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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
enlarged spleen	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	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
increased circulating serum albumin level	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.08×10^-08
small liver	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased freezing behavior	Duox2^em1(IMPC)Mbp	HOM	Early adult	3.35×10^-29
decreased heart weight	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.99×10^-08
small kidney	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased prepulse inhibition	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.89×10^-39
decreased red blood cell distribution width	Duox2^em1(IMPC)Mbp	HOM	Early adult	3.26×10^-07
abnormal spleen morphology	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased exploration in new environment	Duox2^em1(IMPC)Mbp	HOM	Early adult	4.95×10^-15
decreased liver weight	Duox2^em1(IMPC)Mbp	HOM	Early adult	1.11×10^-09
female infertility	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating cholesterol level	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.37×10^-21
decreased lymphocyte cell number	Duox2^em1(IMPC)Mbp	HOM	Early adult	5.83×10^-05
enlarged lymph nodes	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased grip strength	Duox2^em1(IMPC)Mbp	HOM	Early adult	1.84×10^-35
increased circulating calcium level	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.92×10^-05
increased fasting circulating glucose level	Duox2^em1(IMPC)Mbp	HOM	Early adult	3.24×10^-05
increased mean corpuscular volume	Duox2^em1(IMPC)Mbp	HOM	Early adult	3.45×10^-09
increased neutrophil cell number	Duox2^em1(IMPC)Mbp	HOM	Early adult	3.03×10^-07
abnormal heart morphology	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
small spleen	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating HDL cholesterol level	Duox2^em1(IMPC)Mbp	HOM	Early adult	1.78×10^-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
increased circulating creatinine level	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.54×10^-07
abnormal kidney 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.

Histopathology

Images

3 Images

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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 (1641 diseases)

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

Disease	Matching phenotypes	Source
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:95716
Thyroid Dyshormonogenesis 6	Congenital hypothyroidism, Hypothyroidism	OMIM:607200
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:226316

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

Disease	Matching phenotypes	Source
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy...	OMIM:619598
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Hearin...	OMIM:274300
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger	OMIM:259270
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Pendred Syndrome	Abnormal vestibular function, Goiter, Congenital sensorineural hearing impairment, Thyroid carcin...	OMIM:274600
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ...	ORPHA:2779
Thyroid Hormone Metabolism, Abnormal, 1	Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating free T3, Hy...	OMIM:609698
Hyperthyroidism, Nonautoimmune	Small for gestational age, Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased ...	OMIM:609152
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Thyroid Hormone Metabolism, Abnormal, 3	Abnormal circulating free T3 concentration, Increased circulating free T3, Euthyroid hyperthyroxi...	OMIM:620198
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ...	ORPHA:158048
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Genu valgum, Acetabular dysplasia, Talipes equinovarus, Hip dysplasia, Coxa valga	OMIM:613618
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,...	ORPHA:424
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ...	OMIM:609324
Coxopodopatellar Syndrome	Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ...	ORPHA:1509
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,...	ORPHA:99819
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter	OMIM:274700
Thyroid Dyshormonogenesis 2A	Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,...	OMIM:274500
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino...	OMIM:619868
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c...	OMIM:188570
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism, Hearing impairment	OMIM:228355
Beukes Hip Dysplasia	Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi...	OMIM:142669
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:95716
Hyperthyroxinemia, Familial Dysalbuminemic	Abnormal thyroid-stimulating hormone level, Increased circulating free T4 concentration, Euthyroi...	OMIM:615999
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu...	ORPHA:1972
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp...	OMIM:127300
Rhabdoid Tumor	Irritability, Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Hyperc...	ORPHA:69077
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Multiple Myeloma	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Splenomegaly, Ly...	ORPHA:29073
Pendred Syndrome	Hyperparathyroidism, Goiter, Vertigo, Thyroid carcinoma, Sensorineural hearing impairment, Enlarg...	ORPHA:705
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad...	OMIM:617719
Fibular Hemimelia	Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e...	ORPHA:93323
Wolfram-Like Syndrome	Optic atrophy, Male hypogonadism, Congenital sensorineural hearing impairment, Central diabetes i...	ORPHA:411590
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hepatic steatosis, Primary am...	OMIM:612526
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Graves Disease	Graves disease, Goiter, Increased circulating free T3, Weight loss, Increased circulating free T4...	OMIM:275000
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Gaisböck Syndrome	Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Failure to thrive, Hearing impairment, Umbilical hernia, Tr...	ORPHA:99886
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlipidemia, Increased ...	OMIM:232700
Pituitary Dwarfism With Large Sella Turcica	Decreased response to growth hormone stimulation test, Hypothyroidism	OMIM:262710
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r...	ORPHA:766
Citrullinemia Type Ii	Abnormal eating behavior, Hepatic steatosis, Delirium, Hepatomegaly, Restlessness, Mania, Hypopro...	ORPHA:247585
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Goiter, Papillary thyroid carcinoma, Nodular goiter, Recurrent frac...	ORPHA:319487
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Coxa vara,...	OMIM:184255
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Rothmund-Thomson Syndrome, Type 1	Male hypogonadism, Recurrent otitis media, Premature ovarian insufficiency, Hypothyroidism, Osteo...	OMIM:618625
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre...	OMIM:603553
Fetal Iodine Syndrome	Hypothyroidism, Sensorineural hearing impairment	ORPHA:1910
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata...	ORPHA:85170
Congenital Atransferrinemia	Hypothyroidism, Arthritis	ORPHA:1195
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Hypoplasia of the femoral head, Talipes equinovarus, Flat capital femoral e...	OMIM:226900
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating hormone concentration, ...	ORPHA:226313
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Increased circulating T4 concentration, Weight loss, Increased circulating free T4 concen...	OMIM:613239
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism	Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism	OMIM:300123
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Thyroid Cancer, Nonmedullary, 1	Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma	OMIM:188550
Alpha-Heavy Chain Disease	Ascites, Hypocalcemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Nodular goiter, Recurrent fractures, Papillary thyroid carcinoma, Goiter	ORPHA:97290
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver...	OMIM:617021
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Female infertility, Hearing impairment, Goiter	OMIM:617577
Diffuse Neonatal Hemangiomatosis	Ascites, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Anemia, Hypercalcemia	ORPHA:2123
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat...	OMIM:615703
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly, Dementia	ORPHA:2274
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses...	OMIM:250460
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Splenomegaly, Hypocalcemia, Cognitive impairment, Hepatomegaly, Jaundice	ORPHA:172
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp...	OMIM:615234
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi...	OMIM:306000
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ...	ORPHA:440354
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Thyroid Dyshormonogenesis 6	Congenital hypothyroidism, Hypothyroidism	OMIM:607200
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaund...	OMIM:603552
Hypothyroidism, Congenital, Nongoitrous, 1	Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:275200
Immunodeficiency 27A	Hypoalbuminemia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Throm...	OMIM:209950
Maffucci Syndrome	Pituitary adenoma, Goiter, Recurrent fractures, Neoplasm of the parathyroid gland, Parathyroid ad...	ORPHA:163634
Carney Complex, Type 1	Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Elevated ...	OMIM:160980
Mccune-Albright Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia...	ORPHA:562
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Galactokinase Deficiency	Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Premature ovarian insufficiency, Hypercholest...	ORPHA:79237
Hypothyroidism, Central, With Testicular Enlargement	Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t...	OMIM:300888
Pituitary Hormone Deficiency, Combined, 4	Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism	OMIM:262700
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A...	OMIM:613673
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Elevated circulating hepatic transaminase concentration, Hypo...	ORPHA:398063
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Granulomatous Slack Skin	Acute kidney injury, Hypercalcemia, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Retinal Dystrophy With Or Without Extraocular Anomalies	Premature ovarian insufficiency, Secondary amenorrhea, Goiter	OMIM:617175
Maternal Uniparental Disomy Of Chromosome 9	Low-set ears, Failure to thrive, Congenital hypothyroidism, Hamstring contractures, Elbow ankylosis	ORPHA:96183
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Increased LDL cholesterol c...	OMIM:278000
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Decrea...	ORPHA:91347
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni...	ORPHA:507
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Peritoneal effusion, Intestinal lymphangiectasia, Hypomagnesemia, Lymphopenia, A...	ORPHA:90362
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomeg...	OMIM:185000
Pituicytoma	Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ...	ORPHA:251623
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Hypothyroidism, Congenital, Nongoitrous, 8	Secondary amenorrhea, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone ...	OMIM:301033
Tibial Hemimelia	Absent tibia	OMIM:275220
Thyroid Dyshormonogenesis 1	Hypothyroidism, Umbilical hernia, Goiter	OMIM:274400
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr...	OMIM:620632
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Elevated circulating hepatic transaminas...	OMIM:615895
Thyroid Cancer, Nonmedullary, 4	Ovarian neoplasm, Papillary thyroid carcinoma, Goiter	OMIM:616534
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancy...	OMIM:308240
Bangstad Syndrome	Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mellitus, Go...	OMIM:210740
Ghosal Hematodiaphyseal Dysplasia	Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Bow...	ORPHA:1802
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Dysmenorrhea, Myoglobinuria, Cirrhosis, Hepatomegaly, Irregular m...	ORPHA:264580
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia...	OMIM:119100
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t...	ORPHA:64743
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:98870
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty...	OMIM:619326
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Thyrocerebroretinal Syndrome	Sensorineural hearing impairment, Goiter	OMIM:274240
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Macrocytic anemia, Hyp...	ORPHA:2169
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Hypoglycemia, Elevated circulating creatinine concentration, Pancytopenia, Hepat...	OMIM:617872
Leptospirosis	Acute kidney injury, Hepatitis, Elevated serum transaminases during infections, Cellular urinary ...	ORPHA:509
Shwachman-Diamond Syndrome	Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo...	ORPHA:811
Thyrocerebrorenal Syndrome	Euthyroid goiter, Sensorineural hearing impairment	ORPHA:3327
Allan-Herndon-Dudley Syndrome	Prominent antihelix, Elevated circulating thyroid-stimulating hormone concentration, Stahl ear, H...	OMIM:300523
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Decre...	ORPHA:158061
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Hypogonadism, Cryptorchidism, Hypothyroidi...	ORPHA:3363
Niemann-Pick Disease, Type B	Mental deterioration, Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomega...	OMIM:607616
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal...	OMIM:156500
Glutaric Aciduria Iii	Hyperthyroidism, Failure to thrive, Goiter	OMIM:231690
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch...	OMIM:620211
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Fatal liver failure ...	ORPHA:263501
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Paraganglioma of head and neck, Elevated circulating parathyroid horm...	ORPHA:653
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Polydipsia, Splenomegaly, Hyperphosphaturia, Hepatomegaly, Hypophosphatemia, Hyper...	OMIM:239200
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopeni...	OMIM:226990
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Cardiomyopathy, Increased circulating creatine kinase MM iso...	OMIM:613752
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Hypothyroidism, Congenital, Nongoitrous, 4	Umbilical hernia, Decreased circulating T4 concentration, Hypothyroidism, Omphalocele, Decreased ...	OMIM:275100
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Osteopenia, Ectopic anterior pituitary gland, Decreased response to ...	ORPHA:90695
Gne Myopathy	Limited shoulder movement, Limited wrist extension, Hypothyroidism, Facial palsy	ORPHA:602
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Hypokalemia...	OMIM:611590
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Failure to thrive, Increased circul...	ORPHA:90674
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:79240
Mantle Cell Lymphoma	Anorexia, Splenomegaly, Lymphadenopathy	ORPHA:52416
Dominant Beta-Thalassemia	Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per...	ORPHA:231226
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Increased circulating ferritin con...	OMIM:619313
Thyroid Lymphoma	Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Goiter	ORPHA:97285
Hypophosphatasia	Anemia, Hypercalcemia, Irritability	ORPHA:436
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Ascher Syndrome	Hypothyroidism, Goiter	ORPHA:1253
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Hyperthyroidism, Goiter	OMIM:188580
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Abnormal heart morphology, T lymphocytopenia, Hypocalcemia	DECIPHER:16
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul...	ORPHA:174
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Mesomelic leg shortening, Hum...	ORPHA:93333
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Pancreatic lymphangiectasis, Ascites, Splenomegaly, Hypocalcemia, Ventricular se...	OMIM:235255
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular...	OMIM:201170
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Hypothyroidism	OMIM:619647
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Flattened femoral head, Broad femoral neck, Arthralgia of the hip, Wide distal femoral metaphysis...	ORPHA:99642
Rhabdomyosarcoma, Embryonal, 2	Multinodular goiter, Ovarian thecoma, Thyroid nodule, Goiter	OMIM:180295
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multinodular goiter	ORPHA:2091
Blepharochalasis And Double Lip	Goiter	OMIM:109900
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:226316
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficiency anemia, Thro...	OMIM:226300
Hyperthyroxinemia, Dystransthyretinemic	Euthyroid hyperthyroxinemia	OMIM:145680
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,...	OMIM:616050
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Hemochromatosis, Type 3	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:604250
Morgagni-Stewart-Morel Syndrome	Vertigo, Obesity, Abnormality of the thyroid gland, Hypothyroidism, Osteoarthritis, Osteoporosis,...	ORPHA:77296
Thyrotropin-Releasing Hormone Deficiency	Hypothyroidism, Hypothalamic hypothyroidism	OMIM:275120
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Wolcott-Rallison Syndrome	Hypoalbuminemia, Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Elevated c...	ORPHA:1667
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Nephrocalcinosis, Abnormal abdomen morphology, Hyp...	OMIM:211000
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu...	OMIM:602390
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ...	OMIM:609129
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hashimoto thyroiditis, Hypothyroidism, Abnormal autonomic nervous system physiology, Goiter	ORPHA:83601
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the liver, Decreased pr...	ORPHA:543
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Equinovarus deformity, Genu valgum, Micrognathia, Broad phalanx, ...	ORPHA:56304
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Wei...	ORPHA:1332
Beta-Thalassemia Major	Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per...	ORPHA:231214
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome...	OMIM:613839
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hashimoto thyroiditis, Hypothyroidism, Th...	ORPHA:64744
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog...	OMIM:612561
Cowden Syndrome 5	Thyroid adenoma, Hearing impairment, Subcutaneous lipoma, Goiter, Ovarian cyst, Hypothyroidism, H...	OMIM:615108
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Cognitive impairment, Neutropenia, Jaundice, ...	ORPHA:167
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:300298
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, O...	ORPHA:470
Anaplastic Thyroid Carcinoma	Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter	ORPHA:142
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Splenomegaly, Hypocalc...	ORPHA:1655
Hypophosphatasia, Infantile	Nephrocalcinosis, Phosphoethanolaminuria, Elevated plasma pyrophosphate, Elevated urine pyrophosp...	OMIM:241500
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elev...	OMIM:618805
Johanson-Blizzard Syndrome	Exocrine pancreatic insufficiency, Hydronephrosis, Abnormal cardiac septum morphology, Dextrocard...	ORPHA:2315
Pediatric-Onset Graves Disease	Graves disease, Failure to thrive, Goiter, Puberty and gonadal disorders, Increased circulating f...	ORPHA:525731
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Type I diabetes mellitus, Carpal osteolysis, Osteolysis involving tarsal bones, Incre...	ORPHA:371428
Oculoskeletodental Syndrome	Splenomegaly, Hypocalcemia, Hypercalciuria, Mucopolysacchariduria, Hepatomegaly, Hypercalcemia	OMIM:618440
Congenital Enterovirus Infection	Hypoalbuminemia, Fetal ascites, Hepatic failure, Hepatitis, Cardiomyopathy, Cholestasis, Leukopen...	ORPHA:292
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hepa...	OMIM:619013
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Proteinuria, Thrombocytopen...	OMIM:615008
Blue Diaper Syndrome	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Inc...	ORPHA:94086
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Ane...	OMIM:224120
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit...	ORPHA:2410
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia	OMIM:207731
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemi...	ORPHA:247598
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Proteinuria, Hypercalcemia, Renal insufficiency	ORPHA:2668
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Kyphomelic Dysplasia	Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Micrognathia, Femoral bowi...	OMIM:211350
Post-Traumatic Pituitary Deficiency	Osteopenia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased ...	ORPHA:95619
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp...	OMIM:620044
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Type I diabetes mellitus, Hepatitis, Hypoglycemia, Macrocytic anemia, Hyperuri...	ORPHA:199299
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Congenital hypothyroidism, Obesity	ORPHA:88643
Joubert Syndrome 26	Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism	OMIM:616784
Cowden Syndrome 6	Thyroid adenoma, Hearing impairment, Subcutaneous lipoma, Goiter, Ovarian cyst, Hypothyroidism, H...	OMIM:615109
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, Hypothyroidism, Decreased motor nerve conduction velocity	OMIM:619851
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Failure to thrive	OMIM:300952
Trimethylaminuria	Depression, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia	OMIM:602079
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Increased circulating cortisol level, Neoplasm of the thymus, Hypercalce...	ORPHA:97289
Beta-Thalassemia	Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal...	ORPHA:848
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Testicular Anomalies With Or Without Congenital Heart Disease	Abnormality of thyroid physiology, Inguinal hernia, Cryptorchidism, Testicular dysgenesis	OMIM:615542
Familial Hyperprolactinemia	Osteopenia, Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhe...	ORPHA:397685
Foxp1 Syndrome	Hypoplastic helices, Failure to thrive, Recurrent otitis media, Hypothyroidism, Abnormality of th...	ORPHA:391372
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Dilated cardiomyopathy, Elevated circulating hepatic...	ORPHA:26793
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp...	ORPHA:85450
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Focal segmental glomerulosclerosis, Ascites, Stage 5 chronic kidney disease, Hyp...	OMIM:603278
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Anorexia, Renal insufficiency, Hyperammonemia, Splenomegaly, Hepatomegaly, Pancre...	ORPHA:79312
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Potocki-Shaffer Syndrome	Hypothyroidism, Delayed puberty, Decreased skull ossification	ORPHA:52022
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden...	ORPHA:858
Castleman Disease	Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, He...	ORPHA:160
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment	OMIM:601071
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus	OMIM:608320
Paternal Uniparental Disomy Of Chromosome 1	Progressive psychomotor deterioration, Proteinuria, Polyphagia, Episodic hemolytic anemia, Increa...	ORPHA:251004
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro...	OMIM:612885
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal f...	OMIM:251880
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Ascites, Hypocholesterolemia, Splenomegaly, Hepatomegaly, Atrial septal defect, ...	OMIM:608776
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Decreased liver function, Cholestasis, Elevated circulating creatinine concentra...	OMIM:608104
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos...	OMIM:618278
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circul...	OMIM:613038
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Progressive hearing impairment, Decreased serum testosterone concentratio...	ORPHA:453533
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Anterior pituitary agenesis, Osteopenia, Ectopic anterior pituitary ...	ORPHA:95494
Hypothyroidism, Congenital, Nongoitrous, 6	Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphalocele, Increased b...	OMIM:614450
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recu...	OMIM:620357
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia	OMIM:230350
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal sacroiliac joint...	ORPHA:1860
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,...	ORPHA:2639
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,...	ORPHA:166016
Congenital Generalized Lipodystrophy	Insulin resistance, Hypertrophic cardiomyopathy, Hyperinsulinemia, Hepatic steatosis, Amenorrhea,...	ORPHA:528
Relapsing Fever	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased total bil...	ORPHA:91547
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Limitation of joint mobility, Camptodactyly of finger, Low-set, posteriorly rotated ears, Hypothy...	ORPHA:2994
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Amelia, Short femur	OMIM:601357
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari...	OMIM:616515
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of...	OMIM:108720
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre...	OMIM:617056
Chromosome 1P35 Deletion Syndrome	Hearing impairment, Congenital hypothyroidism, Anterior creases of earlobe, Cryptorchidism, Senso...	OMIM:617930
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,...	OMIM:619991
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced ...	OMIM:210250
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Pseudohypoparathyroidism, Type Ic	Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ...	OMIM:612462
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary c...	OMIM:620454
Glut1 Deficiency Syndrome 2	Splenomegaly, Reduced haptoglobin level, Irritability, Reticulocytosis, Hemolytic anemia	OMIM:612126
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Hypothyroidism, Congenital, Nongoitrous, 5	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea...	OMIM:225250
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Failure to thrive, Cryptorchidism, Hypothyroidism, Delayed puberty, ...	ORPHA:95496
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypophosphatemia, Hypercal...	OMIM:616963
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph...	ORPHA:54251
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De...	OMIM:617514
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Weismann-Netter Syndrome	Squared iliac bones, Fibular bowing, Anterior tibial bowing, Lateral femoral bowing	OMIM:112350
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Hypothyroidism, Congenital, Nongoitrous, 9	Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le...	OMIM:301035
Aicardi-Goutieres Syndrome 9	Hepatosplenomegaly, Hepatic steatosis, Glomerular sclerosis, Hepatomegaly, Ascites, Renal insuffi...	OMIM:619487
Precocious Puberty, Central, 1	Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele...	OMIM:176400
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphade...	ORPHA:100024
Pseudohypoparathyroidism, Type Ia	Elevated circulating parathyroid hormone level, Hypogonadism, Obesity, Pseudohypoparathyroidism, ...	OMIM:103580
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Ddost-Cdg	Osteopenia, Lipodystrophy, Failure to thrive, Primary hypothyroidism	ORPHA:300536
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Dengue Fever	Ascites, Leukopenia, Thrombocytopenia, Hepatomegaly, Hypoproteinemia	ORPHA:99828
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Increased mean corpuscular volume, Methylmalonic aciduria, Hypomethioninemia, Meg...	OMIM:277410
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Microangiopathic hemolytic anemia, Confusion, Renal insufficiency, Reticuloc...	ORPHA:54057
Achondroplasia	Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Trident hand, Ulnar bowing, Short r...	OMIM:100800
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con...	ORPHA:158057
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating ferritin concentration, Cervical lymphadenopathy, Elevated circu...	OMIM:614034
Cowden Syndrome 1	Thyroid adenoma, Hearing impairment, Subcutaneous lipoma, Goiter, Ovarian cyst, Ovarian carcinoma...	OMIM:158350
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir...	OMIM:206100
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met...	OMIM:268305
Branchiootorenal Syndrome 1	Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Euthyroid goiter, I...	OMIM:113650
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nephropathy, Abnormality of the hepatic vasculature, Nodular regenerative hype...	ORPHA:247691
Immunodeficiency 43	Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le...	OMIM:241600
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop...	OMIM:212050
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi...	ORPHA:91349
Hawkinsinuria	Hypothyroidism, Failure to thrive	ORPHA:2118
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Diamond-Blackfan Anemia 7	Secundum atrial septal defect, Increased mean corpuscular volume, Tetralogy of Fallot, Horseshoe ...	OMIM:612562
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Bone marrow hypocellularity, Focal segmental glomerulosclerosis, Nephritis, Hype...	OMIM:617303
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing	OMIM:166740
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib...	ORPHA:2634
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transamina...	ORPHA:367
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:616278
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Situs inversus tot...	OMIM:613095
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Renal cyst, Cirrhosis, ...	OMIM:602579
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F...	ORPHA:56305
Mccune-Albright Syndrome	Precocious puberty, Hyperparathyroidism, Craniofacial hyperostosis, Pituitary adenoma, Increased ...	OMIM:174800
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	ORPHA:79477
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hypercalcemia, Nephrolithiasis, Recurrent pancreatitis, Polycystic kid...	OMIM:145001
Addison Disease	Normocytic anemia, Thymoma, Type I diabetes mellitus, Hypoglycemia, Decreased female libido, Hype...	ORPHA:85138
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Reni Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Mental deterioration, Steroid-resistant neph...	OMIM:617575
Hypothyroidism Due To Tsh Receptor Mutations	Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu...	ORPHA:90673
Poems Syndrome	Increased circulating prolactin concentration, Sclerosis of hand bone, Hypogonadism, Sclerosis of...	ORPHA:2905
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Decreased circulating apolipoprote...	OMIM:207750
Preeclampsia	Chronic kidney disease, Acute kidney injury, Abnormality of the hepatic vasculature, Elevated cir...	ORPHA:275555
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Co...	OMIM:269920
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Prolactinoma	Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon...	ORPHA:2965
Congenital Macroglossia	Hypothyroidism	ORPHA:2430
Congenital Disorder Of Glycosylation, Type Ii	Low-set ears, Joint hypermobility, Sensorineural hearing impairment, Decreased body weight, Hypot...	OMIM:607906
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H...	OMIM:608836
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas...	OMIM:218700
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	EEG abnormality, Hypothyroidism, Cryptorchidism, Inguinal hernia	OMIM:613970
Acute Adrenal Insufficiency	Normocytic anemia, Hypoglycemia, Renal insufficiency, Decreased female libido, Hyperuricemia, Hyp...	ORPHA:95409
Immunodeficiency 91 And Hyperinflammation	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute hepatic failure,...	OMIM:619644
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Hypercal...	OMIM:143880
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul...	OMIM:300972
Monosomy 13Q34	Insulin resistance, Hepatic steatosis, Metrorrhagia, Common atrium, Hypercalcemia, Pulmonic stenosis	ORPHA:96168
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomegaly, Anemi...	ORPHA:75563
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy...	OMIM:300635
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Osteopenia, Decreased response to growth hormone stimulation test,...	ORPHA:91348
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp...	OMIM:618892
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy	ORPHA:86893
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Infertility, Joint stiffness, Decreased libido, Hypog...	ORPHA:465508
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Pure red cell aplasia, Lymphopenia, Elevated urinary inosi...	OMIM:613179
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta...	OMIM:227270
Fatco Syndrome	Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology...	ORPHA:2492
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu...	OMIM:127550
Bent Bone Dysplasia Syndrome 2	Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing...	OMIM:620076
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc...	OMIM:620282
Acromesomelic Dysplasia, Hunter-Thompson Type	Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Hip dislocation, Short thumb, S...	ORPHA:968
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat...	ORPHA:284426
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowing, Hypoplastic ...	OMIM:608728
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Hypothyroidism	ORPHA:663
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Abnormal foot morphology, Upper limb under...	ORPHA:94068
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De...	OMIM:609628
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve...	ORPHA:71275
Lysosomal Acid Lipase Deficiency	Hepatosplenomegaly, Hypersplenism, Xanthelasma, Fatal liver failure in infancy, Cognitive impairm...	ORPHA:275761
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased seru...	OMIM:619046
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c...	OMIM:214900
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Adult-Onset Still Disease	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ...	ORPHA:829
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Reduced subcutaneous adipose tissue, Polycystic ovaries, Loss of gluteal subcut...	ORPHA:280356
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Femoral bowing, Osteosclerosis of the ulna, Bowing of the long bones...	OMIM:602080
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Infertility, Hypothyroidism	OMIM:264300
Al Amyloidosis	Hypoalbuminemia, Abnormal cardiac ventricle morphology, Howell-Jolly bodies, Abnormal heart morph...	ORPHA:85443
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Adamantinoma	Hypercalcemia	ORPHA:55881
Panhypophysitis	Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Sensor...	ORPHA:95513
Sandhoff Disease	Hepatomegaly, Splenomegaly, Motor deterioration, Progressive psychomotor deterioration	ORPHA:796
Babesiosis	Hepatic failure, Depression, Confusion, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocyt...	ORPHA:108
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,...	ORPHA:699
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:600995
Atelosteogenesis Type I	Rhizomelia, Micrognathia, Talipes equinovarus, Limb undergrowth, Abnormal ossification involving ...	ORPHA:1190
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi...	OMIM:251230
Adenohypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95512
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Equinovarus deformity, Short femoral neck, Flared metaphysis, Short palm, Broad foot, Aplasia/Hyp...	ORPHA:2502
Mcleod Syndrome	Dilated cardiomyopathy, Depression, Cardiomyopathy, Elevated circulating aspartate aminotransfera...	OMIM:300842
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti...	OMIM:601559
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Depression, Multiple small medullary renal cysts, Renal insuffici...	OMIM:600740
Acquired Aneurysmal Subarachnoid Hemorrhage	Memory impairment, Hyperglycemia, Leukocytosis, Left ventricular hypertrophy, Addictive alcohol u...	ORPHA:90065
Pituitary Carcinoma	Pituitary gonadotropic cell adenoma, Hearing impairment, Pituitary prolactin cell adenoma, Increa...	ORPHA:300385
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ...	OMIM:613070
Coproporphyria, Hereditary	Depression, Elevated urinary coproporphyrin level, Confusion, Increased urinary porphobilinogen, ...	OMIM:121300
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Anemia, Eosinophilia, Lymphadenopathy, Elevated circulating C-r...	OMIM:607115
X-Linked Agammaglobulinemia	Hepatitis, Hypocalcemia, Abnormality of the lymphatic system, Abnormality of the tonsils, Neutrop...	ORPHA:47
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Umbilical hernia, Decreased circulating T4 concentration, Abnormality of thyroid physiology, Redu...	ORPHA:95715
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis	OMIM:179700
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypochromic anemia, Cardiomyopathy, Leukocytosis, Splenomegaly, Hypoca...	ORPHA:289157
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr...	OMIM:605814
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Trichohepatoenteric Syndrome 1	Cholestasis, Ventricular septal defect, Cirrhosis, Cognitive impairment, Hepatomegaly, Jaundice, ...	OMIM:222470
Orofaciodigital Syndrome Ix	Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia	OMIM:258865
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Genu valgum, Fibu...	OMIM:600785
Aicardi-Goutieres Syndrome 6	Splenomegaly, Irritability, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	OMIM:615010
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th...	OMIM:620603
Resistance To Thyrotropin-Releasing Hormone Syndrome	Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra...	ORPHA:99832
Hyperparathyroidism 4	Hypercalcemia, Nephrolithiasis	OMIM:617343
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Glucagonoma	Intrahepatic cholestasis, Depression, Abnormal abdomen morphology, Increased circulating cortisol...	ORPHA:97280
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy	OMIM:601382
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia, Anorexia	ORPHA:2494
Developmental And Epileptic Encephalopathy 90	EEG with burst suppression, Hypothyroidism, Hypsarrhythmia	OMIM:301058
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria,...	OMIM:256300
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Athyreosis	Thyroid agenesis, Hypothyroidism	ORPHA:95713
Vipoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Asci...	ORPHA:97282
Coach Syndrome 2	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Eleva...	OMIM:619111
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Xanthelasma, Hepatic steatosis, Tubulointerstitial fibrosis, Cognitive impairment, Hepatomegaly, ...	ORPHA:79259
Microphthalmia With Limb Anomalies	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ...	ORPHA:1106
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Congenital hypothyroidism, Obesity, Abnormal pinna morphology, Large fleshy ears	ORPHA:352530
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno...	ORPHA:356961
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Flared metaphysis, Decreased fibular diameter, Micrognathia, Short ribs, Limb undergrowth, Adduct...	OMIM:616897
Alg1-Cdg	Hypoalbuminemia, Cardiomyopathy, Decreased liver function, Abnormal heart morphology, Renal insuf...	ORPHA:79327
Potocki-Lupski Syndrome	Failure to thrive, Hearing impairment, Hypothyroidism, EEG abnormality, Small for gestational age	OMIM:610883
Oculoskeletodental Syndrome	Nephrocalcinosis, Hypercalcemia, Hypocalcemia	ORPHA:557003
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Micropenis, Hypospadias, Hypercalciuria, Hypercalcemia	OMIM:614732
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Confusion, Reti...	OMIM:274150
Intellectual Disability-Strabismus Syndrome	Low-set ears, Joint contracture of the hand, Limitation of joint mobility, Failure to thrive, Hea...	ORPHA:363528
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Portal hypertension, Abnormality of the lymphatic system, Biliary t...	ORPHA:1414
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Li-Campeau Syndrome	Low-set ears, Hypothyroidism, Cryptorchidism	OMIM:619189
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Dorsocervical fat pad, Decreased body weight, Joint hypermobility, Sensorineural hearing impairme...	ORPHA:391408
Smith-Magenis Syndrome	Head-banging, Abnormal heart morphology, Onychotillomania, Self-mutilation, Hypercholesterolemia,...	OMIM:182290
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Hypothyroidism, Umbilical hernia	ORPHA:2349
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Alg6-Cdg	Hypoalbuminemia, Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver	ORPHA:79320
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypogonadotropic hypogonadism, Hypothyroidism, Cryptorchidism, Infertility	ORPHA:752
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Depression, Organic aciduria, Dementia, Sideroblastic anemia, Pappenheimer b...	OMIM:301310
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp...	ORPHA:98754
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Joint contracture of the hand, Foot joint contracture, Failure to thrive, Decreased motor nerve c...	ORPHA:456312
Somatostatinoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Asci...	ORPHA:97283
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Bamforth-Lazarus Syndrome	Congenital hypothyroidism, Thyroid agenesis	OMIM:241850
Intellectual Developmental Disorder, Autosomal Dominant 67	Hypothyroidism	OMIM:619927
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Anisocytosis, Lacticaciduria, Hepat...	OMIM:604273
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Nephrotic syndrome, Elevated circulating hepatic transaminase concentration, Typ...	ORPHA:37042
Galloway-Mowat Syndrome 6	Decreased response to growth hormone stimulation test, Hypothyroidism, Decreased body weight	OMIM:618347
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ...	OMIM:613490
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Sensorineur...	ORPHA:226307
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level...	OMIM:301110
Ravine Syndrome	Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight	ORPHA:99852
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Elevated circulating carcinoembryonic antigen concentratio...	ORPHA:100083
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Progressive hearing impairment, Decreased testi...	OMIM:616113
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmun...	OMIM:603909
Multiple Endocrine Neoplasia, Type Iib	Elevated circulating calcitonin concentration, Failure to thrive in infancy, Pheochromocytoma, Jo...	OMIM:162300
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Irregular iliac crest, Short iliac bones, Abnormality of the epiphysis...	ORPHA:93316
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Short humerus, Short ribs, Talipes equinovarus, Hypoplasia o...	OMIM:607143
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Hepatic ste...	ORPHA:79083
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp...	ORPHA:98793
Non-Functioning Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Elevated urina...	ORPHA:94080
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Dilated c...	OMIM:616730
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop...	ORPHA:381
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Anorexia, Jaundice, Elevated circulating crea...	ORPHA:99826
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Male hypogonadism, Type I diabetes mellitus, Cholelithiasis, Adrenal insufficiency, Primary adren...	OMIM:240300
Autosomal Dominant Progressive External Ophthalmoplegia	Failure to thrive, Hearing impairment, Goiter, Facial diplegia, Hypothyroidism, Hyperthyroidism, ...	ORPHA:254892
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru...	OMIM:119800
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Precocious puberty, Small pituitary gland, Osteopenia, Xerostomia, Central ...	ORPHA:398079
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Complete atrioventricular canal defect, Self-mutilation, Aggressive behavior, Atte...	ORPHA:476126
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp...	ORPHA:177904
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor...	ORPHA:93307
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:37748
Eosinophilic Gastroenteritis	Hypoalbuminemia, Ascites, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive pro...	ORPHA:2070
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp...	ORPHA:177901
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Congenital Disorder Of Glycosylation, Type Ij	Jaundice, Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Aggressive be...	OMIM:608093
Eisenmenger Syndrome	Bacterial endocarditis, Abnormal circulating B-type natriuretic peptide concentration, Increased ...	ORPHA:97214
2P21 Microdeletion Syndrome	Hypoglycemia, Hypogonadism, Hypocalcemia, Nephrolithiasis, Cystinuria	ORPHA:163693
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Hepatitis, Elevated circulating creatinine concentration, Confusion, Renal insuf...	ORPHA:36234
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul...	ORPHA:186
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hyponatre...	ORPHA:549
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Osteopenia, Insulin-resistant diabetes mellitus, Decreased response to...	ORPHA:3464
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Elevated circulating hepatic transaminase concentration, Glycosuria, Renal tubu...	OMIM:614817
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Cardiomyopathy, Hypogonadism	OMIM:608540
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Hearing impairment, Cryptorchidism, Sensorineural hearing impairment, Hypothyroidism, Delayed pub...	OMIM:616817
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Radial bowing, Ulnar deviated club hands, Fibular hypoplasia, Co...	OMIM:164900
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Elevated circulating hepatic transaminase concentration, Car...	ORPHA:88618
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Depression, Stage 5 chronic kidn...	ORPHA:94059
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Type I diabetes mellitus, Hearing impairment, Abnormal motor evoked potentials, Hypogonadism, Del...	ORPHA:412057
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Hyperbilirubinemia, P...	OMIM:259720
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Cystinosis	Type I diabetes mellitus, Rickets, Failure to thrive, Hypothyroidism, Delayed puberty, Nephrogeni...	ORPHA:213
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Failure to thrive, Hearing impairment, Decreased response to growth hormone stimulation test, Pan...	OMIM:618922
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Failure to thrive, Abnormal circulating aldosterone, Increased circulating AC...	OMIM:614736
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Osteopenia, Decreased testicular size, Cryptorchidism, Primary amenorrhea,...	OMIM:614880
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Left ventricular hypertrophy, Abnormal renal corti...	OMIM:616733
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Gaucher Disease Type 1	Hepatosplenomegaly, Hypersplenism, Pancytopenia, Hematuria, Cirrhosis, Anorexia, Hepatomegaly, El...	ORPHA:77259
14Q11.2 Microduplication Syndrome	Obesity, Hypothyroidism	ORPHA:261229
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal insufficiency, Hepatomegaly, Anemi...	ORPHA:457077
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Mental deterioration, Elevated circulating creatine kinase concentration, Hyperc...	OMIM:208920
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc...	ORPHA:882
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Elevated circulating aspartate aminotransfera...	OMIM:257200
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Hypoglycem...	OMIM:617093
Oocyte/Zygote/Embryo Maturation Arrest 14	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Ventricular septal defect, Thrombocyto...	ORPHA:261250
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Primary Myelofibrosis	Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg...	ORPHA:824
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis	OMIM:239199
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:614131
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Intellectual Developmental Disorder, Autosomal Dominant 52	Low-set ears, Bilateral cryptorchidism, Asymmetry of the ears, Cryptorchidism, Sensorineural hear...	OMIM:617796
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic...	OMIM:601859
Shox-Related Short Stature	Micrognathia, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ...	ORPHA:314795
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Nephrotic Syndrome, Type 9	Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:615573
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,...	ORPHA:2235
Infantile Myofibromatosis	Hypercalcemia, Neoplasm of the pancreas	ORPHA:2591
Mirage Syndrome	Hypospadias, Microphallus, Hypoglycemia, Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia,...	OMIM:617053
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5...	OMIM:617609
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hyp...	OMIM:616300
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Cinca Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactiv...	ORPHA:1451
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentratio...	ORPHA:85414
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:235400
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Proximal tubulopathy, Elevated circulating hepatic transaminas...	OMIM:212065
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper...	ORPHA:99879
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E...	OMIM:610755
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, Portal hypertension, Hyperinsulinemi...	ORPHA:79319
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Abnormal pericardium mo...	ORPHA:67
Bamforth-Lazarus Syndrome	Congenital hypothyroidism, Thyroid agenesis	ORPHA:1226
Alstrom Syndrome	Irregular menstruation, Progressive sensorineural hearing impairment, Insulin-resistant diabetes ...	OMIM:203800
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly	ORPHA:664
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo...	OMIM:277170
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Hematuria, Thrombocytope...	OMIM:185070
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Atelis Syndrome 1	Hypothyroidism, Glue ear, Microtia	OMIM:620184
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Hypocalcemia, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:259700
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficiency, Proteinu...	ORPHA:567544
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Chronic k...	ORPHA:656
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he...	OMIM:613027
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,...	OMIM:617519
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Brain-Lung-Thyroid Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Congenital hyp...	ORPHA:209905
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Hypocystinemia, Bicuspid aortic valve, Atrial septal defect, Decreased serum...	OMIM:617744
Cowden Syndrome	Follicular thyroid carcinoma, Failure to thrive, Hearing impairment, Goiter, Neoplasm of the thyr...	ORPHA:201
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia, Proteinuria, Nephrotic syndrome	OMIM:614652
Prader-Willi Syndrome	Premature adrenarche, Xerostomia, Central adrenal insufficiency, Cryptorchidism, Primary amenorrh...	ORPHA:739
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:614376
Fish-Eye Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy	ORPHA:79292
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Progressive hearing impairment, Decreased response to growth hormone stimulation test, Umbilical ...	OMIM:619234
19P13.12 Microdeletion Syndrome	Precocious puberty, Low-set ears, Conductive hearing impairment, Obesity, Cryptorchidism, Sensori...	ORPHA:254346
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating amyloid A concentrat...	OMIM:619750
Silver-Russell Syndrome Due To A Point Mutation	Low-set ears, Cryptorchidism, Inguinal hernia, Dysmenorrhea, Hypothyroidism, Small for gestationa...	ORPHA:397590
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Low-set ears, Ectopic thyroid, Failure to thrive, Camptodactyly of finger, Cryptorchidism, Abnorm...	ORPHA:3047
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular...	OMIM:145981
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Aregenerative Anemia	Bone marrow hypocellularity, Depression, Fatigable weakness of skeletal muscles, Dementia, Pancyt...	ORPHA:101096
Lissencephaly Syndrome, Norman-Roberts Type	Dysphagia, Hypoplastic spleen, Atrial septal defect, Patent foramen ovale	ORPHA:89844
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Small pituitary gland, Central adrenal insufficiency, Reduced subcutaneous adipose tissue, Hypogo...	OMIM:612079
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop...	ORPHA:300373
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf...	OMIM:619418
Porphyria Due To Ala Dehydratase Deficiency	Depression, Restlessness, Abnormal fear-induced behavior, Purple urine, Confusion, Increased urin...	ORPHA:100924
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Nabais Sa-De Vries Syndrome, Type 2	Low-set ears, Failure to thrive in infancy, Protruding ear, Hypothyroidism, Posteriorly rotated e...	OMIM:618829
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	ORPHA:90038
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Gaucher Disease, Type Iii	Progressive neurologic deterioration, Depression, Dementia, Pancytopenia, Splenomegaly, Thrombocy...	OMIM:231000
Aggressive Systemic Mastocytosis	Decreased liver function, Ascites, Anorexia, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu...	ORPHA:98850
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Increased circulating cort...	ORPHA:97261
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Acrodysostosis 2 With Or Without Hormone Resistance	Congenital hypothyroidism, Obesity, Cryptorchidism, Advanced ossification of carpal bones, Diabet...	OMIM:614613
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Hepatomegaly	OMIM:620210
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618495
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Leukocytosis, Hematuria, Proteinuria, Thrombocytop...	ORPHA:90060
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Osteogenesis Imperfecta, Type X	Rhizomelia, Micromelia, Genu valgum, Micrognathia, Fibular bowing, Tibial bowing, Bowing of the l...	OMIM:613848
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Reduced sperm motility, Eleva...	ORPHA:730
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Primary Ciliary Dyskinesia	Abnormal sperm motility, Female infertility, Polysplenia, Atrial situs ambiguous, Abnormal heart ...	ORPHA:244
Tangier Disease	Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c...	OMIM:205400
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
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	OMIM:618329
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Multicystic kidney dysplasia, Increased mean corpusc...	OMIM:619774
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Thyroid Hormone Resistance, Selective Pituitary	Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti...	OMIM:145650
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Leuk...	OMIM:615673
Igg4-Related Kidney Disease	Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Pros...	ORPHA:449395
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Conductive hearing impairment, Decreased response to growth hormone stimu...	OMIM:609053
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Wilson Disease	Elevated circulating hepatic transaminase concentration, Depression, Hepatitis, Acute hepatic fai...	ORPHA:905
Nephronophthisis 2	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:602088
Galloway-Mowat Syndrome 8	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P...	OMIM:618349
Fucosidosis	Failure to thrive, Hearing impairment, Hypothyroidism, Hyperhidrosis, Lipoatrophy	ORPHA:349
Avian Influenza	Hypoalbuminemia, Acute kidney injury, Elevated circulating hepatic transaminase concentration, He...	ORPHA:454836
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Optic atrophy, Elevated circulating parathyroid hormone level, Elevated c...	OMIM:101800
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Pancreatitis, Hypercalcemia	OMIM:145980
Nephrotic Syndrome, Type 22	Stage 5 chronic kidney disease, Glomerular sclerosis, Nephrotic range proteinuria, Nephrotic synd...	OMIM:619155
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Splenom...	OMIM:301078
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility	OMIM:619009
Gracile Bone Dysplasia	Ascites, Hypocalcemia, Micropenis, Asplenia, Hypoplastic spleen	OMIM:602361
Dystonia 28	Precocious puberty, Hypothyroidism	ORPHA:589618
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Diamond-Blackfan Anemia 1	Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce...	OMIM:105650
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Sensorineural hearing impairment, Protruding ear, Joint hypermobility, Hypothyroidism...	ORPHA:2479
Mucopolysaccharidosis, Type Iiib	Progressive neurologic deterioration, Heparan sulfate excretion in urine, Splenomegaly, Cardiomeg...	OMIM:252920
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase...	ORPHA:14
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Generalized Pustular Psoriasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Lymphopenia, Leukocytos...	ORPHA:247353
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Orofaciodigital Syndrome X	Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly	OMIM:165590
B4Galt1-Cdg	Low-set ears, Hypothyroidism, Small for gestational age	ORPHA:79332
Osteopetrosis, Autosomal Recessive 9	Anemia, Elevated circulating creatinine concentration, Hyperkalemia, Stage 3 chronic kidney disease	OMIM:620366
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Low-set ears, Type I diabetes mellitus, Failure to thrive in infancy, Limited elbow extension, Ha...	OMIM:613385
Roifman Syndrome	Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopa...	OMIM:616651
Sarcoidosis	Nephrocalcinosis, Hepatic failure, Decreased liver function, Abnormal lymph node morphology, Hemo...	ORPHA:797
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Bone marrow hypocellularity, Abnormal heart morphology, Hypertrophic cardiomyopa...	ORPHA:505248
Nephronophthisis-Like Nephropathy 2	Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal ...	OMIM:619468
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Hypothyroidism, Hypohidrosis	ORPHA:1882
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	ORPHA:79301
Hyperprolactinemia	Oligomenorrhea, Female infertility, Menorrhagia	OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia, Abnormal circulating C-reactive prote...	OMIM:620514
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Wolfram Syndrome 1	Optic atrophy, Hearing impairment, Sensorineural hearing impairment, Hypothyroidism, Testicular a...	OMIM:222300
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Pes planus, Brachydactyly, Met...	OMIM:620494
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Hypocalcemia, Nephrolithiasis, Polyphagia, Cystinuria, Neonatal hypoglycemi...	OMIM:606407
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Hypothyroidism, Hyperthyroidism	ORPHA:48377
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran...	OMIM:602347
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl...	ORPHA:3320
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic tra...	OMIM:607765
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Autosomal Dominant Optic Atrophy, Classic Form	Optic atrophy, Hypogonadism, Sensorineural hearing impairment, Hypothyroidism, Diabetes mellitus,...	ORPHA:98673
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Osteopenia, Hearing impairment, Absence of seco...	ORPHA:2232
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Fluctuating splenomegaly, Hepatosplenome...	OMIM:610377
Smith-Magenis Syndrome	Precocious puberty, Conductive hearing impairment, Failure to thrive in infancy, Obesity, Joint s...	ORPHA:819
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Diabetes me...	ORPHA:1215
Small Cell Carcinoma Of The Bladder	Dysuria, Hematuria, Hypercalcemia	ORPHA:284400
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Increased circulating cort...	ORPHA:97278
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Nephrocalcinosis, Restrictive cardiomyopathy, Abnormal heart morphology, Renal cyst, Hypercalciur...	ORPHA:369837
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Laron Syndrome	Hypoplasia of penis, Hypercholesterolemia, Hypoglycemia	ORPHA:633
Whipple Disease	Insulin resistance, Depression, Polydipsia, Splenomegaly, Hyponatremia, Hepatomegaly, Anemia, Ere...	ORPHA:3452
Wolman Disease	Hepatomegaly, Splenomegaly, Acute hepatic failure	OMIM:620151
Chromosome 2Q37 Deletion Syndrome	Obesity, Hypothyroidism, Sensorineural hearing impairment	OMIM:600430
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Dysmenorrhea, P...	ORPHA:2348
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Neonatal Lupus Erythematosus	Hepatic failure, Dilated cardiomyopathy, Aplastic anemia, Elevated circulating hepatic transamina...	ORPHA:398124
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,...	OMIM:193700
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg...	OMIM:618935
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Sheehan Syndrome	Central adrenal insufficiency, Sensorineural hearing impairment, Decreased serum estradiol, Breas...	ORPHA:91355
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Maturity-onset diabetes of the young	ORPHA:254531
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Neuraminidase Deficiency	Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-li...	OMIM:256550
Tularemia	Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Confusion, Abnormal nasopharyngeal ad...	ORPHA:3392
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Kawasaki Disease	Hypoalbuminemia, Sterile pyuria, Double outlet right ventricle with subpulmonary ventricular sept...	ORPHA:2331
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Srd5A3-Cdg	Decreased response to growth hormone stimulation test, Optic atrophy, Hypothyroidism	ORPHA:324737
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Hepatomegaly,...	OMIM:617591
Magel2-Related Prader-Willi-Like Syndrome	Precocious puberty, Small pituitary gland, Osteopenia, Xerostomia, Central hypothyroidism, Failur...	ORPHA:398069
Isolated Atp Synthase Deficiency	Hypogonadism, Optic atrophy, Hypothyroidism, Sensorineural hearing impairment	ORPHA:254913
Congenital Rubella Syndrome	Type I diabetes mellitus, Splenomegaly, Ventricular septal defect, Hepatomegaly, Atrial septal de...	ORPHA:290
Stüve-Wiedemann Syndrome	Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Elbow flexion contracture, Abn...	ORPHA:3206
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin...	ORPHA:230
Adiposis Dolorosa	Obesity, Hypothyroidism, Xerostomia, Arthritis	ORPHA:36397
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Hypertrophic cardiomyopathy...	OMIM:276700
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Depression, Hy...	OMIM:212750
Neurodevelopmental Disorder With Language Delay And Seizures	Hypothyroidism, Hypothalamic hamartoma, Cryptorchidism	OMIM:619908
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Recurrent otitis media, Joint hypermobility, Hypothyroidism, Hyperthyroidism, Diabetes mellitus, ...	ORPHA:449291
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Depression, Hyperphosphatemia, Hypocalcemic tetany, Confusion, Hypocalce...	ORPHA:36913
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Lig4 Syndrome	Failure to thrive, Type II diabetes mellitus, Cryptorchidism, Amenorrhea, Hypothyroidism, Small f...	OMIM:606593
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,...	OMIM:603903
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br...	OMIM:223800
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Stage...	ORPHA:329918
Timothy Syndrome	Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect,...	OMIM:601005
Metaphyseal Chondrodysplasia, Jansen Type	Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria, Hypophosphatemia, Hypercalcemia	OMIM:156400
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hypocalce...	OMIM:617913
Ring Chromosome 12 Syndrome	Low-set ears, Symphalangism of the thumb, Breast hypoplasia, Cryptorchidism, Hypothyroidism, Smal...	ORPHA:1439
Cowden Syndrome 7	Hashimoto thyroiditis, Ductal carcinoma in situ, Papillary thyroid carcinoma, Goiter	OMIM:616858
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia...	OMIM:620152
Neuroleptic Malignant Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, ...	ORPHA:94093
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating T4 concentration	OMIM:603373
4H Leukodystrophy	Optic atrophy, Decreased response to growth hormone stimulation test, Abnormality of thyroid phys...	ORPHA:289494
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden...	ORPHA:39041
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, E...	OMIM:611881
Roifman Syndrome	Hepatosplenomegaly, Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Ly...	ORPHA:353298
Gray Platelet Syndrome	Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia	ORPHA:721
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Multiple Endocrine Neoplasia Type 4	Thymoma, Increased circulating cortisol level, Fasting hyperinsulinemia, Increased urinary cortis...	ORPHA:276152
Glucose-Galactose Malabsorption	Renal insufficiency, Nephrolithiasis, Hematuria, Hypercalcemia, Hypernatremia	ORPHA:35710
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, St...	OMIM:618348
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coomb...	OMIM:304790
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Familial Adenomatous Polyposis	Abnormal cementum morphology, Neoplasm of the gallbladder, Pituitary adenoma, Goiter, Pancreatic ...	ORPHA:733
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Anorexia, Hepatomegaly	ORPHA:391
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Type I diabetes mellitus, Dilated cardiomyopathy, Elevated circulati...	OMIM:615688
Seckel Syndrome 7	Primary amenorrhea, Central hypothyroidism, Microtia	OMIM:614851
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,...	OMIM:600002
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Failure to thrive, Congenital sensorineural hearing impairment, Sensorineural hearing impairment,...	OMIM:619147
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical...	ORPHA:50918
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Irritability, Hypocalcemic seizures	OMIM:146200
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Low-set ears, Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Pancrea...	OMIM:610199
Maternal Uniparental Disomy Of Chromosome 2	Contractures of the large joints, Bilateral cryptorchidism, Decreased response to growth hormone ...	ORPHA:96179
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade...	ORPHA:47612
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Acute kidney injury, Impotence, Anorexia, Elevated circulating creatinine conc...	ORPHA:49041
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Low-set ears, Hypothyroidism, Posteriorly rotated ears, Hearing impairment	OMIM:617763
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphade...	ORPHA:100026
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased serum bile ac...	OMIM:242150
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Glucose...	OMIM:615630
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Polydipsia, Renal hamartoma, Pancreatic adenocarcinoma, Renal insufficiency, Ne...	ORPHA:99880
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Ele...	OMIM:618048
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Hypospadias, Elevated circulating creatinine c...	OMIM:137920
Cenani-Lenz Syndrome	Synostosis of joints, Synostosis of carpal bones, Hearing impairment, Abnormal dental enamel morp...	ORPHA:3258
Monosomy 18P	Protruding ear, Hypothyroidism, Abnormal antihelix morphology, Macrotia	ORPHA:1598
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno...	OMIM:610333
Acetazolamide-Responsive Myotonia	Hypothyroidism	ORPHA:99736
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T...	ORPHA:294
Gaucher Disease Type 2	Hepatomegaly, Dysphagia, Splenomegaly	ORPHA:77260
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Proximal tubulopathy, Elevated circulating hepatic transaminase concen...	OMIM:614576
Atelosteogenesis, Type Iii	Rhizomelia, Tombstone-shaped proximal phalanges, Radial bowing, Sandal gap, Knee dislocation, Mic...	OMIM:108721
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Fragile X Tremor/Ataxia Syndrome	Premature ovarian insufficiency, Hypothyroidism, Impotence, Hearing impairment	OMIM:300623
Parathyroid Carcinoma	Nephrocalcinosis, Polydipsia, Renal hamartoma, Pancreatic adenocarcinoma, Renal insufficiency, Ne...	ORPHA:143
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio...	OMIM:246700
Fibronectin Glomerulopathy	Hypoalbuminemia, Renal insufficiency, Proteinuria, Nephrotic syndrome, Microscopic hematuria	ORPHA:84090
Immunodeficiency 10	Hypoglycemia, Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopat...	OMIM:612783
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Temple Syndrome	Hypercholesterolemia, Maturity-onset diabetes of the young, Hypertriglyceridemia	OMIM:616222
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G...	ORPHA:276621
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hypothyroidism, Failure to thrive, Joint contracture	OMIM:618005
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Elevated circulating creatinine concentrati...	OMIM:174000
Mosaic Variegated Aneuploidy Syndrome 2	Low-set ears, Hearing impairment, Decreased response to growth hormone stimulation test, Hypothyr...	OMIM:614114
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Allan-Herndon-Dudley Syndrome	Decreased body mass index, Failure to thrive in infancy, Abnormality of thyroid physiology, Crypt...	ORPHA:59
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
9Q31.1Q31.3 Microdeletion Syndrome	Dilated cardiomyopathy, Type II diabetes mellitus, Bicuspid aortic valve, Hypercholesterolemia, R...	ORPHA:401923
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Decreased response to growth hormone stimulation test, Stenosis of the external auditory canal, C...	OMIM:601427
Hyperlipidemia, Familial Combined, 3	Increased LDL cholesterol concentration, Xanthelasma, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Stiff Person Spectrum Disorder	Hypothyroidism, Diabetes mellitus, Hyperhidrosis	ORPHA:3198
Amyloidosis, Hereditary Systemic 2	Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome	OMIM:105200
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H...	OMIM:179800
Albers-Schönberg Osteopetrosis	Anemia, Hypocalcemia, Abnormal leukocyte morphology	ORPHA:53
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate...	OMIM:601847
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Cardiomyopathy, Hypoglycemia, Leukopenia, Stage 5 chronic kidney disease,...	OMIM:251000
Dysbetalipoproteinemia	Increased LDL cholesterol concentration, Xanthelasma, Hepatic steatosis, Hypertriglyceridemia, Hy...	ORPHA:412
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm...	OMIM:610978
Omodysplasia 1	Rhizomelia, Short tibia, Limited knee flexion/extension, Micrognathia, Short humerus, Fibular hyp...	OMIM:258315
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype...	ORPHA:529808
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypothyroidism	ORPHA:2491
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype...	ORPHA:529799
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Camptodactyly of finger, Micrognathia, Mesomelic/rhizom...	ORPHA:2839
Aapoaiv Amyloidosis	Chronic kidney disease, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentratio...	ORPHA:439232
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Nephrotic Syndrome, Type 6	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c...	OMIM:614196
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc...	ORPHA:64753
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Dilated cardiomyopathy, Abnormal circu...	ORPHA:89842
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Hyperparathyroidism, Transient Neonatal	Fractured rib, Metaphyseal spurs, Femoral bowing, Short ribs, Short long bone, Short femur	OMIM:618188
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Small pituitary gland, Cryptorchidism, Sensorineural hearing impairment, Hypogonadotropic hypogon...	OMIM:612702
Caffey Disease	Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs	OMIM:114000
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Recurrent otitis media, Type I diabetes mellitus, Hypothyroidism	OMIM:620430
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo...	OMIM:232220
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Cognitive impairment, Elevated circulating alpha-fetoprote...	OMIM:616267
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy...	ORPHA:277
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Low-set ears, Umbilical hernia, Cryptorchidism, Sensorineural hearing impairment, Hypothyroidism	ORPHA:85321
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla...	OMIM:601455
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Irritabil...	OMIM:613489
Thyroid Ectopia	Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Abnormality of ...	ORPHA:95712
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Decreased circulating renin level, Hyponatremia, Irritability, Hyposthenuria, Red...	OMIM:300539
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Intestinal lymphangiectasia, Horseshoe kidney, Vesicoureteral reflux, Ventricula...	OMIM:235510
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Lipoma, Posteriorly rotated ears, Multinodular goiter	OMIM:620189
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Type I diabetes mellitus, Failure to thrive in infancy, Low-set, posteriorly rotated ears, Hypoth...	ORPHA:228426
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Short ribs, Postaxial polyda...	OMIM:617925
Alg12-Cdg	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia,...	ORPHA:79324
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79124
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Hypoglycemia, Elevated circulating pro...	OMIM:251110
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho...	ORPHA:405
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal...	OMIM:211900
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Craniopharyngioma	Optic atrophy, Hearing impairment, Increased circulating prolactin concentration, Hypopituitarism...	ORPHA:54595
Congenital Erythropoietic Porphyria	Red-brown urine, Purple urine, Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin ...	ORPHA:79277
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Oroticaciduria, Anisocytosis, Ventricular septal defect...	OMIM:258900
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Q Fever	Elevated circulating hepatic transaminase concentration, Granuloma, Hepatitis, Abnormal heart val...	ORPHA:781
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Hyperphosphatemia, Fatigable weakness of swallowing muscles, Eleva...	ORPHA:99845
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Aggressive behavior, Decreased serum cre...	OMIM:612736
Gangliocytoma	Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor...	ORPHA:251937
Williams Syndrome	Type II diabetes mellitus, Mitral valve prolapse, Ventricular septal defect, Overfriendliness, Bi...	ORPHA:904
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polydipsia, Hyperphosphatemia, Nephrolithiasis, Polyuria, Hypercalcemia	OMIM:617994
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	OMIM:606003
Reticular Dysgenesis	Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis	OMIM:267500
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	OMIM:151660
Hennekam Syndrome	Horseshoe kidney, Lymphopenia, Ascites, Splenomegaly, Hypocalcemia, Lymphadenopathy, Pulmonary ly...	ORPHA:2136
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Mental deterioration, Renal ins...	OMIM:254900
Autoinflammation, Immune Dysregulation, And Eosinophilia	Hypothyroidism, Failure to thrive	OMIM:618999
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hyperphosphaturia, Tooth abscess, Hypophosphatemia, Iron deficiency anemia	ORPHA:89937
Brucellosis	Hypersplenism, Glomerulonephritis, Anorexia, Hepatomegaly, Elevated circulating C-reactive protei...	ORPHA:1304
Giant Axonal Neuropathy	Joint hypermobility, Facial palsy, Abnormal pituitary gland morphology	ORPHA:643
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventri...	OMIM:616589
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Senior-Loken Syndrome 1	Nephronophthisis, Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidn...	OMIM:266900
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Depression, Viral hepatitis, Increased t...	ORPHA:2137
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hyperinsuli...	OMIM:269700
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Steatorrhea	ORPHA:75233
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Pleural Mesothelioma	Hepatomegaly, Dysphagia, Lymphadenopathy	ORPHA:50251
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Nephrotic Syndrome, Type 3	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:610725
Mody	Nephropathy, Abnormal oral glucose tolerance, Glycosuria, Pancreatic hypoplasia, Insulin-resistan...	ORPHA:552
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Immunodeficiency, Common Variable, 8, With Autoimmunity	Type I diabetes mellitus, Failure to thrive, Recurrent otitis media, Hypothyroidism, Arthritis, T...	OMIM:614700
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob...	ORPHA:66624
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Cholestasis, Hyperbilirubinemia, Dark urine, Congenital...	OMIM:619534
Double Outlet Right Ventricle	Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Hypocalcemia, Trun...	ORPHA:3426
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Cholestasis, Hypoketotic hypoglycemia, Hypocalcemia, Left ventricular hypertrophy...	ORPHA:746
Czech Dysplasia	Short toe, Flat capital femoral epiphysis, Narrow iliac wing, Coxa vara, Narrow femoral neck, Sho...	OMIM:609162
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypomagnesemia, Hypocalcemia, Hypokalemia, Anorexia, Anemia	OMIM:175500
Autosomal Dominant Dopa-Responsive Dystonia	Rheumatoid arthritis, Hypothyroidism, Progressive flexion contractures, Hearing impairment	ORPHA:98808
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Thyroid Hypoplasia	Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Acute Promyelocytic Leukemia	Anorexia, Leukopenia, Pancytopenia, Leukocytosis, Metrorrhagia, Hematuria, Addictive alcohol use,...	ORPHA:520
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macrocytic anemia, Anisocytosis, P...	OMIM:300835
H Syndrome	Microcytic anemia, Hypogonadism, Hepatosplenomegaly, Azoospermia, Amenorrhea, Lymphadenopathy, Hy...	ORPHA:168569
Pseudohypoparathyroidism Type 1B	Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease...	ORPHA:94089
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ...	OMIM:307800
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ...	OMIM:616217
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating hepatic transa...	OMIM:620138
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Reduced natural killer cell count, Hepatitis, Anorexia, Decreased proportion of ...	OMIM:619381
Fibrous Dysplasia Of Bone	Precocious puberty in females, Rickets, Increased circulating cortisol level, Hearing impairment,...	ORPHA:249
Colchicine Poisoning	Oliguria, Hypomagnesemia, Leukocytosis, Hypocalcemia, Renal insufficiency, Hypokalemia, Hyponatre...	ORPHA:31824
Multifocal Atrial Tachycardia	Hypothyroidism, Cryptorchidism	ORPHA:3282
Immunodeficiency 87 And Autoimmunity	Biventricular hypertrophy, Lymphopenia, Decreased CD4:CD8 ratio, Cholestasis, Hepatic steatosis, ...	OMIM:619573
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp...	ORPHA:90363
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Ascites, Renal insufficiency, Splenomegaly, Hematuria, Proteinur...	ORPHA:36412
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Az...	OMIM:602782
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypoglycemia, Insulinoma, Pancreatic islet cell adenoma, Hy...	OMIM:131100
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Femoral-Facial Syndrome	Short fifth metatarsal, Toe syndactyly, Hypoplastic acetabulae, Absent vertebra, Preaxial hand po...	OMIM:134780
Pyknoachondrogenesis	Short iliac bones, Micromelia, Short ribs, Aplastic pubic bone, Short long bone, Abnormal iliac w...	ORPHA:3003
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral dens...	OMIM:620558
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Lympho...	ORPHA:100
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces...	ORPHA:2686
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Hyperbilirubinemia, Abnormal erythro...	ORPHA:288
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Farber Lipogranulomatosis	Hepatomegaly, Irritability, Splenomegaly, Lipogranulomatosis	OMIM:228000
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertriglyceridemia, Hepatomegaly, Acute pan...	OMIM:608600
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G...	ORPHA:29072
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hepatomegaly, Hypophosphatemia, ...	ORPHA:667
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Type I diabetes mellitus, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia...	ORPHA:436159
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Re...	ORPHA:83313
Congenital Disorder Of Glycosylation, Type Iit	Urinary incontinence, Hypotriglyceridemia, Iron deficiency anemia, Decreased HDL cholesterol conc...	OMIM:618885
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Sensorineural hearing impairment, Craniosynostosis, Increased ...	OMIM:241520
Syndromic Diarrhea	Hepatic fibrosis, Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Lymphopenia, ...	ORPHA:84064
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, He...	OMIM:610717
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Failure to thrive, Exocrine pancreatic insufficiency, Sensorineural hearing impairment, Hypothyro...	OMIM:616263
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs...	OMIM:263520
Agammaglobulinemia, X-Linked	Cor pulmonale, Lymph node hypoplasia, Prostatitis, Neutropenia, B lymphocytopenia, Anemia, Entero...	OMIM:300755
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Renal hypoplasia, Hepatic failure, Elevated circulating hepat...	OMIM:118450
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Tibial bowing, Abnormality of the lower limb, Bowing of the long bon...	ORPHA:3035
Bartter Syndrome, Type 1, Antenatal	Nephrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Renal potassium wasting, Hy...	OMIM:601678
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Anemia, Mediastinal lymph...	ORPHA:83469
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly...	ORPHA:79456
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Alexander Disease	Precocious puberty, Osteopenia, Failure to thrive, Hypothyroidism, Hyperhidrosis, Abnormal autono...	ORPHA:58
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Hyperlipidemia, Sple...	ORPHA:565612
Pancreatic insufficiency, combined exocrine	Exocrine pancreatic insufficiency, Hypoproteinemia	OMIM:260450
Osteopetrosis With Renal Tubular Acidosis	Proximal renal tubular acidosis, Bone marrow hypocellularity, Pancytopenia, Leukopenia, Distal re...	ORPHA:2785
Monosomy 18Q	Secondary growth hormone deficiency, Bilateral conductive hearing impairment, Failure to thrive, ...	ORPHA:1600
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:185020
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small...	ORPHA:96334
Familial Mediterranean Fever	Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Orchitis, Hepatomegaly, Peritonitis, ...	OMIM:249100
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes...	OMIM:248370
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	OMIM:619463
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures, Male infe...	ORPHA:2239
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin	ORPHA:90037
Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Hy...	ORPHA:39812
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Distal Xq28 Microduplication Syndrome	Hypothyroidism, Microtia, Absent antihelix	ORPHA:293939
Kimura Disease	Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Pallister-Hall Syndrome	Precocious puberty, Atresia of the external auditory canal, Decreased response to growth hormone ...	OMIM:146510
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o...	ORPHA:85165
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul...	ORPHA:340
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Hepatosplenomegal...	OMIM:606367
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogonadism, Emotional lability, Splenomegaly, Irritability, Decreased serum zinc, Hepatomegaly	OMIM:201100
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Central hypothyroidism, Contracture of the proximal interphalangeal joint of the 2nd finger, Hear...	OMIM:300998
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Mohr-Tranebjaerg Syndrome	Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Abnorma...	ORPHA:52368
Williams-Beuren Syndrome	Obsessive-compulsive trait, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic val...	OMIM:194050
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Renal hypoplasia, Multilobulated spleen, Tetralogy of Fallot, Horseshoe ...	OMIM:601186
Gitelman Syndrome	Type II diabetes mellitus, Urinary incontinence, Tubulointerstitial nephritis, Renal potassium wa...	ORPHA:358
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Short femur	OMIM:617798
Koolen-De Vries Syndrome	Abnormal dental enamel morphology, Overfolded helix, Cryptorchidism, Joint hypermobility, Protrud...	ORPHA:96169
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Increased urinary cortisol level, Jaundice, Hypercalcemia, ...	ORPHA:913
American Trypanosomiasis	Cardiomyopathy, Splenomegaly, Hepatomegaly, Lymphadenopathy, Myocarditis	ORPHA:3386
Jung Syndrome	Hypothyroidism	ORPHA:2321
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Elevated circulatin...	ORPHA:542323
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Type II diabetes mellitus, Lymphadenopathy, Hepatomeg...	ORPHA:99812
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli...	ORPHA:2457
Tbck-Related Intellectual Disability Syndrome	EEG with generalized epileptiform discharges, Decreased response to growth hormone stimulation te...	ORPHA:488632
Spinal Cord Injury	Hypercalcemia, Urinary retention, Urinary bladder sphincter dysfunction	ORPHA:90058
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr...	OMIM:615605
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia	OMIM:618987
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Ly...	ORPHA:331206
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit...	OMIM:620303
Rabson-Mendenhall Syndrome	Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Reduced subcut...	ORPHA:769
Pediatric Systemic Lupus Erythematosus	Nephritis, Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Dark urine, Renal...	ORPHA:93552
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Decreased response to growth hormone stimulation test	OMIM:615925
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Short toe, Ulnar deviation of the 2nd finger, Genu valgum, Micro...	OMIM:616145
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Hip contracture, Bowing of th...	OMIM:210710
Acute Monoblastic/Monocytic Leukemia	Weight loss, Central hypothyroidism, Progressive hearing impairment	ORPHA:514
Tangier Disease	Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphade...	ORPHA:31150
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Low-set ears, Supernumerary nipple, Abnormal dental enamel morphology, Cryptorchidism, Inguinal h...	ORPHA:1812
Prader-Willi Syndrome	Self-injurious behavior, Decreased HDL cholesterol concentration, Hyperinsulinemia, Type II diabe...	OMIM:176270
Intrahepatic Cholestasis Of Pregnancy	Hypothyroidism, Abnormal pineal melatonin secretion, Small for gestational age	ORPHA:69665
Kenny-Caffey Syndrome, Type 1	Anemia, Hypocalcemia, Hypomagnesemia	OMIM:244460
Mixed Connective Tissue Disease	Nephropathy, Hemolytic anemia, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Myocardit...	ORPHA:809
Neuroblastoma	Elevated urinary homovanillic acid, Increased circulating ferritin concentration, Elevated urinar...	ORPHA:635
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath...	ORPHA:411634
Cartilage-Hair Hypoplasia	Cardiomyopathy, Hypocalcemia, Hepatomegaly, Mucopolysacchariduria, Cognitive impairment, Neutrope...	ORPHA:175
Mucopolysaccharidosis, Type Iiic	Heparan sulfate excretion in urine, Splenomegaly, Hyperactivity, Motor deterioration, Hepatomegal...	OMIM:252930
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den...	OMIM:214500
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Bardet-Biedl Syndrome 20	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Proteinuria, Pancreat...	OMIM:619471
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia, Maturity-onset diabetes of the young	ORPHA:96184
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia	OMIM:608184
Methimazole Embryofetopathy	Hypothyroidism, Abnormality of the thyroid gland	ORPHA:1923
Ohdo Syndrome, Sbbys Variant	Low-set ears, Hearing impairment, Cryptorchidism, Hypothyroidism, Posteriorly rotated ears	OMIM:603736
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Leukocytos...	OMIM:620565
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Depression, Abnormal circulating lipid concentration, Decreased ...	ORPHA:77293
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Hepatic failure, Postprandial hyperglyc...	ORPHA:2088
Congenital Pulmonary Lymphangiectasia	Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Aa Amyloidosis	Adrenal insufficiency, Hypothyroidism	ORPHA:85445
Combined Oxidative Phosphorylation Deficiency 33	EEG with burst suppression, Hypothyroidism, Sensorineural hearing impairment	OMIM:617713
Martin-Probst Syndrome	Low-set ears, Umbilical hernia, Cryptorchidism, Sensorineural hearing impairment, Hypoplastic nip...	OMIM:300519
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Abnormal helix morphology, Failure to thrive, Hearing impairment, Cryptorchidism, Hyp...	ORPHA:453499
Kaposiform Lymphangiomatosis	Pancreatic cysts, Hepatosplenomegaly, Splenomegaly, Abnormal lymphatic vessel morphology, Abnorma...	ORPHA:464329
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hyperinsulinemia, Hepati...	OMIM:608594
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Ventricular septal defect, Hydronephrosis, ...	ORPHA:163979
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Hypothyroidism, Hypohidrosis	ORPHA:1563
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	OMIM:613658
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Primary hypothyroidism	OMIM:225050
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Oligomeganephronia	Unilateral renal agenesis, Secundum atrial septal defect, Polydipsia, Bilateral renal hypoplasia,...	ORPHA:2260
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Beta-Ketothiolase Deficiency	Ketonuria, Hypoglycemia, Anorexia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Or...	ORPHA:134
Familial Multinodular Goiter	Sertoli cell neoplasm, Thyroid carcinoma, Multinodular goiter, Testicular seminoma, Ovarian neoplasm	ORPHA:276399
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating ...	OMIM:617388
Trichohepatoneurodevelopmental Syndrome	Low-set ears, Cholelithiasis, Exocrine pancreatic insufficiency, Recurrent otitis media, Decrease...	OMIM:618268
Immunodeficiency 102	Hypothyroidism	OMIM:301082
Immunodeficiency 31C	Osteopenia, Osteomyelitis, Hypothyroidism, Delayed puberty, Weight loss, Diabetes mellitus	OMIM:614162
Mogs-Cdg	Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Hypothyroid...	ORPHA:79330
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ...	ORPHA:139402
Neuhauser Syndrome	Cupped ear, Osteopenia, Large fleshy ears, Primary hypothyroidism	OMIM:249310
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Cockayne Syndrome Type 1	Optic atrophy, Male hypogonadism, Foot joint contracture, Failure to thrive, Hearing impairment, ...	ORPHA:90321
Waldenström Macroglobulinemia	Normocytic anemia, Memory impairment, Renal insufficiency, Splenomegaly, Hepatomegaly, Lymphadeno...	ORPHA:33226
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Hype...	ORPHA:73224
Sotos Syndrome	Hypospadias, Abnormal heart morphology, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic...	ORPHA:821
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Secondary Short Bowel Syndrome	Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Aganglionic megacolon, Weight ...	ORPHA:95427
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Scrub Typhus	Myocarditis, Splenomegaly, Renal insufficiency, Lymphadenopathy	ORPHA:83317
Smith-Lemli-Opitz Syndrome	Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Hepatomegaly, Hypo...	OMIM:270400
Short Stature, Microcephaly, And Endocrine Dysfunction	Cryptorchidism, Inguinal hernia, Sensorineural hearing impairment, Hypothyroidism, Truncal obesit...	OMIM:616541
Steinert Myotonic Dystrophy	Mental deterioration, Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, Emotional...	ORPHA:273
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutrophilia, Elevat...	OMIM:617099
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Hearing impairment, Increased circulating prolactin concentration, Generalized joint hypermobilit...	ORPHA:502423
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Increas...	OMIM:222700
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypocalcemia, Irritability, Hypophosphatemia, Hypocalcemic seizures	OMIM:264700
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Ascites, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceride...	OMIM:618183
Mucopolysaccharidosis, Type Iiia	Heparan sulfate excretion in urine, Splenomegaly, Hyperactivity, Hepatomegaly, Asymmetric septal ...	OMIM:252900
Nephrotic Syndrome, Type 8	Hypoalbuminemia, Chronic kidney disease, Stage 5 chronic kidney disease, Proteinuria, Diffuse mes...	OMIM:615244
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Joi...	OMIM:616881
Fibrochondrogenesis 1	Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones, Fibular hypop...	OMIM:228520
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythro...	OMIM:612541
Abdominal Obesity-Metabolic Syndrome 3	Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete...	OMIM:615812
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Ventricu...	OMIM:301068
Cerebrotendinous Xanthomatosis	Osteopenia, Cholelithiasis, Abnormal auditory evoked potentials, Optic atrophy, Abnormal motor ev...	ORPHA:909
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Type I diabetes mellitus, Hypothyroidism, Delayed puberty	OMIM:615952
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr...	OMIM:618150
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile...	ORPHA:731
Infection-Related Hemolytic Uremic Syndrome	Acute kidney injury, Oliguria, Brain abscess, Anuria, Leukocytosis, Hypocalcemia, Hyponatremia, D...	ORPHA:544482
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hearing impairment, Abnormality of exocrine pancreas physiology, Aplasia/Hypoplasia of the pancre...	ORPHA:93111
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Low-set ears, Optic atrophy, Contractures of the large joints, Failure to thrive, Congenital hypo...	OMIM:617527
Isolated Biliary Atresia	Failure to thrive, Hypopituitarism, Atretic gallbladder, Severe failure to thrive, Hypothyroidism...	ORPHA:30391
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism...	ORPHA:91351
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ...	ORPHA:958
Cholera	Acute kidney injury, Hypoglycemia, Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Decreas...	ORPHA:173
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility, Elevated circulating creatine kinase concent...	OMIM:619518
45,X/46,Xy Mixed Gonadal Dysgenesis	Ovarian serous cystadenoma, Hearing impairment, Bilateral cryptorchidism, Decreased serum testost...	ORPHA:1772
Aromatase Deficiency	Insulin resistance, Female infertility, Hyperlipidemia, Hepatic steatosis, Type II diabetes melli...	ORPHA:91
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Transcobalamin Ii Deficiency	Methylmalonic aciduria, Pancytopenia, Macrocytic anemia, Irritability, Erythroid hypoplasia, Hepa...	OMIM:275350
Spondyloenchondrodysplasia With Immune Dysregulation	Low-set ears, Rheumatoid arthritis, Recurrent otitis media, Sclerosis of skull base, Hypothyroidi...	OMIM:607944
Abcd Syndrome	Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Aganglionic m...	OMIM:600501
Oculocerebrorenal Syndrome Of Lowe	Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Motor stereotypy, Aminoaciduria, Se...	ORPHA:534
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Hyperkalemia...	OMIM:608885
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Chronic noninfec...	ORPHA:100093
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Abscess, Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concen...	OMIM:612852
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Decreased circulating parathyroid hormone level, Osteomalacia, Pathologic fracture, Hypophosphate...	ORPHA:157215
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:601596
Necrotizing Enterocolitis	Abnormal heart morphology, Ascites, Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hy...	ORPHA:391673
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Decreased liver function, Hypoglycemia, Elevated circulating aspar...	OMIM:608779
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Pheochromocytoma	Proteinuria, Renal artery stenosis, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171300
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro...	OMIM:615947
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Multinodular goiter	OMIM:618373
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Anemia, Thrombocytosis, Elevated circulating C-r...	OMIM:615934
Melas	Optic atrophy, Type I diabetes mellitus, Failure to thrive, Type II diabetes mellitus, Sensorineu...	ORPHA:550
Schimke Immuno-Osseous Dysplasia	Nephropathy, Bone marrow hypocellularity, Minimal change glomerulonephritis, Focal segmental glom...	ORPHA:1830
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, A...	ORPHA:760
Aicardi-Goutieres Syndrome 7	Hepatitis, Increased circulating ferritin concentration, Hypertrophic cardiomyopathy, Pancytopeni...	OMIM:615846
Pseudohypoparathyroidism, Type Ib	Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia	OMIM:603233
Cockayne Syndrome A	Irregular menstruation, Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potent...	OMIM:216400
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutrop...	ORPHA:859
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Hepatitis, Lymphopenia, Hepatosplenomegaly, Eosinophilia, Anorexia, Decreased proportion of CD3-p...	ORPHA:169160
Staphylococcal Necrotizing Pneumonia	Confusion, Leukopenia, Leukocytosis, Addictive alcohol use, Neutrophilia, Elevated circulating C-...	ORPHA:36238
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Elevated circulating creatinine concentration, Uroli...	OMIM:220150
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Renal insuffic...	OMIM:251290
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or pr...	ORPHA:83471
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Abnormal intrahepatic bile duct morphology, Mitra...	ORPHA:363618
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ...	OMIM:616329
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Gaucher Disease, Type I	Aortic valve stenosis, Hypersplenism, Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia,...	OMIM:230800
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Occipital Horn Syndrome	Aplastic clavicle, Humerus varus, Genu valgum, Avascular necrosis of the capital femoral epiphysi...	ORPHA:198
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy	OMIM:619183
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia, Anemia...	OMIM:620481
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Abnormal myocardium morphology, Lymphadenopath...	ORPHA:32960
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto...	OMIM:616084
Bilateral Polymicrogyria	Low-set ears, Central hypothyroidism, Facial diplegia, Abnormal glossopharyngeal nerve morphology...	ORPHA:268940
Glycogen Storage Disease Ii	Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatomegaly, Inc...	OMIM:232300
Gaucher Disease	Aortic valve calcification, Pancytopenia, Hematuria, Cirrhosis, Elevated circulating C-reactive p...	ORPHA:355
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating...	OMIM:248250
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie...	ORPHA:79233
22Q11.2 Deletion Syndrome	Renal hypoplasia, Cholelithiasis, Depression, Tetralogy of Fallot, Abnormal pulmonary valve morph...	ORPHA:567
Sepsis In Premature Infants	Oliguria, Decreased liver function, Leukocytosis, Splenomegaly, Reversible renal failure, Hepatom...	ORPHA:90051
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:618858
Dilated Cardiomyopathy With Ataxia	Bilateral sensorineural hearing impairment, Optic atrophy, Hypothyroidism, Bilateral cryptorchidism	ORPHA:66634
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl...	OMIM:613986
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Dysphag...	OMIM:219800
Prolidase Deficiency	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Prolonged neonatal j...	OMIM:170100
Cockayne Syndrome B	Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Limitation of join...	OMIM:133540
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Depression, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Fatigable weakness...	ORPHA:428
Macrocephaly/Autism Syndrome	Lymphopenia, Penile freckling, Short attention span, Splenomegaly, Hepatomegaly	OMIM:605309
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Renal insuffi...	ORPHA:293173
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Structural Heart Defects And Renal Anomalies Syndrome	Tetralogy of Fallot, Elevated circulating creatinine concentration, Renal insufficiency, Truncus ...	OMIM:617478
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Chronic hepatitis, Myocardial eosinophilic infiltration, Neutrophilia, Myelop...	ORPHA:3260
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Hypogonadism, Abnormal dental enamel morphology,...	ORPHA:221008
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Herpes Simplex Virus Encephalitis	Leukocytosis, Hyponatremia, Addictive alcohol use, Neutrophilia, Elevated circulating C-reactive ...	ORPHA:1930
Premature Ovarian Failure 22	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:620548
Cryoglobulinemic Vasculitis	Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Hepatomegaly...	ORPHA:91138
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Optic nerve compre...	ORPHA:79078
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Emotional lability, Hematuria, Neutrophilia, Hepatomegaly, Jaundice, Anorexia, Asci...	ORPHA:99827
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Eleva...	OMIM:216360
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Emotional lability, Glomerular sclerosis, Increase...	OMIM:223900
Meningioma	Increased circulating prolactin concentration, Neoplasm of the posterior pituitary, Enlarged pitu...	ORPHA:2495
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hep...	OMIM:620376
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc...	ORPHA:1333
Pseudohypoparathyroidism Type 1C	Depression, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemi...	ORPHA:79444
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Partial atrioventricular ...	OMIM:620423
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Sp...	OMIM:613327
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Intellectual Developmental Disorder, Autosomal Dominant 42	EEG with generalized epileptiform discharges, EEG with occipital slowing, Failure to thrive, EEG ...	OMIM:616973
Xfe Progeroid Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Ascites, Renal insuffic...	OMIM:610965
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Insulin resistance, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Hypertriglyceri...	ORPHA:280365
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia	ORPHA:93324
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Hepatomegaly, 3-Me...	OMIM:557000
Yellow Fever	Acute kidney injury, Anuria, Pancreatic hyperplasia, Elevated circulating creatinine concentratio...	ORPHA:99829
Galloway-Mowat Syndrome 10	Congenital hypothyroidism	OMIM:619609
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Micrognathia, Talipes, Talipes equinovarus, Pes planus, Clinodact...	OMIM:300990
Ataxia With Vitamin E Deficiency	Short term memory impairment, Xanthelasma, Increased LDL cholesterol concentration, Hypercholeste...	OMIM:277460
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Short humerus,...	OMIM:164745
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Asci...	ORPHA:75565
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Dementia, Splenomegaly, Fatal liver failure in infancy, Pr...	OMIM:257220
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis	OMIM:179830
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:606176
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic...	OMIM:603671
Fanconi Renotubular Syndrome 2	Osteopenia, Elevated circulating parathyroid hormone level, Rickets, Osteomalacia, Recurrent frac...	OMIM:613388
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis...	OMIM:154230
Pituitary Deficiency Due To Rathke Cleft Cysts	Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas...	ORPHA:91350
Lymphatic Malformation 6	Cellulitis, Cupped ear, Hearing impairment, Hypothyroidism, Hydrocele testis, Abnormal pinna morp...	OMIM:616843
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Depression, Ascites, Acute hepatic failure, Leukocytosis, Splenome...	ORPHA:342
Digeorge Syndrome	Unilateral renal agenesis, Cholelithiasis, Tetralogy of Fallot, Renal insufficiency, Splenomegaly...	OMIM:188400
Pseudoxanthoma Elasticum	Multiple lipomas, Hypothyroidism, Joint hypermobility	ORPHA:758
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ...	OMIM:610582
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v...	ORPHA:3144
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Treacher-Collins Syndrome	Conductive hearing impairment, Failure to thrive, Narrow internal auditory canal, Abnormal dental...	ORPHA:861
White-Kernohan Syndrome	Low-set ears, Recurrent otitis media, Obesity, Joint hypermobility, Simple ear, Hypothyroidism, M...	OMIM:619426
Koolen-De Vries Syndrome Due To A Point Mutation	Precocious puberty, Optic atrophy, Tracheomalacia, Hearing impairment, Decreased response to grow...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Precocious puberty, Optic atrophy, Tracheomalacia, Hearing impairment, Decreased response to grow...	ORPHA:363958
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II diabetes melli...	OMIM:269200
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Hypothyroidism, Juvenile rheumatoid arthri...	ORPHA:1855
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Sensorineural hearing impairment, Premature thelarche, Hypothyroidism, Premature p...	OMIM:616878
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Urogenital sinus anomaly, Abnor...	ORPHA:261529
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials	OMIM:617523
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of the liver, S...	ORPHA:1572
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Abnormal heart morphology, Atrial septal defect, Anemia, Refractory anemia	ORPHA:79076
Deafness, Autosomal Dominant 44	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:607453
Deafness, Autosomal Dominant 86	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:620280
Microform Holoprosencephaly	Panhypopituitarism, Hypothyroidism, Maternal diabetes	ORPHA:280200
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia, Irritability, Aggressive behavior, Hyperactivity, Premature ovarian insufficiency, M...	ORPHA:391307
Gaucher Disease Type 3	Aortic valve calcification, Dementia, Abnormal heart valve morphology, Pancytopenia, Splenomegaly...	ORPHA:77261
Myopathy, Mitochondrial, And Ataxia	Hearing impairment, Increased circulating prolactin concentration, Multiple lipomas, Hyperthyroid...	OMIM:617675
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly	OMIM:620296
Congenital Syphilis	Extramedullary hematopoiesis, Hypoglycemia, Hepatosplenomegaly, Prolonged neonatal jaundice, Anem...	ORPHA:499009
Campomelic Dysplasia	Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ...	ORPHA:140
Reynolds Syndrome	Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Cholestasis, Lymphope...	OMIM:613471
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Tapered finger, Short humerus, Short femur	OMIM:618367
Cousin Syndrome	Hypoplastic scapulae, Rhizomelia, Hypoplastic iliac wing, Fibular aplasia, Micrognathia, Dislocat...	OMIM:260660
Gaucher Disease, Perinatal Lethal	Progressive neurologic deterioration, Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly,...	OMIM:608013
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna...	OMIM:600383
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Absent nipple, Bilateral conductive hearing impairment, Atresia of the external aud...	OMIM:620186
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Splenomegal...	OMIM:230500
Lujo Hemorrhagic Fever	Mental deterioration, Oliguria, Elevated circulating hepatic transaminase concentration, Lymphope...	ORPHA:319213
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Bilateral sensorineural hearing impairment, Congenital hypothyroidism, Thyroid hypoplasia, Macrotia	ORPHA:521445
8Q24.3 Microdeletion Syndrome	Short 5th finger, Congenital hip dislocation, Microretrognathia, Micromelia, Finger clinodactyly,...	ORPHA:508488
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short femur, Short humerus, Polydactyly	ORPHA:17
Majeed Syndrome	Leukocytosis, Splenomegaly, Proteinuria, Hypochromic microcytic anemia, Congenital hypoplastic an...	ORPHA:77297
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Micropenis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Phace Association	Optic atrophy, Congenital hypothyroidism, Lingual thyroid, Horner syndrome, Optic nerve hypoplasia	OMIM:606519
Choreoacanthocytosis	Mental deterioration, Acanthocytosis, Emotional lability, Hair-pulling, Elevated circulating alan...	ORPHA:2388
Adult-Onset Autosomal Dominant Leukodystrophy	Impotence, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, A...	ORPHA:99027
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Anorexia, Neutrophilia	ORPHA:1302
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Dementia, Splenomegaly, Hepatomegaly, Motor stereotypy, Pr...	OMIM:607625
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve...	OMIM:260920
Cardiogenic Shock	Hepatomegaly, Elevated circulating creatinine concentration, Oliguria, Confusion	ORPHA:97292
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Aminoaciduria, Hypoglycemia, Elevated circulating creatine kinase concentration,...	OMIM:619055
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Maturity-onset diabetes of the young,...	OMIM:609812
Duplication Of The Pituitary Gland	Hearing impairment, Decreased body weight, Abnormal hypothalamus morphology, Abnormality of joint...	ORPHA:314621
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Decreased response to gro...	ORPHA:293978
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Splenomegaly, Leukocytosis	OMIM:618042
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme...	OMIM:616028
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Osteopenia, Conductive hearing impairment, Supernumerary nipple, Cry...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Osteopenia, Conductive hearing impairment, Supernumerary nipple, Cry...	ORPHA:352665
Psoriasis 14, Pustular	Elevated circulating C-reactive protein concentration, Cholangitis, Leukocytosis, Neutrophilia	OMIM:614204
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Low-set ears, Exocrine pancreatic insufficiency, Absence of subcutaneous fat, Cryptorchidism, Hyp...	OMIM:620005
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Cry...	OMIM:609136
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Optic atrophy, Hypothyroidism	OMIM:251900
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe...	OMIM:208500
Aicardi-Goutieres Syndrome 1	Hypothyroidism, Diabetes insipidus	OMIM:225750
Joubert Syndrome 38	Ectopic posterior pituitary, Low-set ears, Small pituitary gland, Decreased response to growth ho...	OMIM:619476
Pseudohypoparathyroidism Type 1A	Pituitary resistance to thyroid hormone, Ectopic ossification, Elevated circulating parathyroid h...	ORPHA:79443
Craniofacioskeletal Syndrome	Absent gallbladder, Hypocalcemia, Ventricular septal defect, Hydronephrosis, Atrial septal defect...	OMIM:300712
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233710
Ventilator-Induced Diaphragmatic Dysfunction	Hypothyroidism	ORPHA:505395
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Abnormal pinna morphology, Abnormality of the anterior pituitary, Posterior pituitary hypoplasia	ORPHA:75389
Alkaptonuria	Joint stiffness, Black pigment gallstones, Increased susceptibility to fractures, Hearing abnorma...	ORPHA:56
Bronchial Neuroendocrine Tumor	Abnormal pulmonary valve cusp morphology, Hepatic failure, Increased circulating cortisol level, ...	ORPHA:97287
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Mental deterioration, Inappropriate laughter, Hypocalcemia, Cognitive impairment	OMIM:618476
Johanson-Blizzard Syndrome	Ventricular septal defect, Elevated circulating alanine aminotransferase concentration, Atrial se...	OMIM:243800
Proteasome-Associated Autoinflammatory Syndrome 1	Irregular menstruation, Elevated circulating hepatic transaminase concentration, Decreased HDL ch...	OMIM:256040
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Renal insufficiency,...	OMIM:263200
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism	ORPHA:99927
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Proteinuria, Ab...	OMIM:123550
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233690
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome...	ORPHA:567546
3-Methylglutaconic Aciduria Type 7	Hypothyroidism	ORPHA:445038
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Hyperphosphatemia, Hepatic failure, Decreased liver function, Conf...	ORPHA:466650
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Cholestasis, Leukocytosis, Mitral valve prolapse, Hepatomegaly, Rig...	OMIM:620233
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase leve...	OMIM:102700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Increased B cell count, Absent peripheral lymph nodes in presence of infe...	ORPHA:98813
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent tib...	OMIM:200980
Gabriele-De Vries Syndrome	Low-set ears, Decreased response to growth hormone stimulation test, Breast hypoplasia, Cryptorch...	ORPHA:506358
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:619260
Pauci-Immune Glomerulonephritis	Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati...	ORPHA:93126
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Hypocalcemia	OMIM:600081
Myasthenia Gravis	Rheumatoid arthritis, Hearing impairment, Primary adrenal insufficiency, Hashimoto thyroiditis, H...	ORPHA:589
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Hypokalemia	OMIM:174900
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h...	ORPHA:131
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:333
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Central hypothyroidism, An...	ORPHA:798
Fg Syndrome Type 1	Small pituitary gland, Optic nerve hypoplasia, Cupped ear, Umbilical hernia, Slender build, Steno...	ORPHA:93932
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Low-set ears, Abnormality of the hypothalamus-pituitary axis, Failur...	OMIM:607932
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ...	ORPHA:99889
Ethylene Glycol Poisoning	Confusion, Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Euphoria, Dec...	ORPHA:31826
Familial Isolated Hypoparathyroidism	Nephropathy, Hypocalcemia	ORPHA:2238
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Splenomegaly, Mitral valve prolapse, Hypogonadotropic hypogonadism, Sp...	ORPHA:251066
Premature Ovarian Failure 6	Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ...	OMIM:612310
Trisomy 10P	Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Absent gallbladder...	ORPHA:171929
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cupped ear, Tracheomalacia, Hearing impairment, Conductive hearing impairment, Decreased response...	ORPHA:444077
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Multiple muscular ventricular septal defects, Hypernatremia, Pulmonic stenosis	OMIM:615508
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Small for gestational age, Hearing impairment, Decreased response to growth hormone stimulation t...	ORPHA:268261
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Ventricular septal d...	OMIM:243150
Hallermann-Streiff Syndrome	Tracheomalacia, Cryptorchidism, Hypothyroidism, Reduced bone mineral density, Recurrent fractures	ORPHA:2108
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Ventricular septal defect, Dysphagia, Hypopla...	OMIM:619503
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Neuroendocrine Tumor Of The Colon	Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase concentration...	ORPHA:100080
Intellectual Developmental Disorder, X-Linked 98	Hypsarrhythmia, Central hypothyroidism, Failure to thrive, Macrotia	OMIM:300912
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia, Nephrolithiasis	ORPHA:93160
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Lymphopenia, Leukopenia, Decreased proportion of CD4-posi...	OMIM:242840
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor...	ORPHA:3077
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Hepatic failure, Elevated circulating hepatic transamin...	ORPHA:100075
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo...	OMIM:617718
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Mucopolysacchariduria, Splenomegaly, Cognitive impairment	ORPHA:583
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia	OMIM:620443
Cranioectodermal Dysplasia 1	Chronic kidney disease, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failu...	OMIM:218330
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Biotinidase Deficiency	Hepatomegaly, Hyperammonemia, Organic aciduria, Splenomegaly	OMIM:253260
Nephroblastoma	Hematuria, Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Cutis Marmorata Telangiectatica Congenita	Hypothyroidism, Reduced bone mineral density	ORPHA:1556
Ataxia-Telangiectasia	Lymphopenia, Glucose intolerance, Decreased proportion of CD4-positive helper T cells, Abnormal B...	OMIM:208900
Premature Ovarian Failure 13	Amenorrhea, Oligomenorrhea, Female infertility	OMIM:617442
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:109120
Juvenile Polyposis Syndrome	Brain abscess, Hepatic arteriovenous malformation, Anemia, Extrahepatic portal hypertension, Hypo...	ORPHA:2929
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Beckwith-Wiedemann Syndrome	Otosclerosis, Hearing impairment, Abnormal pancreas morphology, Abnormal earlobe morphology, Exoc...	ORPHA:116
Fragile X-Associated Tremor/Ataxia Syndrome	Hypothyroidism, Impotence, Abnormal autonomic nervous system physiology	ORPHA:93256
Bardet-Biedl Syndrome	Irregular menstruation, Hearing impairment, Hypogonadism, Decreased testicular size, Obesity, Low...	ORPHA:110
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Hypothyroidism, Osteolysis, Hearing impairment	ORPHA:1052
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Premature Ovarian Failure 20	Female infertility, Secondary amenorrhea	OMIM:619938
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Abnormal heart morphology, Renal insufficiency, Hypocalcemia, Vesicour...	ORPHA:2237
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia	ORPHA:1827
Granulomatous Disease, Chronic, X-Linked	Granuloma, Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granu...	OMIM:306400
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Autoimmune Polyendocrinopathy Type 3	Thymoma, Type I diabetes mellitus, Rheumatoid arthritis, Xerostomia, Graves disease, Anterior pit...	ORPHA:227982
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Glucose intolerance, Emotional lability, Nephrolithiasis, Hypokal...	OMIM:219090
Porphyria, Congenital Erythropoietic	Cholelithiasis, Elevated circulating uroporphyrin concentration, Splenomegaly, Red urine, Hepatom...	OMIM:263700
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Hea...	ORPHA:206436
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Ja...	ORPHA:90033
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Turner Syndrome Due To Structural X Chromosome Anomalies	Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Cirrhosis,...	ORPHA:99413
Mosaic Monosomy X	Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Cirrhosis,...	ORPHA:99228
Monosomy X	Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Cirrhosis,...	ORPHA:99226
Turner Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Cirrhosis,...	ORPHA:881
Coccidioidomycosis	Granuloma, Abnormality of the spleen, Abnormality of the liver, Renal insufficiency, Abscess, Eos...	ORPHA:228123
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hydronephrosis, Iron de...	ORPHA:100078
Aicardi-Goutières Syndrome	Low-set ears, Multiple joint contractures, Hypothyroidism, Arthritis, Panniculitis, Diabetes mell...	ORPHA:51
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct...	OMIM:610532
Velocardiofacial Syndrome	Tetralogy of Fallot, Emotional lability, Hypocalcemia, Ventricular septal defect, Aggressive beha...	OMIM:192430
Immunodeficiency 110 With Lymphoproliferation	Secundum atrial septal defect, Lymphopenia, Autoimmune hemolytic anemia, Patent foramen ovale, Ne...	OMIM:614868
Microphthalmia, Syndromic 2	Anteverted ears, Cupped ear, Umbilical hernia, Adrenal insufficiency, Asymmetry of the ears, Cryp...	OMIM:300166
Tuberous Sclerosis 2	Precocious puberty, Hearing impairment, Hypothyroidism, Adenoma sebaceum, Shagreen patch	OMIM:613254
Papa Syndrome	Proteinuria, Type I diabetes mellitus, Lymphadenopathy	ORPHA:69126
Kenny-Caffey Syndrome, Type 2	Anemia, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia	OMIM:127000
Primrose Syndrome	Hearing impairment, Bilateral cryptorchidism, Macrotia, Reduced bone mineral density, Cryptorchid...	OMIM:259050
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Depr...	OMIM:124000
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Low-set ears, Hearing impairment, Abnormality of thyroid physiology, Joint hypermobility, Unilate...	OMIM:300968
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomer...	OMIM:617729
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Hypothyroidism, Macrotia	ORPHA:457212
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypospadias, Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Leprechaunism	Low-set ears, Central hypothyroidism, Failure to thrive, Hyperaldosteronism, Hyperinsulinemia, Re...	ORPHA:508
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Type I diabetes mellitus, Glucose intolerance, Recurrent pancreatitis, Hyperc...	OMIM:606721
1P36 Deletion Syndrome	Optic atrophy, Annular pancreas, Failure to thrive, Conductive hearing impairment, Camptodactyly ...	ORPHA:1606
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Wiedemann-Rautenstrauch Syndrome	Hypoplastic ilia, Clinodactyly, Slender long bone, Long foot, Micrognathia, Short humerus, Talipe...	OMIM:264090
Mucopolysaccharidosis Type 2	Progressive neurologic deterioration, Mental deterioration, Abnormal temper tantrums, Cardiomyopa...	ORPHA:580
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, Elevated circulating ...	ORPHA:91500
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon...	OMIM:615512
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Neuroendocrine Tumor Of The Rectum	Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase concentration...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase concentration...	ORPHA:100082
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland, Vertigo, Optic disc pallor, Severe sensorineural hearing impairment, Abnor...	OMIM:614195
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hearing impairment, Umbilical hernia, Epiphyseal stippling, Adrenal hypoplasia, Flexion contractu...	OMIM:308050
Interstitial Lung And Liver Disease	Hypothyroidism, Failure to thrive	OMIM:615486
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Congenital hypothyroidism, Cryptorchidism, Supernumerary nipple	ORPHA:2519
Gaucher Disease, Type Ii	Progressive neurologic deterioration, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Dysph...	OMIM:230900
Semilobar Holoprosencephaly	Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,...	ORPHA:220386
Alobar Holoprosencephaly	Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,...	ORPHA:93926
Lobar Holoprosencephaly	Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,...	ORPHA:93924
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperglycemia, Hyperbilirubinemia,...	OMIM:615710
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Depression, Chronic active hepatitis, Dementia, Lymphopenia...	ORPHA:289390
Sanjad-Sakati Syndrome	Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Coffin-Siris Syndrome 12	Low-set ears, Prominent antihelix, Failure to thrive, Large earlobe, Cryptorchidism, Joint hyperm...	OMIM:619325
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Congenital hypothyroidism, Limited elbow extension, Laryngotracheomalacia, Delayed os...	OMIM:271510
Behçet Disease	Memory impairment, Confusion, Renal insufficiency, Splenomegaly, Orchitis, Irritability, Abnormal...	ORPHA:117
Oncogenic Osteomalacia	Renal phosphate wasting, Hypophosphatemia, Hypocalcemia, Hyperphosphaturia	ORPHA:352540
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Optic atrophy, Compensated hypothyroidism, Sensorineural hearing impairment	ORPHA:480864
Tuberous Sclerosis 1	Precocious puberty, Dental enamel pits, Hypothyroidism, Adenoma sebaceum, Shagreen patch	OMIM:191100
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Hypothyroidism	OMIM:618569
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Type I diabetes mellitus, Primary hypothyroidism, Delayed puberty, Generalized osteop...	ORPHA:391487
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia	ORPHA:79396
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr...	ORPHA:293987
Osteopetrosis, Autosomal Recessive 7	Anemia, Hepatomegaly, Hypocalcemic seizures, Splenomegaly	OMIM:612301
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Erectile dysfunction, EEG abnormality	ORPHA:206448
Sweet Syndrome	Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Anemia, Acute myeloid leukemia,...	ORPHA:3243
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Rickets, Failure to thrive	ORPHA:411629
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Ascites, Anorexia, Chronic noninfectious...	ORPHA:100085
Neurooculorenal Syndrome	Ectopic posterior pituitary, Central hypothyroidism, Decreased circulating ACTH concentration, Cr...	OMIM:620305
Pierson Syndrome	Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Nephrotic syndrome, Hyp...	OMIM:609049
Gray Platelet Syndrome	Menorrhagia, Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia	OMIM:139090
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening...	OMIM:114290
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Menorrhagia, Increased mean pla...	OMIM:153670
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse me...	OMIM:251300
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Osteopenia, Increased circulating prolactin concentration, Cryptorchidism, Ut...	ORPHA:438213
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ...	ORPHA:101085
Charge Syndrome	Renal hypoplasia, Secundum atrial septal defect, Aplasia/Hypoplasia of the thymus, Tetralogy of F...	OMIM:214800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Noncompaction cardiomyopathy, Reticulocytop...	ORPHA:508542
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication...	OMIM:236680
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Optic atrophy, Conductive hearing impairment, Hearing impairment, Optic disc colobo...	OMIM:607872
Down Syndrome	Secundum atrial septal defect, Polycythemia, Tetralogy of Fallot, Atrioventricular canal defect, ...	ORPHA:870
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb...	ORPHA:729
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Failure to thrive, Pan...	ORPHA:2255
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Stage...	OMIM:309000
Holoprosencephaly-Postaxial Polydactyly Syndrome	Umbilical hernia, Low-set, posteriorly rotated ears, Cryptorchidism, Adrenal hypoplasia, Omphaloc...	ORPHA:2166
Down Syndrome	Conductive hearing impairment, Joint hypermobility, Aganglionic megacolon, Hypothyroidism, Microtia	OMIM:190685
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Type I diabetes mellitus, Elevated circulating hepatic transaminase concent...	OMIM:619525
Cranioectodermal Dysplasia 2	Portal fibrosis, Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Poly...	OMIM:613610
Fusariosis	Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Abnormality of the liver, Perit...	ORPHA:228119
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Hema...	ORPHA:2035
Periodic Fever, Familial, Autosomal Dominant	Cervical lymphadenopathy, Hepatomegaly, Hepatic amyloidosis	OMIM:142680
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Self-injurious behavior, Fixated interests, Emotional lability, Hypocalcemia, Ventricular septal ...	OMIM:620330
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Type I diabetes mellitus, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia	OMIM:620365
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
African Trypanosomiasis	Urinary incontinence, Abnormality of the menstrual cycle, Infertility, Hepatosplenomegaly, Renal ...	ORPHA:3385
Wiedemann-Rautenstrauch Syndrome	Hypoplastic ilia, Camptodactyly of finger, Short humerus, 2-3 toe syndactyly, Hypoplastic vertebr...	ORPHA:3455
Peripartum Cardiomyopathy	Abnormality of thyroid physiology, Diabetes mellitus, Obesity	ORPHA:563
Cushing Disease	Depression, Secondary amenorrhea, Increased circulating cortisol level, Memory impairment, Increa...	ORPHA:96253
Niemann-Pick Disease Type C	Progressive neurologic deterioration, Mental deterioration, Fetal ascites, Hepatic failure, Depre...	ORPHA:646
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
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
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Decreased proport...	ORPHA:331235
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Phace Syndrome	Hypothyroidism, Optic nerve hypoplasia, Ectopic thyroid	ORPHA:42775
Autoimmune Polyendocrinopathy Type 4	Thymoma, Type I diabetes mellitus, Rheumatoid arthritis, Xerostomia, Osteopenia, Anterior pituita...	ORPHA:227990
Pallister-Hall Syndrome	Auricular tag, Atresia of the external auditory canal, Hypopituitarism, Central adrenal insuffici...	ORPHA:672
Townes-Brocks Syndrome 1	Small for gestational age, Stahl ear, Umbilical hernia, Cryptorchidism, Lop ear, Sensorineural he...	OMIM:107480
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Mend Syndrome	Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Cryptorchidism, Wide anteri...	ORPHA:401973
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Lymphopenia, Vesicoureteral reflux, Patent foramen ovale, Hydronephrosis, Renal...	OMIM:618460
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Dysphagia, Thrombocytopenia, Acute pancreatitis	ORPHA:319218
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte...	ORPHA:100086
Igg4-Related Ophthalmic Disease	Orchitis, Eosinophilia, Prostatitis, Pancreatitis, Lymphadenopathy, Elevated circulating C-reacti...	ORPHA:449563
Thyrotoxic Periodic Paralysis	Graves disease, Obesity, Weight loss, Hyperhidrosis, Hyperthyroidism, Thyrotoxicosis with diffuse...	ORPHA:79102
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormal te...	ORPHA:2072
Systemic Lupus Erythematosus	Depression, Leukopenia, Hematuria, Proteinuria, Lupus nephritis, Lymphadenopathy, Thrombocytopeni...	ORPHA:536
Camurati-Engelmann Disease	Urinary retention, Hypertrophic cardiomyopathy, Hypogonadism, Leukopenia, Splenomegaly, Hepatomeg...	ORPHA:1328
Carney Triad	Ascites, Lymphadenopathy, Anorexia, Anemia, Mediastinal lymphadenopathy	ORPHA:139411
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Acrocardiofacial Syndrome	Low-set ears, Hyperthyroidism, Cryptorchidism, Camptodactyly of finger	ORPHA:2008
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Splenomegaly, Hepatomegaly, Generalized lymphadenopathy, Hypercalciuria, Anorexia, ...	OMIM:181000
Sponastrime Dysplasia	Precocious puberty, Delayed epiphyseal ossification, Ivory epiphyses of the phalanges of the hand...	ORPHA:93357
Blau Syndrome	Nephropathy, Abnormality of the liver, Stage 5 chronic kidney disease, Splenomegaly, Lymphadenopa...	ORPHA:90340
Wiskott-Aldrich Syndrome	Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Abno...	ORPHA:906
Lymphangioleiomyomatosis	Abnormal urinary color, Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic sys...	ORPHA:538
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Absent brainstem auditory responses, Vestibular areflexia	ORPHA:3240
Andersen Cardiodysrhythmic Periodic Paralysis	Low-set ears, Enamel hypoplasia, Hyperthyroidism, Joint hypermobility	OMIM:170390
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Hepatic steatosis...	ORPHA:391665
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Igg4-Related Submandibular Gland Disease	Abnormal pancreas morphology, Renal insufficiency, Eosinophilia, Prostatitis, Lymphadenopathy, Ch...	ORPHA:449432
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ...	ORPHA:35078
Hepatoerythropoietic Porphyria	Red-brown urine, Purple urine, Erythroid hyperplasia, Abnormal circulating porphyrin concentratio...	ORPHA:95159
Neuroendocrine Neoplasm Of Appendix	Elevated circulating hepatic transaminase concentration, Primary hypercortisolism, Chronic noninf...	ORPHA:100079
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Riddle Syndrome	Enuresis nocturna, Generalized lymphadenopathy, Emotional lability, Elevated circulating alpha-fe...	ORPHA:420741
Whim Syndrome	Lymphadenitis, Tetralogy of Fallot, Lymphopenia, Abnormal neutrophil morphology, Neutropenia	ORPHA:51636
Kabuki Syndrome 1	Low-set ears, Hearing impairment, Recurrent otitis media, Congenital hypothyroidism, Cryptorchidi...	OMIM:147920
Pmm2-Cdg	Hypoalbuminemia, Hepatic fibrosis, Insulin resistance, Elevated circulating hepatic transaminase ...	ORPHA:79318
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Missing ribs, Aplasia/hypoplasia of the femur, Clinodactyly of th...	ORPHA:2769
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Aplastic clavicle, Broad distal phalanx of finger, Bifid femur, Micromelia, Abnormal distal phala...	ORPHA:2636
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Low-set ears, Flexion contracture, Posteriorly rotated ears	OMIM:619479
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuria, Pancreatic hypoplasia,...	OMIM:600001
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Amenorrhea	OMIM:110100
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Genitopatellar Syndrome	Hearing impairment, Cryptorchidism, Knee flexion contracture, Hip contracture, Radioulnar synosto...	OMIM:606170
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto...	ORPHA:2753
Townes-Brocks Syndrome	Failure to thrive, Hearing impairment, Cryptorchidism, Hypothyroidism, Delayed puberty, Abnormal ...	ORPHA:857
Viss Syndrome	Low-set ears, Cupped ear, Failure to thrive, Umbilical hernia, Exostosis of the external auditory...	OMIM:619472
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia	ORPHA:93325
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia, Cognitive impairment, Abnormality of the pancreas	ORPHA:935
Doors Syndrome	Low-set ears, Optic atrophy, Atresia of the external auditory canal, Congenital hypothyroidism, A...	ORPHA:79500
Plague	Depression, Lymphadenitis, Splenomegaly, Delirium, Anorexia, Hepatomegaly, Enlarged mesenteric ly...	ORPHA:707
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment	ORPHA:309246
Alström Syndrome	Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m...	ORPHA:64
Kinsship Syndrome	Micrognathia, Fibular hypoplasia, Polydactyly, Coxa valga, Pes planus, Dislocated radial head, Hi...	OMIM:619297
Peters Plus Syndrome	Optic atrophy, Microtia, second degree, Conductive hearing impairment, Umbilical hernia, Low-set,...	ORPHA:709
Ovarian Dysgenesis 3	Female infertility, Primary amenorrhea	OMIM:614324
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Self-injurious behavior, Abnormal fear-induced behavior, Abnormal heart mo...	ORPHA:353281
Ring Chromosome 13 Syndrome	Macrotia, Posteriorly rotated ears, Hypoplasia of the gallbladder, Primary hypothyroidism	ORPHA:96176
Malakoplakia	Urinary bladder inflammation, Abnormality of the menstrual cycle, Urinary hesitancy, Follicular h...	ORPHA:556
Osteopathia Striata With Cranial Sclerosis	Fibular aplasia, Micrognathia, Fibular hypoplasia, Arachnodactyly, Talipes equinovarus, Paranasal...	OMIM:300373
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal ...	OMIM:614748
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Nephropathy, Decreased proportion of CD8-positive T cells, Lympho...	OMIM:301000
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Self-injurious behavior, Abnormal fear-induced behavior, Abnormal heart mo...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Self-injurious behavior, Abnormal fear-induced behavior, Abnormal heart mo...	ORPHA:353277
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Female infertility, Streak ovary, Decreased fertility, Oligomenorrhea, Premature ovarian insuffic...	ORPHA:572333
Chikungunya	Cervical lymphadenopathy, Depression, Lymphadenopathy	ORPHA:324625
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016

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.

Phenotype	Allele	Zygosity	Life Stage
Uterus - MPATH pathological process term hypoplasia	Duox2^em1(IMPC)Mbp	HOM	Early adult
Spleen - MPATH pathological process term hypoplasia	Duox2^em1(IMPC)Mbp	HOM	Early adult
Kidney - MPATH pathological process term hypoplasia	Duox2^em1(IMPC)Mbp	HOM	Early adult
Thyroid - MPATH pathological process term hyperplasia	Duox2^em1(IMPC)Mbp	HOM	Early adult
Liver - MPATH pathological process term hypoplasia	Duox2^em1(IMPC)Mbp	HOM	Early adult
Heart - MPATH pathological process term hypoplasia	Duox2^em1(IMPC)Mbp	HOM	Early adult

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 Duox2.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Endoplasmic reticulum stress in the intestinal epithelium initiates purine metabolite synthesis and promotes Th17 cell differentiation in the gut.	Immunity (March 2023)	Duox2^{tm1c(KOMP)Wtsi} Duox2^{tm1a(KOMP)Wtsi}	36917985

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Duox2^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Duox2^{tm44076(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Duox2^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Duox2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Duox2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Duox2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

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: Duox2 MGI:3036280

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

Human diseases caused by Duox2 mutations

Histopathology

IMPC related publications

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