Gene: Ncoa2 MGI:1276533

Gene Summary

Name:

nuclear receptor coactivator 2

Synonyms:

glucocorticoid receptor-interacting protein 1, bHLHe75, SRC-2, D1Ertd433e, TIF-2, Grip1, TIF2/GRIP-1, TIF2, KAT13C

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
no spontaneous movement	Ncoa2^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal body wall morphology	Ncoa2^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal umbilical cord morphology	Ncoa2^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal spleen morphology	Ncoa2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal kidney morphology	Ncoa2^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta vasculature	Ncoa2^em1(IMPC)Mbp	HET	E18.5	0.00
increased circulating insulin level	Ncoa2^em1(IMPC)Mbp	HET	Early adult	2.73×10^-05
no spontaneous movement	Ncoa2^em1(IMPC)Mbp	HET	E18.5	0.00
preweaning lethality, incomplete penetrance	Ncoa2^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Ncoa2^em1(IMPC)Mbp	HET	Early adult	0.00
small kidney	Ncoa2^em1(IMPC)Mbp	HET	Early adult	0.00
decreased circulating serum albumin level	Ncoa2^em1(IMPC)Mbp	HET	Early adult	8.70×10^-05
abnormal skin morphology	Ncoa2^em1(IMPC)Mbp	HET	Early adult	0.00
increased neutrophil cell number	Ncoa2^em1(IMPC)Mbp	HET	Early adult	1.07×10^-06

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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.

MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Ncoa2 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.

Human diseases associated with Ncoa2 (0 diseases)
Human diseases predicted to be associated with Ncoa2 (625 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ncoa2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 18	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617576
Spermatogenic Failure 19	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617592
Spermatogenic Failure 35	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618341
Spermatogenic Failure 33	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618152
Spermatogenic Failure 34	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618153
Spermatogenic Failure 65	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced...	OMIM:619712
Spermatogenic Failure 72	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s...	OMIM:619867
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 46	Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell...	OMIM:619095
Spermatogenic Failure 10	Infertility, Abnormal sperm morphology	OMIM:614822
Spermatogenic Failure 54	Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel...	OMIM:619379
Spermatogenic Failure 43	Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai...	OMIM:618751
Spermatogenic Failure 49	Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe...	OMIM:619094
Spermatogenic Failure, X-Linked, 3	Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short...	OMIM:301059
Spermatogenic Failure 56	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced...	OMIM:619515
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 11	Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 51	Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot...	OMIM:619177
Spermatogenic Failure 42	Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma...	OMIM:618745
Spermatogenic Failure 40	Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse...	OMIM:618664
Spermatogenic Failure 39	Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili...	OMIM:618643
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Immotile sperm, Male infertility, Abnormal sperm morphology	OMIM:608653
Male Infertility Due To Acephalic Spermatozoa	Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid...	ORPHA:529970
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi...	OMIM:611102
Spermatogenic Failure 47	Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella	OMIM:619102
Spermatogenic Failure 58	Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ...	OMIM:619585
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula...	ORPHA:399808
Spermatogenic Failure 41	Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head	OMIM:618670
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head	OMIM:243060
Spermatogenic Failure 24	Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta...	OMIM:617959
Spermatogenic Failure 26	Acephalic spermatozoa, Infertility	OMIM:617961
Partial Chromosome Y Deletion	Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ...	ORPHA:1646
Spermatogenic Failure 16	Acephalic spermatozoa, Infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Acephalic spermatozoa, Infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 64	Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility	OMIM:619696
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Isochromosomy Yp	Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ...	ORPHA:98797
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size	OMIM:619689
Isochromosomy Yq	Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins...	ORPHA:98798
Spermatogenic Failure 57	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 38	Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti...	OMIM:618433
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size	OMIM:619145
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,...	OMIM:610021
Isolated Follicle Stimulating Hormone Deficiency	Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo...	ORPHA:52901
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin...	OMIM:619868
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D...	OMIM:614840
Spermatogenic Failure 6	Globozoospermia, Male infertility, Decreased acrosin in sperm head	OMIM:102530
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Anemia, Stage 5...	OMIM:603278
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ...	ORPHA:263458
Hyperinsulinism Due To Glucokinase Deficiency	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h...	ORPHA:79299
Hypogonadism, Male	Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis	OMIM:241100
Spermatogenic Failure 25	Azoospermia, Cryptozoospermia, Decreased testicular size	OMIM:617960
Hyperinsulinemic Hypoglycemia, Familial, 5	Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:609968
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Cryptorchidism, Micropenis, Small for gestational age, Hypospadias, Dec...	ORPHA:1916
Spermatogenic Failure, X-Linked, 2	Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility	OMIM:619108
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ...	OMIM:146110
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Nephrotic Syndrome, Type 2	Hyperlipidemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbumine...	OMIM:600995
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Nephrotic Syndrome, Type 15	Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ...	OMIM:617609
Hyperinsulinemic Hypoglycemia, Familial, 3	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus	OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis	OMIM:601820
Nephrotic Syndrome, Type 9	Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chr...	OMIM:615573
Spermatogenic Failure 1	Cryptozoospermia, Oligospermia, Male infertility	OMIM:258150
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility	OMIM:261550
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th...	OMIM:209950
Spermatogenic Failure 12	Azoospermia, Infertility, Abnormal male germ cell morphology	OMIM:615413
Hyperinsulinemic Hypoglycemia, Familial, 1	Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures	OMIM:256450
Spinocerebellar Ataxia Type 32	Azoospermia, Testicular atrophy, Male infertility	ORPHA:276183
Spermatogenic Failure 7	Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility	OMIM:612997
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoglycemia, Hypoalbuminemia, Ascites,...	OMIM:617156
Spermatogenic Failure 73	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619937
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,...	ORPHA:293964
Focal Segmental Glomerulosclerosis 6	Chronic kidney disease, Nephrotic syndrome, Hematuria, Focal segmental glomerulosclerosis, Protei...	OMIM:614131
Ring Chromosome Y Syndrome	Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m...	ORPHA:261529
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In...	ORPHA:399805
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc...	ORPHA:324575
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Elevated circulating C-...	OMIM:308240
Spermatogenic Failure 70	Azoospermia, Oligospermia, Male infertility, Reduced sperm motility	OMIM:619828
Spermatogenic Failure 22	Cryptozoospermia, Male infertility, Non-obstructive azoospermia	OMIM:617706
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Neutrophilia, Hereditary	Hepatosplenomegaly, Neutrophilia	OMIM:162830
Kennedy Disease	Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility	ORPHA:481
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, ...	OMIM:606762
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Autosomal Recessive Spastic Paraplegia Type 46	Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A...	ORPHA:320391
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas...	ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 4	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:609975
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Nephrotic syndrome, Acute kidney injury, Renal insufficiency, Proteinuria...	ORPHA:54370
Leishmaniasis	Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytop...	ORPHA:507
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma...	ORPHA:983
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote...	ORPHA:158061
Spermatogenic Failure 32	Azoospermia, Infertility	OMIM:618115
Spermatogenic Failure 23	Azoospermia, Infertility	OMIM:617707
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas...	ORPHA:276575
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Asymptomatic hy...	ORPHA:35878
Insulinomatosis And Diabetes Mellitus	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,...	OMIM:147630
Nephrotic Syndrome, Type 6	Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine...	OMIM:614196
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:616050
Nephrotic Syndrome, Type 14	Adrenal insufficiency, Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, ...	OMIM:617575
Spermatogenic Failure 8	Azoospermia, Oligospermia, Cryptozoospermia	OMIM:613957
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa...	ORPHA:64743
Familial Male-Limited Precocious Puberty	Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism	ORPHA:3000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,...	OMIM:251880
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly	OMIM:206400
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen...	ORPHA:753
Nephrotic Syndrome, Type 3	Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,...	OMIM:610725
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hyperinsulinemic hypoglycemia, Cirrhosis, Renal cyst, Hepatic fibrosis, Hypoalbumin...	OMIM:602579
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Galloway-Mowat Syndrome 8	Nephrotic syndrome, Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia	OMIM:618349
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea...	ORPHA:79084
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Generalized aminoaciduria, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop...	OMIM:267700
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly	OMIM:118830
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Hypoalbuminemia, Hypoproteinemia, Neutropenia	OMIM:600351
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia, Hyp...	OMIM:619013
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu...	ORPHA:2298
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism	OMIM:616030
Mody	Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins...	ORPHA:552
Trimethylaminuria	Trimethylaminuria, Anemia, Neutropenia, Splenomegaly	OMIM:602079
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia...	ORPHA:411593
Mpi-Cdg	Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis, Hypoalbuminemia, P...	ORPHA:79319
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Wolcott-Rallison Syndrome	Chronic kidney disease, Exocrine pancreatic insufficiency, Hepatomegaly, Lymphocytosis, Hyperbili...	ORPHA:1667
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr...	OMIM:614837
Neonatal Severe Primary Hyperparathyroidism	Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega...	ORPHA:417
Fibronectin Glomerulopathy	Nephrotic syndrome, Renal insufficiency, Proteinuria, Hypoalbuminemia, Microscopic hematuria	ORPHA:84090
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,...	OMIM:237800
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus...	ORPHA:280356
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Infertility, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Abnormality of the urethr...	ORPHA:752
Triokinase And Fmn Cyclase Deficiency Syndrome	Pancreatitis, Hepatomegaly, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis	OMIM:618805
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul...	OMIM:229070
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Excessive insu...	ORPHA:276556
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,...	ORPHA:276608
Hemoglobin H Disease	Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Cholestatic liver disease, Hepatomegaly, Hemophagoc...	ORPHA:540
Azoospermia, Obstructive, With Nephrolithiasis	Spermatocele, Obstructive azoospermia, Male infertility	OMIM:301060
Alg6-Cdg	Jaundice, Decreased LDL cholesterol concentration, Hypoalbuminemia, Puberty and gonadal disorders...	ORPHA:79320
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly	ORPHA:46532
Nephrotic Syndrome, Type 8	Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin...	OMIM:615244
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper...	OMIM:603552
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Diarrhea 7, Protein-Losing Enteropathy Type	Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia	OMIM:615863
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona...	OMIM:308700
Galactokinase Deficiency	Increased level of galactitol in urine, Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogon...	ORPHA:79237
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep...	OMIM:615234
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per...	ORPHA:567548
Immunodeficiency 69	Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr...	OMIM:618963
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb...	OMIM:615285
Genetic Steroid-Resistant Nephrotic Syndrome	Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero...	ORPHA:656
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop...	OMIM:603553
Nephrotic Syndrome, Type 1	Congenital nephrotic syndrome, Hyperlipidemia, Diffuse mesangial sclerosis, Hypoproteinemia, Hypo...	OMIM:256300
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Refractory Celiac Disease	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ...	ORPHA:398063
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cholestasis, Conjugated hyperbilirubinemia, Prote...	OMIM:620010
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Micropenis, Primary amenorrhea, Decreased testicular size, Cryptorchidism	OMIM:614880
Analbuminemia	Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen...	OMIM:616000
Splenoportal Vascular Anomalies	Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous ...	OMIM:271500
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu...	ORPHA:79644
Kallmann Syndrome With Spastic Paraplegia	Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Hyp...	OMIM:308750
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Decreased testicular size	OMIM:614858
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly	OMIM:179700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ...	OMIM:616860
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Decreased response to growth hormone stimulation test, Focal segmental glomer...	OMIM:618347
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D...	OMIM:610628
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Lipodystrophy, Familial Partial, Type 3	Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Decreased HDL cholesterol concentration, ...	OMIM:604367
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:66628
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating...	OMIM:108420
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,...	ORPHA:766
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoalbuminemi...	ORPHA:2070
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor...	ORPHA:247598
Obesity Due To Prohormone Convertase I Deficiency	Hyperinsulinemia, Central adrenal insufficiency, Decreased response to growth hormone stimulation...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hyperinsulinemia, Central adrenal insufficiency, Decreased response to growth hormone stimulation...	ORPHA:71526
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Hemochromatosis, Type 2B	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibr...	OMIM:613313
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility	ORPHA:48
Leydig Cell Hypoplasia	Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the...	ORPHA:755
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad...	ORPHA:179494
Androgen Insensitivity, Partial	Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona...	OMIM:312300
Galactosemia Iii	Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Jaundice	OMIM:230350
Mucopolysaccharidosis-Plus Syndrome	Nephrotic syndrome, Hepatomegaly, Nephritis, Splenomegaly, Leukopenia, Macrovesicular hepatic ste...	OMIM:617303
Premature Ovarian Failure 10	Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo...	OMIM:612885
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
46,Xy Sex Reversal 11	Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem...	OMIM:273250
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic...	OMIM:603902
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistance	OMIM:617885
Congenital Enterovirus Infection	Leukocytosis, Hyperammonemia, Leukopenia, Cholestasis, Abnormal macrophage morphology, Hepatitis,...	ORPHA:292
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism	ORPHA:242
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid...	OMIM:133180
Citrullinemia Type Ii	Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc...	ORPHA:247585
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cholestasis, Thrombocytopenia, Hypothyroidism, Elevated circulating creatinine conc...	OMIM:608104
Hyperinsulinism Due To Hnf4A Deficiency	Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnormal...	ORPHA:263455
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Diabetic ketoacidosis, Long pen...	OMIM:262190
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h...	ORPHA:444463
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia	OMIM:246700
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr...	OMIM:607616
Harderoporphyria	Increased circulating ferritin concentration, Hepatomegaly, Prolonged neonatal jaundice, Splenome...	OMIM:618892
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Decreased prealbumin level, Type I diabetes mellitus, Abnormality of the endocrine system, Nephro...	ORPHA:37042
46,Xx Ovotesticular Disorder Of Sex Development	Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid...	ORPHA:2138
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Aminoaciduria, Hyperammonemia, Splenomegaly	ORPHA:664
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Hypoproteinemia, Abnormal lymphat...	ORPHA:90362
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h...	OMIM:614470
Spermatogenic Failure 28	Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul...	OMIM:618086
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Diabetes mell...	OMIM:612526
Nephrotic Syndrome, Type 11	Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,...	OMIM:616730
Liver Failure, Infantile, Transient	Hepatomegaly, 3-hydroxydicarboxylic aciduria, Microvesicular hepatic steatosis, Hyperbilirubinemi...	OMIM:613070
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Micropenis, Left ventricular hypertrophy, Hepatosplenomegaly, Hemolytic anemia, Acu...	OMIM:619487
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly	ORPHA:231393
Tyrosinemia Type 1	Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly	ORPHA:882
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ...	OMIM:228300
Cyclic Neutropenia	Cyclic neutropenia, Neutropenia	OMIM:162800
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Adrenal Hypoplasia, Congenital	Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub...	OMIM:300200
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,...	OMIM:613101
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Insulinoma	Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl...	ORPHA:97279
Perlman Syndrome	Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis	ORPHA:2849
Immunodeficiency 104	Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly	OMIM:608971
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ...	ORPHA:100024
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Glucose intolerance, Anemia, Splenomegaly	ORPHA:75563
Refractory Anemia With Excess Blasts	Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula...	ORPHA:86839
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Wilson Disease	Hepatomegaly, Glycosuria, Proteinuria, Portal fibrosis, Jaundice, Hypouricemia, Renal tubular dys...	OMIM:277900
Retinitis Pigmentosa	Hyperinsulinemia, Hypoplasia of penis, Type II diabetes mellitus, Hypogonadism	ORPHA:791
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi...	OMIM:614841
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen...	ORPHA:75564
Alg1-Cdg	Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia	ORPHA:79327
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin...	OMIM:614897
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, C...	OMIM:616828
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Cirrhosis, Hepatosplenomegaly, Hypoalbuminemia, Portal hypertension, Ascites	ORPHA:367
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Insulin resistance, Hepatic stea...	ORPHA:363400
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Hypoalbuminemia, Ascites	OMIM:226300
Immunodeficiency 43	Hypoalbuminemia, Hypoproteinemia	OMIM:241600
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo...	OMIM:619326
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni...	OMIM:619489
Autoimmune Lymphoproliferative Syndrome, Type Iii	Nephrotic syndrome, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenome...	OMIM:615559
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Hemochromatosis, Type 1	Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo...	OMIM:235200
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Leigh Syndrome With Nephrotic Syndrome	Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Hypoalbumin...	ORPHA:255249
Avian Influenza	Lymphopenia, Elevated circulating C-reactive protein concentration, Leukopenia, Elevated circulat...	ORPHA:454836
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:228312
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal ...	OMIM:616278
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei...	ORPHA:158057
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat...	OMIM:616217
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus	OMIM:616033
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly	ORPHA:79238
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy	ORPHA:66661
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy	OMIM:618852
Congenital Generalized Lipodystrophy	Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Cirrhosis, Increased C-peptide lev...	ORPHA:528
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia	ORPHA:329249
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglycemia, Hyperammonemia...	ORPHA:71212
Estrogen Resistance	Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance	OMIM:615363
Lead Poisoning	Infertility, Decreased male libido, Reduced sperm motility, Small for gestational age, Oligosperm...	ORPHA:330015
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism	OMIM:610539
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Male infertility, Absent vas deferens	OMIM:277180
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh...	OMIM:618841
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Cirrhosis, Hypoalbuminemia, Decreased circulating copper concentration, Decreased circulating cer...	OMIM:242150
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia	ORPHA:369873
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas...	OMIM:300635
Amyloidosis, Familial Visceral	Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria	OMIM:105200
Immunodeficiency 76	Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy	OMIM:619164
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia	OMIM:208920
S-Adenosylhomocysteine Hydrolase Deficiency	Hepatocellular carcinoma, Abnormal circulating methionine concentration, Elevated circulating cre...	ORPHA:88618
Bacterial Toxic-Shock Syndrome	Increased circulating myelocyte count, Hypocalcemia, Peritonitis, Abscess, Elevated circulating c...	ORPHA:36234
46,Xy Partial Gonadal Dysgenesis	Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h...	ORPHA:251510
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Wolfram Syndrome, Mitochondrial Form	Megaloblastic anemia, Sideroblastic anemia, Hydroureter, Hydronephrosis, Neutropenia, Thrombocyto...	OMIM:598500
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Cholestas...	OMIM:619658
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea...	OMIM:619375
Alpha-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J...	ORPHA:846
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Urinary bladder sphincter dysfunction, Elevated alpha-fetoprotein, Elevated circulating creatine ...	ORPHA:64753
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy...	OMIM:616689
Alpha-Heavy Chain Disease	Hypocalcemia, Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy	ORPHA:100025
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod...	OMIM:300908
Partial Androgen Insensitivity Syndrome	Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito...	ORPHA:90797
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc...	OMIM:613673
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level, Splenomegaly	OMIM:612126
Hepatocellular Carcinoma	Abnormality of the hepatic vasculature, Abnormality of the liver, Hepatomegaly, Hemobilia, Type I...	ORPHA:88673
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch...	OMIM:214900
Omenn Syndrome	Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym...	OMIM:603554
Trichohepatoenteric Syndrome 1	Hepatomegaly, Splenomegaly, Hypospadias, Cirrhosis, Cholestasis, Abnormality of the pancreas, Inc...	OMIM:222470
Ménétrier Disease	Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia	ORPHA:2494
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Adrenal calcification, Cirrhosis, Hypertriglyceridemia, Hypercholeste...	ORPHA:75234
Primary Sclerosing Cholangitis	Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Thyroiditis, Pancreatitis,...	ORPHA:171
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch...	OMIM:266200
Primary Biliary Cholangitis	Abnormality of the thyroid gland, Abnormal circulating lipid concentration, Cirrhosis, Hepatocell...	ORPHA:186
Myotonic Dystrophy 1	Cholelithiasis, Testicular atrophy, Hypogonadism	OMIM:160900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis...	OMIM:615631
Hemochromatosis, Type 2A	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotr...	OMIM:602390
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice	OMIM:224100
Multiple Endocrine Neoplasia Type 4	Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A...	ORPHA:276152
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased...	OMIM:615513
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ...	ORPHA:2585
Congenital Disorder Of Glycosylation, Type Ia	Nephrotic syndrome, Hepatomegaly, Hypergonadotropic hypogonadism, Hypothyroidism, Thrombocytosis,...	OMIM:212065
Donohue Syndrome	Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Cholestasis, Long penis, Pancre...	OMIM:246200
Acute Bilirubin Encephalopathy	Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Neonatal hyperbili...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Neonatal hyperbili...	ORPHA:529808
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie...	OMIM:619802
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hy...	OMIM:301078
Alstrom Syndrome	Chronic active hepatitis, Hepatomegaly, Nephritis, Hyperinsulinemia, Decreased response to growth...	OMIM:203800
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane...	OMIM:601859
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Nonspherocytic hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Normocytic ane...	OMIM:235700
Al Amyloidosis	Nephrotic syndrome, Hepatomegaly, Increased circulating NT-proBNP concentration, Proteinuria, Ren...	ORPHA:85443
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Increas...	OMIM:194380
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Thyroid lymphangiectasia, Intestinal lymphangiectasia, Horseshoe kidney, Ectopic kidney, Hydronep...	OMIM:235510
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Acute pancre...	ORPHA:79086
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Bilia...	ORPHA:1414
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice	ORPHA:172
Transient Neonatal Diabetes Mellitus	Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ...	ORPHA:99886
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:3085
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Amoebiasis Due To Entamoeba Histolytica	Leukocytosis, Hypoalbuminemia, Anemia, Lung abscess, Liver abscess	ORPHA:67
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Reduced serum alpha-1-antitrypsin, Splenomegaly	OMIM:613490
Spherocytosis, Type 4	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:612653
Combined Oxidative Phosphorylation Deficiency 37	Macrovesicular hepatic steatosis, Hypoglycemia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Bil...	OMIM:618329
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Renal insufficiency, Neutropenia, Anemi...	ORPHA:79312
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the ureter, Anemia, Ascites	ORPHA:1046
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis...	OMIM:185000
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli...	OMIM:121300
Griscelli Syndrome Type 2	Neutropenia, Hepatomegaly, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphade...	ORPHA:79477
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly	OMIM:611762
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod...	ORPHA:54251
Diarrhea 10, Protein-Losing Enteropathy Type	Hypomagnesemia, Hypocalcemia, Polyuria, Hypothyroidism, Hypertriglyceridemia, Hypoalbuminemia, Hy...	OMIM:618183
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Nephrotic syndrome, Leukopenia, Hepatosplenomegaly, Heparan sulfate excretion in urine, Enlarged ...	ORPHA:505248
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Immunodeficiency 91 And Hyperinflammation	Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Elevated circulating C-reactive...	OMIM:619644
Beta-Thalassemia Intermedia	Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,...	ORPHA:231222
Spherocytosis, Type 2	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi...	OMIM:616649
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Hypertri...	OMIM:613027
Abetalipoproteinemia	Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubinemia, Cirrhosis, R...	ORPHA:14
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi...	OMIM:182900
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi...	OMIM:618398
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem...	ORPHA:3202
Immunodeficiency 64	Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphade...	OMIM:618534
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Beta-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, A...	ORPHA:848
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Hepatic bridging fibrosis, Adrenal insufficiency, Splenomegaly, Cirrhosis, Decrease...	OMIM:278000
Bangstad Syndrome	Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp...	ORPHA:1227
Lymphoproliferative Syndrome 1	Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote...	OMIM:613011
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Hypoglycemi...	ORPHA:230
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Autoimmune thrombocytopenia, Mediastinal lymphadenopathy, Decreased proportion of C...	OMIM:300853
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Nephrotic syndrome, Coombs-positive hemolyt...	OMIM:603909
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ...	ORPHA:98848
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Hyperuricemi...	OMIM:617056
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen...	OMIM:607594
Symptomatic Form Of Hemochromatosis Type 1	Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona...	ORPHA:465508
Congenital Analbuminemia	Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia	ORPHA:86816
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Hyperlipidemia, Macroscopic hematuria, Focal segmental glomerulosclerosis...	ORPHA:567546
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise...	ORPHA:79301
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,...	ORPHA:3226
Alg12-Cdg	Micropenis, Hypospadias, B lymphocytopenia, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia, R...	ORPHA:79324
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypoalbuminemia,...	OMIM:619055
Lipodystrophy, Congenital Generalized, Type 4	Hyperinsulinemia, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration,...	OMIM:613327
Marburg Hemorrhagic Fever	Hypokalemia, Lymphopenia, Pancreatitis, Hyperammonemia, Leukopenia, Elevated circulating creatine...	ORPHA:99826
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubin...	OMIM:269920
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia...	OMIM:619041
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Apolipoprotein C-Ii Deficiency	Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration...	OMIM:207750
Lipodystrophy, Congenital Generalized, Type 1	Nephrolithiasis, Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Decreased serum leptin,...	OMIM:608594
Estrogen Resistance Syndrome	Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Absence of secondary sex ...	ORPHA:785
Lipodystrophy, Congenital Generalized, Type 2	Nephrolithiasis, Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Splenomegaly, Elevate...	OMIM:269700
Adult-Onset Still Disease	Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein c...	ORPHA:829
Erythrocytosis, Familial, 8	Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C...	OMIM:222800
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ...	OMIM:612840
Rabson-Mendenhall Syndrome	Increased circulating androgen concentration, Increased serum testosterone level, Postprandial hy...	ORPHA:769
Fish-Eye Disease	Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Follicular Lymphoma	Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly	ORPHA:545
Solute carrier family 4 (anion exchanger), member 1	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis...	OMIM:109270
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic fibrosis, Hepatomegaly, Splenomegaly	OMIM:616719
Mandibuloacral Dysplasia	Glucose intolerance, Hyperinsulinemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus,...	ORPHA:2457
Schnitzler Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy	ORPHA:37748
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Cirrhos...	ORPHA:90363
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Nephrotic syndrome, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Abscess...	OMIM:618935
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens	OMIM:300985
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin, Abnormal urinary color, Splenomegaly	ORPHA:90037
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre...	OMIM:157640
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly	OMIM:618042
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Increased serum pyruvate, Hyperprolinemia, Macrocytic anemia, Neonatal hypoglycemia...	OMIM:619046
Aarskog-Scott Syndrome	Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism...	OMIM:305400
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Abnormal circulating selenium concentration, Decreased serum iron, Decreased plasma carnitine, Hy...	ORPHA:89842
Galloway-Mowat Syndrome 3	Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chronic ki...	OMIM:617729
Lymphoproliferative Syndrome 2	Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ...	OMIM:615122
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Fanconi Anemia, Complementation Group V	Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia	OMIM:617243
Omenn Syndrome	Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte m...	ORPHA:39041
Mandibuloacral Dysplasia With Type B Lipodystrophy	Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyper...	OMIM:608612
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Lipodystrophy, Familial Partial, Type 2	Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Decreased HDL cholesterol concentratio...	OMIM:151660
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Cold Agglutinin Disease	Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Osteopetrosis, Autosomal Recessive 8	Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly	OMIM:615085
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Abnormality of ...	ORPHA:381
Glycogen Storage Disease Ib	Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate...	OMIM:232220
Wolman Disease	Adrenal insufficiency, Hepatomegaly, Splenomegaly, Adrenal calcification, Anemia, Bone-marrow foa...	ORPHA:75233
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Hyperbilirubinemia, S...	OMIM:224120
Immunodeficiency 54	Adrenal insufficiency, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadeno...	OMIM:609981
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia	ORPHA:158029
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Spontaneous hemolytic crises, Impa...	OMIM:613470
Relapsing Fever	Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, He...	ORPHA:91547
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ...	OMIM:619849
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Jaundice, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Ductal bile...	OMIM:617394
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Glucose intolerance, Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Choles...	OMIM:615630
Xfe Progeroid Syndrome	Renal insufficiency, Ascites, Proteinuria, Hypoalbuminemia	OMIM:610965
Cryohydrocytosis	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly	OMIM:185020
Immunodeficiency 32B	Splenomegaly	OMIM:226990
Juvenile Polyposis Syndrome	Anemia, Hypokalemia, Hypoalbuminemia	OMIM:174900
Primary Myelofibrosis	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm...	ORPHA:824
Glycogen Storage Disease Xii	Nonspherocytic hemolytic anemia, Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ...	OMIM:611881
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Osteopetrosis, Autosomal Dominant 3	Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
Leprechaunism	Postprandial hyperglycemia, Hyperinsulinemia, Hepatomegaly, Hypokalemia, Insulin resistance, Hype...	ORPHA:508
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex...	OMIM:602450
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:618495
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, I...	OMIM:601847
Hereditary Elliptocytosis	Cholelithiasis, Prolonged neonatal jaundice, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, ...	ORPHA:288
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:314050
46,Xx Sex Reversal 2	Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B...	OMIM:278850
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari...	OMIM:256550
Wolfram Syndrome 1	Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus	OMIM:222300
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Hepatomegaly, Aminoaciduria, Splenomegaly, Elevated circulating parathyroid hor...	OMIM:239200
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl...	OMIM:619381
Solitary Fibrous Tumor/Hemangiopericytoma	Neoplasm of the liver, Hypophosphatemic rickets, Hypoinsulinemia, Pelvic mass, Abnormality of the...	ORPHA:2126
Smith-Lemli-Opitz Syndrome	Elevated 7-dehydrocholesterol, Cholestatic liver disease, Hepatomegaly, Precocious puberty, Splen...	OMIM:270400

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