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Gene: Drgx MGI:2148204

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Gene Summary

Name:
dorsal root ganglia homeobox
Synonyms:
Prrxl1,  Drg11

Order Alleles

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
enlarged spleen Drgxem1(IMPC)Mbp HET Late adult 0.00
abnormal kidney morphology Drgxem1(IMPC)Mbp HET Late adult 0.00
preweaning lethality, complete penetrance Drgxem1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Drgxem1(IMPC)Mbp HET Late adult 0.00
enlarged lymph nodes Drgxem1(IMPC)Mbp HET Late adult 0.00
preweaning lethality, incomplete penetrance Drgxem1(IMPC)Mbp HOM   Early adult 0.00
abnormal lymph node morphology Drgxem1(IMPC)Mbp HET Late adult 0.00
abnormal testis morphology Drgxem1(IMPC)Mbp HET Late adult 0.00
abnormal adrenal gland morphology Drgxem1(IMPC)Mbp HET Late adult 0.00
small kidney Drgxem1(IMPC)Mbp HET Late adult 0.00
abnormal liver morphology Drgxem1(IMPC)Mbp HET Late adult 0.00
embryonic growth retardation Drgxem1(IMPC)Mbp HOM E15.5 0.00
abnormal spleen morphology Drgxem1(IMPC)Mbp HET Late adult 0.00
enlarged testis Drgxem1(IMPC)Mbp HET Late adult 0.00
abnormal uterus morphology Drgxem1(IMPC)Mbp HET Late adult 0.00
abnormal heart morphology Drgxem1(IMPC)Mbp HET Late adult 0.00
abnormal seminal vesicle morphology Drgxem1(IMPC)Mbp HET Late adult 0.00
abnormal vitreous body morphology Drgxem1(IMPC)Mbp HET   Late adult 5.46×10-05
abnormal skin morphology Drgxem1(IMPC)Mbp HET Late adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

32 Images

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X-ray

XRay Images Whole Body Dorso Ventral

57 Images

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X-ray

XRay Images Whole Body Dorso Ventral

60 Images

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Gross Morphology Embryo E9.5

Images

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

19 Images

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Gross Morphology Embryo E14.5-E15.5

Images

10 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Drgx 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 Drgx by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Intrauterine growth retardation, Short stature OMIM:135950
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Megalencephaly
Macroorchidism, Atrial septal defect, Long penis ORPHA:2477
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Ovarian cyst, Renal tubu... ORPHA:562
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse OMIM:300624
Polyembryoma
Abnormal peritoneum morphology, Abdominal mass, Abnormal circulating gonadotropin concentration, ... ORPHA:180229
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Ethanolaminosis
Cardiomegaly OMIM:227150
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... OMIM:235200
Partington Syndrome
Macroorchidism ORPHA:94083
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Cardiomyopathy, ... OMIM:613313
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201710
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Azoospermia, C... OMIM:602390
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Fragile X Syndrome
Macroorchidism, Mitral valve prolapse ORPHA:908
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... ORPHA:324410
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Male ... ORPHA:90790
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, T... ORPHA:858
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ... ORPHA:90791
Lujan-Fryns Syndrome
Macroorchidism, Atrial septal defect ORPHA:776
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... ORPHA:100024
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph... ORPHA:417
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Kerion Celsi
Lymphadenopathy ORPHA:499
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormal... ORPHA:54251
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... ORPHA:319487
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom... OMIM:620010
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... ORPHA:97290
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hypogonadism, Cardiomyopathy, Hepatomegaly OMIM:608540
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Increased serum seroto... ORPHA:100083
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... OMIM:603552
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic... OMIM:609981
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly ORPHA:79238
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia OMIM:602079
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin... ORPHA:400
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Noc... ORPHA:85450
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Ascites OMIM:269920
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia ORPHA:1046
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... OMIM:271500
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Carney Complex
Pituitary growth hormone cell adenoma, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cel... ORPHA:1359
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Splenic infarcti... OMIM:603903
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Mitral valve prolapse OMIM:618874
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:618261
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Cardiac-Urogenital Syndrome
Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe... OMIM:618280
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate aminotransferase concen... OMIM:610198
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren... ORPHA:369929
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperp... ORPHA:96181
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology ORPHA:33111
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Cholesteryl Ester Storage Disease
Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure ORPHA:75234
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Meacham Syndrome
Atrial septal defect, Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect... ORPHA:3097
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy OMIM:618982
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Atrial septal defect, Ventricular septal defect OMIM:309520
Trisomy 20P
Hypospadias, Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Macroorchidism, Hyd... ORPHA:261318
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pi... ORPHA:97289
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc... OMIM:614034
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:602782
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Cryptorchidism, Leukocytosis, Acute leukemia, Ly... ORPHA:99812
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Cholesteryl Ester Storage Disease
Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi... OMIM:278000
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... OMIM:252920
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Cold Agglutinin Disease
Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology ORPHA:85447
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly ORPHA:172
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Sp... ORPHA:158057
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic st... OMIM:612526
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... OMIM:214900
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig... ORPHA:168558
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular... OMIM:236680
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,... OMIM:616589
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Splenomegaly, Micron... OMIM:606003
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt... ORPHA:1332
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Urethral atresia, Adrenal ... OMIM:273395
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Optic atrophy, Anemia, Cardiomyopathy, Neutropen... ORPHA:79312
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Hypospadias, Ovotestis, Sex reversal, Adrenal gland agenesis OMIM:611812
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Reticulocytosis OMIM:179700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:603909
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Roifman Syndrome
Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Lymphadenopathy, Hepat... ORPHA:353298
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... OMIM:219080
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia ORPHA:397596
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Microphthalmia, Syndromic 9
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu... OMIM:601186
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Micropenis, Decreased te... ORPHA:335
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... OMIM:619644
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:212140
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat... OMIM:615630
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly OMIM:618107
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis... ORPHA:1655
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... ORPHA:615
Amed Syndrome, Digenic
Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone ma... OMIM:619151
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... OMIM:613812
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat... ORPHA:1333
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Wolman Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,... ORPHA:75233
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
Niemann-Pick Disease, Type A
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... OMIM:257200
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, Nephrotic s... ORPHA:39041
Roifman Syndrome
Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Splenomegaly... OMIM:616651
Mogs-Cdg
Hepatomegaly, Atrial septal defect, External genital hypoplasia, Inappropriate antidiuretic hormo... ORPHA:79330
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Ventricular septal defect, Splenomegaly, Jaund... ORPHA:290
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ... ORPHA:2470
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy ORPHA:85414
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant... ORPHA:79083
Cinca Syndrome
Papilledema, Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... OMIM:615830
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Cardiomegaly ORPHA:88643
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... ORPHA:64743
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy... OMIM:618886
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cardiomegaly, Cryptorc... OMIM:130650
Thyroid Lymphoma
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... ORPHA:824
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Spl... ORPHA:264580
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Central Precocious Puberty In Male
Abnormal response to gonadotropin-releasing hormone stimulation test, Pituitary microadenoma, Abn... ORPHA:649929
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Pericardial constriction... OMIM:253250
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hy... ORPHA:2035
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thy... ORPHA:744
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... OMIM:600649
Rhabdoid Tumor
Lymphadenopathy, Hematuria, Neoplasm of the liver, Anemia, Thrombocytopenia ORPHA:69077
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Anemia ORPHA:75563
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... ORPHA:276
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad... OMIM:618935
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Ascites, Lymphadenopathy ORPHA:26790
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... OMIM:255120
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar... OMIM:146255
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Legionnaires Disease
Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E... ORPHA:549
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ova... ORPHA:2348
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb... ORPHA:158061
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy... ORPHA:98850
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Spl... ORPHA:398124
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... OMIM:158330
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Dilated c... OMIM:615895
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly OMIM:619064
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... ORPHA:251066
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... ORPHA:829
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... OMIM:300280
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Septate vagina, Unilateral renal agen... ORPHA:2237
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Portal hypertension, Unilateral r... OMIM:216360
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial effu... ORPHA:36412
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediast... ORPHA:160
Poems Syndrome
Papilledema, Diabetes mellitus, Pericardial effusion, Hypothyroidism, Abnormality of the endocrin... ORPHA:2905
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hepatic failure ORPHA:664
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy ORPHA:3386
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... OMIM:235255
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
H Syndrome
Diabetes mellitus, Microcytic anemia, Amenorrhea, Lymphadenopathy, Hepatosplenomegaly, Azoospermi... ORPHA:168569
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center OMIM:608184
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia OMIM:605309
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... ORPHA:277
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... ORPHA:79124
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Pericardi... ORPHA:77259
Pagod Syndrome
Multicystic kidney dysplasia, Situs inversus totalis, Abnormality of the spleen, Optic atrophy, A... ORPHA:991
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ... OMIM:611490
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Aspartylglucosaminuria
Macroorchidism, Splenomegaly, Aspartylglucosaminuria, Hepatomegaly ORPHA:93
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Cor pulmonale, Lymph node hypoplas... OMIM:300755
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Hepatocellular... OMIM:201475
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... ORPHA:42
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventricular septal defect, Macular atrophy, Splenomegaly, Microve... OMIM:619418
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... ORPHA:30391
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... ORPHA:1451
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hypothyroidism, Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... ORPHA:3392
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites ORPHA:2414
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Scrub Typhus
Myocarditis, Splenomegaly, Renal insufficiency, Lymphadenopathy ORPHA:83317
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventri... OMIM:614921
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Mediastinal lympha... ORPHA:91138
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadeno... ORPHA:540
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic syst... ORPHA:464329
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah... OMIM:607765
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy ORPHA:142
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Felty Syndrome
Hepatomegaly, Pericarditis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocell... ORPHA:47612
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... ORPHA:79456
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy, Ascites OMIM:614702
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... ORPHA:90794
Nephroblastoma
Hematuria, Neoplasm of the liver, Lymphadenopathy ORPHA:654
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph... OMIM:304790
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... ORPHA:781
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... OMIM:613179
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ... ORPHA:79240
Boutonneuse Fever
Elevated hepatic transaminase, Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Le... ORPHA:83313
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Eosinophilia, Myocardi... ORPHA:139402
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Sandhoff Disease
Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Impotence OMIM:268800
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas... OMIM:269700
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadeno... ORPHA:342
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Ventricular septal defect, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, As... OMIM:616897
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Hypogonadism, Decreased serum testosterone concentration, Decreased t... OMIM:201100
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:306000
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism, Unilateral renal hypoplasia OMIM:619950
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased ser... OMIM:608594
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... OMIM:235555
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly... ORPHA:2137
Oculoskeletodental Syndrome
Hepatomegaly, Cryptorchidism, Splenomegaly, Hypercalciuria, Mucopolysacchariduria, Hypothyroidism OMIM:618440
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... ORPHA:169154
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Le... OMIM:617713
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Renal hypoplasia, Bicornuat... OMIM:137920
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Optic disc pallor, Fluctuating sple... OMIM:610377
Trigeminal Neuralgia
Cranial nerve compression, Allodynia ORPHA:221091
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... ORPHA:97287
Carcinoid Syndrome
Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Hepatic necrosis, Pulmonary... ORPHA:100093
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Elevated ci... OMIM:610199
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocardi... ORPHA:809
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... OMIM:301068
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Papa Syndrome
Type I diabetes mellitus, Proteinuria, Lymphadenopathy ORPHA:69126
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Aortic valve st... OMIM:230800
Refsum Disease, Classic
Cardiomyopathy, Abnormal renal physiology, Retinal degeneration, Cardiomegaly OMIM:266500
Hydatidiform Mole
Hyperthyroidism, Menometrorrhagia, Enlarged uterus, Anemia ORPHA:99927
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Elevated ... OMIM:608836
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... ORPHA:83628
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... ORPHA:822
Middle Ear Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor ORPHA:100084
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Sple... OMIM:612541
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Pulmonic sten... OMIM:616028
Hsd10 Disease, Infantile Type
Cardiomegaly, Optic atrophy, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine... ORPHA:391428
Syndromic Diarrhea
Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m... ORPHA:84064
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm... ORPHA:100080
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Elevated c... OMIM:614866
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polyc... ORPHA:2969
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyr... ORPHA:449432
Lymphangioleiomyomatosis
Abnormal urinary color, Abnormality of the lymphatic system, Optic atrophy, Abnormal morphology o... ORPHA:538
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ... ORPHA:228308
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Hypothyro... ORPHA:116
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Fucosidosis
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Hypothyroidism ORPHA:349
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Igg4-Related Kidney Disease
Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Cholecystitis, Abnormal ureter morph... ORPHA:449395
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepa... OMIM:260920
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia, Macroorchidism OMIM:208400
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... ORPHA:1454
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... OMIM:614700
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundi... OMIM:603553
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul... OMIM:232220
Chops Syndrome
Ventricular septal defect, Splenomegaly, Cryptorchidism, Optic atrophy, Anomalous pulmonary venou... OMIM:616368
Brucellosis
Hepatomegaly, Pericarditis, Liver abscess, Glomerulonephritis, Hypersplenism, Splenomegaly, Leuko... ORPHA:1304
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Cyclic Neutropenia
Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy... ORPHA:2686
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical ... ORPHA:50918
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... OMIM:611881
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Increased T cell count, Absent peripheral lymph nodes in presence of infection, ... ORPHA:98813
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Anemia, Cardiomegaly OMIM:618838
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy, Abnormal myocar... ORPHA:32960
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... ORPHA:3261
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro... OMIM:619991
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Pediatric Systemic Lupus Erythematosus
Dark urine, Lymphopenia, Renal insufficiency, Proteinuria, Pericardial effusion, Lymphadenopathy,... ORPHA:93552
Exstrophy-Epispadias Complex
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Cryptorchidis... ORPHA:322
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Tetralogy of Fallot, Hypothyroidism OMIM:601005
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu... OMIM:615688
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Abnormal cardiac septum morphology, Aplasia of the uterus, Tetralogy of Fallot,... ORPHA:3320
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Central hypothyroidis... ORPHA:514
Attrv122I Amyloidosis
Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res... ORPHA:85451
Carney Triad
Mediastinal lymphadenopathy, Adrenal overactivity, Lymphadenopathy, Pheochromocytoma, Adrenocorti... ORPHA:139411
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... OMIM:239200
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome... OMIM:276700
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hepatic failure, ... OMIM:608013
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... OMIM:267700
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Meckel Syndrome 14
Hepatic fibrosis, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Single... OMIM:619879
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glyco... OMIM:619259
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Malakoplakia
Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Follicular hyperplasia, Urina... ORPHA:556
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lym... OMIM:617591
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... ORPHA:96191
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... OMIM:618048
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag... OMIM:249100
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... ORPHA:57777
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm... ORPHA:100082
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color ORPHA:90037
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Vaginal at... OMIM:617914
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorch... OMIM:614527
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... OMIM:214500
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly OMIM:617022
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, R... ORPHA:33226
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia,... ORPHA:333
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Iro... ORPHA:100078
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
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopeni... ORPHA:520
Coccidioidomycosis
Abnormal sperm morphology, Pericarditis, Renal insufficiency, Eosinophilia, Abnormality of the en... ORPHA:228123
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... ORPHA:171
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Crimean-Congo Hemorrhagic Fever
Leukopenia, Cholecystitis, Hepatomegaly, Neutrophilia, Pericardial effusion, Leukocytosis, Epidid... ORPHA:99827
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Cervical neoplasm, Elevated urinary catecholamine level, Thyroid ... ORPHA:653
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... ORPHA:90033
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Splenomegaly, Jaundice... OMIM:615512
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hypospadias, Ventricular septal defect, Increased mean platelet volume, Abnormality... OMIM:222470
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Wilson Disease
Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Hemoly... OMIM:277900
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Lymphadenopathy ORPHA:343
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Optic atrophy, Congenital... ORPHA:79500
Oeis Complex
Hydroureter, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal... OMIM:258040
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatomegaly, Elevated hepatic transaminase, Elevated circul... OMIM:300972
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadeno... ORPHA:100079
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Hyperthyroidism, Autoimmune thrombocy... ORPHA:37042
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cho... ORPHA:293173
Glycogen Storage Disease Ii
Hepatomegaly, Splenomegaly, Urinary incontinence, Cardiomegaly OMIM:232300
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Sarcoidosis
Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hypothyroidis... ORPHA:797
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph... ORPHA:1572
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm... ORPHA:100075
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Hepatomegaly, Cardiomegaly OMIM:618143
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Abnormality of neutrophils, Splenomega... ORPHA:1775
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... ORPHA:3109
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology, Allodynia ORPHA:137596
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu... ORPHA:77261
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis OMIM:142680
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid... OMIM:230000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... OMIM:102700
Lymphatic Malformation 6
Splenomegaly, Hydrocele testis, Atrial septal defect, Intestinal lymphangiectasia, Ascites, Hypot... OMIM:616843
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Elevated hepatic transaminase, Pancytopenia, Abnormality of retina... ORPHA:167
Graft Versus Host Disease
Elevated hepatic transaminase, Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, ... ORPHA:39812
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... OMIM:616084
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly OMIM:614473
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Heparan sulfate excretion in urine, Recurr... ORPHA:581
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... ORPHA:30
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Ventricular septal defect, Eosinophilia, Pancreatic cysts, Leukocytosis, Ve... OMIM:274000
Okamoto Syndrome
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Bifid uterus... ORPHA:2729
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... ORPHA:247768
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Hypo... OMIM:618419
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Meckel Syndrome 12
Hypoplasia of the uterus, Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia OMIM:616258
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th... ORPHA:83471
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Impotence, Urinary incontinence, Cardiomegaly OMIM:105210
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy ORPHA:379
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Renal cyst, Polycystic ovaries ORPHA:137675
Meckel Syndrome, Type 1
Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Adrenal ... OMIM:249000
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Menorrhagia, Abnormal number of alpha granules OMIM:139090
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ... OMIM:614083
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Acute Interstitial Pneumonia
Pericardial effusion, Reduced hematocrit, Lymphadenopathy ORPHA:79126
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mitral valve prolapse, Hila... OMIM:620233
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... ORPHA:3464
Benign Schwannoma
Facial palsy, Abnormality of the twelfth cranial nerve, Vestibular schwannoma, Abnormality of per... ORPHA:252164
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Oligosac... ORPHA:308552
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia OMIM:617466
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer ORPHA:79140
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... ORPHA:31150
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomeg... ORPHA:51
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Behçet Disease
Pericarditis, Renal insufficiency, Orchitis, Splenomegaly, Endocarditis, Lymphadenopathy, Abnorma... ORPHA:117
Hennekam Syndrome
Lymphopenia, Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Hors... ORPHA:2136
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Hypoplasia of the uterus, Pi... OMIM:309801
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... OMIM:300855
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Igg4-Related Ophthalmic Disease
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Orchitis, Abnormality of the anterior pituit... ORPHA:449563
Microphthalmia, Syndromic 2
Retinal detachment, Hypospadias, Ventricular septal defect, Septate vagina, Dextrocardia, Remnant... OMIM:300166
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... ORPHA:284339
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Cardiomegaly ORPHA:2463
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... OMIM:619573
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Abnormality of retinal pigmentation... ORPHA:14
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, ... OMIM:181000
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Multiple Myeloma
Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Nephropathy, Acute kidney injury, Anemia ORPHA:29073
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenome... OMIM:256040
Johanson-Blizzard Syndrome
Hepatic fibrosis, Atrial septal defect, Micropenis, Hypothyroidism, Hepatomegaly, Hypospadias, El... OMIM:243800
Bohring-Opitz Syndrome
Retinal atrophy, Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology, Urinary retenti... ORPHA:97297
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Familial Tumoral Calcinosis
Nephrocalcinosis, Splenomegaly, Hepatomegaly ORPHA:53715
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of ... ORPHA:79078
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Pancytopenia, Mitral valve calcification, Splenomegaly, Abnormality of the spleen, T... ORPHA:2072
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Male ... OMIM:219800
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Va... OMIM:617088
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased serum insulin-like growth factor 1, Abnormal heart valve morphology, Auto... ORPHA:77293
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophil... ORPHA:3260
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Thro... OMIM:153670
Trichotillomania
Hair-pulling OMIM:613229
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Pericardial effusion, ... OMIM:615846
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte mor... ORPHA:565612
Primary Sjögren Syndrome
Normocytic anemia, Vaginal dryness, Chronic active hepatitis, Parotitis, Renal insufficiency, Glo... ORPHA:289390
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent... OMIM:620185
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Enl... OMIM:252500
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Digeorge Syndrome
Renal insufficiency, Parathyroid agenesis, Ventricular septal defect, Unilateral renal agenesis, ... OMIM:188400
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Leukocytosis, Cervical l... ORPHA:2331
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Hypoth... OMIM:607944
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy OMIM:617099
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Optic nerve com... ORPHA:667
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine, Th... OMIM:263700
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
African Trypanosomiasis
Hepatomegaly, Pericarditis, Papilledema, Renal insufficiency, Urinary incontinence, Abnormality o... ORPHA:3385
Wolf-Hirschhorn Syndrome
Accessory spleen, Hypospadias, Ventricular septal defect, Precocious puberty, Cryptorchidism, Bil... OMIM:194190
Coloboma, Ocular, Autosomal Dominant
Vesicoureteral reflux, Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular... OMIM:120200
Blau Syndrome
Pericarditis, Splenomegaly, Stage 5 chronic kidney disease, Lymphadenopathy, Abnormality of the l... ORPHA:90340
Malt Lymphoma
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Ventricular sept... OMIM:107480
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Lymphopenia, Reticulocytosis, Pericarditis, Renal insufficiency, O... ORPHA:99826
Leptospirosis
Hepatomegaly, Pericarditis, Papilledema, Cellular urinary casts, Jaundice, Hepatitis, Retinal hem... ORPHA:509
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Left ventricula... OMIM:245600
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... ORPHA:331235
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... OMIM:619534
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
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
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly OMIM:208000
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Nephrocalcinosis, Vesicoureteral reflux... ORPHA:904
Cherubism
Macular scar, Optic neuropathy, Submandibular lymph node enlargement OMIM:118400
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... ORPHA:1677
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly OMIM:615947
Yunis-Varon Syndrome
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ... ORPHA:3472
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Ectodermal Dysplasia And Immunodeficiency 2
Aplasia of the sweat glands, Splenomegaly, Hepatomegaly OMIM:612132
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... OMIM:619381
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... OMIM:617718
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... ORPHA:64
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... ORPHA:69085
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Adrenal calcification, Cardiomegaly, Pericardial effu... ORPHA:51608
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Renal hypopl... OMIM:135900
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Oligosac... ORPHA:365
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system ORPHA:231736
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Mitral valve prolapse, Uterine rupture, Uterin... OMIM:130050
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T... ORPHA:536
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Bilobate gallbladder, Ventricular se... OMIM:261540
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bicuspid pulmona... ORPHA:709
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Norrie Disease
Retinal detachment, Diabetes mellitus, Remnants of the hyaloid vascular system, Cryptorchidism, O... ORPHA:649
Choreoacanthocytosis
Resting tremor, Head titubation, Hair-pulling, Blepharospasm, Abnormal autonomic nervous system p... ORPHA:2388
Neu-Laxova Syndrome 1
Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pat... OMIM:256520
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Remnants of the hyaloid vascular system, Protein... OMIM:609049
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Adrenal hypoplasia, Diabetes insipidus, Anterior pituita... OMIM:157170
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Plague
Hepatomegaly, Splenomegaly, Lymphadenitis, Endocarditis, Enlarged mesenteric lymph node ORPHA:707
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Umbilical hernia, Optic nerve hypoplasia, Dystonia OMIM:620330
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling OMIM:616393
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Vascular Ehlers-Danlos Syndrome
Hypospadias, Abnormal heart valve morphology, Cryptorchidism, Cystocele, Renovascular hypertensio... ORPHA:286
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling ORPHA:447997
Monosomy 22Q13.3
Hair-pulling, Umbilical hernia ORPHA:48652
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Rena... OMIM:601803
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Patent foramen ovale OMIM:619539
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250

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 Drgx

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 Drgx.

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

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
Drgxem1(IMPC)Mbp Exon Deletion Mice, Tissue
Drgxtm91588(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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