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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
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Meningioma
Papilledema, Hypogonadotropic hypogonadism, Urinary incontinence, Facial palsy, Upper limb muscle... 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, Optic atrophy, Nephrotic syndrome, Retinal arte... OMIM:249660
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat... ORPHA:563
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, H... OMIM:615993
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Severe short stature, Hypogonadotropic hypogonadism, Central heterochromia, ... OMIM:275400
Nephrotic Syndrome, Type 17
Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... OMIM:618176
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr... ORPHA:2041
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Short stature, Retinal pigment epithe... OMIM:618889
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Distal lower limb amyotrophy, Macular degeneration, Distal upper limb amyotrophy, Distal lower li... OMIM:619764
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria OMIM:236130
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Dehydration, Respiratory insufficiency, Ane... ORPHA:27
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Short stature, Hypermela... OMIM:617730
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism, Rod-cone dystrophy, Retinal ... OMIM:615982
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Nephronophthisis
Abnormality of retinal pigmentation, Renal insufficiency ORPHA:655
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Drusen, Chronic kidney disease, Stage 5 chronic kidney disease,... ORPHA:54370
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... OMIM:308990
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal lower limb amyotrophy, Proteinuria, Claw hand deformity, Stage 5 chronic kidney disease, F... OMIM:614455
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Cryptorchidism, Stage 5 chr... OMIM:617575
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Patent duc... OMIM:612561
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxy... ORPHA:49827
Senior-Loken Syndrome 7
Retinal degeneration, Nephronophthisis OMIM:613615
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Cryptorchidism, Growth delay, Pigmentary retinopathy, Hypogonadism, Micropenis, Retinal degeneration ORPHA:3363
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Premature ovarian insufficiency, Retinal dystrophy, Short st... ORPHA:3156
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... ORPHA:567548
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Papillorenal Syndrome
Renal cyst, Macular degeneration, Gliosis, Vesicoureteral reflux, Multicystic kidney dysplasia, S... OMIM:120330
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate... ORPHA:98826
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
L-2-Hydroxyglutaric Aciduria
L-2-hydroxyglutaric aciduria, Optic atrophy, Gliosis OMIM:236792
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... ORPHA:422
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Short stature, Minimal change glomerulonephritis, Stage... OMIM:618348
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, ... OMIM:609049
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Gro... OMIM:256300
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Drusen, Glomer... ORPHA:329918
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Alport Syndrome
Mesangial hypercellularity, Macular degeneration, Nephritis, Tubulointerstitial fibrosis, Glomeru... ORPHA:63
Spinocerebellar Ataxia, Autosomal Recessive 12
Growth delay, Optic atrophy, Retinal degeneration OMIM:614322
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Nephronophthisis 15
Retinal degeneration, Nephronophthisis OMIM:614845
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... OMIM:249270
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... ORPHA:99106
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Microcytic an... ORPHA:90308
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
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
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Morm Syndrome
Micropenis, Retinal atrophy, Retinal dystrophy, Abnormality of the kidney ORPHA:75858
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Short stature, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne... OMIM:301006
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Hypergonadotropic hypogonadism, Ragged-red muscle fibers, N... OMIM:607426
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal chorioretinal morphology, Macular dyst... ORPHA:225
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Nephronophthisis 14
Retinal degeneration, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Iron deficienc... ORPHA:97214
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Senior-Loken Syndrome 8
Global glomerulosclerosis, Retinal dystrophy, Glomerular subepithelial immune-complex deposits, M... OMIM:616307
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy, Primary amenorrhea OMIM:616947
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Short stature, Rhizomelia, Optic atrophy, Disproportionate short-trunk s... OMIM:602271
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Death in infancy, Respiratory distress, S... OMIM:615512
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Short stature, Optic atrophy, Hypo... OMIM:251300
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Formiminoglutamic Aciduria
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic... ORPHA:51208
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Birk-Aharoni Syndrome
Cryptorchidism, Macrocytic anemia, Muscular ventricular septal defect, Micropenis OMIM:620071
Diamond-Blackfan Anemia 7
Macrocytic anemia, Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum... OMIM:612562
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Myopathy ORPHA:2579
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia, Uraciluria, Optic atrophy OMIM:274270
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch... ORPHA:860
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Microscopic hematuria ORPHA:2613
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Galloway-Mowat Syndrome 6
Proteinuria, Short stature, Growth delay, Nephrotic syndrome, Focal segmental glomerulosclerosis,... OMIM:618347
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Retinal detachment, Proteinuria, Hematuria ORPHA:375
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Flexion contracture, Optic atrophy, Retinal degeneration OMIM:256730
Cednik Syndrome
Proteinuria, Short stature, Optic atrophy, Nephrotic syndrome, Hypogonadism ORPHA:66631
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Nephrolithiasis, Hematuria, Chorioretinal ... ORPHA:2196
Transaldolase Deficiency
Edema, Hydrops fetalis, Abnormal respiratory system physiology, Hepatosplenomegaly, Biventricular... ORPHA:101028
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotroph... OMIM:253300
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Cofs Syndrome
Abnormality of retinal pigmentation, Short stature, Camptodactyly of finger, Optic atrophy, Hypog... ORPHA:1466
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Focal segmental glomerulosclero... OMIM:616239
Babesiosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Myocardial infarction, Splenomegaly, Congest... ORPHA:108
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... OMIM:619705
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, Neutropenia, Atrial ... ORPHA:124
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Stroke-like episode,... OMIM:222300
Ceroid Lipofuscinosis, Neuronal, 3
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:204200
Cat-Eye Syndrome
Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Chorioretinal coloboma,... ORPHA:195
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Urinary incontinence, Thenar muscle atrophy, Urinary urgency, Macular de... OMIM:604360
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... OMIM:598500
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Severe short stature, Proteinuria ORPHA:2820
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... OMIM:253700
Galactosemia I
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Albuminuria, Aminoaciduria, Gala... OMIM:230400
Takayasu Arteritis
Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial... ORPHA:3287
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Hydro... OMIM:269920
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Optic atrophy, Hematuria, Chorioretinal coloboma, Microphthalmia ORPHA:1473
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia, Death in infancy, Cardiomyopathy OMIM:619046
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... OMIM:610198
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Proteinuria, Edema, Hypertension, Thrombocytopenia OMIM:189800
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... ORPHA:99104
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hypertension, Abnormality of the live... ORPHA:2169
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia, Chorioretinal coloboma OMIM:120433
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Short stature, Stage 5 chronic kidney disease, Nephroti... OMIM:617729
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Diamond-Blackfan Anemia 5
Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni... OMIM:612528
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia, Renal hypoplasia, Intrauterine growth retardation OMIM:615665
Frasier Syndrome
Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Focal segmental glomeruloscleros... OMIM:136680
Leber Congenital Amaurosis 1
Fundus atrophy, Optic disc drusen, Growth delay, Pigmentary retinopathy, Hyperthreoninuria, Atten... OMIM:204000
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... OMIM:611555
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... OMIM:617780
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con... OMIM:600884
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Short stature, Macular atrophy, Optic atrophy, Microphthalmia, Retinopathy, In... OMIM:616171
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia, Muscular dystrophy OMIM:614830
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hern... OMIM:613309
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Cardiomyopathy, Dilated, 1Ff
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613286
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Crackles, Cardiomegaly, Diffuse alveolar hemorrhage, Dyspnea, H... ORPHA:99931
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Proteinuria, Weakness of facial musculature, Abnormal retinal vascular ... ORPHA:247691
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Apnea, Elevated circulati... OMIM:619048
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Congenital Myopathy 8
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea... OMIM:618654
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Thrombocytopenia 5
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Myopathy OMIM:551500
Bardet-Biedl Syndrome 9
Renal insufficiency, Bone spicule pigmentation of the retina, Irregular menstruation, Rod-cone dy... OMIM:615986
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Growth delay, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy, Macrocytic anemia, Increased mitochondrial number, Methylmalonic aciduri... OMIM:615578
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Sandhoff Disease
Splenomegaly, Cherry red spot of the macula, Congestive heart failure, Hepatomegaly ORPHA:796
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertensive retinopathy, Proteinuria, Elevated urinary norepinephrine level, Elevated urinary do... ORPHA:276621
Pyknoachondrogenesis
Stillbirth OMIM:265880
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, S... OMIM:616108
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine OMIM:266130
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Retinopathy, Gliosis OMIM:615119
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, P... ORPHA:347
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Camptodactyly, ... OMIM:619751
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat... OMIM:613313
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Aminoaciduria, Elevated urinary formiminoglutamic acid le... OMIM:229100
Multiple Mitochondrial Dysfunctions Syndrome 5
Growth delay, Pigmentary retinopathy OMIM:617613
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Moderately short stature, Central retinal vessel vascular to... ORPHA:506353
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Right ventricular dilatation, Restrictive ventilator... ORPHA:369840
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Muscle fiber hyaline bodies, Limb-girdle muscle weakness, Type 1 muscle fib... OMIM:255160
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Cryp... OMIM:614294
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... OMIM:614096
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Glycogen Storage Disease Ia
Decreased muscle mass, Proteinuria, Short stature, Lipemia retinalis, Nephrolithiasis, Growth del... OMIM:232200
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure, Death in infancy OMIM:212080
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Death in infancy, Dicarboxylic aciduria, Congestive heart failure,... OMIM:611126
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polyuria, Macular atrophy, Stag... OMIM:615994
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Optic atrophy, Primary amenorrhea, Secondary amenorrhea, Gliosis OMIM:603896
Niemann-Pick Disease, Type B
Hepatomegaly, Foam cells with lamellar inclusion bodies, Bone-marrow foam cells, Thrombocytopenia... OMIM:607616
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Hereditary Pheochromocytoma-Paraganglioma
Hypertensive retinopathy, Proteinuria, Elevated urinary norepinephrine level, Elevated urinary do... ORPHA:29072
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... ORPHA:266
Macular Degeneration, Age-Related, 3
Drusen, Macular degeneration, Distal amyotrophy, Choroidal neovascularization OMIM:608895
Endocardial Fibroelastosis
Hypoplasia of penis, Cryptorchidism, Congestive heart failure, Endocardial fibroelastosis, Restri... ORPHA:2022
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropath... OMIM:617056
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Short stature OMIM:619090
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Hypospadias, Brushfield spots, Cryptorchidism, Pigmentary retinopathy, Albumin... OMIM:214100
Aicardi-Goutieres Syndrome 9
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Chorioretinal atrophy, Stag... OMIM:619487
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia OMIM:601815
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Tachycardia, Megaloblastic anemia,... ORPHA:35858
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Rhabdomyolysis, Intracranial he... ORPHA:449285
Congenital Muscular Dystrophy With Intellectual Disability
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... ORPHA:370968
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Non-Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... ORPHA:141179
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Renal insufficiency, Splenomegaly, Dehydration, Anemia, Cardi... ORPHA:79312
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Miscarriage, Anisocytosis, Jau... ORPHA:71275
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria, Megaloblastic anemia OMIM:261100
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Patent ductus arteri... OMIM:612863
Spastic Paraplegia 15, Autosomal Recessive
Urinary incontinence, Urinary urgency, Macular degeneration, Distal amyotrophy, Urinary bladder s... OMIM:270700
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Cystathioninuria, Patent ductus a... OMIM:277380
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Incr... ORPHA:70591
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... OMIM:115197
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Short stature, Intrauterine growth retardation ORPHA:2515
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Death in infancy, Hypospadias, Abnormal pulmonary valve morphology, Camptodactyly o... ORPHA:1194
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... ORPHA:2414
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Myocardial infarction, Congestive heart failu... ORPHA:132
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Megaloblastic anemia, Intraventricular hemorrhage, Methylmalonic acidu... ORPHA:79284
Rapidly Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... ORPHA:141184
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Homocystinuria, Methylmalonic aciduria, Megaloblastic anemia OMIM:236270
Jeune Syndrome
Abnormality of retinal pigmentation, Renal insufficiency, Short stature, Nephronophthisis, Nephro... ORPHA:474
Congenital Gerbode Defect
Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf... ORPHA:99095
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotr... OMIM:212140
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... OMIM:613550
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Senior-Loken Syndrome 9
Retinal dystrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Macular degenera... OMIM:616629
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Megaloblastic anemia OMIM:250940
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Hypogonadism, Retinal degeneration OMIM:615981
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Sideroblastic anemia, Respiratory distress, Hepatomegaly, Respirat... OMIM:613561
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Flexion contracture, Leukopenia, Macrovesicular hepatic steatosis, Death in... OMIM:617303
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Bilateral cryptorchidism, Post... ORPHA:96179
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Abnormality of retinal pigmentation, Proteinuria, Short stat... ORPHA:2715
Fabry Disease
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... OMIM:301500
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Laurence-Moon Syndrome
Pigmentary retinopathy, Micropenis, Chorioretinal atrophy, Short stature OMIM:245800
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... ORPHA:3400
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Stage 5 chronic kidney disease, Renal... OMIM:614376
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Retinal dystrophy, Chronic kidney disease... ORPHA:261222
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma OMIM:616428
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Anemia, Hypertrophic cardiomyopathy, Ascites, Thr... ORPHA:295
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Alg9-Cdg
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Ureteral hypoplasi... ORPHA:79328
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect OMIM:612527
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Hemimegalencephaly
Optic atrophy, Gliosis ORPHA:99802
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, O... ORPHA:791
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Death in infancy, Polyhydramnios, Renal hypoplasia, Renal cyst... OMIM:614922
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Patent ductus arteriosus, Tachypnea, Methylmalonic aciduria, Coarctation of aorta... OMIM:614857
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Pseudo-Torch Syndrome 3
Death in infancy, Proteinuria, Apnea, Cerebral hemorrhage, Cardiomegaly, Leukocytosis, Respirator... OMIM:618886
Diamond-Blackfan Anemia 13
Normocytic anemia OMIM:615909
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart f... ORPHA:163596
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:608709
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Azoospermia, Cardio... OMIM:602390
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Productive cough, Co... ORPHA:454836
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Restrictive ventilatory defect, Limb-girdle muscular dystrophy, Myo... ORPHA:369847
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Congenital muscular dystrophy, Retinal dysplasia ORPHA:324416
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Mitral regurgitation, Increase... ORPHA:261250
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia OMIM:615550
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Retinal dystrophy, Exercise-induced myoglobinuria, Rhabdomyolysis, Myopathy OMIM:300653
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic renal dysplasia OMIM:613730
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Oligozoospermia, Azoospermia, Hypertension, Hepa... OMIM:615703
Donnai-Barrow Syndrome
Retinal detachment, Retinal dystrophy, Proteinuria, Congenital diaphragmatic hernia ORPHA:2143
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Mi... OMIM:606003
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Renal insufficiency, Elevated circulating aspartate aminotransferase concentrat... OMIM:619386
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Edema of the dorsum of feet, Abnormal jugular vein morphology, Increased... ORPHA:275766
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Dyspnea, Hematuria, Str... ORPHA:54057
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Hydroc... ORPHA:567546
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting OMIM:609218
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi... OMIM:612877
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Stroke-like episode, Abnormal heart morphology, Respiratory failure, De... ORPHA:70472
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Skeletal muscle atrophy, Nonim... ORPHA:367
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... OMIM:614473
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria, Myopathy ORPHA:79087
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Hypospadias, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megalobla... ORPHA:2575
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-uremic synd... ORPHA:79282
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, Pa... ORPHA:811
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Lower-limb joint co... ORPHA:99885
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Abnormality of the kidney, Macular degeneration, Rod-con... OMIM:613464
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Apnea, Ventricular septal defect, Respiratory failure, Bradycardia, Hypertrophi... OMIM:616277
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Growth delay, Moderate albuminuria, Retinopathy, Hydronephrosis OMIM:619269
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Abnormal cerebr... ORPHA:363705
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Microphthalmia, Isolated 6
Microphthalmia, Retinal fold OMIM:613517
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Glutaric aciduria, 3-Methylglutaric aciduria, Gliosis, Hepatomegaly, Sca... ORPHA:26791
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Autosomal Recessive Spastic Paraplegia Type 15
Functional abnormality of the bladder, Upper limb muscle weakness, Pigmentary retinopathy, Distal... ORPHA:100996
Refsum Disease, Classic
Rod-cone dystrophy, Limb muscle weakness, Retinal degeneration, Abnormal renal physiology OMIM:266500
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hy... ORPHA:231214
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipi... OMIM:220110
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Stroke-like e... OMIM:540000
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy, Renal hypoplasia OMIM:600151
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Short stature, Flexion co... OMIM:270200
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m... ORPHA:98870
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... OMIM:300717
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Respiratory failure, Ragged-red muscle fibers, Polyhydramnios OMIM:616794
Hsd10 Mitochondrial Disease
Optic atrophy, Abnormal mitochondrial morphology, Retinal degeneration OMIM:300438
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Short stature, Nephronophthisis, Retinal degeneration OMIM:615630
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Renal insufficiency, Proteinuria, Normochromic anemia, Foam cells OMIM:245900
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Respiratory insuff... ORPHA:848
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Macular degene... ORPHA:816
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Cryptorchidism, Flexion contracture, Skeletal muscle hypertrophy, Pigmentary retino... OMIM:613156
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,... OMIM:616081
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Glycogen Storage Disease Ib
Proteinuria, Short stature, Lipemia retinalis, Nephrolithiasis, Focal segmental glomerulosclerosi... OMIM:232220
Congenital Myopathy 14
Death in infancy, Hip contracture, Apnea, Polyhydramnios, Respiratory insufficiency due to muscle... OMIM:618414
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Inferior chorioretinal coloboma OMIM:614497
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Apnea, Cardiomegaly, Increased muscle lipid content, Knee flexion contractu... OMIM:608836
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Anemia, Ascites, Thrombocyto... ORPHA:858
Schimke Immuno-Osseous Dysplasia
Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas... ORPHA:1830
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia... OMIM:194080
Orotic Aciduria
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... OMIM:258900
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling, Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy ORPHA:363741
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Pigm... OMIM:619473
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma OMIM:611638
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Flexion contracture, Cardiomyopathy, Respi... ORPHA:171433
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glo... OMIM:619644
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Death in infancy, Edema, Cryptorchidism, Patent ductus arteriosus, Cholestasis, Ane... OMIM:608104
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure... OMIM:235200
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Respiratory insufficiency due to muscle weakness, Dyspnea, Dilate... ORPHA:352447
Immunodeficiency 95
Respiratory distress, Respiratory failure, Lymphopenia, Recurrent viral pneumonia OMIM:619773
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy OMIM:601794
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Persistence of hemoglobin F, Increased mean corpuscular vol... OMIM:610629
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... OMIM:618849
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu... OMIM:256550
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy, Gliosis OMIM:256000
Cystinosis
Renal insufficiency, Proteinuria, Short stature, Renal tubular dysfunction, Myopathy, Aminoacidur... ORPHA:213
Noonan Syndrome 12
Ventricular septal defect, Polyhydramnios, Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, Su... OMIM:618624
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ane... ORPHA:2123
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio... OMIM:611705
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Sudden cardiac death... ORPHA:99901
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Dyspnea, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneumonitis, Increas... OMIM:127550
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Retinal dystrophy, Facial palsy, Flexion contracture, Macroglossia, Calf muscle hypertrophy, Musc... OMIM:613155
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... OMIM:302060
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal heart valve morphology, Patent ductus arteriosus, Thin skin, Aorti... ORPHA:98892
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Calf muscle pseudohypertrophy, Splenomegaly, Congestive heart fa... ORPHA:79083
Ring Chromosome 14 Syndrome
Growth delay, Pigmentary retinopathy OMIM:616606
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Polyhydramnios, Respiratory failure, Congenital contracture, Gliosis OMIM:225753
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Coronary artery calcification... OMIM:208000
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Scimitar Syndrome
Respiratory distress, Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Coug... ORPHA:185
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Cirrhotic Cardiomyopathy
Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Hepatomegaly, Elevated pulmo... ORPHA:57777
Melas
Proteinuria, Hypogonadotropic hypogonadism, Short stature, Ragged-red muscle fibers, Optic atroph... ORPHA:550
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Ventricular septal defect,... OMIM:208085
Combined Oxidative Phosphorylation Deficiency 17
Death in childhood, Congestive heart failure, Hypertrophic cardiomyopathy, Death in infancy OMIM:615440
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorr... OMIM:617397
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Respiratory failure, ... ORPHA:890
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... OMIM:617052
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Optic atrophy, Skeletal muscle steatosis, Renal tubular dysfuncti... ORPHA:436271
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Recurrent urinary tract infections, Bone spicule pigmentation of the ret... OMIM:609033
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Thrombocytopenia ORPHA:67048
Propionic Acidemia
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Apnea, Cerebellar hemorrha... OMIM:606054
Malaria
Anemia, Acute kidney injury, Respiratory distress, Thrombocytopenia ORPHA:673
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatosplenomegaly, Decr... OMIM:609628
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, Myopathy, 3-Methylglutaconic aci... OMIM:212350
Asbestos Intoxication
Reduced vital capacity, Edema, Right ventricular failure, Reduced forced vital capacity, Nonprodu... ORPHA:2302
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Polyhydramnios, ... OMIM:616867
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal... OMIM:275350
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septa... ORPHA:980
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Atransferrinemia
Congestive heart failure, Abnormality of the liver, Hypochromic anemia OMIM:209300
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Elevated he... ORPHA:398124
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Macrocytic anemia, Myopathy, Weakness of facial muscul... ORPHA:98673
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Congenital diaphragmatic hernia, Abn... ORPHA:2260
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... ORPHA:86839
Nemaline Myopathy 8
Death in infancy, Facial palsy, Polyhydramnios, Flexion contracture, Respiratory failure, Myofibr... OMIM:615348
Narp Syndrome
Optic disc pallor, Short stature, Retinal arteriolar tortuosity, Retinal pigment epithelial mottl... ORPHA:644
Microphthalmia, Syndromic 13
Microphthalmia, Short stature, Chorioretinal coloboma OMIM:300915
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Short stature, Abnormal retinal morphology... ORPHA:251004
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria, Decreased level of coenzyme Q10 in skeletal muscle OMIM:614652
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... OMIM:614399
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... OMIM:611590
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At... OMIM:619472
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hepatic steatosis, Splenomegaly, Congestive heart failure, Abnormality of skeletal ... ORPHA:2348
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Jaundice, Anemia... ORPHA:290
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ... OMIM:618234
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy... OMIM:607598
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Cryptorchidism, Facial... OMIM:611890
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, ... ORPHA:3226
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Retinal dystrophy, Rhabdomyolysis, Myopathy, Myoglobinuria ORPHA:713
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Crypto... ORPHA:110
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Epistaxis, Abn... ORPHA:33226
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Short stature, Cryptorchidis... ORPHA:3085
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Severe short stature, Proportionate short stature, Knee flexion contract... ORPHA:3208
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Retinal pigment epithelial mottling, Methylmalonic acidur... OMIM:614105
Hsd10 Disease, Infantile Type
Retinal degeneration, Optic atrophy, Abnormal concentration of acylcarnitine in the urine, Rod-co... ORPHA:391428
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy... ORPHA:308552
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Facial hypotonia, Polyhydramnios, Congestive heart failure, Nephrocalcinos... ORPHA:500533
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Retinal degeneration OMIM:616896
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased... ORPHA:398063
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Short stature, Macular coloboma, Macular atrophy, Geographic atrophy, Growth d... OMIM:619260
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Short stature, Macular scar, Hypercalciuria, Angioid str... OMIM:239000
Arterial Tortuosity Syndrome
Respiratory distress, Myocardial infarction, Pulmonary artery stenosis, Dilated cardiomyopathy, C... ORPHA:3342
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Cr... ORPHA:210136
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Short stature, Optic atrophy,... ORPHA:1173
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebellar gliosis, Flexion contracture, Abnormal medullary pyramid morphology, Gliosis, Intraute... ORPHA:79243
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Gliosis, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Short stature, Cryptorchidism, Optic at... ORPHA:2510
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Homocystinuria, Methylmalonic aciduria, Megaloblastic anemia OMIM:277410
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Pigmentary retinopat... OMIM:252011
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Microcyti... ORPHA:774
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Desmoid Tumor
Abnormality of retinal pigmentation, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... OMIM:146255
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Short stature, Cryptorchidism, Renal cyst, Horseshoe kidney, Cafe-au-lait spot, Intrauterine grow... ORPHA:166035
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Flexion contracture, Leukopenia, Atrial septal defect, Patent foramen ovale... ORPHA:505248
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Bresek Syndrome
Decreased testicular size, Hypoplasia of the bladder, Optic nerve hypoplasia, Cryptorchidism, Ren... ORPHA:85284
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Elevated circ... OMIM:618805
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Joubert Syndrome 6
Retinal degeneration, Stage 5 chronic kidney disease, Nephronophthisis, Chorioretinal coloboma OMIM:610688
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Hypermelanotic macule, Bilateral cryptorchidism, Disproportiona... OMIM:242900
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Leukocytosis,... OMIM:615895
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... ORPHA:464343
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture... ORPHA:2590
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Abnormal pericardium morph... ORPHA:183
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Death in childhood, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Urinary incontinence, Polyhydramnios, Pericardial effusion, Multiple muscular v... OMIM:620070
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Death in infancy, Splenomegaly, Abnormality of the spleen, Flexion co... ORPHA:85212
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough, Tubulointerstitial fi... OMIM:263000
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent... ORPHA:324604
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Death in infancy, Congestive heart failure, Flexion contracture, Respira... ORPHA:157973
Igg4-Related Aortitis
Thoracic aortic aneurysm, Asthma, Hypereosinophilia, Abnormal aortic arch morphology, Ascending t... ORPHA:449400
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ... ORPHA:83461
Alg6-Cdg
Macroglossia, Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Alg1-Cdg
Renal insufficiency, Abnormal heart morphology, Cardiomyopathy, Nephrotic syndrome, Respiratory f... ORPHA:79327
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia, Death in infancy OMIM:619302
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy, Hypospadias, Renal cyst OMIM:605231
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop... ORPHA:2299
Castleman Disease
Renal insufficiency, Dyspnea, Jaundice, Anemia, Decreased mean corpuscular volume, Hematuria, Ana... ORPHA:160
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Systemic Sclerosis
Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Chronic kidney d... ORPHA:90291
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... OMIM:609015
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... ORPHA:439232
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Spastic Paraplegia 50, Autosomal Recessive
Optic disc pallor, Gliosis, Limb hypertonia OMIM:612936
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Acute Interstitial Pneumonia
Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemi... ORPHA:79126
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi... OMIM:618775
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Macrocytic anemia, Granulocytopenia, Congenital diaphragmatic hernia OMIM:606164
Vexas Syndrome
Macrocytic anemia, Arteritis, Thrombocytopenia OMIM:301054
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Respiratory insu... OMIM:613845
Al Amyloidosis
Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,... ORPHA:85443
Rhabdoid Tumor
Respiratory insufficiency, Hematuria, Hypertension, Anemia, Neoplasm of the liver, Internal hemor... ORPHA:69077
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Abnormal EKG, Proteinuria, Myocardial infarction, Congestive h... ORPHA:330001
Biemond Syndrome Type 2
Short stature, Hypospadias, Hypogonadotropic hypogonadism, Hypogonadism, Delayed puberty, Microph... ORPHA:141333
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Gm1-Gangliosidosis, Type I
Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Splenomegaly, Congestive heart f... OMIM:230500
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Abnormal atrial arrangement, Atrial situs ambiguous, Productive co... ORPHA:244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Flexion contracture, Muscular dystrophy, Microphthalmia, Retinal degenera... OMIM:615249
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Skeletal muscle atrophy, Elevated circulating as... OMIM:245400
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele,... ORPHA:261102
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Edema, Splenomegaly, Jaundice, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne... OMIM:620296
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Short stature, Cryptorchidism, Nephrotic syndrome, Nephropathy ORPHA:1192
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Thrombocytopenia OMIM:613606
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Muscular dystrophy OMIM:615181
Muscular Dystrophy, Congenital, 1B
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... OMIM:604801
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Short stature, Abnormal vitreous humor morphology, Exudative retinopathy, Exu... ORPHA:2788
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric... OMIM:253250
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Short stature, Optic atrophy, Stage 5... OMIM:268315
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Elevated hemoglobin A1c, Elevated circulating aspart... OMIM:617253
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Peau d'orange, Ventricular septal defe... OMIM:614576
Preeclampsia
Elevated hepatic transaminase, Proteinuria, Chronic kidney disease, Elevated diastolic blood pres... ORPHA:275555
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to mu... OMIM:310200
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Optic atrophy, Gliosis, Limb hypertonia OMIM:614498
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... OMIM:612422
Cholestasis, Progressive Familial Intrahepatic, 12
Proteinuria, Short stature OMIM:620010
Boutonneuse Fever
Elevated hepatic transaminase, Renal insufficiency, Vasculitis, Leukopenia, Respiratory failure, ... ORPHA:83313
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot... ORPHA:52430
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxi... ORPHA:99147
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hemolytic-uremic syn... OMIM:614727
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract... ORPHA:365
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... OMIM:612098
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Upper limb muscle weakness, Respirat... ORPHA:90117
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Intracranial hemo... ORPHA:3260
Vici Syndrome
Abnormality of retinal pigmentation, Short stature, Optic atrophy, Ureteral atresia, Renal tubula... ORPHA:1493
Scheie Syndrome
Retinal degeneration OMIM:607016
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... OMIM:616166
Niemann-Pick Disease, Type A
Hepatomegaly, Skeletal muscle atrophy, Foam cells with lamellar inclusion bodies, Elevated circul... OMIM:257200
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Nephropathy... ORPHA:324
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... OMIM:278000
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri... OMIM:252150
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methyl... OMIM:251000
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo... ORPHA:340
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
Hypotrichosis With Juvenile Macular Degeneration
Short stature, Melanocytic nevus, Macular degeneration, Abnormality of macular pigmentation, Frec... ORPHA:1573
Niemann-Pick Disease, Type C2
Hepatomegaly, Death in infancy, Neonatal respiratory distress, CNS foam cells, Polyhydramnios, Bo... OMIM:607625
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormal heart valve morphology, Heparan sulfate excretion in urine, Splenomegaly, ... OMIM:309900
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Pulmonary Arteriovenous Malformation
Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart... ORPHA:2038
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Microcytic anemia, Reduced forced vital capacity, Lacticaciduria, Distal amy... OMIM:618811
Refsum Disease
Abnormality of retinal pigmentation, Renal insufficiency, Skeletal muscle atrophy, Microphthalmia... ORPHA:773
Dent Disease 2
Short stature, Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal ... OMIM:300555
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Poikilocytosis, Eleva... OMIM:615234
Hyperekplexia 4
Flexion contracture, Respiratory failure, Distal arthrogryposis, Camptodactyly, Umbilical hernia OMIM:618011
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, C... ORPHA:445038
Moyamoya Disease With Early-Onset Achalasia
Abnormal cerebral vascular morphology, Raynaud phenomenon, Abnormal platelet aggregation, Hyperte... ORPHA:401945
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Vascular granular osmiophilic material deposition, Respiratory ... OMIM:610127
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Respiratory failure, Limb muscle weakness OMIM:600561
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... OMIM:264800
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short stature, Renal cyst, Horseshoe kidney, Hypoautofluorescent retinal lesion, Cafe-au-lait spo... OMIM:250410
American Trypanosomiasis
Hepatomegaly, Edema, Periorbital edema, Myocarditis, Splenomegaly, Congestive heart failure, Dysp... ORPHA:3386
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficienc... OMIM:610333
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypne... ORPHA:36238
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid ORPHA:209956
Familial Pseudohyperkalemia
Reticulocytosis, Hypertension, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Spondylo-Ocular Syndrome
Retinal detachment, Aplasia/Hypoplasia of the lens, Short stature, Facial hypotonia, Disproportio... ORPHA:85194
Autoinflammatory-Pancytopenia Syndrome
Growth delay, Membranoproliferative glomerulonephritis, Proteinuria OMIM:619858
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio... ORPHA:555874
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia... ORPHA:899
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation, Renal cell carcinoma ORPHA:122
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Gliosis... OMIM:214150
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Death in infancy, Skeletal muscle atrophy, Elevated circulating... OMIM:608779
Donnai-Barrow Syndrome
Retinal detachment, Retinal dystrophy, Proteinuria, Congenital diaphragmatic hernia, Non-acidotic... OMIM:222448
Vacterl Association With Hydrocephalus
Renal hypoplasia, Respiratory insufficiency, Abnormal heart morphology, Respiratory failure, Stil... OMIM:276950
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, C... OMIM:612541
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Abnormal pericardium morphology, Congestive heart f... ORPHA:67
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Hypergonadotropic hypogonadism OMIM:614307
Warburg Micro Syndrome 4
Decreased muscle mass, Short stature, Cryptorchidism, Flexion contracture, Optic atrophy, Severe ... OMIM:615663
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Medial calcification of large arteries, Autoimmune thrombocytopenia,... ORPHA:391487
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Cockayne Syndrome
Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Retinal arteriolar constri... ORPHA:191
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficiency due to muscle weakne... ORPHA:98909
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Pericardial effusion, Pedal... ORPHA:77259
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dyspnea, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension... ORPHA:1349
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypertensive retinopathy, Proteinuria, Elevated urinary norepinephrine level, Axillary freckling,... OMIM:171420
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pericardial effusion, Splenomegaly, Pancreatic cysts, Dyspnea, He... ORPHA:464329
Amyloidosis, Familial Visceral
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria OMIM:105200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly, Renal insufficiency, Renal tubular dysfunction, Anemia, Neutr... ORPHA:289916
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Optic atrophy, Lacticaciduria, Methylmaloni... ORPHA:506
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respirat... OMIM:614299
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, Decreased muscle mass, Congestive heart failure, Recurrent pneumonia, Elbow... ORPHA:1900
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr... OMIM:212550
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Gliosis... OMIM:231680
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune ... OMIM:603909
Congenital Aortic Valve Stenosis
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... ORPHA:3093
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Developmental And Epileptic Encephalopathy 14
Gliosis OMIM:614959
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy, Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Non-Specific Early-Onset Epileptic Encephalopathy
Short stature, Optic atrophy, Retinal degeneration, Limb hypertonia ORPHA:442835
Microphthalmia, Syndromic 5
Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Short stature, Cryptorchidism, Microphth... OMIM:610125
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Decreased muscle mass, Short stature, Distal arthrogryposis,... OMIM:108145
Q Fever
Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis... ORPHA:781
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Hypospadias, Polyhydramni... OMIM:301056
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Gliosis, Short stature, Microphallus OMIM:300957
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Arthrogryposis multiplex congenita, Intrauterine growth retardation OMIM:616570
Arthrogryposis Multiplex Congenita 6
Death in infancy, Hypospadias, Polyhydramnios, Respiratory failure, Death in childhood, Neonatal ... OMIM:619334
Cln3 Disease
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Left ventricular hypertrophy, Urin... ORPHA:228346
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... OMIM:603903
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Bilater... ORPHA:2326
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Polyhydramnios, Edema, Flex... ORPHA:98905
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia OMIM:616176
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Chronic neutropenia, Thrombocytopenia OMIM:619301
Warburg Micro Syndrome 1
Microphthalmia, Cryptorchidism, Optic atrophy, Short stature OMIM:600118
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Retinal hemorrhage, Macular edema, Hematuria, Retinal exudate OMIM:192315
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Hypospadias, Cryptorchidism, Congestiv... OMIM:601808
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Hypogonadism, Short stature ORPHA:2528
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... ORPHA:449395
Cystinosis, Nephropathic
Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,... OMIM:219800
Spinocerebellar Ataxia 17
Gliosis, Urinary incontinence OMIM:607136
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Dyspnea, Hematuria, Anemia, Prolonged QTc interval, Thrombocy... ORPHA:231111
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Skeletal muscle atrophy, Urinary incontinence, Optic atrophy, Growth delay, Retractile testis, Gl... OMIM:617193
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Nephritis, Thrombocytopenia OMIM:152700
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Portal hypertension, Cardiomegaly, Hepat... ORPHA:465508
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agene... OMIM:617914
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Trisomy 13
Anophthalmia, Abnormal retinal vascular morphology, Cryptorchidism, Abnormality of the ureter, Op... ORPHA:3378
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ... ORPHA:90037
Atelis Syndrome 1
Ventricular septal defect, Bronchiectasis, Anemia, Leukopenia, Atrial septal defect, Thrombocytop... OMIM:620184
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Respiratory insuffici... ORPHA:1166
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial ... ORPHA:292
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Congestive... OMIM:616866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Retinal detachment, Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease... OMIM:166300
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Proteinuria, Dyspnea, Leukocytosis, Increased... ORPHA:90060
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... OMIM:601859
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis OMIM:212750
Temtamy Syndrome
Microphthalmia, Chorioretinal coloboma, Aortic aneurysm ORPHA:1777
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Micropenis, Gliosis, Short stature, Decreased testicular size ORPHA:457240
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Vascular granular osmiophilic material deposition, Respirat... ORPHA:168486
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Retinal detachment, Hypopigmentation of the fundus, Oligosacchariduria ORPHA:163649
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... OMIM:614921
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Bilateral cry... ORPHA:1600
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Primary testicular failure, Prote... ORPHA:85450
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Abnormality of the kidney, Short stature, Growth delay, Delayed puberty ORPHA:369
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotranspositio... OMIM:306955
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Splenomegaly, Congestive heart ... ORPHA:525731
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia ORPHA:309108
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy, Limb muscle weakness, Skeletal muscle atrophy, Weakness of facial muscula... ORPHA:329336
Cockayne Syndrome Type 3
Optic disc pallor, Neurogenic bladder, Renal insufficiency, Hydroureter, Retinal atrophy, Unilate... ORPHA:90324
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Urinary incontinence, Subarac... OMIM:232300
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Hepatomegaly, Hepatic steatosis, Abnormal atrioventricular conductio... ORPHA:280365
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, ... OMIM:194350
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy OMIM:613869
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Postnatal growth retardation, Cryptorchidism, Optic atrophy, Chorioretinal coloboma,... ORPHA:494344
Erdheim-Chester Disease
Renal insufficiency, Dysuria, Abnormal pericardium morphology, Retroperitoneal fibrosis, Congesti... ORPHA:35687
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Hepat... OMIM:203800
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Short stature, Retinal degeneration OMIM:272200
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Canavan Disease
Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy ORPHA:141
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Capillary Malformation-Arteriovenous Malformation
Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Nonimmune hydrops fetalis, Lymph... ORPHA:137667
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Giant Cell Arteritis
Renal insufficiency, Pericarditis, Epistaxis, Sudden cardiac death, Abnormality of thrombocytes, ... ORPHA:397
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Dyspnea, Oliguria, Heart murmur, Stroke, B... ORPHA:1054
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... OMIM:613834
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Cardiomegaly OMIM:300886
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Microphakia ORPHA:171844
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Renal tubul... ORPHA:228302
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Decreased muscle mass, Microcytic anemia, Hepatosplenomegaly, Rest... OMIM:619013
Adducted Thumbs Syndrome
Myopathy, Myelin-dependent gliosis, Arthrogryposis multiplex congenita OMIM:201550
Cockayne Syndrome Type 1
Renal insufficiency, Anophthalmia, Proteinuria, Hypermelanotic macule, Foot joint contracture, Po... ORPHA:90321
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Chronic pulmonary obstruct... OMIM:619825
Free Sialic Acid Storage Disease
Proteinuria, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormality of skin pigmentati... ORPHA:834
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Optic disc pallor, Short stature, Congenital diaphragmatic hernia OMIM:300887
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Encephalocele, Abnormal pulmonary valve morphology, Portal hypertens... ORPHA:974
Multiple Mitochondrial Dysfunctions Syndrome 3
Polyhydramnios, Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenit... OMIM:615330
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Orthostatic hypotension, Eosinophilia, Hepatitis, Hypotension ORPHA:199299
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Gliosis OMIM:256600
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Death in infancy, Dicarboxylic aciduria, Exercise-induced rhabdomyolysis, Sudden ca... OMIM:201475
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Anemia, Hypertension... OMIM:230800
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia ORPHA:324588
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... ORPHA:158057
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Flexion contracture, Abnormality of the urinary syst... ORPHA:158684
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Short stature, Hypergonadotropic hypogonadism, Secondary amenorrhea, Pigmentary retinopathy, Rod-... OMIM:268020
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ... ORPHA:90033
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy, Short stature ORPHA:44
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... OMIM:277400
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Proximal muscle weaknes... ORPHA:352479
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:477817
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Splenomegaly, Dyspnea, Vacuolated lymphocytes, Increased muscle li... ORPHA:565612
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Epistaxis, Thrombocytopenia ORPHA:721
Relapsing Fever
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Jaundice, Anem... ORPHA:91547
Spinocerebellar Ataxia, Autosomal Recessive 2
Short stature, Gliosis OMIM:213200
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Neurogenic bladder OMIM:619780
Lissencephaly, X-Linked, 2
Micropenis, Gliosis, Decreased testicular size OMIM:300215
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Urinary incontinence OMIM:221770
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia ORPHA:517
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Polyhydramnios, Congestive heart failure, Recurrent pneumonia, Flexion cont... OMIM:616271
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy ORPHA:91130
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasis, Respiratory insuf... ORPHA:746
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Short stature, Melanocytic nevus ORPHA:2801
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... OMIM:618195
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Myositis, Proteinuria, Edema, Pericardial effusion, Raynaud phen... ORPHA:93552
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Myopathy OMIM:261670
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakn... ORPHA:98913
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Exercise-induced myoglo... OMIM:300559
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... ORPHA:897
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Growth delay, EMG: myopathic abnormalitie... ORPHA:57
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Renal hypoplasia/aplasia, Num... ORPHA:2481
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Patent ductus art... OMIM:251290
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Aminoaciduria, P... OMIM:214110
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Seckel Syndrome 2
Few cafe-au-lait spots, Hypospadias, Short stature, Ectopic kidney, Growth delay, Microphthalmia OMIM:606744
Renal Hypoplasia, Bilateral
Proteinuria, Short stature, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, R... ORPHA:97362
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
Axial Spondylometaphyseal Dysplasia
Retinal dystrophy, Peripheral retinal degeneration, Mild postnatal growth retardation, Short stat... ORPHA:168549
Diamond-Blackfan Anemia 11
Unilateral renal agenesis, Bicuspid aortic valve, Anemia of inadequate production, Neutropenia OMIM:614900
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Hepatomegaly, Elevated hepatic transam... OMIM:260400
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Pontocerebellar Hypoplasia, Type 2A
Congenital contracture, Optic atrophy, Gliosis OMIM:277470
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Jaundice... ORPHA:1667
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Neonatal respiratory distress, Camptodactyly of fin... ORPHA:2990
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Microphthalmia... OMIM:152950
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Dyspnea, Syncope, Arrhythmia ORPHA:871
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Splenomegaly, Leukocytosi... OMIM:259720
Pulmonary Hemosiderosis
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency OMIM:178550
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Chorioretinal atrophy, Stage ... OMIM:118450
Kapur-Toriello Syndrome
Camptodactyly of finger, Cryptorchidism, Abnormality of the urinary system, Retinal coloboma, Mic... OMIM:244300
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization, Cryptorchidism ORPHA:404451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... OMIM:606612
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Proteinuria, Macrothrombocytopenia, Webbed neck, Aminoaciduria, Neutropenia... OMIM:603585
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Lissencephaly 8
Microphthalmia, Optic atrophy, Skeletal muscle atrophy OMIM:617255
Dk1-Cdg
Elevated hepatic transaminase, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hy... ORPHA:91131
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... OMIM:301068
Aceruloplasminemia
Torticollis, Retinal degeneration OMIM:604290
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Hypogonadism, Cryptorchidism, Moderate albuminuria, Optic atrophy OMIM:614231
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Ventricular septal defect, Abnormality of neutrophils, Hyposegmentatio... OMIM:169400
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidi... ORPHA:66634
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Giant platelets, Macrothrombocytope... OMIM:155100
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarct... OMIM:274150
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Elevated circulating aspartate aminotransferase concentration... OMIM:170100
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Short stature, Increased variability in muscle fiber diameter, Primary amenorr... ORPHA:502423
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Camptodactyly of finger, Congestive heart failure, Flexion c... ORPHA:261519
Baraitser-Winter Syndrome 1
Short stature, Postnatal growth retardation, Cryptorchidism, Chorioretinal coloboma, Microphthalm... OMIM:243310
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Mucopolysacchariduria, Optic atrophy, Short stature ORPHA:585
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency, Rhabdomyolysis OMIM:255110
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Edema, Pulmonary embolism, Iron deficiency anemia, Budd-Chiari syndrome, Thrombocyt... OMIM:226300
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Splenomegaly, Congestive heart failure, Paten... ORPHA:354
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Xerostomia, Biliary cirrhosis, Hepatitis, Leukope... ORPHA:227990
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Mitral valve calcification, Calcium nephrolithiasis, Right ventricular failure, Inc... ORPHA:60025
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... ORPHA:139507
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Knee flexion cont... OMIM:604416
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglo... ORPHA:90041
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertension, Respiratory failure, Myopathy, Cirrhosis, Hepatic steatosis ORPHA:363400
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Skeletal muscle atrophy, Dyspnea, Rhabdomyolysis, Leukopenia, Myopathy, Pal... OMIM:255125
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Renal... OMIM:613388
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... ORPHA:70578
Lesch-Nyhan Syndrome
Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular atrophy OMIM:300322
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Proteinuria, Edema, Myocarditis, Leukocytosis, Vas... ORPHA:2331
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy, Ar... OMIM:613404
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Retinal pigment epithelial mottling, Knee flexion contracture, Calf muscle... OMIM:618733
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated hepat... OMIM:619355
Microcephaly 10, Primary, Autosomal Recessive
Intrauterine growth retardation, Arthrogryposis multiplex congenita, Gliosis OMIM:615095
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Pheochromocytoma
Hypertensive retinopathy, Proteinuria, Elevated urinary norepinephrine level, Renal artery stenos... OMIM:171300
Kearns-Sayre Syndrome
Short stature, Ragged-red muscle fibers, Renal tubular acidosis, Pigmentary retinopathy, Renal Fa... OMIM:530000
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Arima Syndrome
Proteinuria, Polyuria, Retinal dystrophy, Optic atrophy, Stage 5 chronic kidney disease, Hematuri... OMIM:243910
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... ORPHA:79124
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture OMIM:313420
Mannosidosis, Alpha B, Lysosomal
Growth delay, Macroglossia, Gliosis, Retinal degeneration OMIM:248500
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure, Hydroureter, Hydronephrosis OMIM:618240
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Short stature, Chronic kidney disease, Renal cyst, Nephritis, R... OMIM:208500
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... ORPHA:42
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Limb-girdle muscle weakness, Rhabdomyolysis, Optic atrophy, Macroglossia, 3-Methylglut... OMIM:251900
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... ORPHA:75840
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Xerostomia, Biliary cirrhosis, Hepatitis, Leukope... ORPHA:227982
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Proximal tubulopathy, Polyuria, Mottled pigmentation of photoexposed areas OMIM:560000
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Non-Functioning Paraganglioma
Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure, Elevated ur... ORPHA:94080
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arre... ORPHA:99828
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... OMIM:301080
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Weakness of facial musculature, Respiratory failure OMIM:618637
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Pl... ORPHA:542323
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... OMIM:308240
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Short stature OMIM:619059
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... ORPHA:85445
Xfe Progeroid Syndrome
Renal insufficiency, Premature ovarian insufficiency, Proteinuria, Severe short stature, Optic at... OMIM:610965
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Nance-Horan Syndrome
Microphthalmia, Retinal detachment ORPHA:627
Multiple Benign Circumferential Skin Creases On Limbs
Hypospadias, Short stature, Cryptorchidism, Microphthalmia, Irregular hyperpigmentation, Retinopathy ORPHA:2505
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Growth delay, Increased u... OMIM:252160
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Polyhydramnios, Respiratory ... OMIM:618291
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Death in infancy, Lacticaciduria, Hyperglycinu... OMIM:605711
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Respiratory failure, Reduced natural kille... OMIM:609981
Warburg Micro Syndrome 3
Decreased muscle mass, Postnatal growth retardation, Flexion contracture, Optic atrophy, Micropht... OMIM:614222
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Calf muscle pseudohypertrophy, Hypoglycosylation of alpha-dystroglycan, Optic... ORPHA:370959
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Huntington Disease
Gliosis OMIM:143100
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... OMIM:175050
Noonan Syndrome 4
Ureteral duplication, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Pulmonic stenosi... OMIM:610733
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Postnatal growth retardation, Cryptorchidism, Multiple bladder diverticula, Micropht... ORPHA:2728
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Death in infancy, Neonatal respiratory distress, Cardiac arrest, Polyhydramnio... OMIM:618947
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Abnormality of the kidney, Hyperautof... OMIM:209900
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arterio... ORPHA:163979
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Abnormal mucociliary clearance, Edema, Splenomegaly, Leukocytosis, Jau... ORPHA:90051
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundice, Asthma,... OMIM:612714
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Dehydration, Leukopenia, Thrombocytopenia OMIM:243500
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Gliosis, Lower limb hypertonia OMIM:618369
Fanconi Anemia, Complementation Group I
Short stature, Optic nerve hypoplasia, Abnormal renal morphology, Renal hypoplasia, Horseshoe kid... OMIM:609053
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Growth delay, Abnormal renal physiology OMIM:223900
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Aplasia/Hypoplasia of the lens, Lattice re... ORPHA:485
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia, Moyamoya phenomenon OMIM:615750
Myh9-Related Disease
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria... ORPHA:182050
Combined Oxidative Phosphorylation Deficiency 14
Death in infancy, Copper accumulation in liver, Anemia, Death in childhood, Aminoaciduria, Gliosi... OMIM:614946
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Vascular calcification OMIM:231000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis OMIM:102700
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Pierpont Syndrome
Microphthalmia, Cryptorchidism, Micropenis, Short stature OMIM:602342
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Leukocytosis, Anemia, Cough, Pleural effusion, Thro... ORPHA:3392
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy, Distal amyotrophy, Hypogonadism, Infertility, Oligomenorrhea, Delayed menarche ORPHA:412057
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Atrial septal defect, Patent foramen ovale, Ac... OMIM:620005
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phy... ORPHA:85447
Colchicine Poisoning
Respiratory distress, Renal insufficiency, Myocarditis, Leukocytosis, Congestive heart failure, H... ORPHA:31824
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly, Microcytic anemia OMIM:618852
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis, Thrombocytopenia, Abnormality of the musculature of the limbs ORPHA:3327
Listeriosis
Respiratory distress, Pericarditis, Liver abscess, Miscarriage, Pneumonia, Myocarditis, Congestiv... ORPHA:533
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Hurler Syndrome
Short stature, Heparan sulfate excretion in urine, Flexion contracture, Dermatan sulfate excretio... OMIM:607014
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... OMIM:608013
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Anemia, Death in childhood OMIM:615838
Lateral Meningocele Syndrome
Neurogenic bladder, Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Cryp... OMIM:130720
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation, Camptodactyly of finger ORPHA:2521
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Camptodactyly, Th... OMIM:619980
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, EMG: myopathic abnormalities, Respiratory failure, Nocturnal hypoventilation, Hypertroph... OMIM:620326
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... ORPHA:300298
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Diastasis recti, Hypochromic anemia OMIM:606893
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Fragile X Syndrome
Macroorchidism, Ascending tubular aorta aneurysm, Sinusitis, Mitral valve prolapse ORPHA:908
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte... OMIM:270100
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Elevated hepatic transam... ORPHA:36426
Blue Rubber Bleb Nevus
Intestinal bleeding, Arteriovenous malformation, Microcytic anemia ORPHA:1059
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ... ORPHA:3405
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... OMIM:300009
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Urinary incontinence, Spinal muscular atrophy, Camptodactyly of finger, Denervation of the diaphr... OMIM:604320
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Ragged-red muscle... OMIM:600462
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Renal insufficiency, Pericarditis, Sinusitis, Epistaxis, Congestive ... ORPHA:727
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency, Rhabdomyolysis OMIM:612933
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ... ORPHA:85446
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Facial edema, Periorbital edema, Fulminant hepatitis, Nonproducti... ORPHA:319213
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Recurrent sinusitis, Anemia OMIM:613101
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri... OMIM:619657
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, ... OMIM:619064
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Multiple joint contractu... ORPHA:70
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... OMIM:616084
Fanconi Anemia, Complementation Group F
Pneumonia, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, Vesicoureteral reflux, Renal... OMIM:603467
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... OMIM:173590
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Short stature, Camptodactyly of finger, Renal hypoplasia/aplasia, Crypt... ORPHA:568
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Blau Syndrome
Pericarditis, Facial palsy, Camptodactyly of finger, Splenomegaly, Dyspnea, Xerostomia, Stage 5 c... ORPHA:90340
Kapur-Toriello Syndrome
Microphthalmia, Hypoplasia of penis, Retinal coloboma ORPHA:2328
Fanconi Anemia, Complementation Group B
Death in infancy, Ventricular septal defect, Aplastic anemia, Patent ductus arteriosus, Coarctati... OMIM:300514
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Palpebral edema, Diastasis recti, Cardiomegaly, Splenomegaly,... OMIM:252500
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas... OMIM:263400
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Neonatal alloimmune thrombo... ORPHA:51
Nail-Patella Syndrome
Renal insufficiency, Biceps aplasia, Proteinuria, Glomerulonephritis, Short stature, Absence of p... OMIM:161200
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Stroke-like episode, Anemia, H... OMIM:185070
Transcobalamin Deficiency
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... ORPHA:859
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Hypospadias, Facial palsy, Polyhydramnios, Edema of the dorsum of hands,... ORPHA:171430
Pneumocystosis
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... ORPHA:723
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Gener... ORPHA:171
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Short stature, Retinal pigment epithe... OMIM:617547
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Cryptorchidism, Death in childhood, Micropenis, Thrombocytopenia OMIM:615597
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Hypospadias, Asth... ORPHA:209905
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Warburg Micro Syndrome 2
Postnatal growth retardation, Cryptorchidism, Flexion contracture, Optic atrophy, Microphthalmia,... OMIM:614225
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Pulmonary arterial hypertension OMIM:616045
Necrotizing Enterocolitis
Shock, Apnea, Edema, Leukocytosis, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotensi... ORPHA:391673
Specific Granule Deficiency 2
Absent neutrophil specific granules, Death in infancy, Recurrent pneumonia, Neutropenia, Anemia, ... OMIM:617475
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Polyhydramnios, Flexion contracture, Respiratory insufficiency, Facial di... OMIM:618186
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai... ORPHA:90349
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Reticulocytopenia, Hydrops fetalis, Dehydration, 3-Methylglutaric aciduria,... OMIM:557000
H Syndrome
Psoriasiform dermatitis, Microcytic anemia, Abnormal cardiovascular system physiology, Bronchiect... ORPHA:168569
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... ORPHA:98850
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Short stature, Intrauterine growth retardation ORPHA:2518
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Gliosis OMIM:221820
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard... ORPHA:679
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Cryptorchidism, Patent ductus arteriosus, Respiratory failure, Atrial sep... OMIM:620327
Primary Familial Polycythemia
Epistaxis, Abnormal hemoglobin, Dyspnea, Cough, Polycythemia, Exertional dyspnea ORPHA:90042
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Anemia, Congenital Dyserythropoietic, Type Iiia
Hemosiderinuria, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemi... OMIM:105600
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Short stature, Growth delay, Glycosuria, Aminoaciduria, Low-molecular-weight p... OMIM:615605
Macs Syndrome
Dilation of Virchow-Robin spaces, Palpebral edema, Cryptorchidism, Urethral stenosis, Bronchiecta... OMIM:613075
Bardet-Biedl Syndrome 20
Papilledema, Proteinuria, Bilateral cryptorchidism, Retinal vascular tortuosity, Male hypogonadis... OMIM:619471
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrop... OMIM:616897
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... ORPHA:5
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture... OMIM:603689
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... ORPHA:2547
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Gliosis, Abnormal mitochondrial morphology ORPHA:275872
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Glycogen Storage Disease V
Dark urine, Exercise-induced rhabdomyolysis, Myoglobinuria, Rhabdomyolysis OMIM:232600
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Conge... ORPHA:14
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Microcytic anemia, Cryptorchidism, Flexion contracture, HbH hemoglobin ORPHA:98791
Congenital Generalized Lipodystrophy
Hepatomegaly, Prominent superficial veins, Congestive heart failure, Skeletal muscle hypertrophy,... ORPHA:528
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Skeletal muscle atrophy, Recurrent myoglobinuria, Glycogen accumulation in muscle fib... ORPHA:368
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Urina... OMIM:606071
Rin2 Syndrome
Cryptorchidism, Umbilical hernia, Aortic aneurysm, Upper eyelid edema ORPHA:217335
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natural killer cell coun... OMIM:616050
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Acute rhabdomyolysis, Short stature, Camptodactyly of finger, Micr... ORPHA:48431
Bacterial Toxic-Shock Syndrome
Shock, Respiratory distress, Renal insufficiency, Tachycardia, Sinusitis, Glomerulonephritis, Ede... ORPHA:36234
Acute Lung Injury
Shock, Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, D... ORPHA:178320
Tyrosinemia, Type I
Renal insufficiency, Nephrocalcinosis, Growth delay, Renal Fanconi syndrome, Glomerular sclerosis... OMIM:276700
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Pancreatic h... OMIM:602782
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Ane... OMIM:226990
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... ORPHA:363618
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Pulmonary artery atresia, Neonatal death, Atrial septal defect, ... OMIM:601186
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia, Camptodactyly of finger ORPHA:1617
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Gliosis OMIM:105550
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy, Short stature ORPHA:436245
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... OMIM:300280
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Hypoplasia... ORPHA:906
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... OMIM:134600
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the abdominal wall musculature, Retino... ORPHA:578
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Umbilical hernia, Megaloblastic anemia ORPHA:79351
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Calf muscle pseudohypertrophy, Short stature, Postnatal growth retardation, O... ORPHA:96180
Meckel Syndrome, Type 8
Anophthalmia, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic kidneys, Enlarged kidney OMIM:613885
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Retinal dystrophy, Chorioretinal coloboma ORPHA:231736
Chromosome Xp11.3 Deletion Syndrome
Short stature, Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenua... OMIM:300578
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Short stature, Decreased fertility, Primary amenorrhea, Pigmentary... ORPHA:2235
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration, Leg muscle stiffness ORPHA:284289
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arterios... OMIM:601005
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Functional abnormality of the bladder ORPHA:71211
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Farber Disease
Elevated hepatic transaminase, Respiratory distress, Skeletal muscle atrophy, CNS foam cells, Int... ORPHA:333
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Proximal amyotrophy OMIM:604484
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Tricuspid stenosis, Edema, Right ventricular failure, Arterial occ... ORPHA:100078
Dyschondrosteosis-Nephritis Syndrome
Proteinuria, Short stature, Hematuria, Mesomelic short stature, Nephropathy, Intrauterine growth ... ORPHA:1765
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Asthma, Recurrent pneumonia, Hepatosplenomegaly, Mitral regurgitation OMIM:619750
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant p... OMIM:231200
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Respiratory distress, Edema, Renal cyst, Dehydration, Ureterocele, Multicysti... ORPHA:79404
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... OMIM:300367
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Myocarditis, Congestive ... ORPHA:206569
Takenouchi-Kosaki Syndrome
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Lymphedema, Cryptorchidis... OMIM:616737
Mucopolysaccharidosis Type 1
Sinusitis, Abnormal heart valve morphology, Apnea, Splenomegaly, Congestive heart failure, Abnorm... ORPHA:579
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Patent ductus arteriosus, Recurrent pneumonia, Persistence of hemoglob... OMIM:619769
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Pulmonary edema, Apnea, Edema, Cardiomegaly,... ORPHA:79330
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu... ORPHA:77261
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Autosomal Erythropoietic Protoporphyria
Edema, Microcytic anemia, Decreased liver function, Cirrhosis, Cholelithiasis ORPHA:79278
Ogden Syndrome
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Microvesic... OMIM:300855
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Pick Disease Of Brain
Gliosis OMIM:172700
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Majeed Syndrome
Hepatomegaly, Proteinuria, Edema, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Flex... ORPHA:77297
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... OMIM:600649
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Elevated hepatic transam... ORPHA:537
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Congestive heart failure, Urinary bladder sphincter dysfunctio... ORPHA:53721
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemor... ORPHA:536545
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Flexion contracture, Microphthalmia, Mild short stature OMIM:614833
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Short stature OMIM:215250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Bupht... OMIM:236670
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Proportionate short stature, Pigmentary retinopathy, Intrauterine growth r... ORPHA:71212
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Skeletal muscle atrophy ORPHA:96
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Periorbital edema, Leukocytosis, Oliguria, Lymphocytosis, Hypochromic a... ORPHA:514
Mucolipidosis Iii Alpha/Beta
Short stature, Retinopathy, Retinal degeneration OMIM:252600
Scedosporiosis
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Abnormal respiratory system physiolog... ORPHA:449280
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... OMIM:601775
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Supravalvular aortic stenosis, Vascular tortuosity, Bladder dive... OMIM:219100
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hepatomegaly, Death in infancy, Skeletal muscle atrophy, Hypospad... OMIM:252010
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Micropenis, Short stature, Gliosis OMIM:619847
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Cardiomyopathy, 3-Methylglutaconic aciduria, Limb muscle ... OMIM:619259
Norrie Disease
Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp... OMIM:310600
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Cryptorchidism, Abnormality of the pancreas, Apl... ORPHA:1926
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Optic disc hypoplasia, Facial palsy, Renal hypoplasia, Horsesh... OMIM:607323
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Felty Syndrome
Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Anemia, Rhinitis, Neutr... ORPHA:47612
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Aspira... ORPHA:258
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Increased hema... ORPHA:284227
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Cardiomegaly, Tachypnea, Hypertension, Death in childhood, Pulmonary arterial h... OMIM:613320
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure... ORPHA:508542
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency, Rhabdomyolysis ORPHA:2364
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria, Short stature OMIM:616901
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Anemia, Thrombocytopenia OMIM:615085
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Neonatal death, Atrial septal defect... OMIM:608978
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Psoriasiform dermatitis, Dysuria, Renovascular hypertensi... ORPHA:49041
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Leukocytosis, Anemia, Leu... ORPHA:520
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
Joubert Syndrome 14
Morning glory anomaly, Optic atrophy, Renal cyst, Growth delay, Microphthalmia OMIM:614424
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Achilles ... OMIM:620249
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Retinal coloboma, Renal dysplasia, Short stature OMIM:618571
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Aminoaciduria,... OMIM:619991
Cerebrooculofacioskeletal Syndrome 4
Short stature, Abnormal retinal morphology, Camptodactyly of finger, Bilateral microphthalmos, El... OMIM:610758
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Retinal dystrophy, Cryptorchidism, Chorioretinal coloboma, Microphthalmia ORPHA:139471
Werner Syndrome
Renal neoplasm, Abnormality of retinal pigmentation, Skeletal muscle atrophy, Short stature, Decr... ORPHA:902
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Hydrops fetalis, Cardiomyopathy, Abnormality of the liver, Respira... ORPHA:88618
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Chromosome 8Q21.11 Deletion Syndrome
Cryptorchidism, Growth delay, Pigmentary retinopathy, Camptodactyly, Microphthalmia, Micropenis OMIM:614230
Gaucher Disease, Type Ii
Hepatomegaly, Death in infancy, Double aortic arch, Apnea, Splenomegaly, Anemia, Stridor, Cough, ... OMIM:230900
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Congenital Disorder Of Glycosylation, Type Ia
Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypogonadism, Flexion contracture... OMIM:212065
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hepatomegaly, Pneumonia, Edema, Pericardial effusion, Splenomegal... OMIM:615846
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Respi... OMIM:608647
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Respiratory failure, Gliosis, Thrombocytopenia ORPHA:3240
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Short stature, Nephrocalcinosis, Aminoaciduria, Glycosuria OMIM:616026
Kleefstra Syndrome Due To A Point Mutation
Vesicoureteral reflux, Gliosis, Short stature, Abnormality of the kidney ORPHA:261652
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... OMIM:611881
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Premature ovarian insufficiency, Female hypogonadism, Nephrocalcinosis, Perifoveal ring of hypera... OMIM:240300
Temtamy Syndrome
Aortic regurgitation, Aortic aneurysm OMIM:218340
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Delayed puberty,... OMIM:232240
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Xeroderma Pigmentosum, Complementation Group B
Short stature, Freckling, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Microphthalmia OMIM:610651
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Abnormality of neutrophils, Thrombocytopenia, Abnormal lymphocyte morpholog... ORPHA:229717
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia OMIM:613554
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten... OMIM:618652
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Retinal detachment, Macular coloboma OMIM:615145
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Persistent left superior vena cava, Thrombocytopenia OMIM:619151
Machado-Joseph Disease
Distal amyotrophy, Urinary bladder sphincter dysfunction, Gliosis OMIM:109150
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis OMIM:300857
Aarskog-Scott Syndrome
Cryptorchidism, Umbilical hernia, Camptodactyly of finger, Congestive heart failure ORPHA:915
Cockayne Syndrome A
Hip contracture, Renal insufficiency, Retinal atrophy, Proteinuria, Short stature, Retinal pigmen... OMIM:216400
Shigellosis
Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Urethritis, Peritonitis, Rhabdom... ORPHA:810
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... ORPHA:70587
Sporadic Creutzfeldt-Jakob Disease
Gliosis, Astrocytosis ORPHA:204
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Overlap Myositis
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Raynaud phenomenon, Perif... ORPHA:206572
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia, Micropenis OMIM:308350
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... OMIM:239850
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Microcytic anemia, Respiratory insufficiency due to muscle weakness, Met... OMIM:612073
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Tachycardia, Eosinophilia,... ORPHA:98849
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Hepatic fi... OMIM:613989
Stt3B-Cdg
Respiratory distress, Cryptorchidism, Micropenis, Thrombocytopenia ORPHA:370924
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Urinary incontinence, Cardiomegal... OMIM:268800
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Pneumothorax, Mitral valve prolapse, Asc... OMIM:614816
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Increased nuchal translucency, ... ORPHA:453499
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Diastasis recti, Portal hypertension, Neonatal asphyxia, Flexion contracture... ORPHA:440713
Congenital Left Ventricular Aneurysm
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma... ORPHA:1055
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis OMIM:604218
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Congestive heart failure, Stroke ORPHA:3077
Acatalasemia
Arteriosclerosis, Microcytic anemia ORPHA:926
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Acute rhabdomyolysis OMIM:268200
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Facial hypotonia, Limb joint contracture, Achilles te... ORPHA:404454
Alkaptonuria
Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Elevated u... OMIM:203500
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Patent ductus arteriosus, Hydronephrosis, Increased mean platelet volume OMIM:300048
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Short stature, Unilateral microphthalmos, Horseshoe kidney OMIM:619318
Werner Syndrome
Short stature, Hypogonadism, Retinal degeneration OMIM:277700
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100075
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... OMIM:252920
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Patent ductus arteriosus, Jaundice, Hypopnea, 3-Methylglutaric aciduria,... OMIM:617248
Sitosterolemia 1
Reticulocytosis, Coronary artery atherosclerosis, Carotid artery stenosis, Thrombocytopenia, Sple... OMIM:210250
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Congenital Contractural Arachnodactyly
Camptodactyly of finger, Flexion contracture, Mitral valve prolapse, Congenital contracture, Arth... ORPHA:115
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Gaucher Disease
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal... ORPHA:355
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Joubert Syndrome 37
Short stature, Cryptorchidism, Hydronephrosis, Microphthalmia, Micropenis, Decreased testicular size OMIM:619185
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Short stature, Cryptorchidism, Renal hypoplasia ORPHA:1307
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytop... OMIM:616738
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Griscelli Syndrome
Encephalocele, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal... ORPHA:381
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Chorioretinal scar, Choroidal neovascularizatio... ORPHA:91500
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... OMIM:614702
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Death in infancy, Dyspnea, Patent ductus arteriosus, Dilated cardiomyopathy, Rhabdo... OMIM:610505
Retinitis Pigmentosa 74
Optic disc pallor, Abnormal renal morphology, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Hyperkalemic Periodic Paralysis
Death in early adulthood, Death in infancy, Skeletal muscle atrophy, Congestive heart failure, Fl... ORPHA:682
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myopathy, Basal ganglia gliosis, Gliosis, Increased variability in muscle fiber diameter OMIM:604377
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Nephro... OMIM:617713
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... OMIM:612289
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... OMIM:255120
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Congenital Disorder Of Glycosylation, Type Ii
Iron deficiency anemia, Dilation of Virchow-Robin spaces, Hepatomegaly OMIM:607906
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Recurrent pneumonia, Oligosacchariduria, Cardiomegaly ORPHA:3137
Dk Phocomelia Syndrome
Encephalocele, Thrombocytopenia OMIM:223340
Brucellosis
Liver abscess, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, Anemia, Miscarri... ORPHA:1304
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, 3-Methylglutaconic... OMIM:618329
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Hepatitis, Anemia, Coombs-positive... OMIM:304790
Scorpion Envenomation
Bundle branch block, Edema, Tachypnea, Prominent U wave, Ketonuria, Elevated circulating aspartat... ORPHA:466677
Fanconi Anemia, Complementation Group E
Pancytopenia, Ectopic kidney, Cryptorchidism, Reticulocytopenia, Horseshoe kidney, Abnormal heart... OMIM:600901
Microphthalmia, Syndromic 12
Microphthalmia, Cryptorchidism, Anophthalmia, Congenital diaphragmatic hernia OMIM:615524
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Hepatomegaly, Pancytopenia, Ketonuria, Methylmalonic aciduria, Dehydration,... OMIM:251110
Pearson Syndrome
Hydrops fetalis, Renal cyst, Dehydration, Abnormality of the liver, Neutropenia, Hepatic steatosi... ORPHA:699
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Tuberous Sclerosis Complex
Respiratory distress, Renal insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease... ORPHA:805
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Vasculitis, Cardiomyopathy, Prolonged ... OMIM:225750
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Pneumothorax, Microp... OMIM:617403
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia, Primary amenorrhea OMIM:191830
Marden-Walker Syndrome
Decreased muscle mass, Hypospadias, Postnatal growth retardation, Cryptorchidism, Renal hypoplasi... OMIM:248700
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Respiratory failure... OMIM:618804
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Urinary incontinence, Congestive heart failure, Respiratory ... OMIM:616482
Lcat Deficiency
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... ORPHA:650
Immunodeficiency 87 And Autoimmunity
Atrial septal defect, Atrioventricular canal defect, Hepatic steatosis, Decreased proportion of C... OMIM:619573
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variability in muscle... ORPHA:119
Myoglobinuria, Recurrent
Ragged-red muscle fibers, Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Death in infancy, Hip contracture, Polyhydramnios, Microvesicular hepatic steatosis... OMIM:300868
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Rhabdomyolysis, Tubulointerstitia... ORPHA:358
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Facial palsy... ORPHA:31826
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Tachypnea, Cholestasis, Respira... OMIM:613658
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Giant platelets, Ane... OMIM:611209
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Camptodactyly of finger ORPHA:2774
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality... OMIM:620278
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Distal lower limb amyotrophy, Abnormality of retinal pigmentation, Proximal muscle weakness in up... ORPHA:466768
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Cardiomyopathy, Hypertension, Abnormal aortic morphology, Arrhythmia ORPHA:3222
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Genetic Recurrent Myoglobinuria
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Recurrent myo... ORPHA:99845
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Death in infancy, Edema of the dorsum of feet, Ventricular septal defect, E... OMIM:274000
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Elevated hepatic tran... OMIM:300972
Matthew-Wood Syndrome
Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Horseshoe kidney... ORPHA:2470
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Atrial septal defect, Ne... OMIM:265380
Joubert Syndrome 2
Renal insufficiency, Retinal dystrophy, Optic disc coloboma, Renal cyst, Chorioretinal coloboma, ... OMIM:608091
Mirage Syndrome
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Anemia, Leukopenia, Intracranial hemorrhag... OMIM:617053
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Neph... OMIM:300554
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Neonatal respiratory distress, Cardiome... ORPHA:228308
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Tracheomalacia, Congenital dia... ORPHA:96121
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Pelvis-Shoulder Dysplasia
Short stature, Camptodactyly of finger, Mesomelic/rhizomelic limb shortening, Bilateral microphth... ORPHA:2839
Fanconi Anemia, Complementation Group A
Pancytopenia, Ectopic kidney, Cryptorchidism, Reticulocytopenia, Horseshoe kidney, Abnormal heart... OMIM:227650
Aceruloplasminemia
Refractory anemia, Torticollis, Congestive heart failure, Abnormal pancreas morphology, Hypochrom... ORPHA:48818
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita, Congenital lary... ORPHA:2254
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Short stature, Dysmenorrhea, Postnatal growth retardation, Limb-girdle m... ORPHA:79240
Alg8-Cdg
Elevated hepatic transaminase, Edema, Hydrops fetalis, Anemia, Macroglossia, Camptodactyly, Ascit... ORPHA:79325
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Rhabdomyolysis, Lacticaciduria, Tubulointerstitial nephritis, Aminoacid... OMIM:124000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Multiple cafe-au-lait spots, Intrauterine growth re... OMIM:609054
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... OMIM:265120
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... OMIM:176670
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Cardiomyopathy, Generalized amyotrophy, Thrombocytopenia, Limb hypertonia OMIM:617710
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Dilatation of the vent... ORPHA:90348
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemo... ORPHA:464453
Late Infantile Neuronal Ceroid Lipofuscinosis
Retinal degeneration ORPHA:168491
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Facial palsy, Thrombocytopenia, Anemia OMIM:616435
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular ta... OMIM:605676
Lig4 Syndrome
Pancytopenia, Psoriasiform dermatitis, Cryptorchidism, Asthma, Telangiectasia, Acute lymphoblasti... OMIM:606593
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Growth delay, Microphthalmia, Micropenis, Intrauterine growth retardation OMIM:610756
Pantothenate Kinase-Associated Neurodegeneration
Toe extensor amyotrophy, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal f... ORPHA:157850
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Polyhydramnios, Large placenta, Flexion contracture, Macroglossia, Respiratory f... ORPHA:254528
Fanconi Anemia
Leukopenia, Abnormality of the liver, Atrial septal defect, Hypospadias, Spina bifida, Cryptorchi... ORPHA:84
Wilson Disease
Acute hepatic failure, Edema, Pedal edema, Aminoaciduria, Hepatic steatosis, Hemolytic anemia, He... OMIM:277900
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Internal hemo... ORPHA:99827
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Hepatic failure, Internal hemorrhage, Thrombocytopenia ORPHA:49566
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Recurrent urinary tract infections, Premature ovarian insufficiency,... OMIM:251260
Cap Myopathy
Reduced systolic function, Central hypoventilation, Facial palsy, Abnormal muscle fiber morpholog... ORPHA:171881
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... ORPHA:90647
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Thr... ORPHA:263501
Huntington Disease-Like 1
Gliosis ORPHA:157941
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Septo-optic dysplasia, Cryptorchidism, Optic atrophy, Microphthalmia ORPHA:3301
Myopathy, Mitochondrial, And Ataxia
Short stature, Primary amenorrhea, Growth delay, Pigmentary retinopathy, Distal amyotrophy, Incre... OMIM:617675
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Anemia, Cholestatic liver di... ORPHA:540
Trisomy 18
Abnormality of retinal pigmentation, Short stature, Camptodactyly of finger, Abnormality of the u... ORPHA:3380
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Postnatal growth retardation, Hypercalciuria, Generali... OMIM:227810
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ac... OMIM:251100
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Increased nuchal translucency, ... ORPHA:453504
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Hypospadias... ORPHA:2959
Heme Oxygenase 1 Deficiency
Hematuria, Growth delay, Nephritis, Proteinuria OMIM:614034
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Increased nuchal translucency, ... ORPHA:352665
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Edema, Fluctuating splenomegaly, Fl... OMIM:610377
Ddost-Cdg
Nephrotic range proteinuria, Short stature ORPHA:300536
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism, Postnatal growth retardation, Chorioretinal coloboma OMIM:619135
Pierpont Syndrome
Microphthalmia, Cryptorchidism ORPHA:487825
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Thrombocytopenia ORPHA:3002
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Anuria, Thoracic aortic aneurysm, Patent duct... OMIM:619351
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Tay-Sachs Disease
Skeletal muscle atrophy, Hip flexor weakness, Quadriceps muscle atrophy, Optic atrophy, Gliosis, ... ORPHA:845
Adams-Oliver Syndrome 2
Microphthalmia, Optic atrophy, Limb hypertonia OMIM:614219
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Hematuria, Retinopathy ORPHA:536
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Nephritis, Thrombocytopenia OMIM:274240
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Short stature, Renal hypoplasia, Renal cyst, Buphthalmos, Pigmentary retino... OMIM:618460
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Short stature, Bull's eye macul... OMIM:216550
Osteogenesis Imperfecta
Abnormal endocardium morphology, Aortic regurgitation, Neonatal respiratory distress, Cerebral he... ORPHA:666
Cryoglobulinemic Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:91138
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Intrauterine growth retardation, Retinal neovascularization OMIM:619074
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Short stature, Ectopic kidney, Congenital diaphragmatic hernia, Cryptor... OMIM:122470
Mitochondrial Dna Depletion Syndrome 19
Hydrocele testis, Hypospadias, Microcytic anemia OMIM:618972
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria... OMIM:612925
Mandibuloacral Dysplasia Progeroid Syndrome
Proteinuria, Short stature, Postnatal growth retardation, Flexion contracture, Focal segmental gl... OMIM:619127
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Increased axial length of the globe, Macular atrophy, Chorioretinal coloboma OMIM:602499
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Respiratory failure, Renal cyst, Death in infancy OMIM:614862
Cockayne Syndrome B
Renal insufficiency, Severe short stature, Proteinuria, Postnatal growth retardation, Cryptorchid... OMIM:133540
Vici Syndrome
Atrial septal defect, Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopa... OMIM:242840
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormal optic chiasm morphology, Recurrent urinary tract infections, Retinal detachment, Hypospa... ORPHA:268261
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Anemia, Aminoaciduria, Neutropenia, Umbilical hernia, Thrombocytopenia OMIM:614520
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Respiratory f... ORPHA:158687
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Irregular hyperpigmentation ORPHA:36412
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Dyspnea, Imbalanced hemoglo... ORPHA:99867
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... OMIM:612926
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Anemia, Cardiomegaly OMIM:618838
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula... OMIM:619525
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contr... ORPHA:220393
Ohdo Syndrome
Cryptorchidism, Proteinuria, Short stature OMIM:249620
Martsolf Syndrome 1
Cardiac arrest, Congestive heart failure, Cryptorchidism, Cardiomyopathy, Tracheomalacia, Micropenis OMIM:212720
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy, Reduced sperm motility OMIM:615434
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling, Short stature OMIM:617102
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Flexion contracture, Ret... OMIM:227645
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Acro-Renal-Ocular Syndrome
Renal malrotation, Optic disc hypoplasia, Renal hypoplasia/aplasia, Postnatal growth retardation,... ORPHA:959
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Immunoglobulin A Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Optic atrophy, Hematuria ORPHA:761
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula... OMIM:115250
Otodental Syndrome
Microphthalmia, Lens coloboma, Retinal coloboma ORPHA:2791
Tangier Disease
Accelerated atherosclerosis, Carotid artery stenosis, Hepatosplenomegaly, Anemia, Facial diplegia... ORPHA:31150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Retinal dystrophy, Increased variability in muscle fiber diameter, Buphthalmos, Muscular dystroph... OMIM:616538
Lowry-Wood Syndrome
Abnormality of retinal pigmentation, Short stature ORPHA:1824
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Short stature, Cryptorchidism, Opti... ORPHA:193
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Ketonuria, Renal hypoplasia OMIM:619053
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Chronic pulmonary obstruction, Recurrent pneumonia, Bronchiectasis, ... OMIM:616576
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... ORPHA:330021
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edem... ORPHA:904
Lowry-Wood Syndrome
Elbow flexion contracture, Pigmentary retinopathy, Short stature, Intrauterine growth retardation OMIM:226960
22Q11.2 Deletion Syndrome
Polyhydramnios, Abnormal aortic arch morphology, Hypoplasia of the thymus, Vesicoureteral reflux,... ORPHA:567
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar gliosis, Flexion contracture, Distal amyotrophy, Respiratory failure OMIM:616505
Sea-Blue Histiocytosis
Hepatomegaly, Edema, Splenomegaly, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Renal Nutcracker Syndrome
Dyspareunia, Proteinuria, Dysmenorrhea, Hematuria, Renal artery stenosis, Infertility, Microscopi... ORPHA:71273
Osteogenesis Imperfecta, Type Ii
Nonimmune hydrops fetalis, Congestive heart failure, Respiratory insufficiency, Thin skin, Pulmon... OMIM:166210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Skeletal muscle atrophy, Flexion contracture, Optic atrophy, Calf muscle hype... OMIM:253800
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Renal insufficiency, Congestive heart failure, Leukocytosis, Pedal... ORPHA:247353
Knobloch Syndrome
Retinal detachment, Abnormal vitreous humor morphology, Macular degeneration, Vitreoretinopathy, ... ORPHA:1571
Fanconi Anemia, Complementation Group D2
Pancytopenia, Ectopic kidney, Cryptorchidism, Patent ductus arteriosus, Annular pancreas, Reticul... OMIM:227646
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Hypochromic anemia, Microcytic anemia OMIM:618451
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis OMIM:300752
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy, Rhabdomyolysis, Hypogonadism ORPHA:79095
Nail-Patella Syndrome
Renal insufficiency, Decreased muscle mass, Proteinuria, Abnormality of the kidney, Contracture o... ORPHA:2614
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Microphthalmia, Optic atrophy OMIM:612379
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Hypertension, Microangiopathic... OMIM:612924
Papa Syndrome
Myositis, Proteinuria ORPHA:69126
Galloway-Mowat Syndrome
Proteinuria, Short stature, Camptodactyly of finger, Nephrotic syndrome, Nephropathy, Intrauterin... ORPHA:2065
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria, Skeletal muscle atrophy ORPHA:98895
Neonatal Marfan Syndrome
Neonatal respiratory distress, Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Fl... ORPHA:284979
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Stromme Syndrome
Optic nerve hypoplasia, Bilateral renal hypoplasia, Myopathy, Retinal vascular tortuosity, Microp... OMIM:243605
Neurodegeneration With Brain Iron Accumulation 1
Decreased muscle mass, Hyperpigmentation of the skin, Urinary incontinence, Optic atrophy, Pigmen... OMIM:234200
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Camptodactyly of finger, Atri... ORPHA:261330
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Repeate... ORPHA:536467
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Congenital Fiber-Type Disproportion Myopathy
Polyhydramnios, Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsifl... ORPHA:2020
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Atelis Syndrome 2
Dyspnea, Patent ductus arteriosus, Supravalvar pulmonary stenosis, Anemia, Vitreous hemorrhage, P... OMIM:620185
Thrombocytopenia-Absent Radius Syndrome
Abnormal cardiac septum morphology, Tetralogy of Fallot, Thrombocytopenia, Horseshoe kidney ORPHA:3320
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration, Urinary incontinence, Hypomimic face ORPHA:247234
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Flexion contracture of finger, Pigmentary retinopathy, C... ORPHA:88628
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Testicular ne... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Testicular ne... ORPHA:363958
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation OMIM:619483
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Moebius Syndrome
Hypogonadotropic hypogonadism, Congenital fibrosis of extraocular muscles, Facial diplegia, Campt... OMIM:157900
Primary Sjögren Syndrome
Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Myositis, Glomerulonephritis, L... ORPHA:289390
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund... ORPHA:268
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Congestive heart failure, Arteriovenous malformation ORPHA:137608
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Acute rhabdomyolysis, Rhabdomyolysis, Optic atrophy, Myoglobinuria OMIM:616878
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation, Short stature ORPHA:2163
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Ventricular septal defect OMIM:617895
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Impotence, Gliosis, Autonomic erectile dysfunction OMIM:169500
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Hypospadias, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypoc... OMIM:301040
Mucopolysaccharidosis Type 3
Heparan sulfate excretion in urine, Flexion contracture, Optic atrophy, Pigmentary retinopathy, M... ORPHA:581
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... ORPHA:158061
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... ORPHA:758
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Cat Eye Syndrome
Renal agenesis, Short stature, Horseshoe kidney, Chorioretinal coloboma, Vesicoureteral reflux, M... OMIM:115470
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Eosinophilia, Allergic rhinitis, Asth... OMIM:615816
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Respiratory failure, Abnormality of masticatory muscle ORPHA:98755
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Hypospadias, Tracheomalacia, Congestive heart failure, Patent ductus a... ORPHA:444077
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Congestive heart f... ORPHA:558
Jacobsen Syndrome
Death in infancy, Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Cryptorc... ORPHA:2308
Lysinuric Protein Intolerance
Leukopenia, Tubulointerstitial nephritis, Renal fibrosis, Decreased glomerular filtration rate, H... ORPHA:470
Lead Poisoning
Miscarriage, Asthma, Chronic kidney disease, Imbalanced hemoglobin synthesis, Abnormal respirator... ORPHA:330015
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Alg12-Cdg
Elevated hepatic transaminase, Hypospadias, Edema, Polyhydramnios, Cryptorchidism, Muscular ventr... ORPHA:79324
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Er... ORPHA:447
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... OMIM:608328
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Phthisis bulbi, Chorioretinal... OMIM:612109
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Abnormality of retinal pigmentation, Anophthalmia, Hypospadias, Chorio... ORPHA:2556
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Mitral valve prolapse, Camptodactyly, Umbilical hernia, Joint contracture of the ... OMIM:182212
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Foot d... OMIM:214500
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Neonatal respiratory distress, Decreased heart ... OMIM:619005
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Nephroblastoma OMIM:602501
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcytic anemia, Cryptorchidism, Contracture of the proximal interphalangeal joint of the 5th f... ORPHA:293967
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Flexion contracture, Optic atrophy, Pigmentary retinopathy, Retinal dysplasia, Muscular dystrophy... OMIM:613154
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Short stature, Microphthalmia, Intra... ORPHA:2714
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Foot joint contracture, Cryptorchidism, Mitral valve prolapse, Ascendi... ORPHA:444072
Oculofaciocardiodental Syndrome
Microphthalmia, Retinal detachment, Flexion contracture of the 2nd toe, Flexion contracture of th... ORPHA:2712
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Chorioretinal degeneration, Postnatal growth retardation, Reti... ORPHA:1435
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Ca... OMIM:256040
Vascular Ehlers-Danlos Syndrome
Internal hemorrhage, Peripheral arteriovenous fistula, Hypospadias, Cryptorchidism, Respiratory i... ORPHA:286
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Polyhydramnios ORPHA:2759
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Degcags Syndrome
Polyhydramnios, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Atrial septal def... OMIM:619488
Addison Disease
Normocytic anemia, Orthostatic hypotension, Primary testicular failure, Decreased urinary potassi... ORPHA:85138
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Short stature, Congenital diaphragmatic hernia, Pigmentary retinopathy, Chordee, Mic... OMIM:309801
Cryoglobulinemia, Familial Mixed
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology OMIM:123550
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Microphthalmia, Hydronephrosis OMIM:618494
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria, Achilles tendon contracture, Macroglossia, Calf muscle hypertroph... OMIM:607155
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma, Short stature OMIM:169550
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Chronic rhinitis due to n... OMIM:259710
Metatropic Dysplasia
Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Respiratory insuffi... OMIM:156530
Carnitine Palmitoyltransferase Ii Deficiency
Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosi... ORPHA:157
Intermediate Osteopetrosis
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:210110
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Congenital diaphragmati... OMIM:208050
Aicardi-Goutieres Syndrome 5
Flexion contracture, Thrombocytopenia OMIM:612952
Hereditary Methemoglobinemia
Methemoglobinemia, Exertional dyspnea ORPHA:621
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f... ORPHA:73224
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Angina pectoris, Lymphedema, Telangiectasia, Intracranial hemorrhage, My... ORPHA:109
Lysinuric Protein Intolerance
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Stage 5 chronic kidney disease, Respiratory ... OMIM:222700
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Macroglo... OMIM:617022
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria ORPHA:100024
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Meningocele, Anisopoikilocytosis, Ab... ORPHA:46059
Trichothiodystrophy
Multiple joint contractures, Cryptorchidism, Bilateral microphthalmos, Macular degeneration, Nume... ORPHA:33364
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Renal hypoplasia, Small thenar eminence, Joint contracture of the 4th finger, Join... OMIM:618914
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp... OMIM:614643
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Edema, Splenomegaly, Jaundice, Hepatos... OMIM:603553
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... ORPHA:47159
Srd5A3-Cdg
Elevated hepatic transaminase, Microcytic anemia ORPHA:324737
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Epidermal Nevus Syndrome
Rhabdomyosarcoma, Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Aortic a... ORPHA:35125
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, High-o... ORPHA:423
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Death in infancy, Respiratory distress, 4-hydroxyphenylacetic acid... OMIM:617156
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... ORPHA:230851
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb amyotrophy, Short stature, Gliosis, Abnormal morphology of musculature of pharynx ORPHA:280210
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia, Optic atrophy, Decreased fertility OMIM:234050
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Elevated hepatic transaminase, Pancytopenia, Epistaxis, Edema, Per... ORPHA:167
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Distal Renal Tubular Acidosis
Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne... ORPHA:18
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Respiratory failure, Death in infancy OMIM:610678
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Prolidase Deficiency
Abnormality of retinal pigmentation, Recurrent cystitis, White forelock ORPHA:742
Pure Mitochondrial Myopathy
Scapular winging, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhabdomyolysis, Proximal a... ORPHA:254854
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Rhabdomyolysis OMIM:602199
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Chorioretinal dysplasia, Short stature, Cryptor... ORPHA:534
Autosomal Recessive Spastic Paraplegia Type 11
Distal amyotrophy, Lower limb muscle weakness, Generalized limb muscle atrophy, Retinal degeneration ORPHA:2822
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Respiratory distress, Autoimmune hemolytic anemia, Psoriasiform de... ORPHA:37042
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Death in infancy, Posterolateral diaphrag... OMIM:613177
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Myelopathy, Bradypnea, Cervical myelopathy, Respiratory failure, Death in childhood,... OMIM:617186
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Stage 3 chronic kidney disease, Anemia, Enuresis, Type 2 muscle fiber pr... OMIM:619743
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Arterial dissection, Camptodactyly of finger, Arterial... ORPHA:284984
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Hypogonadotropic hypogona... OMIM:206900
Generalized Arterial Calcification Of Infancy
Respiratory distress, Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios... ORPHA:51608
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arteriovenous malformation, V... ORPHA:90307
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Flexion contracture, Abnormal aortic arch morphology, Hepatoblastoma, Atrial sept... ORPHA:96334
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Hepatitis, Anemia, Neutropenia, Thrombocytopenia ORPHA:47
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, First degree atrioventricular block, Cellular u... ORPHA:509
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Short stature, Dysmenorrhea, Increased sarcoplasmic glycogen, Irregular ... ORPHA:264580
Holocarboxylase Synthetase Deficiency
Respiratory distress, Organic aciduria, Tachypnea, Thrombocytopenia ORPHA:79242
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Hypertension, Microangiopathi... OMIM:235400
Rift Valley Fever
Elevated hepatic transaminase, Miscarriage, Hematemesis, Jaundice, Retinal hemorrhage, Hepatitis,... ORPHA:319251
Ring Chromosome 10 Syndrome
Microphthalmia, Intrauterine growth retardation, Renal hypoplasia/aplasia ORPHA:1438
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Immunodeficiency 22
Pericarditis, Capillary leak, Anemia, Decreased proportion of CD4-positive helper T cells, Ascite... OMIM:615758
Bohring-Opitz Syndrome
Retinal atrophy, Short stature, Facial hypotonia, Optic atrophy, Bilateral wrist flexion contract... ORPHA:97297
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Mitochondrial Dna-Associated Leigh Syndrome
Multiple glomerular cysts, Ragged-red muscle fibers, Optic atrophy, Lacticaciduria, Pigmentary re... ORPHA:255210
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Ventricular septal defect, Flexion contracture, Ascending tubular aorta aneurysm,... OMIM:309520
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... OMIM:609008
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, ... OMIM:187900
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Abnormality of the sp... ORPHA:2072
Vacterl With Hydrocephalus
Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal optic nerve morp... ORPHA:3412
Atypical Werner Syndrome
Abnormality of the Achilles tendon, Renal neoplasm, Abnormality of retinal pigmentation, Prematur... ORPHA:79474
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Optic atrophy, Renal cyst, ... OMIM:614866
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Growth delay, Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Short stature, Melanocytic nevus, M... ORPHA:1969
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... ORPHA:488627
Smith-Kingsmore Syndrome
Cryptorchidism, Umbilical hernia, Diastasis recti, Thrombocytopenia OMIM:616638
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Short stature OMIM:257910
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Proteinuria, Congenital diaphragmatic hernia, Cryptorchidism, ... ORPHA:2162
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Encephalocraniocutaneous Lipomatosis
Linear hyperpigmentation, Astrocytoma, Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Pe... OMIM:613001
Pagod Syndrome
Encephalocele, Death in infancy, Multicystic kidney dysplasia, Sudden cardiac death, Spina bifida... ORPHA:991
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Death in infancy, Neonatal respiratory distress... OMIM:619004
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Anemia, Facial paralysis, Thrombocytopenia OMIM:259700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasia, Muscula... OMIM:253280
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Bronchi... OMIM:150550
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormal heart valve morphology... ORPHA:77293
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... ORPHA:2526
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi... OMIM:123700
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Re... ORPHA:33001
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Stroke-like episode, Cardiomyopathy, Orthostatic hypotension ... OMIM:105210
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Hypertensive crisis, Anuria, Pneumonia, Edema, Myocarditis, Leukocytosis, Pancr... ORPHA:544482
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Camptodactyly, Knee flexion contracture OMIM:619694
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic lung disease, Chronic neutropenia, Pneumonia, ... OMIM:614700
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Exercise-induced rhabdomyolysis, Chronic kidney disease, Acute kidney injury, Exercise-induced my... ORPHA:284426
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Death in infancy, Death in childhood, Neutropenia, Hyperechogeni... OMIM:617941
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Hypoxemia, Sclerosing... OMIM:308230
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Thrombocytop... ORPHA:88
Mycophenolate Mofetil Embryopathy
Microphthalmia, Congenital diaphragmatic hernia, Chorioretinal coloboma, Ectopic kidney ORPHA:268249
Marfan Syndrome
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong... OMIM:154700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Proteinuria, Glycosuria ORPHA:263455
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Periorbital edema, Splenomegaly... OMIM:617591
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Prostatitis, Hematuria, Reti... ORPHA:900
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Costello Syndrome
Renal insufficiency, Ventricular septal defect, Polyhydramnios, Tracheomalacia, Rhabdomyosarcoma,... OMIM:218040
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Short stature, Abnormal retinal morphology, Optic atrophy, Nephrolithiasis, Prox... ORPHA:2785
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Long penis, Nephrolit... OMIM:135500
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Genera... OMIM:139210
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Vaginal hydrocele, Hematuri... ORPHA:2035
Methimazole Embryofetopathy
Ventricular septal defect, Hypospadias, Polyhydramnios, Coarctation of aorta, Abnormal aortic mor... ORPHA:1923
Postinfectious Vasculitis
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Orchitis, Hematuria, R... ORPHA:48435
Hamamy Syndrome
Prolonged QRS complex, Microcytic anemia, Complete atrioventricular canal defect, Cryptorchidism,... OMIM:611174
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Tachycardia, Hypertensive crisis, Proteinuria, Urinary incontinenc... ORPHA:94093
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Hypospadias, Repeated pneumothoraces, Congenital diaphragmatic hernia,... OMIM:617602
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Myopathy, Thrombocytopenia ORPHA:169090
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Elevated hepatic transaminase, Torticollis, Ventricular septal defect, Bicu... OMIM:619475
Digeorge Syndrome
Hypoplasia of the thymus, Hepatic steatosis, Patent ductus arteriosus, Chronic pulmonary obstruct... OMIM:188400
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Lymphedema, Patent ductus... ORPHA:487796
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Limb joint contracture, Optic disc pallor, Optic atrophy, Pigmentary retinopathy OMIM:617282
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myopathy, Myoglobinuria, Rhabdomyolysis, Red-brown urine ORPHA:228305
Infantile Krabbe Disease
Respiratory distress, Abnormal heart rate variability, Respiratory failure, Shoulder girdle muscl... ORPHA:206436
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia, Gen... OMIM:267700
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Usher Syndrome
Abnormality of retinal pigmentation, Myopathy, Decreased fertility ORPHA:886
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Dyspnea, Hepatitis, Melena, Leukopenia, Cough, L... ORPHA:319218
Osteogenesis Imperfecta, Type I
Aortic aneurysm, Thin skin, Mitral valve prolapse OMIM:166200
Marburg Hemorrhagic Fever
Nonproductive cough, Dehydration, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage... ORPHA:99826
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Neurogenic bladder, Skeletal muscle atrophy, ... ORPHA:496641
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Diastasis recti, Congenital diaphragmatic hernia, Renal hypoplasia/... ORPHA:2092
Beckwith-Wiedemann Syndrome
Ureteral duplication, Polyhydramnios, Cardiomegaly, Congenital diaphragmatic hernia, Leiomyosarco... ORPHA:116
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Rhabdomyosarcoma, Recurre... ORPHA:647
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Hypochromic microcytic anemia OMIM:301310
Meacham Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm... ORPHA:3097
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:164180
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure OMIM:620166
Parkinson Disease 1, Autosomal Dominant
Urinary urgency, Gliosis OMIM:168601
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... ORPHA:95455
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Peritonitis, Dehydr... ORPHA:90038
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia ORPHA:79096
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Periorbital edema, B lymphocytopenia, Decreased proportion of memory B c... OMIM:618048
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Rhabdomyolysis OMIM:145600
Dermatitis Herpetiformis
Edema, Microcytic anemia ORPHA:1656
X-Linked Dominant Chondrodysplasia Punctata
Short stature, Flexion contracture, Severe postnatal growth retardation, Microphthalmia, Hydronep... ORPHA:35173
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Impaired platelet aggregation, Abnor... OMIM:601399
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma, Hypopigmented skin patches ORPHA:1553
Glycogen Storage Disease Vii
Hematuria, Increased variability in muscle fiber diameter, Increased muscle glycogen content, Exe... OMIM:232800
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abno... ORPHA:536471
Letterer-Siwe Disease
Dyspnea, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Increased mean platelet volume, Impaired ADP-induced platelet aggregatio... OMIM:617443
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Cerebrotendinous Xanthomatosis
Optic disc pallor, Optic neuropathy, Abnormal retinal vascular morphology, Tendon xanthomatosis, ... ORPHA:909
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Leukopenia, Tubul... ORPHA:797
Tetrasomy 5P
Respiratory distress, Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculat... ORPHA:3309
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... OMIM:121050
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Anemia, Emphysema, Lymphopenia, Thrombocytopenia OMIM:620365
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Microphthalmia, Micropenis, Decreased testicular size, Right ventri... ORPHA:335
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
D-Bifunctional Protein Deficiency
Decreased muscle mass, Gliosis, Renal cyst OMIM:261515
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thrombocytopenia, Hemat... ORPHA:853
Larsen Syndrome
Ventricular septal defect, Tracheomalacia, Cryptorchidism, Atrial septal defect, Spina bifida occ... OMIM:150250
Congenital Disorder Of Deglycosylation 1
Facial hypotonia, Heparan sulfate excretion in urine, Intrinsic hand muscle atrophy, 3-Methylglut... OMIM:615273
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Growth delay, Microphthalmia ORPHA:77298
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Cryptorchidism, Mitral regurgitation, Aortic root aneurysm, Camptodact... OMIM:301039
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Leukocytosis, Cerebral edema, Thrombocytopenia ORPHA:83601
Hereditary Late-Onset Parkinson Disease
Spastic/hyperactive bladder, Gliosis, Hypomimic face ORPHA:411602
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Phthisis bulbi, Retinal nonattachment, Buphthalmos, Micr... OMIM:221900
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Meckel Syndrome, Type 2
Microphthalmia, Renal cyst, Intrauterine growth retardation OMIM:603194
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Pancytopenia, Aplastic anemia, Cryptorchidism, Urethral stenosis, Leukopenia,... OMIM:613990
Diamond-Blackfan Anemia 21
Aortic regurgitation, Secundum atrial septal defect, Erythroid hypoplasia, Anemia, Thrombocytopenia OMIM:620072
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Hand muscle weakness, Congesti... ORPHA:98908
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Death in infancy, Hypochromic microcytic anemia, Generalized amyotrophy, Death in c... OMIM:619423
Niemann-Pick Disease Type C
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Aplasia/Hypoplasia o... ORPHA:646
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Cryptorchidism, Severe intrauterine growth retardation, Microphthal... OMIM:241410
Wagro Syndrome
Aniridia, Nephroblastoma, Proteinuria, Decreased testicular size OMIM:612469
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... OMIM:139090
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Flexion contracture, Optic atrophy, Macular hypoplasia, Chorioretina... OMIM:147791
Steinfeld Syndrome
Microphthalmia, Unilateral renal dysplasia, Retinal coloboma OMIM:184705
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia, Pelvic kidney OMIM:617244
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... ORPHA:95459
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Malakoplakia
Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Urinary bladder inflammation,... ORPHA:556
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Fair hair, Retinal dystrophy, Short stature, Rhizomelia, Rod-cone dystrophy... OMIM:266920
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Rhizomelia ORPHA:93267
Poliomyelitis
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Hypoplasia of the mu... ORPHA:2912
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Hypochromic microcytic anemia, Mild proteinuria, Death in childhood, Anemia OMIM:619147
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Rhizomelia, Aplasia/Hypoplasia of the abdominal wall muscula... ORPHA:175
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Astrocytoma, Generalized hyperpigmentation, Proteinuria, Myopathy ORPHA:79086
Acute Adrenal Insufficiency
Normocytic anemia, Renal insufficiency, Orthostatic hypotension, Myocardial infarction, Decreased... ORPHA:95409
Dubowitz Syndrome
Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Hypoplasia of the iris,... OMIM:223370
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion contracture, Glycopepti... OMIM:230000
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Short stature, Skeletal muscle atrophy ORPHA:192
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis OMIM:608033
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Frontonasal Dysplasia 1
Microphthalmia, Pectoral muscle hypoplasia/aplasia, Joint contracture of the hand, Camptodactyly OMIM:136760
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Thenar muscle atrophy, Elbow... OMIM:612394
Spondyloenchondrodysplasia
Proteinuria, Short stature, Chronic kidney disease, Disproportionate short-trunk short stature, H... ORPHA:1855
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Renal agenesis, Hypospadias, Optic nerve hypoplasia, Short stature, Facial palsy, Renal hypoplasi... ORPHA:508498
Sotos Syndrome
Ureteral duplication, Flexion contracture, Pedal edema, Vesicoureteral reflux, Atrial septal defe... ORPHA:821
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Short stature, Abnormal foveal morphology, Opti... ORPHA:580
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Splenomegaly, Dyspnea, Renal cyst, Respiratory fai... OMIM:615636
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Prolonged QRS complex, Polyhydramnios, Supraventricular tachycardia, Foo... ORPHA:273
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Dyspnea, Xerostomia, Abnormal respiratory system physiology, Respiratory... ORPHA:803
Graves Disease, Susceptibility To, 1
Congestive heart failure OMIM:275000
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Severe short stature, Hypospadias, Optic nerve hypoplasia, Unilateral renal ag... ORPHA:468631
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Palpebral edema, Splenomegaly, Myocarditis, Vasculit... ORPHA:50918
Incontinentia Pigmenti
Telangiectasia of the skin, Eosinophilia, Camptodactyly of finger, Congestive heart failure, Reti... ORPHA:464
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Ehlers-Danlos Syndrome, Classic-Like, 2
Prominent superficial veins, Carotid artery stenosis, Cryptorchidism, Mitral valve prolapse, Aort... OMIM:618000
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Martin-Probst Syndrome
Renal insufficiency, Proteinuria, Short stature, Cryptorchidism, Chordee, Micropenis OMIM:300519
Baraitser-Winter Syndrome 2
Microphthalmia, Short stature OMIM:614583
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Short stature, Retinal vascular proliferation, Optic... OMIM:308300
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Palpebral edema, Microcytic anemia, Leukocytosis, Recurrent pneumonia... ORPHA:99843
Meckel Syndrome, Type 4
Microphthalmia, Renal cyst, Intrauterine growth retardation OMIM:611134
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Death in infancy, Hypoplasia of penis, Abnormal hemoglobin, Cryptorchidism, Flexion contracture, ... ORPHA:847
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:86818
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria, Limb muscle weakness, Skeletal muscle atrophy OMIM:612300
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Splenomegaly, Micronodular cirrhos... OMIM:301072
Opitz Gbbb Syndrome
Enlarged ovaries, Ventricular septal defect, Hypospadias, Tracheomalacia, Congenital diaphragmati... ORPHA:2745
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Intraventricular hemorrhage, Neonatal asphyxia, Recurrent... ORPHA:420741
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Res... OMIM:225400
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Short stature, Camptodactyly of finger, Heparan... ORPHA:217085
Immunodeficiency 10
Myopathy, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Buphthalmos, Retinal degeneration OMIM:618479
Hartsfield Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:2117
Nocardiosis
Respiratory distress, Pericarditis, Liver abscess, Abnormal heart valve morphology, Pneumonia, Pr... ORPHA:31204
Legionnaires Disease
Hematuria, Renal insufficiency, Proteinuria ORPHA:549
Radio-Renal Syndrome
Respiratory distress, Multicystic kidney dysplasia, Dyspnea, Respiratory failure, Chylothorax, Pl... ORPHA:3015
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Abnormality of the ureter, Biliary tract abnormality, ... OMIM:175200
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Short stature, Camptodactyly of finger, Heparan... ORPHA:217093
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hy... ORPHA:2330
Meckel Syndrome, Type 5
Microphthalmia, Renal cyst OMIM:611561
Restrictive Dermopathy
Ureteral duplication, Multiple joint contractures, Hypospadias, Dextrocardia, Polyhydramnios, Cam... ORPHA:1662
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Neutropenia, Decreased proportion... ORPHA:101096
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Neonatal respiratory distress, Diaphragmatic eventration, Ventricular septal defect... OMIM:620025
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Aciduria, Astrocytosis, 3-Methylglutaconic aciduria, Gliosis, Ethylmalonic aciduria OMIM:203700
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Elevated hepatic transaminase, Jaundice, Cerebral edema, Hepa... ORPHA:90062
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Glandular hypospadias,... OMIM:620306
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Scapular winging, Disproportionate short-trunk short stature... OMIM:272460
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hypotension, Arrhythmia, Hypermagnesi... ORPHA:428
Familial Bicuspid Aortic Valve
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Ocular albinism, Intrauterine growth retardation ORPHA:1352
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism OMIM:601349
Non-Functioning Pituitary Adenoma
Macroorchidism, Hypotension, Macroorchidism, postpubertal, Anemia of inadequate production ORPHA:91349
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Exertional dyspnea OMIM:250800
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Palpebral edema, Unilateral renal agenesis, Cardiac myxoma, Congestive heart... OMIM:181270
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder, Mucopolysaccha... ORPHA:349
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Cryptorchid... ORPHA:96191
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neu... OMIM:301078
Ivic Syndrome
Patent ductus arteriosus, Leukocytosis, Small thenar eminence, Pectoralis major hypoplasia, Tetra... OMIM:147750
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Short stature, Cryptorchidism, Penoscrotal transposition, Small thenar eminence, Cam... OMIM:619148
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Respiratory failure, Hypoplasia o... OMIM:617666
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Patent ductus... OMIM:617506
Kenny-Caffey Syndrome, Type 2
Papilledema, Severe short stature, Short stature, Retinal calcification, Microphthalmia OMIM:127000
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Hyperpigmented nevi, Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Apnea, Polyhydramnios, Rhabdomyosarcoma, Incr... ORPHA:1052
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Telangiectasia of the skin, Abnormality of neutrophils, T... ORPHA:1775
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Joint hemorrhage, Epistaxis, Thrombocytopenia OMIM:277480
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Short stature, Postnatal growth retardation, Bilateral microphthalmos, Retinal calci... ORPHA:93325
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Intrahe... ORPHA:97282
Stevenson-Carey Syndrome
Microphthalmia, Recurrent urinary tract infections, Joint contracture of the hand, Camptodactyly OMIM:611961
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Short stature, Facial palsy, Cryptorchidism, Enuresis nocturn... OMIM:615873
Cantú Syndrome
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... ORPHA:1517
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Urinary incontinence OMIM:618885
Geleophysic Dysplasia 3
Hepatomegaly, Pneumonia, Polyhydramnios, Dyspnea, Mitral regurgitation, Respiratory failure OMIM:617809
Meester-Loeys Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti... OMIM:300989
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Short stature, Irregular menstruation, Nephrolithiasis, Stage 5 chronic kidney disea... ORPHA:79259
Holocarboxylase Synthetase Deficiency
Tachypnea, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovaleric ... OMIM:253270
Recon Progeroid Syndrome
Thrombocytopenia, Thin skin, Anemia, Skeletal muscle atrophy OMIM:620370
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Quebec Platelet Disorder
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Astrocytoma, A... ORPHA:636
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Abnormal chorioretinal morpholo... ORPHA:564
Microphthalmia With Limb Anomalies
Anophthalmia, Unilateral cryptorchidism, Postnatal growth retardation, Growth delay, Camptodactyl... OMIM:206920
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Horseshoe kidney, ... ORPHA:99776
Dubowitz Syndrome
Hypospadias, Abnormality of neutrophils, Cryptorchidism, Asthma, Respiratory insufficiency, Acute... ORPHA:235
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Retinal pi... OMIM:607459
Diets-Jongmans Syndrome
Hypospadias, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Gliosis OMIM:618846
Mosaic Trisomy 1
Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture, Renal cortic... ORPHA:1692
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias OMIM:250790
21Q22.11Q22.12 Microdeletion Syndrome
Atrial septal defect, Thrombocytopenia, Anemia, Camptodactyly ORPHA:261323
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hyperphosphaturia ORPHA:89937
Familial Acute Necrotizing Encephalopathy
Gliosis ORPHA:88619
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Short stature, Cryptorchidism, Optic atrophy, Renal cyst, Multiple cafe-au-lait spot... OMIM:616975
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP... OMIM:608233
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Generalized amyotrophy, Thrombocytopenia, Limb hypertonia ORPHA:572798
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Gliosis OMIM:618321
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Anemia, Intestinal bleeding, Thin skin, Gastrointestinal telangiectasia, ... OMIM:612199
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Hy... OMIM:163950
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Blue Rubber Bleb Nevus
Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Thrombocytopenia OMIM:112200
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Testicular neoplasm, Fove... ORPHA:71505
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Hypot... OMIM:610443
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Mild proteinuria OMIM:619685
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Beemer-Ertbruggen Syndrome
Cryptorchidism, Respiratory insufficiency, Thrombocytopenia ORPHA:1237
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Pneumonia, Chronic pulmonar... ORPHA:125
Geleophysic Dysplasia 1
Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve... OMIM:231050
Charge Syndrome
Aortic arch aneurysm, Anophthalmia, Hypogonadotropic hypogonadism, Short stature, Facial palsy, P... ORPHA:138
Adenohypophysitis
Normochromic anemia, Hyposthenuria, Orthostatic hypotension ORPHA:95512
Say-Barber-Miller Syndrome
Short stature, Cryptorchidism, Optic atrophy, Elbow flexion contracture, Knee flexion contracture... ORPHA:3132
Acute Radiation Syndrome
Telangiectasia, Interstitial pneumonitis, Granulocytopenia, Hypotension, Lymphopenia, Thrombocyto... ORPHA:454831
Ehlers-Danlos Syndrome, Classic Type, 1
Umbilical hernia, Aortic root aneurysm, Recurrent sinusitis, Mitral valve prolapse OMIM:130000
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Cryptorchidism, Hypogonadism, Intrauterine growth retardation ORPHA:228390
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Short stature, Camptodactyly of finger, Postnatal growth ... OMIM:309000
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Micropenis, Short stature OMIM:602361
Retinoblastoma
Abnormality of retinal pigmentation, Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemo... ORPHA:790
Loeys-Dietz Syndrome
Cardiac arrest, Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Thin skin... ORPHA:60030
Monosomy 9Q22.3
Microphthalmia, Nephroblastoma, Retinopathy, Rhabdomyosarcoma ORPHA:77301
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy... OMIM:615745
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Otopalatodigital Syndrome, Type Ii
Hypospadias, Elbow contracture, Spina bifida, Cryptorchidism, Respiratory insufficiency, Respirat... OMIM:304120
Cyclic Neutropenia
Sinusitis, Cyclic neutropenia, Peritonitis, Decreased eosinophil count, Lymphopenia, Thrombocytop... ORPHA:2686
Chondrodysplasia Punctata 2, X-Linked Dominant
Postnatal growth retardation, Microphthalmia, Rhizomelia, Hydronephrosis OMIM:302960
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Facial hypotonia, Cryptorchidism, Distal arthrogryposis, Gliosis, I... ORPHA:506358
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Recurrent myoglobinuria OMIM:620300
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Epistaxis, Thrombocyto... OMIM:614074
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Panhypophysitis
Normochromic anemia, Hyposthenuria, Orthostatic hypotension ORPHA:95513
African Trypanosomiasis
Hepatomegaly, Pericarditis, Renal insufficiency, Abnormal EKG, Urinary incontinence, Miscarriage,... ORPHA:3385
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... ORPHA:158048
Pallister-Hall Syndrome
Renal dysplasia, Decreased testicular size, Hydroureter, Short stature, Distal urethral duplicati... OMIM:146510
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Pancytopenia, Testicular atrophy, Thrombocytopenia OMIM:613987
Microphthalmia With Limb Anomalies
Short stature, Cryptorchidism, Optic atrophy, Horseshoe kidney, Camptodactyly of 2nd-5th fingers,... ORPHA:1106
Chromosome 13Q14 Deletion Syndrome
Cryptorchidism, Growth delay, Chorioretinal coloboma, Microphthalmia, Micropenis, Retinoblastoma OMIM:613884
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Thrombocytopenia, Limb hypertonia ORPHA:457351
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Asthma, Giant platele... ORPHA:274
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Recurrent aspiration pneumonia, Increased nuchal translucency, Patent ductus arterio... ORPHA:280633
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Ménétrier Disease
Gastrointestinal hemorrhage, Peripheral edema, Hypochromic microcytic anemia ORPHA:2494
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Miscarriage, Thrombocytopenia ORPHA:96181
Progressive Supranuclear Palsy
Gliosis ORPHA:683
Sheehan Syndrome
Orthostatic hypotension, Normochromic anemia, Hyposthenuria, Palpitations, Bradycardia ORPHA:91355
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Short stature, Cryptorchidism, Bilateral microphthalmos, Macroglossia, Arthrogryposis-like hand a... ORPHA:369891
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Dyspnea, Bronchiectasis, Anemia, Cough, Thrombocytopenia ORPHA:169105
1P36 Deletion Syndrome
Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Camptoda... ORPHA:1606
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Apnea, Flexion contracture, Elbow flexion contracture, Respiratory failure, Arth... OMIM:617301
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Microphthalmia, Iris hypopigmentation ORPHA:284160
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Short stature ORPHA:3191
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation OMIM:300863
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Recurrent pneumonia, Decreased mean platelet volume, Hematochezia, Subconjunctival he... OMIM:617718
Carney Complex, Type 1
Cardiac myxoma, Congestive heart failure OMIM:160980
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Rhabdomyolysis, Hematuria, Tubulointerstitial nephritis, Acute k... ORPHA:90068
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Nonimmune hydrops fetalis, Anisocytosis, Edema, Splenomegaly, ... ORPHA:79277
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Joint contract... OMIM:263700
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Vesic... ORPHA:2059
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hypospadias, Hydronephrosis OMIM:616449
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, Webbed neck, Hepatic fi... ORPHA:99413
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, Webbed neck, Hepatic fi... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, Webbed neck, Hepatic fi... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, Webbed neck, Hepatic fi... ORPHA:881
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Macroglossia, Umbilical ... OMIM:618143
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
1Q21.1 Microdeletion Syndrome
Short stature, Cryptorchidism, Vesicoureteral reflux, Microphthalmia, Hydronephrosis, Intrauterin... ORPHA:250989
Yellow Fever
Shock, Renal insufficiency, Neutrophilia, Anuria, Elevated circulating aspartate aminotransferase... ORPHA:99829
Aicardi Syndrome
Retinal detachment, Postnatal growth retardation, Chorioretinal lacunae, Optic disc coloboma, Opt... OMIM:304050
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy ORPHA:1018
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension, Aortic root aneurysm, Thin skin, Mitral valve prolapse ORPHA:449291
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616395
Aymé-Gripp Syndrome
Proteinuria, Short stature, Congenital diaphragmatic hernia, Postnatal growth retardation, Crypto... ORPHA:1272
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Sinus tachycardia, Crackles, Hypocapnia, Hepatic failure, Tachypnea, Rhabd... ORPHA:466650
Monosomy 18P
Microphthalmia, Short stature ORPHA:1598
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu... OMIM:616652
Agel Amyloidosis
Facial palsy, Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Teebi-Shaltout Syndrome
Ureteral stenosis, Short stature, Horseshoe kidney, Camptodactyly, Microphthalmia, Hydronephrosis OMIM:272950
Beck-Fahrner Syndrome
Facial hypotonia, Ventricular septal defect, Cardiomegaly OMIM:618798
3Q29 Microdeletion Syndrome
Abnormality of skin pigmentation, Microphthalmia, Hypospadias, Horseshoe kidney ORPHA:65286
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hepatoblastoma, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplas... OMIM:130650
Frontofacionasal Dysplasia
Brushfield spots, Microphthalmia, Short stature ORPHA:1791
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Respiratory failure, Patent urachus, Death in childhood OMIM:618252
Glucagonoma
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Acanthocytosis, Intrahepatic... ORPHA:97280
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Limb hypertonia, HbH hemoglobin, Prolonged neonatal jaundice ORPHA:423479
Boudin-Mortier Syndrome
Aortic root aneurysm, Mitral valve prolapse OMIM:619543
Classic Homocystinuria
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation ORPHA:394
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Short stature, Iris transillumination defect, Generalized hypopigmentation OMIM:617306
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Hydrocele testis OMIM:145420
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Transient ischemic attack, Unilateral renal agenesis, Patent ductus arteriosu... ORPHA:500150
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Hypospadias, Short sta... OMIM:300166
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Optic atrophy OMIM:618727
Fibular Hemimelia
Spina bifida, Thrombocytopenia, Abnormal heart morphology ORPHA:93323
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Rena... ORPHA:2538
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:3322
2Q31.1 Microdeletion Syndrome
Short stature, Camptodactyly of finger, Cryptorchidism, Optic disc coloboma, Microphthalmia ORPHA:251014
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Macular degeneration, Abnormal fundus morphology ORPHA:94147
Momo Syndrome
Bilateral microphthalmos, Short stature, Chorioretinal coloboma ORPHA:2563
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation ORPHA:163966
Monosomy 22
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly, Joint swelling, Contrac... ORPHA:96123
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Thrombocytopenia OMIM:616937
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Decrea... ORPHA:744
Pituitary Apoplexy
Hypertension, Normochromic anemia, Hypotension ORPHA:95613
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Cryptorchidism, Urethral stenosis, H... OMIM:305000
Fetal Alcohol Syndrome
Microphthalmia, Short stature, Congenital diaphragmatic hernia, Intrauterine growth retardation ORPHA:1915
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux OMIM:619377
Cousin Syndrome
Rhizomelia, Disproportionate short stature, Camptodactyly, Microphthalmia, Joint contracture of t... OMIM:260660
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Pseudotrisomy 13 Syndrome
Renal agenesis, Cryptorchidism, Renal hypoplasia, Microphthalmia, Micropenis OMIM:264480
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Short stature, Unilateral microphthalmos, Macroorchidism, Cafe-au-lait spot OMIM:618874
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cryptorchidism, Short stature, Congenital diaphragmatic hernia OMIM:612530
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Heart And Brain Malformation Syndrome
Growth delay, Microphthalmia, Camptodactyly of finger, Limb hypertonia OMIM:616920
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Foot joint contracture, Glomerulonephritis, Dilated card... ORPHA:79408
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, Optic disc coloboma, Ureteral ag... ORPHA:141099
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Pericardial effusion, Cryptorchidism, Prominent veins on trunk, Mitral v... ORPHA:536532
Fanconi Anemia, Complementation Group S
Microphthalmia, Short stature OMIM:617883
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hypochromic anemia ORPHA:2720
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Growth delay, Microphthalmia, Micropenis, Cafe-au-la... OMIM:614083
Osteoporosis-Pseudoglioma Syndrome
Short stature, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, M... OMIM:259770
Tick-Borne Encephalitis
Elevated hepatic transaminase, Skeletal muscle atrophy, Facial palsy, Leukocytosis, Leukopenia, A... ORPHA:297
Hallermann-Streiff Syndrome
Proportionate short stature, Cryptorchidism, Optic disc coloboma, Chorioretinal coloboma, Microph... OMIM:234100
Hypermobile Ehlers-Danlos Syndrome
Apnea, Venous insufficiency, Cystocele, Aplasia/Hypoplasia of the abdominal wall musculature, Asc... ORPHA:285
Holoprosencephaly 9
Anophthalmia, Short stature, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis OMIM:610829
Marfanoid-Progeroid-Lipodystrophy Syndrome
Scapular winging, Mitral valve prolapse, Hypertension, Aortic root aneurysm, Oligohydramnios OMIM:616914
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, P... OMIM:182250
X Small Rings
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Oligohyd... ORPHA:96201
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Ventricular septal defect, Mitral regurgitation, Aortic ... OMIM:615582
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Optic atrophy, Short stature OMIM:201180
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism ORPHA:404440
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Premature Aging Syndrome, Penttinen Type
Microphthalmia, Joint contracture, Flexion contracture of finger, Hypermyelinated retinal nerve f... OMIM:601812
Familial Mediterranean Fever
Proteinuria, Orchitis, Nephrocalcinosis, Nephrotic syndrome, Nephropathy ORPHA:342
Hydrolethalus
Microphthalmia, Cryptorchidism, Anophthalmia ORPHA:2189
Focal Dermal Hypoplasia
Ureteral duplication, Linear hyperpigmentation, Anophthalmia, Short stature, Diastasis recti, Con... OMIM:305600
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Plummer-Vinson Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia ORPHA:54028
Branchiooculofacial Syndrome
Anophthalmia, Renal agenesis, Hypospadias, Facial palsy, Postnatal growth retardation, Cryptorchi... OMIM:113620
Roberts Syndrome
Progressive flexion contractures, Postnatal growth retardation, Cryptorchidism, Long penis, Knee ... ORPHA:3103
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Ear-Patella-Short Stature Syndrome
Respiratory distress, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Epispadias, Cryp... ORPHA:2554
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Male urethral meatus stenosis, Microphthalmia, Hydronephrosis, Contracture of the pr... ORPHA:464738
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Thrombocytopenia OMIM:224230
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Polyhydramnios, Cardiomegaly, Cryptorchidism, Increased n... ORPHA:3472
Hallermann-Streiff Syndrome
Cryptorchidism, Congestive heart failure, Respiratory insufficiency, Abdominal situs inversus, Tr... ORPHA:2108
Trichothiodystrophy 1, Photosensitive
Freckling, Short stature, Flexion contracture, Hypogonadism, Microphthalmia OMIM:601675
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Proteinuria, Pneumonia, Enlarged polycystic ovaries, Biliary cirrhosis, Leukope... ORPHA:2298
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... ORPHA:91347
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation ORPHA:2399
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... OMIM:612474
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Gliosis OMIM:607485
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
3P25.3 Microdeletion Syndrome
Microphthalmia, Skeletal muscle atrophy, Knee flexion contracture ORPHA:435638
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphthalmia OMIM:616300
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Arterial dissection, Arterial rupture, Mitral valve prolapse, Bladder di... ORPHA:287
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Aortic root aneurysm, Retinal vascular malformation, Micro... ORPHA:42775
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Anasarca, Exocrine pancreatic insufficiency OMIM:260450
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Hypospadias, Flexion contracture, Generalized limb muscle atrophy, Aortic root aneurysm, Chordee,... OMIM:618891
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Alström Syndrome
Respiratory distress, Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of ... ORPHA:64
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Irregular menstruation, Microphthalmia, Amen... OMIM:110100
Charge Syndrome
Anophthalmia, Renal agenesis, Hypogonadotropic hypogonadism, Facial palsy, Postnatal growth retar... OMIM:214800
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu... ORPHA:2463
Ohdo Syndrome, X-Linked
Microphthalmia, Cryptorchidism, Micropenis, Cafe-au-lait spot OMIM:300895
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... OMIM:233450
Orofaciodigital Syndrome I
Short stature, Proteinuria, Polycystic kidney dysplasia OMIM:311200
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia, Short stature OMIM:147250
Rodrigues Blindness
Microphthalmia, Short stature OMIM:268320
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Left ventricular hypertrophy, Ketonuria, Hypospadias, Gliosis OMIM:220111
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Rhizomelia, Anophthalmia, Hypospadias OMIM:615877
Somatostatinoma
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Intrahepatic cholestasis, Hy... ORPHA:97283
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Microphthalmia, Short stature ORPHA:1806
Ramon Syndrome
Optic disc pallor, Short stature, Pigmentary retinopathy OMIM:266270
Ivic Syndrome
Leukocytosis, Arrhythmia, Thrombocytopenia ORPHA:2307
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy, Dyspnea... ORPHA:79138
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Meckel Syndrome 14
Microphthalmia, Polycystic kidney dysplasia OMIM:619879
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis ORPHA:2750
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine pancreatic in... OMIM:269200
Relapsing Polychondritis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:728
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Buphthalmos, Skeletal muscle hypertrophy, Congeni... OMIM:613150
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Cryptorchidism, Hypogonadism, Microphthalmia ORPHA:2250
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Joint contracture of the 5th finger OMIM:620098
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria OMIM:194380
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Facial hypotonia OMIM:614526
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Decreased mean platelet volume OMIM:273900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Hemoglobinuria OMIM:300908
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Mitochondrial Complex I Deficiency, Nuclear Type 2
Gliosis OMIM:618222
Bartsocas-Papas Syndrome 1
Ectopic kidney, Bilateral cryptorchidism, Flexion contracture, Microphthalmia, Micropenis, Arthro... OMIM:263650
Fryns Syndrome
Ureteral duplication, Renal agenesis, Hypospadias, Cryptorchidism, Renal cyst, Aplasia of the lef... OMIM:229850
Microphthalmia, Syndromic 6
Anophthalmia, Retinal dystrophy, Female hypogonadism, Cryptorchidism, Renal hypoplasia, Microphth... OMIM:607932
Carney Complex
Neoplasm of the pancreas, Testicular neoplasm, Hepatocellular carcinoma, Cardiac myxoma, Congesti... ORPHA:1359
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal localization... ORPHA:2166
Thrombocytopenia 1
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Conge... OMIM:313900
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia, Intrauterine growth retardation OMIM:613451
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hypospadias, Optic disc hypoplasia, Hypogonadotropic hypogona... ORPHA:3455
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Iron deficiency anemia, Increased urinary type 1 collagen N-terminal telopeptide level ORPHA:93315
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Short stature, Abnormality of the kidney, Unilateral ren... ORPHA:508488
Au-Kline Syndrome
Cryptorchidism, Chronic kidney disease, Lipomyelomeningocele, Hypertension, Aortic root aneurysm,... OMIM:616580
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Short stature, Facial palsy, Optic disc coloboma, Hydrocele testis, Right ventricular hypertrophy... OMIM:620186
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Hepatoblastoma, Iron deficiency anemia, Intestinal bleeding, Airway obstruction ORPHA:261584
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalize... OMIM:614437
Monosomy 13Q14
Microphthalmia, Retinoblastoma, Short stature, Intrauterine growth retardation ORPHA:1587
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphthalmia, M... OMIM:603457
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Short stature OMIM:257850
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Camptodactyly of finger, Cryptorchidism, Abnormality o... OMIM:249000
Supranuclear Palsy, Progressive, 1
Gliosis, Retrocollis, Astrocytosis OMIM:601104
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Torticollis, Hypospadias, Cryptorchidism, Horseshoe kidney, Knee flexion contracture, Microphthal... OMIM:609945
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Dyspnea, Cryptorchidism, Respiratory failure, Hydronephrosis ORPHA:2636
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm, Joint contracture, Respiratory insufficiency OMIM:615349
Monosomy 9P
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Microphthalmia, Ureteropelvic junct... ORPHA:261112
Mowat-Wilson Syndrome
Hypospadias, Abnormality of the kidney, Short stature, Cryptorchidism, Generalized muscle hypertr... OMIM:235730
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Leukocytosis, Hypochromic anemia OMIM:618213
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Lower limb muscle weakness, Polyuria OMIM:606721
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Palpebral edema, Facial edema, Retroperitoneal fibrosis, Xerostomia, Tubulointerstitial... ORPHA:79078
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Ulbright-Hodes Syndrome
Abnormal penis morphology, Respiratory distress, Cryptorchidism, Pneumothorax, Renal hypoplasia, ... ORPHA:3404
Renpenning Syndrome 1
Hypospadias, Short stature, Phimosis, Renal hypoplasia, Camptodactyly, Microphthalmia, Joint cont... OMIM:309500
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Edema, Exocrine pancreatic insufficiency ORPHA:309031
Skin Creases, Congenital Symmetric Circumferential, 2
Short stature, Hypospadias, Cryptorchidism, Ureterocele, Microphthalmia OMIM:616734
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia, Camptodactyly of toe ORPHA:251038
Neuroocular Syndrome
Hypoplasia of the fovea, Scapular winging, Remnants of the hyaloid vascular system, Short stature... OMIM:619539
Microphthalmia, Syndromic 1
Hydroureter, Hypospadias, Anophthalmia, Renal hypoplasia/aplasia, Cryptorchidism, Optic disc colo... OMIM:309800
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Microcephaly-Micromelia Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:251230
Oculodentodigital Dysplasia
Microphthalmia, Neurogenic bladder, Joint contracture of the 5th finger OMIM:164200
Supranuclear Palsy, Progressive, 2
Gliosis, Retrocollis OMIM:609454
Rothmund-Thomson Syndrome, Type 2
Short stature, Cryptorchidism, Premature graying of hair, Hypogonadism, Microphthalmia OMIM:268400
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Short... ORPHA:2152
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Cafe-au-lait spot, Intrauterine growth retardation ORPHA:364577
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell count, Decreas... OMIM:301074
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, Homocystinuria OMIM:601552
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Ecto... OMIM:607872
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal arteriolar tortuosity, Retinal hemorrhage, Hypoplasia of the iris, Peripapillary atrophy,... OMIM:175780
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Short stature, Cryptorchidism, F... ORPHA:261537
Frontorhiny
Microphthalmia, Camptodactyly of finger ORPHA:391474
Mend Syndrome
Short stature, Cryptorchidism, Spotty hypopigmentation, Microphthalmia, Limb hypertonia ORPHA:401973
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela... ORPHA:79280
Treacher-Collins Syndrome
Microphthalmia, Cryptorchidism, Hypoplasia of penis ORPHA:861
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia, Irregular hyperpigmentation, Melanocytic nevus ORPHA:2612
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Tetraamelia Syndrome 1
Microphthalmia, Urethral atresia, Renal agenesis, Congenital diaphragmatic hernia OMIM:273395
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cryptorchidism, Proteinuria OMIM:616682
Friedreich Ataxia 2
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... OMIM:601992
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Short stature, Cryptorchidism, F... ORPHA:261552
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia, Micropenis OMIM:617925
Pmm2-Cdg
Multiple joint contractures, Proteinuria, Hypogonadotropic hypogonadism, Nephrotic syndrome, Mult... ORPHA:79318
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Anophthalmia, Cryptorchidism, Ren... ORPHA:2052
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Hyperpigmented streaks OMIM:300952
Roberts-Sc Phocomelia Syndrome
Hypospadias, Ankle flexion contracture, Postnatal growth retardation, Cryptorchidism, Long penis,... OMIM:268300
Pallister-Hall Syndrome
Decreased testicular size, Hypospadias, Short stature, Unilateral renal agenesis, Ectopic kidney,... ORPHA:672
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Hydrolethalus Syndrome 1
Hypospadias, Microphthalmia, Agenesis of the diaphragm, Hydronephrosis, Intrauterine growth retar... OMIM:236680
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Camptodactyly of finger ORPHA:1236
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Witteveen-Kolk Syndrome
Unilateral cryptorchidism, Hypospadias, Short stature, Phimosis, Congenital diaphragmatic hernia,... OMIM:613406
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:3186
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Neu-Laxova Syndrome 1
Renal agenesis, Cryptorchidism, Camptodactyly, Microphthalmia, Joint contracture of the hand, Int... OMIM:256520
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Fraser Syndrome 1
Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Bilateral microphthalmos, Re... OMIM:219000
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Holoprosencephaly 2
Microphthalmia, Remnants of the hyaloid vascular system, Chorioretinal coloboma OMIM:157170
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Cafe-au-lait spot, Intrauterine growth retardation OMIM:608670
Holoprosencephaly 1
Microphthalmia, Micropenis, Short stature OMIM:236100
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos OMIM:610828
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Hypoplasia of facial musculature, Ect... OMIM:164210
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger ORPHA:306542
Isolated Arrhinia
Microphthalmia ORPHA:1134
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos OMIM:154500
Meningioma
Papilledema, Hypogonadotropic hypogonadism, Urinary incontinence, Facial palsy, Upper limb muscle... ORPHA:2495
Dermatofibrosarcoma Protuberans
ORPHA:31112
Meningioma, Familial, Susceptibility To
OMIM:607174
Basal Ganglia Calcification, Idiopathic, 5
OMIM:615483

Histopathology

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

There is no histopathology data for Pdgfb

IMPC related publications

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

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

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MGI Allele Allele Type Produced
Pdgfbtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pdgfbtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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