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Gene: Parp1 MGI:1340806

Gene Summary

Name:

poly (ADP-ribose) polymerase family, member 1

Synonyms:

PARP, Adprp, 5830444G22Rik, parp-1, Adprt1, sPARP-1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased effector memory CD8-positive, alpha-beta T cell number	Parp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.08×10^-06
abnormal spleen morphology	Parp1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal eye morphology	Parp1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small seminal vesicle	Parp1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating creatinine level	Parp1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.08×10^-05
microphthalmia	Parp1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Parp1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased fasting circulating glucose level	Parp1^{em1(IMPC)Ccpcz}	HOM	Early adult	6.60×10^-07
decreased grip strength	Parp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.30×10^-05
immune system phenotype	Parp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.45×10^-05
increased prepulse inhibition	Parp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.75×10^-06
preweaning lethality, incomplete penetrance	Parp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased total retina thickness	Parp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.39×10^-07
decreased NK cell number	Parp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.63×10^-07
abnormal retina inner nuclear layer morphology	Parp1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.16×10^-05
enlarged spleen	Parp1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal uterus morphology	Parp1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Parp1 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.

Human diseases associated with Parp1 (0 diseases)
Human diseases predicted to be associated with Parp1 (826 diseases)

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

The table below shows human diseases predicted to be associated to Parp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co...	ORPHA:567544
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho...	OMIM:619924
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Hyperuri...	OMIM:162000
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ...	OMIM:614817
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc...	OMIM:619468
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Combined Oxidative Phosphorylation Deficiency 34	Hypoglycemia, Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, Inc...	OMIM:617872
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot...	ORPHA:329918
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Immunodeficiency 102	Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells...	OMIM:301082
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Microphthalmia, Isolated 4	Absent testis, Microphthalmia	OMIM:613094
Xeroderma Pigmentosum, Complementation Group G	Defective DNA repair after ultraviolet radiation damage, Small for gestational age	OMIM:278780
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly	OMIM:618261
Immunodeficiency 15B	Reduced natural killer cell count, Monocytosis	OMIM:615592
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre...	OMIM:617056
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie...	ORPHA:79233
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level, Chromosomal breakage induced by ionizing radiation	OMIM:613078
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia	OMIM:618108
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Recurrent skin infections, ...	OMIM:617744
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creatinine	ORPHA:54057
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E...	OMIM:174000
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased...	OMIM:619510
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Mmep Syndrome	Cryptorchidism, Microphthalmia	ORPHA:3434
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne...	OMIM:612925
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I...	OMIM:179800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Fanconi Anemia, Complementation Group D1	Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Failure to thrive	OMIM:605724
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab...	OMIM:123550
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Malar rash, Increased susceptibility to spontaneous sister chromatid exchange, Decreased body weight	OMIM:618097
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Microphthalmia	ORPHA:2432
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:616050
Gombo Syndrome	Microphthalmia	OMIM:233270
Microphthalmia, Syndromic 12	Bicornuate uterus, Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:615524
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Chromosomal breakage induced by crosslinking agents, Failure to thrive, Decreased body weight	OMIM:619060
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612926
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure...	OMIM:300539
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc...	OMIM:615605
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Hearing impairment	OMIM:616435
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Increased circulating ferritin concen...	OMIM:613313
Isolated Splenogonadal Fusion	Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot...	ORPHA:457083
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents	OMIM:609054
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Immunodeficiency 54	Chromosome breakage, Failure to thrive	OMIM:609981
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Hyperammonemia, Hypoglycemia	ORPHA:664
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Fragile X Syndrome	Folate-dependent fragile site at Xq28, Periventricular heterotopia, Macrotia	OMIM:300624
Xeroderma Pigmentosum, Complementation Group F	Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid...	OMIM:278760
Transcobalamin Deficiency	Decreased circulating IgG level, Abnormality of chromosome stability, Decreased circulating IgA l...	ORPHA:859
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Gout, ...	OMIM:618061
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Fragile X Syndrome	Otitis media, Protruding ear, Sinusitis, Folate-dependent fragile site at Xq28, Chronic otitis me...	ORPHA:908
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hepatomeg...	OMIM:620010
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia	OMIM:619752
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a...	OMIM:619868
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias, Microphthalmia	ORPHA:141333
Preeclampsia	Abnormality of the hepatic vasculature, Type I diabetes mellitus, Elevated circulating creatinine...	ORPHA:275555
Microcephaly-Microcornea Syndrome, Seemanova Type	Hypogonadism, Microphthalmia	ORPHA:2528
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Glycogen Storage Disease Ixa1	Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly	OMIM:306000
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Hyperchole...	OMIM:612526
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Bloom Syndrome	Chromosome breakage, Decreased circulating IgG level, Abnormality of chromosome stability, Bronch...	OMIM:210900
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ...	OMIM:616860
Fanconi Anemia, Complementation Group A	Deficient excision of UV-induced pyrimidine dimers in DNA, Hearing impairment, Prolonged G2 phase...	OMIM:227650
Immunodeficiency 43	Reduced natural killer cell count, Lung abscess, B lymphocytopenia	OMIM:241600
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Fanconi Anemia, Complementation Group O	Chromosome breakage, Neonatal death	OMIM:613390
Fryns Microphthalmia Syndrome	Unicornuate uterus, Anophthalmia, Microphthalmia	OMIM:600776
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, External genital hypoplasia, Cryptorchidism, Microphthalmia	ORPHA:363741
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Fanconi Anemia, Complementation Group E	Deficient excision of UV-induced pyrimidine dimers in DNA, Hearing impairment, Prolonged G2 phase...	OMIM:600901
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I...	ORPHA:755
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Cholestasis, Elevated circulating creatinine concentration, Ascites, Cryptorchid...	OMIM:608104
Pgm3-Cdg	Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop...	ORPHA:443811
Galactosemia Iii	Aminoaciduria, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia	OMIM:230350
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Aplasia of the uterus, Elevated...	OMIM:273250
Matthew-Wood Syndrome	Annular pancreas, Abnormality of the uterus, Anophthalmia, Cryptorchidism, Abnormal spleen morpho...	ORPHA:2470
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
N Syndrome	Abnormality of chromosome stability, Hearing impairment	OMIM:310465
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cryptorchidism, Microphthalmia	OMIM:613730
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega...	OMIM:607616
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:614480
Fanconi Anemia, Complementation Group S	Chromosome breakage, Failure to thrive	OMIM:617883
Radial-Renal Syndrome	Chromosome breakage, Abnormal pinna morphology	OMIM:179280
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis	OMIM:179830
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Anemia, Lymphadenop...	OMIM:603552
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp...	OMIM:615234
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Deficient excision of UV-induced pyrimidine dimers in DNA, Hearing i...	OMIM:227645
46,Xy Sex Reversal 4	Gonadal dysgenesis, Elevated circulating creatinine concentration, Hypoplastic labia majora, Incr...	OMIM:154230
Nanophthalmos	Microphthalmia	ORPHA:35612
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul...	ORPHA:93126
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, T lymphocytopenia	OMIM:242860
Congenital Toxoplasmosis	Ascites, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Microphthalmia, Hepatomegaly, J...	ORPHA:858
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni...	OMIM:613095
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Hypogonadism, Elevated circulating creatinine concentrat...	ORPHA:85450
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:614082
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm...	OMIM:602390
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur...	ORPHA:335
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Cryptorchidism, Microphthalmia	OMIM:601794
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Gracile Bone Dysplasia	Ascites, Aniridia, Hypocalcemia, Microphthalmia, Micropenis, Asplenia, Hypoplastic spleen	OMIM:602361
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Glycosuria, Maturity-onset diabetes of the young, Exocrine pancreatic insu...	OMIM:137920
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomeg...	OMIM:616828
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly	ORPHA:75563
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Hemochromatosis, Type 1	Increased circulating iron concentration, Increased circulating ferritin concentration, Ascites, ...	OMIM:235200
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Coach Syndrome 2	Hepatic fibrosis, Elevated circulating creatinine concentration, Portal fibrosis, Congenital hepa...	OMIM:619111
46,Xy Sex Reversal 3	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Xk Aprosencephaly Syndrome	Abnormal external genitalia, Microphthalmia	ORPHA:3469
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Ocular albinism, Hepatosplen...	OMIM:608233
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Abnormal renal corticomedullary differentiation, R...	OMIM:616733
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Insulin-resista...	OMIM:262190
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:614376
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Congenital Rubella Syndrome	Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Splenomegaly, Anemia, Thrombocytopenia,...	ORPHA:290
Dyskeratosis Congenita, Autosomal Recessive 8	Reduced natural killer cell count, Pancytopenia, B lymphocytopenia	OMIM:620133
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Insulin insensitivity, Bifi...	ORPHA:90797
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Nanophthalmos 4	Microphthalmia	OMIM:615972
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Abnormality of chromosome stability	OMIM:600546
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por...	OMIM:616278
Fanconi Anemia, Complementation Group Q	Bone marrow hypocellularity, Chromosome breakage, Low-set ears	OMIM:615272
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Paraproteinemia, Elevated circulating creatinine conce...	ORPHA:439232
Oculocerebrocutaneous Syndrome	Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:164180
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Neonatal cholestatic liver disease, Cirrhosis, Hepatomegaly, Jaundi...	OMIM:214900
Glycogen Storage Disease Ixc	Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Fasting hypoglycemia, ...	OMIM:613027
Microphthalmia, Syndromic 8	Cryptorchidism, Microphthalmia	OMIM:601349
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Fanconi Anemia, Complementation Group I	Conductive hearing impairment, Bone marrow hypocellularity, Chromosomal breakage induced by cross...	OMIM:609053
Fanconi Anemia, Complementation Group D2	Low-set ears, Bone marrow hypocellularity, Deficient excision of UV-induced pyrimidine dimers in ...	OMIM:227646
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus...	ORPHA:232
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Rheumatoid arthritis, Elevated circulating creatinine concentration, Unilate...	ORPHA:49041
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Conductive hearing impairment, Failure to thrive, Chromos...	OMIM:603467
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T ce...	OMIM:243700
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Cofs Syndrome	Hypogonadism, Microphthalmia	ORPHA:1466
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Microcytic anemia, Hepatic steatosis, Pancreatitis, Microphthalmia, Hepatomegaly	OMIM:618805
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Hypouricemi...	ORPHA:411634
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Chromosome breakage, Cupped ear, Eczematoid dermatitis, Failure to t...	OMIM:617052
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Elevated circulating creatinine concentration, Anemia, Hyperkalemia	OMIM:620366
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:615085
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents	OMIM:617243
Warburg Micro Syndrome 1	External genital hypoplasia, Cryptorchidism, Microphthalmia	OMIM:600118
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Immunodeficiency 68	Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia	OMIM:612260
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,...	ORPHA:420741
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ...	ORPHA:221139
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Pneumonia, Hepatitis, Recurrent urinary tract infections, Fasciitis, Elevated ci...	ORPHA:36234
Ataxia-Telangiectasia	Abnormality of chromosome stability, Failure to thrive, Decreased circulating antibody level	ORPHA:100
Orthostatic Hypotension 2	Decreased glomerular filtration rate	OMIM:618182
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Hypoglycemia, Microphthalmia	ORPHA:48431
Pierpont Syndrome	Cryptorchidism, Microphthalmia	ORPHA:487825
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating creatinine concentration, Hyperbilirubinemia, Skin rash...	ORPHA:542323
Pierpont Syndrome	Micropenis, Cryptorchidism, Microphthalmia	OMIM:602342
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos...	OMIM:235700
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating...	OMIM:248250
Thrombotic Thrombocytopenic Purpura, Hereditary	Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ...	OMIM:274150
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Polymicrogyria, Elevated circulating creatinine concentration, Decreas...	OMIM:608836
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Meckel Syndrome, Type 8	Ambiguous genitalia, Anophthalmia, Enlarged kidney, Microphthalmia	OMIM:613885
Relapsing Fever	Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu...	ORPHA:91547
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic...	ORPHA:848
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ...	OMIM:616329
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Cryptorchidism, Go...	OMIM:194072
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:618858
Joubert Syndrome 37	Decreased testicular size, Cryptorchidism, Hepatomegaly, Microphthalmia, Micropenis	OMIM:619185
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Xfe Progeroid Syndrome	Failure to thrive, Hearing impairment, Premature ovarian insufficiency, Cachexia, Defective DNA r...	OMIM:610965
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hyperuricemia, Polycy...	ORPHA:79083
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr...	OMIM:613090
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Cholesteryl Ester Storage Disease	Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice	ORPHA:75234
Multiple Myeloma	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Decreased circul...	ORPHA:29073
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy...	OMIM:300635
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre...	OMIM:235400
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w...	OMIM:600802
Fanconi Anemia, Complementation Group U	Chromosome breakage, Patent ductus arteriosus	OMIM:617247
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Cholecystitis, Red...	OMIM:266200
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormally large globe, Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosp...	ORPHA:1655
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ...	OMIM:602347
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A...	OMIM:613673
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Microphthalmia	ORPHA:1135
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ...	OMIM:610582
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc...	OMIM:620282
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem...	OMIM:620430
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Cardiomegaly, Bilateral cryptorchidism	OMIM:618652
Lysinuric Protein Intolerance	Increased LDL cholesterol concentration, Hyperglycinemia, Increased circulating antibody level, G...	ORPHA:470
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis,...	OMIM:209950
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary...	OMIM:614841
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Hepatocellular ca...	OMIM:613490
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:606176
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents	OMIM:617244
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Gout, H...	OMIM:232200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas...	OMIM:620138
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Abnormality of the ...	ORPHA:1414
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased serum pyruvate, Neon...	OMIM:619046
Subaortic Stenosis-Short Stature Syndrome	Type II diabetes mellitus, Biliary tract abnormality, Abnormal circulating lipid concentration, M...	ORPHA:3191
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Mody	Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc...	ORPHA:552
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Reticulocytosis, Splen...	OMIM:618892
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Cryptorchidism, Microphthalmia, Micropenis, Optic nerv...	OMIM:610125
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Increase...	ORPHA:231222
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria, Elevated circulating creatinine concentration	ORPHA:90060
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis...	OMIM:614837
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia	ORPHA:93267
Xeroderma Pigmentosum, Complementation Group A	Conjunctivitis, Defective DNA repair after ultraviolet radiation damage, Keratitis, Sensorineural...	OMIM:278700
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ...	ORPHA:35078
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t...	ORPHA:64743
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Microphthalmia	ORPHA:2547
Xeroderma Pigmentosum, Complementation Group D	Defective DNA repair after ultraviolet radiation damage, Keratitis, Sensorineural hearing impairm...	OMIM:278730
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Congenital Disorder Of Glycosylation, Type Iit	Urinary incontinence, Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol ...	OMIM:618885
Developmental And Epileptic Encephalopathy 1	Micropenis, Microphthalmia	OMIM:308350
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Xeroderma Pigmentosum, Complementation Group E	Conjunctivitis, Defective DNA repair after ultraviolet radiation damage, Keratitis	OMIM:278740
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil...	OMIM:232240
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu...	OMIM:602522
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Bresek Syndrome	Decreased testicular size, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia	ORPHA:85284
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypopl...	OMIM:619151
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating antibody level, Scleritis, Elevated circulating C-reactive protein concentr...	ORPHA:91500
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Neutropenia	OMIM:617827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Fanconi Anemia, Complementation Group P	Chromosomal breakage induced by crosslinking agents, Hearing impairment	OMIM:613951
Fanconi Anemia, Complementation Group L	Low-set ears, Bone marrow hypocellularity, Chromosome breakage, Anotia, Chromosomal breakage indu...	OMIM:614083
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Estrogen Resistance	Breast aplasia, Hyperinsulinemia, Glucose intolerance, Polycystic ovaries, Hypoplasia of the uter...	OMIM:615363
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil...	OMIM:232220
Fish-Eye Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration	ORPHA:79292
Hydrolethalus	Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:2189
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance, Cryptorchidism, Microphthalmia	OMIM:214150
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Elevated circulating creatinine concentration, Reduced haptoglobin level,...	OMIM:301110
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male hypogonadism, Precocious puberty in females, Elevated circulating luteinizing hormone level,...	ORPHA:90793
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, Hypertrigl...	ORPHA:2348
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:79126
Trisomy 13	Abnormal morphology of female internal genitalia, Cryptorchidism, Anophthalmia, Displacement of t...	ORPHA:3378
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	ORPHA:79477
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Cerebrooculofacioskeletal Syndrome 2	Micropenis, Small scrotum, Microphthalmia	OMIM:610756
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Xeroderma Pigmentosum, Complementation Group C	Conjunctivitis, Defective DNA repair after ultraviolet radiation damage, Keratitis	OMIM:278720
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Hyperglycemia, Portal hypertension, Splenomegaly, C...	ORPHA:465508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:613155
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplasia of penis, Hypospadias	ORPHA:77298
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Recurrent hypoglycemia, Splenomegaly, Elevated circulating creatine kinase conc...	ORPHA:79240
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypocal...	OMIM:241410
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr...	ORPHA:90038
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Maturity-onset diabetes of the young,...	OMIM:609812
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Pneumonia, Elevated circulating creatinine concentration, Skin rash, Proteinuria, Gl...	ORPHA:247691
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep...	ORPHA:488627
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Hypogonadism, Small scrotum, Cryptorchidism, Microphthalmia	ORPHA:228390
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Pelvic mass, Vaginal hematocele, ...	ORPHA:65681
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp...	OMIM:602450
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Microphthalmia	OMIM:602501
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen...	OMIM:601859
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Lymphopenia, Abdominal adhesions, Neutropenia, Microphthalmia	OMIM:616395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration	OMIM:615181
Trichothiodystrophy	Defective DNA repair after ultraviolet radiation damage, Eczematoid dermatitis, Panhypogammaglobu...	ORPHA:33364
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Lissencephaly 8	Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:617255
Warburg Micro Syndrome 4	Small scrotum, Decreased testicular size, Cryptorchidism, Microphthalmia, Micropenis	OMIM:615663
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate...	OMIM:601847
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Microphthalmia	OMIM:614402
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Hypoglycemia, Cholestasis, Hepatic steatosis, Splenomegaly, El...	ORPHA:264580
Fanconi Anemia, Complementation Group N	Chromosomal breakage induced by crosslinking agents, Small for gestational age	OMIM:610832
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:618117
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly	OMIM:618107
Mullerian Aplasia And Hyperandrogenism	Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration	OMIM:613153
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elev...	ORPHA:340
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Seckel Syndrome 2	Hypospadias, Microphthalmia	OMIM:606744
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty, Microphthalmia	ORPHA:2788
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge...	OMIM:223900
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Microphthalmia With Brain And Digit Anomalies	Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:139471
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Abnormal scrotum morphology, Cryptorchidism, Microphthalmia, Hypospadias	ORPHA:2505
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Bone marrow hypocellularity, Decreased pineal volume	OMIM:301108
Fanconi Anemia, Complementation Group B	Low-set ears, Abnormality of chromosome stability, Hypogonadism, Overfolded helix, Patent ductus ...	OMIM:300514
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal f...	OMIM:251880
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:617690
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Moebius Syndrome	Micropenis, Decreased testicular size, Hypogonadotropic hypogonadism, Microphthalmia	OMIM:157900
Braddock-Carey Syndrome 2	Thrombocytopenia, Microphthalmia	OMIM:619981
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Anemia, Eosinophilia, Monocytopenia, Thr...	OMIM:226990
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Intrahepatic cholestasis, Hypocholesterolemia, Splenomegaly, Cirrhosis, Ach...	OMIM:607765
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No...	OMIM:613470
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
De Sanctis-Cacchione Syndrome	Conjunctivitis, Defective DNA repair after ultraviolet radiation damage, Keratitis, Sensorineural...	OMIM:278800
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperglycemia, Hyperinsulinemia, T...	OMIM:151660
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Hyperbilirubinemia, Splenomegaly,...	OMIM:613812
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Macrophage Activation Syndrome	Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce...	ORPHA:158061
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou...	ORPHA:79124
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm...	OMIM:301078
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ...	OMIM:612310
Warburg Micro Syndrome 2	Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis	OMIM:614225
Mosaic Trisomy 9	Hypoplastic female external genitalia, Abnormality of the uterus, Cryptorchidism, Abnormal fallop...	ORPHA:99776
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Baraitser-Winter Syndrome 1	Micropenis, Cryptorchidism, Microphthalmia	OMIM:243310
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Warburg Micro Syndrome 3	Small scrotum, Decreased testicular size, Microphthalmia, Micropenis, Hypoplastic labia minora	OMIM:614222
Gaucher Disease Type 1	Elevated circulating CCL18 level, Splenic infarction, Cholelithiasis, Increased circulating ferri...	ORPHA:77259
Immunodeficiency 10	Hypoglycemia, Hypoplasia of the iris, Autoimmune hemolytic anemia, Splenomegaly, Abnormal lymphoc...	OMIM:612783
Icf Syndrome	Low-set ears, Abnormality of chromosome stability, Decreased circulating antibody level	ORPHA:2268
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Immunodeficiency 9	Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count	OMIM:612782
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Hypoglycemia, Elevated circulating creati...	ORPHA:99826
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619665
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619203
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaundice	OMIM:235555
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Cryptorchidism, Microphthalmia	ORPHA:494344
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo...	OMIM:278850
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Beta-alaninuria, Elevated urinary aminoisobutyric acid, Microphthalmia, Methylmalonic acidemia	OMIM:614105
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom...	OMIM:615947
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperglycemia, Hyperbilirubinemia,...	OMIM:615710
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro...	OMIM:603554
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cryptorchidism, Microphthalmia	OMIM:618494
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypocalcemia, Hypoparathyroidism, Aplas...	ORPHA:2237
Estrogen Resistance Syndrome	Breast hypoplasia, Hyperinsulinemia, Glucose intolerance, Enlarged polycystic ovaries, Increased ...	ORPHA:785
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc...	OMIM:603553
Micro Syndrome	Cryptorchidism, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplasia	ORPHA:2510
Meckel Syndrome, Type 5	Bile duct proliferation, Microphthalmia	OMIM:611561
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Hyperammonemia, Splenomegaly, Hepatome...	OMIM:618641
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Walker-Warburg Syndrome	Abnormal circulating creatine kinase concentration, Cryptorchidism, Anophthalmia, Microphthalmia,...	ORPHA:899
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Hypoplasia of the ...	OMIM:601186
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Decreased proportion of naive T cells, Splenomegaly, B lymphoc...	OMIM:619381
Tetraamelia-Multiple Malformations Syndrome	Vaginal atresia, Septo-optic dysplasia, Cryptorchidism, Microphthalmia	ORPHA:3301
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Kapur-Toriello Syndrome	Hypoplastic labia majora, Hypoplasia of penis, Microphthalmia	ORPHA:2328
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Meckel Syndrome	Accessory spleen, Cryptorchidism, Anophthalmia, True hermaphroditism, Aplasia/Hypoplasia of the i...	ORPHA:564
Meningioma	Obesity, Tinnitus, Hypogonadotropic hypogonadism, Amenorrhea, Chromosomal breakage induced by ion...	ORPHA:2495
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogonadism, Decreased testicular size, Splenomegaly, Decreased serum zinc, Hepatomegaly	OMIM:201100
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Cryptorchidism, Microphthalmia	ORPHA:2728
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin	ORPHA:90037
Beta-Thalassemia Major	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231214
Ring Chromosome 10 Syndrome	Hypocalcemia, Microphthalmia	ORPHA:1438
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, T...	ORPHA:457077
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Breast hy...	ORPHA:432
Manitoba Oculotrichoanal Syndrome	Vaginal atresia, Anophthalmia, Microphthalmia	OMIM:248450
Marden-Walker Syndrome	Micropenis, Hypospadias, Cryptorchidism, Microphthalmia	OMIM:248700
Kapur-Toriello Syndrome	Micropenis, Hypoplastic labia majora, Cryptorchidism, Microphthalmia	OMIM:244300
Satoyoshi Syndrome	Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u...	ORPHA:3130
Refsum Disease	Splenomegaly, Microphthalmia	ORPHA:773
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Microphthalmia	OMIM:619053
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hyperlipidemia, Hepatic steatosis, Portal hypertension, Splenom...	ORPHA:567983
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Cryptorchidism, Microphthalmia	ORPHA:404440
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Stomatocytosis, Hyperbilirubinemia, Abnormal erythro...	ORPHA:288
Alkaptonuria	Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Nephrolithi...	OMIM:203500
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T...	ORPHA:158048
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Microphthalmia With Limb Anomalies	Unilateral cryptorchidism, Anophthalmia, Microphthalmia	OMIM:206920
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Reduced haptoglobin level, ...	OMIM:611881
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Ritscher-Schinzel Syndrome 3	Cryptorchidism, Microphthalmia	OMIM:619135
Meckel Syndrome 14	Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Microphthalmia	OMIM:619879
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi...	OMIM:210250
Structural Heart Defects And Renal Anomalies Syndrome	Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency	OMIM:617478
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Satoyoshi Syndrome	Hypoplasia of the uterus, Mildly elevated creatine kinase	OMIM:600705
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia, Microphthalmia	OMIM:612379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe, Elevated circulating creatine kinase concentration	OMIM:615249
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypogonadism, External genital hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplas...	ORPHA:2250
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Cryptorchidism, Supernumerary nipple	OMIM:612530
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Poly...	OMIM:608594
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Cryptorchidism, Bilateral microphthalmos	ORPHA:369891
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Bifid scrotum, Cryptorchidism, Left ventricular hypertrophy, Microphth...	OMIM:619148
Meckel Syndrome, Type 2	Bile duct proliferation, Microphthalmia	OMIM:603194
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Polycy...	ORPHA:90796
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration	ORPHA:370959
Tetraamelia Syndrome 1	Absent external genitalia, Adrenal gland agenesis, Microphthalmia, Vaginal atresia, Asplenia, Hyp...	OMIM:273395
Perrault Syndrome 4	Increased circulating gonadotropin level, Hypoplasia of the uterus, Hypoplasia of the ovary, Bico...	OMIM:615300
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig...	ORPHA:90794
Yellow Fever	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperbilirubinemia, R...	ORPHA:99829
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Cryptorchidism, Microphthalmia	OMIM:613001
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology	ORPHA:247768
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi...	OMIM:147250
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Labial hypertrophy, Hyperinsulinemia, Type II diabetes mellitus, Hepatic st...	OMIM:269700
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cryptorchidism, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituit...	OMIM:206900
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Exocrine pancreatic insufficiency, ...	OMIM:620005
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Pseudotrisomy 13 Syndrome	Micropenis, Bicornuate uterus, Cryptorchidism, Microphthalmia	OMIM:264480
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Hypoparathyroidism	OMIM:146255
Martsolf Syndrome 1	Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Microphthalmia	OMIM:212720
Jacobsen Syndrome	Annular pancreas, Cryptorchidism, Macular hypoplasia, Labial hypoplasia, Thrombocytopenia, Microp...	OMIM:147791
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Splenomegaly, Anemia, Hypophosphatemia, Calcinosis, Hepatomegaly, Hypercalcemia, P...	OMIM:239200
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Hypospadias, Microphthalmia	OMIM:616449
Vacterl With Hydrocephalus	Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:3412
Lig4 Syndrome	Abnormality of chromosome stability	ORPHA:99812
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina	ORPHA:3109
Meckel Syndrome, Type 4	Bile duct proliferation, Microphthalmia	OMIM:611134
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Anemia, Transient hypophosphatemia, Microphthalmia, Hypoparathyr...	OMIM:127000
Holoprosencephaly	Hypoglycemia, Panhypopituitarism, Abnormality of the spleen, Cryptorchidism, Anophthalmia, Hypona...	ORPHA:2162
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Adams-Oliver Syndrome	Ascites, Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Thrombocytopeni...	ORPHA:974
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cryptorchidism, Microphthalmia	ORPHA:284160
Meckel Syndrome, Type 1	Malformation of the hepatic ductal plate, Elevated amniotic fluid alpha-fetoprotein, Accessory sp...	OMIM:249000
Microphthalmia, Lenz Type	Hypospadias, Cryptorchidism, Microphthalmia	ORPHA:568
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Monosomy 18P	Microphthalmia	ORPHA:1598
Woodhouse-Sakati Syndrome	Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicular size, Decreased response ...	ORPHA:3464
Histiocytoid Cardiomyopathy	Hypoglycemia, Congenital aphakia, Polycystic ovaries, Cardiomegaly, Microphthalmia, Hepatomegaly	ORPHA:137675
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Microphthalmia	OMIM:620601
Woodhouse-Sakati Syndrome	Decreased testicular size, Hyperlipidemia, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia ...	OMIM:241080
Isolated Biliary Atresia	Periportal fibrosis, Hypopituitarism, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged n...	ORPHA:30391
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Ovotestis, Chordee, Microphthalmia, Micropenis, Hypoplasia of the uterus, H...	OMIM:309801
Temtamy Syndrome	Microphthalmia	OMIM:218340
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Fryns Syndrome	Bicornuate uterus, Hypospadias, Cryptorchidism, Microphthalmia	ORPHA:2059
Chromosome 8Q21.11 Deletion Syndrome	Micropenis, Cryptorchidism, Microphthalmia	OMIM:614230
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Hypoplasia of the uterus, Microphthalmia	OMIM:110100
Ohdo Syndrome, X-Linked	Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis	OMIM:300895
Cartilage-Hair Hypoplasia	Abnormality of chromosome stability, Failure to thrive, Low-set, posteriorly rotated ears, Decrea...	ORPHA:175
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Microphthalmia	OMIM:618914
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Cryptorchidism, Hepatopulmonary fusion, Aplasia of the uterus, A...	OMIM:618280
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Anophthalmia, Perineal fistula, Microphthalmia, Hepatomegaly, Rectovag...	ORPHA:2538
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Hypospadias, Anophthalmia, Microphthalmia	OMIM:615877
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Unilateral microphthalmos	OMIM:618874
Oeis Complex	Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute...	OMIM:258040
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Supernumerary nipple	OMIM:620098
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Dubowitz Syndrome	Aplastic anemia, Hypoplasia of the iris, Hypocholesterolemia, Cryptorchidism, Microphthalmia, Acu...	OMIM:223370
Nijmegen Breakage Syndrome	Recurrent pneumonia, Abnormality of chromosome stability, Abnormality of neuronal migration, Cach...	ORPHA:647
Bosma Arhinia Microphthalmia Syndrome	Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Microphthalmia, Micropen...	OMIM:603457
Townes-Brocks Syndrome 2	Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cryptorchidism, Elevated circulating creatine kinase concentration, Microphthalmia, Buphthalmos, ...	OMIM:236670
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Cohen Syndrome	Cryptorchidism, Neutropenia, Microphthalmia	ORPHA:193
Tyrosinemia, Type I	Hypermethioninemia, Hypoglycemia, Ascites, Hypophosphatemic rickets, Splenomegaly, Pancreatic isl...	OMIM:276700
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased glomerular filtration rate, Renal ...	OMIM:614748
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increas...	OMIM:620376
Fanconi Anemia	Abnormality of the uterus, Hypogonadism, Azoospermia, Abnormality of the liver, Leukopenia, Crypt...	ORPHA:84
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Orchitis, Hepatomegaly, Peritonitis, Elevated circulating amyloid A c...	OMIM:249100
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Mosaic Trisomy 1	Micropenis, Hepatic agenesis, Penile hypospadias, Microphthalmia	ORPHA:1692
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Fraser Syndrome 2	Hypoplasia of the thymus, Ambiguous genitalia, Microphthalmia	OMIM:617666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Microphthalmia, Buphthalmos, Elevated circulating creatine kinase concentration	OMIM:616538
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Fryns Syndrome	Ectopic pancreatic tissue, Bifid scrotum, Polysplenia, Cryptorchidism, Shawl scrotum, Microphthal...	OMIM:229850
Incontinentia Pigmenti	Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Hypoplasia of the fovea, H...	OMIM:308300
Treacher-Collins Syndrome	Small scrotum, Cryptorchidism, Hypoplasia of the thymus, Microphthalmia, Hypoplasia of penis, Rec...	ORPHA:861
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,...	OMIM:119500
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Hypoplasia of penis, Thyroid hy...	ORPHA:2166
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Bilateral microphthalmos, Decreased testicular size, Hypocalcemic tetany, Cong...	ORPHA:93325
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia, Microphthalmia	ORPHA:35173
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Xeroderma Pigmentosum, Complementation Group B	Hypogonadism, Microphthalmia	OMIM:610651
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Hypospadias, Male urethral meatus stenosis, Microphthalmia	ORPHA:464738
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Thrombocytopenia	ORPHA:3320
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Rodrigues Blindness	Microphthalmia	OMIM:268320
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Skin Creases, Congenital Symmetric Circumferential, 1	Hypoplastic nipples, Microphthalmia	OMIM:156610
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Uterus didelphys, Septate vagina, Absent gallbladder, Microphthalmia, Micropenis	OMIM:617925
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Hepatic fibrosis, Biliary cirrhosis, Increased circulating ferritin concentratio...	OMIM:619534
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Joubert Syndrome 2	Hypoplastic male external genitalia, Microphthalmia	OMIM:608091
Meckel Syndrome 12	Vaginal atresia, Hypoplasia of the uterus	OMIM:616258
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Trichothiodystrophy 1, Photosensitive	Hypogonadism, Microphthalmia	OMIM:601675
Bartsocas-Papas Syndrome 1	Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Ambiguous genitali...	OMIM:263650
Cockayne Syndrome B	Hypoplasia of the iris, Cryptorchidism, Splenomegaly, Hepatomegaly, Microphthalmia, Micropenis	OMIM:133540
Pallister-Hall Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s...	OMIM:146510
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester...	OMIM:615812
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Clitoral hypertrophy, Anophthalmia, Male pseudohermaphroditism, Ambigu...	ORPHA:2556
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic...	OMIM:618419
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Microphthalmia	ORPHA:250989
3Q29 Microdeletion Syndrome	Hypospadias, Microphthalmia	ORPHA:65286
Trisomy 18	Microphthalmia, Cryptorchidism, Abnormal morphology of female internal genitalia	ORPHA:3380
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Microphthalmia, Bifid ute...	OMIM:236680
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Mend Syndrome	Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Cryptorchidism, Microphthalmia	ORPHA:401973
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Hypoplastic nipples, Microphthalmia, Prolonged neonatal jau...	OMIM:620186
Chondrodysplasia Punctata 2, X-Linked Dominant	Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Microphthalmia	OMIM:302960
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Cousin Syndrome	Ambiguous genitalia, male, Ambiguous genitalia, female, Microphthalmia	OMIM:260660
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Ambiguous genitalia, Cryptorchidism, Microphthalmia	OMIM:616300
Degcags Syndrome	Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Cryptorchidism, Leukopenia, Ch...	OMIM:619488
Mosaic Variegated Aneuploidy Syndrome	Ascites, Vaginal neoplasm, Ambiguous genitalia, Microphthalmia, Acute lymphoblastic leukemia	ORPHA:1052
Rothmund-Thomson Syndrome, Type 2	Hypogonadism, Annular pancreas, Cryptorchidism, Microphthalmia	OMIM:268400
2Q31.1 Microdeletion Syndrome	Cryptorchidism, Microphthalmia	ORPHA:251014
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Atelis Syndrome 2	Anemia, Hyperinsulinemia, Thrombocytopenia, Microphthalmia	OMIM:620185
Hallermann-Streiff Syndrome	Cryptorchidism, Abdominal situs inversus, Microphthalmia	ORPHA:2108
22Q11.2 Deletion Syndrome	Cholelithiasis, Abnormality of the uterus, Cryptorchidism, Hypocalcemia, Splenomegaly, Hypoplasia...	ORPHA:567
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Hyperparathyroidism, Azoospermia, Cryptorchidism, Hyponatremia, Hypokalemia, Anemi...	ORPHA:534
Roberts Syndrome	Clitoral hypertrophy, Long penis, Cryptorchidism, Thrombocytopenia, Microphthalmia	ORPHA:3103
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Bilateral microphthalmos	ORPHA:2839
Cockayne Syndrome	Splenomegaly, Cryptorchidism, Hyperuricemia, Microphthalmia, Hepatomegaly, Diabetes mellitus	ORPHA:191
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Buphthalmos, Elevated circulating creatine kinase concentration	OMIM:613150
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Hallermann-Streiff Syndrome	Cryptorchidism, Microphthalmia	OMIM:234100
Limb-Mammary Syndrome	Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ...	ORPHA:69085
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia	OMIM:120200
Frontorhiny	Hypopituitarism, Microphthalmia	ORPHA:391474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:253800
Fraser Syndrome	Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Anophtha...	ORPHA:2052
Phocomelia, Schinzel Type	Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism	ORPHA:2879
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Annular pancreas, Microphthalmia	OMIM:616975
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia	ORPHA:457284
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:609441
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Ovarian carcinoma, Microphthalmia	OMIM:109400
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Microphthalmia	OMIM:617729
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Cryptorchidism, Microphthalmia, Micropenis, Hypospadias, Clitoral hypoplasia	OMIM:609945
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Abnormal circulating lipid concentration, Increased LDL cholesterol concentration...	ORPHA:77293
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Microphthalmia	OMIM:300952
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Aplasia of the uterus, Eosinophilia, Thrombocytopenia, Anemia, ...	OMIM:274000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration	OMIM:614643
Phace Association	Microphthalmia, Optic nerve hypoplasia, Lingual thyroid	OMIM:606519
Incontinentia Pigmenti	Microphthalmia, Eosinophilia, Supernumerary nipple	ORPHA:464
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Hypoplasia of the iris, Microphthalmia	OMIM:251300
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple	ORPHA:1521
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Monosomy 9P	Ambiguous genitalia, Hypospadias, Cryptorchidism, Microphthalmia	ORPHA:261112
Fraser Syndrome 1	Clitoral hypertrophy, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Micropenis, Abnorma...	OMIM:219000
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Chromosome 13Q14 Deletion Syndrome	Micropenis, Microphthalmia, Cryptorchidism, Supernumerary nipple	OMIM:613884
Monosomy 9Q22.3	Ovarian fibroma, Microphthalmia	ORPHA:77301
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Hypotriglyceridemia, Microphthalmia	ORPHA:85167
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus	OMIM:615866
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Hypospadias, Cryptorchidism, Microphthalmia	OMIM:616734
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Hypoglycemia, Cryptorc...	OMIM:201750
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Exocrine pancreatic insufficiency, Optic nerve hypoplasia, Hypospadias, Microphthalmia	ORPHA:508498
Charge Syndrome	Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st...	OMIM:214800
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Cryptorchidism, Elevated circulating cr...	OMIM:309000
Pallister-Hall Syndrome	Precocious puberty, Small scrotum, Secondary growth hormone deficiency, Aplasia/Hypoplasia of the...	ORPHA:672
Exstrophy-Epispadias Complex	Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Bifid uterus, A...	ORPHA:322
Charge Syndrome	Bifid scrotum, Abnormal morphology of female internal genitalia, Cryptorchidism, Anophthalmia, Hy...	ORPHA:138
Holoprosencephaly 9	Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit...	OMIM:610829
Wolf-Hirschhorn Syndrome	Precocious puberty, Accessory spleen, Rieger anomaly, Cryptorchidism, Biliary tract abnormality, ...	OMIM:194190
Pierson Syndrome	Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasia, Micro...	OMIM:609049
Aicardi Syndrome	Precocious puberty, Hepatoblastoma, Microphthalmia	ORPHA:50
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Increased hepatic echogenicity, Microphthalmia	OMIM:608940
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Microphthalmia	OMIM:221900
Okamoto Syndrome	Bifid uterus, Abnormally large globe, Splenomegaly	ORPHA:2729
Steinfeld Syndrome	Absent gallbladder, Microphthalmia	OMIM:184705
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Microphthalmia	OMIM:607323
Yunis-Varon Syndrome	Clitoral hypertrophy, Bilateral microphthalmos, Cryptorchidism, Cardiomegaly, Hypoplastic labia m...	ORPHA:3472
Microphthalmia With Limb Anomalies	True anophthalmia, Cryptorchidism, Microphthalmia	ORPHA:1106
Cat Eye Syndrome	Biliary atresia, Microphthalmia	OMIM:115470
Cockayne Syndrome Type 3	Hepatomegaly, Splenomegaly, Microphthalmia	ORPHA:90324
Microphthalmia, Syndromic 2	Septate vagina, Cryptorchidism, Anophthalmia, Phthisis bulbi, Microphthalmia, Hypospadias	OMIM:300166
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Fontaine Progeroid Syndrome	Small scrotum, Absent nipple, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Left...	OMIM:612289
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microphallus, Bilateral microphthalmos, Cryptorchidism, Hypospadias, Optic nerve hypoplasia	ORPHA:468631
Norrie Disease	Uterine rupture, Hypoplasia of the iris, Cryptorchidism, Aplasia/Hypoplasia of the lens, Micropht...	ORPHA:649
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia	ORPHA:2092
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Holoprosencephaly 1	Micropenis, Hypoglycemia, Microphthalmia	OMIM:236100
Aicardi Syndrome	Precocious puberty, Hepatoblastoma, Microphthalmia	OMIM:304050
Oculoauricular Syndrome	Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia	OMIM:612109
Linear Nevus Sebaceus Syndrome	Microphthalmia, Adenoma sebaceum	ORPHA:2612
Myhre Syndrome	Cryptorchidism, Microphthalmia	OMIM:139210
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Supernumerary nipple	OMIM:100300
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Townes-Brocks Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Cryptorchidism, Rectoperine...	ORPHA:857
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Clitoral hypertrophy, Long penis, Enlarged labia minora, Cryptorchidism, Biliar...	OMIM:268300
Renpenning Syndrome 1	Decreased testicular size, Hypospadias, Phimosis, Microphthalmia	OMIM:309500
Focal Dermal Hypoplasia	Supernumerary nipple, Aniridia, Cryptorchidism, Anophthalmia, Hypoplastic nipples, Labial hypopla...	OMIM:305600
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Neu-Laxova Syndrome 1	Bifid uterus, Cryptorchidism, Microphthalmia	OMIM:256520
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukemia, Anophthalmia, Microphthalmia	ORPHA:2526
Ehlers-Danlos Syndrome, Vascular Type	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Anemia, Cervical insufficiency	OMIM:130050
Traboulsi Syndrome	Homocystinuria, Microphthalmia	OMIM:601552
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Microphthalmia	ORPHA:3186
Treacher Collins Syndrome 1	Bilateral microphthalmos, Cryptorchidism, Abnormal parotid gland morphology	OMIM:154500
Proboscis Lateralis	External genital hypoplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	ORPHA:141099
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia, Ectopic thyroid	ORPHA:42775
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microphthalmia	ORPHA:959
Witteveen-Kolk Syndrome	Male urethral meatus stenosis, Microphallus, Decreased response to growth hormone stimulation tes...	OMIM:613406
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Branchiooculofacial Syndrome	Supernumerary nipple, Ectopic thymus tissue, Cryptorchidism, Anophthalmia, Microphthalmia, Duplic...	OMIM:113620
Holoprosencephaly 7	Panhypopituitarism, Bilateral microphthalmos, Microphthalmia	OMIM:610828
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Microphthalmia, Syndromic 6	Small scrotum, Cryptorchidism, Anophthalmia, Microphthalmia, Female hypogonadism, Anterior hypopi...	OMIM:607932
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Streak ovary, Polycyst...	ORPHA:572333
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypoplastic...	OMIM:276820
Coffin-Siris Syndrome 1	Aplasia of the uterus, Clitoral hypertrophy, Hypospadias, Cryptorchidism	OMIM:135900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Microphthalmia, Buphthalmos, Hypoplasia of the retina, Elevated circulating creatine kinase conce...	OMIM:253280
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Bifid scrotum, Septate vagina, Cryptorchidism, Chordee, Microphthalmia, Micropenis,...	ORPHA:261537
Townes-Brocks Syndrome 1	Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa...	OMIM:107480
Mowat-Wilson Syndrome	Bifid scrotum, Supernumerary nipple, Cryptorchidism, Microphthalmia, Hypospadias	OMIM:235730
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Mowat-Wilson Syndrome	Webbed penis, Bifid scrotum, Septate vagina, Cryptorchidism, Chordee, Microphthalmia, Micropenis,...	ORPHA:2152
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Webbed penis, Bifid scrotum, Septate vagina, Cryptorchidism, Chordee, Microphthalmia, Micropenis,...	ORPHA:261552
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hypoplasia of the iris, Hemolytic anemia, Elevated circulating creatine kinase co...	OMIM:175780
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypokalemia, Hypospadias	ORPHA:286
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Peters-Plus Syndrome	Cryptorchidism, Biliary tract abnormality, Hypoplastic labia majora, Hypoplasia of the vagina, Bi...	OMIM:261540
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Neuroocular Syndrome 1	Hypoplasia of the fovea, Lens coloboma, Microphthalmia	OMIM:619539
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Exocrine pancreatic insufficiency, Bilateral microphthalmos, Optic n...	ORPHA:508488
Peters Plus Syndrome	Cryptorchidism, Hypoplasia of the uterus, Hypospadias, Anterior hypopituitarism, Clitoral hypoplasia	ORPHA:709
Pallister-Killian Syndrome	Small scrotum, Supernumerary nipple, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia maj...	OMIM:601803
Holoprosencephaly 2	Anterior pituitary agenesis, Microphthalmia	OMIM:157170
Microphthalmia, Syndromic 1	Hypospadias, Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:309800
Craniofacial Microsomia 1	Anophthalmia, Microphthalmia	OMIM:164210

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 Parp1

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 Parp1.

There are 10 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
PARP12 is required to repress the replication of a Mac1 mutant coronavirus in a cell- and tissue-specific manner.	Journal of virology (September 2023)	Parp12^{tm1.1(KOMP)Vlcg}	PMC10537751
Poly(ADP-Ribose) Polymerase-1 Lacking Enzymatic Activity Is Not Compatible with Mouse Development.	Cells (August 2023)	Parp1^{tm1c(EUCOMM)Hmgu}	PMC10453916
Deficiency of PARP-1 and PARP-2 in the mouse uterus results in decidualization failure and pregnancy loss.	Proceedings of the National Academy of Sciences of the United States of America (October 2021)	Parp1^{tm1c(EUCOMM)Hmgu}	34580230
PARP1-mediated PARylation activity is essential for oligodendroglial differentiation and CNS myelination.	Cell reports (October 2021)	Parp1^{tm1c(EUCOMM)Hmgu}	34610310
Functional Interplay between Histone H2B ADP-Ribosylation and Phosphorylation Controls Adipogenesis.	Molecular cell (August 2020)	Parp1^{tm1c(EUCOMM)Hmgu}	PMC7502539
Differential regulation of breast cancer bone metastasis by PARP1 and PARP2.	Nature communications (March 2020)	Parp1^{tm1c(EUCOMM)Hmgu}	PMC7101362
ARTD1 in Myeloid Cells Controls the IL-12/18-IFN-γ Axis in a Model of Sterile Sepsis, Chronic Bacterial Infection, and Cancer.	Journal of immunology (Baltimore, Md. : 1950) (January 2019)	Parp1^{tm1c(EUCOMM)Hmgu}	30674576
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.	PloS one (July 2017)	Parp16^{tm1.1(KOMP)Mbp}	PMC5503261
PARP-1 Controls the Adipogenic Transcriptional Program by PARylating C/EBPβ and Modulating Its Transcriptional Activity.	Molecular cell (January 2017)	Parp1^{tm1c(EUCOMM)Hmgu} Parp1^{tm1a(EUCOMM)Hmgu}	PMC5258183
Spermatid head elongation with normal nuclear shaping requires ADP-ribosyltransferase PARP11 (ARTD11) in mice.	Biology of reproduction (February 2015)	Parp11^{tm1(KOMP)Vlcg}	PMC4376083

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MGI Allele	Allele Type	Produced
Parp1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Parp1^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Parp1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Parp1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Parp1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Parp1 MGI:1340806

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lacZ Expression

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Immunophenotyping

Human diseases caused by Parp1 mutations

Histopathology

IMPC related publications

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