Gene Summary

Name:
paired related homeobox protein-like 1
Synonyms:
Drg11

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
small kidney Prrxl1em1(IMPC)Mbp HET Late adult 0.00
abnormal spleen morphology Prrxl1em1(IMPC)Mbp HET Late adult 0.00
abnormal adrenal gland morphology Prrxl1em1(IMPC)Mbp HET Late adult 0.00
abnormal liver morphology Prrxl1em1(IMPC)Mbp HET Late adult 0.00
abnormal vitreous body morphology Prrxl1em1(IMPC)Mbp HET   Late adult 4.74×10-05
abnormal heart morphology Prrxl1em1(IMPC)Mbp HET Late adult 0.00
abnormal uterus morphology Prrxl1em1(IMPC)Mbp HET Late adult 0.00
abnormal testis morphology Prrxl1em1(IMPC)Mbp HET Late adult 0.00
preweaning lethality, incomplete penetrance Prrxl1em1(IMPC)Mbp HOM   Early adult 0.00
preweaning lethality, complete penetrance Prrxl1em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Prrxl1em1(IMPC)Mbp HET Late adult 0.00
enlarged lymph nodes Prrxl1em1(IMPC)Mbp HET Late adult 0.00
enlarged spleen Prrxl1em1(IMPC)Mbp HET Late adult 0.00
enlarged heart Prrxl1em1(IMPC)Mbp HET Late adult 0.00
abnormal seminal vesicle morphology Prrxl1em1(IMPC)Mbp HET Late adult 0.00
abnormal skin morphology Prrxl1em1(IMPC)Mbp HET Late adult 0.00
abnormal lymph node morphology Prrxl1em1(IMPC)Mbp HET Late adult 0.00
embryonic growth retardation Prrxl1em1(IMPC)Mbp HOM E15.5 0.00
enlarged testis Prrxl1em1(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 Dorso Ventral

42 Images

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

57 Images

Human diseases caused by Prrxl1 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 Prrxl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Short stature, Intrauterine growth retardation OMIM:135950
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Endocardial fibrosis OMIM:235550
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Megalencephaly
Atrial septal defect, Macroorchidism, Long penis ORPHA:2477
Familial Male-Limited Precocious Puberty
Oligospermia, Precocious puberty, Macroorchidism, Long penis ORPHA:3000
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Abnormality of the ovary, Decreased propor... ORPHA:543
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Premature ovarian insufficiency ORPHA:100025
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Mccune-Albright Syndrome
Pancytopenia, Cholestasis, Abnormality of the thyroid gland, Increased circulating prolactin conc... ORPHA:562
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Partington Syndrome
Macroorchidism ORPHA:94083
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Ethanolaminosis
Cardiomegaly OMIM:227150
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Fragile X Syndrome
Congenital macroorchidism, Mitral valve prolapse, Macroorchidism, postpubertal OMIM:300624
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia, Renal salt wasting, Hypospadias OMIM:201710
Non-Functioning Pituitary Adenoma
Diabetes insipidus, Panhypopituitarism, Central adrenal insufficiency, Adrenocorticotropic hormon... ORPHA:91349
Polyembryoma
Increased serum testosterone level, Abdominal mass, Increased serum serotonin, Abnormal circulati... ORPHA:180229
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Cardiomyopathy, Elevated hepatic transaminase, Cirrhosis, Hep... OMIM:613313
Fragile X Syndrome
Macroorchidism, Mitral valve prolapse ORPHA:908
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, Cardiomegaly, ... ORPHA:324410
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Cardiomegaly, Azoospermia, Splenomegaly, Hepatomegaly, Testicular ... OMIM:235200
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Functioning Gonadotropic Adenoma
Central diabetes insipidus, Delayed puberty, Panhypopituitarism, Increased serum testosterone lev... ORPHA:91348
Lujan-Fryns Syndrome
Atrial septal defect, Macroorchidism ORPHA:776
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormality of female external genitalia, Decreased circulating cortisol level, Jaundice, Male ps... ORPHA:90790
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Elevated he... ORPHA:858
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Azoospermia, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volum... OMIM:615234
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Ovarian cyst, Elev... ORPHA:90793
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymph nodes, Abnormality of the pancreas, Neutrophilia, Anemia, Elevated hepat... ORPHA:54251
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Dilated cardiomyopathy, Elevated hepatic transaminase, Hepatomegaly OMIM:615895
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Increased serum testosterone level, Oligospe... ORPHA:8
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Bence Jones Proteinuria, Anemia, Abnormal B cell count, Lymphadenopat... ORPHA:100024
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... ORPHA:319487
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Splenomega... ORPHA:417
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Kerion Celsi
Lymphadenopathy ORPHA:499
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Male pseudohermaphroditism, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90791
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy... OMIM:607685
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Isolated Splenogonadal Fusion
Abnormality of the epididymis, Unilateral cryptorchidism, Abnormal penis morphology, Ectopia of t... ORPHA:457083
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Splenomegaly, Hepatomegaly, Hypogonadism OMIM:608540
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting, Hypospadias OMIM:201910
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... ORPHA:97290
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis OMIM:614480
Tyrosinemia Type 1
Generalized aminoaciduria, Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carc... ORPHA:882
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Nephrotic syndrome, Hepatosplenomegaly, Elevated circulat... OMIM:615559
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Azoospermia, Splenomegaly, Hepatomegaly, C... OMIM:602390
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Accessory spleen, Hepatopulmonary fusion, Cryptorchid... OMIM:618280
Nephronophthisis 19
Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly,... OMIM:616217
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Primary gonadal insufficiency, Female hypog... ORPHA:755
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Elevated circulating luteinizing ho... OMIM:273250
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Increased serum serotonin, Chronic noninfectious lymphadenopa... ORPHA:100083
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Macroorchidism, Elevated circulating growth hormone... ORPHA:85327
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Cardiac myxoma, Nephrolithiasis, Testicular neoplasm, Increased urinary cortis... ORPHA:189439
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... OMIM:202010
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Ambiguous genitalia OMIM:202110
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Anemia, Abnormality of the peritoneum, Lymph... ORPHA:83469
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly, Optic atrophy OMIM:611721
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, ... OMIM:619375
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Splenomegaly, Hepatomegaly, Lymphadeno... OMIM:609981
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Genital ulcers, Aplasia of the thymus OMIM:602450
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly, Trimethylaminuria OMIM:602079
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Splenomegaly, Hypoplasia of penis, Anemia, Ascites, Hypospadias ORPHA:1046
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Ascites, Cardiomegaly OMIM:269920
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Micropenis, Absent scrotum, Male pseudohermaphroditism, Ambiguous genitalia, ... OMIM:201810
Cystic Echinococcosis
Eosinophilia, Renal cyst, Abnormality of the testis size, Abnormality of the pancreas, Biliary tr... ORPHA:400
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Reduced radioactive iodine uptake, ... ORPHA:90674
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Elevated hepatic transaminase, C... ORPHA:79301
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Diabetes mellitus, Ascites, Cirrhosis, Hepati... OMIM:271500
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Cholestasis, Hepatic bridging fibros... OMIM:619658
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the lymph nodes, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Decreased gl... ORPHA:85450
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Nephrotic syndrome, Hepatomegaly, Cardiomyopathy, Elevated hepatic transaminase, ... OMIM:617713
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Left ... ORPHA:251274
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Mitral valve prolapse OMIM:618874
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Azoospermia, Cryptorchidism, Micropenis, ... OMIM:614837
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Symptomatic Form Of Hemochromatosis Type 1
Hypogonadotropic hypogonadism, Hypothyroidism, Portal hypertension, Cardiomegaly, Cholangiocarcin... ORPHA:465508
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Amyloidosis, Familial Visceral
Nephrotic syndrome, Cholestasis, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Nephropathy OMIM:105200
Granulomatous Slack Skin
Abnormality of the lymph nodes, Nephrocalcinosis, Acute kidney injury ORPHA:33111
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... OMIM:300853
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Aromatase Deficiency
Hepatic steatosis, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Macr... ORPHA:91
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Vacuolated lymphocytes, Proteinuria, Splenomega... OMIM:256550
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Nephrolithiasis, Ventricular septal defect, Ventricular hypertrophy, Adrenal ... ORPHA:369929
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Beta-Thalassemia
Cholelithiasis, Microcytic anemia, Hypogonadotropic hypogonadism, Hypertrophic cardiomyopathy, Sp... ORPHA:848
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Adrenal calcification ORPHA:75234
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
Trisomy 20P
Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Macroorchidism, Hypospadias, Multiple ... ORPHA:261318
Beta-Thalassemia Intermedia
Hypothyroidism, Diabetes mellitus, Persistence of hemoglobin F, Cholelithiasis, Decreased liver f... ORPHA:231222
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Renal cortical microcysts, Hepatosplenomegaly, Cryptorchidism, Splenomegaly, Intrahep... OMIM:614866
Sickle Cell Anemia
Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Hematuria, Splenomegaly, Hepa... OMIM:603903
Meacham Syndrome
Tetralogy of Fallot, Horseshoe kidney, Conotruncal defect, Cryptorchidism, Abnormal vagina morpho... ORPHA:3097
Heme Oxygenase 1 Deficiency
Elevated circulating alanine aminotransferase concentration, Hematuria, Proteinuria, Thrombocytos... OMIM:614034
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Primary hyperparathyroidism, Mediastin... ORPHA:97289
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Sandhoff Disease
Splenomegaly, Hepatomegaly ORPHA:796
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count OMIM:618982
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of urine homeostasis, Bili... ORPHA:1414
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Lig4 Syndrome
Pancytopenia, Hypothyroidism, Leukocytosis, Cryptorchidism, Hepatomegaly, Hypoplasia of penis, Ly... ORPHA:99812
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Ovarian carcinom... ORPHA:1359
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Increased urinary porphobilinogen, Jaundice, Elevated urinary delta-a... OMIM:121300
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Autoimmune Polyendocrinopathy Type 1
Primary adrenal insufficiency, Abnormal calcium-phosphate regulating hormone level, Decreased cir... ORPHA:3453
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Increased antimullerian hormone level, ... ORPHA:99429
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Ele... OMIM:616828
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Spondylometaphyseal Dysplasia, Axial
Retinal degeneration, Splenomegaly, Optic atrophy OMIM:602271
Lysosomal Acid Lipase Deficiency
Hepatic failure, Anemia, Hypersplenism, Thrombocytopenia, Adrenal calcification, Leukopenia, Peri... OMIM:278000
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Ventricular septal hypertrophy, Renal tubular acidosis, Hepatic steatosis, Polycystic ovaries, Ch... ORPHA:370
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Elevated hepatic ... OMIM:616860
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Delayed puberty, Cryptorchidism, Micropenis, Decreased serum testo... OMIM:614841
Microphthalmia, Syndromic 9
Hypoplastic spleen, Tetralogy of Fallot, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Renal ... OMIM:601186
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:2584
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Accessory spleen, Adrenal gland dysgenesis, Abnormal vagi... OMIM:236680
Diethylstilbestrol Syndrome
Epididymal cyst, Cryptorchidism, Micropenis, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Immunodeficiency 7
Hypereosinophilia, Lymphadenopathy OMIM:615387
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemi... OMIM:616278
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatic failure, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Sple... ORPHA:158057
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B ly... OMIM:603554
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Splenomegaly, Hepatomegaly, Cardiomyopathy, Abnormality of the t... ORPHA:93476
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Cirrhosis, Neonatal cholesta... OMIM:214900
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, ... OMIM:266810
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Congenital adrenal hyperplasia, Hydrocele testis, Thrombocyto... ORPHA:96181
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Cryptorchidism, Hydronephrosis, Atrial septal defect, Cor triatriatum, S... OMIM:612541
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Patent foramen ovale, Atrial septal defect, Splenomegaly, Hepat... OMIM:606003
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... OMIM:607594
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Perineal hypospadias, Azoospermia, ... ORPHA:90797
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Secretory adrenocorti... ORPHA:404
Medullary Thyroid Carcinoma
Elevated calcitonin, Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, ... ORPHA:1332
Ovarian Dysgenesis 2
Delayed puberty, Gonadal hypoplasia, Abnormality of the uterus, Premature ovarian insufficiency, ... OMIM:300510
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperal... ORPHA:403
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis ORPHA:172
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Ca... OMIM:252920
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Histiocytosis, Azoospermia, Micropenis, Pancreatic hypoplasia, Atrial septal ... OMIM:602782
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hepatic failure, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphad... OMIM:308240
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Roifman Syndrome
Eosinophilia, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy, Noncompaction c... ORPHA:353298
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, ... OMIM:618652
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level, Hyperaldosteronism OMIM:103900
Tetraamelia Syndrome 1
Adrenal gland agenesis, Vaginal atresia, Absent external genitalia, Hypoplasia of the fallopian t... OMIM:273395
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnorm... ORPHA:95699
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpho... ORPHA:168563
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Adrenal gland agenesis, Ventricular septal defect, Sex reversal, Hypospadias OMIM:611812
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenome... OMIM:263200
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Familial Pancreatic Carcinoma
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ovarian carcinoma, Jaundice, Neoplasm of t... ORPHA:1333
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... OMIM:612965
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Acth-Independent Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Primary hypercortisolism, Adrenal hyperplasia, Decreased circul... OMIM:219080
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Pancreatitis, Renal insufficienc... ORPHA:79312
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Nephrotic syndrome, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, ... OMIM:603909
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Thrombocytopenia, Adrenal hypopl... OMIM:619151
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Monocytosis, Hemolytic-uremic syndrome, Hemophagocytosis, Hepatosplenomegaly,... OMIM:619644
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Decreased hemoglobin conc... OMIM:613673
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Retinal degeneration, Cholestasis, Chronic kidney disease, Hepatomegaly, Splenom... OMIM:615630
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Bacterial endocarditis, Jaundice, Pulmonic valve myxoma, Ascites, Ca... ORPHA:615
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Hepatosplenomegaly, Cryptorchidism, Micropenis, Hydronephrosis, Vaginal atresia,... ORPHA:1655
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia, Optic atrophy OMIM:615085
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Decreas... OMIM:212140
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Nephrolithiasis, Macronodular adrenal hyperplasia, Abnormal response to cortic... ORPHA:189427
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Congenital Rubella Syndrome
Atrial septal defect, Abnormality of retinal pigmentation, Splenomegaly, Hepatomegaly, Jaundice, ... ORPHA:290
Wolman Disease
Adrenal insufficiency, Hepatic failure, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cell... ORPHA:75233
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Diabetes mellitus OMIM:612526
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly, Hepatomegaly, Pericarditis ORPHA:85414
Immunodeficiency 55
Neutropenia, Lymphadenopathy OMIM:617827
Roifman Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Ventricular septal defect, Lymphadenopathy, Noncompacti... OMIM:616651
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopathy ORPHA:79477
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Optic disc pallor, Reticulocytosis, Throm... OMIM:611490
Mogs-Cdg
Hypothyroidism, Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomeg... ORPHA:79330
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Increased circulating cortisol level, Diabetes mellitus, Primary hypercortis... OMIM:615830
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... OMIM:613027
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Papilledema, Anemia, Lymphadenopathy OMIM:607115
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, Nephrolithiasis, Hepatoblastoma, Adrenoc... OMIM:130650
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Matthew-Wood Syndrome
Horseshoe kidney, Cryptorchidism, Renal hypoplasia, Abnormal spleen morphology, Abnormality of th... ORPHA:2470
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Hypothyroidism, Nephrotic syndrome, Leukocytosis, S... ORPHA:39041
Harderoporphyria
Red urine, Splenomegaly, Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary ... OMIM:618892
Classic Hodgkin Lymphoma
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly ORPHA:391
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Acute kidney injury, Proteinuria, Anemia, Cardiomegaly, Congenital t... OMIM:618886
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Lymphadenopathy, Goiter ORPHA:97285
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Thro... OMIM:610333
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Babesiosis
Hepatic failure, Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Renal insuff... ORPHA:108
Primary Myelofibrosis
Pancytopenia, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly... ORPHA:824
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Micropenis, Decreased serum testos... ORPHA:261534
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:610293
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, Lymphadenopathy... OMIM:150550
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Increased urinary cortisol level, Oligospermia, Decreased circulating aldost... ORPHA:786
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Hypercalciuria, Polyuria, Decreased circulating renin level, Adrenal hyperplasia OMIM:613677
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... ORPHA:53035
Proteus Syndrome
Renal cyst, Diabetes insipidus, Lymphangioma, Abnormality of retinal pigmentation, Testicular neo... ORPHA:744
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level OMIM:618987
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Mulibrey Nanism
Pericardial constriction, Hepatomegaly, Pigmentary retinopathy, Ascites, Cardiomegaly, Myocardial... OMIM:253250
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Nephrotic syndrome, Hepatosplenomegaly, Lymphadenitis, Autoimmune thrombocytopenia,... ORPHA:911
Dysplastic Cortical Hyperostosis
Splenomegaly, Hepatomegaly ORPHA:2204
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Lymphadenopathy OMIM:212050
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Eleva... OMIM:619463
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Nephrotic syndrome, Thrombocytopenia, Splenomegaly OMIM:615846
Lymphatic Filariasis
Nephrotic syndrome, Lymphadenitis, Hematuria, Orchitis, Proteinuria, Lymphangiectasis, Hypereosin... ORPHA:2035
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Elevated hepatic transaminase ORPHA:75563
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... ORPHA:64743
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Ovarian neoplasm ORPHA:2221
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of neu... ORPHA:381
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Anemia, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Absence of lymph node germinal center, Absent tonsils, B lymphocytopenia, Lymp... ORPHA:277
Dominant Beta-Thalassemia
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Chronic hepatitis, Anisocyto... ORPHA:231226
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Cardiomegaly, Atrial septal defect, Abnormal mitral valve mo... ORPHA:860
Primary Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Cardiomyopathy, Type II diabetes mellitus, P... ORPHA:90970
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Testicular Agenesis
Absent testis, Micropenis, Decreased serum testosterone concentration, Increased circulating gona... ORPHA:325124
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Exercise-induced hemolysis, Splenomegaly, Hemoglobinuria, Hepatomegaly, Jaundice,... OMIM:194380
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Macrophage Activation Syndrome
Elevated circulating alanine aminotransferase concentration, Hemophagocytosis, Elevated circulati... ORPHA:158061
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fi... OMIM:251880
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Hepatic steatosis, Polycystic ovaries, Cholestasis, Delayed puberty, Sple... ORPHA:264580
Legionnaires Disease
Bone marrow hypocellularity, Hematuria, Proteinuria, Endocarditis, Splenomegaly, Myocarditis, Jau... ORPHA:549
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormality of the peritoneum, Ascites ORPHA:26790
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Abnorm... ORPHA:251510
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly, Macrovesicular... OMIM:600649
Attrv30M Amyloidosis
Cardiomegaly, Abnormal renal physiology, Nephropathy, Cardiomyopathy ORPHA:85447
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Nephrotic syndrome, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurren... OMIM:618935
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:612964
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Hepatitis, Aplastic anemia OMIM:300635
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Nephrocalcinosis, Nephrotic syndrome, Septate vagina, Hematuria, Proteinur... OMIM:146255
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Cryptorchidism, Hydronephrosis, Micropenis, Pancreatic lymphangiectasis, Splenom... OMIM:235255
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Septate vagina, Uterus didelphys, Hydronephrosi... ORPHA:2237
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Generalized lymphadenopathy, Hepatomegal... ORPHA:829
Beta-Thalassemia Major
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Diabetes mellitus, Anisopoik... ORPHA:231214
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Portal hypertension, Hepatosplenomegaly, Leukemia, L... ORPHA:98850
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly ORPHA:664
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis OMIM:613489
Aspartylglucosaminuria
Aspartylglucosaminuria, Macroorchidism, Hepatomegaly, Splenomegaly ORPHA:93
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, I... ORPHA:79083
8P11.2 Deletion Syndrome
Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Az... ORPHA:251066
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly OMIM:255120
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Hematuria, Proteinuria, Ascites, Splenomegaly, Hepatomegaly, Lym... ORPHA:36412
American Trypanosomiasis
Splenomegaly, Hepatomegaly, Myocarditis, Cardiomyopathy, Lymphadenopathy ORPHA:3386
Coach Syndrome 1
Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Portal hypertension, Multi... OMIM:216360
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis OMIM:266200
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619665
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, D... ORPHA:2348
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Immunodeficiency 32B
Splenomegaly OMIM:226990
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of th... OMIM:158330
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Jaundice, Lymphadenopathy ORPHA:99978
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Pagod Syndrome
Optic atrophy, Abnormal morphology of female internal genitalia, Situs inversus totalis, Abnormal... ORPHA:991
Niemann-Pick Disease, Type A
Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:257200
Sialidosis Type 2
Splenomegaly, Hepatomegaly, Nephropathy, Ascites ORPHA:87876
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Abnormality of the liver, Hepatic failure, Splenomegaly, He... ORPHA:398124
Poems Syndrome
Hypothyroidism, Primary adrenal insufficiency, Thrombocytosis, Ascites, Visceromegaly, Increased ... ORPHA:2905
Gaucher Disease Type 1
Pancytopenia, Abnormal myocardium morphology, Leukopenia, Hematuria, Proteinuria, Biliary tract o... ORPHA:77259
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Urinary retention, Porta... ORPHA:79124
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Elevated hepatic transaminase, Hepatomegaly OMIM:619064
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... OMIM:308230
Castleman Disease
Hematuria, Abdominal mass, Generalized lymphadenopathy, Jaundice, Anemia, Follicular hyperplasia,... ORPHA:160
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia OMIM:608184
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Agammaglobulinemia, X-Linked
T lymphocytopenia, Prostatitis, Neutropenia, Anemia, Epididymitis, B lymphocytopenia, Hepatocellu... OMIM:300755
Isolated Biliary Atresia
Hypothyroidism, Cholestasis, Periportal fibrosis, Bile duct proliferation, Dark yellow urine, Atr... ORPHA:30391
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatic steatosis, Elevated circulating alanine aminotransferase concentr... OMIM:614921
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular... OMIM:201475
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Decreased liver function, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid... ORPHA:42
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Cinca Syndrome
Pseudopapilledema, Leukocytosis, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Anemia, ... ORPHA:1451
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus OMIM:618117
Scrub Typhus
Splenomegaly, Lymphadenopathy, Myocarditis, Renal insufficiency ORPHA:83317
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Re... ORPHA:91138
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomega... OMIM:231005
H Syndrome
Microcytic anemia, Enlarged kidney, Hepatosplenomegaly, Histiocytosis, Azoospermia, Micropenis, L... ORPHA:168569
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Pancytopenia, Cholestasis, Proximal tubulopathy, Atrial septal defect,... OMIM:614576
Cardiomyopathy, Familial Hypertrophic, 4
Ascites, Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal h... OMIM:115197
Anaplastic Thyroid Carcinoma
Goiter, Anaplastic thyroid carcinoma, Nodular goiter, Lymphadenopathy ORPHA:142
Felty Syndrome
Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Neutrope... ORPHA:47612
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Q Fever
Abnormality of the liver, Hepatosplenomegaly, Abnormal heart valve morphology, Hematuria, Cholecy... ORPHA:781
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:3162
Oculoskeletodental Syndrome
Hypothyroidism, Cryptorchidism, Hypercalciuria, Splenomegaly, Hepatomegaly, Mucopolysacchariduria OMIM:618440
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Anemia, Pericarditis, Abnormal hemoglobin ORPHA:163596
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, Splenomegaly, Abnormal splee... ORPHA:464329
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Optic disc pallor OMIM:619170
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Lymphadenopathy OMIM:618048
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Decreased liver function, Neutropenia, An... ORPHA:540
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Timothy Syndrome
Hypothyroidism, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly OMIM:601005
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circulating corticostero... ORPHA:90796
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hepatomegaly, Pulmonic stenosis, Ascites, Chylopericardium ORPHA:2414
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Anemia, Lymph... ORPHA:3392
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Hypothyroidism, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glom... OMIM:304790
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Myeloproliferative disorder, Hepatomegaly, Abnormality of the spleen, L... ORPHA:79456
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypoplasia, Splenomega... OMIM:610199
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Anemia... ORPHA:905
Nephroblastoma
Lymphadenopathy, Neoplasm of the liver, Hematuria ORPHA:654
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Splenomegaly, Hepatomegaly, Hypogonadism, Decreased t... OMIM:201100
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Familial Mediterranean Fever
Nephrocalcinosis, Nephrotic syndrome, Proteinuria, Orchitis, Peritonitis, Ascites, Splenomegaly, ... ORPHA:342
Lipodystrophy, Congenital Generalized, Type 2
Ventricular septal hypertrophy, Hepatic steatosis, Acute pancreatitis, Nephrolithiasis, Polycysti... OMIM:269700
Boutonneuse Fever
Leukopenia, Cervical lymphadenopathy, Lymphadenopathy, Elevated hepatic transaminase, Renal insuf... ORPHA:83313
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Delayed puberty, Cryptorchidism, Micropenis, ... ORPHA:432
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hydronephrosis, Hypertrophic cardiomyopathy, Ventricular septal defect, Ascites, Card... OMIM:616897
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence o... OMIM:613179
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Nephrotic syndrome, Tubulointerstitial nephritis, Myocarditis, Acute hepatic failur... ORPHA:139402
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop... OMIM:616100
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Ascites, Glomerulonephritis, Splenomegaly, Ja... ORPHA:2137
Lumbar Syndrome
Hypoplastic labia majora, Cryptorchidism, Micropenis, Bladder exstrophy, Bifid uterus, Bifid scro... ORPHA:83628
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Acute pancreatitis, Nephrolithiasis, Polycystic ovaries, Hyperinsulinemia, Spl... OMIM:608594
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Unilateral renal agenesis, Glycosuria, Stage 5 chronic kidney disease, Renal cys... OMIM:137920
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:619183
Refsum Disease, Classic
Cardiomegaly, Retinal degeneration, Abnormal renal physiology, Cardiomyopathy OMIM:266500
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Hypern... ORPHA:90794
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Proteinuria, Hydronephrosis, Prostatitis, Membranous nephr... ORPHA:449395
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Cardiomegaly, Ventricular septal defect, Overriding aorta OMIM:617022
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Polycystic ovaries, Splenomegaly, Myoglobinuria, Hepatomegaly, Anemia, El... ORPHA:79240
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Elevated hepatic... OMIM:235555
Budd-Chiari Syndrome
Portal hypertension, Peritonitis, Cholecystitis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepa... ORPHA:131
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Accessory... OMIM:619418
Bronchial Neuroendocrine Tumor
Hepatic failure, Pulmonary carcinoid tumor, Hepatomegaly, Elevated circulating growth hormone con... ORPHA:97287
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... ORPHA:822
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hydronephrosis, Pigmentary re... OMIM:301068
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Splenomegaly, Hepatomega... ORPHA:567983
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Pancreatic endocrine tumor, Increased circulating androgen concentrati... ORPHA:99889
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Hepatitis, Elev... ORPHA:3261
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hypothyroidism, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulato... OMIM:606367
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Elevated c... OMIM:619203
Duodenal Neuroendocrine Tumor
Intestinal carcinoid, Paraganglioma, Hepatic failure, Increased hematocrit, Intrahepatic cholesta... ORPHA:100076
Mixed Connective Tissue Disease
Leukopenia, Splenomegaly, Hepatomegaly, Myocarditis, Hemolytic anemia, Lymphadenopathy, Nephropat... ORPHA:809
Syndromic Diarrhea
Hepatoblastoma, Abnormality of the liver, Cirrhosis, Hypothyroidism, Tetralogy of Fallot, Thrombo... ORPHA:84064
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Fluctuating splenomegaly, Elevat... OMIM:610377
Carcinoid Syndrome
Intestinal carcinoid, Paraganglioma, Pulmonary carcinoid tumor, Increased serum serotonin, Chroni... ORPHA:100093
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Type I diabetes mellitus, Lymphadenopathy, Proteinuria ORPHA:69126
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Elevated circulating alanine aminotransferase concentrat... OMIM:608836
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Ascites, Pancrea... OMIM:276700
Gaucher Disease, Type I
Pancytopenia, Aortic valve stenosis, Splenomegaly, Hepatomegaly, Anemia, Macular atrophy, Hypersp... OMIM:230800
Proteus-Like Syndrome
Polycystic ovaries, Retinal detachment, Splenomegaly, Abnormality of the parathyroid gland, Thymu... ORPHA:2969
Muckle-Wells Syndrome
Nephrotic syndrome, Splenomegaly, Hepatomegaly, Anemia, Nephropathy, Delayed puberty, Optic atrophy ORPHA:575
Aredyld Syndrome
Abnormality of the ureter, Splenomegaly, Hepatomegaly, Type II diabetes mellitus, Type I diabetes... ORPHA:1133
Lymphangioleiomyomatosis
Renal angiomyolipoma, Abnormal urinary color, Hematuria, Pulmonary lymphangiomyomatosis, Abnormal... ORPHA:538
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... OMIM:612714
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Increased serum serotonin, Chronic noninf... ORPHA:100080
Macrocephaly/Autism Syndrome