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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
abnormal liver morphology	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
small spleen	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
female infertility	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating creatinine level	Duox2^em1(IMPC)Mbp	HOM	Early adult	1.95×10^-07
abnormal heart morphology	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal lymph node morphology	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
small liver	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
small heart	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased liver weight	Duox2^em1(IMPC)Mbp	HOM	Early adult	1.11×10^-09
decreased heart weight	Duox2^em1(IMPC)Mbp	HOM	Early adult	3.93×10^-08
decreased lymphocyte cell number	Duox2^em1(IMPC)Mbp	HOM	Early adult	3.73×10^-05
enlarged spleen	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating cholesterol level	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.38×10^-21
decreased exploration in new environment	Duox2^em1(IMPC)Mbp	HOM	Early adult	4.95×10^-15
increased neutrophil cell number	Duox2^em1(IMPC)Mbp	HOM	Early adult	1.68×10^-07
small kidney	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased prepulse inhibition	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.88×10^-39
increased freezing behavior	Duox2^em1(IMPC)Mbp	HOM	Early adult	3.35×10^-29
increased circulating serum albumin level	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.71×10^-10
increased circulating total protein level	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.03×10^-07
decreased red blood cell distribution width	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.37×10^-06
abnormal kidney morphology	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating calcium level	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.92×10^-05
decreased grip strength	Duox2^em1(IMPC)Mbp	HOM	Early adult	1.87×10^-35
increased mean corpuscular volume	Duox2^em1(IMPC)Mbp	HOM	Early adult	7.17×10^-10
increased circulating HDL cholesterol level	Duox2^em1(IMPC)Mbp	HOM	Early adult	6.27×10^-08
increased fasting circulating glucose level	Duox2^em1(IMPC)Mbp	HOM	Early adult	3.24×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

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 (1616 diseases)

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

Disease	Matching phenotypes	Source
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, De...	ORPHA:95716
Thyroid Dyshormonogenesis 6	Hypothyroidism, Congenital hypothyroidism	OMIM:607200
Genetic Transient Congenital Hypothyroidism	Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of...	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	Short femur, Hypoplastic pelvis	OMIM:619545
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Hearin...	OMIM:274300
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,...	OMIM:274600
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Thyroid Hormone Metabolism, Abnormal, 1	Increased circulating free T4 concentration, Elevated circulating thyroid-stimulating hormone con...	OMIM:609698
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Thyroid Hormone Metabolism, Abnormal, 3	Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre...	OMIM:620198
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Hyperthyroidism, Small for gestational age, Increase...	OMIM:609152
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In...	ORPHA:158048
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia	OMIM:613618
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Coxopodopatellar Syndrome	Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog...	ORPHA:1509
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C...	OMIM:609324
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi...	ORPHA:424
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Enlarged vestibula...	OMIM:600791
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter	OMIM:274700
Thyroid Dyshormonogenesis 2A	Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific...	OMIM:274500
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ...	OMIM:188570
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc...	ORPHA:90041
Fetal Iodine Deficiency Disorder	Congenital goiter, Hearing impairment, Congenital hypothyroidism	OMIM:228355
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, De...	ORPHA:95716
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi...	OMIM:142669
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Rhabdoid Tumor	Hypercalcemia, Lymphadenopathy, Hematuria, Anemia, Neoplasm of the liver, Irritability, Thrombocy...	ORPHA:69077
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy...	OMIM:607078
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Neph...	ORPHA:29073
Pendred Syndrome	Hyperparathyroidism, Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo, Hyp...	ORPHA:705
Wolfram-Like Syndrome	Diabetes mellitus, Abnormal pinna morphology, Congenital sensorineural hearing impairment, Optic ...	ORPHA:411590
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Primary ...	OMIM:612526
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas...	OMIM:275000
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Pituitary Dwarfism With Large Sella Turcica	Hypothyroidism, Decreased response to growth hormone stimulation test	OMIM:262710
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Coxa vara, Short femoral neck, Corner fracture of metaphysis,...	OMIM:184255
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ...	OMIM:232700
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,...	ORPHA:247585
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Fetal Iodine Syndrome	Sensorineural hearing impairment, Hypothyroidism	ORPHA:1910
Familial Papillary Or Follicular Thyroid Carcinoma	Recurrent fractures, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Nodular goiter, G...	ORPHA:319487
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Increased circulating cor...	OMIM:171400
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Congenital Atransferrinemia	Arthritis, Hypothyroidism	ORPHA:1195
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat...	ORPHA:226313
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth...	OMIM:613239
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon...	ORPHA:95715
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism	Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test	OMIM:300123
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Sp...	OMIM:603553
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Thyroid Cancer, Nonmedullary, 1	Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter	OMIM:188550
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Hyperthyroxinemia, Familial Dysalbuminemic	Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration	OMIM:615999
Rothmund-Thomson Syndrome, Type 1	Premature ovarian insufficiency, Osteoporosis, Recurrent otitis media, Male hypogonadism, Hypothy...	OMIM:618625
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Oligozoospermi...	OMIM:615703
Ciliary Dyskinesia, Primary, 37	Female infertility, Hypothyroidism, Hearing impairment, Goiter	OMIM:617577
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Anemia, Ascites, Thrombocytopenia	ORPHA:2123
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Dementia, Hepatomegaly	ORPHA:2274
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Nodular goiter, Papillary thyroid carcinoma, Recurrent fractures, Goiter	ORPHA:97290
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta...	OMIM:250460
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating...	ORPHA:99832
Thyroid Dyshormonogenesis 6	Hypothyroidism, Congenital hypothyroidism	OMIM:607200
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Cognitive impairment	ORPHA:172
Hypothyroidism, Congenital, Nongoitrous, 1	Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi...	OMIM:275200
Maffucci Syndrome	Neoplasm of the adrenal cortex, Recurrent fractures, Neoplasm of the parathyroid gland, Pituitary...	ORPHA:163634
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra...	OMIM:300888
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Ir...	OMIM:609325
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c...	OMIM:160980
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Hypothyroidism Due To Tsh Receptor Mutations	Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulatin...	ORPHA:90673
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h...	ORPHA:91347
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test	OMIM:262700
Immunodeficiency 27A	Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric ly...	OMIM:209950
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Galactokinase Deficiency	Psychomotor deterioration, Hepatomegaly, Premature ovarian insufficiency, Hypoglycemia, Hypergona...	ORPHA:79237
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Mccune-Albright Syndrome	Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Ovarian cyst, Increased ...	ORPHA:562
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased...	ORPHA:398063
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Maternal Uniparental Disomy Of Chromosome 9	Congenital hypothyroidism, Hamstring contractures, Low-set ears, Failure to thrive, Elbow ankylosis	ORPHA:96183
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex...	ORPHA:507
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Incre...	OMIM:613313
Retinal Dystrophy With Or Without Extraocular Anomalies	Premature ovarian insufficiency, Secondary amenorrhea, Goiter	OMIM:617175
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Hypothyroidism, Congenital, Nongoitrous, 8	Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l...	OMIM:301033
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology,...	ORPHA:90362
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Thyroid Dyshormonogenesis 1	Umbilical hernia, Hypothyroidism, Goiter	OMIM:274400
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Pituicytoma	Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr...	ORPHA:251623
Thyroid Cancer, Nonmedullary, 4	Ovarian neoplasm, Papillary thyroid carcinoma, Goiter	OMIM:616534
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Bangstad Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go...	OMIM:210740
Tibial Hemimelia	Absent tibia	OMIM:275220
Ghosal Hematodiaphyseal Dysplasia	Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g...	ORPHA:1802
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Dysmenorrhea, Hepatic fibrosis, Fasting hypog...	ORPHA:264580
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Thyrocerebroretinal Syndrome	Sensorineural hearing impairment, Goiter	OMIM:274240
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Allan-Herndon-Dudley Syndrome	Flexion contracture, Underfolded superior helices, Elevated circulating thyroid-stimulating hormo...	OMIM:300523
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Thyrocerebrorenal Syndrome	Sensorineural hearing impairment, Euthyroid goiter	ORPHA:3327
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy...	ORPHA:811
Leptospirosis	Hepatomegaly, Pericarditis, Anorexia, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopath...	ORPHA:509
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri...	OMIM:239200
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp...	ORPHA:98870
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hyperhomocystinemi...	ORPHA:2169
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,...	ORPHA:3363
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulating cr...	OMIM:617872
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Joint laxity, Paraganglioma of head and neck, Aganglionic me...	ORPHA:653
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact...	OMIM:620211
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Glutaric Aciduria Iii	Failure to thrive, Hyperthyroidism, Goiter	OMIM:231690
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Irritability, ...	ORPHA:263501
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb...	OMIM:226990
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Decreased thyroid-stimulating hormone level, Wide anterior fontanel, Decreased circu...	OMIM:275100
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Nephrocalcinosis, D...	OMIM:611590
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Failure to thrive, Macroorchidism, Delayed proximal ...	ORPHA:90674
Hypophosphatasia	Irritability, Hypercalcemia, Anemia	ORPHA:436
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231226
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Gne Myopathy	Limited shoulder movement, Hypothyroidism, Facial palsy, Limited wrist extension	ORPHA:602
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Preeclampsia	Elevated hepatic transaminase, Proteinuria, Chronic kidney disease, Elevated circulating creatini...	ORPHA:275555
Mantle Cell Lymphoma	Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:52416
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia, Abnormal heart morphology	DECIPHER:16
Ascher Syndrome	Hypothyroidism, Goiter	ORPHA:1253
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Hyperthyroidism, Goiter	OMIM:188580
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem...	ORPHA:99642
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Hypothyroidism	OMIM:619647
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long finge...	OMIM:610797
Thyroid Lymphoma	Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog...	ORPHA:90695
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multinodular goiter	ORPHA:2091
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Hyperthyroxinemia, Dystransthyretinemic	Euthyroid hyperthyroxinemia	OMIM:145680
Genetic Transient Congenital Hypothyroidism	Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of...	ORPHA:226316
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter	OMIM:180295
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar...	ORPHA:77296
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Blepharochalasis And Double Lip	Goiter	OMIM:109900
Thyrotropin-Releasing Hormone Deficiency	Hypothalamic hypothyroidism, Hypothyroidism	OMIM:275120
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,...	ORPHA:300298
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Renal insufficiency, Acute hepatic failure, Neonatal insulin-dependen...	ORPHA:1667
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Cowden Syndrome 5	Hyperthyroidism, Hearing impairment, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma...	OMIM:615108
Hemochromatosis, Type 3	Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc...	OMIM:604250
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Hyperhidrosis, Weight loss, Pheochromocytoma, Elevated circulating c...	ORPHA:1332
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis...	ORPHA:1655
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Peric...	ORPHA:167
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi...	OMIM:226300
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Abnormal abdomen morphology, Hyp...	OMIM:211000
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalcemia, Splenomegaly, Cryptorchidism, Hypercalciuria, Mucopolysacchariduria,...	OMIM:618440
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per...	OMIM:612561
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp...	ORPHA:56304
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Elevated circulating alanine aminotransf...	OMIM:618805
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Increased laxity of ankles, Abnormal femor...	ORPHA:750
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Hypercalciu...	OMIM:241500
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:620010
Johanson-Blizzard Syndrome	Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Abnormality of the pancreas, A...	ORPHA:2315
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Renal fibrosis...	ORPHA:470
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland...	ORPHA:64744
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Decreased circulating cortisol level, Hypogly...	ORPHA:199299
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Increased proinsulin:insulin ratio, Nephrocalcinosi...	ORPHA:94086
Testicular Anomalies With Or Without Congenital Heart Disease	Cryptorchidism, Inguinal hernia, Testicular dysgenesis, Abnormality of thyroid physiology	OMIM:615542
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Cowden Syndrome 6	Hyperthyroidism, Hearing impairment, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma...	OMIM:615109
Pediatric-Onset Graves Disease	Craniosynostosis, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased ci...	ORPHA:525731
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul...	ORPHA:540
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Osteopenia, Papilledema, Premature thelarche, Osteolysis involving bones of the uppe...	ORPHA:371428
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Myocarditis, Leukocytosis, T...	ORPHA:292
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	ORPHA:95619
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Joubert Syndrome 26	Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hypothyroidism	OMIM:616784
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Renal insufficiency, Proteinuria, Hypercalcemia, Anemia	ORPHA:2668
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Flexion contracture, Hypothyroidism	OMIM:619851
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Craniosynostosis, Congenital hypothyroidism	ORPHA:88643
Anaplastic Thyroid Carcinoma	Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter	ORPHA:142
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Ab...	ORPHA:2410
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Thyroid C cell hyperplasia	OMIM:300952
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Depression, Neutropenia, Anemia	OMIM:602079
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa...	OMIM:619013
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Potocki-Shaffer Syndrome	Decreased skull ossification, Hypothyroidism, Delayed puberty	ORPHA:52022
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancreatic islet c...	ORPHA:97289
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Familial Hyperprolactinemia	Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility...	ORPHA:397685
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Diabetes mellitus, Overweight, Flexion contracture, Abnormality of the ear, EEG abnormality, Recu...	ORPHA:391372
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Cog...	ORPHA:858
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypoproteinemia, Hepatomegaly, Elevated hepatic transaminase, Ventricular septal defect, Elevated...	ORPHA:26793
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C...	ORPHA:54251
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Hyperammonemia, Anemia, Cardiomyopathy...	ORPHA:79312
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein...	OMIM:251880
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus	OMIM:608320
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive...	ORPHA:160
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Progressive psychomotor det...	ORPHA:251004
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Cholestasis, Anemia,...	OMIM:608104
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia	OMIM:620357
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ...	OMIM:614450
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p...	OMIM:613038
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcemia, Elevat...	OMIM:619991
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Amen...	ORPHA:528
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Amelia	OMIM:601357
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Limitation of joint mobility, Microti...	ORPHA:2994
Hypothyroidism, Congenital, Nongoitrous, 5	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:225250
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudohypoparathyro...	OMIM:612462
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Hypothyroidism, Congenital, Nongoitrous, 9	Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l...	OMIM:301035
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca...	OMIM:235200
Hawkinsinuria	Failure to thrive, Hypothyroidism	ORPHA:2118
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly, Irritability, Reduced haptoglobin level	OMIM:612126
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Self-mutilation, Hemolytic anem...	OMIM:619487
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Failure to thrive, Septo-optic dysplasia, Adrenal hypoplasia, Hypoth...	ORPHA:95496
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog...	ORPHA:95494
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease...	ORPHA:453533
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc...	OMIM:614034
Weismann-Netter Syndrome	Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing	OMIM:112350
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:91547
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, EEG abnormality, Incr...	ORPHA:1227
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Cowden Syndrome 1	Hyperthyroidism, Hearing impairment, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcino...	OMIM:158350
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Immunodeficiency 43	Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi...	OMIM:241600
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,...	OMIM:147750
Dengue Fever	Hepatomegaly, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Precocious Puberty, Central, 1	Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti...	OMIM:176400
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Pseudohypoparathyroidism, Obesity, Subcutaneous ossification, Elevated circulating ...	OMIM:103580
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Pancreatic steatosis, Throm...	OMIM:617052
Ddost-Cdg	Osteopenia, Failure to thrive, Lipodystrophy, Primary hypothyroidism	ORPHA:300536
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Alstrom Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i...	OMIM:203800
Addison Disease	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia...	ORPHA:85138
Prolactinoma	Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Vertigo, Osteoporosis, Decreased fe...	ORPHA:2965
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Cryptorchidism, Inguinal hernia, Hypothyroidism, EEG abnormality	OMIM:613970
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m...	OMIM:100800
Branchiootorenal Syndrome 1	Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch...	OMIM:113650
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Enlarged kidney, Leukopenia, Nephrotic...	OMIM:617303
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Dilated cardiomyopathy, Hepatos...	ORPHA:367
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry...	OMIM:300946
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Horseshoe kidney, In...	OMIM:612562
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:83601
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Proteinuria, Progressive neurologic deterioration, Nodular regenerative hyperp...	ORPHA:247691
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Mccune-Albright Syndrome	Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm...	OMIM:174800
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Cryptorchidism, Sta...	OMIM:617575
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Confusion, Hematuria, Microangiopathic hemolyt...	ORPHA:54057
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Methylmalonic aciduria, Hyperhom...	OMIM:277410
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hypercalcemia, Nephrolithiasis, Recurrent pancreatitis, Polycystic kid...	OMIM:145001
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H...	OMIM:619126
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Steatorrhea, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosis, C...	OMIM:602579
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Hypog...	ORPHA:95409
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Congenital Macroglossia	Hypothyroidism	ORPHA:2430
Congenital Disorder Of Glycosylation, Type Ii	Joint laxity, Sensorineural hearing impairment, Hypsarrhythmia, Low-set ears, Decreased body weig...	OMIM:607906
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis...	ORPHA:75563
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:218700
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Dextrocardia, Elevated circulating alpha-fetoprotein concentra...	OMIM:613095
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci...	OMIM:143880
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circu...	OMIM:300972
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glo...	OMIM:619644
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesi...	OMIM:608836
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu...	OMIM:277900
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Monosomy 13Q34	Metrorrhagia, Hypercalcemia, Insulin resistance, Pulmonic stenosis, Common atrium, Hepatic steatosis	ORPHA:96168
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney dise...	ORPHA:284426
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ...	OMIM:269920
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Functioning Gonadotropic Adenoma	Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad...	ORPHA:91348
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:86893
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosi...	OMIM:602080
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca...	ORPHA:968
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri...	OMIM:620076
Poems Syndrome	Sclerosis of hand bone, Papilledema, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Ab...	ORPHA:2905
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma...	OMIM:127550
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H...	ORPHA:280356
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Hypercalcemia, Cryptorchidism, Hypercalciuria, Micropenis	OMIM:614732
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Hypothyroidism, Infertility	OMIM:264300
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar...	OMIM:608940
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Adamantinoma	Hypercalcemia	ORPHA:55881
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy...	ORPHA:275761
Spondyloepiphyseal Dysplasia Congenita	Short femur, Micrognathia, Abnormal foot morphology, Upper limb undergrowth, Flat acetabular roof...	ORPHA:94068
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Splenomegaly, Irritability, Thrombocytopenia	OMIM:615010
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:300842
Acquired Aneurysmal Subarachnoid Hemorrhage	Progressive neurologic deterioration, Leukocytosis, Memory impairment, Addictive alcohol use, Cog...	ORPHA:90065
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Sandhoff Disease	Splenomegaly, Motor deterioration, Progressive psychomotor deterioration, Hepatomegaly	ORPHA:796
Coproporphyria, Hereditary	Hepatomegaly, Confusion, Splenomegaly, Jaundice, Depression, Increased urinary porphobilinogen, E...	OMIM:121300
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos...	ORPHA:699
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Howell-Jolly bo...	ORPHA:85443
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Agita...	OMIM:619046
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Self hugging, Head-banging, Abnormal heart morphology, Onych...	OMIM:182290
Li-Campeau Syndrome	Cryptorchidism, Hypothyroidism, Low-set ears	OMIM:619189
Babesiosis	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Confusion, Anorexia, Splenomegaly, Jaundice,...	ORPHA:108
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s...	ORPHA:47
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome...	OMIM:607115
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Anorexia, Acanthocytosi...	ORPHA:97280
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa...	ORPHA:829
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Joint stiffness, Osteoporosis, Amenorrhea, Weig...	ORPHA:465508
Intellectual Disability-Strabismus Syndrome	Decreased serum insulin-like growth factor 1, Failure to thrive, Decreased response to growth hor...	ORPHA:363528
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:95513
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Anorexia	ORPHA:2494
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Developmental And Epileptic Encephalopathy 90	EEG with burst suppression, Hypothyroidism, Hypsarrhythmia	OMIM:301058
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Hyperparathyroidism 4	Nephrolithiasis, Hypercalcemia	OMIM:617343
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva...	OMIM:613070
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Athyreosis	Thyroid agenesis, Hypothyroidism	ORPHA:95713
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Large fleshy ears, Abnormal pinna morphology, Obesity, Congenital hypothyroidism	ORPHA:352530
Alg1-Cdg	Renal insufficiency, Abnormal heart morphology, Cardiomyopathy, Nephrotic syndrome, Hypoalbuminem...	ORPHA:79327
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Potocki-Lupski Syndrome	Small for gestational age, EEG abnormality, Failure to thrive, Hypothyroidism, Hearing impairment	OMIM:610883
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatome...	ORPHA:79259
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Bamforth-Lazarus Syndrome	Thyroid agenesis, Congenital hypothyroidism	OMIM:241850
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Oculoskeletodental Syndrome	Nephrocalcinosis, Hypercalcemia, Hypocalcemia	ORPHA:557003
Adenohypophysitis	Decreased circulating cortisol level, Decreased female libido, Orthostatic hypotension, Reduced c...	ORPHA:95512
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc...	OMIM:102200
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Aggressive behavior, Cryptorchidism, Jaundice, Hypoproteinemia	OMIM:608093
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Decreased body weight, Diabetes mellitus, Dorsocervical fat pad, Small for gestatio...	ORPHA:391408
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Anorexia, Intrahepatic ...	ORPHA:97283
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Increased mean platelet volume, Abn...	OMIM:222470
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Anorexia, Intrahepatic ...	ORPHA:97282
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a...	OMIM:613490
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Umbilical hernia, Hypothyroidism	ORPHA:2349
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp...	OMIM:256300
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula...	OMIM:605814
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Failure to thrive, Diabetes mellitus, Foot joint contr...	ORPHA:456312
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Fractured radius, Decreased fibular diameter, Micrognathia, Flared metaphysis, Short...	OMIM:616897
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Confusion, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Ele...	OMIM:274150
Intellectual Developmental Disorder, Autosomal Dominant 67	Hypothyroidism	OMIM:619927
Slc35A2-Cdg	Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ...	ORPHA:356961
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Alg6-Cdg	Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice	ORPHA:79320
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypothyroidism, Hypogonadotropic hypogonadism, Infertility, Cryptorchidism	ORPHA:752
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Abnormality of the lymphatic sys...	ORPHA:1414
Galloway-Mowat Syndrome 6	Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight	OMIM:618347
Diamond-Blackfan Anemia	Acute myeloid leukemia, Ventricular septal defect, Hypospadias, Pure red cell aplasia, Erythroid ...	ORPHA:124
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic a...	OMIM:604273
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Progressive...	OMIM:616113
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re...	OMIM:614736
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Anorexia, Oral-ph...	ORPHA:100083
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Ravine Syndrome	Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight	ORPHA:99852
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Failure to thrive in infancy, Aganglionic megacolon, Pheochromocytoma, Elevated cir...	OMIM:162300
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Increased mean corpuscular vol...	ORPHA:261250
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u...	ORPHA:94080
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic choles...	ORPHA:69663
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomeg...	ORPHA:79083
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98754
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenome...	ORPHA:37042
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Cryptorchidism, Sensorineural hearing impairment, Delayed puberty, Mac...	OMIM:616817
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Hypercalcemia, Aggressive behavior, Complete atrioventricular canal defect,...	ORPHA:476126
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes...	OMIM:607143
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double...	ORPHA:93307
Galactose Epimerase Deficiency	Splenomegaly, Aminoaciduria, Jaundice, Hepatomegaly	ORPHA:79238
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Premature ovarian insufficiency, Female hypogonadism, Cholelithiasis, Decreas...	OMIM:240300
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism...	ORPHA:398079
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Brain abscess, Ventricular septal defect, Elevated circulating...	ORPHA:97214
Intellectual Developmental Disorder, Autosomal Dominant 52	Small for gestational age, Asymmetry of the ears, Bilateral cryptorchidism, Cryptorchidism, Senso...	OMIM:617796
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Autosomal Dominant Progressive External Ophthalmoplegia	Diabetes mellitus, Hyperthyroidism, Facial palsy, Hearing impairment, Osteoporosis, Facial dipleg...	ORPHA:254892
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Aminoaciduria, Hepatomegaly	ORPHA:417
2P21 Microdeletion Syndrome	Hypoglycemia, Nephrolithiasis, Cystinuria, Hypogonadism, Hypocalcemia	ORPHA:163693
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Cystinosis	Nephrogenic diabetes insipidus, Rickets, Delayed puberty, Type I diabetes mellitus, Failure to th...	ORPHA:213
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the knee, Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98793
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Elevated circulating creatine kinase concentration, Glomerulonephritis, Conf...	ORPHA:36234
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ...	OMIM:164900
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbuminemia, Abnorm...	ORPHA:99826
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Lipodystrophy, Decreased response to growth hormone stimulation test, Panhypopituitarism, Interic...	OMIM:618922
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Dementia, Hypoalbuminemia, Cognitive impairme...	OMIM:208920
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating...	ORPHA:79126
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Cardiomyopathy, Hypogonadism, Hepatomegaly	OMIM:608540
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Dysphagia, Hyp...	ORPHA:2070
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
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
Mirage Syndrome	Hyponatremia, Hypoglycemia, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperkal...	OMIM:617053
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Abnormal motor evoked potentials, Hypogonadism, Type II diabetes mellitus, Oligomenorrhea, Infert...	ORPHA:412057
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177904
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia	ORPHA:2591
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Small pituitary gland, Decreased te...	OMIM:614880
14Q11.2 Microduplication Syndrome	Hypothyroidism, Obesity	ORPHA:261229
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Short attention span, Elevated circulating creatine kinase concent...	ORPHA:88618
Legionnaires Disease	Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Anorexia, Splenomegaly, Myocarditis...	ORPHA:549
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Elevated circulating creatinine concentration, Abnormal renal corti...	OMIM:616733
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618261
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177901
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis	OMIM:239199
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos...	ORPHA:99879
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ...	ORPHA:2235
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia	OMIM:259700
Shox-Related Short Stature	Micrognathia, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb undergrowth...	ORPHA:314795
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia,...	ORPHA:2298
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplas...	ORPHA:171
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H...	ORPHA:79319
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:617093
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone s...	ORPHA:3464
Bamforth-Lazarus Syndrome	Thyroid agenesis, Congenital hypothyroidism	ORPHA:1226
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Prote...	OMIM:212065
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hematu...	OMIM:185070
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Abnormal pericardium morphology, Leuk...	ORPHA:67
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly, Hyperammonemia, Aminoaciduria, Hepatic failure	ORPHA:664
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Atelis Syndrome 1	Glue ear, Hypothyroidism, Microtia	OMIM:620184
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Posteriorly rotated ears, Camptodactyly of finger, Thyroid agenesis, Cryptorc...	ORPHA:3047
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Thromboc...	ORPHA:824
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Abnormality of t...	ORPHA:209905
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
19P13.12 Microdeletion Syndrome	Craniosynostosis, Precocious puberty, Cryptorchidism, External ear malformation, Sensorineural he...	ORPHA:254346
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618982
Cowden Syndrome	Follicular thyroid carcinoma, Hearing impairment, Abnormality of the thyroid gland, Enlarged poly...	ORPHA:201
Acrodysostosis 2 With Or Without Hormone Resistance	Diabetes mellitus, Cryptorchidism, Obesity, Advanced ossification of carpal bones, Congenital hyp...	OMIM:614613
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes...	OMIM:145981
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Nabais Sa-De Vries Syndrome, Type 2	Posteriorly rotated ears, Failure to thrive in infancy, Protruding ear, Microtia, Low-set ears, H...	OMIM:618829
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Joint laxity, Decreased response to growth hormone stimulation test, Bilateral camptodactyly, Pro...	OMIM:619234
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Lymphadenopathy, Hepato...	OMIM:619750
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Anorexia, Neoplasm of the thymus, Intrahep...	ORPHA:97261
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Srd5A3-Cdg	Optic atrophy, Hypothyroidism, Decreased response to growth hormone stimulation test, Hearing imp...	ORPHA:324737
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Progressive neurologic deterioration, Splenomegaly, Depression, Demen...	OMIM:231000
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia	ORPHA:89844
Aregenerative Anemia	Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Reticulocytopenia, Ly...	ORPHA:101096
Thyroid Hormone Resistance, Selective Pituitary	Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin...	OMIM:145650
Down Syndrome	Joint laxity, Aganglionic megacolon, Decreased fertility, Obesity, Type II diabetes mellitus, Rou...	ORPHA:870
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Limb joint contracture, Hypogonadotropic hypogonadism, Centr...	OMIM:612079
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Silver-Russell Syndrome Due To A Point Mutation	Inguinal hernia, Small for gestational age, Dysmenorrhea, Cryptorchidism, Low-set ears, Hypothyro...	ORPHA:397590
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Idiopathic Non-Lupus Full-House Nephropathy	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Elevated circulating...	ORPHA:567544
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility	OMIM:300604
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Hypoglycemia, Ne...	OMIM:619418
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Sta...	OMIM:614376
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Xerostomia, Premature adrenarc...	ORPHA:739
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukopenia, Lymphopenia	OMIM:620210
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy...	OMIM:607594
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Primary Ciliary Dyskinesia	Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Situs ...	ORPHA:244
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Abnormal...	ORPHA:905
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Progressive neurologic deterioration, 3-Methylglutac...	OMIM:618329
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c...	OMIM:602088
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Cardiomegaly, Heparan sulfate ...	OMIM:252920
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Fused cervical ver...	OMIM:609053
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepat...	ORPHA:98850
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal circulating po...	ORPHA:100924
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria, Pancreatitis	OMIM:145980
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Multicystic kidne...	OMIM:619774
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612926
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia...	ORPHA:276
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Sensorineural hearing impairment, Protruding ear, Joint hyperflexibility, EEG abnorma...	ORPHA:2479
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ...	OMIM:150550
Osteogenesis Imperfecta, Type X	Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Tibial bowing, Genu ...	OMIM:613848
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Hyperactivity, V...	OMIM:615673
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Decreased serum creatinine, Atrial septal defect, Hypohomocysteinemia, Hyp...	OMIM:617744
Gracile Bone Dysplasia	Asplenia, Micropenis, Hypocalcemia, Hypoplastic spleen, Ascites	OMIM:602361
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin...	ORPHA:90038
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Cryptorchidism, Neonatal epiphyseal stippling, Elevated circulating th...	OMIM:101800
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Dystonia 28	Precocious puberty, Hypothyroidism	ORPHA:589618
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
B4Galt1-Cdg	Small for gestational age, Hypothyroidism, Low-set ears	ORPHA:79332
Abetalipoproteinemia	Elevated hepatic transaminase, Reticulocytosis, Decreased HDL cholesterol concentration, Hepatome...	ORPHA:14
Subcorneal Pustular Dermatosis	Hyperthyroidism, Hypothyroidism, Rheumatoid arthritis	ORPHA:48377
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glomerular scler...	OMIM:619155
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly...	OMIM:616651
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Hypothyroidism, Hypothalamic hamartoma	OMIM:619908
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Chronic kidney di...	ORPHA:730
Fucosidosis	Lipoatrophy, Hyperhidrosis, Failure to thrive, Hypothyroidism, Hearing impairment	ORPHA:349
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Hypothyroidism, Hypohidrosis	ORPHA:1882
Sarcoidosis	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Eosinophilia, Hypercalcemia, Portal hyperten...	ORPHA:797
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Enlarged kidney, Abnormal hear...	ORPHA:505248
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612924
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
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
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Polyphagia, Nephrolithiasis, Cystinuria, Hypocalcemia, Cystine cr...	OMIM:606407
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Hypothyroidism	ORPHA:663
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Thr...	ORPHA:398124
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Anorexia, Intrahepatic cholestasis, Abnorm...	ORPHA:97278
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi...	OMIM:194380
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:607765
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kid...	OMIM:619468
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Diffuse Alveolar Hemorrhage	Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Hematuria, Thro...	ORPHA:90060
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Abnormal heart morphology, Nephr...	ORPHA:369837
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H...	OMIM:615122
Laron Syndrome	Hypercholesterolemia, Hypoplasia of penis, Hypoglycemia	ORPHA:633
Small Cell Carcinoma Of The Bladder	Dysuria, Hematuria, Hypercalcemia	ORPHA:284400
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Chromosome 2Q37 Deletion Syndrome	Sensorineural hearing impairment, Hypothyroidism, Obesity	OMIM:600430
Autosomal Dominant Optic Atrophy, Classic Form	Diabetes mellitus, Sensorineural hearing impairment, Optic atrophy, Hypogonadism, Temporal optic ...	ORPHA:98673
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Insulin resist...	ORPHA:2348
Multiple Endocrine Neoplasia Type 4	Increased urinary cortisol level, Hypercalcemia, Testicular neoplasm, Fasting hyperinsulinemia, I...	ORPHA:276152
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis	ORPHA:157991
Ring Chromosome 12 Syndrome	Small for gestational age, Cryptorchidism, Microtia, Symphalangism of the thumb, Low-set ears, Hy...	ORPHA:1439
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Posteriorly rotated ears, Failure to thrive in infancy, Limited elbow extension, Low-set ears, Ca...	OMIM:613385
Smith-Magenis Syndrome	Failure to thrive in infancy, Joint stiffness, Precocious puberty, Obesity, EEG abnormality, Dela...	ORPHA:819
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Elevated circulating creatine kinas...	OMIM:610377
Arthrogryposis, Distal, Type 2A	Hip contracture, Inguinal hernia, Flexion contracture of finger, Failure to thrive, Shoulder flex...	OMIM:193700
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Maturity-onset diabetes of the young	ORPHA:254531
Temple Syndrome	Hypertriglyceridemia, Maturity-onset diabetes of the young, Cryptorchidism, Hypercholesterolemia,...	OMIM:616222
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Whipple Disease	Hyponatremia, Hepatomegaly, Pericarditis, Anorexia, Splenomegaly, Myocarditis, Insulin resistance...	ORPHA:3452
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomega...	ORPHA:53035
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:91355
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism	OMIM:603373
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Tularemia	Brain abscess, Confusion, Mediastinal lymphadenopathy, Leukocytosis, Abnormal nasopharyngeal aden...	ORPHA:3392
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchi...	ORPHA:2232
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla...	ORPHA:99880
Metaphyseal Chondrodysplasia, Jansen Type	Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosphatemia	OMIM:156400
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Type I diabetes mellitus...	ORPHA:290
Adiposis Dolorosa	Arthritis, Hypothyroidism, Xerostomia, Obesity	ORPHA:36397
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Depression, Iron deficiency anemia, Hypocalcemi...	OMIM:212750
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Joint laxity, Diabetes mellitus, Hyperthyroidism, Recurrent otitis media, Macrotia, Hypothyroidism	ORPHA:449291
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Premature pubarche, Precocious puberty, Cryptorchidism, Flexion contracture, Osteopor...	ORPHA:398069
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Sensorineural hearing impairment, Optic atrophy, Hypothyro...	OMIM:222300
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl...	OMIM:229070
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Isolated Atp Synthase Deficiency	Hypogonadism, Sensorineural hearing impairment, Optic atrophy, Hypothyroidism	ORPHA:254913
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemi...	OMIM:251000
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla...	ORPHA:143
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci...	OMIM:617913
Stüve-Wiedemann Syndrome	Osteopenia, Camptodactyly of finger, Recurrent fractures, Flexion contracture, Elbow flexion cont...	ORPHA:3206
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hy...	ORPHA:36913
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Dilated cardiomyopathy, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypo...	OMIM:620152
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p...	ORPHA:449395
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia	ORPHA:35710
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Diabetes mellitus, Sagittal craniosynostosis, Hiatus hernia, Pancreatic cysts, Wide a...	OMIM:610199
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy,...	OMIM:617591
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:618348
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin...	ORPHA:230
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Small for gestational age, Congenital sensorineural hearing impairment, Sensorineural hearing imp...	OMIM:619147
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Felty Syndrome	Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, N...	ORPHA:47612
Cowden Syndrome 7	Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter	OMIM:616858
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protei...	OMIM:615688
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-...	ORPHA:50918
Seckel Syndrome 7	Microtia, Primary amenorrhea, Central hypothyroidism	OMIM:614851
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia	ORPHA:1046
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Lig4 Syndrome	Small for gestational age, Cryptorchidism, Type II diabetes mellitus, Failure to thrive, Hypothyr...	OMIM:606593
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly, Chronic kidney...	OMIM:615630
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated hepatic transaminase, Proteinuria, Elevated circulating creatine kinase co...	ORPHA:94093
4H Leukodystrophy	Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho...	ORPHA:289494
Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop...	ORPHA:733
Timothy Syndrome	Ventricular septal defect, Hypoglycemia, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent ...	OMIM:601005
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Chromosome 1P35 Deletion Syndrome	Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Anterior creases of e...	OMIM:617930
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, Hearing impairment, Protruding ear, Radioulnar synostosis, Syn...	ORPHA:3258
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Posteriorly rotated ears, Hypothyroidism, Low-set ears, Hearing impairment	OMIM:617763
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Allan-Herndon-Dudley Syndrome	Small for gestational age, Abnormality of thyroid physiology, Failure to thrive in infancy, Crypt...	ORPHA:59
Acetazolamide-Responsive Myotonia	Hypothyroidism	ORPHA:99736
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Monosomy 18P	Abnormal antihelix morphology, Macrotia, Hypothyroidism, Protruding ear	ORPHA:1598
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr...	ORPHA:49041
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ...	OMIM:618048
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Chronic kidney disease, Elevated circulati...	ORPHA:329918
Roifman Syndrome	Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Lymphadenopathy, Hepat...	ORPHA:353298
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated ci...	OMIM:614576
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Fibronectin Glomerulopathy	Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Microscopic hematuria	ORPHA:84090
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:276621
Gaucher Disease Type 2	Splenomegaly, Dysphagia, Hepatomegaly	ORPHA:77260
Ataxia-Oculomotor Apraxia 4	Cognitive impairment, Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprote...	OMIM:616267
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Cryptorchidism, Sensorineural hearing impairment, Low-set ears, Umbilical hernia, Hypothyroidism	ORPHA:85321
Classic Hodgkin Lymphoma	Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Joint contracture, Failure to thrive, Hypothyroidism	OMIM:618005
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a...	ORPHA:1215
Maternal Uniparental Disomy Of Chromosome 2	Premature ovarian insufficiency, Decreased response to growth hormone stimulation test, Bilateral...	ORPHA:96179
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
9Q31.1Q31.3 Microdeletion Syndrome	Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension, Type II diabetes mellit...	ORPHA:401923
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Stenosis of the external auditory canal, Decreased response to growth hormone stimulation test, C...	OMIM:601427
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Anorexia, Pericardial effusion, Hypersplenism, Thrombocy...	ORPHA:77259
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Mosaic Variegated Aneuploidy Syndrome 2	Small for gestational age, Decreased response to growth hormone stimulation test, Craniosynostosi...	OMIM:614114
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Hypocalcemia, Anemia	ORPHA:53
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc...	OMIM:246700
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycem...	ORPHA:329249
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pleural lymphangiectasia, Pericardial lymphangiectasia, Ventricular septal defect, Hyperactivity,...	OMIM:235510
Stiff Person Spectrum Disorder	Diabetes mellitus, Hypothyroidism, Hyperhidrosis	ORPHA:3198
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypothyroidism	ORPHA:2491
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Elevated circulating creatin...	OMIM:137920
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Hypospadias, Cryptorchidism, Muscular ventricular se...	ORPHA:79324
Fragile X Tremor/Ataxia Syndrome	Impotence, Premature ovarian insufficiency, Hypothyroidism, Hearing impairment	OMIM:300623
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Co...	OMIM:617156
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Proteinuria, Pancreatic fibrosis, Hepa...	OMIM:232220
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Arthritis, Failure to thrive, Hypothyroidism	OMIM:304790
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo...	ORPHA:288
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, A...	ORPHA:412
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Tombstone-shaped proximal phalanges, Flat ac...	OMIM:108721
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of...	ORPHA:2839
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Trapezoidal distal femoral condyles, Femoral bo...	OMIM:307800
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Hyperparathyroidism, Transient Neonatal	Short femur, Metaphyseal spurs, Femoral bowing, Short long bone, Short ribs, Fractured rib	OMIM:618188
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	OMIM:610978
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat...	OMIM:174000
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ...	ORPHA:66624
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Primary amenorrh...	OMIM:612702
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Irritability, Cirrhosis, Hepatic failure	OMIM:613489
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah...	OMIM:613812
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl...	OMIM:617925
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hy...	OMIM:235555
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Orotic Aciduria	Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas...	OMIM:258900
Craniopharyngioma	Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi...	ORPHA:54595
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Abnormal circulating selenium concentration, Decreased serum iron, Dilated cardiomyopathy, Dyspha...	ORPHA:89842
Ataxia-Telangiectasia	Elevated hepatic transaminase, Diabetes mellitus, Abnormal testis morphology, Type II diabetes me...	ORPHA:100
Genetic Recurrent Myoglobinuria	Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise...	ORPHA:99845
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ...	OMIM:206920
Familial Multinodular Goiter	Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S...	ORPHA:276399
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Splenomegaly, Micronodul...	OMIM:606003
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con...	ORPHA:79277
Aapoaiv Amyloidosis	Diabetes mellitus, Proteinuria, Cardiac amyloidosis, Abnormal renal medulla morphology, Hyperlipi...	ORPHA:439232
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess	ORPHA:89937
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Leukopenia, Abnor...	ORPHA:1304
Hennekam Syndrome	Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney,...	ORPHA:2136
Mitochondrial Trifunctional Protein Deficiency	Cholestasis, Cardiomyopathy, Hypocalcemia, Left ventricular hypertrophy, Diffuse hepatic steatosi...	ORPHA:746
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Low-set, posteriorly rotated ears, Failure to thrive in infancy, Thyroiditis, Camptodactyly, Type...	ORPHA:228426
Autoinflammation, Immune Dysregulation, And Eosinophilia	Failure to thrive, Hypothyroidism	OMIM:618999
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Anore...	ORPHA:781
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Irritability, Hyposthenuria, Decreased...	OMIM:300539
Giant Axonal Neuropathy	Abnormal pituitary gland morphology, Facial palsy, Joint hypermobility	ORPHA:643
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C...	ORPHA:904
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop...	OMIM:618986
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,...	OMIM:616589
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Posteriorly rotated ears, Decreased res...	OMIM:146510
Autosomal Dominant Dopa-Responsive Dystonia	Hypothyroidism, Progressive flexion contractures, Rheumatoid arthritis, Hearing impairment	ORPHA:98808
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Lipoma, Multinodular goiter, Posteriorly rotated ears	OMIM:620189
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Hyperthyroidism, Osteomalacia, Precocious puberty in fem...	ORPHA:249
Multifocal Atrial Tachycardia	Cryptorchidism, Hypothyroidism	ORPHA:3282
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Hypocalcemia, P...	ORPHA:3426
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal defect, Inlet ...	OMIM:619534
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal segmental glomer...	OMIM:254900
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa...	OMIM:609162
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Thyroid Hypoplasia	Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b...	OMIM:612736
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Steatorrhea, Ascites, Anemia	ORPHA:75233
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno...	OMIM:131100
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
H Syndrome	Diabetes mellitus, Hypertriglyceridemia, Microcytic anemia, Amenorrhea, Hepatosplenomegaly, Lymph...	ORPHA:168569
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Hypocalcemia, H...	ORPHA:667
Pleural Mesothelioma	Hepatomegaly, Dysphagia, Lymphadenopathy	ORPHA:50251
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Abnormal blood ion concentration, O...	ORPHA:31824
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Elevated circulating creatin...	OMIM:266900
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Retroperit...	OMIM:602782
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti...	ORPHA:2686
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol...	OMIM:619381
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Chylous ascites, Hypoa...	ORPHA:90363
Pyknoachondrogenesis	Micromelia, Short iliac bones, Abnormal iliac wing morphology, Short long bone, Short ribs, Aplas...	ORPHA:3003
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes ...	OMIM:248370
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se...	OMIM:601455
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Irritability, Hepatomegaly	OMIM:228000
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Myoglobinuria, Elevated circulating creatinine concentration, Elev...	OMIM:620138
Acute Promyelocytic Leukemia	Pancytopenia, Metrorrhagia, Anorexia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Hematuri...	ORPHA:520
Microphthalmia, Syndromic 9	Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobulated spleen, Hypopl...	OMIM:601186
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Enlarged tonsils,...	ORPHA:2785
Monosomy 18Q	Failure to thrive, Slender build, Joint hypermobility, Bilateral cryptorchidism, Sensorineural he...	ORPHA:1600
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Williams-Beuren Syndrome	Bicuspid aortic valve, Nephrocalcinosis, Glucose intolerance, Vesicoureteral reflux, Atrial septa...	OMIM:194050
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia, Ly...	ORPHA:99812
Ohdo Syndrome, Sbbys Variant	Posteriorly rotated ears, Cryptorchidism, Low-set ears, Hypothyroidism, Hearing impairment	OMIM:603736
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:29072
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Syndromic Diarrhea	Lymphopenia, Hepatomegaly, Ventricular septal defect, Bicuspid aortic valve, Increased mean plate...	ORPHA:84064
Neuhauser Syndrome	Osteopenia, Cupped ear, Large fleshy ears, Primary hypothyroidism	OMIM:249310
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia, Maturity-onset diabetes of the young, Cryptorchidism	ORPHA:96184
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo...	OMIM:241520
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Cor pulmonale, T lymphocytopenia, Lymph node hyp...	OMIM:300755
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ...	OMIM:601678
Carney Complex	Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova...	ORPHA:1359
Alagille Syndrome 1	Elevated hepatic transaminase, Hypertriglyceridemia, Ventricular septal defect, Hepatocellular ca...	OMIM:118450
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets, Type I diabetes mellitus, Failure to thrive, Hearing impairment	OMIM:560000
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,...	ORPHA:186
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Renal phosphate wasting, Hypercalcemia, Hypophosphatemia	OMIM:612089
Koolen-De Vries Syndrome	Vertebral fusion, Abnormal dental enamel morphology, Cryptorchidism, Protruding ear, Joint hyperf...	ORPHA:96169
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Immunodeficiency, Common Variable, 8, With Autoimmunity	Thyroiditis, Arthritis, Recurrent otitis media, Type I diabetes mellitus, Failure to thrive, Hypo...	OMIM:614700
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Atrial septal defect, Atrioventricular can...	OMIM:619573
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial effu...	ORPHA:36412
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:608600
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc...	OMIM:612714
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Alexander Disease	Osteopenia, Diabetes mellitus, Facial palsy, Precocious puberty, Hyperhidrosis, EEG abnormality, ...	ORPHA:58
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Irritability, Decreased serum zinc, Hypogonadism, Emotional lability,...	OMIM:201100
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic s...	ORPHA:2239
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer...	ORPHA:79456
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Abnormal fi...	ORPHA:3035
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Tbck-Related Intellectual Disability Syndrome	Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Sensorine...	ORPHA:488632
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Diabetes mellitus, Pancreatic fibrosis, Achilles tendon contracture, Sensorineural hearing impair...	OMIM:616263
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hypercalcemia, Jaundice, Extrahepatic cholestasis, Increased ci...	ORPHA:913
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Iron deficiency anemia, Glu...	ORPHA:358
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Bilateral c...	OMIM:300998
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Hypohid...	ORPHA:1812
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Distal Xq28 Microduplication Syndrome	Absent antihelix, Microtia, Hypothyroidism	ORPHA:293939
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Jung Syndrome	Hypothyroidism	ORPHA:2321
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Decreased ...	OMIM:618885
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly...	ORPHA:565612
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proximal tibial epiphyses...	ORPHA:96334
Kimura Disease	Lymphadenopathy, Eosinophilia, Follicular hyperplasia	ORPHA:482
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Le...	ORPHA:83313
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Proteinuria, Bilateral cryptorchidism, Male hypogonadism, Atrial s...	OMIM:619471
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Graft Versus Host Disease	Elevated hepatic transaminase, Jaundice, Lymphadenopathy, Hepatosplenomegaly, Chronic hepatitis, ...	ORPHA:39812
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re...	ORPHA:2457
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Genu valgum	OMIM:617798
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Short femur, Micrognathia, Short toe, Genu valgum, Hyperphalangy...	OMIM:616145
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Decreased response to growth hormone stimulation test	OMIM:615925
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Increased pineal volume, Enlarged ovaries, Precocious pubert...	ORPHA:769
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, Knee flexion con...	OMIM:210710
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal heart valve...	ORPHA:77293
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Confusion, Leukocytosis, ...	ORPHA:340
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Anemia, Hypomagnesemia	OMIM:244460
Acute Monoblastic/Monocytic Leukemia	Weight loss, Progressive hearing impairment, Central hypothyroidism	ORPHA:514
Pancreatic insufficiency, combined exocrine	Hypoproteinemia, Exocrine pancreatic insufficiency	OMIM:260450
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Confusion, Elevated circulating creatinine concentration, Hyperbil...	ORPHA:542323
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Vertigo, Diabetes mellitus, Hypothyroidism	ORPHA:263297
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Mixed Connective Tissue Disease	Hemolytic anemia, Pericarditis, Hepatomegaly, Splenomegaly, Myocarditis, Mediastinal lymphadenopa...	ORPHA:809
American Trypanosomiasis	Hepatomegaly, Myocarditis, Splenomegaly, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice...	OMIM:214500
Thyroid Ectopia	Abnormality of the thyroid gland, Umbilical hernia, Hypothyroidism, Ectopic thyroid	ORPHA:95712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Anemia, Hypocalcemia,...	ORPHA:163979
Methimazole Embryofetopathy	Abnormality of the thyroid gland, Hypothyroidism	ORPHA:1923
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Pericardial effusion, Lymphadenopathy, Hematuria, L...	ORPHA:93552
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Craniosynostosis, Cryptorchidism, Abnormal autonomic nervous system physiology, Abnor...	ORPHA:453499
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal ...	OMIM:252930
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolera...	ORPHA:2088
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Increased total bilirubin	ORPHA:90037
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Peritonitis, Abnormal heart morphology, Abnormal glucose homeostasis,...	ORPHA:391673
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Hypothyroidism, Hypohidrosis	ORPHA:1563
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis	OMIM:247800
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Combined Oxidative Phosphorylation Deficiency 33	EEG with burst suppression, Sensorineural hearing impairment, Hypothyroidism	OMIM:617713
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Ventricular septal defect, Hypercalcemia, Hypospadias,...	ORPHA:821
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal adipose t...	ORPHA:93160
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce...	OMIM:608594
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormality of the pancreas, Cardiomyopathy, Abnormal cardiac septum morphology, Mu...	ORPHA:175
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Martin-Probst Syndrome	Cryptorchidism, Sensorineural hearing impairment, Chordee, Hypoplastic nipples, Low-set ears, Umb...	OMIM:300519
Smith-Lemli-Opitz Syndrome	Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Atrial septal defect, Micropenis, Hepatic steat...	OMIM:270400
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Cryptorchidism, Sensorineural hearing impairment, Truncal obe...	OMIM:616541
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Aa Amyloidosis	Hypothyroidism, Adrenal insufficiency	ORPHA:85445
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Primary hypothyroidism	OMIM:225050
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Eryt...	OMIM:612541
Kaposiform Lymphangiomatosis	Metrorrhagia, Pericardial effusion, Splenomegaly, Pancreatic cysts, Abnormality of the lymphatic ...	ORPHA:464329
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Immunodeficiency 102	Hypothyroidism	OMIM:301082
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty	OMIM:615952
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Secundum atrial septal defect, Bilat...	ORPHA:2260
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Abnormal renal tubular resorption, Dilated cardiomyopathy, Hypercalciuria, ...	ORPHA:73224
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Intrahepatic Cholestasis Of Pregnancy	Small for gestational age, Abnormal pineal melatonin secretion, Hypothyroidism	ORPHA:69665
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites	ORPHA:2414
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Trichohepatoneurodevelopmental Syndrome	Joint laxity, Simple ear, EEG abnormality, Distal arthrogryposis, Recurrent pancreatitis, Hypopla...	OMIM:618268
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch...	OMIM:615812
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Cryptorchidism, Hypoalbuminem...	OMIM:618183
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Hypoglycemia, Portal hypertension, Cholestasis, Hypo...	OMIM:613658
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme...	ORPHA:52368
Steinert Myotonic Dystrophy	Oral-pharyngeal dysphagia, Male hypogonadism, Insulin resistance, Dilated cardiomyopathy, Depress...	ORPHA:273
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Eosinophilia, Myocardi...	ORPHA:139402
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Hypocalcemia, A...	ORPHA:2306
Immunodeficiency 31C	Osteopenia, Diabetes mellitus, Osteomyelitis, Weight loss, Delayed puberty, Hypothyroidism	OMIM:614162
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal ...	OMIM:252900
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Agitation, Hyperur...	ORPHA:134
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Anorexia, Splen...	ORPHA:33226
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Secondary Short Bowel Syndrome	Aganglionic megacolon, Weight loss, Central hypothyroidism, Primary hypothyroidism, Failure to th...	ORPHA:95427
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Hyperthyroidism, Generalized joint laxity, Primary amenorrhea, Lipoma, Increas...	ORPHA:502423
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Irritability, Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures	OMIM:264700
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:617099
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv...	OMIM:222700
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ...	ORPHA:157215
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas physiolog...	ORPHA:93111
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Failure to thrive, Foot joint contracture, Scarring, Cryptor...	ORPHA:90321
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors, Abnorma...	ORPHA:534
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Cholera	Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Irr...	ORPHA:173
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer...	OMIM:619518
Scrub Typhus	Splenomegaly, Myocarditis, Renal insufficiency, Lymphadenopathy	ORPHA:83317
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Joint contracture, Failure to thrive, Optic atrophy	OMIM:616881
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Anuria, Myocarditis, Leukocytos...	ORPHA:544482
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hydrocele t...	ORPHA:79330
Melas	Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Sensorineural hearing impai...	ORPHA:550
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen...	OMIM:612852
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Pheochromocytoma	Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Posteriorly rotated ears, Optic atrophy, Congenital hypothyroidism, Contractures of the large joi...	OMIM:617527
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A...	OMIM:613986
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Hypoglycemia, Elevated circulating creatine kinase concentratio...	OMIM:608779
Isolated Biliary Atresia	Small for gestational age, Atretic gallbladder, Bile duct proliferation, Severe failure to thrive...	ORPHA:30391
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Anorexia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cel...	ORPHA:169160
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Dilated Cardiomyopathy With Ataxia	Bilateral cryptorchidism, Optic atrophy, Hypothyroidism, Bilateral sensorineural hearing impairment	ORPHA:66634
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Spondyloenchondrodysplasia With Immune Dysregulation	Sclerosis of skull base, Low-set ears, Rheumatoid arthritis, Recurrent otitis media, Juvenile rhe...	OMIM:607944
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte...	OMIM:600501
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral reflux, Atrial septal defect, Hypospadias,...	ORPHA:567
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration	OMIM:603233
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Multinodular goiter	OMIM:618373
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
45,X/46,Xy Mixed Gonadal Dysgenesis	Low-set, posteriorly rotated ears, Male infertility, Streak ovary, Unilateral cryptorchidism, Bil...	ORPHA:1772
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Macrocephaly/Autism Syndrome	Short attention span, Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia	OMIM:605309
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Abnormal intrahepatic ...	ORPHA:363618
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly...	ORPHA:83471
Xq21 Microdeletion Syndrome	Stapes ankylosis, Decreased response to growth hormone stimulation test, Dilatated internal audit...	ORPHA:1435
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph...	OMIM:615934
Sepsis In Premature Infants	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:90051
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy...	OMIM:230800
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leuk...	ORPHA:32960
Schimke Immuno-Osseous Dysplasia	Proteinuria, Microscopic hematuria, Minimal change glomerulonephritis, Thrombocytopenia, Hyperlip...	ORPHA:1830
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Pericardial effusion, ...	OMIM:615846
Bilateral Polymicrogyria	Sensorineural hearing impairment, Central hypothyroidism, Facial diplegia, Abnormal glossopharyng...	ORPHA:268940
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Transcobalamin Deficiency	Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop...	ORPHA:859
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Premature ovarian insufficiency, Small for gesta...	ORPHA:221008
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Elevated circulating...	ORPHA:93126
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T...	ORPHA:760
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Confusion, Depression, Irritability, Hyperphosphatemi...	ORPHA:79444
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Hypospadias, Unilateral cryptorchidism, Female infertility, Crypt...	ORPHA:261529
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio...	ORPHA:94090
Cerebrotendinous Xanthomatosis	Osteopenia, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased n...	ORPHA:909
Autosomal Dominant Hypocalcemia	Hypercalciuria, Depression, Nephrocalcinosis, Fatigable weakness, Hyperphosphatemia, Hypocalcemia...	ORPHA:428
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Papillorenal Syndrome	Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr...	OMIM:120330
Staphylococcal Necrotizing Pneumonia	Diabetes mellitus, Neutrophilia, Confusion, Elevated circulating C-reactive protein concentration...	ORPHA:36238
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Jaundice, ...	ORPHA:1333
Cystinosis, Nephropathic	Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syn...	OMIM:219800
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Decreas...	OMIM:251290
Cryoglobulinemic Vasculitis	Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Splenomegaly, Mediastinal lympha...	ORPHA:91138
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega...	ORPHA:75565
Lymphatic Malformation 6	Abnormal pinna morphology, Cupped ear, Hydrocele testis, Cellulitis, Hypothyroidism, Hearing impa...	OMIM:616843
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cho...	ORPHA:293173
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple...	OMIM:216360
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Pseudohypoparathyroidism Type 1B	Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP res...	ORPHA:94089
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Elevat...	OMIM:617478
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Cholecystitis, Hepatome...	ORPHA:99827
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Thyroiditis, Enlarged lacrimal glands, Weight loss, Enlargement of parotid gland, Nod...	ORPHA:79078
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Talipes, Micrognathia, Talipes equinovarus, Broad distal phalanx of fing...	OMIM:300990
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Lymphadenopathy	ORPHA:26790
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Neutrophilia, Confusion, Leukocytosis, Dilated cardiomy...	ORPHA:3260
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Pineal cyst, Protruding ear, Interictal ep...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Protruding ear, Interictal ep...	ORPHA:363958
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Digeorge Syndrome	Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Thrombocytopenia, Sple...	OMIM:188400
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Galloway-Mowat Syndrome 10	Congenital hypothyroidism	OMIM:619609
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Premature ovarian insufficiency, Proteinuria,...	OMIM:610965
Intellectual Developmental Disorder, Autosomal Dominant 42	Posteriorly rotated ears, EEG with burst suppression, Sensorineural hearing impairment, EEG with ...	OMIM:616973
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, D...	ORPHA:280365
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Anhidrosis, Abnormal pinna morphology, Abno...	OMIM:216400
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Carcinoid Syndrome	Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Abnormal B-type natriuretic...	ORPHA:100093
Treacher-Collins Syndrome	Failure to thrive, Abnormal dental enamel morphology, Cryptorchidism, Abnormality of the adrenal ...	ORPHA:861
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone ...	OMIM:613388
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte...	OMIM:164745
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit...	ORPHA:91350
Yellow Fever	Renal insufficiency, Neutrophilia, Anuria, Elevated circulating creatine kinase concentration, Ac...	ORPHA:99829
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Anorexia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndr...	OMIM:557000
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia,...	OMIM:277460
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis...	OMIM:269200
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
White-Kernohan Syndrome	Joint laxity, Obesity, Low-set ears, Recurrent otitis media, Macrotia, Hypothyroidism, Simple ear	OMIM:619426
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur...	OMIM:170100
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Premature thelarche, Sensorineural hearing impairment, Optic atrophy, Hypothyroidism, Premature p...	OMIM:616878
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Micropenis, Hypocalcemic seizures	OMIM:241410
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Anhidrosis, Abnormal pinna morphology, Small for gestational...	OMIM:133540
Spondyloenchondrodysplasia	Hypothyroidism, Arthritis, Juvenile rheumatoid arthritis, Decreased response to growth hormone st...	ORPHA:1855
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glomerular sclerosi...	OMIM:223900
Pseudoxanthoma Elasticum	Multiple lipomas, Hypothyroidism, Joint hyperflexibility	ORPHA:758
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph...	ORPHA:1572
Microform Holoprosencephaly	Hypothyroidism, Panhypopituitarism, Maternal diabetes	ORPHA:280200
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, Irritability, Lymphopenia, A...	ORPHA:391307
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Mixed hearing impairment, Absent nipple, Aplasia of the thymus, Facial palsy, Optic disc coloboma...	OMIM:620186
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Proteinu...	ORPHA:77261
Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Hypocalcemia, Atrial ...	OMIM:300712
Juvenile Polyposis Of Infancy	Refractory anemia, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defect, Anemia	ORPHA:79076
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Increased blood ur...	OMIM:154230
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Dysphagia, Hepato...	OMIM:608013
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Myopathy, Mitochondrial, And Ataxia	Hyperthyroidism, Primary amenorrhea, Multiple lipomas, Increased circulating prolactin concentrat...	OMIM:617675
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Irritability, Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures	ORPHA:289157
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Vacuolated lymphocytes, Dilated card...	OMIM:230500
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Bilateral sensorineural hearing impairment, Macrotia, Thyroid hypoplasia, Congenital hypothyroidism	ORPHA:521445
Cousin Syndrome	Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, 4-5 toe syndactyly, Humerorad...	OMIM:260660
8Q24.3 Microdeletion Syndrome	Microretrognathia, Pes planus, Long toe, Congenital hip dislocation, Short femur, Rocker bottom f...	ORPHA:508488
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Polydactyly	ORPHA:17
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Joubert Syndrome 38	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Posteriorly rotated ea...	OMIM:619476
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Confusion, Elevated circulating C-reactive pr...	ORPHA:319213
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Congenital hypothyroidism, Lingual thyroid	OMIM:606519
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Joint laxity, Optic nerve hypoplasia, Craniosynostosis, Sagittal craniosynostosis, Su...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Joint laxity, Optic nerve hypoplasia, Craniosynostosis, Sagittal craniosynostosis, Su...	ORPHA:352665
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia,...	OMIM:619055
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, Dementia,...	OMIM:607625
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
Pseudohypoparathyroidism Type 1A	Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm...	ORPHA:79443
Adult-Onset Autosomal Dominant Leukodystrophy	Anhidrosis, Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatose...	ORPHA:99027
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Anorexia	ORPHA:1302
Aicardi-Goutieres Syndrome 1	Hypothyroidism, Diabetes insipidus	OMIM:225750
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration	OMIM:614204
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Ren...	OMIM:260920
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Craniosynostosis, Cryptorchidism, Absence of subcutaneous fat, Microtia, Low-set ears, Hypothyroi...	OMIM:620005
Majeed Syndrome	Hepatomegaly, Proteinuria, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic...	ORPHA:77297
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Atrial septal defect, Micropenis, ...	OMIM:243800
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Compulsive behaviors, Hepatomegaly, Self-muti...	ORPHA:2388
Duplication Of The Pituitary Gland	Abnormality of joint mobility, Abnormal pituitary gland morphology, Abnormal hypothalamus morphol...	ORPHA:314621
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro...	ORPHA:3077
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Optic atrophy, Hypothyroidism	OMIM:251900
Gaucher Disease	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal...	ORPHA:355
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Mental deterioration, Inappropriate laughter, Hypocalcemia, Cognitive impairment	OMIM:618476
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Posterior pituitary hypoplasia, Abnormality of the anterior pituitary, Abnormal pinna morphology	ORPHA:75389
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Gabriele-De Vries Syndrome	Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Craniosynostosis...	ORPHA:506358
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res...	ORPHA:293978
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi...	OMIM:613471
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enlargement, Pulmonic stenosis,...	OMIM:616028
Ventilator-Induced Diaphragmatic Dysfunction	Hypothyroidism	ORPHA:505395
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Oliguria, Hyperphosp...	ORPHA:466650
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis...	ORPHA:251066
Fg Syndrome Type 1	Limited elbow extension and supination, Inguinal hernia, Progressive flexion contractures, Optic ...	ORPHA:93932
Myasthenia Gravis	Hyperthyroidism, Primary adrenal insufficiency, Abnormal thymus morphology, Rheumatoid arthritis,...	ORPHA:589
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly...	OMIM:256040
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism	ORPHA:99927
3-Methylglutaconic Aciduria Type 7	Hypothyroidism	ORPHA:445038
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Lymphadenopathy, ...	ORPHA:333
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,...	OMIM:231005
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Absent peripheral lymph nodes in presence of infection, Increased B cell ...	ORPHA:98813
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Vestibular areflexia, Osteopetrosis	ORPHA:3240
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Familial Isolated Hypoparathyroidism	Nephropathy, Hypocalcemia	ORPHA:2238
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Schinzel-Giedion Syndrome	Inguinal hernia, Streak ovary, Abnormality of the stapes, Failure to thrive in infancy, Aganglion...	ORPHA:798
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, An...	ORPHA:97287
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, Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:619260
Trisomy 10P	Absent gallbladder, Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked...	ORPHA:171929
Mucopolysaccharidosis Type 6	Splenomegaly, Mucopolysacchariduria, Abnormal heart valve morphology, Cognitive impairment	ORPHA:583
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Velocardiofacial Syndrome	Ventricular septal defect, Aggressive behavior, Cryptorchidism, Hypocalcemia, Emotional lability,...	OMIM:192430
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Hypocalcemia, Low frustration tolerance, Micropenis, Pelvic kidney, Hepatic steato...	OMIM:619503
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ...	OMIM:612310
Nephroblastoma	Hematuria, Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Hallermann-Streiff Syndrome	Recurrent fractures, Cryptorchidism, Reduced bone mineral density, Tracheomalacia, Hypothyroidism	ORPHA:2108
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatoblastoma, Anorexia, Neoplasm of the thymus, Pancreatic adenocarcinoma, Fatiguable weakne...	ORPHA:99889
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu...	OMIM:243150
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Intellectual Developmental Disorder, X-Linked 98	Failure to thrive, Macrotia, Hypsarrhythmia, Central hypothyroidism	OMIM:300912
Microphthalmia, Syndromic 6	Failure to thrive, Female hypogonadism, Posteriorly rotated ears, Adrenal hypoplasia, Uplifted ea...	OMIM:607932
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Ethylene Glycol Poisoning	Renal insufficiency, Confusion, Hyperkalemia, Renal tubular epithelial necrosis, Euphoria, Renal ...	ORPHA:31826
Cranioectodermal Dysplasia 1	Hepatomegaly, Bicuspid aortic valve, Malformation of the hepatic ductal plate, Renal magnesium wa...	OMIM:218330
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p...	OMIM:617718
Vici Syndrome	Lymphopenia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Decrease...	OMIM:242840
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Decreased response to growth hormone...	ORPHA:444077
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Multiple muscular ventricular septal defects, Hypoalbuminemia, Pulmonic stenosis	OMIM:615508
Biotinidase Deficiency	Splenomegaly, Organic aciduria, Hyperammonemia, Hepatomegaly	OMIM:253260
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insuff...	ORPHA:227982
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Inguinal hernia, Small for gestational age, Decreased response to growth hormone stimulation test...	ORPHA:268261
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Premature Ovarian Failure 13	Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Hypospadias, Decreased testicular size	OMIM:610644
Cutis Marmorata Telangiectatica Congenita	Hypothyroidism, Reduced bone mineral density	ORPHA:1556
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Renal tubular dysfunction, Enuresis, Glycosuria, Nep...	ORPHA:69076
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Xerostomia, Thymoma, A...	ORPHA:227990
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Abnormal heart morphology, Hyp...	ORPHA:2237
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100080
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Fragile X-Associated Tremor/Ataxia Syndrome	Impotence, Hypothyroidism, Abnormal autonomic nervous system physiology	ORPHA:93256
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mitral valve prolapse, Hila...	OMIM:620233
Pancreatoblastoma	Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph nod...	ORPHA:677
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100075
Sanjad-Sakati Syndrome	Cryptorchidism, Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Ataxia-Telangiectasia	Diabetes mellitus, Female hypogonadism, Elevated circulating alpha-fetoprotein concentration, Acu...	OMIM:208900
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Hypothyroidism, Osteolysis, Hearing impairment	ORPHA:1052
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Iro...	ORPHA:100078
Aicardi-Goutières Syndrome	Multiple joint contractures, Lipoatrophy, Diabetes mellitus, Arthritis, Panniculitis, Low-set ear...	ORPHA:51
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Beckwith-Wiedemann Syndrome	Omphalocele, Otosclerosis, Inguinal hernia, Adrenocortical cytomegaly, Congenital diaphragmatic h...	ORPHA:116
Microphthalmia, Syndromic 2	Posteriorly rotated ears, Asymmetry of the ears, Anteverted ears, Hypothyroidism, Cryptorchidism,...	OMIM:300166
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Cryptorchidism, Supernumerary nipple, Congenital hypothyroidism	ORPHA:2519
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Atrial septal defec...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Atrial septal defec...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Atrial septal defec...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Atrial septal defec...	ORPHA:881
Tuberous Sclerosis 2	Precocious puberty, Shagreen patch, Adenoma sebaceum, Hypothyroidism, Hearing impairment	OMIM:613254
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Functional abnormality of the bladder, ...	ORPHA:391487
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Brain abscess, Extrahepatic portal hypertension, Hepatic arteriovenous ...	ORPHA:2929
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Macrotia, Hypothyroidism	ORPHA:457212
Primrose Syndrome	Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Joint hypermobility, Calcific...	OMIM:259050
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Joint laxity, Posteriorly rotated ears, Abnormality of thyroid physiology, Low-set ears, Unilater...	OMIM:300968
Coccidioidomycosis	Pericarditis, Renal insufficiency, Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal ...	ORPHA:228123
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Micrognathia, Hypoplastic ilia, Long fingers, Slender long ...	OMIM:264090
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora...	OMIM:614868
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Leukocytosis, Cervical l...	ORPHA:2331
Coffin-Siris Syndrome 12	Joint laxity, Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Crypto...	OMIM:619325
Papa Syndrome	Type I diabetes mellitus, Proteinuria, Lymphadenopathy	ORPHA:69126
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Leprechaunism	Reduced subcutaneous adipose tissue, Enlarged ovaries, Hyperinsulinemia, Central hypothyroidism, ...	ORPHA:508
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Pgm3-Cdg	Hemolytic anemia, Membranoproliferative glomerulonephritis, Abnormal proportion of CD8-positive T...	ORPHA:443811
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Adrenal hypoplasia, Flexion contracture, Epiphyseal stippling, Umbilical hernia, Thyroid hypoplas...	OMIM:308050
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadeno...	ORPHA:342
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Camptodactyly of finger, Joint stiffness, Cryptorchidism, Sens...	ORPHA:1606
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatospleno...	OMIM:608233
Gaucher Disease, Type Ii	Hepatomegaly, Progressive neurologic deterioration, Splenomegaly, Anemia, Dysphagia, Thrombocytop...	OMIM:230900
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Elevated circulating uroporphy...	OMIM:263700
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Impaired glucose tolerance, Polyuria, Insulin resistance, Glucose intoleran...	OMIM:606721
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ...	ORPHA:91500
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op...	ORPHA:206436
Semilobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:220386
Alobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93926
Lobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93924
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Abnormal pinna morphology, Vertigo, Small pituitary gland, Severe sensorineura...	OMIM:614195
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Congenital hypothyroidism, Delayed ossification of carpal bones, Laryngotracheomalaci...	OMIM:271510
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Mixed hearing impairment, Cryp...	OMIM:620305
Tuberous Sclerosis 1	Dental enamel pits, Precocious puberty, Adenoma sebaceum, Hypothyroidism, Shagreen patch	OMIM:191100
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100082
Mucopolysaccharidosis Type 2	Hepatomegaly, Hyperactivity, Short attention span, Abnormal heart valve morphology, Abnormal pulm...	ORPHA:580
Behçet Disease	Pericarditis, Renal insufficiency, Confusion, Anorexia, Orchitis, Splenomegaly, Endocarditis, Lym...	ORPHA:117
Interstitial Lung And Liver Disease	Failure to thrive, Hypothyroidism	OMIM:615486
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Hypocalcemic seizures, Anemia, Hepatomegaly	OMIM:612301
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Sensorineural hearing impairment, Compensated hypothyroidism, Optic atrophy	ORPHA:480864
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia	ORPHA:79396
Primary Sjögren Syndrome	Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Glomerulonephritis, Biliary cir...	ORPHA:289390
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia	OMIM:620365
Infantile Nephropathic Cystinosis	Failure to thrive, Rickets, Abnormality of thyroid physiology	ORPHA:411629
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Hypothyroidism	OMIM:618569
Charge Syndrome	Lymphopenia, Overriding aorta, Ventricular septal defect, Hypogonadotropic hypogonadism, Secundum...	OMIM:214800
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Ascites, A...	OMIM:615710
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Optic disc pallor, Abnormality of the endocrine system, Precocious pube...	ORPHA:438213
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Menorrhagia, Abnormal number of alpha granules	OMIM:139090
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Low-set, posteriorly rotated ears, Adrenal hypoplasia, Cryptorchidism, Umbilical her...	ORPHA:2166
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot...	ORPHA:293987
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta...	OMIM:251300
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc pallor, Posteriorly rotated ears, Camptodactyly of finger, Asymmetry of the ears, Thic...	OMIM:607872
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Thro...	OMIM:153670
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Conge...	ORPHA:2255
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Down Syndrome	Joint laxity, Aganglionic megacolon, Microtia, Conductive hearing impairment, Hypothyroidism	OMIM:190685
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hy...	ORPHA:2035
Scleromyxedema	Abnormality of central nervous system electrophysiology, Abnormality of thyroid physiology	ORPHA:167635
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia,...	ORPHA:508542
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula...	OMIM:619525
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
African Trypanosomiasis	Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Aggressive behavior, Abnor...	ORPHA:3385
Fusariosis	Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Gr...	ORPHA:228119
Cushing Disease	Increased urinary cortisol level, Diabetes mellitus, Impaired glucose tolerance, Paradoxical incr...	ORPHA:96253
Niemann-Pick Disease Type C	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Aggressive behavior, Splenomegaly, Jaundice,...	ORPHA:646
Thyrotoxic Periodic Paralysis	Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi...	ORPHA:79102
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Bili...	OMIM:613610
Pallister-Hall Syndrome	Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Low-set, posteriorly rota...	ORPHA:672
Cardiogenic Shock	Confusion, Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Peripartum Cardiomyopathy	Diabetes mellitus, Abnormality of thyroid physiology, Obesity	ORPHA:563
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Ventricular septal defect, Aggressive behavior, Hair-pulling, Polyphagia, Self-injur...	OMIM:620330
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia	OMIM:617827
Phace Syndrome	Hypothyroidism, Optic nerve hypoplasia, Ectopic thyroid	ORPHA:42775
Townes-Brocks Syndrome 1	Overfolding of the superior helices, Small for gestational age, Cryptorchidism, Sensorineural hea...	OMIM:107480
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Camptodactyly of finger, Hypoplastic ilia, Long fingers, 2-...	ORPHA:3455
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Erectile dysfunction, EEG abnormality	ORPHA:206448
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, D...	ORPHA:536
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Dysphagia, Neutropenia, Vesicoureteral reflux...	OMIM:618460
Mend Syndrome	Abnormal auditory evoked potentials, Wide anterior fontanel, Cryptorchidism, Low-set ears, Failur...	ORPHA:401973
Igg4-Related Ophthalmic Disease	Cholangitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitoneal...	ORPHA:449563
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis...	ORPHA:100086
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Mitral valve calcification, Pancytopenia, Abnormality of the spleen, Aortic valve calcification, ...	ORPHA:2072
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Dysphagia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Acrocardiofacial Syndrome	Cryptorchidism, Hyperthyroidism, Camptodactyly of finger, Low-set ears	ORPHA:2008
Camurati-Engelmann Disease	Hepatomegaly, Anorexia, Splenomegaly, Leukopenia, Urinary retention, Hypogonadism, Hypertrophic c...	ORPHA:1328
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Carney Triad	Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy, Ascites, Anemia	ORPHA:139411
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c...	OMIM:619767
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Sponastrime Dysplasia	Joint laxity, Small for gestational age, Precocious puberty, Hypothyroidism, Delayed epiphyseal o...	ORPHA:93357
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Pericardial effusion, Splenome...	OMIM:181000
Blau Syndrome	Pericarditis, Splenomegaly, Stage 5 chronic kidney disease, Lymphadenopathy, Abnormality of the l...	ORPHA:90340
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Enamel hypoplasia, Hyperthyroidism, Low-set ears	OMIM:170390
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Renal artery stenosis, Myocardial steato...	ORPHA:391665
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Lymphangioleiomyomatosis	Abnormal urinary color, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, H...	ORPHA:538
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morph...	ORPHA:449432
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual...	ORPHA:906
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Tricuspid ste...	ORPHA:100079
Hepatoerythropoietic Porphyria	Hemolytic anemia, Abnormal circulating porphyrin concentration, Splenomegaly, Red-brown urine, Re...	ORPHA:95159
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Riddle Syndrome	Emotional lability, Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentra...	ORPHA:420741
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Proteinuria, Hypogonadotropic hypogonadism, Pericard...	ORPHA:79318
Whim Syndrome	Lymphadenitis, Tetralogy of Fallot, Abnormal neutrophil morphology, Neutropenia, Lymphopenia	ORPHA:51636
Melkersson-Rosenthal Syndrome	Lymphadenopathy, Oligosacchariduria	ORPHA:2483
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea	OMIM:110100
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Hyperphosphatemia, Hypocalcemic tetany, Decreased testicular size, Hypocalcemic seizures	ORPHA:93325
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Bifid femur, Aplasia/hypoplasia of the femur, Clinodactyly of th...	ORPHA:2769
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Flexion contracture, Posteriorly rotated ears, Small pituitary gland, Low-set ears	OMIM:619479
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect,...	OMIM:600001
Kabuki Syndrome 1	Posteriorly rotated ears, Premature thelarche, Cryptorchidism, Protruding ear, Congenital hypothy...	OMIM:147920
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Brachydactyly, Abnormal distal phalanx morphology of finger, Micromelia, Micrognathia, Aplastic c...	ORPHA:2636
Genitopatellar Syndrome	Hip contracture, Cryptorchidism, Knee flexion contracture, Radioulnar synostosis, Hypothyroidism,...	OMIM:606170
Townes-Brocks Syndrome	External ear malformation, Cryptorchidism, Abnormal tragus morphology, Microtia, Delayed puberty,...	ORPHA:857
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Plague	Hepatomegaly, Anorexia, Splenomegaly, Lymphadenitis, Endocarditis, Enlarged mesenteric lymph node...	ORPHA:707
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Aggressive behavior...	ORPHA:353281
Doors Syndrome	Adrenal hyperplasia, Sagittal craniosynostosis, Optic atrophy, Congenital hypothyroidism, EEG abn...	ORPHA:79500
Viss Syndrome	Joint laxity, Exostosis of the external auditory canal, Inguinal hernia, Failure to thrive, Poste...	OMIM:619472
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Cognitive impairment, Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Peters Plus Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Cryptorchidism, Optic atrophy, Congenital hyp...	ORPHA:709
Kinsship Syndrome	Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Mesomelia...	OMIM:619297
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Hepa...	ORPHA:64
Ovarian Dysgenesis 3	Primary amenorrhea, Female infertility	OMIM:614324
Ring Chromosome 13 Syndrome	Macrotia, Hypoplasia of the gallbladder, Posteriorly rotated ears, Primary hypothyroidism	ORPHA:96176
Malakoplakia	Proteinuria, Dysuria, Follicular hyperplasia, Abnormality of the menstrual cycle, Urinary bladder...	ORPHA:556
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopathia striata, Fibular hypoplasia...	OMIM:300373
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Compulsive behaviors, Vesicoureteral reflux, Atrial septal defect, Abnorma...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Compulsive behaviors, Vesicoureteral reflux, Atrial septal defect, Abnorma...	ORPHA:353277
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin...	ORPHA:289176
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Chikungunya	Depression, Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625

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
Spleen - 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
Kidney - MPATH pathological process term hypoplasia	Duox2^em1(IMPC)Mbp	HOM	Early adult
Uterus - 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
Liver - 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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