Gene Summary

Name:
poly (ADP-ribose) polymerase family, member 1
Synonyms:
PARP,  Adprp,  5830444G22Rik,  parp-1,  Adprt1,  sPARP-1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
increased effector memory CD8-positive, alpha-beta T cell number Parp1tm1b(EUCOMM)Hmgu HOM   Early adult 2.08×10-06
abnormal spleen morphology Parp1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal eye morphology Parp1em1(IMPC)Ccpcz HOM Early adult 0.00
small seminal vesicle Parp1em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating creatinine level Parp1em1(IMPC)Ccpcz HOM Early adult 2.08×10-05
microphthalmia Parp1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal seminal vesicle morphology Parp1em1(IMPC)Ccpcz HOM Early adult 0.00
increased fasting circulating glucose level Parp1em1(IMPC)Ccpcz HOM Early adult 6.60×10-07
decreased grip strength Parp1tm1b(EUCOMM)Hmgu HOM   Early adult 2.30×10-05
immune system phenotype Parp1tm1b(EUCOMM)Hmgu HOM   Early adult 3.45×10-05
increased prepulse inhibition Parp1tm1b(EUCOMM)Hmgu HOM   Early adult 7.75×10-06
preweaning lethality, incomplete penetrance Parp1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased total retina thickness Parp1tm1b(EUCOMM)Hmgu HOM Early adult 1.39×10-07
decreased NK cell number Parp1tm1b(EUCOMM)Hmgu HOM   Early adult 1.63×10-07
abnormal retina inner nuclear layer morphology Parp1tm1b(EUCOMM)Hmgu HOM Early adult 1.16×10-05
enlarged spleen Parp1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal uterus morphology Parp1em1(IMPC)Ccpcz HOM Early adult 0.00

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Viewing: all phenotypes

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

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

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.

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 Similarity of
phenotypes
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