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Gene: Il9 MGI:96563

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Gene Summary

Name:
interleukin 9
Synonyms:
Il-9,  P40

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
abnormal uterus morphology Il9em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Il9em1(IMPC)Mbp HOM Early adult 0.00
increased circulating alanine transaminase level Il9em1(IMPC)Mbp HOM Early adult 7.24×10-05
enlarged testis Il9em1(IMPC)Mbp HOM Early adult 0.00
cataract Il9em1(IMPC)Mbp HOM   Early adult 2.80×10-08
small liver Il9em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Il9em1(IMPC)Mbp HOM Early adult 0.00
small kidney Il9em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Il9em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Il9em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Il9em1(IMPC)Mbp HOM Early adult 9.70×10-05
enlarged spleen Il9em1(IMPC)Mbp 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 Dorso Ventral

45 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Human diseases caused by Il9 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 Il9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Candidiasis, Familial, 4
Onychomycosis, Recurrent vulvovaginal candidiasis OMIM:613108
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al... OMIM:245480
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract, 3-Methylglutaconic aciduria OMIM:619813
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Galactosemia Ii
Cataract, Hypergalactosemia, Galactosuria, Prolonged neonatal jaundice OMIM:230200
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Polyembryoma
Abnormal peritoneum morphology, Abdominal mass, Isosexual precocious puberty, Elevated circulatin... ORPHA:180229
Galactosemia Iv
Cataract, Hypergalactosemia, Prolonged neonatal jaundice OMIM:618881
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... OMIM:613313
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga... OMIM:620010
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria ORPHA:79238
Partington Syndrome
Macroorchidism ORPHA:94083
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Hyperphosphaturia, Elevated circulating growth hor... ORPHA:562
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... OMIM:615234
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia OMIM:230350
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Sepsis, L... ORPHA:33355
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Galactosemia I
Hepatomegaly, Hemolytic anemia, Cataract, Hypergonadotropic hypogonadism, Elevated circulating as... OMIM:230400
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Premature ovarian insufficiency, Congenital hepati... ORPHA:3156
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... OMIM:603552
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Hypergonadotropic hypogonadism, Elevated circulating phytanic acid concentration, Pigme... OMIM:614307
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism, Juvenile cataract OMIM:300055
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, H... ORPHA:90790
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Cholestasis, Hypergalactosemia, Decreased liver function ORPHA:570422
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Cataract, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... OMIM:616860
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc... ORPHA:457083
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom... OMIM:235200
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Fragile X Syndrome
Macroorchidism ORPHA:908
Laurence-Moon Syndrome
Hypoplasia of penis, Cataract, Renal insufficiency, Congenital hepatic fibrosis, Cryptorchidism, ... ORPHA:2377
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Increased circulating ferritin concentration, Elevated transferrin satura... OMIM:606069
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:214900
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria... OMIM:204000
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Galactokinase Deficiency
Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Hepatosp... ORPHA:79237
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal... ORPHA:1414
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a... OMIM:613490
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hypocal... OMIM:612526
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism ORPHA:1381
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia OMIM:602079
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... ORPHA:100024
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Elevated transferri... ORPHA:766
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... ORPHA:75234
Isolated Thyroid-Stimulating Hormone Deficiency
Thyroid hypoplasia, Pituitary hypothyroidism, Prolonged neonatal jaundice, Macroorchidism, Hyperc... ORPHA:90674
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia ORPHA:100025
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin... ORPHA:400
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Hypocholesterolemia, Anemia OMIM:610539
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Iris coloboma OMIM:618874
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Cardiomegaly ORPHA:324410
Chronic Granulomatous Disease
Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, M... ORPHA:379
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Corneal opacity, Splenomegaly, Lymphadenop... ORPHA:79292
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia ORPHA:1046
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Immunodeficiency 48
Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells OMIM:269840
Trisomy 20P
Hypospadias, Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Macroorchidism, Hyd... ORPHA:261318
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma ORPHA:363741
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Optic atrophy, H... ORPHA:791
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi... OMIM:214110
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... OMIM:300635
Caroli Disease
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomegaly, Portal... ORPHA:53035
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... OMIM:266200
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... ORPHA:90797
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... OMIM:306000
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Microcytic anemia, Elevated circulating alanine aminotransferase concentr... OMIM:618805
Wagr Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... ORPHA:893
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Se... ORPHA:3085
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia OMIM:261750
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Jaund... ORPHA:290
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Optic atrophy, Hyperammonemia,... ORPHA:79312
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Elevated circulating creatine kina... ORPHA:79095
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... OMIM:194072
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Cataract, Hypogonadism, Retinal coloboma OMIM:601794
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas... ORPHA:1655
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... OMIM:613027
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt... ORPHA:79477
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia ORPHA:664
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... OMIM:615631
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Anemia, Abnormality of iron homeostasis ORPHA:75563
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... ORPHA:254704
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... OMIM:235700
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Hypogonadism-Cataract Syndrome
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... OMIM:240950
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:264580
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Neuraminidase Deficiency
Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marro... OMIM:256550
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Malformation of the hepatic ductal plate,... OMIM:208540
Carney Complex
Hepatocellular carcinoma, Leydig cell neoplasia, Abnormal sperm motility, Ovarian serous cystaden... ORPHA:1359
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Hurler-Scheie Syndrome
Splenomegaly, Hepatomegaly, Corneal opacity, Abnormality of the tonsils ORPHA:93476
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Ambiguous genitalia, male, Male hypogonadi... ORPHA:90793
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Isolated Atp Synthase Deficiency
Hepatomegaly, Cataract, Optic atrophy, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic acidu... ORPHA:254913
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Hy... OMIM:235555
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ... ORPHA:2470
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... OMIM:251880
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Cataract, Central heterochromia, Testicu... ORPHA:744
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis... OMIM:615630
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalcemia, Splenomegaly, Cryptorchidism, Hypercalciuria, Developmental cataract... OMIM:618440
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Triploidy
Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the pancreas, Cryptorchi... ORPHA:3376
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis OMIM:240500
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Optic atro... OMIM:222300
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Sex reversal, Increased circulating renin level, Ambiguous genitalia, male, H... ORPHA:168558
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulati... OMIM:614376
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Zellweger Syndrome
Hepatomegaly, Posterior embryotoxon, Cataract, Corneal opacity, Hypospadias, Multicystic kidney d... ORPHA:912
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Sex reversal, Increased circulating renin level, Ambiguous genitalia, male, H... ORPHA:289548
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension OMIM:616589
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Joubert Syndrome 9
Cataract, Hepatic fibrosis, Astigmatism, Stage 5 chronic kidney disease OMIM:612285
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar... OMIM:146255
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Elevat... OMIM:610377
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Elevated circulating creati... OMIM:137920
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Portal hypertension, Unilateral r... OMIM:216360
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... OMIM:611881
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Spleni... OMIM:603903
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ... OMIM:611490
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Unconjugated... OMIM:300908
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Splenomegaly, Micronodular cirrhosis, Thrombocy... OMIM:606003
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ... ORPHA:79083
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:261534
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Cold Agglutinin Disease
Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism... OMIM:235255
Aspartylglucosaminuria
Hepatomegaly, Cataract, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia, Macroorchidism OMIM:208400
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Cataract, Testicular atrophy OMIM:160900
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnorm... ORPHA:2969
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... ORPHA:30391
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Primary amenorrhea, Aplasia of the vagina... OMIM:158330
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... OMIM:609981
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Splenomegaly, Mediastinal lympha... ORPHA:91138
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... OMIM:610199
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Multiple Sulfatase Deficiency
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic... ORPHA:585
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic sei... OMIM:146200
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Uterine leiomyoma, Cataract, Vaginal neoplasm ORPHA:523
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa... ORPHA:540
Central Precocious Puberty In Male
Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Renal cyst, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospa... OMIM:614866
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Elevated ... ORPHA:829
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:85414
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Cataract, Female hypogonadism, Premature ovarian in... OMIM:240300
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia OMIM:605309
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Aspartylglucosaminuria
Splenomegaly, Hepatomegaly, Aspartylglucosaminuria, Macroorchidism ORPHA:93
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ... ORPHA:2348
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... OMIM:277900
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Pancytopenia, Sp... OMIM:603553
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Jaundic... OMIM:251290
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreased testicular size OMIM:201100
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypertyrosinemia, Renal insuf... OMIM:276700
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Pancreatic fibros... ORPHA:564
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... ORPHA:251066
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism, Unilateral renal hypoplasia OMIM:619950
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... OMIM:120200
Warburg Micro Syndrome 2
Cataract, Small scrotum, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Hypo... OMIM:614225
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Hemolytic anemia, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ... OMIM:608885
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul... OMIM:232220
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Oligosacchariduria ORPHA:309288
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... OMIM:619151
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... ORPHA:83628
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia ORPHA:75233
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... ORPHA:824
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... OMIM:154230
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl... ORPHA:398124
Mcleod Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:300842
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Increased total bilirubin ORPHA:90037
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelp... ORPHA:2237
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... ORPHA:1454
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Cryptorchidism, Optic atrophy, Mic... ORPHA:3301
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Optic nerve hypoplasia, Cryptorchidism, Microcornea, Micro... OMIM:610125
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper... OMIM:239200
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... OMIM:249100
Cadds
Elevated hepatic transaminase, Cataract, Cholangitis, Cholestasis, Increased circulating very lon... ORPHA:369942
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... ORPHA:699
Papillorenal Syndrome
Retinal detachment, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence o... OMIM:120330
Scheie Syndrome
Splenomegaly, Hepatomegaly, Mucopolysacchariduria, Corneal opacity ORPHA:93474
Werner Syndrome
Cataract, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate aminotran... OMIM:277700
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinos... OMIM:617913
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol conce... OMIM:210250
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Cataract, Secondary amenorrhea, Renal cyst, Con... ORPHA:488618
Microphthalmia, Syndromic 9
Cryptorchidism, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uter... OMIM:601186
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Decreased circu... OMIM:300972
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Dysmenorrhea, Elevated cir... ORPHA:90796
Bardet-Biedl Syndrome 1
Decreased testicular size, Bone spicule pigmentation of the retina, Cataract, Biliary tract abnor... OMIM:209900
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno... ORPHA:822
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Vaginal at... OMIM:617914
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus, Anemia ORPHA:99927
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Macular atrophy, Microvesicular hepatic ste... OMIM:619418
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis... OMIM:269200
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618117
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... ORPHA:231214
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos... OMIM:618935
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorch... OMIM:614527
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic syst... ORPHA:464329
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Hematuria... ORPHA:77259
Meckel Syndrome 12
Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Hypoplasia of the uterus, Vaginal a... OMIM:616258
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... ORPHA:3109
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Stromme Syndrome
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic... OMIM:243605
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:602782
Pagod Syndrome
Multicystic kidney dysplasia, Abnormality of the spleen, Optic atrophy, Agonadism, Abnormality of... ORPHA:991
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:617690
Alagille Syndrome 1
Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Abnormal anterior chamb... OMIM:118450
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... OMIM:269700
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidi... OMIM:618280
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Multiple Sulfatase Deficiency
Hepatomegaly, Corneal opacity, Splenomegaly, Mucopolysacchariduria, Retinal degeneration OMIM:272200
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplas... ORPHA:171
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Decreased ... OMIM:608594
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Elevated circulating creat... OMIM:614643
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Satoyoshi Syndrome
Hypoplasia of the uterus, Mildly elevated creatine kinase, Amenorrhea OMIM:600705
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Renal salt wasting, Ambiguous genitalia, female, Abnormal ovarian physiology,... ORPHA:90794
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hypospadias, Increased mean platelet volume, Splenomegaly, Abnormality of the pancr... OMIM:222470
Lathosterolosis
Elevated hepatic transaminase, Cataract, Bilobate gallbladder, Increased mean platelet volume, Ac... OMIM:607330
Vaginal Atresia
Cervicitis, Vaginal hematocele, Abdominal mass, Pelvic mass, Transverse vaginal septum, Uterus di... ORPHA:65681
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation OMIM:618042
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Cataract, Abnormality of neutrophils, Splenomegaly, Throm... ORPHA:1775
Chops Syndrome
Cataract, Splenomegaly, Cryptorchidism, Optic atrophy, Horseshoe kidney, Vesicoureteral reflux OMIM:616368
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt... ORPHA:169090
Biotinidase Deficiency
Hepatomegaly, Splenomegaly, Optic atrophy, Hyperammonemia, Organic aciduria, Conjunctivitis OMIM:253260
Meckel Syndrome 14
Ambiguous genitalia, Hepatic fibrosis, Polycystic kidney dysplasia, Aplasia of the uterus OMIM:619879
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... ORPHA:158048
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia... OMIM:617591
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Oeis Complex
Hydroureter, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal... OMIM:258040
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... ORPHA:90033
Hereditary Fructose Intolerance
Hepatomegaly, Renal insufficiency, Cataract, Jaundice, Chronic kidney disease, Hypermagnesemia, H... ORPHA:469
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia OMIM:617466
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Pigmentary retinopathy,... OMIM:309801
Porphyria, Congenital Erythropoietic
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Red urine, Corneal scarring, Conjunctivit... OMIM:263700
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... ORPHA:178320
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Splenomegaly, Erythroid hypoplasia, Thrombocytopenia... OMIM:612541
Exstrophy-Epispadias Complex
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Cryptorchidis... ORPHA:322
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Cataract, Retinal atrophy, Renal ... ORPHA:90324
Syndromic Diarrhea
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Abnormality of the ... ORPHA:84064
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephroca... ORPHA:90041
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Phimosis, Thrombocytopenia, Cryptorc... OMIM:305000
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... ORPHA:30
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Thromboc... OMIM:222700
Mednik Syndrome
Cataract, Cholestasis, Hepatic fibrosis, Cirrhosis, Increased circulating very long-chain fatty a... OMIM:609313
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Cataract, Corneal opacity, Eosinophilia, Pancreatic cysts, Leukocytosis, Ho... OMIM:274000
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Urethral atresia... OMIM:273395
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea ORPHA:247768
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma OMIM:231005
Familial Mediterranean Fever
Acute hepatic failure, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephroc... ORPHA:342
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat... OMIM:619991
Meckel Syndrome, Type 1
Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Asplenia... OMIM:249000
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Thrombocytopenia, Horseshoe kidney ORPHA:3320
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ... OMIM:614083
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Nephrocalcinosis ORPHA:53715
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Hypo... OMIM:618419
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... ORPHA:284339
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ... ORPHA:77293
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Neph... ORPHA:29073
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, H... OMIM:241080
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Splenomegaly, Jaundice, Biliary cirrhosi... OMIM:613471
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Thro... OMIM:153670
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea, Polycystic ovaries OMIM:615363
Atelis Syndrome 2
Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia, Developmental cataract OMIM:620185
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Cardiom... ORPHA:116
Wolf-Hirschhorn Syndrome
Accessory spleen, Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Biliary tract ... OMIM:194190
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Micropenis, Hepatomegaly, Hypospad... OMIM:243800
Okamoto Syndrome
Urinary incontinence, Bifid uterus, Splenomegaly, Unilateral renal hypoplasia, Astigmatism, Urete... ORPHA:2729
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus ORPHA:457284
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Primary amenorrhea, Hypopl... ORPHA:785
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Microphthalmia, Syndromic 2
Retinal detachment, Hypospadias, Remnants of the hyaloid vascular system, Septate vagina, Cryptor... OMIM:300166
Digeorge Syndrome
Renal insufficiency, Parathyroid agenesis, Sclerocornea, Unilateral renal agenesis, Splenomegaly,... OMIM:188400
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Vaginal atresia OMIM:617088
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology... OMIM:236680
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Cataract, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchidis... ORPHA:93271
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Cataract, Hypospadias, Bilobate gallbladder, Cryp... OMIM:261540
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Fused labia majora, Bifid scrotum, Small scrotum, Hypospadias, Cryptorchidism, Vesi... OMIM:201750
Limb-Mammary Syndrome
Absent nipple, Chronic irritative conjunctivitis, Primary amenorrhea, Bilateral breast hypoplasia... ORPHA:69085
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... ORPHA:64
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Cataract, Corneal opacity, Hypospadias, Crypt... ORPHA:709
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse... OMIM:130050
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Astigmatism, Aplasia ... OMIM:135900
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie... OMIM:107480
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract ORPHA:637
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Neuroocular Syndrome
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... OMIM:619539
Neu-Laxova Syndrome 1
Cryptorchidism, Pterygium, Cataract, Bifid uterus OMIM:256520
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Vascular Ehlers-Danlos Syndrome
Keratoconus, Hypospadias, Cryptorchidism, Abnormal pupil morphology, Cystocele, Renovascular hype... ORPHA:286
Pallister-Killian Syndrome
Cataract, Hypospadias, Small scrotum, Supernumerary nipple, Cryptorchidism, Renal cyst, Hypoplast... OMIM:601803
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma, Anterior pituitary agenesis OMIM:157170
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030

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 Il9

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 Il9.

No publications found that use IMPC mice or data for Il9.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Il9em1(IMPC)Mbp Whole-gene deletion Mice, Tissue
Il9tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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