banner
Genes Phenotypes Help, News, Blog

Gene: Bsg MGI:88208

Log in to follow
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
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Autoimmunity, ... OMIM:617006
Young Syndrome
Obstructive azoospermia, Decreased fertility, Recurrent bronchitis, Recurrent sinopulmonary infec... ORPHA:3471
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu... OMIM:614420
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Mesangial Immune complex d... OMIM:613496
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me... OMIM:613779
C1Q Deficiency 1
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... OMIM:619375
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... OMIM:615861
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... ORPHA:567544
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Recurrent pneumonia, Abnormal male external genitalia ... OMIM:301101
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c... OMIM:614196
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Nephrotic Syndrome, Type 8
Chronic kidney disease, Hypoalbuminemia, Thin glomerular basement membrane, Stage 5 chronic kidne... OMIM:615244
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, IgA depos... OMIM:616730
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot... ORPHA:329918
Young Syndrome
Congenital pulmonary airway malformation, Azoospermia, Recurrent bronchitis, Recurrent sinopulmon... OMIM:279000
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Bardet-Biedl Syndrome 16
Bronchiolitis, Respiratory distress, Hypogonadism, External genital hypoplasia, Recurrent otitis ... OMIM:615993
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,... OMIM:152700
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Lympho... OMIM:617575
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hepatic steatosis, Proteinuria, Hematuria, Membranoprol... OMIM:608709
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Congenital nephrotic syndrome, Renal insufficiency, Hyperlipidemia, Proteinuria,... OMIM:256300
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
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... OMIM:615285
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Antinuclear antibody positivity, Arthritis, Elevated circulating C-re... OMIM:616414
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Failure to thrive,... OMIM:610913
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... OMIM:619858
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedul... OMIM:619902
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia ORPHA:419
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Galactosemia I
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Reduced erythrocyt... OMIM:230400
Autoimmune Hepatitis
Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone... ORPHA:2137
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Ascites, Stage 5 chr... OMIM:603278
Morbid Obesity And Spermatogenic Failure
Obesity, Azoospermia, Hepatic steatosis, Oligozoospermia, Infertility OMIM:615703
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Weight loss, Dyspn... ORPHA:133
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th... OMIM:102700
Idiopathic Pulmonary Hemosiderosis
Antineutrophil antibody positivity, Hepatosplenomegaly, Cardiomegaly, Antinuclear antibody positi... ORPHA:99931
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Hemochromatosis, Type 2A
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Arthritis, Hepat... OMIM:602390
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Igg4-Related Kidney Disease
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... ORPHA:449395
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm m... OMIM:620438
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Membran... OMIM:618999
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Proteinuria, Glomerulopathy, Lymphocytosis, Microscopic hematuria ORPHA:79087
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Deleted in azoospermia
Azoospermia OMIM:400003
Ciliary Dyskinesia, Primary, 50
Chronic sinusitis, Chronic bronchitis, Reduced progressive sperm motility, Short sperm flagella, ... OMIM:620356
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Hematuria, Benign Familial, 2
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria OMIM:620320
Hyperprolactinemia
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Pneumocystosis
Pleural effusion, Interstitial pneumonitis, Weight loss, Exertional dyspnea, Acute infectious pne... ORPHA:723
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
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
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
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Skin rash, Proteinuria, Hematuria, Hep... OMIM:105200
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinur... OMIM:620010
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... OMIM:304790
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Recurrent otitis media, Splenomegaly, Lymphocytic interstitial pneumonia, Hepa... OMIM:618495
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Nail-Patella-Like Renal Disease
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria ORPHA:2613
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate... OMIM:616433
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:301006
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul... ORPHA:93126
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Weight loss, Aspiration pneumonia ORPHA:141152
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Monocytosis, Lymp... OMIM:619644
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Cerebellar atrophy, Male infertility ORPHA:276183
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... ORPHA:84090
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia, Cerebellar atrophy OMIM:613909
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... OMIM:104200
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen... ORPHA:444463
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:614376
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly OMIM:620296
Stt3B-Cdg
Small scrotum, Optic atrophy, Cerebellar atrophy, Failure to thrive, Respiratory distress, Crypto... ORPHA:370924
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... ORPHA:3261
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Optic atrophy, Cerebellar atrophy, Failure to thrive, Respiratory distress, Crypto... OMIM:615597
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism OMIM:613724
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... OMIM:604387
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia ORPHA:2134
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Deep derm... ORPHA:49041
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy... ORPHA:567546
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hematuria, P... OMIM:618349
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Actinic Prurigo
Pyoderma, Cheilitis, Glomerulonephritis OMIM:174770
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... OMIM:614455
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Arthritis OMIM:216950
Imerslund-Grasbeck Syndrome 2
Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Megal... OMIM:618882
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
48,Xxyy Syndrome
Recurrent respiratory infections, Decreased testicular size, Azoospermia, Apnea, Obesity, Cryptor... ORPHA:10
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Congenital stationary night blindness, Increased serum t... ORPHA:8
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Recurrent sinusitis, Immotile sperm, Infertility, Bronchiectasis OMIM:618449
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Azoospermia, Pleural effusion, Splenomeg... OMIM:235200
Pleural Mesothelioma
Dyspnea, Respiratory distress, Abnormal pleura morphology, Pleural effusion, Weight loss, Hepatom... ORPHA:50251
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Recurrent upper respiratory tract infections, ... ORPHA:99330
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ... ORPHA:100024
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:603909
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... ORPHA:85445
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, I... ORPHA:470
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic... OMIM:615952
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Eczematoid... OMIM:620565
Adult-Onset Still Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Interstitial pneumonitis, Spl... ORPHA:829
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis OMIM:619603
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato... ORPHA:99867
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased HDL cholesterol concentration, ... OMIM:245900
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis, Anemia ORPHA:375
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
Autoimmune Lymphoproliferative Syndrome
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:601859
Maternal Uniparental Disomy Of Chromosome X
Hepatic failure, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue ... ORPHA:261519
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Male... OMIM:300991
48,Xyyy Syndrome
Male hypogonadism, Recurrent upper respiratory tract infections, Azoospermia, Primary gonadal ins... ORPHA:99329
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Trimethylaminuria
Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia OMIM:602079
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Ulcer... OMIM:614878
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias OMIM:619428
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy, Anemia, Hypercalcemia ORPHA:2668
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i... OMIM:619773
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Rheumatoid factor positive, Paraproteinemia, ... ORPHA:91139
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Acne, Male infertility ORPHA:3000
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu... OMIM:300200
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h... ORPHA:1830
Diffuse Alveolar Hemorrhage
Antineutrophil antibody positivity, Elevated circulating creatinine concentration, Autoimmunity, ... ORPHA:90060
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia OMIM:230350
Immunodeficiency 104
Pneumonia, Eczematoid dermatitis, Failure to thrive secondary to recurrent infections, Chronic mu... OMIM:608971
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Ciliary Dyskinesia, Primary, 9
Pneumonia, Absent outer dynein arms, Recurrent otitis media, Recurrent sinusitis, Chronic rhiniti... OMIM:612444
Heme Oxygenase 1 Deficiency
Nephritis, Increased circulating ferritin concentration, Cervical lymphadenopathy, Hematuria, Pro... OMIM:614034
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Congenital Nephrotic Syndrome, Finnish Type
Proteinuria, Nephrotic syndrome, Elevated amniotic fluid alpha-fetoprotein, Abnormal renal tubule... ORPHA:839
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress, Splenomegaly, Hepatomegaly, Recurrent resp... ORPHA:77260
Ciliary Dyskinesia, Primary, 40
Azoospermia, Chronic sinusitis, Chronic rhinitis, Infertility, Absent outer dynein arms OMIM:618300
Systemic Sclerosis
Chronic kidney disease, Acute kidney injury, Anti-centromere antibody positivity, Osteomyelitis, ... ORPHA:90291
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Hyperbilirubinemia, Hepatic cysts, Splenic cyst, I... ORPHA:400
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... OMIM:232220
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis ORPHA:330021
Al Amyloidosis
Hypoalbuminemia, Howell-Jolly bodies, Abnormality of the liver, Renal insufficiency, Increased ci... ORPHA:85443
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Episodic hemolytic anemia, Increased blood urea nitrogen, Membranoproliferative glom... ORPHA:251004
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Absent inner and outer dynein arms, Recurrent respiratory infections, Bronchiec... OMIM:618801
Systemic Lupus Erythematosus
Discoid lupus rash, Antineutrophil antibody positivity, Anti-La/SS-B antibody positivity, Leukope... ORPHA:536
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Myotonic Dystrophy 1
Cholelithiasis, Cerebral atrophy, Respiratory distress, Hypogonadism, Facial diplegia, Testicular... OMIM:160900
Ciliary Dyskinesia, Primary, 2
Absent inner and outer dynein arms, Respiratory distress, Otitis media, Sinusitis, Infertility, R... OMIM:606763
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomer... OMIM:617729
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Chronic sinusiti... ORPHA:922
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis, Immotile sperm, Absent central micro... OMIM:617091
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... OMIM:610984
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome, Hypoalbuminemia OMIM:614652
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly ORPHA:231154
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Recurrent pneumonia, ... OMIM:617303
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Dark urine, Hematur... ORPHA:93552
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Oti... OMIM:613807
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Immunodeficiency 23
Allergic rhinitis, Rheumatoid factor positive, Eczematoid dermatitis, Chronic mucocutaneous candi... OMIM:615816
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Hema... ORPHA:2035
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... OMIM:300555
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Autoimmunity, Splenomegaly, Follicular hyperplasia, Increased circulating... OMIM:614470
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Isolated Atp Synthase Deficiency
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Respiratory distress, Hypogonadism,... ORPHA:254913
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Respiratory distress, Recurrent respiratory infections, Chronic otit... OMIM:619466
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Dyskeratosis Congenita, Autosomal Dominant 1
Hepatic necrosis, Interstitial pneumonitis, Cirrhosis, Dyspnea, Pulmonary fibrosis OMIM:127550
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Hypospadias, Failure to thrive OMIM:300934
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... ORPHA:54057
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent sinusitis, Short sperm flagella, Recurrent respiratory infections, Bronchiectasis, Male... OMIM:620197
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Abno... OMIM:215250
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Failure to thrive, Respiratory distress, Type II pn... OMIM:263000
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
8P11.2 Deletion Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Azoospermia, Cryptorchidism, Spleno... ORPHA:251066
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent otitis med... OMIM:240500
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, Elevated circulating hepatic transaminase concentration, Failure to thrive, Respir... ORPHA:329178
Primary Ciliary Dyskinesia
Abnormal sperm motility, Bronchiectasis, Female infertility, Polysplenia, Atelectasis, Recurrent ... ORPHA:244
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Hypoplasia of the uterus, Female infertility OMIM:617442
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... OMIM:618892
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Bacterial Toxic-Shock Syndrome
Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Elevated circulating creat... ORPHA:36234
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mesangial hypercellularity OMIM:620425
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM OMIM:606445
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Bilateral cryptorchidism, Respiratory distress, Glandular hypospadias, Atelectasis... OMIM:300219
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Nephrocalcinosis, Eleva... OMIM:276700
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:228302
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Diabetes insipidus, Infertility ORPHA:1445
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin lev... ORPHA:48435
48,Xxxy Syndrome
Small scrotum, Recurrent respiratory infections, Hypogonadism, Decreased testicular size, Azoospe... ORPHA:96263
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade... OMIM:618852
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Hyperlipidemia, H... OMIM:232200
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Recurrent otitis media, Abdominal situs ambiguus, Recurrent sinusitis, ... OMIM:614874
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... OMIM:174000
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia... OMIM:612310
Preeclampsia
Chronic kidney disease, Acute kidney injury, Abnormality of the hepatic vasculature, Elevated cir... ORPHA:275555
Imerslund-Grasbeck Syndrome 1
Proteinuria, Microscopic hematuria, Megaloblastic anemia OMIM:261100
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct proliferation, Renal... OMIM:208540
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:160010
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Recurrent upper respiratory tract infections, Recurrent pneumonia, Small for gesta... OMIM:607143
Papa Syndrome
Crohn's disease, Proteinuria, Increased inflammatory response, Myositis, Pustule, Increased circu... ORPHA:69126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612925
Immunodeficiency 27A
Pneumonia, Hypoalbuminemia, Rheumatoid factor positive, Increased circulating IgG level, Hepatosp... OMIM:209950
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal insufficiency, Proteinuria, Diffuse me... OMIM:251300
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Optic atrophy, Hepatic steatosis, Failure to thrive ORPHA:26792
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Cirrhosis, Exertional dyspnea, Dyspnea, Pu... OMIM:178500
Bronchopulmonary Dysplasia
Atelectasis, Respiratory distress, Emphysema, Central apnea, Dyspnea, Abnormal lung morphology, P... ORPHA:70589
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Reduced sperm motility, Bronchi... OMIM:619436
Mogs-Cdg
Optic atrophy, Respiratory distress, External genital hypoplasia, Apnea, Hepatosplenomegaly, Hypo... ORPHA:79330
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612924
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia, Splenomegaly, Elevated hepatic iron concentration, Hepatomegaly OMIM:615234
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Absence of lymph node germinal center,... ORPHA:277
Hypocomplementemic Urticarial Vasculitis
Ascites, Autoimmunity, Renal insufficiency, Splenomegaly, Episcleritis, Skin rash, Hematuria, Pro... ORPHA:36412
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Abnormal anterior horn cell morphology, Cryptorchidism, Degeneration of ant... ORPHA:1145
Ciliary Dyskinesia, Primary, 37
Female infertility, Bronchiectasis, Chronic rhinitis OMIM:617577
Cryoglobulinemic Vasculitis
Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat... ORPHA:91138
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho... OMIM:613490
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
49,Xxxxy Syndrome
Small scrotum, Recurrent respiratory infections, Hypogonadism, Decreased testicular size, Azoospe... ORPHA:96264
Perching Syndrome
Respiratory distress, Rod-cone dystrophy OMIM:617055
Primary Sjögren Syndrome
Usual interstitial pneumonia, Arteritis, Biliary cirrhosis, Bronchitis, Abnormal pulmonary inters... ORPHA:289390
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Hyperlipidemia, Increased hepatic glycogen content, Proteinuri... ORPHA:369
Glycogen Storage Disease Xi
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis OMIM:134610
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Obesity, Female pseudohermaphroditism, Cryptorch... ORPHA:91
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto... ORPHA:182050
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-linked sialopeptid... OMIM:256550
Majeed Syndrome
Acne, Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Proteinuri... ORPHA:77297
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Combined Oxidative Phosphorylation Deficiency 30
Failure to thrive, Decreased liver function, Respiratory distress, Elevated circulating aspartate... OMIM:616974
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... OMIM:300845
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia OMIM:618347
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Intrahepatic biliary dysgenesis, Hydronephrosis, Prolonged neonatal jaundice, Hepa... OMIM:214100
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P... OMIM:618886
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz... OMIM:300908
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Decrease... ORPHA:85450
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent... OMIM:607594
Alport Syndrome
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... ORPHA:63
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Bronchiectasis, Eczematoid dermatitis, Autoimmunity, Skin rash, Keratoconju... ORPHA:79128
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Autoimmunity, Decreased circulating ant... ORPHA:397596
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Cholestatic liver disease, Gl... OMIM:613404
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Eczematoid dermatitis, Stillbirth OMIM:619751
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
45,X/46,Xy Mixed Gonadal Dysgenesis
Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnor... ORPHA:1772
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Anti-glomerular basement membrane-antibod... OMIM:233450
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... OMIM:613011
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula... OMIM:194380
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Atelectasis... ORPHA:60032
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Reduced sperm motility... OMIM:615500
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperur... OMIM:613845
Cold Agglutinin Disease
Abnormal urinary color, Autoimmunity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Bloom Syndrome
Recurrent upper respiratory tract infections, Small for gestational age, Azoospermia, Malar rash,... OMIM:210900
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail... OMIM:613561
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Alagille Syndrome 2
Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid... OMIM:610205
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Psoriasiform dermatitis, Hepatosplenomegaly... ORPHA:168569
Moebius Syndrome
Respiratory distress, Decreased testicular size, Facial diplegia, Hypogonadotropic hypogonadism, ... OMIM:157900
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cryptorchidism, Jaundic... ORPHA:79239
Free Sialic Acid Storage Disease
Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome ORPHA:834
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis... OMIM:615482
Bloom Syndrome
Pneumonia, Bronchitis, Azoospermia, Retinopathy, Otitis media, Skin rash, Respiratory tract infec... ORPHA:125
Cryptococcosis
Pneumonia, Cerebral cortical atrophy, Abnormal optic nerve morphology, Respiratory distress, Oste... ORPHA:1546
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Elevated circulating hepatic transaminase concentration, Failure to thrive, Abnorm... OMIM:608799
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif... OMIM:137940
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Enterocolitis, Nephrotic syndrom... OMIM:301108
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Portal hypertension, Splenomegaly, ... ORPHA:465508
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis ORPHA:454831
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Absent inner and outer... OMIM:614935
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Clitoral hypertrophy, Abnormal optic nerve morphology, Failure to thrive, Respirat... ORPHA:2707
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria, Hypoph... OMIM:616026
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility, Failure to thrive OMIM:619518
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea OMIM:267450
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermati... OMIM:618935
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Anemia, Proteinuria ORPHA:1192
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Weight loss, Pneumothorax, Dyspnea, Bronchiectasis ORPHA:411703
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Failure to thrive in infancy, Tachypnea, Acute infect... ORPHA:264675
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Lymphangioma, Abnormal lymphatic vessel morphology, Abnormality of the lympha... ORPHA:464329
Denys-Drash Syndrome
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma ORPHA:220
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Increased total bilirubin, Elevated cir... OMIM:608836
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo... OMIM:308750
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight OMIM:300580
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Asplenia, Male infertility OMIM:618948
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Abnormality of the liver ORPHA:254864
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Infectiou... ORPHA:549
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hyperechogenic kidneys, Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, R... OMIM:301110
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Recurrent otitis... OMIM:613808
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Dyspnea, Recurrent ... ORPHA:60033
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Pancytopenia, Elevated circulating creatine kinase concentrat... OMIM:607426
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Absent inner dynein arms, Infe... OMIM:613193
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elev... ORPHA:340
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha... OMIM:308240
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Cherry red spot of the macula, Hypersp... ORPHA:77293
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Cerebral atrophy, Hypothyroidism, Testicular atrophy, Diab... OMIM:222300
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Bifid scrotum, Respiratory distress, Cryptorchidism, Prominent scrotal raphe, Abno... ORPHA:1555
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Tachypnea, Dyspnea, Abnormal pulmon... ORPHA:178320
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal insufficiency, Proteinuri... OMIM:254900
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Hypogonadism, Hepatosplenomegaly, Azoosp... ORPHA:300298
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Cednik Syndrome
Proteinuria, Nephrotic syndrome ORPHA:66631
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, C... OMIM:612649
46,Xx Sex Reversal 2
Small scrotum, Perineal hypospadias, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Tru... OMIM:278850
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis, Elevated circulating C-reactiv... ORPHA:85414
Ciliary Dyskinesia, Primary, 29
Infertility, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Chilblains, Glomer... OMIM:619487
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab... OMIM:123550
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive ORPHA:91130
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Infertility, Bronchiectasis OMIM:615481
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Weight loss, Failure to thrive OMIM:612075
Coccidioidomycosis
Morbilliform rash, Abnormality of the spleen, Abnormality of the female genitalia, Erythema nodos... ORPHA:228123
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Mitochondrial swelling, Respiratory distress, Elevated circulating aspartate a... OMIM:615595
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia, Splenomegaly ORPHA:664
Malaria
Respiratory distress, Retinopathy ORPHA:673
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Abnormal motor nerve conduction velocity, Failure to thrive, Facial palsy OMIM:614399
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Systemic lupus erythematosus, Autoimmunity, Autoimmune hemolytic anemia, ... ORPHA:90033
Immunodeficiency 7
Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemi... OMIM:615387
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Abnormal central microtubular pair morphology of respiratory motile cilia, ... OMIM:612650
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent urinary tract infections, Recurre... OMIM:612783
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Respiratory distress, Splenomegaly, Pancreatitis, Hepatomegaly ORPHA:79312
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmunity, Sple... OMIM:616005
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea ORPHA:1832
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Bone marrow hypocellularity, Decreased circulating IgG level, Conjunctivitis, He... ORPHA:505248
Ciliary Dyskinesia, Primary, 32
Absent respiratory ciliary axoneme radial spokes, Recurrent otitis media, Chronic sinusitis, Chro... OMIM:616481
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Autoimmunit... ORPHA:449400
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Systemic lupus erythematosus, Increased circulating... ORPHA:158061
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Recurrent otitis media, Chronic sinusitis, Abdominal situs inversus, Male infertility OMIM:619607
Ring Chromosome 22 Syndrome
Azoospermia, Pleural effusion ORPHA:1446
Glycogen Storage Disease Vii
Cholelithiasis, Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentrati... OMIM:232800
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Mixed-Type Autoimmune Hemolytic Anemia
Systemic lupus erythematosus, Abnormal urinary color, Increased total bilirubin, Autoimmunity, Sk... ORPHA:90036
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... OMIM:301050
Complete Androgen Insensitivity Syndrome
Acne, Elevated circulating luteinizing hormone level, Abnormal morphology of female internal geni... ORPHA:99429
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Autoimmunity, Splen... OMIM:618398
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Pancreatic hypoplasia, Renal tubular dysfunction, Ab... ORPHA:99885
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Paraproteinemia, Elevated circulating creatinine conce... ORPHA:439232
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Abnormal renal physiology, Elevated circulating creatinine con... OMIM:274150
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Increased hepatic echogenicity, Microcytic anemia, Recurrent otitis media, ... OMIM:619525
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubulointerstitial fibrosi... ORPHA:79259
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop... OMIM:618394
Glycogen Storage Disease V
Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232600
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Hyperuricemia, Proteinuria, Abnorm... ORPHA:261222
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Lymphopenia, Decrease... OMIM:616100
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate, Systemic lupus erythematosus, Lymphopenia, Autoimmunity, A... ORPHA:760
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Recurrent pneumonia ORPHA:254875
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly, Abnormal urinary color ORPHA:90037
Bronchiolitis Obliterans
Pneumonia, Respiratory tract infection, Dyspnea, Bronchiolitis obliterans, Bronchiectasis ORPHA:1303
Succinic Acidemia
Respiratory distress OMIM:600335
Omenn Syndrome
Pneumonia, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomegaly, Anemia, Eosi... ORPHA:39041
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:157
Fanconi-Bickel Syndrome
Hypouricemia, Generalized aminoaciduria, Intrahepatic cholestasis, Ketonuria, Glycosuria, Beta 2-... OMIM:227810
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Pleural effusion, Splenomegaly ORPHA:2414
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti... OMIM:200995
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Antineutrophil antibody positivity, Decreased circulating IgG level,... OMIM:301078
Paroxysmal Cold Hemoglobinuria
Hemoglobinuria, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Abnormal urinary c... ORPHA:90035
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Optic atrophy, Elevated circulating hepatic transaminase concentration OMIM:615042
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Cyclic neutropenia, Decr... OMIM:232240
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Small for gestational age, Aspiration pneumonia, Apnea, Hypospadias, Bronchiectasis OMIM:618253
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decrea... ORPHA:713
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo... OMIM:300653
Hepatoportal Sclerosis
Anticardiolipin IgG antibody positivity, Nodular regenerative hyperplasia of liver, Periportal fi... ORPHA:64743
Spondyloenchondrodysplasia
Chronic kidney disease, Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA... ORPHA:1855
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Pancreatic hypoplasia, Exocrine pancreat... OMIM:137920
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome OMIM:161200
Carnitine Deficiency, Systemic Primary
Failure to thrive, Respiratory distress, Elevated circulating aspartate aminotransferase concentr... OMIM:212140
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia OMIM:601163
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Splenomegaly, Hepatomegaly, Pneumothorax, Erythema nodosum, Dyspnea,... OMIM:612387
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Respiratory d... OMIM:619272
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenom... ORPHA:331206
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency OMIM:166300
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Acute infectious pneumonia ORPHA:140896
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Recurrent respiratory infections, Recurrent otitis media, Chr... OMIM:615444
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Skin rash, Pustu... OMIM:612852
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Atelectasis, Absent outer dynein arms, Recurrent bronchitis, Chronic s... OMIM:244400
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas... ORPHA:228308
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia ORPHA:596
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Folinic Acid-Responsive Seizures
Optic atrophy, Frontotemporal cerebral atrophy, Cerebellar atrophy, Respiratory distress, Apnea ORPHA:79097
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Optic atrophy, Pancreatitis, Hepatomegaly ORPHA:289916
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Hyperkalemia, Hemolytic anemia, Elevated creatine kinase afte... ORPHA:57
Tularemia
Pneumonia, Cutaneous abscess, Respiratory distress, Pleural effusion, Otitis media, Skin rash, Er... ORPHA:3392
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Hepatomegaly, Chronic oral candidiasis OMIM:300400
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Pulmonary hypoplasia OMIM:616733
Leukocyte Adhesion Deficiency
Pneumonia, Cerebral atrophy, Vaginitis, Osteomyelitis, Recurrent aphthous stomatitis, Otitis medi... ORPHA:2968
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia,... OMIM:608022
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu... ORPHA:210136
Staphylococcal Necrotizing Pneumonia
Pneumonia, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, Acute infectious pneu... ORPHA:36238
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Elevated... ORPHA:368
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Autoimmunity, Polyuria OMIM:222100
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Stage 5 chronic kidney disease, Re... OMIM:242900
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria, Thrombocytopenia, Neutropenia, Macrothrombocytopenia OMIM:603585
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... ORPHA:367
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Q Fever
Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Respiratory distre... ORPHA:781
Melioidosis
Pneumonia, Foot osteomyelitis, Hepatitis, Cutaneous abscess, Parotitis, Abnormality of the spleen... ORPHA:31202
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Bone Marrow Failure Syndrome 5
Testicular atrophy, Pulmonary fibrosis, Hypogonadism OMIM:618165
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Hypouricemia, Decreased urinary urate, Recurrent urinary tract infections, Elevated ur... OMIM:613179
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Respiratory distress, Congenital hypothyroidism, Cryptorchidism, Micropenis... ORPHA:2519
Cystinosis
Nephropathy, Aminoaciduria, Renal insufficiency, Portal hypertension, Renal tubular dysfunction, ... ORPHA:213
Eosinophilic Granulomatosis With Polyangiitis
Autoimmunity, Renal insufficiency, Skin rash, Hematuria, Proteinuria, Glomerulopathy, Eosinophili... ORPHA:183
Microlissencephaly
Pneumonia ORPHA:1083
Chronic Pneumonitis Of Infancy
Intercostal retractions, Failure to thrive, Respiratory distress, Tachypnea, Hyperventilation ORPHA:91359
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo... ORPHA:100026
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Ambiguous genitalia, Pulmonary hypoplasia OMIM:617895
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t... ORPHA:26793
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Avian Influenza
Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Hepatitis, Respirat... ORPHA:454836
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Hypoalbuminemia, Biliary cirrhosis, Hypotriglyceridemia, Glycosuria, Abnorm... ORPHA:2298
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusi... OMIM:615207
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Otitis media, ... OMIM:601457
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria, Periodontitis OMIM:619269
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of... ORPHA:227990
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality of the spleen, Azoospermia,... ORPHA:2072
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Splenomegaly, Reduced hapto... OMIM:611881
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Decreased testicular size, External genital hypoplasia, Cryptorchidism ORPHA:1867
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration OMIM:620011
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:276621
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t... ORPHA:79408
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Cerebellar atrophy, Hypoplastic spleen, Abnormal retinal morphology ORPHA:89844
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Recurrent urinary tract infections, Abnormal ly... ORPHA:47612
Fanconi Anemia
Abnormality of the hypothalamus-pituitary axis, Abnormality of the uterus, Hypogonadism, Azoosper... ORPHA:84
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Large for gestational age ORPHA:45452
Senior-Loken Syndrome 8
Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas... OMIM:616307
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... OMIM:146255
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hep... OMIM:219700
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Decreased plasma free carnitin... ORPHA:228305
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Anemia, Ren... ORPHA:436271
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Dica... OMIM:201475
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Retinal dystrophy, Failure to thrive, Respirator... ORPHA:2556
Holocarboxylase Synthetase Deficiency
Perioral eczema, Eczematoid dermatitis, Respiratory distress, Keratoconjunctivitis, Tachypnea, We... ORPHA:79242
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... OMIM:305400
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis, Abnormal cranial nerve morphology ORPHA:990
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Macular edema, Elevated circulating catecholamine level, Hypertensi... ORPHA:892
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Normocytic anemia, Abnormality of the hepatic vasculature, Nodular regenerative hype... ORPHA:247691
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal... ORPHA:284426
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... OMIM:308940
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Fai... OMIM:265120
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Cocaine Intoxication
Acute kidney injury, Elevated circulating creatine kinase concentration, Hematuria, Proteinuria, ... ORPHA:90068
Tafro Syndrome
Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop... ORPHA:457077
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections OMIM:618806
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Nephritis, Pyelonephritis, Cryptorchidism, Oligozoospermia OMIM:314300
Immunodeficiency 32B
Pneumonia, Failure to thrive, Splenomegaly, Sinusitis, Hepatomegaly, Recurrent respiratory infect... OMIM:226990
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Optic atrophy, Tachypnea, Hepatomegaly OMIM:614299
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cirrhosis OMIM:613987
Farber Disease
Hepatic fibrosis, Recurrent upper respiratory tract infections, Macular degeneration, Hepatic fai... ORPHA:333
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Infectious encephalitis ORPHA:99825
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Tachypnea, Nasal flaring ORPHA:70587
Becker Muscular Dystrophy
Myoglobinuria, Elevated circulating creatine kinase concentration, Abnormal urinary color ORPHA:98895
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Caspase 8 Deficiency
Pneumonia, Eczematoid dermatitis, Failure to thrive, Splenomegaly, Recurrent sinopulmonary infect... OMIM:607271
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly, Failure to thrive ORPHA:927
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Weight loss, Neoplasm of the lung ORPHA:142
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Irregular menstruation, Respiratory distress, Recurrent otitis media, Neonatal death, Central apn... OMIM:616482
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of... ORPHA:227982
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... ORPHA:99845
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas... ORPHA:3337
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Hypouricemi... ORPHA:411634
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Respiratory distress, Hepatic steatosis, Neonatal death, Hepatomegal... OMIM:231680
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea... ORPHA:90796
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Small scrotum, Facial diplegia, Cryptorchidism, Micropenis, Recurrent respiratory infe... ORPHA:98905
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Laryngomalacia
Respiratory distress OMIM:150280
Slc35A1-Cdg
Respiratory distress, Pulmonary hemorrhage, Pneumonia ORPHA:238459
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypophosphatemic rickets, Pancreatic islet-cell hyperplasia, Increased hepatic glycog... ORPHA:263455
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Isolated Agammaglobulinemia
Pneumonia, Failure to thrive, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnorma... ORPHA:229717
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Inflammatory abnormality of... ORPHA:95455
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase c... OMIM:251900
Beare-Stevenson Cutis Gyrata Syndrome
Optic atrophy, Bifid scrotum, Respiratory distress, Prominent scrotal raphe, Hypoplastic labia ma... OMIM:123790
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Jaundice, Failure to thrive OMIM:250940
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Optic atrophy, Recurrent respiratory infections, Hepatomegaly OMIM:619383
Mirage Syndrome
Microphallus, Aspiration pneumonia, Decreased testicular size, Adrenal insufficiency, Cryptorchid... OMIM:617053
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Anemia, Ren... OMIM:220110
Cryptogenic Organizing Pneumonia
Respiratory distress, Dyspnea, Weight loss, Pneumothorax ORPHA:1302
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Autoimmunity, Hepatic steatosis, Proteinuria, Cirrhosis... ORPHA:79086
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Failure to thrive, Micronodular cirrhosis, Hepatocellular necrosis, Respiratory ... OMIM:256810
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Panhypogammaglobulinemia, Increa... OMIM:602450
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRCT, Tachypnea, Recurrent respira... OMIM:610978
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Facial palsy, Secondary ... OMIM:157640
Chitayat Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617180
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria, Highly elevated creatine kinase ORPHA:352479
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Gonadal calcifica... ORPHA:60025
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Hypers... ORPHA:1163
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Failure to thrive, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:209905
Von Hippel-Lindau Syndrome
Retinal capillary hemangioma, Pheochromocytoma, Paraganglioma, Pulmonary capillary hemangiomatosi... OMIM:193300
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,... ORPHA:30
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Respiratory distress, Episodic tachypnea... ORPHA:348
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... OMIM:603903
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive ORPHA:261304
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary hesitancy, Follicular... ORPHA:556
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Erysipelas, Ascites, Leukocytosis, Splenomegaly, Skin rash, Orchit... ORPHA:342
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Failure to thrive, Hyperactive renin-angiotensin system, Abnormal female external geni... ORPHA:90790
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Patent ductus arteriosus, Hypospadias, Cryptorchidism OMIM:217980
Hyperparathyroidism, Transient Neonatal
Splenic cyst, Unilateral renal agenesis, Enlarged kidney OMIM:618188
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir... OMIM:620375
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Antineutrophil antibody positivity, Hepatitis, Hepatosplenomegaly, Pancytopenia, Hypersplenism, P... ORPHA:228426
Nocardiosis
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Respiratory distress, Osteomyelitis, Emph... ORPHA:31204
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Wilson Disease
Hypouricemia, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Hepatomegaly, Jaundice, Decreased... OMIM:277900
Hereditary Pheochromocytoma-Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:29072
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Triosephosphate Isomerase Deficiency
Cholelithiasis, Failure to thrive, Cerebral atrophy, Respiratory distress, Cholecystitis, Splenom... OMIM:615512
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent aphthous stomatitis, Autoimmunity, Decreased circulati... ORPHA:275
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Aminoac... OMIM:219800
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Respiratory distress, Pancreatitis, Hepatomegaly, Tubulointerstitial nephritis OMIM:251000
Cystic Fibrosis
Decreased body mass index, Elevated circulating hepatic transaminase concentration, Failure to th... ORPHA:586
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Enlarged kidney, Nephroblastoma, Abnormality of the lymphatic system ORPHA:276280
Meconium Aspiration Syndrome
Respiratory distress, Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Che... ORPHA:206436
Gaucher Disease, Perinatal Lethal
Hepatic failure, Respiratory distress, Hepatosplenomegaly, Apnea, Splenomegaly, Decreased body we... OMIM:608013
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Cholestasis, Renal tubular acidosis, Hepatic steatosis, Spleno... ORPHA:264580
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy... ORPHA:447
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Retinal pigment epithelial mottling OMIM:617102
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Grade II vesico... OMIM:619377
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... OMIM:613673
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta... OMIM:277400
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Bronchitis, Cholestasis, Emphysema, Cirrhosis, Hepatomegaly, Jaundice... ORPHA:60
Interstitial Cystitis
Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... ORPHA:37202
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Renal tubular acidosis, Splenomegaly, Elevated circulating creatine kinase conc... ORPHA:79240
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Per... ORPHA:534
Combined Immunodeficiency, X-Linked
Pneumonia, Otitis media, Recurrent bronchitis, Sinusitis OMIM:312863
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi... OMIM:243910
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Hepatic necrosis, Hepatic steatosis, Dicarboxylic aciduria OMIM:231530
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... ORPHA:33001
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Respiratory distress, Dec... ORPHA:226313
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Elevated circulating hepatic transaminase concentration, Failure to... ORPHA:17
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter... OMIM:617394
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Proteinuria, Hematuria ORPHA:1765
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Cerebral atrophy, Respiratory distress, Glandular hypospadias, Pneumothorax, ... OMIM:620306
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Dyspnea ORPHA:2759
Hypoglossia With Situs Inversus
Respiratory distress, Asplenia, Polysplenia OMIM:612776
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Failure to thrive, Ch... OMIM:615486
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos... OMIM:235700
Ddost-Cdg
Nephrotic range proteinuria, Hepatic steatosis ORPHA:300536
Granulomatosis With Polyangiitis
Ureteral stenosis, Autoimmunity, Renal insufficiency, Otitis media, Skin rash, Hematuria, Protein... ORPHA:900
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia... ORPHA:64
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Autoimmunity, Nephrolith... ORPHA:405
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, C... OMIM:252500
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Weight loss, Cachexi... ORPHA:2552
Wild Type Attr Amyloidosis
Nephropathy, Renal insufficiency, Proteinuria, Hepatomegaly, Nephrotic syndrome ORPHA:330001
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Colonic eosinophilia, Bronchiectasis OMIM:617638
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Decreased response to growth hormone stimulation test, Recurrent otitis media, Pyoderm... OMIM:307200
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent upper respiratory t... ORPHA:436159
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea ORPHA:86812
Fabry Disease
Lipiduria, Renal insufficiency, Proteinuria, Left ventricular hypertrophy, Anemia, Urinary mulber... OMIM:301500
Congenital Enterovirus Infection
Hepatic failure, Hepatitis, Respiratory distress, Cholestasis, Pleural effusion, Skin rash, Infec... ORPHA:292
Chops Syndrome
Optic atrophy, Aspiration pneumonia, Obesity, Cryptorchidism, Splenomegaly, Patent ductus arterio... OMIM:616368
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Exertional dyspnea, Recurre... ORPHA:3348
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration OMIM:300559
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Renal insufficiency, Proteinuria, Glomerulopathy, Elliptocytosis, Microscopic hematuria ORPHA:86818
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Decreased circulating IgG level, Proximal tubulopathy, Hypocho... OMIM:212065
Renal Hypodysplasia/Aplasia 1
Proteinuria, Bilateral renal agenesis, Renal dysplasia OMIM:191830
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia ORPHA:2140
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Toxic Epidermal Necrolysis
Elevated circulating hepatic transaminase concentration, Abnormal vagina morphology, Respiratory ... ORPHA:537
Ear-Patella-Short Stature Syndrome
Clitoral hypertrophy, Failure to thrive, Respiratory distress, Clitoral hypoplasia, Breast aplasi... ORPHA:2554
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst... OMIM:208500
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation ORPHA:314655
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insuf... ORPHA:116
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Hyperalaninemia, Hypochromic microcytic anemia, Anemia, Increased serum pyru... OMIM:619147
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, H... ORPHA:169160
Meier-Gorlin Syndrome 1
Clitoral hypertrophy, Failure to thrive, Respiratory distress, Breast hypoplasia, Emphysema, Cryp... OMIM:224690
Prader-Willi Syndrome Due To Translocation
Cerebral cortical atrophy, Respiratory distress, Decreased response to growth hormone stimulation... ORPHA:177907
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hepatomegaly, Irregular respiration OMIM:604377
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Scleritis, Tubulointerstitial nephritis, Elevated circulati... ORPHA:91500
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress ORPHA:1143
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Mitochondrial Trifunctional Protein Deficiency 2
Hyperammonemia, Elevated circulating creatine kinase concentration, Myoglobinuria, Increased circ... OMIM:620300
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Leukopenia, Elevated circulating creatine kinase concentration, Myoglobinur... OMIM:255125
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Eczematoid dermatitis, Failure to thrive, Respiratory dist... ORPHA:83617
Distal Limb Deficiencies-Micrognathia Syndrome
Proteinuria, Renal hypoplasia, Renal insufficiency ORPHA:1307
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,... ORPHA:699
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Jaundice OMIM:614231
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... ORPHA:90038
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice ORPHA:464370
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Thyroid Lymphoma
Respiratory distress, Dyspnea, Hashimoto thyroiditis ORPHA:97285
Esophageal Atresia
Bronchitis, Respiratory distress, Failure to thrive in infancy, Esophagitis, Episodic respiratory... ORPHA:1199
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... OMIM:602522
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... OMIM:620138
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep... ORPHA:488627
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Hyperbilirubinemia, Mild proteinuria, Increased serum bile acid concent... OMIM:619685
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive ORPHA:544503
Neuroleptic Malignant Syndrome
Acute kidney injury, Hyperphosphatemia, Aspiration pneumonia, Hypomagnesemia, Leukocytosis, Hypoc... ORPHA:94093
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dicar... ORPHA:71212
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency ORPHA:2715
Common Variable Immunodeficiency
Pneumonia, Elevated circulating hepatic transaminase concentration, Bronchiectasis, Failure to th... ORPHA:1572
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgE, Ascites, Decreased circulating IgA le... OMIM:615758
Kniest Dysplasia
Respiratory distress, Recurrent otitis media, Retinal detachment OMIM:156550
Bronchial Neuroendocrine Tumor
Pneumonia, Hepatic failure, Hepatomegaly, Weight loss, Dyspnea, Abnormal pulmonary interstitial m... ORPHA:97287
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Osteoglophonic Dysplasia
Failure to thrive, Respiratory distress, Cryptorchidism, Chordee, Hypospadias OMIM:166250
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... ORPHA:47159
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Meacham Syndrome
Horseshoe kidney, Enlarged kidney, Accessory spleen OMIM:608978
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea, Failure to thrive OMIM:237310
Ramos-Arroyo Syndrome
Keratitis, Respiratory distress, Choriocapillaris atrophy, Chorioretinal atrophy, Decreased body ... ORPHA:1051
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Failure ... OMIM:614700
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Type II diabetes m... ORPHA:99413
Mosaic Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Type II diabetes m... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Type II diabetes m... ORPHA:99226
Turner Syndrome
Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Type II diabetes m... ORPHA:881
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Hematuria, Proteinuria, Hepatom... ORPHA:77261
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Resp... OMIM:617156
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Respiratory distress, Respiratory tract infection, Elevated circulating alanin... ORPHA:308552
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Prolonged G2 phase of cell cycle, Small for gestational age, Hy... OMIM:227650
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Pneumonia, Periodontitis, Bronchiolitis OMIM:266265
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria, Micronodular cirrhosis OMIM:192315
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Polysplenia, Abdominal situs inversus, Horseshoe kidney, Biliary atresia, Cardiom... OMIM:306955
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Cholestasis, Hyperammonemia, Elevated circulati... OMIM:609015
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Keratitis, Aspiration pneumonia, Stage 5 chronic kidney dise... ORPHA:1018
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent sinusitis, Recurrent respiratory in... ORPHA:217390
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Nocturnal hypoventilation, Dyspnea, Recurrent respiratory infections, Facia... OMIM:211530
Infantile Nephropathic Cystinosis
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... ORPHA:411629
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Renal insufficiency, Ep... ORPHA:728
Scedosporiosis
Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Pulmonar... ORPHA:449280
Fusariosis
Pneumonia, Keratitis, Fasciitis, Abnormality of the spleen, Abnormality of the liver, Osteomyelit... ORPHA:228119
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Dyspnea, Pulmonary edema OMIM:115197
Renal Nutcracker Syndrome
Renal artery stenosis, Hematuria, Proteinuria, Anemia, Microscopic hematuria ORPHA:71273
Gitelman Syndrome
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Hypomagnesemia, Gout, Renal tubula... ORPHA:358
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Nephroblastoma, Renal malrotat... ORPHA:500095
Leprechaunism
Nephrocalcinosis, Long penis, Hypokalemia, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarg... ORPHA:508
Adnp Syndrome
Recurrent upper respiratory tract infections, Cerebral atrophy, Respiratory distress, Cryptorchid... ORPHA:404448
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Infl... ORPHA:3260
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the bladder, Abnormal renal artery morphology, Hepatic cysts, ... ORPHA:79328
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Failure to thrive, Pulmonary hypoplasia ORPHA:3309
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Failure to thrive, Ce... ORPHA:79282
Listeriosis
Pneumonia, Arteritis, Septic arthritis, Respiratory distress, Osteomyelitis, Pyelonephritis, Chol... ORPHA:533
Shwachman-Diamond Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Respiratory distress,... OMIM:260400
Graft Versus Host Disease
Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t... ORPHA:39812
Fanconi Anemia, Complementation Group F
Pneumonia, Failure to thrive, Microphallus, Decreased response to growth hormone stimulation test... OMIM:603467
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Lung abscess, Dyspnea, Recurrent respiratory ... OMIM:610910
Pheochromocytoma
Proteinuria, Renal artery stenosis, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171300
Sepsis In Premature Infants
Decreased liver function, Splenomegaly, Decreased body weight, Hepatomegaly, Enterocolitis, Dyspn... ORPHA:90051
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease, Abnormal spleen morphology, Keratoconjunctivitis sicca ORPHA:85448
Arboleda-Tham Syndrome
Optic atrophy, Recurrent aspiration pneumonia, Bilateral cryptorchidism, Respiratory distress, Re... OMIM:616268
Primary Biliary Cholangitis
Cirrhosis, Increased circulating IgA level, Hepatomegaly, Jaundice, Ascites, Abnormal intrahepati... ORPHA:186
Hellp Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin con... ORPHA:244242
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Chronic sinusitis ORPHA:137914
Kawasaki Disease
Hypoalbuminemia, Hepatitis, Sterile pyuria, Conjunctivitis, Cervical lymphadenopathy, Leukocytosi... ORPHA:2331
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Pigmentary retinopathy, Hepatic failure, Failure to thrive, Apnea, Episodic respir... ORPHA:255210
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Hepatomegaly, Failure to thrive OMIM:251110
Ogden Syndrome
Polycythemia, Eczematoid dermatitis, Recurrent otitis media, Hyperbilirubinemia, Microvesicular h... OMIM:300855
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pulmonary edema, Pneumonia, Pancreatitis ORPHA:70578
Immunoglobulin A Vasculitis
Renal insufficiency, Episcleritis, Skin rash, Infectious encephalitis, Hematuria, Proteinuria, Gl... ORPHA:761
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Increased circulating IgE level, Increased circulating IgG4 level, ... ORPHA:449432
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Failure to thrive, Chronic mucocutaneous candidiasis, Hepatosplenomegal... ORPHA:911
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Biotinidase Deficiency
Optic atrophy, Eczematoid dermatitis, Respiratory distress, Apnea, Skin rash, Conjunctivitis, Hyp... ORPHA:79241
Lesch-Nyhan Syndrome
Testicular atrophy, Podagra OMIM:300322
Schinzel-Giedion Syndrome
Cerebral cortical atrophy, Recurrent pneumonia, Annular pancreas, Central hypothyroidism, Respira... ORPHA:798
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress ORPHA:100057
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Retinal pigment epithelial mottling, Respirator... OMIM:618733
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia, Hepatic steatosis OMIM:616271
Acquired Methemoglobinemia
Respiratory distress, Dyspnea ORPHA:464453
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Hepatomegaly, Failure to thrive OMIM:251100
Xfe Progeroid Syndrome
Proteinuria, Renal insufficiency, Ascites, Hypoalbuminemia OMIM:610965
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Chronic mucocutaneous candidiasis, Failure to thrive, Skin rash, Recurrent cutaneous f... ORPHA:276
Martin-Probst Syndrome
Pancytopenia, Renal insufficiency, Proteinuria, Chordee, Micropenis OMIM:300519
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia OMIM:202650
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney, Ascites OMIM:261740
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... ORPHA:95430
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatitis, Decreased HDL cholesterol concentration, Increased... ORPHA:355
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Abnormal circulating calcium-phosphate regulating hormone concentration, Hy... ORPHA:50810
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Anemia, Increased blood urea nitrogen, Hepatomegaly, Conjunctiv... ORPHA:90321
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Tetanus
Respiratory distress, Autonomic bladder dysfunction, Tachypnea, Abnormal autonomic nervous system... ORPHA:3299
Ohdo Syndrome
Proteinuria OMIM:249620
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased glomerular filtration rate, Renal ... OMIM:614748
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundic... ORPHA:99827
Rubinstein-Taybi Syndrome 1
Accessory spleen, Recurrent upper respiratory tract infections, Small for gestational age, Failur... OMIM:180849
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Failure to thrive, Chronic bronchitis, Sinusitis, Bronchiectasis OMIM:242860
Pachyonychia Congenita
Respiratory distress, Angular cheilitis, Failure to thrive ORPHA:2309
Mgat2-Cdg
Failure to thrive, Respiratory distress, Hypoplastic nipples, Patent ductus arteriosus, Abnormali... ORPHA:79329
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Recurrent otitis media, Multiple bladder diverticula ORPHA:2728
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Retinal detachment, Vitreoretinopathy OMIM:183900
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration OMIM:607155
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Cornelia De Lange Syndrome 1
Pneumonia, Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflu... OMIM:122470
Alfadhel Syndrome
Nasal flaring OMIM:620655
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress OMIM:620166
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Intercostal retractions, Paroxysmal dyspnea, Episodic respirat... ORPHA:141083
Complete Atrioventricular Septal Defect
Recurrent pneumonia, Intercostal retractions, Failure to thrive, Tachypnea, Hepatomegaly ORPHA:1329
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Respiratory distress, Absent gallbladder, Aganglionic megacolon, Asplenia, Pate... ORPHA:210122
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... ORPHA:2614
Cardiac-Urogenital Syndrome
Accessory spleen, Hepatopulmonary fusion, Penoscrotal hypospadias, Micropenis, Patent urachus, En... OMIM:618280
Lujo Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Atelectasis, Respiratory distress, Skin ... ORPHA:319213
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Exertional dyspnea, Recurrent lower respiratory tract infe... ORPHA:98915
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Tuberous Sclerosis Complex
Chorioretinal hypopigmentation, Pituitary adenoma, Respiratory distress, Pheochromocytoma, Retina... ORPHA:805
Fabry Disease
Nephropathy, Abnormal circulating lipid concentration, Renal insufficiency, Hyperlipidemia, Hemat... ORPHA:324
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Acute kidney injury, Oliguria, Septic arthritis, Anuria, Brain abscess, Leukocytosis, ... ORPHA:544482
Japanese Encephalitis
Decreased motor nerve conduction velocity, Abnormal pattern of respiration, Respiratory distress,... ORPHA:79139
Alpha-Mannosidosis, Adult Form
Pneumonia, Cerebral cortical atrophy, Cerebellar atrophy, Hepatosplenomegaly, Optic disc pallor, ... ORPHA:309288
Immunodeficiency 92
Pneumonia, Osteomyelitis, Esophagitis, Sclerosing cholangitis, Hepatomegaly, Cholangitis OMIM:619652
Melas
Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Proteinuria, Recurrent pan... ORPHA:550
Steinert Myotonic Dystrophy
Cerebral cortical atrophy, Male hypogonadism, Cholelithiasis, Elevated circulating hepatic transa... ORPHA:273
Glycogen Storage Disease Due To Acid Maltase Deficiency
Failure to thrive, Atelectasis, Respiratory distress, Respiratory tract infection, Exertional dys... ORPHA:365
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Degeneration of anterior horn cells OMIM:271225
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Abnormality of thyroid physiology, Unilateral breast hypoplasia, Recurrent ... OMIM:300968
Bardet-Biedl Syndrome 20
Proteinuria, Pancreatitis, Micropenis, Hypercholesterolemia OMIM:619471
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Chronic bronchitis OMIM:614069
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft... ORPHA:423
Craniofaciofrontodigital Syndrome
Respiratory distress, Large for gestational age, Dyspnea ORPHA:363705
Leptospirosis
Uveitis, Hepatitis, Respiratory distress, Pulmonary hemorrhage, Macular cotton wool spot, Chorior... ORPHA:509
Pmm2-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hyp... ORPHA:79318
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... ORPHA:51636
Scimitar Syndrome
Pulmonary artery hypoplasia, Bronchogenic cyst, Respiratory distress, Pneumothorax, Partial anoma... ORPHA:185
Donnai-Barrow Syndrome
Proteinuria, Non-acidotic proximal tubulopathy OMIM:222448
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Failure to thrive, Respiratory distress, Apnea, Recurrent lower respiratory tract infec... OMIM:618426
Congenital Disorder Of Deglycosylation 1
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Respiratory distress, ... OMIM:615273
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hepatomegaly, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... OMIM:223900
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Enlarged kidney, Recurrent urinary tract infections OMIM:615873
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema, Chylothorax, Pleural effusion OMIM:617300
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, M... ORPHA:79078
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, Elevated circulating... OMIM:616878
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Respiratory distress, Splenomegaly, Hepatomegaly, Vaginal atresia, Patent ductu... OMIM:617088
Omenn Syndrome
Pneumonia, Failure to thrive, Splenomegaly, Erythroderma, Hepatomegaly OMIM:603554
Ulbright-Hodes Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Respiratory distress, Enlarged labia minora, Cry... ORPHA:3404
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:206549
Campomelic Dysplasia
Recurrent upper respiratory tract infections, Failure to thrive, Respiratory distress, Apnea, Rec... OMIM:114290
Doors Syndrome
Optic atrophy, Aspiration pneumonia, Respiratory distress, Congenital hypothyroidism, Adrenal hyp... ORPHA:79500
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Left ventricular hypertrophy, Hypertriglyceridem... OMIM:619127
Wagro Syndrome
Proteinuria, Nephroblastoma OMIM:612469
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Dyspnea, Pleural effusion ORPHA:3015
Congenital Myasthenic Syndrome
Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Recurren... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Recurren... ORPHA:98914
Neuroblastoma
Respiratory distress, Elevated circulating catecholamine level, Weight loss, Horner syndrome ORPHA:635
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Failure to thrive, Atypical or prolonged hepatitis, Sinusitis, ... ORPHA:83471
Roifman-Chitayat Syndrome
Pneumonia, Optic atrophy, Arthritis OMIM:613328
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Respiratory distress, Peripapillary atrophy, Repeated pneumothoraces, Pulmonary hypo... ORPHA:536467
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Periodontitis, Recurrent aphthous stomatitis, Recurrent sinopulmonary infections, Rhin... ORPHA:486
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Polysplenia, Splenomegaly, Nephroblastoma, Pancreatic islet-cell hyp... OMIM:312870
Shigellosis
Pneumonia, Hepatic failure, Ulcerative colitis, Failure to thrive in infancy, Cholestasis, Perito... ORPHA:810
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Bronchitis, Otitis media, Recurrent sinusitis, Chronic sinusitis,... ORPHA:420741
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Malar rash, Renal insufficiency, Splenomegaly, Hyper... ORPHA:191
Liver Disease, Severe Congenital
Portal inflammation, Recurrent otitis media, Hepatic steatosis, Pulmonary edema, Abnormal hepatic... OMIM:619991
Congenital Syphilis
Pneumonia, Optic atrophy, Keratitis, Hepatosplenomegaly, Chorioretinitis, Synovitis, Prolonged ne... ORPHA:499009
Plague
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Respiratory distress, Splenomega... ORPHA:707
Floating-Harbor Syndrome
Varicocele, Atopic dermatitis, Glandular hypospadias, Recurrent otitis media, Cryptorchidism, Epi... OMIM:136140
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Failure to thrive, Obesity, Retinopathy, Cryptorchidism, Otitis media, Recurrent respi... ORPHA:353281
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Global brain atrophy, Small for gestational age, Abnormal lung lobat... ORPHA:508488
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Neonatal insulin-dependent diabetes mellitus, Small for gestational ... ORPHA:2255
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Chronic otitis media, Pneumonia, Splenomegaly ORPHA:169090
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Patent ductus arteriosus OMIM:612863
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia OMIM:613848
Achondroplasia
Respiratory distress, Recurrent otitis media, Pulmonary hypoplasia OMIM:100800
Proteus Syndrome
Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries... ORPHA:744
Arterial Tortuosity Syndrome
Respiratory distress, Esophagitis, Pulmonary artery stenosis, Myocarditis, Dyspnea ORPHA:3342
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Exocrine pancreatic insufficiency, Renal insufficiency, Proteinuria... ORPHA:2750
Cockayne Syndrome A
Renal insufficiency, Splenomegaly, Thymic hormone decreased, Proteinuria, Hepatomegaly, Micropenis OMIM:216400
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Failure to thrive, Abnormal autonomic nervous system physiology ORPHA:2131
Geleophysic Dysplasia 3
Dyspnea, Hepatomegaly, Pneumonia OMIM:617809
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Cryptorchidism, Epididymal cyst, Hypospadias, Small for gestation... ORPHA:2044
Degcags Syndrome
Pneumonia, Small for gestational age, Failure to thrive, Cholestasis, Hepatosplenomegaly, Cryptor... OMIM:619488
Holoprosencephaly
Abnormality of the urinary system, Abnormality of the spleen, Proteinuria, Hyponatremia, Hypoplas... ORPHA:2162
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Failure to thrive, Respiratory distress, Pyoderma, Pneumothorax, Gastrointestinal infl... ORPHA:79404
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Cockayne Syndrome B
Renal insufficiency, Splenomegaly, Proteinuria, Hepatomegaly, Micropenis OMIM:133540
Orofaciodigital Syndrome I
Hepatic fibrosis, Hepatic cysts, Proteinuria, Pancreatic cysts, Polycystic kidney dysplasia OMIM:311200
Noonan Syndrome 1
Chylothorax, Hypogonadism, Failure to thrive in infancy, Cryptorchidism, Synovitis, Hypospadias, ... OMIM:163950
Timothy Syndrome
Pneumonia, Patent ductus arteriosus, Hypothyroidism, Bronchitis OMIM:601005
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Stage... OMIM:309000
Rodrigues Blindness
Nasal flaring OMIM:268320
Hennekam-Beemer Syndrome
Pneumonia, Optic atrophy, Failure to thrive ORPHA:2135
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Anoperineal fistula, Hepatitis, Pustular rash, Bronchitis, Recurrent otitis media, Ost... OMIM:619381
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Splenomegaly, Hepatic steatosis, Chi... OMIM:615846
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Eczematoid dermatitis, Respiratory distress, Aplasia/Hypoplastia of the eccrine sw... OMIM:305100
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Episodic respiratory distress, Pulmonary edema, Gastritis, Tachy... ORPHA:31826
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Chylothorax OMIM:620278
Pfeiffer Syndrome Type 2
Respiratory distress ORPHA:93259
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Kasabach-Merritt Phenomenon
Respiratory distress, Hepatic hemangioma, Hypopnea ORPHA:2330
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Pfeiffer Syndrome Type 3
Respiratory distress ORPHA:93260
Generalized Arterial Calcification Of Infancy
Choroidal neovascularization, Respiratory distress, Failure to thrive in infancy, Adrenal calcifi... ORPHA:51608
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Recurrent otitis medi... OMIM:600802
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea ORPHA:100050
Oculopharyngodistal Myopathy 1
Respiratory distress, Facial palsy, Weight loss, Brain atrophy OMIM:164310
Colchicine Poisoning
Respiratory distress, Myocarditis ORPHA:31824
Congenital Tracheal Stenosis
Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmonary artery from asce... ORPHA:141127
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, Respiratory distress, Apne... ORPHA:99125
Williams Syndrome
Chronic otitis media, Cholelithiasis, Renal insufficiency, Renal duplication, Multiple renal cyst... ORPHA:904
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia OMIM:253700
Shwachman-Diamond Syndrome
Pneumonia, Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Pancre... ORPHA:811
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Hypothyroidism, Abnormal autonomic nervous system physiology, Ectopi... ORPHA:3206
Aymé-Gripp Syndrome
Proteinuria, Pericarditis ORPHA:1272
Alpha-Mannosidosis, Infantile Form
Pneumonia, Cerebral cortical atrophy, Cerebellar atrophy, Hepatosplenomegaly, Otitis media, Optic... ORPHA:309282
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys... OMIM:158310
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Brain atrophy, Hypoplastic nipples, Delayed puberty, Abnormal circulating t... ORPHA:480880
Eisenmenger Syndrome
Bacterial endocarditis, Respiratory distress, Abnormality of the liver, Aortopulmonary window, Ex... ORPHA:97214
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Long penis, Failure to thrive, Cryptorchidism, Hypoplasia of the thymus, Increased ser... OMIM:264090
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Juvenile rheumatoid... OMIM:607944
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea, Aortopulmonary window ORPHA:2299
Atrial Septal Defect, Coronary Sinus Type
Dyspnea, Pneumonia, Exertional dyspnea, Anomalous pulmonary venous return ORPHA:99104
Bickerstaff Brainstem Encephalitis
Pneumonia, Facial paralysis, Decreased motor nerve conduction velocity, Abnormality of the autono... ORPHA:79138
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Failure to thrive, Obesity, Cryptorchidism, Otitis media, Recurrent respiratory infect... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Failure to thrive, Obesity, Cryptorchidism, Otitis media, Recurrent respiratory infect... ORPHA:353277
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity, Nasal flaring ORPHA:466943
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Recurrent upper respiratory tract infections, Pneumonia, Splenomegaly OMIM:253200
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Orthopnea, Pneumonia ORPHA:99103
Isolated Arrhinia
Respiratory distress ORPHA:1134
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Respiratory tract infection, Infectious encephalitis, Pustule, Abnormality of the adre... ORPHA:68
Cleidocranial Dysplasia 1
Respiratory distress OMIM:119600
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia, Failure to thrive 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

The IMPC Newsletter

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

Subscribe to newsletter