ORPHA:54370
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... OMIM:605670
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Glycosuria, Beta 2-microglobulinu... OMIM:308990
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal lower limb amyotrophy, Claw hand deformity, Proteinuria, Stage 5 chronic kidney disease, D... OMIM:614455
Nephrotic Syndrome, Type 21
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Podocyte foot process effac... OMIM:618594
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Choroidal Dystrophy, Central Areolar, 1
Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy OMIM:215500
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney di... OMIM:613237
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Stroke, Megaloblastic anemia, Ventricular septal defect, Atrial septal defect, Th... ORPHA:49827
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Nephrotic Syndrome, Type 14
Proteinuria, Diffuse mesangial sclerosis, Micropenis, Stage 5 chronic kidney disease, Hypogonadis... OMIM:617575
Diamond-Blackfan Anemia 6
Tracheomalacia, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, Tetralogy ... OMIM:612561
Senior-Loken Syndrome 7
Nephronophthisis, Retinal degeneration OMIM:613615
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria OMIM:607832
Lipoprotein Glomerulopathy
Renal insufficiency, Proteinuria, Glomerulopathy, Mesangial hypercellularity OMIM:611771
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Nephrotic Syndrome, Type 11
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, ... OMIM:616730
Macular Dystrophy, Vitelliform, 2
Subretinal fluid, Macular dystrophy, Cystoid macular degeneration OMIM:153700
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Retinal degene... ORPHA:85128
Senior-Loken Syndrome
Premature ovarian insufficiency, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrono... ORPHA:3156
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Idiopathic Steroid-Resistant Nephrotic Syndrome
Proteinuria, Acute kidney injury, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Fo... ORPHA:567548
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Papillorenal Syndrome
Horseshoe kidney, Gliosis, Multicystic kidney dysplasia, Proteinuria, Chronic kidney disease, Mac... OMIM:120330
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:620049
Refractory Anemia
Dyspnea, Normocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate productio... ORPHA:98826
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Dyspnea, Syncope, Palpitations, Elevated jugular venous pressure... ORPHA:422
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins... OMIM:310468
Genetic Steroid-Resistant Nephrotic Syndrome
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic kidney disease,... ORPHA:656
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
Galloway-Mowat Syndrome 7
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, ... OMIM:618348
Pierson Syndrome
Proteinuria, Retinal vascular tortuosity, Hypopigmentation of the fundus, Diffuse mesangial scler... OMIM:609049
Nanophthalmos
Abnormal choroid morphology, Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
C3 Glomerulopathy
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrot... ORPHA:329918
Nephrotic Syndrome, Type 1
Proteinuria, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insufficiency, Glomerular ... OMIM:256300
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation ORPHA:1852
Nephrotic Syndrome, Type 8
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic kidney disease,... OMIM:615244
Alport Syndrome
Glomerular basement membrane lamellation, Mesangial hypercellularity, Proteinuria, Renal tubular ... ORPHA:63
Nephrotic Syndrome, Type 2
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:600995
Retinitis Pigmentosa 31
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy OMIM:609923
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Growth delay, Retinal degeneration OMIM:614322
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Nephronophthisis 15
Nephronophthisis, Retinal degeneration OMIM:614845
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... ORPHA:75377
Atrial Septal Defect, Ostium Primum Type
Tricuspid regurgitation, Atrial fibrillation, Exertional dyspnea, Pulmonary artery dilatation, Pu... ORPHA:99106
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Edema, Atrial septal defect, Hydrops feta... ORPHA:90308
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:617572
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... OMIM:609913
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:180210
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Ventricular septal defect, Atrial septal defect, Arrhythmia, Card... OMIM:249270
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
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
Nephronophthisis 13
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea... OMIM:614377
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Abnormal macular morphology, Choroi... ORPHA:97341
Galloway-Mowat Syndrome 10
Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Cone-Rod Dystrophy 22
Hyperautofluorescent macular lesion, Perifoveal ring of hyperautofluorescence, Hypoautofluorescen... OMIM:619531
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Nephrotic syndrome, Hypergonadotropic hypogonadism, Glomerular sclerosis, Decreased ... OMIM:607426
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Stage 5 chronic kidney disease, Intrauterine growth retardation, Short stature, Neph... OMIM:301006
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Galloway-Mowat Syndrome 8
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... OMIM:618349
Maternally-Inherited Diabetes And Deafness
Proteinuria, Glomerulopathy, Renal insufficiency, Macular dystrophy, Retinopathy, Abnormal chorio... ORPHA:225
Morm Syndrome
Retinal dystrophy, Abnormality of the kidney, Micropenis, Retinal atrophy ORPHA:75858
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis, Retinal degeneration OMIM:614844
Eisenmenger Syndrome
Stroke, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Bacterial endocardi... ORPHA:97214
Choroideremia
Hypopigmentation of the fundus, Granular macular appearance, Choroideremia, Pigmentary retinopath... OMIM:303100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Short stature, Microphthalmia, Ab... OMIM:251270
Senior-Loken Syndrome 8
Global glomerulosclerosis, Macular atrophy, Stage 5 chronic kidney disease, Nephronophthisis, Glo... OMIM:616307
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rhizomelia, Disproportionate short-trunk short stature, Short stature, R... OMIM:602271
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy, Primary amenorrhea OMIM:616947
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Microphthalmia, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Triosephosphate Isomerase Deficiency
Jaundice, Normocytic anemia, Hemolytic anemia, Myopathy, Respiratory insufficiency, Respiratory i... OMIM:615512
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperechogenic kidneys, Proteinuria, Renal tubular atrophy, Chronic kidney disease, Tubulointerst... OMIM:613092
Atrial Septal Defect, Ostium Secundum Type
Stroke, Abnormal mitral valve morphology, Tricuspid regurgitation, Supraventricular arrhythmia, T... ORPHA:99103
Bardet-Biedl Syndrome 21
Hypoplasia of the fovea, Retinal atrophy, Cone/cone-rod dystrophy, Horseshoe kidney, Hyperautoflu... OMIM:617406
Nephrotic Syndrome, Type 6
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... OMIM:614196
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Pigment gallstones, Hypochromic anemia, Cholesta... ORPHA:232
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Glomerulopathy With Fibronectin Deposits 2
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephroti... OMIM:601894
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Formiminoglutamic Aciduria
Atrial septal defect, Anemia, Megaloblastic anemia, Abnormal concentration of acylcarnitine in th... ORPHA:51208
Galloway-Mowat Syndrome 1
Proteinuria, Camptodactyly, Diffuse mesangial sclerosis, Renal insufficiency, Focal segmental glo... OMIM:251300
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Tetralogy of Fallot, Horseshoe kidney, Ventricular septal defect, ... OMIM:612562
Glomerulopathy With Fibronectin Deposits 1
Microscopic hematuria, Proteinuria, Glomerulopathy, Stage 5 chronic kidney disease, Renal insuffi... OMIM:137950
Retinitis Pigmentosa 70
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:615922
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy, Abnormality of retinal pigmentation ORPHA:2579
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Uraciluria, Microphthalmia, Growth delay OMIM:274270
Galloway-Mowat Syndrome 5
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... OMIM:617731
Birk-Aharoni Syndrome
Muscular ventricular septal defect, Micropenis, Macrocytic anemia OMIM:620071
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Edema, Hemolytic anemia, Incre... ORPHA:3202
Atrial Fibrillation, Familial, 10
Stroke, Paroxysmal atrial fibrillation, Left atrial enlargement, Left ventricular hypertrophy, Tr... OMIM:614022
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Nail-Patella-Like Renal Disease
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Short stature ORPHA:2613
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Ventricular septal defect, Hypoplastic aortic arch, Left ven... ORPHA:860
Focal Segmental Glomerulosclerosis 1
Hyperechogenic kidneys, Proteinuria, Stage 5 chronic kidney disease, Reduced renal corticomedulla... OMIM:603278
Diamond-Blackfan Anemia 1
Small thenar eminence, Coarctation of aorta, Ventricular septal defect, Atrial septal defect, Per... OMIM:105650
Transaldolase Deficiency
Hepatosplenomegaly, Coarctation of aorta, Abnormal respiratory system physiology, Edema, Atrial s... ORPHA:101028
Wagner Vitreoretinopathy
Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, Exudative ... OMIM:143200
Cednik Syndrome
Proteinuria, Hypogonadism, Short stature, Nephrotic syndrome, Optic atrophy ORPHA:66631
Babesiosis
Jaundice, Leukopenia, Hemolytic anemia, Respiratory insufficiency, Cough, Renal insufficiency, He... ORPHA:108
Spinal Muscular Atrophy, Type I
Death in childhood, Proximal muscle weakness in lower limbs, Proximal amyotrophy, Spinal muscular... OMIM:253300
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Nephropathy, Abnormality of retinal pigmentation, Macular coloboma, Nephrolithiasis, Chorioretina... ORPHA:2196
Cofs Syndrome
Camptodactyly of finger, Hypogonadism, Intrauterine growth retardation, Short stature, Microphtha... ORPHA:1466
Anti-Glomerular Basement Membrane Disease
Proteinuria, Glomerulopathy, Renal insufficiency, Retinal detachment, Hematuria ORPHA:375
Combined Oxidative Phosphorylation Deficiency 24
Myopathy, Weakness of facial musculature, Skeletal muscle atrophy, Focal segmental glomeruloscler... OMIM:616239
Cone-Rod Dystrophy 11
Macular atrophy, Macular degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:610381
Fixed Subaortic Stenosis
Ventricular septal defect, Bacterial endocarditis, Left ventricular outflow tract obstruction, At... ORPHA:3092
Microphthalmia, Isolated 5
Foveoschisis, Optic disc pallor, Cystoid macular edema, Microphthalmia, Bone spicule pigmentation... OMIM:611040
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:610359
Galloway-Mowat Syndrome 6
Proteinuria, Intrauterine growth retardation, Short stature, Nephrotic syndrome, Growth delay, Fo... OMIM:618347
Ceroid Lipofuscinosis, Neuronal, 1
Flexion contracture, Macular degeneration, Optic atrophy, Retinal degeneration OMIM:256730
Usher Syndrome, Type Iv
Retinal degeneration, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retin... OMIM:618144
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Wolff-Parkinson-White syndrome, Tricuspid ... OMIM:619705
Spastic Paraplegia 11, Autosomal Recessive
Lower limb muscle weakness, Urinary incontinence, Macular degeneration, Urinary bladder sphincter... OMIM:604360
Cat-Eye Syndrome
Hydronephrosis, Renal hypoplasia/aplasia, Intrauterine growth retardation, Microphthalmia, Short ... ORPHA:195
Wolfram Syndrome 1
Hydronephrosis, Neurogenic bladder, Megaloblastic anemia, Hydroureter, Cardiomyopathy, Sideroblas... OMIM:222300
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Nephropathy, Severe short stature ORPHA:2820
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Megaloblastic anemia, Hydroureter, Sideroblastic anemia, Thrombocytopenia, Neutro... OMIM:598500
Diamond-Blackfan Anemia
Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Pure red cell aplasia, Reticul... ORPHA:124
Retinitis Pigmentosa 4
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:613731
Galactosemia I
Premature ovarian insufficiency, Galactosuria, Albuminuria, Hypergonadotropic hypogonadism, Amino... OMIM:230400
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy, Myopathy OMIM:551500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Restrictive ventilatory defect, Type 1 muscle fiber predominance, Muscula... OMIM:253700
Ceroid Lipofuscinosis, Neuronal, 3
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:204200
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Takayasu Arteritis
Vasculitis, Pulmonary arterial hypertension, Anemia, Hypertension, Abnormal heart valve morpholog... ORPHA:3287
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Microphthalmia, Chorioretinal coloboma, Hematuria, Optic atrophy ORPHA:1473
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Death in childhood, Hydrops fetalis, Hepatomegaly, Nephrotic syndrome, Co... OMIM:269920
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Death in infancy, Splenomegaly, Macrocytic anemia OMIM:619046
Preeclampsia/Eclampsia 1
Proteinuria, Edema, Hypertension, Elevated hepatic transaminase, Thrombocytopenia OMIM:189800
Nephrotic Syndrome, Type 7
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic-uremic syndrome, Thic... OMIM:615008
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal atrophy OMIM:615725
Retinitis Pigmentosa 11
Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... OMIM:600138
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Hyperthreoninuria, Fundus atrophy, Attenuation of retinal blood vessels, ... OMIM:204000
Familial Atrial Myxoma
Jaundice, Heart murmur, Bacterial endocarditis, Pulmonic valve myxoma, Cholestasis, Tricuspid reg... ORPHA:615
Retinitis Pigmentosa 73
Peripapillary atrophy, Retinal atrophy, Epiretinal membrane, Optic disc pallor, Bone spicule pigm... OMIM:616544
Cone-Rod Dystrophy 5
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy OMIM:600977
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Cardiomyopathy, Familial Hypertrophic, 15
Pulmonary arterial hypertension, Cardiomyocyte hypertrophy, Apical hypertrophic cardiomyopathy, L... OMIM:613255
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Abnormality of the liver, Hypertension, Macrocytic anemia, Increased m... ORPHA:2169
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercel... OMIM:616818
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Chorioretinal coloboma, Hematuria, Microphthalmia OMIM:120433
Atrial Septal Defect, Coronary Sinus Type
Stroke, Supraventricular arrhythmia, Transient ischemic attack, Bundle branch block, Exertional d... ORPHA:99104
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Galloway-Mowat Syndrome 3
Proteinuria, Camptodactyly, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Intraute... OMIM:617729
Cardiomyopathy, Dilated, 1M
Reduced left ventricular ejection fraction, Impaired myocardial contractility, Congestive heart f... OMIM:607482
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Megaloblastic anemia, Hepatomegaly, Increased mean corpuscular volume, Thrombocytopenia... OMIM:613839
Achromatopsia
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Retina... ORPHA:49382
Frasier Syndrome
Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Nephrotic syndrome, Focal segmen... OMIM:136680
Diamond-Blackfan Anemia 5
Leukopenia, Ventricular septal defect, Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia... OMIM:612528
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Hyperprolinemia Type 1
Proteinuria, Nephropathy, Prolinuria ORPHA:419
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Atri... OMIM:610198
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... OMIM:611555
Joubert Syndrome 22
Intrauterine growth retardation, Renal hypoplasia, Microphthalmia, Retinal dysplasia OMIM:615665
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... OMIM:617780
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, Abnormality of neut... ORPHA:86841
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Glomerulonephritis, Dyspnea, Diffuse alveolar hemorrhage, Restrictive ventila... ORPHA:99931
Retinitis Pigmentosa 13
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... OMIM:600059
Diamond-Blackfan Anemia 10
Ventricular septal defect, Ectopic kidney, Anemia, Reticulocytopenia, Macrocytic anemia, Steroid-... OMIM:613309
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy, Microphthalmia, Retinal dysplasia OMIM:614830
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Optic disc pallor, Intrauterine growth retardation, Microphthalmia, Short statur... OMIM:616171
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Vascular dil... OMIM:600884
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic erythroid hype... OMIM:261000
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... OMIM:617871
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Increased urine succinate level, Elevated circulating aspartate aminotransferase concentration, L... OMIM:619048
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Cardiomyopathy, Dilated, 1Ff
Death in middle age, Severely reduced left ventricular ejection fraction, Congestive heart failur... OMIM:613286
Combined Oxidative Phosphorylation Deficiency 18
Hypersegmentation of neutrophil nuclei, Skeletal muscle atrophy, Methylmalonic aciduria, Macrocyt... OMIM:615578
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Abnormal cardiac septum morphology, Thrombocytopenia, Anemia ORPHA:3319
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Anemia, Elevated hepatic transaminase, Hepatomegaly, Macrocytic anemia, He... OMIM:615438
Pyknoachondrogenesis
Stillbirth OMIM:265880
Congenital Myopathy 8
Respiratory insufficiency, Type 1 muscle fiber predominance, Weakness of facial musculature, Musc... OMIM:618654
Bardet-Biedl Syndrome 9
Renal insufficiency, Retinal degeneration, Irregular menstruation, Bone spicule pigmentation of t... OMIM:615986
Loeffler Endocarditis
Dyspnea, Mitral regurgitation, Left ventricular hypertrophy, Palpitations, Aortic regurgitation, ... ORPHA:75566
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
Frasier Syndrome
Proteinuria, Glomerulopathy, Primary amenorrhea, Renal insufficiency, Nephrotic syndrome, Hypergo... ORPHA:347
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... OMIM:305390
Sandhoff Disease
Cherry red spot of the macula, Congestive heart failure, Hepatomegaly, Splenomegaly ORPHA:796
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Short stature, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Ret... OMIM:616108
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Pigmentary retinopathy OMIM:266130
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Thrombocytopenia, Epis... OMIM:616216
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Abnormal retinal vascular morphology, Weakness of facial musculature, Nephropathy, G... ORPHA:247691
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Retinopathy, Gliosis OMIM:615119
Hemochromatosis, Type 2B
Anemia, Cardiomyopathy, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis,... OMIM:613313
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Aortic aneurysm, Left ventricular outflow tract obstruction, Ventricular sep... OMIM:614980
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Camptodactyly, Death in adolescence, Neonatal death, Stillbirth,... OMIM:619751
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... ORPHA:75564
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Growth delay, Hypospadias OMIM:619428
Retinitis Pigmentosa 30
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:607921
Glutamate Formiminotransferase Deficiency
Elevated urinary formiminoglutamic acid level, Hypersegmentation of neutrophil nuclei, Megaloblas... OMIM:229100
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis OMIM:613944
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy, Growth delay OMIM:617613
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myopathy, Restrictive ventilatory defect, Muscular dystrophy, Muscle fiber atrophy, Hepatomegaly,... ORPHA:369840
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Moderately short stature, Hyporeflective spaces on macular O... ORPHA:506353
Bardet-Biedl Syndrome 17
Macular atrophy, Micropenis, Stage 5 chronic kidney disease, Cone/cone-rod dystrophy, Renal cyst,... OMIM:615994
Familial Exudative Vitreoretinopathy
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Rhegmatog... ORPHA:891
Retinitis Pigmentosa 90
Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess... OMIM:619007
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Type 1 muscle fiber predominance, Hypertrophic cardiomyopathy, Exertional dyspnea, Proximal amyot... OMIM:255160
Cardiomyopathy, Dilated, 2A
Cardiomyocyte hypertrophy, Myofiber disarray, Congestive heart failure, Increased left ventricula... OMIM:611880
Niemann-Pick Disease, Type B
Dyspnea, Foam cells with lamellar inclusion bodies, Bone-marrow foam cells, Anemia, Decreased DLC... OMIM:607616
Glycogen Storage Disease Ia
Delayed puberty, Proteinuria, Decreased glomerular filtration rate, Enlarged kidney, Decreased mu... OMIM:232200
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613582
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary norepinephrine,... ORPHA:276621
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Reduced left ventricular ejection fraction, Death in infancy, Neonatal death,... OMIM:614096
Cardiac Lipidosis, Familial
Cardiomyopathy, Death in infancy, Congestive heart failure OMIM:212080
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... OMIM:604765
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Proteinuria, Podocyte foot process effacement, Nephrotic syndrome OMIM:617006
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Shoulder girdle muscle weakness, Autophagic vacuoles, Res... ORPHA:266
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in childhood, Stroke, Death in infancy, Elevated hepatic transaminase, Cerebral edema, Dica... OMIM:611126
Familial Aortic Dissection
Stroke, Descending aortic dissection, Aortic root aneurysm, Mucoid extracellular matrix accumulat... ORPHA:229
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... OMIM:616689
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Webbed neck, Ventricular septal defect, Polysplenia, Coronary artery fistula, Macro... OMIM:614294
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Respiratory distress,... OMIM:613642
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 chr... OMIM:617609
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Primary amenorrhea, Optic atrophy, Gliosis, Secondary amenorrhea OMIM:603896
Macular Degeneration, Age-Related, 3
Distal amyotrophy, Macular degeneration, Drusen, Choroidal neovascularization OMIM:608895
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Short stature OMIM:619090
Bietti Crystalline Dystrophy
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... ORPHA:41751
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Intrauterine growth retardation, Nephropathy, Short stature, ... OMIM:617056
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Hyperechogenic kidneys, Proteinuria, Micropenis, Stage 5 chro... OMIM:619487
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Presyncope, Left bundle... OMIM:618920
Snakebite Envenomation
Rhabdomyolysis, Stroke, Acute kidney injury, Hypotension, Edema, Angioedema, Cardiogenic shock, I... ORPHA:449285
Cardiomyopathy, Dilated, 1L
Reduced left ventricular ejection fraction, Sudden cardiac death, Reduced systolic function, Cong... OMIM:606685
Imerslund-Gräsbeck Syndrome
Proteinuria, Abnormal hemoglobin concentration, Reticulocytosis, Anisopoikilocytosis, Megaloblast... ORPHA:35858
Chromosome 6Q24-Q25 Deletion Syndrome
Dysplastic tricuspid valve, Dysplastic pulmonary valve, Atrial septal defect, Tricuspid regurgita... OMIM:612863
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria, Megaloblastic anemia OMIM:261100
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Bone sp... OMIM:614500
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Non-Involuting Congenital Hemangioma
Peripheral arteriovenous fistula, Hepatic hemangioma, Thrombocytopenia, Congestive heart failure,... ORPHA:141179
Idiopathic Non-Lupus Full-House Nephropathy
Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Glomerular C3 deposi... ORPHA:567544
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... OMIM:300946
Congenital Myopathy 14
Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contracture, Polyh... OMIM:618414
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Abnormal T-wave, Myeloproliferative disorder, Reduced FEV1/FVC r... ORPHA:70591
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Endocardial fibroelastosis, Congestive heart failure, Hypoplasia of p... ORPHA:2022
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Rh Deficiency Syndrome
Hepatosplenomegaly, Anisocytosis, Miscarriage, Tachypnea, Reticulocytosis, Jaundice, Hemolytic an... ORPHA:71275
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Peripheral vitreous opacities, Optic nerve hypoplasia, Unilateral micropht... ORPHA:137902
Attrv122I Amyloidosis
Stroke, Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, A... ORPHA:85451
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Stroke, Dehydration, Anemia, Pancreatitis, Renal insufficiency, Cardiomyopathy, Hepatomegaly, Res... ORPHA:79312
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Renal cell carcinoma, Elevated urinary epinephrine, Glomerular sclerosis, Elevated u... ORPHA:29072
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Calf muscle hypertrophy, Cardiomyopathy, EMG: myopathic abnormalities, Scapular winging, Increase... OMIM:608099
Spastic Paraplegia 15, Autosomal Recessive
Lower limb muscle weakness, Distal amyotrophy, Urinary incontinence, Macular degeneration, Urinar... OMIM:270700
Peroxisome Biogenesis Disorder 1A (Zellweger)
Renal cortical microcysts, Hydronephrosis, Macroglossia, Brushfield spots, Pigmentary retinopathy... OMIM:214100
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Bone spicule pigment... OMIM:613750
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Butyrylcholinesterase Deficiency
Abnormality of the liver, Congestive heart failure, Respiratory failure, Respiratory failure requ... ORPHA:132
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Dextrocardia, Megaloblastic anemia, Atrial septal defect, Anemia, Hepatomegaly, Methylmalonic aci... OMIM:277380
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Galloway-Mowat Syndrome 9
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis OMIM:619603
Diamond-Blackfan Anemia 12
Ventricular septal defect, Reticulocytopenia, Macrocytic anemia, Normochromic anemia, Elevated re... OMIM:615550
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Stroke, Reduced left ventricular ejection fraction, Hepatomegaly, Ventricular hyp... OMIM:115197
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Re... OMIM:616188
Rapidly Involuting Congenital Hemangioma
Peripheral arteriovenous fistula, Hepatic hemangioma, Thrombocytopenia, Congestive heart failure,... ORPHA:141184
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:601718
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Unilateral renal agenesis, Methylmalonic aciduria, Abnormal heart morpholog... ORPHA:79284
Microcephaly-Cardiomyopathy Syndrome
Intrauterine growth retardation, Short stature, Abnormality of retinal pigmentation ORPHA:2515
Jeune Syndrome
Renal insufficiency, Nephropathy, Short stature, Nephronophthisis, Abnormality of retinal pigment... ORPHA:474
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Methylmalonic aciduria, Megaloblastic anemia, Homocystinuria OMIM:236270
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Chronic pulmonary obstructio... ORPHA:2414
Congenital Gerbode Defect
Elevated right atrial pressure, Ventricular septal defect, Bacterial endocarditis, Perimembranous... ORPHA:99095
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hypogonadism, Macular degeneration,... OMIM:616629
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Camptodactyly of finger, Arrhythmia, Hepatomegaly, Death in ... ORPHA:1194
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Congenital Muscular Dystrophy With Intellectual Disability
Limb-girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Micropenis, Pigmentary reti... ORPHA:370968
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Chronic kidney disease, Abnor... ORPHA:730
Retinitis Pigmentosa 62
Optic disc pallor, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:614181
Reticular Dystrophy Of Retinal Pigment Epithelium
Pigmentary retinopathy, Abnormality of retinal pigmentation OMIM:179840
Nephronophthisis 11
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... OMIM:613550
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Hypogonadism, Retinal degeneration OMIM:615981
Ethanolaminosis
Cardiomegaly, Death in infancy OMIM:227150
Hemoglobin E Disease
Miscarriage, Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volu... ORPHA:2133
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia, Homocystinuria OMIM:250940
Retinitis Pigmentosa 38
Macular atrophy, Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy OMIM:613862
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Hepatomegaly, Elevated hepatic transaminase, Re... OMIM:613561
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Macular dystrophy, Drusen, Choroidal neovascul... OMIM:608161
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Carnitine Deficiency, Systemic Primary
Dehydration, Mitral regurgitation, Elevated circulating aspartate aminotransferase concentration,... OMIM:212140
Retinitis Pigmentosa 54
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin... OMIM:613428
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Enlarged kidney, Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopa... OMIM:617303
Fabry Disease
Proteinuria, Left ventricular hypertrophy, Anemia, Arrhythmia, Renal insufficiency, Hypertension,... OMIM:301500
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Hypopigmented skin patches, Abnormal retinal vascular morphology, Re... ORPHA:2715
Laurence-Moon Syndrome
Short stature, Pigmentary retinopathy, Chorioretinal atrophy, Micropenis OMIM:245800
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... OMIM:601493
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Micropenis, Hemolytic anemia, Hydrops fetalis,... OMIM:613673
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614376
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal heart valve morphology, Ventr... ORPHA:3400
Macular Degeneration, Age-Related, 1
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... OMIM:603075
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis OMIM:161900
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Chorioretinal coloboma, Optic pit, Microphthalmia OMIM:616428
Cardiomyopathy, Dilated, 1Ee
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Congestive heart failure... OMIM:613252
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Gliosis, L-2-hydroxyglutaric aciduria OMIM:236792
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Hepatocellular carcinoma, Pulmonary arterial hypertension, Jaundice, Leukocyt... ORPHA:231222
Distal 16P11.2 Microdeletion Syndrome
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Renal agenesis, Vesicoureteral re... ORPHA:261222
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Fetal Parvovirus Syndrome
Increased nuchal translucency, Anemia, Hydrops fetalis, Thrombocytopenia, Hypertrophic cardiomyop... ORPHA:295
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Central sleep apnea, Abnormal heart morphology, Obstructive sleep apnea, Congestive heart failure... ORPHA:70472
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Renal insufficiency, Intrauterine growth retardation, Retinal de... ORPHA:96179
Alg9-Cdg
Hydronephrosis, Torticollis, Enlarged kidney, Ventricular septal defect, Atrial septal defect, Hy... ORPHA:79328
Diamond-Blackfan Anemia 4
Atrial septal defect, Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia, Neutropenia OMIM:612527
Hemimegalencephaly
Optic atrophy, Gliosis ORPHA:99802
Atrial Standstill
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... ORPHA:1344
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Renal cyst, Myopathy, Polyhydramnios, Renal insufficiency, Cardiomyopathy, He... OMIM:614922
Retinitis Pigmentosa 88
Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ... OMIM:618826
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Membranoproliferative glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:613913
Pseudo-Torch Syndrome 3
Proteinuria, Acute kidney injury, Leukocytosis, Cerebral hemorrhage, Anemia, Respiratory insuffic... OMIM:618886
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Aortic Aneurysm, Familial Thoracic 4
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... OMIM:132900
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Lipodystrophy, Partial, Acquired, Susceptibility To
Proteinuria, Membranoproliferative glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:608709
Retinitis Pigmentosa
Hypogonadism, Abnormal retinal vascular morphology, Hypoplasia of penis, Abnormality of retinal p... ORPHA:791
Hb Bart'S Hydrops Fetalis
Hydrops fetalis, Anemia, Polyhydramnios, Abnormal hemoglobin, Hepatomegaly, Congestive heart fail... ORPHA:163596
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... OMIM:613172
Retinitis Pigmentosa 80
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:617781
Avian Influenza
Rhabdomyolysis, Miscarriage, Acute kidney injury, Dyspnea, Leukopenia, Tachypnea, Cough, Producti... ORPHA:454836
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Right ventricular dilatation, Left bundle branch block, First degree atr... OMIM:615616
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Restrictive ventilatory defect, Limb-girdle muscular dystrophy, Right ventricular dilatation, Myo... ORPHA:369847
Hydrops Fetalis, Nonimmune
Nonimmune hydrops fetalis, Anemia, Congestive heart failure, Hydrops fetalis OMIM:236750
Achromatopsia 7
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy OMIM:616517
Hemochromatosis, Type 2A
Arrhythmia, Cardiomyopathy, Hepatomegaly, Cirrhosis, Azoospermia, Congestive heart failure, Dilat... OMIM:602390
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... OMIM:615396
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619386
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias OMIM:620044
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Congenital muscular dystrophy, Microphthalmia, Retinal dysplasia ORPHA:324416
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular edema OMIM:180104
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hydrops fetalis, Hepatomegaly, Anemi... OMIM:224120
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Coarctation of aorta, Atrial septal defect, Methylmalonic acidur... OMIM:614857
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... OMIM:613694
Transaldolase Deficiency
Hepatosplenomegaly, Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Anemia... OMIM:606003
Thrombotic Thrombocytopenic Purpura
Stroke, Proteinuria, Acute kidney injury, Reticulocytosis, Microangiopathic hemolytic anemia, Dys... ORPHA:54057
Retinitis Pigmentosa 76
Peripapillary atrophy, Hyperautofluorescent macular lesion, Cystoid macular edema, Retinal thinni... OMIM:617123
Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Myopathy, Exercise-induced myoglobinuria, Renal insufficiency, Retinal dystrophy OMIM:300653
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Proteinuria, Retinal detachment, Retinal dystrophy ORPHA:2143
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Morbid Obesity And Spermatogenic Failure
Hypertension, Premature coronary artery atherosclerosis, Azoospermia, Congestive heart failure, H... OMIM:615703
Idiopathic Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Dyspnea, Abnormal jugular vein morphology, Syncope, Palpitations... ORPHA:275766
Cardiomyopathy, Dilated, 1Bb
Dyspnea, Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestiv... OMIM:612877
Shwachman-Diamond Syndrome
Hepatomegaly, Macrocytic anemia, Abnormal heart morphology, Acute myeloid leukemia, Pancreatic hy... ORPHA:811
Dent Disease
Proteinuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal phosphate was... ORPHA:1652
Overhydrated Hereditary Stomatocytosis
Jaundice, Reticulocytosis, Hemolytic anemia, Pulmonary embolism, Hepatomegaly, Prolonged neonatal... OMIM:185000
Acquired Partial Lipodystrophy
Microscopic hematuria, Proteinuria, Glomerulopathy, Myopathy ORPHA:79087
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Nonimmune hydrops fetalis, Myopathy, Respiratory insufficiency, Polyhydramnio... ORPHA:367
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Optic disc pallor, Perifoveal ring of hyperautofluorescence... OMIM:620102
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:609909
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy ORPHA:217622
Foveal Hypoplasia 2
Hypoplasia of the fovea, Optic nerve misrouting, Foveal hyperpigmentation, Microphthalmia OMIM:609218
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stroke, Pulmonary arterial hypertension, Dehydration, Jaundice, Megaloblastic anemia, Hemolytic-u... ORPHA:79282
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis OMIM:161950
Arterial Calcification, Generalized, Of Infancy, 2
Coronary artery calcification, Mitral regurgitation, Nephrocalcinosis, Reduced left ventricular e... OMIM:614473
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Craniofaciofrontodigital Syndrome
Stroke, Ventricular septal defect, Atrial septal defect, Persistent fetal circulation, Pulmonary ... ORPHA:363705
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria, Growth delay, Retinopathy, Proportionate short stature OMIM:619269
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Retinitis Pigmentosa 51
Abnormality of the kidney, Macular degeneration, Bone spicule pigmentation of the retina, Attenua... OMIM:613464
Multiple Acyl-Coa Dehydrogenase Deficiency
Polycystic kidney dysplasia, Cardiomyopathy, Hepatomegaly, Abnormal heart morphology, Acute pancr... ORPHA:26791
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Megaloblastic anemia, Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, ... ORPHA:2575
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Glycosuria, Moderate albuminuria, Intrauterine growth retarda... ORPHA:99885
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Death in infancy, Apnea, Respiratory failure, Hypertrophic cardiomyopa... OMIM:616277
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Death in childhood, Proteinuria, Glycosuria, Anemia, Renal Fanconi syndrome, Weakness of facial m... OMIM:220110
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Ventricular septal defect, Increased mean corpuscular volume, Thrombocytope... ORPHA:261250
Anemia, Sideroblastic, 1
Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate production, Macrocytic ... OMIM:300751
Refsum Disease, Classic
Limb muscle weakness, Abnormal renal physiology, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Fibronectin Glomerulopathy
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abno... ORPHA:84090
Dominant Beta-Thalassemia
Hepatosplenomegaly, Anisocytosis, Hepatocellular carcinoma, Dyspnea, Jaundice, High-output conges... ORPHA:231226
Cardiomyopathy, Dilated, 1Hh
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy OMIM:613881
Beta-Thalassemia Major
Hepatomegaly, Hepatosplenomegaly, Dyspnea, High-output congestive heart failure, Decreased mean c... ORPHA:231214
Microphthalmia, Isolated 6
Retinal fold, Microphthalmia OMIM:613517
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Elevated hepatic transaminase, Increased m... ORPHA:98870
Leber Congenital Amaurosis 9
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... OMIM:608553
Autosomal Recessive Spastic Paraplegia Type 15
Leg muscle stiffness, Distal amyotrophy, Functional abnormality of the bladder, Pigmentary retino... ORPHA:100996
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Myopathy, Arrhythmia, Hypertension,... OMIM:540000
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Congestive heart failure, Respiratory failure, Ragged-red muscle fibers OMIM:616794
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Death in adolescence, Respiratory insuff... OMIM:300717
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Microscopic hematuria, Stage 5 chronic kidney disease, Chronic kidney disease, Macroscopic hematu... ORPHA:567546
Sjogren-Larsson Syndrome
Macular degeneration, Short stature, Retinal thinning, Macular dots, Macular crystals, Retinal pi... OMIM:270200
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, ... OMIM:204100
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Anemia, Perimembranous ventricular septal defect, Oligohydramnios, Hypertro... OMIM:620135
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Abnormality of the shoulder girdle musculature, Absent muscle dystr... ORPHA:206546
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Respiratory insufficiency, Hepatomegaly, Microcytic anemia, Hepatiti... ORPHA:848
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Hemolytic anemia, Renal insufficiency, Foam cells, Normochromic anemia OMIM:245900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Enlarged kidney, Anemia, Extramedullary hematopoiesis, Hepatomegaly, Thrombocytopenia... OMIM:615285
Immunodeficiency, Common Variable, 6
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ... OMIM:613496
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers, Abnormality of retinal pigmentation ORPHA:480
Pontocerebellar Hypoplasia, Type 1C
Death in childhood, Spinal muscular atrophy, Respiratory insufficiency, Skeletal muscle atrophy, ... OMIM:616081
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy, Renal hypoplasia OMIM:600151
Sjögren-Larsson Syndrome
Macular degeneration, Short stature, Abnormality of retinal pigmentation, Retinopathy, Generalize... ORPHA:816
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Short stature, Nephronophthisis, Chronic kidney disease, Retinal degeneration OMIM:615630
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy OMIM:613660
Glycogen Storage Disease Ib
Delayed puberty, Proteinuria, Decreased glomerular filtration rate, Enlarged kidney, Short statur... OMIM:232220
Hsd10 Mitochondrial Disease
Optic atrophy, Abnormal mitochondrial morphology, Retinal degeneration OMIM:300438
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polycystic kidney dysplasia, Antenatal intracerebral hemorrhage, Enlarged kidney, Hepatomegaly, R... OMIM:608836
Microphthalmia, Isolated, With Coloboma 7
Inferior chorioretinal coloboma, Microphthalmia OMIM:614497
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtration rate, Tubu... OMIM:174000
Congenital Toxoplasmosis
Jaundice, Anemia, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Cardiomegaly, As... ORPHA:858
Retinitis Pigmentosa 84
Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:618220
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Chorioretinal coloboma, Bilateral microphthalmos, Microphthalmia OMIM:611638
Schimke Immuno-Osseous Dysplasia
Stroke, Transient ischemic attack, Proteinuria, Pulmonary arterial hypertension, Hypertension, Ly... ORPHA:1830
Dyskeratosis Congenita, Autosomal Dominant 1
Dyspnea, Leukopenia, Aplastic anemia, Anemia, Lymphopenia, Cirrhosis, Increased mean corpuscular ... OMIM:127550
Orotic Aciduria
Oroticaciduria, Pyrimidine-responsive megaloblastic anemia, Anisocytosis, Folate-unresponsive meg... OMIM:258900
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Retinopathy, Retinal pigment epithelial mottling, Stage 5 chronic kidney disease OMIM:219900
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Death in childhood, Acute hepatic failure, Pleural effusion, Edema, Hemolytic... OMIM:619644
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Myopathy, Arrhythmia, Weakness of facial musculature, Respiratory insufficiency due to m... ORPHA:352447
Denys-Drash Syndrome
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Nephropathy, Nephro... OMIM:194080
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Lymphopenia, Respiratory failure OMIM:619773
Cardiomyopathy, Familial Hypertrophic, 27
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... OMIM:618052
Intermediate Nemaline Myopathy