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Gene: Bsg MGI:88208

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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:
basigin
Synonyms:
EMMPRIN,  gp 42,  neurothelin,  CD147,  HT-7,  5A11/Basigin

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 Bsg mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... OMIM:614420
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Immunodeficiency, Common Variable, 6
Hepatomegaly, Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thro... OMIM:613496
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p... OMIM:613779
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... OMIM:615559
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, External genital hypoplasia, Obesity, Hyp... OMIM:615993
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Dyspnea, Elevated b... OMIM:619611
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... ORPHA:329918
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulat... OMIM:275400
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Reni Syndrome
Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Mesangial hypercellu... OMIM:617575
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci... OMIM:608709
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... ORPHA:133
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:3363
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... OMIM:256300
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Bardet-Biedl Syndrome 4
External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal d... OMIM:615982
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati... OMIM:615285
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Pneumocystosis
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... ORPHA:723
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
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
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla... OMIM:619858
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaundice, Renal cyst, Hepatosplenom... OMIM:619902
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Antinuclear an... OMIM:616414
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... OMIM:618348
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Hyperprolinemia Type 1
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria ORPHA:419
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa, External genital hypoplasia OMIM:268010
Galactosemia I
Hemolytic anemia, Hepatomegaly, Increased level of galactitol in plasma, Albuminuria, Aminoacidur... OMIM:230400
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG... ORPHA:2137
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Spermatogenic Failure 17
Male infertility OMIM:617214
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Splenomegaly, Recurrent pneumonia, Optic atrophy, Restrictive ventilator... OMIM:602271
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thromb... OMIM:102700
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasa... OMIM:300991
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... OMIM:614377
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Stt3B-Cdg
Cerebellar atrophy, Respiratory distress, Small scrotum, Cryptorchidism, Optic atrophy, Micropeni... ORPHA:370924
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Autoimmunity, Lymphocytosis, Microscopic hematuria, Hepatic steatosis ORPHA:79087
Congenital Disorder Of Glycosylation, Type Ix
Cerebellar atrophy, Respiratory distress, Small scrotum, Cryptorchidism, Optic atrophy, Micropeni... OMIM:615597
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Recurrent respiratory infections, Lymphocytic interstitial pneumonia, Splenomegaly,... OMIM:618495
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Cardiomegaly, Antinuclear antibody ... ORPHA:99931
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s... OMIM:618999
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Dyspnea, Myocarditis, H... ORPHA:139402
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... OMIM:616433
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... ORPHA:730
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Igg4-Related Kidney Disease
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Renal intersti... ORPHA:449395
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hy... OMIM:620010
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody... ORPHA:93126
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N... OMIM:105200
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiecta... OMIM:612444
Young Syndrome
Recurrent sinopulmonary infections, Bronchiectasis, Azoospermia, Congenital pulmonary airway malf... OMIM:279000
Bardet-Biedl Syndrome 2
Diabetes mellitus, External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retina... OMIM:615981
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Eczema, Thrombocytopenia, Increase... OMIM:304790
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Maculo... OMIM:619644
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... ORPHA:84090
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... ORPHA:3261
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Absent inner d... OMIM:613807
Ciliary Dyskinesia, Primary, 41
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... OMIM:618449
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... ORPHA:50251
Nephrotic Syndrome, Type 22
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... OMIM:619155
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Morm Syndrome
Truncal obesity, Micropenis, Retinal atrophy, Retinal dystrophy ORPHA:75858
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Ciliary Dyskinesia, Primary, 34
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... OMIM:617091
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Sta... OMIM:614376
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia ORPHA:2134
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... ORPHA:567546
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... OMIM:615382
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Ciliary Dyskinesia, Primary, 18
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Chronic bronchitis, Ab... OMIM:614874
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Tubuloin... ORPHA:37042
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... OMIM:614455
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity OMIM:216950
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Hepa... OMIM:615952
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... OMIM:602088
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr... ORPHA:100024
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Ciliary Dyskinesia, Primary, 45
Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein... OMIM:618801
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis,... OMIM:620197
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Diabetes mellitus, Cryptorchidism, Optic atrophy, Retinal degeneration OMIM:249270
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia... ORPHA:470
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:603909
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Absent inner a... OMIM:606763
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased HDL cholester... OMIM:245900
Preeclampsia
Proteinuria, Abnormality of the kidney, Autoimmunity, Chronic kidney disease, Elevated circulatin... ORPHA:275555
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... ORPHA:85445
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Infe... OMIM:615872
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... OMIM:614878
Diethylstilbestrol Syndrome
Central apnea, Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestatio... ORPHA:1916
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Autoimmunity, Anti-acetylch... ORPHA:99867
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity, Discoid ... ORPHA:536
Hyperleucine-Isoleucinemia
Failure to thrive, Retinal degeneration OMIM:238340
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Failure to thri... OMIM:608971
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:601859
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ... ORPHA:443811
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy ORPHA:404451
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Cerebellar atrophy, Testicular atrophy ORPHA:276183
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis, Anemia ORPHA:375
Primary Ciliary Dyskinesia
Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility, Neonatal respiratory d... ORPHA:244
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Cough, Abnorm... ORPHA:77260
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... OMIM:263000
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia OMIM:602079
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Senior-Loken Syndrome 9
Retinal dystrophy, Obesity, Cholestasis, Macular degeneration, Tubulointerstitial nephritis, Hypo... OMIM:616629
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... ORPHA:91139
Spinocerebellar Ataxia 32
Cerebellar atrophy, Azoospermia, Testicular atrophy, Infertility OMIM:613909
Ciliary Dyskinesia, Primary, 37
Female infertility, Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia OMIM:230350
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Premature ovarian insufficiency, Hypospadias, Decreased response t... ORPHA:96179
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... ORPHA:839
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Anemia ORPHA:2668
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating C-reactive protein concentratio... OMIM:614034
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Proteinuria, Autoimmunity, Minimal change glomerulonephritis, Thrombocytopenia, Hype... ORPHA:1830
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspne... OMIM:613490
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipi... OMIM:232220
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... OMIM:615500
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Myotonic Dystrophy 1
Respiratory distress, Cerebral atrophy, Facial diplegia, Hypogonadism, Cholelithiasis, Testicular... OMIM:160900
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Splenomegaly, Eczematoid dermatitis, F... OMIM:269840
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Interstitial pneumonitis ORPHA:231154
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Eosi... ORPHA:400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... ORPHA:264675
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autoflu... OMIM:204500
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... ORPHA:251004
Ceroid Lipofuscinosis, Neuronal, 3
Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme... OMIM:204200
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Respiratory distress, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchi... OMIM:300219
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab... ORPHA:85443
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Abnormal anterior horn cell morphology, Cryptorchidism, Respiratory insuffi... ORPHA:1145
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, El... ORPHA:90291
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Reduced forced vital capacity, Mitochondrial... OMIM:619518
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:617729
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria, Hypoalbuminemia OMIM:614652
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Neutropenia, Anem... OMIM:617303
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:614322
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Diabetes mellitus, Retinal dystrophy, Aganglionic megaco... OMIM:209900
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Ab... OMIM:613808
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... OMIM:617056
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... OMIM:300555
Ceroid Lipofuscinosis, Neuronal, 1
Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macular degenera... OMIM:256730
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Lupus anticoagulant, Nephritis, Lymphadenopathy, Nephrotic syndrome, Microa... ORPHA:93552
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein... OMIM:614935
Idiopathic Bronchiectasis
Crackles, Productive cough, Cachexia, Dyspnea, Wheezing, Respiratory tract infection, Abnormal re... ORPHA:60033
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Abnormality ... ORPHA:2035
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Proteinuria, Rheumatoid factor positive, Autoimmunity, Anti... ORPHA:90060
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Eosinophi... OMIM:615816
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Decreased na... OMIM:612649
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Follicular hyperplasia, Autoimmune th... OMIM:614470
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... ORPHA:54057
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Cryptorchidism, Abnormality of pattern visual evoked potenti... ORPHA:166035
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Hepatomegaly, Hypoventilation, Apnea, ... ORPHA:79330
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive, Hypospadias OMIM:300934
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp... OMIM:235200
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacc... OMIM:215250
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Retinal detachment, Small scrotum, Hypospadias, Small for gestational age, ... OMIM:607143
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Dyskeratosis Congenita, Autosomal Dominant 1
Dyspnea, Hepatic necrosis, Interstitial pneumonitis, Pulmonary fibrosis, Cirrhosis OMIM:127550
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma ORPHA:882
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Hypog... OMIM:615994
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Hepatomegaly, Respiratory distress, Optic atrophy, Hypogonadism, Rod-cone dys... ORPHA:254913
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... ORPHA:36234
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Renal insufficiency, Hy... ORPHA:650
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Premature Ovarian Failure 13
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Brucellosis
Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,... ORPHA:1304
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... ORPHA:48435
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Irregular menstruation, Obesity, Truncal obesity, Rod-co... OMIM:615986
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Hyperlipidemia, Nephrolithiasis, Gout, Focal... OMIM:232200
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Congenit... ORPHA:8
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... OMIM:276700
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormali... ORPHA:254864
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... ORPHA:79127
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... OMIM:618852
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatic steatosis, Failure to thrive, Optic atrophy ORPHA:26792
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... OMIM:208540
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration OMIM:160010
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612925
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Retinal atrophy, Apnea, Increased neuronal autofluorescent lipopigment, Rod-c... OMIM:610127
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Recurrent respiratory infectio... ORPHA:329178
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria, Megaloblastic anemia OMIM:261100
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir... OMIM:616974
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... OMIM:251300
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Papa Syndrome
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Lymphadenopathy, Arthritis... ORPHA:69126
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Optic atrophy, Abnormal mitochondrial morphology, Retinal degeneration OMIM:300438
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612926
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria ORPHA:225
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Recurrent bronchopulmonary infections ORPHA:85334
Perching Syndrome
Respiratory distress, Rod-cone dystrophy OMIM:617055
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612924
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Decreased nasal nitric oxide, Abdominal situs inversus, Cough, Recurrent otitis... OMIM:619607
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Respiratory insufficiency due ... OMIM:613561
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Infertility, ... OMIM:613193
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Glycogen Storage Disease Xi
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Tubulointerstitial nephritis... ORPHA:289390
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Retinal atrophy, Corpus callosum atrophy, Hypothyroidism, Iridocyclitis, Hypo... ORPHA:412057
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Immunodeficiency 27A
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi... OMIM:209950
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight OMIM:300580
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Mediastinal lymp... ORPHA:91138
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node germinal cen... ORPHA:277
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Ab... OMIM:618063
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... OMIM:614399
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Alg6-Cdg
Puberty and gonadal disorders, Rod-cone dystrophy, Jaundice, Increased circulating androgen conce... ORPHA:79320
Stuve-Wiedemann Syndrome 2
Respiratory distress, Eczema, Stillbirth, Neonatal death, Pulmonary arterial hypertension OMIM:619751
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Proteinuria, Abnormality of the kidney, Hyperlipidemia, Portal fibrosis, Hepatic fi... ORPHA:369
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas OMIM:134610
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency, Common Variable, 2
Hepatomegaly, Autoimmunity, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiect... OMIM:240500
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hep... OMIM:615415
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Cryptorchidism, Albuminuria, Aminoaci... OMIM:214100
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Nephronophthisis 15
Elevated hepatic transaminase, Obesity, Retinal degeneration OMIM:614845
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Myh9-Related Disease
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Autoimmunity, Skin ... ORPHA:36412
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentrat... OMIM:618886
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... OMIM:308700
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Moebius Syndrome
Respiratory distress, Hypogonadotropic hypogonadism, Facial diplegia, Micropenis, Decreased testi... OMIM:157900
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Jaundice, Nephroc... OMIM:613404
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... OMIM:267450
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Majeed Syndrome
Glomerulopathy, Hepatomegaly, Inflammatory abnormality of the skin, Proteinuria, Acne, Osteomyeli... ORPHA:77297
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Activated Pi3K-Delta Syndrome
Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymph... ORPHA:397596
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration... OMIM:618963
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... ORPHA:254875
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Respiratory distress, Cryptorchidism, Abnormality of the pancreas, Optic atrophy, ... ORPHA:1555
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis ORPHA:454831
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Elevated circu... OMIM:613011
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic ... OMIM:613845
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Cr... ORPHA:210136
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Autoimmunity, Eczema, Mediastinal lymphadenopathy, Autoimmune antibody p... ORPHA:79128
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Splenomegaly, Patent ductus ar... OMIM:608799
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Chorioretinal dystrophy, Dyspnea, Optic atrophy, Respiratory failure, Abnor... ORPHA:2707
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Elevated hepatic transaminase, Retinal atrophy,... OMIM:617406
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Classic Galactosemia
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... ORPHA:79239
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransf... OMIM:615595
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Apnea, Episodic tachypnea, Cerebral atrophy, Pigmentary re... ORPHA:79264
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... OMIM:608647
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... OMIM:610205
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Optic atrophy, Cerebral atrophy, Pigmentar... OMIM:222300
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Autoimmunity, Splenomegaly, Lymphadenopathy ORPHA:56425
Free Sialic Acid Storage Disease
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Ascites ORPHA:834
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Decreased serum insulin-like growth factor 1, Eczema, Cryptorchidism, Recurren... ORPHA:314389
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... OMIM:607594
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... OMIM:613101
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Cerebral cortical atrophy, Increased neuronal autofluorescent lipopigment, Re... OMIM:256731
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Oliguria, Renal ... ORPHA:97362
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Autoimmune antibody positivity, Renal tubular ... ORPHA:99885
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Cryptorchidism, Nephrotic syndrome, Nephropathy, Anemia ORPHA:1192
Cryptococcosis
Respiratory distress, Osteomyelitis, Abnormal retinal morphology, Pneumonia, Nodular pattern on p... ORPHA:1546
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... OMIM:308750
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary... ORPHA:2414
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, A... OMIM:616026
Goodpasture Syndrome
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... OMIM:233450
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Hepatomegaly, Elevated circulating creatine kinase con... OMIM:608836
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Macular atrophy, Productive cough, Bronchiectasis, Decreased nasal nitric oxid... OMIM:615434
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce... OMIM:618935
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive ORPHA:91130
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Kaposiform Lymphangiomatosis
Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic system, Hepatosple... ORPHA:464329
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Cachexia, Weight loss OMIM:612075
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Obesity, Macular degeneration, Cerebral cortica... OMIM:604360
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Glycogen Storage Disease V
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:232600
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abn... OMIM:612387
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr... OMIM:607426
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration OMIM:520000
Mucolipidosis Iv
Cerebellar atrophy, Optic atrophy, Hypergastrinemia, Retinal degeneration OMIM:252650
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Succinic Acidemia
Respiratory distress OMIM:600335
Malaria
Respiratory distress, Retinopathy ORPHA:673
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Thrombocytopenia, Leukocytosis, Chronic kidne... ORPHA:340
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minor... ORPHA:2510
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... OMIM:613388
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... OMIM:616188
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Asplenia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Imm... OMIM:244400
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Elevated circulating C-rea... ORPHA:85414
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly,... OMIM:619487
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Nonproductive c... ORPHA:454836
Legionnaires Disease
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Jaundice, Myocarditis... ORPHA:549
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Werner Syndrome
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul... OMIM:277700
Cystic Fibrosis
Male infertility, Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vi... OMIM:219700
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hyperammonemia ORPHA:664
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Congenital ... ORPHA:2519
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... OMIM:232800
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Autoimmunity, Elevated circu... ORPHA:158061
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Neonatal respiratory distress, Optic atrophy, Respiratory distress OMIM:615042
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Failure to thrive, Pancreatitis ORPHA:79312
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Chroni... ORPHA:90033
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Autoimmunity, Splenomegaly, Enlarged tonsils, Bronchiectasis, Ch... OMIM:616005
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia OMIM:601163
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Cou... ORPHA:228123
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Anemia, Ne... ORPHA:505248
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarth... ORPHA:77259
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Abnormal uterine cervix morphology, Elevated circulating luteinizing horm... ORPHA:99429
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Patent ductus arteriosus, Absent foveal reflex, Co... OMIM:615147
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure, Retinal dege... OMIM:615630
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Macular degeneration, Choroidal neovascularization, Drusen OMIM:608895
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Cryptorchidism, Pneumonia, External genital hypoplasia ORPHA:1867
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Failure to thrive, Portal hype... ORPHA:367
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Autoimmunity, Splenomegaly, ... OMIM:615387
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... OMIM:265120
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Jaundice, Schistocytos... OMIM:274150
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Bronchiectasis, Ulcer... OMIM:618394
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin... ORPHA:79259
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:212140
Igg4-Related Aortitis
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Elevated circula... ORPHA:449400
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P... OMIM:616100
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Hyperuricemia, Ve... ORPHA:261222
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Aspirati... ORPHA:70588
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin co... OMIM:618398
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus eryt... ORPHA:90036
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anemia,... OMIM:619525
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Small scrotum, Facial palsy, Pneumonia, Cryptorchidism, Abnorma... ORPHA:98905
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Stridor, Neoplasm of the lu... ORPHA:142
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Tularemia
Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Cough... ORPHA:3392
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
H Syndrome
Hypertriglyceridemia, Psoriasiform dermatitis, Abnormality of the kidney, Microcytic anemia, Bron... ORPHA:168569
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... OMIM:200995
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T ... ORPHA:760
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Mac... OMIM:619260
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... ORPHA:71505
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an... ORPHA:90035
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... ORPHA:439232
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Hyper... ORPHA:713
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Intrahepatic cholestasis, ... OMIM:227810
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebellar atrophy, Respiratory distress, Hypospadias, Corpus callosum atrophy, Cerebral atrophy,... OMIM:619272
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Omenn Syndrome
Hepatomegaly, Eosinophilia, Autoimmunity, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Lym... ORPHA:39041
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... OMIM:300653
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Oxygen desaturation on exertio... ORPHA:60025
Cockayne Syndrome A
Cerebellar atrophy, Hepatomegaly, Retinal atrophy, Abnormal auditory evoked potentials, Decreased... OMIM:216400
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Stomatitis, Chronic pancreati... OMIM:232240
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Skin rash, Pneumonia, Recurrent pneumonia, Chronic oral candidiasis, Failure to thrive OMIM:300400
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Respiratory distress, Apnea, Optic atrophy, Frontotemporal cerebral atrophy ORPHA:79097
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Autoimmunity, Pneumonia, Autoimmune throm... ORPHA:1855
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Optic atrophy, Retinal degeneration OMIM:616211
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Trichothiodystrophy
Congenital exfoliative erythroderma, Eczema, Cryptorchidism, Recurrent bronchopulmonary infection... ORPHA:33364
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypospadias, Apnea, Optic atrophy, Bronchiectasis, Respiratory insuffi... OMIM:618253
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... ORPHA:331206
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Failure to thrive secondary to recurrent... OMIM:601457
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise, Acute kid... ORPHA:57
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pulmonary fibrosis OMIM:618165
Leukocyte Adhesion Deficiency
Chronic oral candidiasis, Sinusitis, Severe periodontitis, Pneumonia, Lymphocytic interstitial pn... ORPHA:2968
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly, Optic atrophy, Pancreatitis ORPHA:289916
Joubert Syndrome 6
Breathing dysregulation, Bile duct proliferation, Hepatic fibrosis, Chorioretinal coloboma, Retin... OMIM:610688
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Osteomyelitis, Failure to thrive in infancy, Skin rash, Pustu... OMIM:612852
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Pericarditis, Maculopapular ex... ORPHA:781
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pulmonary obstruction, A... ORPHA:1163
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Combined Immunodeficiency, X-Linked
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media OMIM:312863
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea, Retinal degeneration OMIM:616896
Schimke Immunoosseous Dysplasia
Renal insufficiency, Pancytopenia, Proteinuria, Abnormal immunoglobulin level, Bilateral cryptorc... OMIM:242900
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Tachypnea, Optic atrophy, Respiratory insufficiency, Respirat... OMIM:614299
Type 1 Diabetes Mellitus
Autoimmunity, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... OMIM:608022
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Pneumonia, Eczema, Splenomegaly, Asthma, Failure to thrive OMIM:607271
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Hypospadias, Cryptorchidism, Patent ductus a... OMIM:217980
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Abnormality of retinal pigmentation, Failure to thrive, Respiratory di... ORPHA:2556
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... ORPHA:368
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Large for gestational age ORPHA:45452
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Pulmonary hypoplasia OMIM:616733
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation, Inflammatory abnormality ... ORPHA:816
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cirrhosis OMIM:613987
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Thrombocytopenia OMIM:603585
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Cerebral atrophy, Brain atrophy, Failure to thrive, Retinal degeneration ORPHA:442835
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ... ORPHA:213
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Melioidosis
Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infection, Abnormal... ORPHA:31202
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Small for gestational age, Diabetes mellitus, ... ORPHA:125
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Infectious encephalitis, Cough ORPHA:99825
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Hypoplastic spleen, Abnormal retinal morphology, Respiratory distress ORPHA:89844
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Inflammatory abnormality of th... ORPHA:26793
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... ORPHA:100026
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... OMIM:610910
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating lipid concentration, Proteinuria, Autoimmunity, Pneumonia,... ORPHA:2298
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility, Aplasia of the ovary OMIM:614324
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Eosinophilia, Autoimmunity, Sinusitis... ORPHA:183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Retin... OMIM:236670
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Male... ORPHA:90790
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Neuro... ORPHA:391428
Felty Syndrome
Episcleritis, Hepatomegaly, Recurrent urinary tract infections, Sinusitis, Pericarditis, Autoimmu... ORPHA:47612
Farber Disease
Elevated hepatic transaminase, Respiratory distress, Intrahepatic cholestasis with episodic jaund... ORPHA:333
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Optic atrop... OMIM:220110
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:276621
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... OMIM:611881
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... OMIM:616860
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection OMIM:620011
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Periodontitis, Hydronephrosis OMIM:619269
Wilson Disease
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia... OMIM:277900
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... OMIM:146255
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Respiratory failure, Pulmonary hypoplasia, Respiratory distress OMIM:617895
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Corpus callosum atrophy, Abnormal amplitude of flash visual evoked potentials... ORPHA:168491
Slc35A1-Cdg
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr... OMIM:616307
Nephronophthisis 14
Retinal degeneration OMIM:614844
Nocardiosis
Respiratory distress, Liver abscess, Nonproductive cough, Lymphadenitis, Conjunctivitis, Emphysem... ORPHA:31204
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Pneumonia, Splenomegaly, Bronchiectasi... OMIM:226990
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Holocarboxylase Synthetase Deficiency
Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Weight loss, Perioral eczema ORPHA:79242
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:228305
Hypoglossia With Situs Inversus
Asplenia, Upper airway obstruction, Respiratory distress, Polysplenia OMIM:612776
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly, Failure to thrive ORPHA:927
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regenerative hyperplasia of liver, ... ORPHA:247691
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... OMIM:300554
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... OMIM:270200
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... ORPHA:90068
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... OMIM:277400
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia OMIM:617638
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis, Abnormal cranial nerve morphology ORPHA:990
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... ORPHA:227990
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Irregular menstruation, Uterine leiomyoma, Respiratory failu... OMIM:616482
Cockayne Syndrome
Retinal arteriolar constriction, Retinal degeneration, Hepatomegaly, Retinal atrophy, Cryptorchid... ORPHA:191
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin... OMIM:201475
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... OMIM:613464
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Triosephosphate Isomerase Deficiency
Respiratory distress, Optic disc pallor, Respiratory insufficiency due to muscle weakness, Spleno... OMIM:615512
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Hashimoto thyroiditis ORPHA:97285
Scheie Syndrome
Retinal degeneration OMIM:607016
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:98895
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, D... OMIM:615486
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Primary amenorrhea... OMIM:157640
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Cholestasis, Recu... OMIM:620233
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Respiratory distress, Hypospadias, ... ORPHA:209905
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, C... ORPHA:206436
Juvenile Nephropathic Cystinosis
Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney... ORPHA:411634
Scedosporiosis
Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Pericarditis, Ost... ORPHA:449280
Atypical Werner Syndrome
Fasting hyperinsulinemia, Abnormality of the pulmonary artery, Hepatic steatosis, Retinal degener... ORPHA:79474
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive ORPHA:261304
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Aceruloplasminemia
Abnormality of retinal pigmentation, Diabetes mellitus, Abnormal pancreas morphology, Macular deg... ORPHA:48818
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Respirato... ORPHA:308552
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... ORPHA:99845
Chops Syndrome
Splenomegaly, Cryptorchidism, Patent ductus arteriosus, Optic atrophy, Obesity, Anomalous pulmona... OMIM:616368
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Tubulointerstitial nephritis, Failure to thrive, Pancreatitis OMIM:251000
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Ear-Patella-Short Stature Syndrome
Respiratory distress, Hypoplasia of penis, Hypospadias, Cryptorchidism, Epispadias, Hypoplastic l... ORPHA:2554
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concentration, Renal Fanconi syndrome,... ORPHA:263455
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... ORPHA:892
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Abnormal ... ORPHA:79408
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Optic atrophy, Respiratory insufficiency, Abnormality of visual evoked potentials, ... ORPHA:2971
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Intermittent hyperventilation,... ORPHA:348
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Patent ductus ar... OMIM:617053
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... OMIM:602450
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, H... OMIM:251900
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... ORPHA:227982
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Autoimmunity, Panniculitis, ... ORPHA:79086
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic perip... OMIM:231680
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Cryptorchidism, Optic atrophy, Macular degeneration, Panniculitis, Hypo... ORPHA:3132
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Enl... ORPHA:276280
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hepatomegaly, Optic atrophy, Recurrent respiratory infections OMIM:619383
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary inter... ORPHA:97287
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Respiratory distress, Failure to thrive, Elevated circulatin... OMIM:256810
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys... ORPHA:95455
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hepatoblastoma, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithias... OMIM:130650
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... ORPHA:30
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Familial Mediterranean Fever
Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthritis, Lympha... ORPHA:342
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Respiratory distress, Hypospadias, Optic atrophy, Hypoplastic labia majora, Promin... OMIM:123790
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... OMIM:208500
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Nephrotic syndrome, Nephropathy ORPHA:330001
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst OMIM:618188
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... ORPHA:275
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Axial Spondylometaphyseal Dysplasia
Neonatal respiratory distress, Retinal dystrophy, Peripheral retinal degeneration, Respiratory tr... ORPHA:168549
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Cryptorchidism, Delayed puberty ORPHA:3121
Sickle Cell Disease
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hepatomegaly, Inspiratory stridor, Irregular respiration OMIM:604377
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hemolytic anemia OMIM:266120
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis... ORPHA:183675
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Retinal pigment epithelial mottling OMIM:617102
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:29072
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a... ORPHA:35858
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:18
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Failure to thrive, Diffuse cerebral atrophy, Superficial derm... ORPHA:83617
Paroxysmal Nocturnal Hemoglobinuria
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... ORPHA:447
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Malakoplakia
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Follicular hyperplasia, Or... ORPHA:556
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Meier-Gorlin Syndrome 1
Respiratory distress, Small for gestational age, Cryptorchidism, Hypoplastic labia minora, Emphys... OMIM:224690
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia... OMIM:608013
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... ORPHA:79240
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Common Variable Immunodeficiency
Elevated hepatic transaminase, Recurrent respiratory infections, Failure to thrive in infancy, Pn... ORPHA:1572
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... ORPHA:137914
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large for gestational age, Prolonged neonatal jaundice ORPHA:226313
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... ORPHA:217390
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... ORPHA:70578
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... OMIM:243910
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenome... ORPHA:169160
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... ORPHA:33001
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hypok... OMIM:619377
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Papillary cystad... OMIM:193300
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia OMIM:615399
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Pneumonia, Eczema, Splenomegaly, Recur... ORPHA:436159
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Keratoconjunctivitis sicca, Absent scrotum, Retinal degeneration OMIM:618479
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... ORPHA:64
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... OMIM:617394
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria, Hepatic steatosis, Hepatic necrosis OMIM:231530
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... OMIM:211530
Glycogen Storage Disease Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Abnormal ... ORPHA:2552
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, A... ORPHA:2357
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Macular coloboma, Pulmonary embolism, Atrophy of the spinal cord, Jaundice,... ORPHA:79282
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Neonatal Alloimmune Neutropenia
Jaundice, Pneumonia ORPHA:464370
Ddost-Cdg
Hepatic steatosis, Nephrotic range proteinuria ORPHA:300536
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria ORPHA:86818
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Respiratory insufficiency due to muscle weakness, Retinal degeneration OMIM:615249
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Hepatoblastoma, Elevated circulating alpha-fetoprotein concen... ORPHA:116
Toxic Epidermal Necrolysis
Acute hepatic failure, Respiratory distress, Elevated hepatic transaminase, Recurrent respiratory... ORPHA:537
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Overweight, Atrophy of the spinal cord, Abnormality of pattern visual ev... ORPHA:2822
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Autoimmunity, Elevated circu... ORPHA:900
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Recurrent pneumoni... OMIM:252500
Fabry Disease
Renal insufficiency, Proteinuria, Urinary mulberry cells, Lipiduria, Left ventricular hypertrophy... OMIM:301500
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration OMIM:266500
Distal Limb Deficiencies-Micrognathia Syndrome
Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Small for gestational age, Abnormal exter... ORPHA:1199
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Splenomegaly, ... OMIM:614700
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Abnormal mitochondrial shape, ... ORPHA:17
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Myocarditis, Hepatitis, Cholestasis, Pleural effusion, Hepatic f... ORPHA:292
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Renal insufficiency, Hypochromic microcytic anemia, Mild proteinuria, H... OMIM:619147
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, He... OMIM:212065
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Elevated circulating aspartate aminotransferase concentration, Retinal degene... OMIM:615558
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Respiratory distress, Pneumothorax, Glandular hypospadias, Cerebral atrophy, ... OMIM:620306
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Intrahepatic cholestasis, Mild proteinuria, Increased serum bile acid c... OMIM:619685
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Maculopapular exanthema, Skin rash, Retinal pigment epith... ORPHA:448237
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... OMIM:620300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Failure to thrive in infancy, Macular a... OMIM:619418
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Cryptorchidism, Jaundice, Moderate albuminuria OMIM:614231
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia OMIM:612300
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... OMIM:307200
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Myoglobinur... OMIM:255125
Pearson Syndrome
Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos... ORPHA:699
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium, Supernumer... ORPHA:1433
Multiple Sulfatase Deficiency
Cerebellar atrophy, Hepatomegaly, Splenomegaly, Cerebral atrophy, Retinal degeneration OMIM:272200
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive ORPHA:544503
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem... ORPHA:91500
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Hepatomegaly, Corpus callosum atrophy, Splenomegaly, Cerebral cortical atroph... OMIM:248500
Adnp Syndrome
Respiratory distress, Cryptorchidism, Recurrent upper respiratory tract infections, Cerebral atro... ORPHA:404448
Hurler Syndrome
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Neurodegenerati... OMIM:607014
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Neonatal respiratory distress, Respiratory distress,... OMIM:260400
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Abnormal mucociliary clearance, Splenomegaly, Jaundice, ... ORPHA:90051
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, Patent ductus a... OMIM:603467
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Microvesicular hepatic st... OMIM:617156
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Acute colitis, Leukocytosis, Schistocytosis, Peritonitis, ... ORPHA:90038
Kniest Dysplasia
Respiratory distress, Retinal detachment, Recurrent otitis media, Tracheomalacia OMIM:156550
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... ORPHA:488627
Aceruloplasminemia
Diabetes mellitus, Retinal degeneration OMIM:604290
Fusariosis
Fasciitis, Sinusitis, Myositis, Pneumonia, Maculopapular exanthema, Productive cough, Keratitis, ... ORPHA:228119
Osteoglophonic Dysplasia
Respiratory distress, Hypospadias, Cryptorchidism, Chordee, Failure to thrive OMIM:166250
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Angioid streaks of the fundus, Failure to thrive, Retinopathy, Retinal degeneration OMIM:239000
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Complete Atrioventricular Septal Defect
Hepatomegaly, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevat... ORPHA:1329
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Respiratory distress, Inflammatory abnormality of the skin, Cholan... ORPHA:3260
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... ORPHA:71212
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Hypogonadotropic hypogonadism, Anterior p... ORPHA:177907
Meacham Syndrome
Accessory spleen, Enlarged kidney, Horseshoe kidney OMIM:608978
Immunodeficiency 22
Decreased circulating IgG level, Pericarditis, Autoimmunity, Abscess, Anemia, Decreased circulati... OMIM:615758
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia OMIM:266265
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Endocrine-Cerebroosteodysplasia
Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney OMIM:612651
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Bilateral ... OMIM:616268
Mucopolysaccharidosis Type 3
Hepatomegaly, Recurrent sinopulmonary infections, Respiratory tract infection, Splenomegaly, Opti... ORPHA:581
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Hepatomegaly, Failure to thrive OMIM:251110
Cockayne Syndrome B
Hepatomegaly, Small for gestational age, Abnormal auditory evoked potentials, Decreased nerve con... OMIM:133540
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Keratitis, Absent retinal pigment epithelium, Patent... ORPHA:1051
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Hematuria, Anemia, Increased circulating a... ORPHA:77261
Nasolacrimal Duct Cyst
Intercostal retractions, Chronic irritative conjunctivitis, Episodic respiratory distress, Strido... ORPHA:141083
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Macular degeneration ORPHA:284289
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Chronic oral candidiasis, Recurrent bacterial skin infections, Skin rash, Pneumonia... ORPHA:276
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Listeriosis
Respiratory distress, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Pustule, Myocarditis... ORPHA:533
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Abnormality of macular pigmentation ORPHA:1573
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... OMIM:609015
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Lesch-Nyhan Syndrome
Testicular atrophy, Podagra OMIM:300322
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe kidney, Abdomina... OMIM:306955
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... ORPHA:411629
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... ORPHA:728
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Micronodular cirrhosis, Proteinuria OMIM:192315
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increa... ORPHA:508
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment... OMIM:618733
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v... ORPHA:485421
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Pulmonary arterial ... ORPHA:3309
Gitelman Syndrome
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypomag... ORPHA:358
Renal Nutcracker Syndrome
Proteinuria, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia ORPHA:71273
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... ORPHA:572333
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Smooth... ORPHA:1018
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Neph... ORPHA:500095
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... OMIM:615067
Alg9-Cdg
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Hepatic cysts, Periportal fibrosis,... ORPHA:79328
Turner Syndrome Due To Structural X Chromosome Anomalies
Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibrosis, Hepatic ste... ORPHA:99413
Mosaic Monosomy X
Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibrosis, Hepatic ste... ORPHA:99228
Monosomy X
Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibrosis, Hepatic ste... ORPHA:99226
Turner Syndrome
Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibrosis, Hepatic ste... ORPHA:881
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Hermansky-Pudlak Syndrome
Menometrorrhagia, Epistaxis, Dyspnea, Ocular albinism, Weight loss, Abnormal optic nerve morpholo... ORPHA:79430
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c... ORPHA:911
Pheochromocytoma
Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Small for gestational age OMIM:227650
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Ogden Syndrome
Global glomerulosclerosis, Eczema, Cardiomegaly, Cryptorchidism, Thrombocytopenia, Jaundice, Micr... OMIM:300855
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Hemoglobinuri... ORPHA:244242
Agel Amyloidosis
Keratoconjunctivitis sicca, Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... ORPHA:158684
Bohring-Opitz Syndrome
Recurrent respiratory infections, Retinal atrophy, Apnea, Optic atrophy, Severe failure to thrive... ORPHA:97297
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Non-medullary thyroid carcinoma, Male hypo... ORPHA:273
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Gaucher Disease, Type I
Hepatomegaly, Macular atrophy, Epistaxis, Hypersplenism, Dyspnea, Splenomegaly, Abnormal pulmonar... OMIM:230800
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Apnea, Rod-cone dystrophy, Dyspnea, Episodic respiratory distress, Optic atrophy, P... ORPHA:255210
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Pulmonary edema, Dyspnea OMIM:115197
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Retinal detachment, Vitreoretinopathy, Restrictive ventilatory defect OMIM:183900
Pantothenate Kinase-Associated Neurodegeneration
Pallidal degeneration, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal fle... ORPHA:157850
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration, Retinal degeneration ORPHA:79244
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Hepatomegaly, Failure to thrive OMIM:251100
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the kidney, Cholangitis, Eosinophilia, Retroperitoneal fibros... ORPHA:449432
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Respiratory insufficiency due to muscle weakness, ... ORPHA:365
Martin-Probst Syndrome
Renal insufficiency, Pancytopenia, Proteinuria, Cryptorchidism, Chordee, Micropenis OMIM:300519
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Abnormal foveal morphology, Decre... ORPHA:580
Kawasaki Disease
Pericarditis, Proteinuria, Skin rash, Myocarditis, Leukocytosis, Cervical lymphadenopathy, Jaundi... ORPHA:2331
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Ohdo Syndrome
Cryptorchidism, Proteinuria OMIM:249620
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Respiratory distress, Maculopapular exanthema, Skin rash, Crackles... ORPHA:319213
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Rubinstein-Taybi Syndrome 1
Accessory spleen, Respiratory distress, Hypospadias, Small for gestational age, Premature thelarc... OMIM:180849
Tetanus
Respiratory distress, Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder ... ORPHA:3299
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Recurrent otitis media, Cryptorchidism, Proteinuria, Multiple bladder diverticula ORPHA:2728
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive ORPHA:50810
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Immunoglobulin A Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Orchitis, Pustule, Hem... ORPHA:761
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Biotinidase Deficiency
Respiratory distress, Apnea, Skin rash, Optic neuropathy, Optic atrophy, Conjunctivitis, Eczemato... ORPHA:79241
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia, Hepatic steatosis OMIM:616271
Cornelia De Lange Syndrome 1
Hypospadias, Pneumonia, Cryptorchidism, Optic disc coloboma, Optic atrophy, Hypoplastic labia maj... OMIM:122470
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Cockayne Syndrome Type 1
Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Uveitis, Conjunctivitis, Increase... ORPHA:90321
Nephronophthisis 11
Hepatic fibrosis, Retinal degeneration OMIM:613550
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Xfe Progeroid Syndrome
Renal insufficiency, Ascites, Proteinuria, Hypoalbuminemia OMIM:610965
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Chronic bronchitis, Failure to thrive OMIM:242860
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... OMIM:614748
Schinzel-Giedion Syndrome
Respiratory distress, Streak ovary, Aganglionic megacolon, Hypospadias, Failure to thrive in infa... ORPHA:798
Glycogen Storage Disease Of Heart, Lethal Congenital
Ascites, Enlarged kidney, Cardiomegaly OMIM:261740
Pachyonychia Congenita
Respiratory distress, Failure to thrive, Angular cheilitis ORPHA:2309
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ... ORPHA:99827
Ulbright-Hodes Syndrome
Abnormal penis morphology, Respiratory distress, Abnormal external genitalia, Enlarged labia mino... ORPHA:3404
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Optic disc pallor, Hepatomegaly, Retinal atrophy, Retinal dystroph... ORPHA:90324
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Aganglionic megacolon, Asplenia, Patent ductus arterios... ORPHA:210122
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Riddle Syndrome
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... ORPHA:420741
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis OMIM:619652
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Craniofaciofrontodigital Syndrome
Respiratory distress, Dyspnea, Pulmonary arterial hypertension, Large for gestational age ORPHA:363705
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Macular degeneration OMIM:619780
Cardiac-Urogenital Syndrome
Accessory spleen, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmo... OMIM:618280
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... ORPHA:2614
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Alpha-Mannosidosis, Adult Form
Cerebellar atrophy, Optic disc pallor, Pneumonia, Hepatosplenomegaly, Subcortical cerebral atroph... ORPHA:309288
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Recurrent lower respiratory... OMIM:618426
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Nephrotic syndrome, ... ORPHA:324
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:607155
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis... ORPHA:534
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:98914
Mgat2-Cdg
Respiratory distress, Abnormality of the endocrine system, Patent ductus arteriosus, Hypoplastic ... ORPHA:79329
Melas
Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Recurrent pancreatitis, Ne... ORPHA:550
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Failure to thrive, Recurrent respiratory infections, Retinal dystrophy, Cholangitis... OMIM:266920
Leptospirosis
Respiratory distress, Papilledema, Hepatomegaly, Pericarditis, Skin rash, Jaundice, Retinal hemor... ORPHA:509
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Pneumothorax, P... ORPHA:185
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atro... ORPHA:2785
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Anuria, Acute colitis, Pneumonia, Pancreatitis, Le... ORPHA:544482
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Japanese Encephalitis
Decreased motor nerve conduction velocity, Respiratory distress, Pulmonary edema, Facial palsy, P... ORPHA:79139
Bardet-Biedl Syndrome 20
Proteinuria, Bilateral cryptorchidism, Hypercholesterolemia, Micropenis, Pancreatitis OMIM:619471
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells, Respiratory distress OMIM:271225
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent upper respiratory tract infections, Pneumonia, Chronic bronchitis OMIM:614069
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Tuberous Sclerosis Complex
Respiratory distress, Retinal astrocytic hamartoma, Retinal hamartoma, Pancreatic endocrine tumor... ORPHA:805
Omenn Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Erythroderma, Failure to thrive OMIM:603554
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Pmm2-Cdg
Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Pericarditis, Hypogonadot... ORPHA:79318
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Hypospadias, Apnea, Recurrent upper respirat... OMIM:114290
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Acute ki... ORPHA:423
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Elevated hepatic iron concentration, Cough, Pancreatic hy... OMIM:619991
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Otitis media, R... OMIM:613179
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Proteinuria, Elevated circulating C-reactive protein c... ORPHA:355
Helsmoortel-Van Der Aa Syndrome
Cryptorchidism, Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna OMIM:615873
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Atopic dermatitis, Epididymal cyst, Recurrent... OMIM:136140
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Hypospadias, Pneumonia, Cryptorchidism, Patent ductus arteriosu... ORPHA:353281
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... ORPHA:536467
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... OMIM:616878
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Abnormality of thyroid physiology, Patent... OMIM:300968
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Wagro Syndrome
Nephroblastoma, Proteinuria, Decreased testicular size OMIM:612469
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Retrop... ORPHA:79078
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:206549
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Eczematoid dermatitis, Chroni... ORPHA:83471
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hepatomegaly, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Vici Syndrome
Recurrent respiratory infections, Failure to thrive, Macular atrophy, Ocular albinism, Chronic mu... OMIM:242840
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hydrometrocolpos, Vag... OMIM:617088
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Recurrent respiratory infectio... OMIM:615273
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Focal segmental glomeru... OMIM:619127
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Rhinitis, Periodontitis... ORPHA:486
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema OMIM:617300
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... OMIM:223900
Roifman-Chitayat Syndrome
Arthritis, Optic atrophy, Pneumonia OMIM:613328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Enlarged flash visua... OMIM:253280
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Cryptorchidism, Splenomegaly, Renal cyst, Duplication of renal pelvis,... OMIM:312870
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Pulmonary artery stenosis, Myocarditis, Cardiorespiratory arrest, ... ORPHA:3342
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hepatomegaly, Pneumonia, Chronic otitis media ORPHA:169090
Shigellosis
Failure to thrive in infancy, Pneumonia, Myocarditis, Peritonitis, Cholestasis, Uveitis, Ulcerati... ORPHA:810
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Optic atrophy, Congenital hypothyroidism, Aspiration p... ORPHA:79500
Floating-Harbor Syndrome
Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Epididymal cyst, Vari... ORPHA:2044
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease OMIM:613848
Achondroplasia
Respiratory distress, Recurrent otitis media, Pulmonary hypoplasia, Upper airway obstruction OMIM:100800
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Geleophysic Dysplasia 3
Dyspnea, Hepatomegaly, Respiratory failure, Pneumonia OMIM:617809
Degcags Syndrome
Hepatomegaly, Hypospadias, Small for gestational age, Tracheomalacia, Pneumonia, Cryptorchidism, ... OMIM:619488
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Abnormal autonomic nervous system physiology, Aspiration, Failure to... ORPHA:2131
Plague
Respiratory distress, Hepatomegaly, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymph... ORPHA:707
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin... ORPHA:79404
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti... OMIM:605808
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Failure to thrive, Small for gestational age, Exocrine pancreatic insuffici... ORPHA:2255
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Cerebellar atrophy, Abnormal fundus morphology, Cerebral atrophy, Macula... ORPHA:94147
Rodrigues Blindness
Nasal flaring OMIM:268320
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Abnormal lung morphology, Upper airwa... ORPHA:141127
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
8Q24.3 Microdeletion Syndrome
Respiratory distress, Ectopic posterior pituitary, Small for gestational age, Optic nerve hypopla... ORPHA:508488
Noonan Syndrome 1
Male infertility, Hypospadias, Failure to thrive in infancy, Cryptorchidism, Patent ductus arteri... OMIM:163950
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor ORPHA:100050
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Abnormality of ... ORPHA:2750
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis OMIM:601005
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration, Cerebellar cortical atrophy, Abnormal autonomic nervous system physiology, ... ORPHA:247234
Hennekam-Beemer Syndrome
Failure to thrive, Optic atrophy, Pneumonia, Respiratory insufficiency ORPHA:2135
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Proteinuria, Cryptorchidism, Abnormality of the spleen, Abnorm... ORPHA:2162
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Respiratory failure, Chylothorax OMIM:620278
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Cerebral degeneration, Retinal degenera... OMIM:234200
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior... ORPHA:1435
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Ethylene Glycol Poisoning
Gastritis, Facial palsy, Tachypnea, Episodic respiratory distress, Renal tubular epithelial necro... ORPHA:31826
Kasabach-Merritt Syndrome
Respiratory distress, Hepatic hemangioma, Hypopnea ORPHA:2330
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Splenomega... OMIM:619381
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Hepatic fibrosis, Polycystic kidney dysplasia, Hepatic cysts OMIM:311200
Knobloch Syndrome
Retinal detachment, Patent ductus arteriosus, Abnormal vitreous humor morphology, Macular degener... ORPHA:1571
Colchicine Poisoning
Respiratory distress, Myocarditis, Cardiorespiratory arrest ORPHA:31824
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Splenomegaly, Hepatitis, Atop... OMIM:615846
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ... OMIM:600802
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Recurrent... ORPHA:99125
Generalized Arterial Calcification Of Infancy
Respiratory distress, Choroidal neovascularization, Failure to thrive in infancy, Adrenal calcifi... ORPHA:51608
Eisenmenger Syndrome
Respiratory distress, Hepatomegaly, Increased pulmonary vascular resistance, Wheezing, Aortopulmo... ORPHA:97214
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Absent nipple, Eczema, Aplasia/Hypoplastia of the eccrine sweat glands, Rhi... OMIM:305100
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys... OMIM:158310
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Asthma, Abnormal autonomic nervous system physiology, Ectopic thyroi... ORPHA:3206
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal t... ORPHA:904
Shwachman-Diamond Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Sinusitis, Skin rash, Pneumonia, ... ORPHA:811
Aymé-Gripp Syndrome
Cryptorchidism, Pericarditis, Proteinuria ORPHA:1272
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Hypospadias, Pneumonia, Cryptorchidism, Patent ductus arteriosu... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Hypospadias, Pneumonia, Cryptorchidism, Patent ductus arteriosu... ORPHA:353277
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Restrictive ventilatory defect, Recurrent sinusitis,... OMIM:607944
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa... ORPHA:79138
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Hypospadias, Small for gestational age, Pneumonia, Cryptorchidi... OMIM:264090
Alpha-Mannosidosis, Infantile Form
Cerebellar atrophy, Optic disc pallor, Pneumonia, Hepatosplenomegaly, Subcortical cerebral atroph... ORPHA:309282
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring, Obesity ORPHA:466943
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ... OMIM:253200
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Cyst of the ductus choledochus, Abnormal circulating thyroid hormone concen... ORPHA:480880
Isolated Arrhinia
Respiratory distress ORPHA:1134
Aortic Arch Interruption
Respiratory distress, Tachypnea, Aortopulmonary window, Exertional dyspnea ORPHA:2299
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cryptorchidism, Proteinuria OMIM:616682
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Failure to thrive, Recurrent pneumonia ORPHA:99646

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 Bsg

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 Bsg.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Bsgtm214177(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Bsgtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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