Gene: Duox2 MGI:3036280

Gene Summary

Name:

dual oxidase 2

Synonyms:

A430065P05Rik

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 kidney morphology	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating total protein level	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.03×10^-07
decreased prepulse inhibition	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
small liver	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased neutrophil cell number	Duox2^em1(IMPC)Mbp	HOM	Early adult	1.57×10^-07
small kidney	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased heart weight	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.99×10^-08
increased circulating serum albumin level	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.26×10^-06
increased freezing behavior	Duox2^em1(IMPC)Mbp	HOM	Early adult	5.68×10^-33
female infertility	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating cholesterol level	Duox2^em1(IMPC)Mbp	HOM	Early adult	1.36×10^-22
decreased exploration in new environment	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.97×10^-05
decreased lymphocyte cell number	Duox2^em1(IMPC)Mbp	HOM	Early adult	3.42×10^-05
small spleen	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased fasting circulating glucose level	Duox2^em1(IMPC)Mbp	HOM	Early adult	4.06×10^-06
increased circulating calcium level	Duox2^em1(IMPC)Mbp	HOM	Early adult	7.51×10^-05
increased mean corpuscular volume	Duox2^em1(IMPC)Mbp	HOM	Early adult	5.27×10^-09
increased circulating creatinine level	Duox2^em1(IMPC)Mbp	HOM	Early adult	1.64×10^-07
small heart	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal lymph node morphology	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Duox2 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 Duox2 (3 diseases)
Human diseases predicted to be associated with Duox2 (1407 diseases)

The table below shows human diseases associated to Duox2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Familial Thyroid Dyshormonogenesis	Increased radioactive iodine uptake, Goiter, Delayed proximal femoral epiphyseal ossification, De...	ORPHA:95716
Thyroid Dyshormonogenesis 6	Hypothyroidism, Congenital hypothyroidism	OMIM:607200
Genetic Transient Congenital Hypothyroidism	Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test result, Elevated ...	ORPHA:226316

The table below shows human diseases predicted to be associated to Duox2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Epiphyseal stippling, Goiter, Impaired sensitivity to thyroid hormone, Hearing impairment, Small ...	OMIM:274300
Pendred Syndrome	Compensated hypothyroidism, Goiter, Cochlear malformation, Vestibular dysfunction, Thyroid carcin...	OMIM:274600
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Goiter, Weight loss, Activating thyroid-stimulating hormone receptor defect, Small for gestationa...	ORPHA:424
Hyperthyroidism, Nonautoimmune	Small for gestational age, Goiter, Hyperthyroidism, Thyroid hyperplasia	OMIM:609152
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypochromia, Azoospermia, Hepatomegaly, Hypogonadis...	OMIM:615234
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Goiter, Thyroid carcinoma	OMIM:274700
Familial Gestational Hyperthyroidism	Goiter, Weight loss, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with ...	ORPHA:99819
Fetal Iodine Deficiency Disorder	Hearing impairment, Congenital hypothyroidism, Congenital goiter	OMIM:228355
Sickle Cell Anemia	Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a...	ORPHA:232
Apolipoprotein A-I Deficiency	Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade...	ORPHA:425
Familial Thyroid Dyshormonogenesis	Increased radioactive iodine uptake, Goiter, Delayed proximal femoral epiphyseal ossification, De...	ORPHA:95716
Rhabdoid Tumor	Hematuria, Neoplasm of the liver, Thrombocytopenia, Irritability, Hypercalcemia, Anemia, Lymphade...	ORPHA:69077
Multiple Myeloma	Acute kidney injury, Elevated circulating creatinine concentration, Nephropathy, Hyperproteinemia...	ORPHA:29073
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Impaired sensitivity to thyroid hormone, Goiter, Increased circulating free T3	OMIM:188570
Pendred Syndrome	Hypoplasia of the cochlea, Vertigo, Goiter, Hypothyroidism, Enlarged vestibular aqueduct, Sensori...	ORPHA:705
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili...	OMIM:616689
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Primary amenorrhea, He...	OMIM:612526
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hypochromia, Cirrhosis, Elevated hepatic transamina...	OMIM:616860
Pituitary Dwarfism With Large Sella Turcica	Hypothyroidism, Decreased response to growth hormone stimuation test	OMIM:262710
Dehydrated Hereditary Stomatocytosis	Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit...	ORPHA:3202
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism	Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimuation test	OMIM:300123
Glycogen Storage Disease Vi	Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ...	OMIM:232700
Retinohepatoendocrinologic Syndrome	Infertility, Hypothyroidism, Maturity-onset diabetes of the young, Optic disc pallor	OMIM:268040
Hepatic Venoocclusive Disease With Immunodeficiency	Endocardial fibrosis, Absence of lymph node germinal center, Abnormality of the liver	OMIM:235550
Thyroid Dyshormonogenesis 2A	Hypothyroidism, Goiter, Thyroid defect in oxidation and organification of iodide	OMIM:274500
Congenital Disorder Of Glycosylation, Type Iio	Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ...	OMIM:616828
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor...	OMIM:206000
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin...	ORPHA:99886
Fetal Iodine Syndrome	Hypothyroidism, Sensorineural hearing impairment	ORPHA:1910
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr...	OMIM:267700
Multiple Endocrine Neoplasia, Type Iia	Increased circulating cortisol level, Pheochromocytoma, Aganglionic megacolon, Thyroid C cell hyp...	OMIM:171400
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Omenn Syndrome	Severe B lymphocytopenia, Hypoproteinemia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the t...	OMIM:603554
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid...	OMIM:306000
Fetal Cytomegalovirus Syndrome	Hepatomegaly, Anemia, Splenomegaly	ORPHA:294
Wolfram-Like Syndrome	Male hypogonadism, Hypothyroidism, Abnormality of the pinna, Delayed puberty, Optic atrophy, Diab...	ORPHA:411590
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum	Goiter, Agenesis of corpus callosum, Primary hypothyroidism	OMIM:225040
Thyroid Cancer, Nonmedullary, 1	Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma	OMIM:188550
Ciliary Dyskinesia, Primary, 37	Infertility, Hypothyroidism, Hearing impairment, Goiter	OMIM:617577
Alpha-Heavy Chain Disease	Hypocalcemia, Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymph...	ORPHA:100025
Hyperthyroxinemia, Familial Dysalbuminemic	Euthyroid hyperthyroxinemia, Increased circulating free T4 level	OMIM:615999
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Dementia, Splenomegaly	ORPHA:2274
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Goiter, Decreased circulating T4 level, Absent ossification of capital femoral epiphysis, Elevate...	ORPHA:226313
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Recurrent fractures, Follicular thyroid carcinoma, Papillary thyroid carc...	ORPHA:319487
Hemochromatosis, Type 2B	Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Elevate...	OMIM:613313
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Hypercalcemia, Abnormality of the lymph nodes	ORPHA:33111
Morbid Obesity And Spermatogenic Failure	Hypercholesterolemia, Infertility, Azoospermia, Oligospermia, Insulin resistance, Hepatic steatos...	OMIM:615703
Congenital Atransferrinemia	Hypothyroidism, Arthritis	ORPHA:1195
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Pheochromocytoma, Thyroid follicular hyperplas...	OMIM:160980
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Cognitive impairment	ORPHA:172
Thyroid Dyshormonogenesis 6	Hypothyroidism, Congenital hypothyroidism	OMIM:607200
Hypothyroidism, Congenital, Nongoitrous, 8	Secondary amenorrhea, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone ...	OMIM:301033
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Polyendocrine-Polyneuropathy Syndrome	Hypogonadism, Central hypothyroidism, Progressive hearing impairment	OMIM:616113
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hypercholesterolemia, Ventricular septal hypertrophy, Elevated circulating creatine kinase concen...	ORPHA:370
Pituitary Hormone Deficiency, Combined, 4	Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficiency	OMIM:262700
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr...	OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Ja...	OMIM:603552
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Recurrent fractures, Papillary thyroid carcinoma, Nodular goiter	ORPHA:97290
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Hypersplenism, Bone-marrow foam...	OMIM:278000
Anemia, Hypochromic Microcytic, With Iron Overload 1	Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia	OMIM:206100
Hypothyroidism, Central, With Testicular Enlargement	Overweight, Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH...	OMIM:300888
Myxedema	Hypothyroidism, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Hypohidrosis	OMIM:255900
Bangstad Syndrome	Goiter, Insulin-resistant diabetes mellitus, Small for gestational age, Cerebral hypoplasia, Prim...	OMIM:210740
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hepatomegaly, Hypercalcemia, Ascites, Anemia, Renal insufficiency	ORPHA:2123
Thyroid Cancer, Nonmedullary, 4	Non-medullary thyroid carcinoma, Goiter	OMIM:616534
Tsh-Secreting Pituitary Adenoma	Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration...	ORPHA:91347
Refractory Celiac Disease	Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Elevated hepatic transam...	ORPHA:398063
Immunodeficiency 27A	Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Enlarged mese...	OMIM:209950
Rothmund-Thomson Syndrome, Type 1	Osteoporosis, Male hypogonadism, Hypothyroidism, Recurrent otitis media, Premature ovarian insuff...	OMIM:618625
Retinal Dystrophy With Or Without Extraocular Anomalies	Secondary amenorrhea, Goiter, Premature ovarian insufficiency	OMIM:617175
Hypervitaminosis A, Susceptibility To	Renal insufficiency, Ascites, Hypercalcemia, Abnormality of the liver	OMIM:240150
Thyroid Dyshormonogenesis 1	Hypothyroidism, Goiter, Umbilical hernia	OMIM:274400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu...	OMIM:619041
Citrullinemia Type Ii	Hypercholesterolemia, Hypoproteinemia, Aggressive behavior, Elevated hepatic transaminase, Hepati...	ORPHA:247585
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Abnormality of the menstrual cycle, Goiter, Abnormal calcium-phosphate regulating hormone level, ...	ORPHA:457059
Galactokinase Deficiency	Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Psychomotor deterioration...	ORPHA:79237
Graves Disease, Susceptibility To, 1	Graves disease, Goiter, Hyperhidrosis, Weight loss	OMIM:275000
Maternal Uniparental Disomy Of Chromosome 9	Elbow ankylosis, Low-set ears, Congenital hypothyroidism, Failure to thrive, Hamstring contractures	ORPHA:96183
Leishmaniasis	Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, He...	ORPHA:507
Mccune-Albright Syndrome	Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increased circu...	ORPHA:562
Pituicytoma	Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Abnormality of circulating adrenocor...	ORPHA:251623
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Cirrhosis, Hepatomegaly, Jaundice, Hypertriglyceridemia, Hepatic failure, S...	ORPHA:75234
Carney Complex	Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco...	ORPHA:1359
Beta-Thalassemia Intermedia	Persistence of hemoglobin F, Jaundice, Decreased liver function, Elevated hepatic iron concentrat...	ORPHA:231222
Congenital Disorder Of Glycosylation, Type Iip	Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,...	OMIM:616829
Maffucci Syndrome	Neoplasm of the parathyroid gland, Osteolysis, Goiter, Ovarian neoplasm, Recurrent fractures, Neo...	ORPHA:163634
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism	Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi...	OMIM:619326
Thyrocerebroretinal Syndrome	Sensorineural hearing impairment, Goiter	OMIM:274240
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia, Abnormal heart morphology	DECIPHER:16
Anemia, Congenital Dyserythropoietic, Type Iv	Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate pr...	OMIM:613673
Thyroid Hormone Metabolism, Abnormal	Elevated circulating thyroid-stimulating hormone concentration	OMIM:609698
Thyrocerebrorenal Syndrome	Euthyroid goiter, Sensorineural hearing impairment	ORPHA:3327
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Anemia, Elevated circulating creatine kinase concentration, Abnormal erythr...	ORPHA:264580
Hemochromatosis, Type 2A	Increased circulating ferritin concentration, Infertility, Cirrhosis, Azoospermia, Dilated cardio...	OMIM:602390
Glutaric Aciduria Iii	Goiter, Hyperthyroidism, Failure to thrive	OMIM:231690
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatomegaly, ...	OMIM:615895
Permanent Congenital Hypothyroidism	Hypothyroidism, Thyroid dysgenesis, Goiter, Umbilical hernia	ORPHA:226292
Pulmonary Nodular Lymphoid Hyperplasia	Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis	ORPHA:60026
Multiple Endocrine Neoplasia Type 2	Parathyroid hyperplasia, Ganglioneuromatosis, Joint laxity, Pheochromocytoma, Thyroid nodule, Aga...	ORPHA:653
Leptospirosis	Elevated serum transaminases during infections, Acute kidney injury, Pericarditis, Cellular urina...	ORPHA:509
Shwachman-Diamond Syndrome	Neutropenia, Pancytopenia, Pancreatic hypoplasia, Anemia, Leukopenia, Thrombocytopenia, Elevated ...	ORPHA:811
Blepharochalasis And Double Lip	Goiter	OMIM:109900
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Elevated hepatic transaminase, Hyperbilirubinemia, Abnorma...	ORPHA:98870
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia, Cholest...	OMIM:617156
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate...	OMIM:251880
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Methylcobalamin Deficiency Type Cble	Neutropenia, Pancytopenia, Hemolytic-uremic syndrome, Hypomethioninemia, Hyperhomocystinemia, Inc...	ORPHA:2169
Autoimmune Lymphoproliferative Syndrome, Type Iii	Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf...	OMIM:615559
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly	OMIM:608971
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Hypertriglyceridemia, Splenomegaly	OMIM:619175
Blue Diaper Syndrome	Abnormal abdomen morphology, Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan con...	OMIM:211000
Preeclampsia	Abnormality of the hepatic vasculature, Acute kidney injury, Elevated hepatic transaminase, Eleva...	ORPHA:275555
Reticuloendotheliosis, X-Linked	Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy	OMIM:312500
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Azoospermia, Elevated hepatic transaminase, Decreas...	ORPHA:300298
Ascher Syndrome	Hypothyroidism, Goiter	ORPHA:1253
Niemann-Pick Disease, Type B	Bone-marrow foam cells, Sea-blue histiocytosis, Hepatomegaly, Hypertriglyceridemia, Splenomegaly,...	OMIM:607616
Hyperthyroxinemia, Dystransthyretinemic	Euthyroid hyperthyroxinemia	OMIM:145680
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Pancreatic lymphangiectasis, Hypocalcemia, Hypoproteinemia, Ventricular septal defect, Hepatomega...	OMIM:235255
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Hyperthyroidism, Weight loss	OMIM:188580
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Hemolytic anemia, Reticulocytosis, Distal renal tubular acidosis, Isothenuria, ...	OMIM:611590
Coronary Artery Disease, Autosomal Dominant 2	Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab...	OMIM:610947
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Hyperthyroidism, Weight loss	OMIM:613239
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Amenorrhe...	OMIM:604250
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multinodular goiter	ORPHA:2091
Genetic Transient Congenital Hypothyroidism	Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test result, Elevated ...	ORPHA:226316
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti...	ORPHA:444463
Dominant Beta-Thalassemia	Hypochromic microcytic anemia, Cirrhosis, Abnormality of iron homeostasis, Decreased mean corpusc...	ORPHA:231226
Thyroid Lymphoma	Hypothyroidism, Goiter, Hashimoto thyroiditis, Hyperthyroidism	ORPHA:97285
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies	Multinodular goiter	OMIM:138790
Medullary Thyroid Carcinoma	Elevated calcitonin, Pheochromocytoma, Weight loss, Hyperhidrosis, Primary hyperparathyroidism, N...	ORPHA:1332
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase...	ORPHA:766
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the lymph nodes, Hyperuricemi...	ORPHA:543
Isolated Thyroid-Stimulating Hormone Deficiency	Goiter, Delayed proximal femoral epiphyseal ossification, Increased pituitary glycoprotein hormon...	ORPHA:90674
Thyrotropin-Releasing Hormone Deficiency	Hypothyroidism, Hypothalamic hypothyroidism	OMIM:275120
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Goiter, Thyroid nodule, Multinodular goiter	OMIM:180295
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Pancytopenia, Reduced natural killer cell count, Th...	OMIM:616050
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Hyperphosphaturia, Polyuria, Aminoaciduria, Hepatomegaly, Hypercalciuria, Calci...	OMIM:239200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Hypertriglyceri...	OMIM:613101
Cholesterol-Ester Transfer Protein Deficiency	Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot...	ORPHA:79506
Beta-Thalassemia	Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegal...	ORPHA:848
Beta-Thalassemia Major	Hypochromic microcytic anemia, Cirrhosis, Abnormality of iron homeostasis, Decreased mean corpusc...	ORPHA:231214
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Goiter, Hypothyroidism, Abnormal cerebral white matter morphology, Hashimoto thyroiditis, Abnorma...	ORPHA:83601
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of ina...	OMIM:237800
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly	OMIM:618495
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Joubert Syndrome 26	Panhypopituitarism, Central hypothyroidism, Decreased response to growth hormone stimuation test	OMIM:616784
Auditory Neuropathy, Autosomal Dominant, 1	Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment...	OMIM:609129
Pituitary Hormone Deficiency, Combined, 2	Panhypopituitarism, Hypothyroidism, Adrenal insufficiency, Reduced circulating prolactin concentr...	OMIM:262600
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Exocrine pancreatic insufficiency, E...	ORPHA:1667
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, Ventricular septal de...	OMIM:612561
Congenital Enterovirus Infection	Leukocytosis, Abnormal macrophage morphology, Pericardial effusion, Neutropenia, Fetal ascites, C...	ORPHA:292
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Anemia, Hype...	OMIM:603278
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration...	OMIM:618805
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri...	OMIM:614480
Hypophosphatasia	Hypercalcemia, Irritability, Anemia	ORPHA:436
Galactosemia Iii	Aminoaciduria, Hypergalactosemia, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly	OMIM:230350
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly	OMIM:118830
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, T lymphocytopenia, Endocardial fibroelastosis, Impa...	OMIM:619313
Congenital Disorder Of Glycosylation, Type Ih	Abnormal heart morphology, Cholestasis, Thrombocytopenia, Hepatomegaly, Decreased liver function,...	OMIM:608104
Hemochromatosis, Type 1	Increased circulating ferritin concentration, Cirrhosis, Azoospermia, Glucose intolerance, Elevat...	OMIM:235200
Trimethylaminuria	Depression, Neutropenia, Anemia, Splenomegaly, Trimethylaminuria	OMIM:602079
Gne Myopathy	Limited wrist extension, Facial palsy, Hypothyroidism, Limited shoulder movement	ORPHA:602
Non-Acquired Panhypopituitarism	Infertility, Decreased circulating ACTH level, Ectopic anterior pituitary gland, Amenorrhea, Decr...	ORPHA:90695
Multiple Endocrine Neoplasia Type 1	Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat...	ORPHA:652
Sitosterolemia 1	Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticu...	OMIM:210250
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ...	OMIM:607685
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Low-set ears, Hypothyroidism, Sensorineural hearing impairment, Posteriorly rotated ears	OMIM:617763
Neutrophilia, Hereditary	Neutrophilia, Hepatosplenomegaly	OMIM:162830
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Vacuolated lymphocytes, Pericardial effusion, Neutr...	ORPHA:167
Hyperlipoproteinemia, Type Id	Hepatomegaly, Hyperlipoproteinemia, Splenomegaly	OMIM:615947
Immunodeficiency 69	Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,...	OMIM:618963
Primary Intestinal Lymphangiectasia	Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Lymphopenia, Pericardial effusion, Hypoalb...	ORPHA:90362
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Familial Hemophagocytic Lymphohistiocytosis	Abnormal renal physiology, Hemophagocytosis, Increased circulating ferritin concentration, Elevat...	ORPHA:540
Congenital Hypothyroidism	Goiter, Hypothyroidism, Umbilical hernia, Abnormality of reproductive system physiology, Abnormal...	ORPHA:442
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Renal insufficiency, Hypercalcemia, Anemia, Proteinuria	ORPHA:2668
Immunodeficiency 31C	Osteopenia, Delayed puberty, Diabetes mellitus, Hypothyroidism	OMIM:614162
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Pancreatic lymphangiectasis, Hypocalcemia, Hypoproteinemia, Ventricular septal defect, Hepatomega...	ORPHA:1655
Cowden Syndrome 5	Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Thyroiditis, Hypothyroidism, Hearing...	OMIM:615108
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Growth Hormone Insensitivity Syndrome	Hypercholesterolemia, Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Hypoplasia of ...	ORPHA:181393
Lymphoproliferative Syndrome 1	Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a...	OMIM:613011
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,...	OMIM:618849
Hypothyroidism, Congenital, Nongoitrous, 9	Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu...	OMIM:301035
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Lymphangiectasis, Hypoa...	OMIM:602579
Cog4-Cdg	Hypercholesterolemia, Cirrhosis, Fatal liver failure in infancy, Elevated hepatic transaminase, T...	ORPHA:263501
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Microcytic anemia, Hepatic steatosis, Hypertriglyceridemia, Hypoal...	OMIM:619013
Lcat Deficiency	Hemolytic anemia, Hematuria, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Renal insufficienc...	ORPHA:650
Secondary Intestinal Lymphangiectasia	Hypocalcemia, Hypoproteinemia, Lymphopenia, Chylous ascites, Abnormality of the lymphatic system	ORPHA:90363
Hypothyroidism, Congenital, Nongoitrous, 6	Increased T3/T4 ratio, Omphalocele, Impaired sensitivity to thyroid hormone, Congenital hypothyro...	OMIM:614450
Ravine Syndrome	Failure to thrive, Abnormal auditory evoked potentials, Abnormality of the basal ganglia, Decreas...	ORPHA:99852
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalciuria, Phosphoethanolaminur...	OMIM:241500
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Hypoproteinemia, Neutropenia, Hypoalbuminemia	OMIM:600351
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Post-Traumatic Pituitary Deficiency	Panhypopituitarism, Infertility, Decreased circulating ACTH level, Amenorrhea, Decreased testicul...	ORPHA:95619
Pediatric-Onset Graves Disease	Puberty and gonadal disorders, Craniosynostosis, Increased circulating T4 level, Graves disease, ...	ORPHA:525731
Hypothyroidism, Congenital, Nongoitrous, 1	Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce...	OMIM:275200
Hypercalcemia, Infantile, 2	Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep...	OMIM:616963
Thymic Neuroendocrine Tumor	Increased circulating cortisol level, Chronic noninfectious lymphadenopathy, Neoplasm of the thym...	ORPHA:97289
Nephrotic Syndrome, Type 14	Mental deterioration, Focal segmental glomerulosclerosis, Lymphopenia, Hypoglycemia, Hypertriglyc...	OMIM:617575
Immunodeficiency 32A	Lymphadenopathy	OMIM:614893
Oculoskeletodental Syndrome	Hypocalcemia, Mucopolysacchariduria, Hepatomegaly, Hypercalciuria, Hypercalcemia, Splenomegaly	OMIM:618440
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Liver abscess, Abnormality of the pancreas, Elevated circulating C...	ORPHA:54251
Cowden Syndrome 6	Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Thyroiditis, Hypothyroidism, Hearing...	OMIM:615109
Hepatocellular Carcinoma	Abnormality of the hepatic vasculature, Hemobilia, Emotional lability, Jaundice, Hypercalcemia, H...	ORPHA:88673
Anaplastic Thyroid Carcinoma	Anaplastic thyroid carcinoma, Goiter, Weight loss, Nodular goiter	ORPHA:142
Splenoportal Vascular Anomalies	Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam...	OMIM:271500
Johanson-Blizzard Syndrome	Hypoproteinemia, Exocrine pancreatic insufficiency, Dextrocardia, Abnormality of the pancreas, Hy...	ORPHA:2315
Pseudohypoparathyroidism, Type Ic	Osteoporosis, Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Basal ganglia calcific...	OMIM:612462
Mu-Heavy Chain Disease	Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ...	ORPHA:100024
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Progressive neurologic deterioration, Abnormality of the hepatic vasculature, Depression, Nodular...	ORPHA:247691
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Camptodactyly of finger, Low-set, posteriorly rotated ears, Hypothyroidism, Delayed puberty, Micr...	ORPHA:2994
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Intrinsic Factor Deficiency	Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume	OMIM:261000
Castleman Disease	Ureteral obstruction, Abdominal mass, Hematuria, Restrictive cardiomyopathy, Generalized lymphade...	ORPHA:160
Bangstad Syndrome	Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis...	ORPHA:1227
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Amenorrhea, Oligomenorrhea, Hepatic steatosis,...	ORPHA:528
Pituitary Stalk Interruption Syndrome	Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Ectopic posterior pituitary, Primary amenorrh...	ORPHA:95496
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume	OMIM:252270
Congenital Toxoplasmosis	Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, As...	ORPHA:858
X-Linked Sideroblastic Anemia	Glucose intolerance, Elevated hepatic transaminase, Abnormality of iron homeostasis, Anemia, Sple...	ORPHA:75563
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio	OMIM:613978
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Hypomethioninemia, Methylmalonic aciduria, Methylmalonic acidemia, Increase...	OMIM:277410
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir...	ORPHA:247598
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreatitis, Renal insufficie...	ORPHA:79312
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega...	OMIM:615285
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Argininuri...	ORPHA:470
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly	OMIM:206400
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Overweight, Hypoplastic helices, Hypothyroidism, Recurrent otitis media, Flexion contracture, EEG...	ORPHA:391372
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Atrial septal defect, Dilated cardiomyopathy, Patent foramen ovale...	ORPHA:26793
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Leukocytosis, Thrombocytopenia, Acute myeloid leukemi...	ORPHA:86839
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp...	OMIM:612885
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Craniosynostosis, Obesity	ORPHA:88643
Combined Pituitary Hormone Deficiencies, Genetic Forms	Pituitary hypothyroidism, Anterior pituitary hypoplasia, Delayed puberty, Decreased testicular si...	ORPHA:95494
Potocki-Shaffer Syndrome	Hypothyroidism, Delayed puberty, Decreased skull ossification	ORPHA:52022
Congenital Macroglossia	Hypothyroidism	ORPHA:2430
Hawkinsinuria	Hypothyroidism, Failure to thrive	ORPHA:2118
Non-Functioning Pituitary Adenoma	Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Vertigo, Adrenocorti...	ORPHA:91349
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Abnormality of the pinna, Cerebral cortical atrophy, Congenita...	ORPHA:352530
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteoporosis, Osteolysis, Osteolysis involving bones of the upper limbs, Papilledema, Omphalocele...	ORPHA:371428
Familial Hyperprolactinemia	Osteoporosis, Infertility, Oligomenorrhea, Amenorrhea, Hemorrhagic ovarian cyst, Female hypogonad...	ORPHA:397685
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Bile Acid Synthesis Defect, Congenital, 5	Iron deficiency anemia, Increased total iron binding capacity, Elevated hepatic transaminase, Por...	OMIM:616278
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia, Lymphopenia	ORPHA:1116
Symptomatic Form Of Hemochromatosis Type 1	Increased circulating ferritin concentration, Infertility, Cirrhosis, Abnormality of iron homeost...	ORPHA:465508
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy...	ORPHA:3203
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, H...	OMIM:259720
Mucopolysaccharidosis-Plus Syndrome	Atrial septal defect, Enlarged kidney, Focal segmental glomerulosclerosis, Macrovesicular hepatic...	OMIM:617303
Precocious Puberty, Central, 1	Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut...	OMIM:176400
Mastocytosis	Chronic leukemia, Hepatomegaly, Hypercalcemia, Splenomegaly, Mastocytosis, Acute leukemia	ORPHA:98292
Hyperprolactinemia	Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea	OMIM:615555
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Hyperparathyroidism 2 With Jaw Tumors	Recurrent pancreatitis, Hypercalcemia, Polycystic kidney dysplasia, Nephrolithiasis, Pancreatic a...	OMIM:145001
Dengue Fever	Hypoproteinemia, Thrombocytopenia, Hepatomegaly, Ascites, Leukopenia	ORPHA:99828
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula...	OMIM:614470
Diamond-Blackfan Anemia 7	Horseshoe kidney, Ventricular septal defect, Secundum atrial septal defect, Neutropenia, Vesicour...	OMIM:612562
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Basal ganglia calcific...	OMIM:103580
Cowden Syndrome 1	Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Hemimegalencephaly, Thyroiditis, Hyp...	OMIM:158350
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Infertility, Hypothyroidism	OMIM:264300
Plin1-Related Familial Partial Lipodystrophy	Infertility, Hyperinsulinemia, Oligomenorrhea, Reduced subcutaneous adipose tissue, Lipoatrophy, ...	ORPHA:280356
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Coproporphyria, Hereditary	Depression, Hepatomegaly, Jaundice, Anxiety, Splenomegaly, Increased urinary porphobilinogen, Ele...	OMIM:121300
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas...	ORPHA:453533
Cholestasis-Lymphedema Syndrome	Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil...	OMIM:214900
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise...	OMIM:161900
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative ...	ORPHA:251004
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Pulmonic stenosis, Aortic valve stenosis, Infantile hypercalcemia, Neph...	OMIM:143880
Immunodeficiency 75	Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia...	OMIM:619126
Hypothyroidism, Congenital, Nongoitrous, 7	Decreased circulating T4 level, Reduced TSH response to thyrotrophin-releasing hormone stimulatio...	OMIM:618573
Immunodeficiency 52	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ...	OMIM:617514
Hypothyroidism Due To Tsh Receptor Mutations	Compensated hypothyroidism, Increased radioactive iodine uptake, Delayed proximal femoral epiphys...	ORPHA:90673
Harderoporphyria	Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pr...	OMIM:618892
Immunodeficiency 8	Lymphopenia	OMIM:615401
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Hypoalbuminemia...	ORPHA:367
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Allan-Herndon-Dudley Syndrome	Prominent antihelix, Macrotia, Hypothyroidism, Flexion contracture, Elevated circulating thyroid-...	OMIM:300523
Galloway-Mowat Syndrome 6	Hypothyroidism, Microcephaly, Decreased body weight, Decreased response to growth hormone stimuat...	OMIM:618347
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly	OMIM:179700
Late-Onset Isolated Acth Deficiency	Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Hypoglycemia, Normocytic anemi...	ORPHA:199299
Majeed Syndrome	Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decreased mean corpusc...	OMIM:609628
Immunodeficiency 40	Lymphopenia	OMIM:616433
Relapsing Fever	Increased total bilirubin, Hematuria, Acute kidney injury, Elevated hepatic transaminase, Leukocy...	ORPHA:91547
Familial Pseudohyperkalemia	Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume, Hy...	ORPHA:90044
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hepatomegaly, Hypertriglyceridemia, Increased circulating chylomicron conce...	OMIM:207750
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepat...	OMIM:300635
Hemorrhagic Fever-Renal Syndrome	Hypoproteinemia, Elevated hepatic transaminase, Leukocytosis, Abnormal pericardium morphology, Th...	ORPHA:340
Immunodeficiency 48	Hepatomegaly, Splenomegaly	OMIM:269840
Infantile Sialic Acid Storage Disease	Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Cardiomegaly, ...	OMIM:269920
Mccune-Albright Syndrome	Elevated circulating growth hormone concentration, Increased circulating cortisol level, Craniofa...	OMIM:174800
Sandhoff Disease	Hepatomegaly, Progressive psychomotor deterioration, Motor deterioration, Splenomegaly	ORPHA:796
Prolactinoma	Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D...	ORPHA:2965
Branchiootorenal Syndrome 1	Hypoplasia of the cochlea, Conductive hearing impairment, Cupped ear, Euthyroid goiter, Stenosis ...	OMIM:113650
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Panhypopituitarism, Hypothyroidism, Hypoplasia of the corpus callosum, Lipodystrophy, Cerebral at...	OMIM:618922
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Multinodular goiter	OMIM:618373
Adamantinoma	Hypercalcemia	ORPHA:55881
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:618852
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Wide anterior fontanel, Decreased circulating T4 level, Umbilical hernia, Abnormality of thyroid ...	ORPHA:95715
Alstrom Syndrome	Progressive sensorineural hearing impairment, Hyperinsulinemia, Multinodular goiter, Hypergonadot...	OMIM:203800
Griscelli Syndrome Type 2	Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Hyperlipidemia...	ORPHA:79477
Adult-Onset Still Disease	Pericarditis, Elevated hepatic transaminase, Leukocytosis, Myocarditis, Generalized lymphadenopat...	ORPHA:829
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly	OMIM:611762
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Glucose intolerance, Insulin resistance, Impaired glucose tolerance, Hypert...	OMIM:606721
Tyrosinemia Type 1	Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom...	ORPHA:882
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Hypothyroidism	ORPHA:663
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Hepatic cysts, Elevated circulating creatinine concentration, Dextrocardi...	OMIM:613095
Functioning Gonadotropic Adenoma	Pituitary hypothyroidism, Delayed puberty, Osteoporosis, Decreased female libido, Osteopenia, Pit...	ORPHA:91348
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Acquired Idiopathic Sideroblastic Anemia	Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment...	ORPHA:75564
Non-Functioning Paraganglioma	Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Elevated urinary epinephri...	ORPHA:94080
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypogonadotropic hypogonadism, Hypothyroidism, Cryptorchidism, Infertility	ORPHA:752
Pituitary Carcinoma	Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita...	ORPHA:300385
Sea-Blue Histiocyte Disease	Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly	OMIM:269600
Immunodeficiency 76	T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:619164
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy...	OMIM:600995
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalciuria, Hypercalcemia, Micropenis, Hypospadias	OMIM:614732
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I	ORPHA:488191
Purine Nucleoside Phosphorylase Deficiency	Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thrombocytopenia...	OMIM:613179
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hypoglycemia, Hepatic failure, Splenomegaly, Hyperammonemia	ORPHA:664
Hyperparathyroidism 4	Hypercalcemia, Nephrolithiasis	OMIM:617343
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope...	ORPHA:54057
Citrullinemia, Type Ii, Neonatal-Onset	Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia...	OMIM:605814
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Hypoalbuminemia, Ascites	OMIM:226300
Candidiasis, Familial, 2	Decreased serum iron, Hypereosinophilia, Lymphadenopathy	OMIM:212050
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly	ORPHA:79238
Ddost-Cdg	Osteopenia, Failure to thrive, Lipodystrophy, Primary hypothyroidism	ORPHA:300536
Athyreosis	Thyroid agenesis, Hypothyroidism	ORPHA:95713
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Aminoaciduria, Splenomegaly	ORPHA:417
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega...	OMIM:133180
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Poems Syndrome	Sclerosis of hand bone, Primary adrenal insufficiency, Hypothyroidism, Erectile dysfunction, Lipo...	ORPHA:2905
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Macrotia, Hypothyroidism, Hypoplasia of the corpus callosum, Decreased body weight,...	ORPHA:391408
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Depression, Hypercalcemia, Pancreatitis, Parath...	OMIM:600740
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Hypogonadism, Cardiomyopathy, Splenomegaly	OMIM:608540
Cholestasis-Lymphedema Syndrome	Abnormality of urine homeostasis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab...	ORPHA:1414
Nephrotic Syndrome, Type 1	Hypoproteinemia, Glomerular sclerosis, Hypoalbuminemia, Renal insufficiency, Diffuse mesangial sc...	OMIM:256300
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Jaundice, Hypoproteinemia, Aggressive behavior	OMIM:608093
Addison Disease	Thiamine-responsive megaloblastic anemia, Decreased circulating cortisol level, Hyponatremia, Hyp...	ORPHA:85138
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Acute kidney injury, Elevated hepatic transaminase, Elevated creatine kinase after exercise, Hype...	ORPHA:284426
Cinca Syndrome	Leukocytosis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Anemia, Hep...	OMIM:607115
Alpha-Thalassemia	Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi...	ORPHA:846
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy	ORPHA:66661
Oocyte Maturation Defect 9	Female infertility, Oocyte arrest at metaphase I	OMIM:619011
Resistance To Thyrotropin-Releasing Hormone Syndrome	Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circulating free ...	ORPHA:99832
Mcleod Syndrome	Personality disorder, Dilated cardiomyopathy, Depression, Abnormal erythrocyte morphology, Anxiet...	OMIM:300842
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Abnormal cerebral white matter morphology, Absent brainstem auditory responses, Sensorineural hea...	OMIM:617519
Immunodeficiency 47	Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau...	OMIM:300972
Panhypophysitis	Pituitary hypothyroidism, Abnormality of the posterior pituitary, Sensorineural hearing impairmen...	ORPHA:95513
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid agenesis, Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concen...	OMIM:218700
Hypothyroidism, Congenital, Nongoitrous, 4	Congenital hypothyroidism, Omphalocele, Wide anterior fontanel, Umbilical hernia	OMIM:275100
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Infantile hypercalcemia, Rena...	ORPHA:99879
Coach Syndrome 2	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hepatic fibrosis, C...	OMIM:619111
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Hyperlipoproteinemia, Type Ii, And Deafness	Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration	OMIM:144300
Congenital Bile Acid Synthesis Defect Type 3	Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep...	ORPHA:79302
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Splenomegaly	ORPHA:86893
Tubulointerstitial Nephritis With Uveitis	Elevated circulating creatinine concentration, Reversible renal failure, Acute tubulointerstitial...	OMIM:607665
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Hypothyroidism, Umbilical hernia	ORPHA:2349
Immunodeficiency 24	Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,...	OMIM:615897
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu...	OMIM:619375
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Maternal diabetes, Oligomenorrhea, Insulin resistance, Hepatic steatosis, Hyperuricemi...	ORPHA:79083
Congenital Bile Acid Synthesis Defect Type 2	Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai...	ORPHA:79303
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Cryptorchidism, Macrotia, Hypothyroidism, Hypoplasia of the corpus callosum, Delayed puberty, Hea...	OMIM:616817
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy	OMIM:601382
Blackfan-Diamond Anemia	Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo...	ORPHA:124
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated hepatic transaminase, Elevat...	OMIM:614817
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Xanthelasma, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Psyc...	ORPHA:275761
Developmental And Epileptic Encephalopathy 90	Hypothyroidism, EEG with burst suppression, Cerebral atrophy, Hypsarrhythmia	OMIM:301058
Multiple Endocrine Neoplasia, Type Iib	Parathyroid hyperplasia, Joint laxity, Nodular goiter, Pheochromocytoma, Aganglionic megacolon, F...	OMIM:162300
Coenzyme Q10 Deficiency, Primary, 8	Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration, L...	OMIM:616733
Hypogonadotropic Hypogonadism 24 Without Anosmia	Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism	OMIM:229070
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Adenohypophysitis	Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Orthostatic hypotension,...	ORPHA:95512
Pearson Syndrome	Hypocalcemia, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Anemia, Hypomagnes...	ORPHA:699
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
X-Linked Agammaglobulinemia	Hypocalcemia, Neutropenia, Thrombocytopenia, Hepatitis, Recurrent cutaneous abscess formation, An...	ORPHA:47
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal...	OMIM:612840
2P21 Microdeletion Syndrome	Hypocalcemia, Hypoglycemia, Cystinuria, Hypogonadism, Nephrolithiasis	ORPHA:163693
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon...	ORPHA:98754
Immunodeficiency 14A, Autosomal Dominant	Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of...	OMIM:615513
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hepatic steatosis,...	OMIM:212065
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia, Increased serum pyruvate, Hyperalaninemia, Splenomegaly, Hyperprolinemia, ...	OMIM:619046
Immunodeficiency 64	Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm...	OMIM:618534
Babesiosis	Hemolytic anemia, Depression, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly,...	ORPHA:108
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly	ORPHA:231393
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Infertility, Corpus callosum atrophy, Oligomenorrhea, Hypothyroidism, Abnormal motor evoked poten...	ORPHA:412057
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy...	OMIM:615573
Idiopathic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy...	ORPHA:567548
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Focal segmental glomerulosclerosis, Ventricular septal defect, Hypoalbumine...	OMIM:616730
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Elliptocytosis, Hepatocellular necrosis, Reticulocytosis, Hepatomegaly,...	OMIM:618278
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C...	OMIM:300853
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi...	OMIM:615631
Oocyte Maturation Defect 2	Female infertility, Oocyte arrest at metaphase I	OMIM:616780
Al Amyloidosis	Monoclonal light chain cardiac amyloidosis, Albuminuria, Abnormal heart morphology, Autonomic ere...	ORPHA:85443
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T...	ORPHA:37042
Gaucher Disease, Type Iii	Progressive neurologic deterioration, Dementia, Depression, Pancytopenia, Thrombocytopenia, Hepat...	OMIM:231000
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop...	OMIM:619220
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon...	ORPHA:98793
Monosomy 13Q34	Insulin resistance, Hepatic steatosis, Pulmonic stenosis, Metrorrhagia, Infantile hypercalcemia, ...	ORPHA:96168
Hypothyroidism, Congenital, Nongoitrous, 5	Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia	OMIM:225250
Focal Segmental Glomerulosclerosis 6	Hematuria, Focal segmental glomerulosclerosis, Chronic kidney disease, Hypoalbuminemia, Nephrotic...	OMIM:614131
Acute Adrenal Insufficiency	Renal insufficiency, Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Renal sal...	ORPHA:95409
Oculocerebrodental Syndrome	Hypocalcemia, Nephrocalcinosis, Hypercalcemia	ORPHA:557003
Multiple Endocrine Neoplasia, Type Iv	Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Hypothyroidism, Ca...	OMIM:610755
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph...	OMIM:617609
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia, Decreased circulating parathyroid hormone level, Male hypogonadism, Primary ad...	OMIM:240300
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Fanconi Anemia, Complementation Group I	Agenesis of corpus callosum, Absent septum pellucidum, Conductive hearing impairment, Hypothyroid...	OMIM:609053
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon...	ORPHA:177904
Autoimmune Lymphoproliferative Syndrome	Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ...	OMIM:601859
Primary Membranoproliferative Glomerulonephritis	Acute kidney injury, Microscopic hematuria, Chronic kidney disease, Hypoalbuminemia, Stage 5 chro...	ORPHA:54370
Aregenerative Anemia	Erythroid hypoplasia, Dementia, Fatigable weakness of skeletal muscles, Depression, Decreased pro...	ORPHA:101096
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Exocrine ...	ORPHA:456312
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia	OMIM:615863
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon...	ORPHA:177901
Acquired Aneurysmal Subarachnoid Hemorrhage	Progressive neurologic deterioration, Hypercholesterolemia, Leukocytosis, Left ventricular hypert...	ORPHA:90065
Griscelli Syndrome	Abnormality of neutrophils, Abnormal circulating lipid concentration, Thrombocytopenia, Jaundice,...	ORPHA:381
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis, Hypercalcemia	OMIM:239199
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypercholesterolemia, Xanthelasma, Hyperuricemia, Anemia, Hyperlipidemia, Enlarged kidney, Nephro...	ORPHA:79259
Hyperthyroidism, Familial Gestational	Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Hyperthyroidism	OMIM:603373
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Insulin-Resistance Syndrome Type B	Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Leukope...	ORPHA:2298
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD...	OMIM:603909
Potocki-Lupski Syndrome	Hypothyroidism, Hypoplasia of the corpus callosum, Hearing impairment, Small for gestational age,...	OMIM:610883
Wilson Disease	Acute hepatitis, Abnormality of the menstrual cycle, Cirrhosis, Aggressive behavior, Elevated hep...	ORPHA:905
Lig4 Syndrome	Cryptorchidism, Amenorrhea, Hypothyroidism, Failure to thrive, Microcephaly	OMIM:606593
Glucagonoma	Increased circulating cortisol level, Extrahepatic cholestasis, Depression, Abnormal abdomen morp...	ORPHA:97280
Analbuminemia	Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c...	OMIM:616000
Schnitzler Syndrome	Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy	ORPHA:37748
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Splenomegaly	OMIM:618541
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:228312
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Lymphopenia, Atrial septal defect, Neutropenia	OMIM:614868
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Lactescent serum, Increased circulating chylomicron concentration, Jaundice...	OMIM:238600
Combined Oxidative Phosphorylation Deficiency 33	Hypothyroidism, Sensorineural hearing impairment	OMIM:617713
Sim1-Related Prader-Willi-Like Syndrome	Osteoporosis, Infertility, Cryptorchidism, Abdominal obesity, Premature pubarche, Premature adren...	ORPHA:398079
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplas...	ORPHA:226307
Trichohepatoenteric Syndrome 1	Cirrhosis, Thrombocytosis, Abnormality of iron homeostasis, Ventricular septal defect, Increased ...	OMIM:222470
Vipoma	Increased circulating cortisol level, Extrahepatic cholestasis, Abnormal abdomen morphology, Intr...	ORPHA:97282
Thrombotic Thrombocytopenic Purpura, Hereditary	Abnormal renal physiology, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reti...	OMIM:274150
Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Splenomegaly	ORPHA:98293
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Bamforth-Lazarus Syndrome	Thyroid agenesis, Congenital hypothyroidism	ORPHA:1226
Oocyte Maturation Defect 8	Female infertility	OMIM:619009
Timothy Syndrome	Hypocalcemia, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Patent foramen ovale, Tetral...	OMIM:601005
Intellectual Disability-Strabismus Syndrome	Cryptorchidism, Hypohidrosis, Agenesis of corpus callosum, Congenital finger flexion contractures...	ORPHA:363528
Lymphoproliferative Syndrome, X-Linked, 1	Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi...	OMIM:308240

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