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Gene: Ipo7 MGI:2152414

Gene Summary

Name:

importin 7

Synonyms:

A330055O14Rik, Imp7, RanBP7

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
abnormal spleen morphology	Ipo7^em1(IMPC)Mbp	HET	Late adult	0.00
preweaning lethality, complete penetrance	Ipo7^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating triglyceride level	Ipo7^em1(IMPC)Mbp	HET	Early adult	2.26×10^-07
increased circulating insulin level	Ipo7^em1(IMPC)Mbp	HET	Early adult	6.52×10^-05
enlarged lymph nodes	Ipo7^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal eye morphology	Ipo7^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal skin morphology	Ipo7^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal eye morphology	Ipo7^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic lethality prior to organogenesis	Ipo7^em1(IMPC)Mbp	HOM	E9.5	0.00
enlarged spleen	Ipo7^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal skin morphology	Ipo7^em1(IMPC)Mbp	HET	Late adult	0.00
anophthalmia	Ipo7^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal urinary bladder morphology	Ipo7^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal lymph node morphology	Ipo7^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal trachea morphology	Ipo7^em1(IMPC)Mbp	HET	Late adult	0.00
increased circulating phosphate level	Ipo7^em1(IMPC)Mbp	HET	Early adult	2.74×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E9.5

Images

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Ipo7 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 Ipo7 (0 diseases)
Human diseases predicted to be associated with Ipo7 (809 diseases)

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

The table below shows human diseases predicted to be associated to Ipo7 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca...	OMIM:618883
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo...	OMIM:203330
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi...	OMIM:609968
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalce...	ORPHA:94090
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ...	ORPHA:79299
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Glycogen Storage Disease Vi	Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia	OMIM:232700
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo...	OMIM:603233
Blue Diaper Syndrome	Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating thyroid-stimulating h...	ORPHA:94086
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Decreased circulating...	OMIM:146200
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid...	ORPHA:2239
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri...	OMIM:610947
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Fish-Eye Disease	Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ...	OMIM:136120
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H...	OMIM:620211
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia, Elevated circulating parathyroid hormone level	OMIM:618618
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Decreased circulating parathyroid h...	OMIM:601198
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia	ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:256450
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi...	ORPHA:35878
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat...	OMIM:615703
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia	OMIM:601820
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin response to glucagon te...	ORPHA:324575
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Kerion Celsi	Lymphadenopathy	ORPHA:499
Lipase Deficiency, Combined	Type II diabetes mellitus, Hypertriglyceridemia	OMIM:246650
Insulinomatosis And Diabetes Mellitus	Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h...	OMIM:147630
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s...	OMIM:612462
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:436182
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl...	ORPHA:411593
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Plin1-Related Familial Partial Lipodystrophy	Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resistant diabetes mellitus...	ORPHA:280356
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul...	ORPHA:276575
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Decreased response to growth hormone stimulation test, Hypocalcemia, Congenita...	OMIM:241410
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Excessive insul...	ORPHA:276580
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Pseudohypoparathyroidism Type 1B	Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm...	ORPHA:94089
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100024
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Diabetes mellitus	OMIM:612526
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hypocalcemia, Hypocalcemic...	ORPHA:36913
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypogonadism, Hypocalcemic tet...	OMIM:103580
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia	OMIM:619073
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Calciphylaxis	Hyperphosphatemia, Secondary hyperparathyroidism	ORPHA:280062
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Glycogen Storage Disease Ixa1	Hypoglycemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia	OMIM:306000
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Trimethylaminuria	Anemia, Trimethylaminuria, Splenomegaly, Neutropenia	OMIM:602079
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Kimura Disease	Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Hypertriglyceridemia, Increased C-peptide level, Decreased serum lep...	OMIM:615238
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Parathyroid hyperplasia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo...	OMIM:617994
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Excessive insulin response to gluca...	ORPHA:276556
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia, Microphthalmia, Hypoparathyroidism	OMIM:127000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Tracheal stenosis, Tracheoesophageal fi...	ORPHA:93941
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia, Congenital hypoparathyroidism, Hypoparathyroidism, Aplasia/Hypop...	ORPHA:2323
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	OMIM:613877
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hypertrigly...	ORPHA:79085
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the liver, Decreased pr...	ORPHA:543
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemia, Hypophosphatemic rickets	OMIM:241520
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase	ORPHA:99845
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Diabetes mellitus	ORPHA:79084
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic...	ORPHA:71526
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia	ORPHA:329249
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Decreased proportio...	OMIM:300853
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Type II diabete...	OMIM:618620
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Cholesteryl Ester Storage Disease	Adrenal calcification, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Lipodystrophy, Familial Partial, Type 1	Hyperglycemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	OMIM:608600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperparathyroidism, Hypercalcemia, Hyperphosphatemia, Calcinosis	OMIM:211900
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h...	OMIM:619489
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen...	OMIM:619924
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia...	OMIM:619326
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Diabetes mellitus	OMIM:616033
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Pancreatic isle...	ORPHA:263455
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Bilateral microphthalmos, Hypocalcemic tetany, Abnormal circulating follicle-s...	ORPHA:93325
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Abnormally large globe, Insulin-...	ORPHA:2457
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Obesity And Hypopigmentation	Hyperinsulinemia	OMIM:620195
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia	OMIM:164180
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Anencephaly 2	Anophthalmia	OMIM:619452
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-...	ORPHA:552
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice	OMIM:620010
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentration, Elevated circu...	OMIM:101800
Hyperlipidemia, Familial Combined, 3	Increased LDL cholesterol concentration, Xanthelasma, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Congenital Respiratory-Biliary Fistula	Tracheal stenosis, Abnormality of the liver	ORPHA:2040
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Pseudohypoparathyroidism Type 1C	Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm...	ORPHA:79444
Familial Isolated Hyperparathyroidism	Elevated circulating parathyroid hormone level, Hypophosphatemia, Parathyroid adenoma, Hypercalce...	ORPHA:99879
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Galactokinase Deficiency	Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level of galactitol in plasma, Hy...	ORPHA:79237
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Glucose intolerance	ORPHA:369873
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia, Hypertriglyceridemia	ORPHA:363400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Amyloidosis, Hereditary Systemic 2	Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome	OMIM:105200
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia	OMIM:618987
Meckel Syndrome, Type 8	Anophthalmia, Microphthalmia	OMIM:613885
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Pa...	OMIM:612089
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ...	OMIM:616217
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:618495
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:37748
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin...	ORPHA:94093
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells	OMIM:620282
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Elevated ci...	ORPHA:435660
Pseudohypoparathyroidism Type 1A	Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm...	ORPHA:79443
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia	OMIM:608184
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Abnormal ci...	ORPHA:2298
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Congenital Generalized Lipodystrophy	Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Hypercholesterolemia, Hypert...	ORPHA:528
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,...	OMIM:121300
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Hypertr...	ORPHA:435651
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Congenital Toxoplasmosis	Ascites, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice	ORPHA:858
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatemic rickets, Increa...	ORPHA:157215
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Hypophosphatemic rickets, Glycosuria	OMIM:618913
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi...	OMIM:605814
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra...	OMIM:615558
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic an...	OMIM:603909
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Heme Oxygenase 1 Deficiency	Nephritis, Cervical lymphadenopathy, Hematuria, Proteinuria, Lymphadenopathy, Coombs-positive hem...	OMIM:614034
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester...	OMIM:615812
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Hypothyroidism, Hypopituitarism, Hypertriglyceridemia	OMIM:619013
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Temple Syndrome	Precocious puberty, Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglyceridemia	OMIM:616222
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:172
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism	ORPHA:3085
Estrogen Resistance	Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc...	OMIM:615363
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen...	OMIM:601859
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly	ORPHA:391
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Abnor...	ORPHA:71212
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Glycosuria, Hypophosphatemia, Fasting hypoglycemia, Hypertriglyceride...	ORPHA:2088
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate...	OMIM:616860
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Leishmaniasis	Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Lymphadenopathy, ...	ORPHA:507
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy...	ORPHA:277
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus	OMIM:616026
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hypertension...	ORPHA:824
Hemochromatosis, Type 2B	Hepatic fibrosis, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly	OMIM:613313
Perlman Syndrome	Hyperinsulinemia	ORPHA:2849
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia, Hypoglycemia	OMIM:605911
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia, Glycosuria	OMIM:308990
Glycogen Storage Disease Ixc	Hypoglycemia, Fasting hypoglycemia, Hypertriglyceridemia	OMIM:613027
Dent Disease 2	Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Trisomy 13	Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia	ORPHA:3378
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia, Anemia, Abnorm...	ORPHA:54251
Harderoporphyria	Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Hepatomegaly, Prolon...	OMIM:618892
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia	OMIM:603471
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Male hypogonadism, Diabetes mellitus, Hypertriglyceridemia	OMIM:615381
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat...	OMIM:207750
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice	OMIM:619868
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Tangier Disease	Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Tafro Syndrome	Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop...	ORPHA:457077
Anaplastic Thyroid Carcinoma	Laryngotracheal stenosis, Tracheoesophageal fistula, Lymphadenopathy	ORPHA:142
Reni Syndrome	Hypoalbuminemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypertriglyce...	OMIM:617575
Lcat Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole...	ORPHA:650
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:620603
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos...	OMIM:616828
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Cystinosis	Type I diabetes mellitus, Hypokalemia, Hypothyroidism, Hypophosphatemia, Delayed puberty, Nephrog...	ORPHA:213
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi...	OMIM:147250
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Microphthalmia With Brain And Digit Anomalies	Abnormality of the hypothalamus-pituitary axis, Anophthalmia, Microphthalmia	ORPHA:139471
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperuricemia, Maternal diabetes, Hypert...	ORPHA:79083
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm...	ORPHA:247598
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Splenomegaly, Hepatocellular carcinoma	OMIM:613490
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia	OMIM:620514
Seckel Syndrome 10	Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Glucose intoleran...	OMIM:617253
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Smith-Magenis Syndrome	Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Elevated circ...	OMIM:248250
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Citrullinemia Type Ii	Hypoalbuminemia, Decreased HDL cholesterol concentration, Delayed menarche, Hyperlipidemia, Acute...	ORPHA:247585
Desmoplastic Small Round Cell Tumor	Ascites, Anemia, Lymphadenopathy, Abnormal peritoneum morphology, Hepatomegaly, Mediastinal lymph...	ORPHA:83469
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Monocytosis, Lymphadenopathy, Membrano...	OMIM:619644
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulatin...	OMIM:615980
Dysbetalipoproteinemia	Increased LDL cholesterol concentration, Xanthelasma, Hypertriglyceridemia, Hypothyroidism, Hyper...	ORPHA:412
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath...	ORPHA:100026
Tularemia	Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat...	ORPHA:3392
Mpi-Cdg	Hypoalbuminemia, Hypothyroidism, Hyperinsulinemic hypoglycemia	ORPHA:79319
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Hurler-Scheie Syndrome	Heparan sulfate excretion in urine, Tracheal stenosis, Splenomegaly, Dermatan sulfate excretion i...	OMIM:607015
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Fanconi Renotubular Syndrome 2	Hypophosphatemia, Elevated circulating parathyroid hormone level, Glycosuria	OMIM:613388
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration...	ORPHA:79086
Hydrolethalus	Anophthalmia, Microphthalmia	ORPHA:2189
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Abnormal circulating calcium concentration, Hypophosphatemia, Decreased circulating parathyroid h...	OMIM:241530
Rhabdoid Tumor	Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia	ORPHA:69077
Nephroblastoma	Hematuria, Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Aggressive Systemic Mastocytosis	Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C...	ORPHA:98850
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ...	OMIM:618183
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Prolonged neonatal jaundice, Ly...	OMIM:257200
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia, Glycosuria	OMIM:134600
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Glycogen Storage Disease Iii	Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:232400
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl...	OMIM:608612
Walker-Warburg Syndrome	Abnormal circulating creatine kinase concentration, Anophthalmia, Microphthalmia	ORPHA:899
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ...	ORPHA:158057
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy...	ORPHA:39041
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Purine Nucleoside Phosphorylase Deficiency	Decreased urinary urate, Elevated urinary inosine level, Lymphopenia, Lymph node hypoplasia, Auto...	OMIM:613179
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc...	ORPHA:785
Fanconi-Bickel Syndrome	Hypouricemia, Postprandial hyperglycemia, Glycosuria, Hyperbilirubinemia, Increased serum bile ac...	OMIM:227810
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia, Hypocalcemic seiz...	OMIM:264700
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	OMIM:151660
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly	ORPHA:93476
Cholesteryl Ester Storage Disease	Adrenal calcification, Increased LDL cholesterol concentration, Adrenal insufficiency, Hypertrigl...	OMIM:278000
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter...	OMIM:617394
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria	ORPHA:2089
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro...	OMIM:603554
Cockayne Syndrome Type 2	Male hypogonadism, Anophthalmia	ORPHA:90322
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:89937
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Diabetes mellitus, Hypertriglyceridemia	ORPHA:2348
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Castleman Disease	Mediastinal lymphadenopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, H...	ORPHA:160
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Donohue Syndrome	Precocious puberty, Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Pancreatic islet...	OMIM:246200
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Microphthalmia	ORPHA:77298
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Hypophosphatemia, Elevated circulating parathyroid ho...	OMIM:307800
Hemorrhagic Fever-Renal Syndrome	Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia	ORPHA:340
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Lymphadenopathy, Thrombocytopenia	ORPHA:83313
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Roifman Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy	OMIM:616651
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Smith-Magenis Syndrome	Precocious puberty, Hypothyroidism, Delayed puberty, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ...	OMIM:615234
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Immunodeficiency 10	Autoimmune hemolytic anemia, Splenomegaly, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega...	OMIM:612783
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Steatorrhea	OMIM:602579
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Hyperparathyroidism, Neonatal Severe	Elevated circulating parathyroid hormone level, Hypophosphatemia, Calcinosis, Hypercalcemia, Prim...	OMIM:239200
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Hyperli...	OMIM:615947
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Decrease...	ORPHA:85450
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia, Elevated circulating parathyroid hormone level, Secondar...	OMIM:277440
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No...	OMIM:613470
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop...	ORPHA:300373
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Increased circulating ferritin concentration	OMIM:618398
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Anemia, Thromboc...	ORPHA:848
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypoplasia of the thymus, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret...	OMIM:194380
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti...	OMIM:266200
Rabson-Mendenhall Syndrome	Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me...	ORPHA:769
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Elevated circulating creatine kinase concentration, Hyperinsulinemia, Hypertr...	OMIM:613327
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Trisomy 1Q	Anophthalmia	ORPHA:261344
Scrub Typhus	Splenomegaly, Renal insufficiency, Lymphadenopathy	ORPHA:83317
Matthew-Wood Syndrome	Anophthalmia, Microphthalmia	ORPHA:2470
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Hypocalcemia	OMIM:600081
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Recurrent hypoglycemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia,...	ORPHA:79240
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly...	ORPHA:79456
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Cockayne Syndrome Type 1	Male hypogonadism, Increased blood urea nitrogen, Anophthalmia	ORPHA:90321
Chronic Granulomatous Disease	Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Abnormality of neutrophils, Mediastinal ly...	ORPHA:379
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia...	ORPHA:158061
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp...	OMIM:603903
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Decreased FOXP3-expressing T cell count, Anemia, Eosinophilia, Glomerulonephritis, Neu...	OMIM:304790
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes...	OMIM:248370
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Werner Syndrome	Hypogonadism, Elevated hemoglobin A1c, Diabetes mellitus, Hypertriglyceridemia	OMIM:277700
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype...	ORPHA:98855
Cryoglobulinemic Vasculitis	Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Hepatomegaly...	ORPHA:91138
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat...	OMIM:603553
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Hypophosphatemia, Hypocalcemia	ORPHA:93160
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly	OMIM:616589
Cinca Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Abnormality of neutrophils, Ab...	ORPHA:1451
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Ly...	ORPHA:2686
Xp21 Deletion Syndrome	Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulating creatine kinase concen...	ORPHA:261476
Mccune-Albright Syndrome	Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent...	ORPHA:562
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color	ORPHA:90037
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria...	ORPHA:549
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Primary hyperparathyroidism	OMIM:600740
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper...	OMIM:203800
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Hyperlipidemia, Hypoglycemia	ORPHA:369
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype...	ORPHA:98863
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype...	ORPHA:98853
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne...	OMIM:226990
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:47612
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Proteinuria, Anemia, Generali...	ORPHA:829
Wolman Disease	Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells	ORPHA:75233
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hyperlipidemia	OMIM:603278
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Hyperlipoproteinemia, Type I	Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester...	OMIM:238600
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc...	OMIM:618048
Holoprosencephaly	Hypoglycemia, Panhypopituitarism, Anophthalmia, Hyponatremia, Microphthalmia, Diabetes insipidus,...	ORPHA:2162
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypoglycemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Delayed p...	ORPHA:264580
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Urinary retention, Absence of lymph node germinal center,...	ORPHA:79124
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Prader-Willi Syndrome	Precocious puberty, Decreased HDL cholesterol concentration, Decreased response to growth hormone...	OMIM:176270
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Hypocomplementemic Urticarial Vasculitis	Ascites, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Lymphadenopathy, Hepatomegaly	ORPHA:36412
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Insulin resistance, Decreased adiponectin level, Hypertriglyceridemia, Decreased HDL cholesterol ...	ORPHA:280365
Familial Chylomicronemia Syndrome	Diabetes mellitus, Hyperlipidemia, Increased circulating chylomicron concentration, Hypertriglyce...	ORPHA:444490
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Oliguria, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L...	ORPHA:514
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Hypocalcemic Vitamin D-Dependent Rickets	Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia, Hypocalcemic seiz...	ORPHA:289157
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, ...	ORPHA:540
Mounier-Kühn Syndrome	Tracheal stenosis	ORPHA:3347
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Reactive hypoglycemia, Hyperuricemia	ORPHA:469
Tracheal Agenesis	Tracheal atresia	ORPHA:3346
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hypophosphatemia, Hypercalcemia	OMIM:156400
Juvenile Nephropathic Cystinosis	Hypouricemia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp...	ORPHA:411634
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Anophthalmia, Microphthalmia	OMIM:615877
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly	OMIM:235555
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Postprandial hyperglycemia, Graves disease, Hypomagnesemia, Hyperthyroidism...	ORPHA:79102
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm...	ORPHA:3464
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Fibrous Dysplasia Of Bone	Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Hyperpitu...	ORPHA:249
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Tracheal stenosis, Abnormality of the g...	ORPHA:887
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Lymphadenopathy, Hepatomegaly, Hypoplasia of penis	ORPHA:99812
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Lymphadenitis, Cholestasis, Vesicoureteral reflux, Leukocytosis, Splenomegaly, ...	OMIM:615895
Beta-Thalassemia Intermedia	Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ...	ORPHA:231222
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233710
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Renal insufficiency,...	OMIM:263200
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, ...	OMIM:206900
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio...	OMIM:606367
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Neoplasm of the thymus, Chronic noninfectious lymphadenopathy, Pancreati...	ORPHA:97289
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemia, Hypophosphatemic rickets	OMIM:300554
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Elevated urine mevalonic acid level, ...	OMIM:610377
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome...	OMIM:607765
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve...	OMIM:260920
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233690
Budd-Chiari Syndrome	Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly	OMIM:617591
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Generalized lymphadenopathy, Decreased p...	OMIM:614700
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Hypophosph...	ORPHA:3337
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ...	OMIM:613812
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Methanol Poisoning	Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia	ORPHA:31825
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Ja...	ORPHA:90033
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Tracheal stenosis, Hypoplasia of penis	OMIM:601427
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Adrenal hypoplasia, Anterior pituitary hypoplasia, Diabetes in...	ORPHA:264200
Mixed Connective Tissue Disease	Nephropathy, Hemolytic anemia, Leukopenia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastin...	ORPHA:809
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu...	ORPHA:77259
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Tracheal atresia	OMIM:601612
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra...	OMIM:214500
Pediatric Systemic Lupus Erythematosus	Nephritis, Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Dark urine, Renal...	ORPHA:93552
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Decreased ...	ORPHA:470
Infantile Nephropathic Cystinosis	Glycosuria, Abnormality of thyroid physiology, Hypokalemia, Hypophosphatemia, Abnormal blood ion ...	ORPHA:411629
Dent Disease 1	Hypophosphatemia, Glycosuria	OMIM:300009
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:294
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypogonadism, Anophthalmia, Microphthalmia	ORPHA:2250
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Lymphadenopathy, Neutropenia, Thrombocytopenia...	ORPHA:520
Familial Pancreatic Carcinoma	Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg...	ORPHA:1333
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Increased B cell count, Absent peripheral lymph nodes in presence of infe...	ORPHA:98813
Atelis Syndrome 2	Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia	OMIM:620185
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Lymphangioma, Abnormal lymphatic vessel morphology, Abnormality of the lympha...	ORPHA:464329
Spondyloepimetaphyseal Dysplasia, Shohat Type	Tracheal stenosis, Hepatosplenomegaly	ORPHA:93352
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Renal insufficiency, Eosinophilia, Lymphocytosis, Lymphadenopathy, Tubulointerstitial ...	ORPHA:139402
Gaisböck Syndrome	Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Diabetes mellitus, I...	ORPHA:90041
Pendred Syndrome	Nephropathy, Tracheal stenosis	ORPHA:705
Lipodystrophy, Congenital Generalized, Type 1	Decreased serum leptin, Hyperinsulinemia, Hypertriglyceridemia, Diabetes mellitus, Insulin-resist...	OMIM:608594
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Xanthelasma, Primary adrenal insufficiency, Hyponatremia, Hypercholesterol...	ORPHA:275761
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice	OMIM:618641
Lipodystrophy, Congenital Generalized, Type 2	Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Insul...	OMIM:269700
H Syndrome	Hypogonadism, Delayed puberty, Diabetes mellitus, Hypertriglyceridemia	ORPHA:168569
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:230800
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypothyroidism, Hypoproteinemia	OMIM:256300
Vacterl With Hydrocephalus	Anophthalmia, Microphthalmia	ORPHA:3412
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:791
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, D...	ORPHA:79259
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia	ORPHA:1101
Acute Generalized Exanthematous Pustulosis	Cholestasis, Renal insufficiency, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutr...	ORPHA:293173
Neutral Lipid Storage Disease With Myopathy	Elevated circulating creatine kinase concentration, Diabetes mellitus, Hypertriglyceridemia	OMIM:610717
Fibular Hemimelia	Anophthalmia	ORPHA:93323
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Hema...	ORPHA:2035
Cystinosis, Nephropathic	Male hypogonadism, Decreased circulating carnitine concentration, Glycosuria, Hypomagnesemia, Hyp...	OMIM:219800
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina...	ORPHA:189427
Microtriplication 11Q24.1	Hyperlipidemia	ORPHA:289522
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa...	OMIM:619418
Pearson Syndrome	Glycosuria, Hypomagnesemia, Decreased response to growth hormone stimulation test, Adrenal insuff...	ORPHA:699
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Hyperparathyroidism-Jaw Tumor Syndrome	Elevated circulating parathyroid hormone level, Abnormal parathyroid morphology, Thyroid carcinom...	ORPHA:99880
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper...	ORPHA:508
Neutral Lipid Storage Disease With Ichthyosis	Abnormal circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:98907
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia	OMIM:617099
Parathyroid Carcinoma	Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Abnormal parathyroid morph...	ORPHA:143
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypercalcemia, Precocious puberty, Hypertriglyceridemia	ORPHA:369837
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp...	ORPHA:534
Waldenström Macroglobulinemia	Normocytic anemia, Renal insufficiency, Splenomegaly, Hepatomegaly, Lymphadenopathy, Leukemia, Ab...	ORPHA:33226
Jung Syndrome	Tracheal stenosis	ORPHA:2321
Common Variable Immunodeficiency	Lymphopenia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia...	ORPHA:1572
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, ...	OMIM:306400
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe...	OMIM:607626
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia	OMIM:104200
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ...	OMIM:602782
Q Fever	Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Cholecystitis, Splenomegaly, Hematuria, ...	ORPHA:781
Fructose Intolerance, Hereditary	Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia	OMIM:229600
Carcinoid Syndrome	Hepatic necrosis, Chronic noninfectious lymphadenopathy	ORPHA:100093
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte...	ORPHA:100086
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, B lymphocytopenia, Enteroviral hepatitis, Neutropenia, Anemia, T lymphocyt...	OMIM:300755
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, Anemia, Lymph...	ORPHA:50918
Glycerol Kinase Deficiency	Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Hypertriglyceridemia, Hyperglycer...	OMIM:307030
Poems Syndrome	Visceromegaly, Polycythemia, Ascites, Splenomegaly, Lymphadenopathy, Thrombocytosis, Hepatomegaly	ORPHA:2905
Atypical Werner Syndrome	Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abnormal circulating l...	ORPHA:79474
Classical-Like Ehlers-Danlos Syndrome Type 2	Diabetes mellitus, Hypertriglyceridemia	ORPHA:536532
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,...	OMIM:600802
Neuroblastoma	Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Elevated urinary cate...	ORPHA:635
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Microphthalmia	ORPHA:2538
Gray Platelet Syndrome	Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia	OMIM:139090
Multiple Myeloma	Nephropathy, Acute kidney injury, Splenomegaly, Lymphadenopathy, Anemia, Nephrotic syndrome	ORPHA:29073
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Graft Versus Host Disease	Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Chronic hepatitis, Acute hepatitis, Jaundice	ORPHA:39812
Neutral Lipid Storage Myopathy	Abnormal circulating creatine kinase concentration, Pineal cyst, Diabetes mellitus, Hypertriglyce...	ORPHA:98908
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop...	OMIM:615934
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Hepatomegaly, Decreased erythrocy...	OMIM:611881
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Microphthalmia	ORPHA:2526
Lmna-Related Cardiocutaneous Progeria Syndrome	Pulmonary carcinoid tumor, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto...	OMIM:615688
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Chédiak-Higashi Syndrome	Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:167
Meckel Syndrome	Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia	ORPHA:564
Farber Disease	Hepatic fibrosis, Ascites, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic ch...	ORPHA:333
Holoprosencephaly 9	Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit...	OMIM:610829
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Carney Triad	Ascites, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Isolated Biliary Atresia	Periportal fibrosis, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged neonatal jaundice,...	ORPHA:30391
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperlipidemia...	ORPHA:77293
Microcephaly 30, Primary, Autosomal Recessive	Tracheal stenosis	OMIM:620183
Primary Hepatic Neuroendocrine Carcinoma	Ascites, Chronic noninfectious lymphadenopathy, Hepatic cysts, Intermittent jaundice, Biliary tra...	ORPHA:100085
Hemophagocytic Syndrome Associated With An Infection	Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:158048
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreatitis, Lymp...	ORPHA:499009
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hepatitis, Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemia, Membranous nephropa...	ORPHA:37042
Steinert Myotonic Dystrophy	Insulin resistance, Male hypogonadism, Decreased response to growth hormone stimulation test, Dec...	ORPHA:273
Immunodeficiency 31C	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Impaired lymphocyte tran...	OMIM:614162
Charge Syndrome	Anophthalmia, Hypogonadotropic hypogonadism, Abnormality of the adrenal glands, Delayed puberty, ...	ORPHA:138
Igg4-Related Kidney Disease	Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Tubu...	ORPHA:449395
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Ascites, Leukocytosis, Splenomegaly, Proteinuria, Peritonitis, Pan...	ORPHA:342
Tracheobronchopathia Osteochondroplastica	Tracheal stenosis	ORPHA:3348
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Keutel Syndrome	Tracheal atresia	ORPHA:85202
Raine Syndrome	Hypophosphatemia	OMIM:259775
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Microphthalmia	ORPHA:2556
Charge Syndrome	Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st...	OMIM:214800
Tangier Disease	Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Orange d...	ORPHA:31150
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo...	OMIM:617718
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit...	OMIM:232220
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Joubert Syndrome 21	Anophthalmia	OMIM:615636
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h...	ORPHA:567983
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Co...	ORPHA:83471
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Cholestasis, Leukocytosis, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:620233
Microphthalmia, Syndromic 2	Adrenal insufficiency, Hypothyroidism, Anophthalmia, Microphthalmia	OMIM:300166
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Dent Disease	Renal hypophosphatemia, Glycosuria, Elevated circulating creatine kinase concentration	ORPHA:1652
Fraser Syndrome 1	Abnormal thymus morphology, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Hennekam Syndrome	Horseshoe kidney, Lymphopenia, Ascites, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia...	ORPHA:2136
Tetraamelia-Multiple Malformations Syndrome	Tracheal stenosis, Multicystic kidney dysplasia	ORPHA:3301
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free...	ORPHA:157
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Type I diabetes mellitus, Glucose intolerance, Hypercholesterolemia, Hypertri...	OMIM:606721
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Tracheal stenosis, Sclerosing cholangitis, Retroperitoneal fibrosis	ORPHA:64744
Lymphangioleiomyomatosis	Abnormal urinary color, Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic sys...	ORPHA:538
19P13.12 Microdeletion Syndrome	Precocious puberty, Hypothyroidism, Hyperlipidemia	ORPHA:254346
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Hypokalemia, Hypertriglyceridemia	OMIM:619573
Glycogen Storage Disease Ia	Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Delayed puberty, Fasting hypoglycemia	OMIM:232200
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Tracheal stenosis, Hypospadias	OMIM:217980
Geleophysic Dysplasia 3	Hepatomegaly, Tracheal stenosis	OMIM:617809
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia	ORPHA:199276
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus	ORPHA:439232
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Anemia, Tracheal stenosis	ORPHA:2637
Proboscis Lateralis	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	ORPHA:141099
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Tubulointerstitial fibrosis, Lymphadenopathy, Neutropenia, Autoim...	OMIM:607944
Malakoplakia	Urinary bladder inflammation, Urinary hesitancy, Follicular hyperplasia, Hematuria, Proteinuria, ...	ORPHA:556
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis, Tracheal stenosis	OMIM:302960
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly	OMIM:231005
Cartilage-Hair Hypoplasia	Tracheal stenosis, Anemia, Mucopolysacchariduria, Neutropenia, Hepatomegaly, Abnormality of the p...	ORPHA:175
Tyrosinemia, Type I	Nephrocalcinosis, Elevated urinary succinylacetone level, Ascites, Renal insufficiency, Splenomeg...	OMIM:276700
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Decreased H...	OMIM:256040
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hypoketotic hypoglycemia, Decreased plasma free...	ORPHA:228308
Hypomandibular Faciocranial Dysostosis	Tracheal stenosis	ORPHA:1790
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin resistance, Delayed puberty, Hyperlipidemia, Calcinosis	ORPHA:90154
Focal Dermal Hypoplasia	Aniridia, Anophthalmia, Microphthalmia	OMIM:305600
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hemoglobin A1c, Glucose intolerance, Hypertriglyceridemia	OMIM:619127
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Tracheal stenosis, Absent gallbladder, Hydronephrosis, Anemia, Thrombocytopenia, Micropenis, Hypo...	ORPHA:163979
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Decreased proportion of CD8-positive...	ORPHA:331235
Bardet-Biedl Syndrome	Insulin resistance, Decreased HDL cholesterol concentration, Hypogonadism, Impaired fasting gluco...	ORPHA:110
Microphthalmia, Syndromic 6	Anterior hypopituitarism, Anophthalmia, Hypothyroidism, Adrenal hypoplasia, Microphthalmia, Femal...	OMIM:607932
Craniofacioskeletal Syndrome	Hydronephrosis, Tracheal stenosis, Hypospadias, Absent gallbladder	OMIM:300712
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc...	OMIM:241080
Alagille Syndrome 1	Hypercholesterolemia, Papillary thyroid carcinoma, Hypertriglyceridemia	OMIM:118450
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Chronic hepatitis, Leukocytosis, S...	ORPHA:3260
Microphthalmia With Limb Anomalies	True anophthalmia, Microphthalmia	ORPHA:1106
Fraser Syndrome 3	Tracheal atresia, Ureteral agenesis, Hypoplasia of penis, Ascites	OMIM:617667
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H...	OMIM:619991
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Splenomegaly, Peritonitis, Leukocytosis, Lymphadenopathy	ORPHA:32960
Igg4-Related Submandibular Gland Disease	Abnormal pancreas morphology, Renal insufficiency, Eosinophilia, Lymphadenopathy, Cholangitis, Re...	ORPHA:449432
Turner Syndrome Due To Structural X Chromosome Anomalies	Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri...	ORPHA:99413
Mosaic Monosomy X	Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri...	ORPHA:99228
Monosomy X	Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri...	ORPHA:99226
Turner Syndrome	Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroiditis, High uri...	ORPHA:881
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Increased circulating prolactin concentration, Decreased response to growt...	ORPHA:3455
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Brachytelephalangic Chondrodysplasia Punctata	Tracheal stenosis	ORPHA:79345
Granulomatosis With Polyangiitis	Tracheal stenosis, Granulomatosis	OMIM:608710
Coccidioidomycosis	Abnormality of the spleen, Abnormality of the liver, Renal insufficiency, Peritonitis, Eosinophil...	ORPHA:228123
Ileal Neuroendocrine Tumor	Hydronephrosis, Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis	ORPHA:100078
Brucellosis	Hypersplenism, Abnormality of the liver, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytosis, ...	ORPHA:1304
Autosomal Recessive Malignant Osteopetrosis	Hypophosphatemia, Hypocalcemia	ORPHA:667
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Hypophosphatemic rickets	ORPHA:289176
Fraser Syndrome	Anophthalmia, Microphthalmia	ORPHA:2052
Aicardi-Goutieres Syndrome 7	Hepatitis, Pancytopenia, Hepatic steatosis, Splenomegaly, Anemia, Generalized lymphadenopathy, Th...	OMIM:615846
Schimke Immuno-Osseous Dysplasia	Abnormality of thyroid physiology, Hyperlipidemia	ORPHA:1830
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Tracheal stenosis, Abnormality of the gallbladder, Ureteropelvic ju...	ORPHA:818
Sarcoidosis	Nephrocalcinosis, Abnormal lymph node morphology, Leukopenia, Renal insufficiency, Portal hyperte...	ORPHA:797
Geleophysic Dysplasia 1	Hepatomegaly, Laryngotracheal stenosis, Tracheal stenosis	OMIM:231050
Wiedemann-Rautenstrauch Syndrome	Hypoplasia of the thymus, Increased serum testosterone level, Hypertriglyceridemia	OMIM:264090
Hydrolethalus Syndrome 1	Hydronephrosis, Tracheal stenosis, Hypospadias, Accessory spleen	OMIM:236680
Branchiooculofacial Syndrome	Ectopic thymus tissue, Anophthalmia, Microphthalmia	OMIM:113620
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia	ORPHA:90153
Crimean-Congo Hemorrhagic Fever	Ascites, Pancytopenia, Leukopenia, Leukocytosis, Cholecystitis, Splenomegaly, Hematuria, Proteinu...	ORPHA:99827
Systemic Lupus Erythematosus	Leukopenia, Hematuria, Proteinuria, Lupus nephritis, Lymphadenopathy, Thrombocytopenia, Hemolytic...	ORPHA:536
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T cells, Follicular h...	OMIM:619381
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Chronic active hepatitis, Lymphopenia, Leukopenia, Decrease...	ORPHA:289390
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Splenomegaly, Hypercalciuria, Generalized lymphadenopathy, Hepatomegaly, Mediastina...	OMIM:181000
Aromatase Deficiency	Insulin resistance, Type II diabetes mellitus, Hyperlipidemia, Hypergonadotropic hypogonadism	ORPHA:91
Glycogen Storage Disease Ic	Hypoglycemia, Xanthelasma, Hyperlipidemia, Hyperuricemia, Delayed puberty	OMIM:232240
Blau Syndrome	Nephropathy, Abnormality of the liver, Stage 5 chronic kidney disease, Splenomegaly, Lymphadenopa...	ORPHA:90340
Behçet Disease	Splenomegaly, Pancreatitis, Renal insufficiency, Lymphadenopathy	ORPHA:117
Frontometaphyseal Dysplasia 2	Tracheal stenosis, Neurogenic bladder	OMIM:617137
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr...	ORPHA:293987
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Larsen Syndrome	Tracheal stenosis	OMIM:150250
Leptospirosis	Acute kidney injury, Hepatitis, Cellular urinary casts, Lymphadenopathy, Thrombocytopenia, Hepato...	ORPHA:509
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatine kinase concentration	ORPHA:565612
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Lymphadenopathy, Thrombocytopenia, Retroperitoneal fibrosis	ORPHA:79078
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Igg4-Related Ophthalmic Disease	Eosinophilia, Pancreatitis, Lymphadenopathy, Cholangitis, Retroperitoneal fibrosis	ORPHA:449563
Alström Syndrome	Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo...	ORPHA:64
African Trypanosomiasis	Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Hepatomegaly, Lymphadenopathy, Urinary inc...	ORPHA:3385
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Increased urinary cortisol level, Lymphopenia, Pancreatic adenoca...	ORPHA:99889
Fabry Disease	Diabetes insipidus, Delayed puberty, Hyperlipidemia, Abnormal circulating lipid concentration	ORPHA:324
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Multicystic kidney dysplasia, Tracheal stenosis, Vesicoureteral reflux, Hydronephro...	ORPHA:261537
Craniofacial Microsomia 1	Anophthalmia, Microphthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Anophthalmia, Microphthalmia	OMIM:309800
Mowat-Wilson Syndrome	Webbed penis, Multicystic kidney dysplasia, Tracheal stenosis, Vesicoureteral reflux, Hydronephro...	ORPHA:2152
Pmm2-Cdg	Hypoalbuminemia, Insulin resistance, Elevated circulating thyroid-stimulating hormone concentrati...	ORPHA:79318
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Tracheal stenosis, Vesic...	ORPHA:261552
Leukocyte Adhesion Deficiency	Hyperinsulinemic hypoglycemia	ORPHA:2968
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:391665

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ipo7

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ipo7.

No publications found that use IMPC mice or data for Ipo7.

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MGI Allele	Allele Type	Produced
Ipo7^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ipo7 MGI:2152414

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E9.5

X-ray

X-ray

X-ray

Human diseases caused by Ipo7 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data