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Gene: Bsg MGI:88208

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Bsg mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... OMIM:617006
Young Syndrome
Obstructive azoospermia, Recurrent bronchitis, Recurrent sinopulmonary infections, Decreased fert... ORPHA:3471
Systemic Lupus Erythematosus 16
Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib... OMIM:614420
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Complete or near-complete absence of specific antibody response to... OMIM:613496
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... OMIM:610725
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent tonsillitis, Nephrotic syndrome, Recurrent pneumonia, Systemic lupus erythematosus, Mem... OMIM:613779
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, C3 nephritic factor positivity, Glomerular subendothelial electron-dense dep... ORPHA:54370
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Anti-U1 ribonucleoprotein antibody positivity, Anti-dsDNA antibody... OMIM:619375
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd... OMIM:617609
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Coenzyme Q10 Deficiency, Primary, 6
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... OMIM:614650
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis... OMIM:618594
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo... OMIM:615861
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros... OMIM:256370
Nephrotic Syndrome, Type 12
Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa... OMIM:616892
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney d... OMIM:615559
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ... ORPHA:656
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Arthritis, Skin rash, Abnormal glomerular mesangiu... ORPHA:567544
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Recurrent otitis media, Microcephalic sperm head, Abnorma... OMIM:301101
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest... ORPHA:567548
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... OMIM:617610
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... OMIM:614196
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoa... OMIM:615244
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level, Hematuria, Glomerulonephritis OMIM:314000
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
Young Syndrome
Azoospermia, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopulmon... OMIM:279000
C3 Glomerulopathy
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, C3 nephritic facto... ORPHA:329918
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi... OMIM:620536
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Bardet-Biedl Syndrome 16
External genital hypoplasia, Recurrent otitis media, Recurrent respiratory infections, Respirator... OMIM:615993
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Malar rash, Arthritis, Pericarditis, Nephritis, Antinuclear... OMIM:152700
Reni Syndrome
Hypertriglyceridemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephr... OMIM:617575
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hematuria, Nephrotic syndrome, Proteinuria, Membranopro... OMIM:608709
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Reticular pattern on pulmonary HRCT, Respiratory distress, Paraseptal emphyse... OMIM:610921
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
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Renal tubul... OMIM:256300
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp... OMIM:615285
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Arthritis, Crescentic glomerulonephritis, ... OMIM:616414
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r... OMIM:615573
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Complement Component 4A Deficiency
Systemic lupus erythematosus, Glomerulonephritis OMIM:614380
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
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, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia... OMIM:610913
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul... OMIM:601894
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Pancytopenia, Chilblains, G... OMIM:619858
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hyp... OMIM:613092
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis OMIM:613913
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot... OMIM:618176
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Nephrotic Syndrome, Type 2
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... OMIM:600995
Interstitial Lung Disease 1
Intralobular septal thickening, Nonspecific interstitial pneumonia, Dyspnea, Elevated bronchoalve... OMIM:619611
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Tubular luminal dilatation, Cirrhosis, Hepatocellular carcinoma, Renal... OMIM:619902
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Lymphocytic interstitial pneumonia, Respiratory distress OMIM:245590
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Eczematoid dermatitis, Nep... OMIM:618348
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag... OMIM:603965
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 17
Male infertility OMIM:617214
Hyperprolinemia Type 1
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria ORPHA:419
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Hepatomegaly, Galactosuria, Increase... OMIM:230400
Autoimmune Hepatitis
Increased circulating antibody level, Sclerosing cholangitis, Ascites, Splenomegaly, Diffuse hepa... ORPHA:2137
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process e... OMIM:619609
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... OMIM:137950
Nephrotic Syndrome, Type 24
Steroid-resistant nephrotic syndrome, Renal cortical hyperechogenicity, Focal segmental glomerulo... OMIM:619263
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia, Obesity, Hepatic steatosis OMIM:615703
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Diffuse me... OMIM:617730
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Ascites, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Prot... OMIM:603278
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Chronic Beryllium Disease
Hypersensitivity pneumonitis, Dyspnea, Weight loss, Pulmonary fibrosis, Lymphocytic interstitial ... ORPHA:133
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle... OMIM:613237
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Iga Nephropathy, Susceptibility To, 3
Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr... OMIM:616818
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency OMIM:607832
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreased circulating IgG... OMIM:102700
Idiopathic Pulmonary Hemosiderosis
Anti-smooth muscle antibody positivity, Hepatomegaly, Iron deficiency anemia, Rheumatoid factor p... ORPHA:99931
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Arthritis, Infertility, Splenomegaly, Amenorrhea, Hypogonad... OMIM:602390
Iga Nephropathy, Susceptibility To, 2
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:613944
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Elevated... ORPHA:449395
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Mild proteinuria, Glom... OMIM:614377
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Hepatosplenomegaly, Colon... OMIM:618999
Acquired Partial Lipodystrophy
Glomerulopathy, Lymphocytosis, Microscopic hematuria, Proteinuria, Autoimmunity, Hepatic steatosis ORPHA:79087
Deleted in azoospermia
Azoospermia OMIM:400003
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta... OMIM:161900
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Chronic rhinitis, Recurrent sinusitis, R... OMIM:620438
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Reduced pr... OMIM:620356
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
Pneumocystosis
Chronic oral candidiasis, Exertional dyspnea, Acute infectious pneumonia, Pleural effusion, Dyspn... ORPHA:723
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria OMIM:614199
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Skin rash, Cholestasis, Nephrotic syndrome, Proteinuria, Renal amyloidos... OMIM:105200
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Jaundice, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Increas... OMIM:304790
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Hepatomegaly, Failure to thrive, Splenomegaly, Recurrent respiratory infe... OMIM:618495
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Nail-Patella-Like Renal Disease
Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2613
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Macrovesicular hepatic steatosis, Hepatomegaly,... OMIM:616433
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Thyroiditis, Skin rash, Dys... ORPHA:139402
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
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei... OMIM:301006
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Pauci-Immune Glomerulonephritis
Acute kidney injury, Elevated circulating creatinine concentration, Pancreatitis, Decreased glome... ORPHA:93126
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Weight loss, Aspiration pneumonia, Respiratory distress ORPHA:141152
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Elevated circulating C-reactive protei... OMIM:619644
Spinocerebellar Ataxia Type 32
Male infertility, Cerebellar atrophy, Testicular atrophy, Azoospermia ORPHA:276183
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur... ORPHA:84090
Spinocerebellar Ataxia 32
Infertility, Cerebellar atrophy, Testicular atrophy, Azoospermia OMIM:613909
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Nephrotic Syndrome, Type 22
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem... OMIM:619155
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem... OMIM:104200
Nephrotic Syndrome, Type 26
Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s... OMIM:620049
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Lymphopenia, Splenomegaly, ... ORPHA:444463
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Hepatomegaly, Elevated circulating creatinine concentration... OMIM:614376
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... OMIM:614817
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections OMIM:620296
Stt3B-Cdg
Optic atrophy, Respiratory distress, Cerebellar atrophy, Failure to thrive, Small scrotum, Crypto... ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Respiratory distress, Cerebellar atrophy, Failure to thrive, Small scrotum, Crypto... OMIM:615597
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Iga Nephropathy, Susceptibility To, 1
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:161950
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Thrombocytopenia, Proteinuria, Microangiopathic hemolytic anemia ORPHA:2134
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Hepatic fibr... OMIM:604387
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Ascites, Focal segmental glomerulosclerosis, M... ORPHA:567546
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:618349
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... OMIM:615382
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Abnormal blood ion concentration, Psoriasiform dermatitis, Neutropenia, Hypocalcemi... ORPHA:37042
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Igg4-Related Retroperitoneal Fibrosis
Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory infiltrate, Elevated cir... ORPHA:49041
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Elevated circulating creatine kinase concentration, Stage 5 chronic kidney disease, Proteinuria, ... OMIM:614455
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Imerslund-Grasbeck Syndrome 2
Anemia, Recurrent urinary tract infections, Megaloblastic anemia, Proteinuria, Renal insufficienc... OMIM:618882
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Nephropathy, Focal segmental glomerulosclerosis, IgA deposition in the glomerulus OMIM:182690
48,Xxyy Syndrome
Chronic otitis media, Azoospermia, Hypoplasia of penis, Infertility, Hypergonadotropic hypogonadi... ORPHA:10
47,Xyy Syndrome
Congenital stationary night blindness, Male infertility, Hypospadias, Increased serum testosteron... ORPHA:8
Focal Segmental Glomerulosclerosis 9
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
49,Xyyyy Syndrome
External genital hypoplasia, Increased circulating gonadotropin level, Azoospermia, Abnormality o... ORPHA:99330
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He... OMIM:235200
Pleural Mesothelioma
Hepatomegaly, Respiratory distress, Pleural effusion, Dyspnea, Abnormal lung morphology, Weight l... ORPHA:50251
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Increased circulating antibody level, Anemia, Lymphadenopa... ORPHA:100024
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Anti-smooth muscle antibody positivity, Increased circulating IgG level, Nephritis,... OMIM:603909
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... OMIM:602088
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Infertility, Recurrent sinusitis, Bronchiectasis, Immotile sperm OMIM:618449
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Cholestasis, Nephr... ORPHA:85445
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent lower respiratory tract infections, Interstitial pneumonitis, Eczematoid dermatitis, He... OMIM:615952
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Decreased glomerular ... ORPHA:470
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:620565
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pleuritis, Ar... ORPHA:829
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can... OMIM:613953
Galloway-Mowat Syndrome 9
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis OMIM:619603
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Obesity, Azoospermia ORPHA:2183
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia, Proteinuria, ... OMIM:245900
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of... ORPHA:432
Thymoma
Aplastic anemia, Myositis, Decreased circulating antibody level, Rheumatoid arthritis, Pure red c... ORPHA:99867
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, T lymphocytopenia, Bone marro... ORPHA:443811
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Renal Dysplasia
Pelvic mass, Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary inco... ORPHA:93108
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Hematuria, Anemia, Arthritis, Proteinuria, Autoimmunity, Renal insufficiency ORPHA:375
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Anti-smooth muscle antibody positivity, Increased circulating IgG level, Antinuclea... OMIM:601859
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Male infertility, Recurrent sinusitis, Bronchiectasis, Recurrent respirator... OMIM:300991
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
48,Xyyy Syndrome
Azoospermia, Acne, Primary gonadal insufficiency, Male hypogonadism, Recurrent upper respiratory ... ORPHA:99329
Trimethylaminuria
Trimethylaminuria, Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Spermatogenic Failure 14
Male infertility, Round spermatid arrest, Azoospermia OMIM:615842
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Enterocolitis, Recurrent sinopulmonary infections, Interstitial pneumonitis, Ulcer... OMIM:614878
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Proteinuria, Glomerulonephritis OMIM:619428
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Acne, Macroorchidism ORPHA:3000
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Anemia, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Immunodeficiency 95
Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Simple Cryoglobulinemia
Abnormality of the kidney, Monoclonal elevation of IgG, Chronic lymphatic leukemia, Arthritis, Mo... ORPHA:91139
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis... ORPHA:1830
Diffuse Alveolar Hemorrhage
Hematuria, Anemia, Antiphospholipid antibody positivity, Leukocytosis, Rheumatoid factor positive... ORPHA:90060
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... ORPHA:1916
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Absent outer dynein arms, Pneumonia, Recurrent otitis media, Male infertili... OMIM:612444
Galactosemia Iii
Hepatomegaly, Jaundice, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria OMIM:230350
Immunodeficiency 104
Recurrent otitis media, Hepatomegaly, Failure to thrive secondary to recurrent infections, Chroni... OMIM:608971
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Thrombocytosis, Elevated circulating C-reactive protein concentration, L... OMIM:614034
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Azoospermia, Infertility, Chronic rhinitis, Chronic sinusitis OMIM:618300
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Gaucher Disease Type 2
Hepatomegaly, Respiratory distress, Splenomegaly, Abnormal pattern of respiration, Recurrent resp... ORPHA:77260
Systemic Sclerosis
Anti-RNA-polymerase-III-autoantibody positivity, Abnormality of the kidney, Acute kidney injury, ... ORPHA:90291
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress OMIM:254120
Ciliary Dyskinesia, Primary, 45
Male infertility, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Absent inne... OMIM:618801
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... ORPHA:839
Cystic Echinococcosis
Cholestatic liver disease, Hepatomegaly, Jaundice, Increased circulating antibody level, Abnormal... ORPHA:400
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hyperuricemia,... OMIM:232220
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Mercury Poisoning
Interstitial pneumonitis, Dyspnea, Respiratory distress ORPHA:330021
Al Amyloidosis
Renal interstitial amyloid deposits, Abnormality of the kidney, Hepatomegaly, Anemia, Increased c... ORPHA:85443
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Macrosc... ORPHA:251004
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Myotonic Dystrophy 1
Cerebral atrophy, Cholelithiasis, Respiratory distress, Facial diplegia, Hypogonadism, Testicular... OMIM:160900
Systemic Lupus Erythematosus
Cheilitis, Hematuria, Lymphadenopathy, Pyuria, Anti-U1 ribonucleoprotein antibody positivity, Mal... ORPHA:536
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Infertility, Sinusitis, Otitis media, Bronchiectasis, Recurrent respiratory... OMIM:606763
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbuminem... OMIM:617729
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot... ORPHA:280679
Familial Nasal Acilia
Atelectasis, Respiratory distress, Dyspnea, Chronic rhinitis, Abnormal respiratory motile cilium ... ORPHA:922
Complement Factor I Deficiency
Recurrent otitis media, Recurrent urinary tract infections, Recurrent sinusitis, Septic arthritis... OMIM:610984
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly ORPHA:231154
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul... OMIM:617303
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Pediatric Systemic Lupus Erythematosus
Skin rash, Discoid lupus rash, Ascites, Leukopenia, Dark urine, Lymphopenia, Nephritis, Antinucle... ORPHA:93552
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Chronic mucocutaneous candidias... OMIM:615816
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Recurr... OMIM:617091
Lymphatic Filariasis
Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Kn... ORPHA:2035
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Hemolytic anemia... OMIM:614470
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, Decreased circulating antibody level, T lymp... OMIM:617514
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, El... OMIM:617056
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Isolated Atp Synthase Deficiency
Optic atrophy, Hepatomegaly, Respiratory distress, Cerebellar atrophy, Hypothyroidism, Cerebral c... ORPHA:254913
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Atelectasis, Respiratory distress, Bronchiectasis, Recurrent respiratory in... OMIM:619466
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Hypospadias, Respiratory distress OMIM:300934
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Polysplenia, Recurr... OMIM:613807
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Recurrent sinusitis, Bronchiectasis, Recurrent respirator... OMIM:620197
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Reticulocytosis, Decreased serum creatinine, Thrombocytopenia, Pr... ORPHA:54057
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Macronodular cirrhosis, Pr... OMIM:215250
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Failure to thrive, Recurrent upper respirat... OMIM:263000
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:617731
Dyskeratosis Congenita, Autosomal Dominant 1
Cirrhosis, Dyspnea, Hepatic necrosis, Pulmonary fibrosis, Interstitial pneumonitis OMIM:127550
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
8P11.2 Deletion Syndrome
Retinal dystrophy, Azoospermia, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary ax... ORPHA:251066
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Hypoplasia of the uterus, Female infertility OMIM:617442
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Generalized aminoaciduria ORPHA:882
Immunodeficiency, Common Variable, 2
Hepatomegaly, Decreased circulating total IgM, Lymphadenopathy, Recurrent otitis media, Partial a... OMIM:240500
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, External genital hypoplasia, Elevated circulating hepatic transaminase concentrati... ORPHA:329178
Spermatogenic Failure 13
Male infertility, Azoospermia OMIM:615841
Lcat Deficiency
Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo... ORPHA:650
Harderoporphyria
Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge... OMIM:618892
Myotubular Myopathy With Abnormal Genital Development
Ambiguous genitalia, male, Atelectasis, Hypospadias, Respiratory distress, Glandular hypospadias,... OMIM:300219
Bacterial Toxic-Shock Syndrome
Skin rash, Sinusitis, Elevated circulating creatinine concentration, Myocarditis, Hypocalcemia, I... ORPHA:36234
Nephronophthisis 19
Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Hyperecho... OMIM:616217
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Hypophosphatemic ricke... OMIM:276700
Frasier Syndrome
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:136680
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Nephrotic syndrome, Mesangial hypercellularity, Enterocolitis, Focal segmental glomerulosclerosis OMIM:620425
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Diabetes insipidus, Azoospermia ORPHA:1445
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
48,Xxxy Syndrome
Chronic otitis media, Azoospermia, Hypoplasia of penis, Infertility, Decreased testicular size, O... ORPHA:96263
Postinfectious Vasculitis
Gastrointestinal inflammation, Pneumonia, Hematuria, Increased circulating antibody level, Elevat... ORPHA:48435
Primary Ciliary Dyskinesia
Chronic otitis media, Male infertility, Recurrent otitis media, Atelectasis, Pulmonary situs ambi... ORPHA:244
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hyperuricemia,... OMIM:232200
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Rheumatoid factor positive, Antinuclear ant... OMIM:618852
Brucellosis
Granuloma, Intrarenal abscess, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocardi... ORPHA:1304
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Elevated circulating creatinine concentration, Anemia, Decreased glomerular f... OMIM:174000
Preeclampsia
Abnormality of the kidney, Acute kidney injury, Abnormality of the hepatic vasculature, Thrombocy... ORPHA:275555
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c... OMIM:208540
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Megaloblastic anemia, Proteinuria OMIM:261100
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:160010
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Patent ductus arteriosus, Respiratory distress, Retinal detachment, Failure to thriv... OMIM:607143
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Recurrent otitis media, Rhinitis, Recurrent sinusitis... OMIM:614874
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s... OMIM:612925
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Papa Syndrome
Lymphadenopathy, Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Pust... ORPHA:69126
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... OMIM:251300
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis,... OMIM:209950
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Hepatic steatosis, Respiratory distress ORPHA:26792
Interstitial Lung Disease 2
Cirrhosis, Exertional dyspnea, Dyspnea, Elevated bronchoalveolar lavage fluid neutrophil proporti... OMIM:178500
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Central apnea, Respiratory distress, Pulmonary sequestration, Dyspnea, Ab... ORPHA:70589
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Elevated circulating long chai... ORPHA:228302
Mogs-Cdg
Optic atrophy, Pulmonary edema, Hypoventilation, External genital hypoplasia, Hepatomegaly, Respi... ORPHA:79330
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612924
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Azoospermia, Elevated hepatic iron concentration, Splenomegaly, Hypogonadism OMIM:615234
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Female infertility, Chronic rhinitis OMIM:617577
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia, An... ORPHA:277
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Inflammatory abnormality of the eye, Ar... ORPHA:36412
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Cryptorchidism, Abnormal anterior horn cell morphology, Resp... ORPHA:1145
Cryoglobulinemic Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Mediastinal lymphadenopathy, Arthritis, Viral hepatitis,... ORPHA:91138
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce... OMIM:613490
49,Xxxxy Syndrome
Chronic otitis media, Azoospermia, Hypoplasia of penis, Infertility, Decreased testicular size, T... ORPHA:96264
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent sinusitis, Recurrent pneumonia, Reduced sperm motility, Bronchi... OMIM:619436
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer... OMIM:619802
Perching Syndrome
Rod-cone dystrophy, Respiratory distress OMIM:617055
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abnormality of the kidney, Cirrhosis, Hepatomegaly, Portal fibrosis, Increased hepatic glycogen c... ORPHA:369
Primary Sjögren Syndrome
Abnormal pulmonary interstitial morphology, Vaginal dryness, Arteritis, Abnormality of the periph... ORPHA:289390
Familial Glucocorticoid Deficiency
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchidism, Precocio... ORPHA:361
Glycogen Storage Disease Xi
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Familial Mediterranean Fever, Autosomal Dominant
Erysipelas, Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency OMIM:134610
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Renal insufficiency, Increased mean platelet volume... ORPHA:182050
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urinary excretion of sialy... OMIM:256550
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... OMIM:300845
Majeed Syndrome
Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Acne, Leukocytosis, Synovitis, Micro... ORPHA:77297
Combined Oxidative Phosphorylation Deficiency 30
Decreased liver function, Respiratory distress, Elevated circulating alanine aminotransferase con... OMIM:616974
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Elevated circulating long chain fatty... OMIM:214100
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Leukocytosis, Lymphadenitis, Proteinuria, Cardiomegaly, Increased ci... OMIM:618886
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbi... OMIM:300908
Immunodeficiency, Common Variable, 1
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Decreased HDL cholesterol concentration, Hepatomegaly, Anemi... ORPHA:85450
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Skin rash, Eczematoid dermatitis, Rhe... ORPHA:79128
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,... OMIM:618913
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Activated Pi3K-Delta Syndrome
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ... ORPHA:397596
Alport Syndrome
Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi... ORPHA:63
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Hepatomegaly, Jaundice, Giant cell hepatitis, Renal tubular acidosis, ... OMIM:613404
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Stuve-Wiedemann Syndrome 2
Respiratory distress, Stillbirth, Neonatal death, Eczematoid dermatitis OMIM:619751
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... ORPHA:1772
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... OMIM:613011
Alport Syndrome 2, Autosomal Recessive
Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St... OMIM:203780
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Goodpasture Syndrome
Anti-glomerular basement membrane-antibody positivity, Anemia, Glomerular crescent formation, Cyl... OMIM:233450
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Jaundice, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Recurrent Respiratory Papillomatosis
Atelectasis, Respiratory distress, Dyspnea, Abnormal lung morphology, Failure to thrive, Recurren... ORPHA:60032
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmunity, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen,... OMIM:613845
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Bloom Syndrome
Azoospermia, Malar rash, Type II diabetes mellitus, Recurrent upper respiratory tract infections,... OMIM:210900
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Skin rash, Leukocytosis, Hepatosplenomega... OMIM:618963
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Respira... OMIM:613561
Ciliary Dyskinesia, Primary, 25
Recurrent otitis media, Infertility, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, ... OMIM:615482
H Syndrome
Delayed puberty, Recurrent pharyngitis, Azoospermia, Chronic rhinitis, Decreased testicular size,... ORPHA:168569
Alagille Syndrome 2
Cholestatic liver disease, Hematuria, Renal tubular acidosis, Cholestasis, Renal cyst, Renal hypo... OMIM:610205
Classic Galactosemia
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... ORPHA:79239
Moebius Syndrome
Respiratory distress, Facial diplegia, Decreased testicular size, Micropenis, Hypogonadotropic hy... OMIM:157900
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Cheilitis, Azoospermia, Bronchitis, Skin rash,... ORPHA:125
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Nephrotic syndrome, Splenomegaly, Proteinuria ORPHA:834
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Recurrent otitis media, Infertility, Rhinitis, Recurrent sinusitis, Red... OMIM:615500
Cryptococcosis
Pneumonia, Prostatitis, Cirrhosis, Respiratory distress, Abnormal cranial nerve morphology, Pleur... ORPHA:1546
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurren... OMIM:614935
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Erectile dysfunction, Arthritis, Infertility, Decreased libido, Testicul... ORPHA:465508
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Pontocerebellar atrophy, Hepatomegaly, Elevated circulating hepatic transaminase c... OMIM:608799
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Pulmonary lymphangiectasia, Chronic kidney disease, Membran... OMIM:137940
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Nephrotic syndrome, Bone marrow hypocellularity, Enterocoliti... OMIM:301108
Acute Radiation Syndrome
Interstitial pneumonitis, Inflammatory abnormality of the skin ORPHA:454831
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Clitoral hypertrophy, Respiratory distress, Dyspnea, Abnormal optic nerve morpholo... ORPHA:2707
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Decreased circulating antibody l... OMIM:613101
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Hypopho... OMIM:616026
Pierson Syndrome
Hypoproteinemia, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hyperechogenic kid... OMIM:609049
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis, Respiratory distress, Dyspnea, Tachypnea 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
Hyperkalemia, Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microgl... ORPHA:97362
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pancreatitis, Ly... OMIM:618935
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media, Asplenia OMIM:618948
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Anemia, Nephropathy, Proteinuria ORPHA:1192
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Respiratory distress, Pleural effusion, Dyspnea, Weight loss, Bronchiectasis ORPHA:411703
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Acute infectious pneumonia, Crazy paving pattern, Failure to thrive in infa... ORPHA:264675
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatos... OMIM:608836
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Proteinuria, Nephropathy ORPHA:220
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Respiratory distress OMIM:300580
Frasier Syndrome
Glomerulopathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Nephroblasto... ORPHA:347
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Abnormality of the liver, Hepatomegaly, Respiratory distress ORPHA:254864
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:268200
Legionnaires Disease
Myocarditis, Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hepatitis, Hyponatremia, Bone ma... ORPHA:549
Ciliary Dyskinesia, Primary, 13
Absent outer dynein arms, Recurrent otitis media, Recurrent bronchitis, Infertility, Recurrent si... OMIM:613193
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hemolytic-uremic syndrome, Reduced haptoglobin level, Anemia, Schistocytosis, Lymphopenia, Hypere... OMIM:301110
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Dy... ORPHA:60033
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ... OMIM:615605
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Glomerular sclerosis, Recurrent myoglobinuria, Pancytopenia, Elevated circulating creatin... OMIM:607426
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Fanconi Renotubular Syndrome 2
Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca... OMIM:613388
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Acute kidney injury, Pneumonia, Hematuria, Decreased glomerular filtration rate, Ac... ORPHA:340
Wolfram Syndrome 1
Optic atrophy, Cerebral atrophy, Diabetes insipidus, Hypothyroidism, Diabetes mellitus, Testicula... OMIM:222300
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-rea... OMIM:308240
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Respiratory distress, Bifid scrotum, Prominent scrotal raphe, Cryptorchidism, Abno... ORPHA:1555
Chronic Visceral Acid Sphingomyelinase Deficiency
Delayed puberty, Decreased liver function, Abnormal pulmonary interstitial morphology, Cirrhosis,... ORPHA:77293
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Azoospermia, Abnormality of the hypothal... ORPHA:300298
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Respiratory distress, Acute pancreatitis, Dyspnea, Pn... ORPHA:178320
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Normochromic anemia, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic s... OMIM:254900
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Infertility, Atelectasis OMIM:615872
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... OMIM:278850
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Infertility, ... OMIM:613808
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, ... ORPHA:85414
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Respiratory distress OMIM:614741
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Infertility, Chronic rhinitis, Recurrent sinusitis, Bronchiectasis OMIM:615481
Oligomeganephronia
Abnormal nephron morphology, Elevated circulating creatinine concentration, Decreased glomerular ... ORPHA:2260
Aicardi-Goutieres Syndrome 9
Ascites, Chilblains, Pericarditis, Left ventricular hypertrophy, Stage 5 chronic kidney disease, ... OMIM:619487
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... OMIM:123550
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b... ORPHA:731
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Weight loss, Respiratory distress OMIM:612075
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Respiratory distress ORPHA:91130
Coccidioidomycosis
Abnormality of the endocrine system, Skin rash, Pericarditis, Abnormal retinal morphology, Erythe... ORPHA:228123
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hyperphosph... OMIM:134600
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Respiratory distress, Microvesicular hepatic stea... OMIM:615595
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly, Aminoaciduria ORPHA:664
Malaria
Retinopathy, Respiratory distress ORPHA:673
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Failure to thrive, Facial palsy, Abnormal motor nerve conduction velocity OMIM:614399
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Systemic lupus e... ORPHA:90033
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Lymp... OMIM:615387
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Absent respiratory ciliary axoneme radial spokes, Infertility, Chronic rh... OMIM:616481
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Recurrent otitis med... OMIM:612783
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Respiratory distress, Failure to thrive, Splenomegaly ORPHA:79312
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Respiratory distress ORPHA:1832
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Abdominal situs inversus, Male infertility, Recurrent otitis media, Chronic sinusitis OMIM:619607
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Nephrotic syndrome, Decreased circulating IgG level, Increased circulati... ORPHA:505248
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr... ORPHA:449400
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-reactive pro... ORPHA:158061
Ring Chromosome 22 Syndrome
Pleural effusion, Azoospermia ORPHA:1446
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Hematuria, Jaundice, Cholelithiasis, Hyperuricemia, Elevated circ... OMIM:232800
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Skin rash, Increased total bilirubin, Systemic lupus erythematosus, ... ORPHA:90036
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Alport Syndrome 1, X-Linked
Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement membrane, Nephritis, Thr... OMIM:301050
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Panniculitis, Pancytopenia, Splenomegaly, Autoimm... OMIM:618398
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Abnormality of the upper urinary tract, Glycosuria, Reduced pancreatic bet... ORPHA:99885
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Hemolytic-uremic syndrome, Reticulocytosis, Microscopic hematuria, Increased blood urea... OMIM:274150
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Enlarged kidney, Hepatocellular adenoma, Tubulointerstitial fibrosis, Chron... ORPHA:79259
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Anemia, Recurrent otitis media, Bile duct proliferation, Microscopic hematuria, Pro... OMIM:619525
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Crohn's disease, Perinuclear a... OMIM:618394
Glycogen Storage Disease V
Elevated circulating creatine kinase concentration, Myoglobinuria, Dark urine, Hyperuricemia OMIM:232600
Distal 16P11.2 Microdeletion Syndrome
Abnormality of the kidney, Hyperuricemia, Vesicoureteral reflux, Renal agenesis, Proteinuria, Chr... ORPHA:261222
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Arthritis, Decreased... OMIM:616100
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp... ORPHA:439232
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormal T cell morphology, Hypouricemia, Decreased proportion of CD... ORPHA:760
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Failure to thrive in infancy, Recurrent pneumonia, Respiratory distress ORPHA:254875
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin ORPHA:90037
Bronchiolitis Obliterans
Pneumonia, Dyspnea, Respiratory tract infection, Bronchiectasis, Bronchiolitis obliterans ORPHA:1303
Succinic Acidemia
Respiratory distress OMIM:600335
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma,... ORPHA:39041
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Fanconi-Bickel Syndrome
Hepatomegaly, Intrahepatic cholestasis, Increased serum bile acid concentration, Generalized amin... OMIM:227810
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Ascites, Polysplenia, Hepatic fibrosis, Pancreatic fibrosis, Cysti... OMIM:200995
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Pleural effusion, Splenomegaly, Respiratory distress ORPHA:2414
Dent Disease 1
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... OMIM:300009
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Hemo... OMIM:301078
Glycogen Storage Disease Ic
Hepatomegaly, Hematuria, Decreased glomerular filtration rate, Chronic pancreatitis, Hyperuricemi... OMIM:232240
Paroxysmal Cold Hemoglobinuria
Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia, Abnormal urinary color, Hemoglobin... ORPHA:90035
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Hypospadias, Aspiration pneumonia, Apnea, Bronchiectasis, Small for gestational age OMIM:618253
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Elevated circulating hepatic transaminase concentration, Respiratory distress OMIM:615042
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin concentration, Renal ins... ORPHA:713
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Reticulocytosis, Erythroid hyperplasia, Renal insufficiency, Hemo... OMIM:300653
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Anti-smooth muscle antibody positivity, Anticardiolipin IgM... ORPHA:64743
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Hematuria, Juvenile rheumatoid arthrit... ORPHA:1855
Nail-Patella Syndrome
Hematuria, Nephrotic syndrome, Proteinuria, Renal insufficiency, Glomerulonephritis OMIM:161200
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Elevated circulating creatinine concentration, Multiple glomerular cys... OMIM:137920
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Respiratory distress, Microvesicular hepatic steatosis, Decreased carnitine level i... OMIM:212140
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Testicular atrophy OMIM:601163
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-... ORPHA:157
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral atrophy, Hypospadias, Respiratory distress, Cerebellar atrophy, Corpus callosum atrophy,... OMIM:619272
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Pleural effusi... OMIM:612387
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Absent outer dynein arms, Male infertility, Atelectasis, Recurrent bronchit... OMIM:244400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Decreased circulating total IgM, Abnormal natural kill... ORPHA:331206
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Bilateral renal atrophy OMIM:166300
Severe Acute Respiratory Syndrome
Acute infectious pneumonia, Dyspnea, Respiratory distress ORPHA:140896
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Respiratory distress, Stomatitis, Skin rash, Pustule, Splenomegaly, Pulmonary fibro... OMIM:612852
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections, Respiratory distress ORPHA:596
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... ORPHA:766
Folinic Acid-Responsive Seizures
Optic atrophy, Frontotemporal cerebral atrophy, Respiratory distress, Cerebellar atrophy, Apnea ORPHA:79097
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Hepatomegaly, Pancreatitis, Respiratory distress ORPHA:289916
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Hemoly... ORPHA:57
Tularemia
Pneumonia, Inflammatory abnormality of the eye, Respiratory distress, Skin rash, Pleural effusion... ORPHA:3392
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Hepatomegaly, Skin rash, Failure to thrive, Recurrent pneumonia, Pneumonia OMIM:300400
Papillorenal Syndrome
Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux... OMIM:120330
Leukocyte Adhesion Deficiency
Cerebral atrophy, Perianal abscess, Chronic oral candidiasis, Vaginitis, Severe periodontitis, Re... ORPHA:2968
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemoglobinuria, Hemolytic anemia, Reticulocytosis OMIM:266120
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn... OMIM:608022
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Small for gestational age, Respiratory distress OMIM:616733
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Hepatic steatosis, Myoglo... ORPHA:228308
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Infertility, Rhinitis, Recurrent sinusitis, Reduced sperm motility, Bronc... OMIM:615444
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated circulating hepatic transaminase concentration, Dyspnea, Portal hypertension, Abnormalit... ORPHA:210136
Type 1 Diabetes Mellitus
Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Autoimmunity OMIM:222100
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Respiratory distress, Acute infectious pneumonia, Pleural e... ORPHA:36238
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Elevated circulatin... ORPHA:368
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia OMIM:603585
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul... OMIM:242900
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:367
Melioidosis
Lung abscess, Prostatitis, Liver abscess, Acute infectious pneumonia, Foot osteomyelitis, Parotit... ORPHA:31202
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism, Pulmonary fibrosis OMIM:618165
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Azoospermia, Pancreatic hypo... OMIM:602782
Q Fever
Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circulating hepat... ORPHA:781
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Congenital hypothyroidism, Micropenis, Patent ductus arteriosus, Cryptorchi... ORPHA:2519
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Recurrent urinary trac... OMIM:613179
Microlissencephaly
Pneumonia ORPHA:1083
Cystinosis
Hypokalemia, Nephropathy, Portal hypertension, Proteinuria, Hypophosphatemia, Renal insufficiency... ORPHA:213
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Skin rash, Abnormal lymphocyt... ORPHA:100026
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Pulmonary hypoplasia, Respiratory distress OMIM:617895
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Glomerulopathy, Hematuria, Myositis, Arthritis, Skin rash, Increased inflammatory re... ORPHA:183
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Failure to thrive, Tachypnea, Hyperventilation ORPHA:91359
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Respiratory dist... ORPHA:26793
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
Avian Influenza
Pneumothorax, Elevated circulating hepatic transaminase concentration, Myelitis, Respiratory dist... ORPHA:454836
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Pneumonia, Hypotriglyceridemia, Increased circulating I... ORPHA:2298
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Bronchiectasis, Failure to thrive, Recurrent sinu... OMIM:615207
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Arthritis, Failure to thrive, Purulent rhini... OMIM:601457
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Periodontitis, Moderate albuminuria OMIM:619269
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Keratoconjunctivitis sicca, Non-caseating epithelioid cell gran... ORPHA:227990
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Pneumonia, External genital hypoplasia, Cryptorchidism ORPHA:1867
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Abnormal pulmonary interstitial morphology, Cholelithiasis, Azoospermia, Bacteri... ORPHA:2072
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Reduced haptoglobin level, Jaundice, Normochromic anemia, Decrea... OMIM:611881
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Paradoxical respiration, Recurrent acute respiratory tract infection, Respiratory distress OMIM:620011
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:276621
Felty Syndrome
Chronic otitis media, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, ... ORPHA:47612
Fanconi Anemia
Aganglionic megacolon, Hypospadias, Abnormal preputium morphology, Azoospermia, Patent ductus art... ORPHA:84
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastrointestinal inflammation, Anemia, Iron deficiency anemia, Abnormality of the urinary system,... ORPHA:79408
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen, Cerebellar atrophy, Abnormal retinal morphology ORPHA:89844
Cystic Fibrosis
Male infertility, Cirrhosis, Pancreatitis, Hepatomegaly, Biliary cirrhosis, Recurrent bronchopulm... OMIM:219700
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Tachypnea, Respiratory distress ORPHA:45452
Senior-Loken Syndrome 8
Nephronophthisis, Intrahepatic bile duct dilatation, Glomerular subepithelial immune-complex depo... OMIM:616307
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Unilateral renal dysplasia, Nephrotic syndrome, Thickened glomerular basement membrane... OMIM:146255
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hepatomegaly, Jaundice, Anemia, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatomegaly, Myoglobinuria, Red-brown urine, Elevated circulating creatine ki... ORPHA:228305
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Failure to thrive, Elevated circulating follicle stimu... OMIM:305400
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Clitoral hypertrophy, Abnormal vitreous humor morphology, Hypospadias, Retinal dyspla... ORPHA:2556
Von Hippel-Lindau Disease
Myocarditis, Neoplasm of the pancreas, Pancreatic endocrine tumor, Retinal detachment, Adrenal ph... ORPHA:892
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre... OMIM:248250
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Anemia, Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, Diffuse hepatic ... ORPHA:436271
Holocarboxylase Synthetase Deficiency
Perioral eczema, Respiratory distress, Keratoconjunctivitis, Eczematoid dermatitis, Weight loss, ... ORPHA:79242
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Abnormal cranial nerve morphology, Respiratory distress, Hypoplasia of penis ORPHA:990
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Glomerular sclerosis, Skin rash, Abnormality of the hepat... ORPHA:247691
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Superficial dermal perivascular inflammatory... ORPHA:284426
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciur... OMIM:300554
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Decreased circulating carnit... OMIM:201475
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... ORPHA:331235
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Nephropathy, Microscopic hematuria, Thickened glomerular basement membrane, Abnormal r... OMIM:308940
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Dyspnea, Failure to thrive, Neonatal death, Interlobular... OMIM:265120
Cocaine Intoxication
Acute kidney injury, Hematuria, Colitis, Elevated circulating creatine kinase concentration, Prot... ORPHA:90068
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia, Pyelonephritis, Nephritis OMIM:314300
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections OMIM:618806
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Asc... ORPHA:457077
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Testicular atrophy OMIM:613987
Immunodeficiency 32B
Hepatomegaly, Bronchiectasis, Sinusitis, Failure to thrive, Splenomegaly, Pneumonia, Recurrent re... OMIM:226990
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Tachypnea, Hepatomegaly, Respiratory distress OMIM:614299
Farber Disease
Atelectasis, Elevated circulating hepatic transaminase concentration, Respiratory distress, Macul... ORPHA:333
Nipah Virus Disease
Recurrent pharyngitis, Infectious encephalitis, Respiratory distress ORPHA:99825
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Nasal flaring, Respiratory tract infection, Pneumonia, Tachypnea ORPHA:70587
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color, Elevated circulating creatine kinase concentration ORPHA:98895
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Caspase 8 Deficiency
Eczematoid dermatitis, Failure to thrive, Splenomegaly, Recurrent sinopulmonary infections, Pneum... OMIM:607271
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Recurrent otitis media, Respiratory distress, Neonatal death, Uterine leiomyoma, Central apnea, I... OMIM:616482
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Hepatomegaly, Respiratory distress ORPHA:927
Anaplastic Thyroid Carcinoma
Dyspnea, Neoplasm of the lung, Weight loss, Respiratory distress ORPHA:142
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Keratoconjunctivitis sicca, Non-caseating epithelioid cell gran... ORPHA:227982
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc... ORPHA:99845
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Laryngotracheal Angioma
Apnea, Intercostal retractions, Respiratory distress ORPHA:137935
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Hypophosphatemic rickets, Generalized aminoacid... ORPHA:3337
Juvenile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Elevated circulating creatinine concentration, Renal phosphate ... ORPHA:411634
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Facial diplegia, Facial palsy, Small scrotum, Recurrent respiratory infections, Crypto... ORPHA:98905
Sjogren Syndrome
Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Laryngomalacia
Respiratory distress OMIM:150280
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Hypophosphatemic rickets, Increased hepatic glycogen content, Glycosuria, Proteinur... ORPHA:263455
Slc35A1-Cdg
Pneumonia, Pulmonary hemorrhage, Respiratory distress ORPHA:238459
Auriculocondylar Syndrome 2A
Apnea, Respiratory distress OMIM:614669
Isolated Agammaglobulinemia
Pneumonia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Sinusitis, Failure to thriv... ORPHA:229717
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Hepatomegaly, Neutropenia, Myoglobinuria, Elevated circulating creat... OMIM:251900
Mirage Syndrome
Hypospadias, Adrenal hypoplasia, Decreased body weight, Aspiration pneumonia, Microphallus, Decre... OMIM:617053
Beare-Stevenson Cutis Gyrata Syndrome
Optic atrophy, Hypospadias, Respiratory distress, Bifid scrotum, Prominent scrotal raphe, Hypopla... OMIM:123790
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Failure to thrive, Jaundice, Respiratory distress OMIM:250940
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Respiratory distress, Hepatic periportal necrosis, Neonatal death, Pulmon... OMIM:231680
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Optic atrophy, Recurrent respiratory infections, Hepatomegaly, Respiratory distress OMIM:619383
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Anemia, Increased hepatocellular lipid droplets, Glycosuria, Hyperphosphaturia, Pro... OMIM:220110
Cryptogenic Organizing Pneumonia
Pneumothorax, Dyspnea, Weight loss, Respiratory distress ORPHA:1302
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Pannicul... ORPHA:79086
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Hepatomegaly, Panhypogammaglobulinemia, B lymphocytopenia, Increased circulating IgE l... OMIM:602450
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Facial palsy, Hypergonadotropic hypogonadi... OMIM:157640
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Hypokalem... ORPHA:18
Pulmonary Alveolar Microlithiasis
Pneumothorax, Pleural thickening, Hepatomegaly, Exertional dyspnea, Testicular microlithiasis, Br... ORPHA:60025
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Respiratory distress, Elevated bronchoalveolar lavage fluid lymphocyte proportion, C... OMIM:610978
Chitayat Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Respiratory distress OMIM:617180
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Pleural effusion, Dyspnea, Bronchiectasis, Sinusitis, Ke... ORPHA:1163
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Acute kidney injury, Renal tubular epithelial necrosis, Hematuria,... ORPHA:95455
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Pulmonary capillary hemangiomatosis, Neoplasm of the pancreas, Pheochromocyto... OMIM:193300
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria, Highly elevated creatine kinase ORPHA:352479
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Respiratory distress, Microv... OMIM:256810
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Abnormal pulmonary interstitial m... ORPHA:209905
Hereditary Orotic Aciduria
Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa... ORPHA:30
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... OMIM:110100
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol... OMIM:130650
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Respiratory distress, Dysp... ORPHA:348
Sickle Cell Disease
Hepatomegaly, Hematuria, Jaundice, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells... OMIM:603903
Malakoplakia
Hematuria, Skin rash, Dysuria, Urinary hesitancy, Urinary urgency, Inflammatory abnormality of th... ORPHA:556
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Failure to thrive, Respiratory distress ORPHA:261304
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Cryptorchidism, Hypospadias, Patent ductus arteriosus OMIM:217980
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Arthritis, Skin rash, Ascites, Leukocytosis, Nephrotic syndrome, P... ORPHA:342
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst OMIM:618188
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Anti-smooth muscle antibody positivity, Cholangitis, Pancytopenia, Neutropenia in pres... ORPHA:228426
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Elevated circulating alanine aminotransferase concentration, Elevated circu... OMIM:620375
Nocardiosis
Pneumothorax, Scleritis, Liver abscess, Emphysema, Pleuritis, Respiratory distress, Thyroiditis, ... ORPHA:31204
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Cystic Fibrosis
Pneumothorax, Absent vas deferens, Male infertility, Cirrhosis, Elevated circulating hepatic tran... ORPHA:586
Wilson Disease
Portal fibrosis, Ascites, Splenomegaly, High nonceruloplasmin-bound serum copper, Hepatic steatos... OMIM:277900
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:29072
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... ORPHA:275
Triosephosphate Isomerase Deficiency
Cerebral atrophy, Jaundice, Cholelithiasis, Respiratory distress, Prolonged neonatal jaundice, Fa... OMIM:615512
Cystinosis, Nephropathic
Generalized aminoaciduria, Splenomegaly, Hypophosphatemia, Stage 5 chronic kidney disease, Reduce... OMIM:219800
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Pancreatitis, Respiratory distress, Failure to thrive, Tubulointerstitial nephritis OMIM:251000
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney, Seborrheic dermatitis ORPHA:276280
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia, Respiratory distress ORPHA:70588
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Hepatomegaly, Portal fibrosis, Cirrhosis, Anemia, R... ORPHA:264580
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Respiratory distress, Decreased body weight, Neonatal death, Pulmonary hypoplasia, ... OMIM:608013
Paroxysmal Nocturnal Hemoglobinuria
Abnormal erythrocyte enzyme concentration or activity, Unconjugated hyperbilirubinemia, Reticuloc... ORPHA:447
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling, Respiratory distress OMIM:617102
Osteootohepatoenteric Syndrome
Portal fibrosis, Increased serum bile acid concentration, Hypokalemia, Anemia, Microvesicular hep... OMIM:619377
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Unconjugated hyperbilirubinemia, Reticulocytosis, Circulating nu... OMIM:613673
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Acute kidney injury, Hepatomegaly, Hemolytic-uremic syndrome, Hematuria, Methylmalonic acidemia, ... OMIM:277400
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Panniculitis, Emphysema, Hepatomegaly, Bronchitis, Hepatocellular carcinoma,... ORPHA:60
Interstitial Cystitis
Elevated circulating C-reactive protein concentration, Abnormality of the bladder, Pollakisuria, ... ORPHA:37202
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Hepatomegaly, Cirrhosis, Anemia, Renal tubular acid... ORPHA:79240
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Proteinuria, Nephropathy OMIM:209010
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Chronic... ORPHA:534
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Ch... ORPHA:183675
Combined Immunodeficiency, X-Linked
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media OMIM:312863
Arima Syndrome
Polyuria, Cirrhosis, Nephronophthisis, Hematuria, Hepatomegaly, Anemia, Tubulointerstitial fibros... OMIM:243910
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Renal duplication, Proteinuria, Conjunctiviti... ORPHA:33001
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Cerebral atrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypospad... ORPHA:17
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Respir... ORPHA:226313
Sclerosing Cholangitis, Neonatal
Cirrhosis, Hepatomegaly, Portal fibrosis, Jaundice, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Proteinuria, Nephropathy ORPHA:1765
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia OMIM:615399
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebral atrophy, Pneumothorax, Respiratory distress, Glandular hypospadias, Cerebellar atrophy, ... OMIM:620306
Renal Agenesis
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age... ORPHA:411709
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Hepatic steatosis, Dicarboxylic aciduria, Hepatic necrosis OMIM:231530
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Recurrent respiratory infections, Dyspnea, Respiratory distress ORPHA:2759
Hypoglossia With Situs Inversus
Respiratory distress, Polysplenia, Asplenia OMIM:612776
Interstitial Lung And Liver Disease
Abnormal pulmonary interstitial morphology, Cirrhosis, Hepatomegaly, Intraalveolar phospholipid a... OMIM:615486
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypomagnesiuria, Hypocalciuria, Reduced rat... ORPHA:405
Ddost-Cdg
Nephrotic range proteinuria, Hepatic steatosis ORPHA:300536
Granulomatosis With Polyangiitis
Chronic otitis media, Glomerulopathy, Prostatitis, Hematuria, Pancreatitis, Elevated circulating ... ORPHA:900
Alström Syndrome
Elevated circulating hepatic transaminase concentration, Precocious puberty in females, Primary h... ORPHA:64
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Recurrent otitis media, Increased serum beta-hexosaminidase, Mucop... OMIM:252500
Microsporidiosis
Adrenocortical abnormality, Bronchitis, Cachexia, Sinusitis, Biliary tract abnormality, Myocardit... ORPHA:2552
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Decreased response to growth hormone stimulation test, Prostatitis, Pyoderma, Pn... OMIM:307200
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Nephrotic syndrome, Proteinuria, Nephropathy ORPHA:330001
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Colonic eosinophilia, Bronchiectasis, Ulcerative colitis OMIM:617638
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections ORPHA:3347
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Recurrent lower respiratory tract infections, Crohn's disease, Optic neuritis, Thyr... ORPHA:436159
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Abnormal peritoneum morphology, Dyspnea, Abnormal pleura morpholo... ORPHA:2357
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Chops Syndrome
Optic atrophy, Aspiration pneumonia, Anomalous pulmonary venous return, Obesity, Splenomegaly, Pa... OMIM:616368
Fabry Disease
Urinary mulberry cells, Anemia, Proteinuria, Lipiduria, Left ventricular hypertrophy, Renal insuf... OMIM:301500
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress ORPHA:86812
Tracheobronchopathia Osteochondroplastica
Exertional dyspnea, Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurre... ORPHA:3348
Congenital Enterovirus Infection
Myocarditis, Respiratory distress, Skin rash, Pleural effusion, Cholestasis, Hepatitis, Infectiou... ORPHA:292
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration OMIM:300559
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Thrombocytosis, Proximal tubulopathy, Hepatic fibrosis, Renal cyst, Nephrotic syndr... OMIM:212065
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Microscopic hematuria, Elliptocytosis, Proteinuria, Renal insufficiency ORPHA:86818
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Bilateral renal agenesis, Proteinuria OMIM:191830
Toxic Epidermal Necrolysis
Pancreatitis, Elevated circulating hepatic transaminase concentration, Abnormal vagina morphology... ORPHA:537
Ear-Patella-Short Stature Syndrome
Epispadias, Clitoral hypertrophy, Hypospadias, Hypoplasia of penis, Breast aplasia, Respiratory d... ORPHA:2554
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Elevated urinary norepinephrine level, Proteinuria OMIM:171420
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Pancreatic cysts, Renal cyst, Polycystic liver disease, Bile duct proliferation, Nephri... OMIM:208500
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Congenital megaureter, Abnorma... ORPHA:116
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Respiratory distress OMIM:618201
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Respiratory distress, Aspiration pneumonia, Apnea, Recurrent pneumonia ORPHA:314655
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Failure to thrive secondary to recurrent infections, Erythroderma, Recu... ORPHA:169160
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Anemia, Hypochromic microcytic anemia, Increased serum pyruvate, Hyperalaninemia, Mild proteinuri... OMIM:619147
Meier-Gorlin Syndrome 1
Breast hypoplasia, Clitoral hypertrophy, Emphysema, Respiratory distress, Hypoplastic labia minor... OMIM:224690
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, External genital hypoplasia, Respiratory d... ORPHA:177907
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Irregular respiration, Hepatomegaly, Respiratory distress OMIM:604377
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress ORPHA:1143
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Hepatomegaly, Jaundice, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia OMIM:612300
Mitochondrial Trifunctional Protein Deficiency 2
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Myoglobinuria, Elevated c... OMIM:620300
Myopathy With Lactic Acidosis, Hereditary
Anemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Sideroblastic anemia, ... OMIM:255125
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Cholelithiasis, Respiratory distress, Seborrheic dermatitis, Brain atrophy, Pancrea... ORPHA:83617
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Proteinuria ORPHA:1307
Pearson Syndrome
Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Hypophosphatemia, Pancreatic fibrosis... ORPHA:699
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Increased circulating an... ORPHA:91500
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Jaundice, Moderate albuminuria OMIM:614231
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Pancreatitis, Hypokalemia, Acute colitis, Anuria, Leukocytosis, Unconjugated... ORPHA:90038
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice ORPHA:464370
Esophageal Atresia
Maternal diabetes, Respiratory distress, Bronchitis, Abnormal external genitalia, Esophagitis, Pu... ORPHA:1199
Thyroid Lymphoma
Hashimoto thyroiditis, Dyspnea, Respiratory distress ORPHA:97285
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:602522
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Tu... ORPHA:488627
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... ORPHA:572333
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Mild proteinuria, Intrahepatic cholestasis, Increased serum bile acid concent... OMIM:619685
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Failure to thrive, Respiratory distress ORPHA:544503
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur... ORPHA:94093
Common Variable Immunodeficiency
Chronic otitis media, Emphysema, Elevated circulating hepatic transaminase concentration, Recurre... ORPHA:1572
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Immunodeficiency 22
Chronic oral candidiasis, Decreased circulating total IgM, Anemia, Decreased circulating IgE, Pan... OMIM:615758
Ciliary Dyskinesia, Primary, 42
Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Kniest Dysplasia
Retinal detachment, Recurrent otitis media, Respiratory distress OMIM:156550
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Decreased circulating carnitine concentration, Myoglobinuria, Abnormal cir... ORPHA:71212
Osteoglophonic Dysplasia
Hypospadias, Respiratory distress, Failure to thrive, Chordee, Cryptorchidism OMIM:166250
Bronchial Neuroendocrine Tumor
Abnormal pulmonary interstitial morphology, Hepatomegaly, Dyspnea, Weight loss, Pneumonia, Hepati... ORPHA:97287
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypokalemia, Hyper... ORPHA:47159
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Meacham Syndrome
Enlarged kidney, Horseshoe kidney, Accessory spleen OMIM:608978
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:99228
Monosomy X
Delayed puberty, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:99226
Turner Syndrome
Delayed puberty, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:881
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Tachypnea, Respiratory distress OMIM:237310
Ramos-Arroyo Syndrome
Aganglionic megacolon, Severe failure to thrive, Respiratory distress, Absent retinal pigment epi... ORPHA:1051
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Recurrent otitis media, Thyroiditis, Colitis, Arthritis, Bronchiectasis, Inflammation ... OMIM:614700
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory distress OMIM:184260
Gaucher Disease Type 3
Hepatomegaly, Hematuria, Increased circulating antibody level, Anemia, Pancytopenia, Thrombocytop... ORPHA:77261
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Respiratory distres... OMIM:617156
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus OMIM:612651
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Respiratory distress, Elevated circulating alanine aminotransferase concentration, ... ORPHA:308552
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis 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
Enlarged kidney, Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Renal agenesis, Cardiomega... OMIM:306955
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria, Cholestasis, Elevated circulating creatine kinase concentration, Hyperammonemia, E... OMIM:609015
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Anti-smooth muscle antibody positivity, Hematuria, Aspiration pneumonia, Keratitis, Proteinuria, ... ORPHA:1018
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent bacterial skin infections, Atopic dermatitis, Recurrent sinusitis... ORPHA:217390
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Recurrent respiratory infections, Respiratory distress, Facial palsy, ... OMIM:211530
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hypokalemia, Glycosuria, Hyperphosphaturia, Renal Fanconi syndr... ORPHA:411629
Scedosporiosis
Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Pericarditis, Arthralgia/arthritis, Septic art... ORPHA:449280
Relapsing Polychondritis
Myocarditis, Glomerulopathy, Hematuria, Recurrent aphthous stomatitis, Inflammatory abnormality o... ORPHA:728
Fusariosis
Lung abscess, Hypersensitivity pneumonitis, Panniculitis, Maculopapular exanthema, Myositis, Arth... ORPHA:228119
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Hepatomegaly, Dyspnea, Respiratory distress OMIM:115197
Leprechaunism
Enlarged kidney, Hepatomegaly, Hypokalemia, Long penis, Hypercalciuria, Increased circulating ren... ORPHA:508
Renal Nutcracker Syndrome
Hematuria, Anemia, Renal artery stenosis, Microscopic hematuria, Proteinuria ORPHA:71273
Gitelman Syndrome
Hypermagnesemia, Urinary incontinence, Neoplasm of the pancreas, Iron deficiency anemia, Hypokale... ORPHA:358
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Chronic neutropenia, Transient neutropenia, Bifid ureter, Nephroblastoma, Renal ... ORPHA:500095
Adnp Syndrome
Cerebral atrophy, Respiratory distress, Recurrent upper respiratory tract infections, Cryptorchid... ORPHA:404448
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Cholangitis, Elevated circulating hepatic transaminase concentration, Portal fibros... ORPHA:3260
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Abnormal renal artery morphology, Ureteral hy... ORPHA:79328
Tetrasomy 5P
Failure to thrive, Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory distress ORPHA:3309
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Microphallus, Failure to thrive, Patent du... OMIM:603467
Graft Versus Host Disease
Gastrointestinal inflammation, Jaundice, Elevated circulating hepatic transaminase concentration,... ORPHA:39812
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Macular coloboma, Cerebral atrophy, Jaundice, Respiratory distress, Stomatitis, Ab... ORPHA:79282
Listeriosis
Myocarditis, Jaundice, Liver abscess, Pyelonephritis, Arteritis, Respiratory distress, Splenic ab... ORPHA:533
Shwachman-Diamond Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Respiratory distress, Fail... OMIM:260400
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Intraalveolar phospholipid accumulation, Dyspnea, Pneumonia, Recurrent respiratory ... OMIM:610910
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Aplasia of the bladder, Elevated circulating creatine kinase concentration,... ORPHA:158684
Pheochromocytoma
Elevated urinary norepinephrine level, Hypercalcemia, Renal artery stenosis, Proteinuria OMIM:171300
Sepsis In Premature Infants
Decreased liver function, Jaundice, Hepatomegaly, Decreased body weight, Dyspnea, Nasal flaring, ... ORPHA:90051
Arboleda-Tham Syndrome
Optic atrophy, Chronic otitis media, Recurrent otitis media, Patent ductus arteriosus, Respirator... OMIM:616268
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Ascites, Biliary cirrhosis, Splenomegaly, Abnormal intr... ORPHA:186
Agel Amyloidosis
Stage 5 chronic kidney disease, Abnormal spleen morphology, Proteinuria, Keratoconjunctivitis sicca ORPHA:85448
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Small for gestational age, Hypergonadotropic hypogonadism OMIM:227650
Hellp Syndrome
Acute kidney injury, Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Prote... ORPHA:244242
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Respiratory distress ORPHA:98805
Generalized Glucocorticoid Resistance Syndrome
Acne, Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased ur... ORPHA:786
Kawasaki Disease
Myocarditis, Cervical lymphadenopathy, Jaundice, Cheilitis, Elevated circulating C-reactive prote... ORPHA:2331
Choanal Atresia
Recurrent respiratory infections, Chronic sinusitis, Respiratory distress ORPHA:137914
Ogden Syndrome
Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Recurrent ot... OMIM:300855
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Hyperventilation, Hepatomegaly, Dyspnea, Failure to thrive, Apnea, Episodic respir... ORPHA:255210
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Hepatomegaly, Respiratory distress OMIM:251110
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Pancreatitis, Dyspnea ORPHA:70578
Igg4-Related Submandibular Gland Disease
Abnormality of the kidney, Prostatitis, Increased circulating antibody level, Abnormal pancreas m... ORPHA:449432
Immunoglobulin A Vasculitis
Glomerulopathy, Hematuria, Arthritis, Skin rash, Episcleritis, Pustule, Proteinuria, Orchitis, Re... ORPHA:761
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic oral candidiasis, Stomatitis, Skin rash, Chronic mucocutaneous candidiasis, Recurrent bac... ORPHA:911
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Pulmonary hypoplasia, Respiratory distress OMIM:151210
Oromandibular Dystonia
Weight loss, Respiratory distress ORPHA:93958
Biotinidase Deficiency
Optic atrophy, Respiratory distress, Skin rash, Optic neuropathy, Eczematoid dermatitis, Apnea, C... ORPHA:79241
Lesch-Nyhan Syndrome
Podagra, Testicular atrophy OMIM:300322
Schinzel-Giedion Syndrome
Annular pancreas, Aganglionic megacolon, Hypospadias, Respiratory distress, Central hypothyroidis... ORPHA:798
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Respiratory distress, Decreased amplitude of sensory action ... OMIM:618733
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress ORPHA:100057
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Hepatic steatosis, Respiratory distress OMIM:616271
Acquired Methemoglobinemia
Dyspnea, Respiratory distress ORPHA:464453
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Hepatomegaly, Respiratory distress OMIM:251100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Jaundice, Hepatomegaly, Skin rash, Chronic mucocutaneous candidiasis, R... ORPHA:276
Xfe Progeroid Syndrome
Hypoalbuminemia, Ascites, Renal insufficiency, Proteinuria OMIM:610965
Martin-Probst Syndrome
Pancytopenia, Renal insufficiency, Chordee, Proteinuria, Micropenis OMIM:300519
Agnathia-Otocephaly Complex
Pulmonary hypoplasia, Respiratory distress OMIM:202650
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney, Ascites OMIM:261740
Galloway-Mowat Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:2065
Congenital Tracheomalacia
Pneumothorax, Emphysema, Intercostal retractions, Dyspnea, Bronchiectasis, Failure to thrive, Apn... ORPHA:95430
Gaucher Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Hematuria, Increased circulating antibody ... ORPHA:355
Microlissencephaly-Micromelia Syndrome
Abnormal circulating calcium-phosphate regulating hormone concentration, Failure to thrive, Hypop... ORPHA:50810
Cockayne Syndrome Type 1
Hepatomegaly, Anemia, Increased blood urea nitrogen, Proteinuria, Conjunctivitis, Renal insuffici... ORPHA:90321
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Tetanus
Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Respirato... 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
Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren... OMIM:614748
Crimean-Congo Hemorrhagic Fever
Ascites, Leukopenia, Splenomegaly, Erythema nodosum, Cholecystitis, Morbilliform rash, Myocarditi... ORPHA:99827
Rubinstein-Taybi Syndrome 1
Hepatic hemangioma, Hypospadias, Patent ductus arteriosus, Accessory spleen, Respiratory distress... OMIM:180849
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Bronchiectasis, Sinusitis, Failure to thrive, Pneumonia, Chronic bronchitis OMIM:242860
Pachyonychia Congenita
Failure to thrive, Angular cheilitis, Respiratory distress ORPHA:2309
Mgat2-Cdg
Abnormality of the endocrine system, Respiratory distress, Brain atrophy, Hypoplastic nipples, Fa... ORPHA:79329
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Proteinuria, Recurrent otitis media ORPHA:2728
Spondyloepiphyseal Dysplasia Congenita
Retinal detachment, Vitreoretinopathy, Respiratory distress OMIM:183900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration OMIM:607155
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Cornelia De Lange Syndrome 1
Pneumonia, Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Duplica... OMIM:122470
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Increased body weight, Pituitary growth hormo... ORPHA:1359
Alfadhel Syndrome
Nasal flaring OMIM:620655
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress OMIM:620166
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Nasolacrimal Duct Cyst
Episodic respiratory distress, Paroxysmal dyspnea, Chronic irritative conjunctivitis, Intercostal... ORPHA:141083
Complete Atrioventricular Septal Defect
Hepatomegaly, Intercostal retractions, Failure to thrive, Recurrent pneumonia, Tachypnea ORPHA:1329
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Aganglionic megacolon, Respiratory distress, Asplenia, Patent ductus arteriosus... ORPHA:210122
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Patent urachus, Hepatopulmonary fusio... OMIM:618280
Nail-Patella Syndrome
Abnormality of the kidney, Hematuria, Arthritis, Nephrotic syndrome, Thickened glomerular basemen... ORPHA:2614
Lujo Hemorrhagic Fever
Myocarditis, Atelectasis, Elevated circulating hepatic transaminase concentration, Respiratory di... ORPHA:319213
Synaptic Congenital Myasthenic Syndromes
Hypoventilation, Exertional dyspnea, Recurrent lower respiratory tract infections, Respiratory di... ORPHA:98915
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Tuberous Sclerosis Complex
Retinal hamartoma, Pancreatic endocrine tumor, Respiratory distress, Pheochromocytoma, Chorioreti... ORPHA:805
Fabry Disease
Abnormal renal tubule morphology, Abnormal circulating lipid concentration, Glomerulopathy, Hemat... ORPHA:324
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Acute kidney injury, Myocarditis, Pneumonia, Pancreatitis, Hypocalcemia, Acute coli... ORPHA:544482
Alpha-Mannosidosis, Adult Form
Subcortical cerebral atrophy, Cerebellar atrophy, Cerebral cortical atrophy, Hepatosplenomegaly, ... ORPHA:309288
Japanese Encephalitis
Pulmonary edema, Respiratory distress, Facial palsy, Inappropriate antidiuretic hormone secretion... ORPHA:79139
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Esophagitis, Pneumonia, Osteomyelitis OMIM:619652
Steinert Myotonic Dystrophy
Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to growth hormone stimula... ORPHA:273
Melas
Anemia, Proximal tubulopathy, Focal segmental glomerulosclerosis, Proteinuria, Recurrent pancreat... ORPHA:550
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Atelectasis, Exertional dyspnea, Respiratory distress, Elevated circulating alanine... ORPHA:365
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells, Respiratory distress OMIM:271225
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormality of thyroid physiology, Respiratory distress, Unilateral breast hypoplasia, Patent duc... OMIM:300968
Bardet-Biedl Syndrome 20
Pancreatitis, Hypercholesterolemia, Micropenis, Proteinuria OMIM:619471
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Chronic bronchitis, Recurrent upper respiratory tract infections OMIM:614069
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Hyperp... ORPHA:423
Craniofaciofrontodigital Syndrome
Large for gestational age, Dyspnea, Respiratory distress ORPHA:363705
Leptospirosis
Jaundice, Hepatomegaly, Respiratory distress, Optic neuritis, Skin rash, Chorioretinitis, Pleural... ORPHA:509
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver parenchyma morphol... ORPHA:79318
Whim Syndrome
Severe periodontitis, Atelectasis, Parotitis, Lymphadenitis, Bronchiectasis, Sinusitis, Recurrent... ORPHA:51636
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Scimitar Syndrome
Pneumothorax, Bronchogenic cyst, Respiratory distress, Pulmonary sequestration, Pulmonary artery ... ORPHA:185
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Recurrent lower respiratory tract infections, Respiratory distress, Failure to thrive, Apnea, Hyp... OMIM:618426
Congenital Disorder Of Deglycosylation 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Respiratory distress, Decr... OMIM:615273
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Congenital Myopathy 22B, Severe Fetal
Pulmonary hypoplasia, Hepatomegaly, Pleural effusion, Respiratory distress OMIM:620369
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys... OMIM:223900
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney OMIM:615873
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells ORPHA:3063
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Lymphadenopathy, Myositis, Thyroiditis, Increased circulating IgA lev... ORPHA:79078
Lymphatic Malformation 7
Chylothorax, Pulmonary edema, Pleural effusion, Respiratory distress OMIM:617300
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Hepatomegaly, Respiratory distress, Splenomegaly, Vaginal atresia, Patent ductu... OMIM:617088
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperammonemia, Elevated circu... OMIM:616878
Omenn Syndrome
Hepatomegaly, Erythroderma, Failure to thrive, Splenomegaly, Pneumonia OMIM:603554
Ulbright-Hodes Syndrome
Pneumothorax, Clitoral hypertrophy, Enlarged labia minora, Maternal diabetes, Respiratory distres... ORPHA:3404
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:206549
Campomelic Dysplasia
Recurrent lower respiratory tract infections, Hypospadias, Respiratory distress, Failure to thriv... OMIM:114290
Doors Syndrome
Optic atrophy, Respiratory distress, Aspiration pneumonia, Congenital hypothyroidism, Adrenal hyp... ORPHA:79500
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Hepatomegaly, Macrovesicular hepatic steatosis, Focal segmental glomerulosc... OMIM:619127
Wagro Syndrome
Nephroblastoma, Proteinuria OMIM:612469
Radio-Renal Syndrome
Chylothorax, Pleural effusion, Dyspnea, Respiratory distress ORPHA:3015
Congenital Myasthenic Syndrome
Sudden episodic apnea, Frontalis muscle weakness, Apneic episodes precipitated by illness, fatigu... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Sudden episodic apnea, Frontalis muscle weakness, Apneic episodes precipitated by illness, fatigu... ORPHA:98914
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Thyroiditis, Eczematoid dermatitis, Sinusitis, Fa... ORPHA:83471
Neuroblastoma
Elevated circulating catecholamine level, Weight loss, Horner syndrome, Respiratory distress ORPHA:635
Roifman-Chitayat Syndrome
Optic atrophy, Arthritis, Pneumonia OMIM:613328
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Respiratory distress, Repeated pneumothoraces, Pulmonary hypoplasia, Peripapillary a... ORPHA:536467
Autosomal Dominant Severe Congenital Neutropenia
Recurrent aphthous stomatitis, Periodontitis, Rhinitis, Recurrent sinopulmonary infections, Pneum... ORPHA:486
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr... OMIM:312870
Shigellosis
Myocarditis, Acute colitis, Arthritis, Splenic abscess, Cholestasis, Hepatic failure, Peritonitis... ORPHA:810
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Biliary hyperplasia, Splenomegaly, Hepat... OMIM:619991
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Bronchitis, Arthritis, Recurrent sinusitis, Recurrent... ORPHA:420741
Congenital Syphilis
Optic atrophy, Myocarditis, Pancreatitis, Chorioretinitis, Synovitis, Prolonged neonatal jaundice... ORPHA:499009
Cockayne Syndrome
Urinary incontinence, Hepatomegaly, Unilateral renal agenesis, Hyperuricemia, Malar rash, Neuroge... ORPHA:191
Floating-Harbor Syndrome
Recurrent otitis media, Hypospadias, Glandular hypospadias, Atopic dermatitis, Varicocele, Epidid... OMIM:136140
Plague
Carbuncle, Hepatomegaly, Inflammatory abnormality of the eye, Acute infectious pneumonia, Arthrit... ORPHA:707
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Retinopathy, Failure to thrive, Obesity, Otitis media, Patent ductus arteriosus, Pne... ORPHA:353281
8Q24.3 Microdeletion Syndrome
Abnormal lung lobation, Global brain atrophy, Respiratory distress, Optic nerve hypoplasia, Retin... ORPHA:508488
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Biliary atresia, Respi... ORPHA:2255
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Pneumonia, Hepatomegaly, Splenomegaly ORPHA:169090
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Patent ductus arteriosus OMIM:612863
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Proteus Syndrome
Enlarged kidney, Long penis, Enlarged polycystic ovaries, Renal cyst, Neoplasm of the thymus, Lym... ORPHA:744
Osteogenesis Imperfecta, Type X
Recurrent pneumonia, Respiratory distress OMIM:613848
Achondroplasia
Recurrent otitis media, Pulmonary hypoplasia, Respiratory distress OMIM:100800
Arterial Tortuosity Syndrome
Myocarditis, Respiratory distress, Dyspnea, Esophagitis, Pulmonary artery stenosis ORPHA:3342
Orofaciodigital Syndrome Type 1
Chronic otitis media, Renal insufficiency, Pancreatic cysts, Hydronephrosis, Exocrine pancreatic ... ORPHA:2750
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Thymic hormone decreased, Splenomegaly, Proteinuria, Micropenis OMIM:216400
Alternating Hemiplegia Of Childhood
Failure to thrive, Apnea, Abnormal autonomic nervous system physiology, Respiratory distress ORPHA:2131
Geleophysic Dysplasia 3
Pneumonia, Hepatomegaly, Dyspnea OMIM:617809
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Varicocele, Epididymal cyst, Cryptorchidism, Small for gestation... ORPHA:2044
Degcags Syndrome
Hepatomegaly, Hypospadias, Cholestasis, Abnormal spleen morphology, Failure to thrive, Chordee, R... OMIM:619488
Holoprosencephaly
Hypoplasia of penis, Hyponatremia, Abnormality of the spleen, Proteinuria, Abnormality of the uri... ORPHA:2162
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Gastrointestinal inflammation, Pyoderma, Respiratory distress, Dyspnea, Failure to ... ORPHA:79404
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Splenomegaly, Proteinuria, Micropenis OMIM:133540
Noonan Syndrome 1
Male infertility, Hypospadias, Chylothorax, Synovitis, Hypogonadism, Patent ductus arteriosus, Fa... OMIM:163950
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Proteinuria, Hepatic cysts, Hepatic fibrosis, Pancreatic cysts OMIM:311200
Ethylene Glycol Poisoning
Pulmonary edema, Renal tubular epithelial necrosis, Gastritis, Facial palsy, Tachypnea, Abnormal ... ORPHA:31826
Lowe Oculocerebrorenal Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Hypercholesterolemia, Elevated circulating crea... OMIM:309000
Timothy Syndrome
Hypothyroidism, Bronchitis, Pneumonia, Patent ductus arteriosus OMIM:601005
Rodrigues Blindness
Nasal flaring OMIM:268320
Hennekam-Beemer Syndrome
Optic atrophy, Failure to thrive, Pneumonia ORPHA:2135
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Gastritis, Anoperineal fistula, Bronchitis, Skin rash, Crohn's disease, A... OMIM:619381
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Recurrent lower respiratory tract infections, Arthritis, Skin rash, Chilblains, Ato... OMIM:615846
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Hypoplastic nipples, Absent nipple, Eczematoid dermatitis, Aplasia/Hypoplas... OMIM:305100
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Respiratory distress 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
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Kasabach-Merritt Phenomenon
Hepatic hemangioma, Hypopnea, Respiratory distress ORPHA:2330
Pfeiffer Syndrome Type 3
Respiratory distress ORPHA:93260
Generalized Arterial Calcification Of Infancy
Angioid streaks of the fundus, Choroidal neovascularization, Hepatic calcification, Respiratory d... ORPHA:51608
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent lower respiratory tract infections, Failure to thrive, Recurren... OMIM:600802
Hereditary Angioedema Type 1
Dyspnea, Respiratory distress ORPHA:100050
Oculopharyngodistal Myopathy 1
Brain atrophy, Facial palsy, Weight loss, Respiratory distress OMIM:164310
Colchicine Poisoning
Myocarditis, Respiratory distress ORPHA:31824
Congenital Tracheal Stenosis
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Respirato... ORPHA:141127
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Hepatomegaly, Exertional dyspnea, Cardi... ORPHA:99125
Williams Syndrome
Abnormal circulating lipid concentration, Chronic otitis media, Hypoplasia of penis, Nephrocalcin... ORPHA:904
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia OMIM:253700
Shwachman-Diamond Syndrome
Decreased response to growth hormone stimulation test, Pneumonia, Elevated circulating hepatic tr... ORPHA:811
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Stüve-Wiedemann Syndrome
Respiratory distress, Abnormal autonomic nervous system physiology, Hypothyroidism, Apnea, Ectopi... ORPHA:3206
Aymé-Gripp Syndrome
Pericarditis, Proteinuria ORPHA:1272
Alpha-Mannosidosis, Infantile Form
Subcortical cerebral atrophy, Cerebellar atrophy, Cerebral cortical atrophy, Hepatosplenomegaly, ... ORPHA:309282
Mucoepithelial Dysplasia, Hereditary
Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recurrent pneumonia, Pneumonia, Fibrocys... OMIM:158310
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Delayed puberty, Respiratory distress, Cyst of the ductus choledochus, Brain atrophy, Hypoplastic... ORPHA:480880
Eisenmenger Syndrome
Exertional dyspnea, Hepatomegaly, Respiratory distress, Bacterial endocarditis, Aortopulmonary wi... ORPHA:97214
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Increased serum testosterone level, Long penis, Hypoplasia of the thymus, Failure to... OMIM:264090
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent sinusitis,... OMIM:607944
Aortic Arch Interruption
Tachypnea, Aortopulmonary window, Exertional dyspnea, Respiratory distress ORPHA:2299
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return, Exertional dyspnea, Dyspnea ORPHA:99104
Bickerstaff Brainstem Encephalitis
Abnormal cranial nerve morphology, Facial palsy, Dyspnea, Abnormality of the autonomic nervous sy... ORPHA:79138
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hypospadias, Failure to thrive, Obesity, Otitis media, Patent ductus arteriosus, Pneumonia, Recur... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hypospadias, Failure to thrive, Obesity, Otitis media, Patent ductus arteriosus, Pneumonia, Recur... ORPHA:353277
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity, Nasal flaring ORPHA:466943
Amoebiasis Due To Free-Living Amoebae
Abnormality of the adrenal glands, Facial palsy, Myocardial necrosis, Sinusitis, Pustule, Respira... ORPHA:68
Mucopolysaccharidosis, Type Vi
Pneumonia, Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections OMIM:253200
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Orthopnea, Exertional dyspnea, Dyspnea ORPHA:99103
Isolated Arrhinia
Respiratory distress ORPHA:1134
Cleidocranial Dysplasia 1
Respiratory distress OMIM:119600
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Failure to thrive, Recurrent pneumonia, Respiratory distress ORPHA:99646

Histopathology

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

There is no histopathology data for Bsg

IMPC related publications

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

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

Order Mouse and ES Cells

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

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

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