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Gene: Ndrg3 MGI:1352499

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Gene Summary

Name:
N-myc downstream regulated gene 3
Synonyms:
Ndr3,  4833415O14Rik

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 testis morphology Ndrg3em1(IMPC)Mbp HET Early adult 0.00
abnormal neural tube morphology Ndrg3em1(IMPC)Mbp HET E9.5 0.00
abnormal eye morphology Ndrg3em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Ndrg3em1(IMPC)Mbp HOM   Early adult 0.00
enlarged spleen Ndrg3em1(IMPC)Mbp HET Early adult 0.00
prenatal lethality prior to heart atrial septation Ndrg3em1(IMPC)Mbp HOM   E15.5 0.00
small testis Ndrg3em1(IMPC)Mbp HET Early adult 0.00
enlarged kidney Ndrg3em1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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 Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Ndrg3 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 Ndrg3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Male infertility, Gonadal tissue inappropriate for ... ORPHA:98798
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism, Renal agenesis OMIM:219050
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absence of pubertal development, Micropenis, Primary amenorrhea, C... OMIM:614840
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating growth hormone conc... ORPHA:90301
Nephronophthisis 16
Hepatic fibrosis, Nephronophthisis, Polycystic kidney dysplasia, Cholestasis, Renal insufficiency... OMIM:615382
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... OMIM:263200
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia OMIM:615703
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Aa Amyloidosis
Hepatomegaly, Adrenal insufficiency, Nephrotic syndrome, Acute kidney injury, Cholestasis, Hypoth... ORPHA:85445
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... ORPHA:261529
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... ORPHA:457083
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... OMIM:300200
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic cysts, Asplenia, Hepatic fibrosis, Bile duct proliferation, Hepatic cyst... OMIM:208540
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Reduced sperm motility, Pituitary growth hormone cell adenoma, Hepatic cysts, D... ORPHA:730
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... OMIM:615234
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Enlarged kidney OMIM:615415
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Young Syndrome
Azoospermia OMIM:279000
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... OMIM:616217
Bone Marrow Failure Syndrome 5
Testicular atrophy, Pure red cell aplasia, Anemia, Hypogonadism OMIM:618165
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly, Abnormal calcium-phosphate regulating hormone level, Abnormality of t... ORPHA:417
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphati... ORPHA:464329
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Splenomegaly, Recurrent urinary tract infections, Autoimmune hemol... OMIM:618495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
47,Xyy Syndrome
Oligospermia, Hypospadias, Increased serum testosterone level, Macroorchidism, Azoospermia, Incre... ORPHA:8
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Hemochromatosis, Type 2B
Secondary amenorrhea, Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Hypogonadism, Cirrhosis OMIM:613313
Amyloidosis, Familial Visceral
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria OMIM:105200
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
H Syndrome
Amenorrhea, Azoospermia, Lymphadenopathy, Abnormality of the kidney, Hypogonadism, Micropenis, He... ORPHA:168569
Endocrine-Cerebroosteodysplasia
Hypospadias, Sex reversal, Micropenis, Ambiguous genitalia, Adrenal hypoplasia, Hyperechogenic ki... OMIM:612651
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Leukopenia,... OMIM:617303
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:614480
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, Gonadobl... OMIM:130650
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Trimethylaminuria
Anemia, Trimethylaminuria, Neutropenia, Splenomegaly OMIM:602079
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hepatocellular carcinoma, Ascites, Hyp... OMIM:235200
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Abnormality of the lymphatic system, Nephroblastoma, Hydrocele testis... ORPHA:276280
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Tyrosinemia, Type I
Hepatomegaly, Renal Fanconi syndrome, Hepatocellular carcinoma, Ascites, Nephrocalcinosis, Glomer... OMIM:276700
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity, Cirrhosis, Pancytopenia, Thrombocytopenia OMIM:613987
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Hemochromatosis, Type 2A
Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, ... OMIM:602390
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Galactosemia Iii
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... OMIM:602668
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Renal hypoplasia/aplasia, ... ORPHA:1046
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... ORPHA:100024
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Diabete... OMIM:271500
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Ascites, Pancreatic fibrosis, Polysplenia... OMIM:200995
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Chronic kidney disease, Eosinophilia, Lymphadeniti... ORPHA:449395
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Hepatic calcification, Ureteral duplication, Hydronephrosis, Lipid accumulation in ... OMIM:608836
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Hepatocellular carcinoma, Decrease... OMIM:232220
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Decreased glomerular ... OMIM:232200
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Splenomegaly OMIM:608540
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Prote... ORPHA:251004
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Abnormal liver lobulation, Enlarge... OMIM:608022
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Increased hepatic glycogen content, Tubulointerstitial fibrosis, Menorrhagia, Nephrocalcinosis, H... ORPHA:79259
Normosmic Congenital Hypogonadotropic Hypogonadism
Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absence of pubertal development... ORPHA:432
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... ORPHA:786
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage OMIM:278760
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Hypogonadism, Decreased testicular size, Decreased serum testosterone... OMIM:201100
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Elevated hepatic iron concentration, Erythr... OMIM:616860
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Spontaneous abortion,... ORPHA:2133
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Abnormal hemoglobin, Cholelithiasis, Anem... ORPHA:848
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly, Primary amenorrhea, Diabetes m... OMIM:612526
Wolfram Syndrome 1
Testicular atrophy, Hydronephrosis, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemi... OMIM:222300
Beckwith-Wiedemann Syndrome
Congenital megaureter, Splenomegaly, Nephropathy, Hypercalciuria, Nephroblastoma, Polycythemia, E... ORPHA:116
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormal... ORPHA:79301
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Meacham Syndrome
Horseshoe kidney, Accessory spleen, Bicornuate uterus, Septate vagina, Blind vagina, Male pseudoh... OMIM:608978
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... OMIM:617514
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heavy proteinuria, Leukopenia, Nephrotic syndrome, Anemia, Bone marrow hypocellularity, Hepatospl... ORPHA:505248
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Cholangiocarcinoma, Amenorrhea, Hepatocellular car... ORPHA:465508
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Increased urinary porphobilin... OMIM:618892
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Decreased circulating osteocalcin level, Infertility, Re... ORPHA:330015
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Hepatomegaly, Splenomegaly ORPHA:2204
Alg9-Cdg
Hepatomegaly, Hydronephrosis, Hypoplastic nipples, Abnormal renal artery morphology, Hepatic cyst... ORPHA:79328
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Intrahepatic cho... OMIM:602347
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly OMIM:618107
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:616719
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:182900
Leprechaunism
Central hypothyroidism, Hepatomegaly, Long penis, Nephrocalcinosis, Enlarged ovaries, Labial hype... ORPHA:508
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Nephroblastoma, Hepatocellular carcinoma, Abnormal ren... ORPHA:158057
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly ORPHA:172
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice OMIM:619658
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Adrenal calcification, Jaundice ORPHA:75234
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice OMIM:214900
Beta-Thalassemia Intermedia
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestatic liver disease, Hepatosplenomegaly, Prolonged n... OMIM:616828
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... OMIM:616278
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of urine homeostasis, Abnorm... ORPHA:1414
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Fanconi Anemia, Complementation Group A
Cryptorchidism, Male infertility, Deficient excision of UV-induced pyrimidine dimers in DNA, Hype... OMIM:227650
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Absent testis, Increased circulating gonadotropin level... ORPHA:325124
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Immunodeficiency 54
Hepatomegaly, Adrenal insufficiency, Lymphadenopathy, Splenomegaly, Reduced natural killer cell c... OMIM:609981
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Immunodeficiency 32B
Splenomegaly OMIM:226990
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Priapism, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Incr... OMIM:603903
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Biliary cirrhosis, Portal hypertension, Scler... OMIM:617394
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hemoglobinuria, Hepatitis, Cholelithi... OMIM:194380
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hypogonadism, Abnormal testis morphology, Primary testicular failure, Male infertility ORPHA:85450
Gapo Syndrome
Oligospermia, Dysmenorrhea, Hypogonadism, Amenorrhea ORPHA:2067
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... OMIM:615122
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage, Gonadal hypoplasia OMIM:278800
Wolman Disease
Hepatomegaly, Adrenal insufficiency, Ascites, Anemia, Bone-marrow foam cells, Splenomegaly, Adren... ORPHA:75233
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly ORPHA:37748
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Intrahepatic biliary dysgenesis, Renal cyst, Splenomegaly, Clitoral hypertrophy, He... OMIM:614866
Fanconi Anemia, Complementation Group E
Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hypo... OMIM:600901
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Increased circulating progesterone, Adrenal hyperplasia, Fused labia m... ORPHA:95699
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... OMIM:308240
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, Ascites, Splenomegaly, Abnormality of t... ORPHA:1655
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia, Renal insufficiency ORPHA:79312
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Renal malrotation, Bifid ureter, Multicystic kidney dysplasia, Transient neu... ORPHA:500095
Neuraminidase Deficiency
Hepatomegaly, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomegaly, Urinary excr... OMIM:256550
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Hydronephrosis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Ane... OMIM:612541
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Adrenal insufficiency, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia... OMIM:278000
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Splenomegaly, Abnormality of the liver, Glo... ORPHA:91138
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosis OMIM:613027
Primary Myelofibrosis
Leukocytosis, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Splenomegaly, Intermitte... OMIM:150550
Pparg-Related Familial Partial Lipodystrophy
Secondary amenorrhea, Hepatomegaly, Maternal diabetes, Dysmenorrhea, Oligomenorrhea, Insulin-resi... ORPHA:79083
Coach Syndrome 1
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Multiple small medullary renal cysts, Renal cys... OMIM:216360
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Familial Partial Lipodystrophy, Dunnigan Type
Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Splenomegaly,... ORPHA:2348
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Omenn Syndrome
Leukocytosis, Hepatomegaly, Nephrotic syndrome, Lymphadenopathy, Abnormal lymphocyte morphology, ... ORPHA:39041
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:507
Fanconi Anemia, Complementation Group C
Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hypo... OMIM:227645
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Oligomenorrhea, Portal fibrosis, Hepatic fibrosis, Hep... ORPHA:370
Transaldolase Deficiency
Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Splenomegaly, Clitoral hypertroph... OMIM:606003
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria OMIM:300322
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hepatomegaly, Hydronephrosis, Right ventricular hypertrophy, Renal cyst, Hepatoblast... OMIM:312870
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice OMIM:613812
Oculoskeletodental Syndrome
Hepatomegaly, Mucopolysacchariduria, Renal agenesis, Splenomegaly, Hypothyroidism, Cryptorchidism... OMIM:618440
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... OMIM:601847
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired ox... OMIM:618935
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Pancreatic cysts, Congenital hypothyroidism, Hepatic fibrosi... OMIM:610199
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Griscelli Syndrome
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... ORPHA:381
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Breast hypoplasia, Clitoral hypoplasia, Diabetes mellitus OMIM:614813
Carney Complex
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... ORPHA:1359
Caroli Disease
Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... ORPHA:53035
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, Ascites, Splenomegaly, Thyroid lymphang... OMIM:235255
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... OMIM:612714
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Hepatitis, Anemia, Acute hepatitis, Splenomegal... ORPHA:905
Dominant Beta-Thalassemia
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Diabetes mellitus, Decrea... ORPHA:231226
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Annular pancreas, Micropenis, Hypergon... OMIM:227646
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Oligomenorrhea, Portal fibrosis, Hepatic fibrosis, Ren... ORPHA:264580
8P11.2 Deletion Syndrome
Hemolytic anemia, Azoospermia, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pit... ORPHA:251066
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... OMIM:305400
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... OMIM:613011
Beta-Thalassemia Major
Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Diab... ORPHA:231214
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Ascites, Depletion of mitochond... OMIM:251880
Primary Lipodystrophy
Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia, Pancreatitis, Splenomegaly, Cirr... ORPHA:90970
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Ani... OMIM:300908
Autoimmune Hemolytic Anemia
Hemolytic anemia, Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Jaundice, Poikilocytos... ORPHA:288
Gaucher Disease Type 1
Hepatomegaly, Ascites, Leukopenia, Biliary tract obstruction, Hematuria, Anemia, Splenomegaly, Ci... ORPHA:77259
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Oligomenorrhea, Hepatic fibrosis, Hepatocellular carci... ORPHA:79240
Trichothiodystrophy
Cryptorchidism, Gonadal dysgenesis, Defective DNA repair after ultraviolet radiation damage ORPHA:33364
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Hepatomegaly, Hyperphosphaturia, Aminoaciduria, A... OMIM:239200
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Menorrhagia, Increased mean platelet volume, Stomatocytosis, Splenomegaly, Hemolytic anemia OMIM:153670
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:235555
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Cholecystitis, Portal hypertension, ... ORPHA:131
Bloom Syndrome
Oligospermia, Azoospermia, Male infertility, Diabetes mellitus, Premature ovarian insufficiency ORPHA:125
Autoimmune Hepatitis
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Acute hepatitis, Splenomegaly, Diffuse he... ORPHA:2137
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Intrahepatic cholest... OMIM:607765
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... OMIM:616100
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... ORPHA:100026
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Thrombocytopenia, Sclerosing cholangitis, Hepatitis, Splenomegaly, Cir... OMIM:308230
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Hereditary Orotic Aciduria
Abnormality of the ureter, Oroticaciduria, Anemia, Orotic acid crystalluria, Splenomegaly, Aminoa... ORPHA:30
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Extramedullary hematopoiesis, Increased mean ... ORPHA:822
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Ja... ORPHA:90033
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:619183
Familial Mediterranean Fever
Leukocytosis, Hepatomegaly, Nephrotic syndrome, Peritonitis, Stage 5 chronic kidney disease, Sple... OMIM:249100
Gray Platelet Syndrome
Thrombocytopenia, Menorrhagia, Abnormal number of alpha granules, Splenomegaly OMIM:139090
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Jaundice OMIM:618641
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly OMIM:616005
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Triosephosphate Isomerase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... OMIM:615512
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Hepatomegaly, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasi... OMIM:102700
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Atretic gallbladder, Bile duct proliferation, Dark yellow urine, Sp... ORPHA:30391
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pancreatic hypoplasia, Azoospermia, Lymphadenopathy, Retroperitoneal fibrosis, Card... OMIM:602782
Gaucher Disease, Type I
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia OMIM:230800
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cel... ORPHA:3261
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertro... OMIM:269700
Familial Mediterranean Fever
Ascites, Peritonitis, Lymphadenopathy, Nephrotic syndrome, Nephrocalcinosis, Pancreatitis, Spleno... ORPHA:342
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... OMIM:210250
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertro... OMIM:608594
Meckel Syndrome, Type 1
Abnormality of the ureter, Malformation of the hepatic ductal plate, Renal agenesis, Asplenia, Bi... OMIM:249000
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... ORPHA:567983
Cystinosis, Nephropathic
Hepatomegaly, Renal Fanconi syndrome, Generalized aminoaciduria, Nephrolithiasis, Glycosuria, Spl... OMIM:219800
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Nephrocalcinosis, Sideroblastic... OMIM:616084
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Pearson Syndrome
Adrenal insufficiency, Neutropenia, Lacticaciduria, Splenomegaly, Diabetes mellitus, Pancytopenia... ORPHA:699
Syndromic Diarrhea
Hepatomegaly, Thrombocytosis, Increased mean platelet volume, Renal hypoplasia, Hepatic fibrosis,... ORPHA:84064
Hardikar Syndrome
Cholangitis, Decreased serum insulin-like growth factor 1, Intrahepatic bile duct cysts, Splenome... OMIM:301068
Familial Tumoral Calcinosis
Hepatomegaly, Nephrocalcinosis, Splenomegaly ORPHA:53715
Primary Sclerosing Cholangitis
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... ORPHA:171
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Testicular atrophy, Abnormality of the Leydig cells, Ectopic kidney, Cryptorchidism ORPHA:3063
Hyper-Igd Syndrome
Leukocytosis, Lymphadenopathy, Lymphadenitis, Splenomegaly, Neutrophilia, Hepatosplenomegaly, Ren... OMIM:260920
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia/aplasia, Splenomegaly OMIM:612918
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Splenomegaly, Absent natural killer cells, Hepatosplenomegaly, Lymphocytosis, Pa... ORPHA:2442
Lymphatic Malformation 6
Ascites, Splenomegaly, Intestinal lymphangiectasia, Hypothyroidism, Hydrocele testis OMIM:616843
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... OMIM:233710
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horseshoe kidney, Hepatomegaly, Splenomegaly, Vaginal atresia, Hydrometrocolpos OMIM:617088
Gaucher Disease, Type Iiic
Pancytopenia, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:231005
Tetrasomy 9P
Oligospermia, Infertility, Absent gallbladder, Micropenis, Cryptorchidism ORPHA:3310
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... OMIM:233690
Multiple Myeloma
Nephrotic syndrome, Lymphadenopathy, Anemia, Splenomegaly, Acute kidney injury, Nephropathy, Abno... ORPHA:29073
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath... ORPHA:273
Alström Syndrome
Oligospermia, Hyoplasia of the Leydig cells, Precocious puberty in females, Type II diabetes mell... ORPHA:64

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 Ndrg3

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 Ndrg3.

No publications found that use IMPC mice or data for Ndrg3.

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MGI Allele Allele Type Produced
Ndrg3tm35448(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ndrg3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ndrg3tm356715(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ndrg3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ndrg3em1(IMPC)Mbp Exon Deletion Mice, Tissue

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