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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 spleen morphology	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased freezing behavior	Duox2^em1(IMPC)Mbp	HOM	Early adult	3.35×10^-29
decreased heart weight	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.99×10^-08
small liver	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
small heart	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal lymph node morphology	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased prepulse inhibition	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.89×10^-39
decreased liver weight	Duox2^em1(IMPC)Mbp	HOM	Early adult	1.11×10^-09
decreased exploration in new environment	Duox2^em1(IMPC)Mbp	HOM	Early adult	4.95×10^-15
enlarged lymph nodes	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating cholesterol level	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.37×10^-21
abnormal heart morphology	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
female infertility	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased red blood cell distribution width	Duox2^em1(IMPC)Mbp	HOM	Early adult	3.26×10^-07
small kidney	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased mean corpuscular volume	Duox2^em1(IMPC)Mbp	HOM	Early adult	3.45×10^-09
increased neutrophil cell number	Duox2^em1(IMPC)Mbp	HOM	Early adult	3.03×10^-07
decreased grip strength	Duox2^em1(IMPC)Mbp	HOM	Early adult	1.84×10^-35
increased circulating total protein level	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.03×10^-07
increased circulating calcium level	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.92×10^-05
increased circulating serum albumin level	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.08×10^-08
increased fasting circulating glucose level	Duox2^em1(IMPC)Mbp	HOM	Early adult	3.24×10^-05
increased circulating HDL cholesterol level	Duox2^em1(IMPC)Mbp	HOM	Early adult	1.78×10^-07
abnormal kidney morphology	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
small spleen	Duox2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating creatinine level	Duox2^em1(IMPC)Mbp	HOM	Early adult	2.54×10^-07
decreased lymphocyte cell number	Duox2^em1(IMPC)Mbp	HOM	Early adult	5.83×10^-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 (1642 diseases)

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

Disease	Matching phenotypes	Source
Familial Thyroid Dyshormonogenesis	Elevated circulating thyroid-stimulating hormone concentration, Sensorineural hearing impairment,...	ORPHA:95716
Thyroid Dyshormonogenesis 6	Hypothyroidism, Congenital hypothyroidism	OMIM:607200
Genetic Transient Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Umbilical her...	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	Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ...	OMIM:619598
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	OMIM:274300
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Rhizomelic Chondrodysplasia Punctata, Type 3	Short femur, Short humerus, Rhizomelia, Epiphyseal stippling	OMIM:600121
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia	OMIM:246570
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology	OMIM:259270
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Pendred Syndrome	Thyroid carcinoma, Abnormal vestibular function, Cochlear malformation, Congenital sensorineural ...	OMIM:274600
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho...	ORPHA:2779
Thyroid Hormone Metabolism, Abnormal, 1	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	OMIM:609698
Hyperthyroidism, Nonautoimmune	Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat...	OMIM:609152
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Thyroid Hormone Metabolism, Abnormal, 3	Increased circulating free T3, Abnormal thyroid-stimulating hormone level, Abnormal circulating f...	OMIM:620198
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R...	OMIM:249700
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Genu valgum, Coxa valga, Hip dysplasia, Acetabular dysplasia, Talipes equinovarus	OMIM:613618
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi...	OMIM:147891
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goiter, Activating thyroid-stim...	ORPHA:424
Metaphyseal Anadysplasia 2	Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg...	OMIM:613073
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, Arthralgia of the hip, Cox...	OMIM:609324
Coxopodopatellar Syndrome	Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morphology, Abnormality of the kne...	ORPHA:1509
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated...	OMIM:605274
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Thyroid Dyshormonogenesis 3	Increased T3/T4 ratio, Goiter, Thyroid carcinoma, Compensated hypothyroidism	OMIM:274700
Familial Gestational Hyperthyroidism	Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goiter, Activating thyroid-stim...	ORPHA:99819
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter, Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged v...	OMIM:600791
Thyroid Dyshormonogenesis 2A	Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter, Decreased circu...	OMIM:274500
Hyperthyroxinemia, Familial Dysalbuminemic	Euthyroid hyperthyroxinemia, Abnormal thyroid-stimulating hormone level, Increased circulating fr...	OMIM:615999
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T3, Impaired sensitivity to thyroid hormone, Increased circulating fre...	OMIM:188570
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Elevated circul...	OMIM:619868
Familial Thyroid Dyshormonogenesis	Elevated circulating thyroid-stimulating hormone concentration, Sensorineural hearing impairment,...	ORPHA:95716
Fetal Iodine Deficiency Disorder	Congenital goiter, Hearing impairment, Congenital hypothyroidism	OMIM:228355
Blount Disease	Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi...	ORPHA:2768
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Irregular capital femoral epiphysis, Wide proximal femoral metaph...	OMIM:142669
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga...	ORPHA:1972
Rhabdoid Tumor	Irritability, Hematuria, Anemia, Lymphadenopathy, Hypercalcemia, Thrombocytopenia, Neoplasm of th...	ORPHA:69077
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	OMIM:127300
Epiphyseal Dysplasia, Multiple, 5	Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of...	OMIM:607078
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Nephrotic syndrome, Hypercalcemia, Splenomegaly, Hy...	ORPHA:29073
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph...	ORPHA:240
Pendred Syndrome	Thyroid carcinoma, Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Hypot...	ORPHA:705
Wolfram-Like Syndrome	Delayed puberty, Central diabetes insipidus, Optic atrophy, Male hypogonadism, Abnormal pinna mor...	ORPHA:411590
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Jaundice, Hepatomega...	OMIM:267700
Epiphyseal Dysplasia, Multiple, 7	Monkey wrench femoral neck, Flat acetabular roof, Epiphyseal dysplasia, Hypoplasia of the capital...	OMIM:617719
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi...	ORPHA:93323
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short...	OMIM:612447
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenome...	OMIM:612526
Graves Disease	Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Hyper...	OMIM:275000
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap...	OMIM:135750
Gaisböck Syndrome	Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ...	ORPHA:90041
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Pituitary Dwarfism With Large Sella Turcica	Hypothyroidism, Decreased response to growth hormone stimulation test	OMIM:262710
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr...	OMIM:232700
Familial Papillary Or Follicular Thyroid Carcinoma	Papillary thyroid carcinoma, Nodular goiter, Follicular thyroid carcinoma, Goiter, Recurrent frac...	ORPHA:319487
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir...	ORPHA:766
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans...	ORPHA:247585
Spondylometaphyseal Dysplasia, Corner Fracture Type	Corner fracture of metaphysis, Coxa vara, Hypoplasia of the odontoid process, Short femoral neck,...	OMIM:184255
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hearing...	ORPHA:99886
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Rothmund-Thomson Syndrome, Type 1	Premature ovarian insufficiency, Recurrent otitis media, Osteoporosis, Hypothyroidism, Male hypog...	OMIM:618625
Fetal Iodine Syndrome	Hypothyroidism, Sensorineural hearing impairment	ORPHA:1910
Multiple Endocrine Neoplasia, Type Iia	Aganglionic megacolon, Pheochromocytoma, Thyroid C cell hyperplasia, Elevated circulating calcito...	OMIM:171400
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid...	OMIM:613239
Congenital Atransferrinemia	Hypothyroidism, Arthritis	ORPHA:1195
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Delaye...	ORPHA:226313
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Irritability, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopeni...	OMIM:603553
Epiphyseal Dysplasia, Multiple, 4	Flat capital femoral epiphysis, Talipes equinovarus, Short metacarpal, Hypoplasia of the femoral ...	OMIM:226900
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri...	OMIM:205950
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/...	ORPHA:988
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism	Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism	OMIM:300123
Spondyloepimetaphyseal Dysplasia, Missouri Type	Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low...	ORPHA:93356
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Thyroid Cancer, Nonmedullary, 1	Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter	OMIM:188550
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Papillary thyroid carcinoma, Recurrent fractures	ORPHA:97290
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Hematuria, Anemia, Increased mean corpuscular volume, Ventricular septa...	OMIM:617021
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Goiter, Hearing impairment, Female infertility	OMIM:617577
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Anemia, Ascites, Hypercalcemia, Thrombocytopenia, Renal insufficiency	ORPHA:2123
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatic steatosis, Azoospermia, In...	OMIM:615703
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly, Dementia	ORPHA:2274
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor...	OMIM:250460
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Jaundice, Hypocalcemia, Cholestasis, Cognitive impairment, Splenomegaly	ORPHA:172
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentrati...	OMIM:615234
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Femoral bowing, Dumbbell-shaped long bone, Micromelia, Micrognathia, Metaphyseal wide...	ORPHA:440354
Hypothyroidism, Congenital, Nongoitrous, 1	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Hypothyroidism, Thyroid h...	OMIM:275200
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:306000
Thyroid Dyshormonogenesis 6	Hypothyroidism, Congenital hypothyroidism	OMIM:607200
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re...	OMIM:300888
Sickle Cell Anemia	Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Maffucci Syndrome	Neoplasm of the parathyroid gland, Ovarian neoplasm, Neoplasm of the adrenal cortex, Pituitary ad...	ORPHA:163634
Carney Complex, Type 1	Thyroid carcinoma, Pheochromocytoma, Pituitary adenoma, Elevated circulating growth hormone conce...	OMIM:160980
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Immunodeficiency 27A	Anorexia, Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesen...	OMIM:209950
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency	OMIM:262700
Galactokinase Deficiency	Premature ovarian insufficiency, Hyperinsulinemia, Hepatomegaly, Increased level of galactitol in...	ORPHA:79237
Mccune-Albright Syndrome	Ovarian cyst, Monostotic fibrous dysplasia, Polyostotic fibrous dysplasia, Abnormal endocrine phy...	ORPHA:562
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Unconjugated hyperbilirubinemia, Reticulocytosis, Circulating nu...	OMIM:613673
Refractory Celiac Disease	Normocytic anemia, Elevated circulating hepatic transaminase concentration, Iron deficiency anemi...	ORPHA:398063
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Retinal Dystrophy With Or Without Extraocular Anomalies	Secondary amenorrhea, Goiter, Premature ovarian insufficiency	OMIM:617175
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Erectile dysfunction, Vertigo, Impotence, Female hypogonadism, Hyperhidrosis, Hy...	ORPHA:91347
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Maternal Uniparental Disomy Of Chromosome 9	Low-set ears, Hamstring contractures, Congenital hypothyroidism, Failure to thrive, Elbow ankylosis	ORPHA:96183
Granulomatous Slack Skin	Acute kidney injury, Abnormal lymph node morphology, Nephrocalcinosis, Hypercalcemia	ORPHA:33111
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Leukopenia, Splenomeg...	OMIM:278000
Leishmaniasis	Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concen...	ORPHA:507
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Seconda...	OMIM:613313
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Hypocalcemia, Decreased proportion of C...	ORPHA:90362
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu...	OMIM:301033
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Pituicytoma	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo...	ORPHA:251623
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa...	ORPHA:75234
Thyroid Dyshormonogenesis 1	Hypothyroidism, Goiter, Umbilical hernia	OMIM:274400
Tibial Hemimelia	Absent tibia	OMIM:275220
Thyroid Cancer, Nonmedullary, 4	Goiter, Ovarian neoplasm, Papillary thyroid carcinoma	OMIM:616534
Bangstad Syndrome	Goiter, Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mell...	OMIM:210740
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, H...	OMIM:615895
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr...	OMIM:308240
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t...	ORPHA:1802
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Portal fibrosis, Elevated circulating hepatic trans...	ORPHA:264580
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Epiphyseal dysplasia, Short phalanx of finge...	ORPHA:79106
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Elevated circulating hepatic transaminase concentr...	ORPHA:98870
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly	OMIM:300484
Thyrocerebroretinal Syndrome	Goiter, Sensorineural hearing impairment	OMIM:274240
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypoglycemia, Hypergonadotropic hypogonadism, Increased blood urea ni...	OMIM:617872
Femoral-Facial Syndrome	Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia...	ORPHA:1988
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Macrocytic anemia, Hyperhomocystinemia, Pancytopenia, Increased mean c...	ORPHA:2169
Allan-Herndon-Dudley Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Underfolded superior helices, Hyp...	OMIM:300523
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Hypercholesterolemia, Decreased circulating ceruloplasmin concentration...	OMIM:616829
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Thyrocerebrorenal Syndrome	Euthyroid goiter, Sensorineural hearing impairment	ORPHA:3327
Leptospirosis	Anorexia, Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, P...	ORPHA:509
Beta-Thalassemia Intermedia	Decreased liver function, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hy...	ORPHA:231222
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic...	ORPHA:811
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Hypothyroidism, Hypogonadism, Cryptorchidi...	ORPHA:3363
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas...	OMIM:262600
Macrophage Activation Syndrome	Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Elevated ...	ORPHA:158061
Glutaric Aciduria Iii	Goiter, Failure to thrive, Hyperthyroidism	OMIM:231690
Metaphyseal Chondrodysplasia, Schmid Type	Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace...	OMIM:156500
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Hepatomega...	OMIM:607616
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemic seizures, Atrial septal defect, Hyperinsulinemia, Hyperammonemia, Increased C-peptid...	OMIM:620211
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Aganglionic megacolon, Ganglioneuromatosis, Pheoc...	ORPHA:653
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Cog4-Cdg	Irritability, Cirrhosis, Elevated circulating hepatic transaminase concentration, Thrombocytopeni...	ORPHA:263501
Hyperparathyroidism, Neonatal Severe	Polydipsia, Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Hyperc...	OMIM:239200
Hypothyroidism, Congenital, Nongoitrous, 4	Decreased thyroid-stimulating hormone level, Wide anterior fontanel, Omphalocele, Hypothyroidism,...	OMIM:275100
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, ...	OMIM:226990
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Elevated circulating alanine am...	OMIM:613752
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Non-Acquired Panhypopituitarism	Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s...	ORPHA:90695
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Increased pituitary glycop...	ORPHA:90674
Gne Myopathy	Hypothyroidism, Limited wrist extension, Facial palsy, Limited shoulder movement	ORPHA:602
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Anorexia, Isothenuria, Hypokalemia, Reticulocytosis, Nephrocalcinosis, Hepatosplenomegaly, Distal...	OMIM:611590
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Fasting hypoglycem...	ORPHA:79240
Mantle Cell Lymphoma	Anorexia, Splenomegaly, Lymphadenopathy	ORPHA:52416
Dominant Beta-Thalassemia	Irritability, Cirrhosis, Abnormality of iron homeostasis, Jaundice, Hypochromic microcytic anemia...	ORPHA:231226
Thyroid Lymphoma	Hypothyroidism, Hashimoto thyroiditis, Goiter, Hyperthyroidism	ORPHA:97285
Ascher Syndrome	Hypothyroidism, Goiter	ORPHA:1253
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Hyperthyroidism, Weight loss	OMIM:188580
Hypophosphatasia	Irritability, Hypercalcemia, Anemia	ORPHA:436
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated...	OMIM:615559
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Langer Mesomelic Dysplasia	Abnormal carpal morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bones, Micro...	ORPHA:2632
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform...	OMIM:619313
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, Abnormal heart morphology, T lymphocytopenia	DECIPHER:16
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Hypothyroidism	OMIM:619647
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Ascites, Hydronephrosis...	OMIM:235255
Genetic Transient Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Umbilical her...	ORPHA:226316
Pelviscapular Dysplasia	Hypoplastic ilia, Congenital hip dislocation, Humeroradial synostosis, Mesomelic leg shortening, ...	ORPHA:93333
Epiphyseal Dysplasia, Baumann Type	Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypoplasia of the femoral head,...	OMIM:610797
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
Rhabdomyosarcoma, Embryonal, 2	Goiter, Ovarian thecoma, Thyroid nodule, Multinodular goiter	OMIM:180295
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin...	OMIM:201170
Blepharochalasis And Double Lip	Goiter	OMIM:109900
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip subluxation, Wide distal femoral metaphysis, Arthralgia of the hip, Coxa vara, Flattened femo...	ORPHA:99642
Hyperthyroxinemia, Dystransthyretinemic	Euthyroid hyperthyroxinemia	OMIM:145680
Morgagni-Stewart-Morel Syndrome	Abnormality of the endocrine system, Vertigo, Hyperostosis frontalis interna, Osteoporosis, Hypot...	ORPHA:77296
Thyrotropin-Releasing Hormone Deficiency	Hypothyroidism, Hypothalamic hypothyroidism	OMIM:275120
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Hypoproteinemia, Ascit...	OMIM:226300
Multiple Endocrine Neoplasia Type 1	Adrenocortical abnormality, Neoplasm of the pancreas, Amenorrhea, Reduced bone mineral density, P...	ORPHA:652
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Autoinflammation With Infantile Enterocolitis	Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Thrombocytopenia, Sp...	OMIM:616050
Hemochromatosis, Type 3	Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Impot...	OMIM:604250
Osteofibrous Dysplasia, Susceptibility To	Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Wolcott-Rallison Syndrome	Jaundice, Neutropenia, Hepatomegaly, Iron deficiency anemia, Elevated circulating hepatic transam...	ORPHA:1667
Blue Diaper Syndrome	Abnormal abdomen morphology, Abnormal circulating tryptophan concentration, Hypercalcemia, Nephro...	OMIM:211000
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Medullary Thyroid Carcinoma	Pheochromocytoma, Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Nod...	ORPHA:1332
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hypothyroidism, Hashimoto thyroiditis, Goiter, Abnormal autonomic nervous system physiology	ORPHA:83601
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Cardiomyopathy, Increased circulating iron con...	OMIM:602390
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials...	OMIM:609129
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Burkitt Lymphoma	Abnormal lymph node morphology, Hyperuricemia, Decreased proportion of CD4-positive helper T cell...	ORPHA:543
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbi...	OMIM:300908
Beta-Thalassemia Major	Anisopoikilocytosis, Irritability, Cirrhosis, Abnormality of iron homeostasis, Jaundice, Hepatome...	ORPHA:231214
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Atelosteogenesis Type Ii	Sandal gap, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomelia, U...	ORPHA:56304
Igg4-Related Thyroid Disease	Euthyroid goiter, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituita...	ORPHA:64744
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th...	OMIM:613839
Diamond-Blackfan Anemia 6	Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem...	OMIM:612561
Cowden Syndrome 5	Thyroiditis, Subcutaneous lipoma, Hypothyroidism, Hearing impairment, Ovarian cyst, Thyroid adeno...	OMIM:615108
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Azoospermia...	ORPHA:300298
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Decreased liver function, Elevated circulating hepatic transaminase concent...	ORPHA:167
Anaplastic Thyroid Carcinoma	Anaplastic thyroid carcinoma, Goiter, Nodular goiter, Weight loss	ORPHA:142
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Ascites, Hydronephrosis...	ORPHA:1655
Hypophosphatasia, Infantile	Anorexia, Irritability, Anemia, Hypercalciuria, Elevated plasma pyrophosphate, Elevated urine pyr...	OMIM:241500
Pseudoachondroplasia	Short long bone, Flat acetabular roof, Increased laxity of ankles, Hypoplastic pelvis, Metaphysea...	ORPHA:750
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu...	OMIM:618805
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involvin...	ORPHA:371428
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Argininuria, Decrease...	ORPHA:470
Pediatric-Onset Graves Disease	Increased circulating T4 concentration, Increased circulating free T3, Craniosynostosis, Thyrotox...	ORPHA:525731
Johanson-Blizzard Syndrome	Anemia, Hypospadias, Dextrocardia, Hypoplasia of penis, Hypoproteinemia, Hydronephrosis, Exocrine...	ORPHA:2315
Oculoskeletodental Syndrome	Hepatomegaly, Hypocalcemia, Hypercalciuria, Mucopolysacchariduria, Hypercalcemia, Splenomegaly	OMIM:618440
Post-Traumatic Pituitary Deficiency	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:95619
Congenital Enterovirus Infection	Myocarditis, Irritability, Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Fet...	ORPHA:292
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Nephrotic syndrome, Thrombocytopenia, Proteinuria...	OMIM:615008
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react...	OMIM:613011
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia, Lymphopenia, Intestinal lymphangiectasia	OMIM:207731
Blue Diaper Syndrome	Elevated circulating hepatic transaminase concentration, Blue urine, Increased proinsulin:insulin...	ORPHA:94086
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly...	OMIM:619013
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Hypercalcemia, Proteinuria, Renal insufficiency	ORPHA:2668
Hypergonadotropic Hypogonadism-Cataract Syndrome	Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Osteopor...	ORPHA:2410
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b...	OMIM:211350
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Obesity, Congenital hypothyroidism	ORPHA:88643
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly...	ORPHA:540
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Joubert Syndrome 26	Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism	OMIM:616784
Late-Onset Isolated Acth Deficiency	Anorexia, Normocytic anemia, Premature ovarian insufficiency, Macrocytic anemia, Hyperuricemia, H...	ORPHA:199299
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, Type I diabetes mellitus, T-cell acute lymphoblastic leukemias...	OMIM:620044
Cowden Syndrome 6	Thyroiditis, Subcutaneous lipoma, Hypothyroidism, Hearing impairment, Ovarian cyst, Thyroid adeno...	OMIM:615109
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, Decreased motor nerve conduction velocity, Flexion contracture	OMIM:619851
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Thyroid C cell hyperplasia	OMIM:300952
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Testicular Anomalies With Or Without Congenital Heart Disease	Abnormality of thyroid physiology, Cryptorchidism, Inguinal hernia, Testicular dysgenesis	OMIM:615542
Foxp1 Syndrome	Hypoplastic helices, Recurrent otitis media, Hypothyroidism, Failure to thrive, Overweight, Flexi...	ORPHA:391372
Familial Hyperprolactinemia	Osteopenia, Hemorrhagic ovarian cyst, Infertility, Osteoporosis, Female hypogonadism, Oligomenorr...	ORPHA:397685
Trimethylaminuria	Trimethylaminuria, Anemia, Depression, Splenomegaly, Neutropenia	OMIM:602079
Beta-Thalassemia	Irritability, Abnormality of iron homeostasis, Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic...	ORPHA:848
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Decreased HDL cholesterol concentration, Decreased glomerular filtratio...	ORPHA:85450
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy...	ORPHA:97289
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Potocki-Shaffer Syndrome	Delayed puberty, Hypothyroidism, Decreased skull ossification	ORPHA:52022
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Hyperammonemia, Thrombocytopenia, S...	ORPHA:79312
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact...	OMIM:258860
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	ORPHA:26793
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Congenital Toxoplasmosis	Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concen...	ORPHA:858
Castleman Disease	Jaundice, Hematuria, Mediastinal lymphadenopathy, Elevated circulating C-reactive protein concent...	ORPHA:160
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Ascites, Focal segmental glomerulosclerosis, Proteinuria, Reduced renal c...	OMIM:603278
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Hypercholesterolemia	OMIM:608320
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses	OMIM:601071
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Reduced...	OMIM:613038
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Progressive psychomotor deterioration, Polyphagia, Episodic hemolytic anemia, In...	ORPHA:251004
Congenital Disorder Of Glycosylation, Type Il	Atrial septal defect, Hepatomegaly, Polycystic kidney dysplasia, Ascites, Pericardial effusion, S...	OMIM:608776
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Combined Pituitary Hormone Deficiencies, Genetic Forms	Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s...	ORPHA:95494
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Cholest...	OMIM:608104
Premature Ovarian Failure 10	Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ...	OMIM:612885
Hypothyroidism, Congenital, Nongoitrous, 6	Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidism, Omphalocele, Impaired se...	OMIM:614450
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recu...	OMIM:620357
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria	OMIM:230350
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Short greater sciatic notch, Femoral bowing, Split hand, Bowing o...	ORPHA:1860
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Irritability, Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricul...	OMIM:618278
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal thumb morphology, Tarsal synostosis, Abnormal tibia morphology, Abnormal hip bone morpho...	ORPHA:2639
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di...	ORPHA:166016
Relapsing Fever	Acute kidney injury, Jaundice, Hematuria, Anemia, Elevated circulating C-reactive protein concent...	ORPHA:91547
Hypothyroidism, Congenital, Nongoitrous, 5	Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla...	OMIM:225250
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Delayed puberty, Low-set, posteriorly rotated ears, Microtia, Limitation of joint mobility, Hypot...	ORPHA:2994
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:612462
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Hepatic steatosis, Hyperinsulinemia, Cirrhosis, Hepatomegaly, Amenorrhea, H...	ORPHA:528
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sple...	OMIM:614480
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, El...	OMIM:617056
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Amelia, Foot oligodactyly	OMIM:601357
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Deafness, Autosomal Recessive 104	Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit...	OMIM:616515
Chromosome 1P35 Deletion Syndrome	Sensorineural hearing impairment, Congenital hypothyroidism, Hearing impairment, Posteriorly rota...	OMIM:617930
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel...	OMIM:108720
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Sitosterolemia 1	Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic he...	OMIM:210250
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Hypothyroidism, Congenital, Nongoitrous, 9	Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu...	OMIM:301035
Glut1 Deficiency Syndrome 2	Irritability, Reduced haptoglobin level, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612126
Pituitary Stalk Interruption Syndrome	Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Septo-optic dysplasia, Abnormality of th...	ORPHA:95496
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hepatic fibrosis, Hypera...	OMIM:620454
Immunodeficiency 69	Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom...	OMIM:618963
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	ORPHA:453533
Hypercalcemia, Infantile, 2	Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ...	OMIM:616963
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating C-reactive protein co...	ORPHA:54251
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glucose intoler...	OMIM:235200
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Weismann-Netter Syndrome	Squared iliac bones, Fibular bowing, Anterior tibial bowing, Lateral femoral bowing	OMIM:112350
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis,...	OMIM:619802
Pseudohypoparathyroidism, Type Ia	Elevated circulating parathyroid hormone level, Osteoporosis, Subcutaneous ossification, Pseudohy...	OMIM:103580
Aicardi-Goutieres Syndrome 9	Elevated circulating hepatic transaminase concentration, Ascites, Pericarditis, Left ventricular ...	OMIM:619487
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Ddost-Cdg	Primary hypothyroidism, Failure to thrive, Lipodystrophy, Osteopenia	ORPHA:300536
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Homocystinuria, Hyperhomocystinemia, Increased mean corpuscular volume, M...	OMIM:277410
Precocious Puberty, Central, 1	Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l...	OMIM:176400
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Confusion, Reticulocytosis, Decreased serum creatinine, Thrombocy...	ORPHA:54057
Ivic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T...	OMIM:147750
Dengue Fever	Hepatomegaly, Hypoproteinemia, Ascites, Thrombocytopenia, Leukopenia	ORPHA:99828
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Cowden Syndrome 1	Thyroiditis, Subcutaneous lipoma, Hypothyroidism, Hearing impairment, Ovarian cyst, Thyroid adeno...	OMIM:158350
Achondroplasia	Narrow greater sciatic notch, Rhizomelia, Ulnar bowing, Flared metaphysis, Femoral bowing, Short ...	OMIM:100800
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Thrombocytosis, Elevated circulating C-reactive protein concentration, L...	OMIM:614034
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio...	OMIM:206100
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Irritability, Normocytic anemia, Glomerular sclerosis, Memory impairment, Depression, Normochromi...	ORPHA:247691
Hawkinsinuria	Hypothyroidism, Failure to thrive	ORPHA:2118
Branchiootorenal Syndrome 1	Euthyroid goiter, Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplas...	OMIM:113650
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Non-Functioning Pituitary Adenoma	Erectile dysfunction, Vertigo, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insu...	ORPHA:91349
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con...	ORPHA:158057
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve...	OMIM:241600
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Secundum atrial sept...	OMIM:612562
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia, Lymphopenia	ORPHA:1116
Bangstad Syndrome	Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Primary gonadal insufficiency, Abno...	ORPHA:1227
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses	OMIM:166740
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul...	OMIM:617303
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:367
Mccune-Albright Syndrome	Craniofacial hyperostosis, Precocious puberty, Hearing impairment, Pituitary adenoma, Hyperthyroi...	OMIM:174800
Bile Acid Synthesis Defect, Congenital, 5	Increased total iron binding capacity, Jaundice, Increased serum bile acid concentration, Hepatom...	OMIM:616278
Hypothyroidism Due To Tsh Receptor Mutations	Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s...	ORPHA:90673
Addison Disease	Hyperkalemia, Renal salt wasting, Normocytic anemia, Premature ovarian insufficiency, Anorexia, H...	ORPHA:85138
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ...	ORPHA:56305
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Jaundice, Hepatomegaly, Dextrocardia, Hypokalemia, Polycystic kidney dysp...	OMIM:613095
Poems Syndrome	Erectile dysfunction, Abnormality of the endocrine system, Sclerosis of hand bone, Hypothyroidism...	ORPHA:2905
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
Hyperparathyroidism 2 With Jaw Tumors	Polycystic kidney dysplasia, Recurrent pancreatitis, Nephrolithiasis, Hypercalcemia, Pancreatic a...	OMIM:145001
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Spondyloepimetaphyseal Dysplasia, Missouri Type	Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,...	OMIM:602111
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Lymphangiectasis, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepatomegaly, Proximal t...	OMIM:602579
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Prolactinoma	Delayed puberty, Erectile dysfunction, Vertigo, Dyspareunia, Impotence, Female hypogonadism, Hypo...	ORPHA:2965
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla...	OMIM:218700
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Preeclampsia	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Abnormality of the ...	ORPHA:275555
Reni Syndrome	Hypertriglyceridemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial s...	OMIM:617575
Congenital Macroglossia	Hypothyroidism	ORPHA:2430
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Conjugated hyper...	OMIM:269920
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, N...	OMIM:608836
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Acute Adrenal Insufficiency	Hyperkalemia, Renal salt wasting, Normocytic anemia, Anorexia, Hyperuricemia, Decreased female li...	ORPHA:95409
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Hypothyroidism, EEG abnormality, Cryptorchidism, Inguinal hernia	OMIM:613970
Congenital Disorder Of Glycosylation, Type Ii	Hypsarrhythmia, Sensorineural hearing impairment, Low-set ears, Decreased body weight, Hypothyroi...	OMIM:607906
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Elevated circulating C-reactive protei...	OMIM:619644
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis, Hypercal...	OMIM:143880
Monosomy 13Q34	Pulmonic stenosis, Common atrium, Hypercalcemia, Metrorrhagia, Insulin resistance, Hepatic steatosis	ORPHA:96168
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration, Anemia,...	ORPHA:75563
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Harderoporphyria	Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge...	OMIM:618892
Functioning Gonadotropic Adenoma	Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h...	ORPHA:91348
Renal Failure, Progressive, With Hypertension	Microscopic hematuria, Nephritis, Proteinuria, Elevated circulating creatinine concentration, Sta...	OMIM:161900
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc...	OMIM:613179
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly...	OMIM:300635
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o...	OMIM:227270
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Bent Bone Dysplasia Syndrome 2	Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor...	OMIM:620076
Fatco Syndrome	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli...	ORPHA:2492
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Hypothyroidism	ORPHA:663
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing, Small epiphyses, Hypopl...	OMIM:608728
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Elevated circulating hepatic transaminase co...	ORPHA:284426
Acromesomelic Dysplasia, Hunter-Thompson Type	Tarsal synostosis, Abnormally shaped carpal bones, Cuboidal metacarpal, Short metacarpal, Abnorma...	ORPHA:968
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit...	OMIM:127550
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Majeed Syndrome	Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid...	OMIM:609628
Spondyloepiphyseal Dysplasia Congenita	Genu valgum, Abnormal foot morphology, Small epiphyses, Upper limb undergrowth, Short long bone, ...	ORPHA:94068
Rh Deficiency Syndrome	Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Spherocytosis, Hypoch...	ORPHA:71275
Plin1-Related Familial Partial Lipodystrophy	Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Abnormal circulating ...	ORPHA:280356
Symptomatic Form Of Hfe-Related Hemochromatosis	Stiff interphalangeal joints, Erectile dysfunction, Arthritis, Decreased libido, Infertility, Tes...	ORPHA:465508
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Neonatal hypoglycemia, Agitation, Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia, C...	OMIM:619046
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Hypothyroidism, Infertility	OMIM:264300
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir...	OMIM:618528
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Myocarditis, Hepatomegaly, Anemia, Generalized lymphade...	ORPHA:829
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Decreased liver function, Elevated circulating he...	ORPHA:275761
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Paget Disease Of Bone 2, Early-Onset	Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing, Bowing of the long bones...	OMIM:602080
Al Amyloidosis	Hepatomegaly, Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnorma...	ORPHA:85443
Adamantinoma	Hypercalcemia	ORPHA:55881
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper...	OMIM:214900
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Triphalangeal thumb, Abnormal metacarpal morphology,...	ORPHA:2378
Sandhoff Disease	Splenomegaly, Hepatomegaly, Progressive psychomotor deterioration, Motor deterioration	ORPHA:796
Babesiosis	Anorexia, Jaundice, Hepatomegaly, Depression, Confusion, Leukopenia, Splenomegaly, Thrombocytopen...	ORPHA:108
Pituitary Carcinoma	Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ...	ORPHA:300385
Glycogen Storage Disease Ixb	Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia, Splenomegaly, Hypoglycemia	OMIM:261750
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormality of thyroid physiology, Decreased thyroid-stimulating hormone level, Wide anterior fon...	ORPHA:95715
Atelosteogenesis Type I	Abnormal fibula morphology, Rhizomelia, Short long bone, Micrognathia, Limb undergrowth, Brachyda...	ORPHA:1190
Pearson Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocyt...	ORPHA:699
Microcephaly-Micromelia Syndrome	Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synostosis, Missing ribs, Micrognathi...	OMIM:251230
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Depression, Cardiomyopathy, Elevated circulating creatin...	OMIM:300842
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wi...	ORPHA:2502
Nephrotic Syndrome, Type 2	Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine...	OMIM:600995
Panhypophysitis	Abnormal thalamic MRI signal intensity, Sensorineural hearing impairment, Impotence, Abnormal pos...	ORPHA:95513
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Pancreatitis, Hypocalciuria, Depression, Parathormone-independent increased rena...	OMIM:600740
Acquired Aneurysmal Subarachnoid Hemorrhage	Memory impairment, Leukocytosis, Cognitive impairment, Addictive alcohol use, Hyperglycemia, Prog...	ORPHA:90065
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Liver Failure, Infantile, Transient	Irritability, Dicarboxylic aciduria, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, El...	OMIM:613070
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate...	OMIM:601559
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep...	OMIM:607115
X-Linked Agammaglobulinemia	Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Thrombocyt...	ORPHA:47
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Hypocalcemic Vitamin D-Dependent Rickets	Irritability, Hypocalcemic seizures, Hepatomegaly, Generalized aminoaciduria, Hypocalcemia, Cardi...	ORPHA:289157
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Reduce...	ORPHA:99832
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Trichohepatoenteric Syndrome 1	Cholestasis, Cognitive impairment, Pulmonic stenosis, Renal cortical microcysts, Splenomegaly, Ja...	OMIM:222470
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Genu valgum, Fibular bowing, Rickets of the lower limbs, Delayed epiphyseal ossification, Tibial ...	OMIM:600785
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Portal...	OMIM:605814
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly	OMIM:258865
Hyperparathyroidism 4	Hypercalcemia, Nephrolithiasis	OMIM:617343
Developmental And Epileptic Encephalopathy 90	Hypothyroidism, Hypsarrhythmia, EEG with burst suppression	OMIM:301058
Adenohypophysitis	Abnormal thalamic MRI signal intensity, Orthostatic hypotension, Reduced circulating prolactin co...	ORPHA:95512
Aicardi-Goutieres Syndrome 6	Irritability, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Ménétrier Disease	Anorexia, Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Athyreosis	Hypothyroidism, Thyroid agenesis	ORPHA:95713
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Charcot-Marie-Tooth Disease, Type 4B1	Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials	OMIM:601382
Glucagonoma	Anorexia, Steatorrhea, Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Normochr...	ORPHA:97280
Coach Syndrome 2	Elevated circulating hepatic transaminase concentration, Portal fibrosis, Hepatic fibrosis, Conge...	OMIM:619111
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop...	OMIM:620603
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Abnormal pinna morphology, Large fleshy ears, Obesity, Congenital hypothyroidism	ORPHA:352530
Vipoma	Anorexia, Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Hypokalemia, Normochr...	ORPHA:97282
Intellectual Disability-Strabismus Syndrome	Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Recurrent...	ORPHA:363528
Potocki-Lupski Syndrome	Hypothyroidism, Hearing impairment, Failure to thrive, EEG abnormality, Small for gestational age	OMIM:610883
Microphthalmia With Limb Anomalies	Sandal gap, Short long bone, Tibial bowing, Broad thumb, Hip dislocation, Fibular hypoplasia, Tar...	ORPHA:1106
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Hemolytic-uremic syndrome, Confusion, Reticulocytosis, Increased blood urea nitrogen, M...	OMIM:274150
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Slc35A2-Cdg	Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Metatarsus adductus, Camptod...	ORPHA:356961
Alg1-Cdg	Decreased liver function, Cardiomyopathy, Nephrotic syndrome, Abnormal heart morphology, Hypoalbu...	ORPHA:79327
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Flared metaphysis, Short ribs, Decreased fibular diameter, Micrognathia, Limb undergrowth, Fractu...	OMIM:616897
Nephrotic Syndrome, Type 1	Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Proteinuria...	OMIM:256300
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalciuria, Hypercalcemia, Hypospadias, Micropenis	OMIM:614732
Oculoskeletodental Syndrome	Hypocalcemia, Nephrocalcinosis, Hypercalcemia	ORPHA:557003
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hepatocellular adenoma, Tubulointerstitial fi...	ORPHA:79259
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Delayed puberty, Sensorineural hearing impairment, Dorsocervical fat pad, Decreased body weight, ...	ORPHA:391408
Li-Campeau Syndrome	Hypothyroidism, Cryptorchidism, Low-set ears	OMIM:619189
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Hypothyroidism, Umbilical hernia	ORPHA:2349
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Smith-Magenis Syndrome	Hypertriglyceridemia, Hyperactivity, Head-banging, Self hugging, Abnormal heart morphology, Motor...	OMIM:182290
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypothyroidism, Infertility, Cryptorchidism, Hypogonadotropic hypogonadism	ORPHA:752
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Delayed puberty, Decreased sensory nerve conduction velocity, Hyperechogenic pancreas, Aplasia/Hy...	ORPHA:456312
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy...	ORPHA:1414
Polyendocrine-Polyneuropathy Syndrome	Anterior pituitary hypoplasia, Progressive hearing impairment, Central hypothyroidism, Decreased ...	OMIM:616113
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility	ORPHA:488191
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Depres...	OMIM:301310
Bamforth-Lazarus Syndrome	Thyroid agenesis, Congenital hypothyroidism	OMIM:241850
Intellectual Developmental Disorder, Autosomal Dominant 67	Hypothyroidism	OMIM:619927
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Sensorineural hearing impairment, Optic nerve hypopl...	ORPHA:226307
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Acute kidney injury, Minimal chan...	ORPHA:567548
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Alg6-Cdg	Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice	ORPHA:79320
Somatostatinoma	Anorexia, Steatorrhea, Neoplasm of the pancreas, Intrahepatic cholestasis, Gallbladder dysfunctio...	ORPHA:97283
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Galloway-Mowat Syndrome 6	Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight	OMIM:618347
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	3-Methylglutaconic aciduria, Hepatomegaly, Renal hypoplasia, Anisocytosis, Aminoaciduria, Lactica...	OMIM:604273
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici...	ORPHA:37042
Multiple Endocrine Neoplasia, Type Iib	Aganglionic megacolon, Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyro...	OMIM:162300
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Reduced haptoglobin level, Hemolytic-uremic syndrome, Anemia, Schistocytosis, Lymphopenia, Leukop...	OMIM:301110
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, Spl...	OMIM:613490
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymphadenopath...	ORPHA:100083
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Dysphagia, High nonceruloplasmin-b...	OMIM:277900
Thalidomide Embryopathy	Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han...	ORPHA:3312
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Hypospadias, Normochromic anemia, Acute myeloid l...	ORPHA:124
Ravine Syndrome	Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials	ORPHA:99852
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:98754
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Spondylometaphyseal Dysplasia, Schmidt Type	Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Genu valgum, Abn...	ORPHA:93316
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Female hypogonadism, Hypothy...	OMIM:240300
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Short humerus, Short femur, Short t...	OMIM:607143
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Non-Functioning Paraganglioma	Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Elevated ur...	ORPHA:94080
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffus...	OMIM:616730
Marburg Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Reticulocytosis, Hyperammonemia, Pericar...	ORPHA:99826
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Autosomal Dominant Progressive External Ophthalmoplegia	Facial diplegia, Facial palsy, Osteoporosis, Hypothyroidism, Hearing impairment, Failure to thriv...	ORPHA:254892
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Premature pubarche, Small pituitary gland, Infertility, Osteoporosis, Central hypothy...	ORPHA:398079
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Pancreatitis, Cholangitis, Cholelithiasis, Sclerosing cholangitis, Live...	ORPHA:69663
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Maternal diabetes, Pancreatitis, Hyperuricemia, Se...	ORPHA:79083
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ...	OMIM:119800
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Compulsive behaviors, Hypercalcemia, Motor stereotypy, Attention deficit hy...	ORPHA:476126
Multiple Epiphyseal Dysplasia Type 4	Skewfoot, Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of ...	ORPHA:93307
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Peric...	ORPHA:79126
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt...	ORPHA:97214
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Failure to thrive, Dec...	OMIM:614736
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:98793
Bacterial Toxic-Shock Syndrome	Myocarditis, Increased circulating metamyelocyte count, Hypocalcemia, Confusion, Increased circul...	ORPHA:36234
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly	ORPHA:79238
Congenital Disorder Of Glycosylation, Type Ij	Jaundice, Hypoproteinemia, Elevated circulating hepatic transaminase concentration, Aggressive be...	OMIM:608093
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Elevated circulating hepatic transaminase concentration, Increased b...	OMIM:614817
2P21 Microdeletion Syndrome	Hypocalcemia, Nephrolithiasis, Hypogonadism, Hypoglycemia, Cystinuria	ORPHA:163693
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Pancreatitis, Infertility, Delayed menarche, Hypothyroidism, Oligomenorrhea, Hearing impairment, ...	ORPHA:412057
Legionnaires Disease	Myocarditis, Anorexia, Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hepatitis, Hyponatremi...	ORPHA:549
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Delayed puberty, Sensorineural hearing impairment, Hearing impairment, Hypothyroidism, Macrotia, ...	OMIM:616817
Immunodeficiency 53	Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Cystinosis	Delayed puberty, Rickets, Nephrogenic diabetes insipidus, Hypothyroidism, Failure to thrive, Type...	ORPHA:213
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ...	OMIM:164900
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating hepatic transaminase concentration, Abnormal circulating homocysteine concen...	ORPHA:88618
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Jaundice, Cirrhosis, Hepatome...	ORPHA:186
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Hepatomegaly, Jaundice, Reduced haptoglobin level, Cholelithiasis, Redu...	OMIM:266200
Uremic Pruritus	Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease...	ORPHA:94059
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Decreased response to growth hormone stimulation test, Interictal epileptiform activity, Panhypop...	OMIM:618922
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:177904
Osteopetrosis, Autosomal Recessive 5	Irritability, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hy...	OMIM:259720
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Small pituitary gland, Osteoporosis, Decreased testicular size, Primary amenorrhea, C...	OMIM:614880
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Eosinophilic Gastroenteritis	Steatorrhea, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Ascites...	ORPHA:2070
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Abnormal renal corticomedullary differentiation, L...	OMIM:616733
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle	OMIM:619011
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce...	ORPHA:177901
14Q11.2 Microduplication Syndrome	Hypothyroidism, Obesity	ORPHA:261229
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Anorexia, Pancytopeni...	ORPHA:77259
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Asc...	ORPHA:457077
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Primary Membranoproliferative Glomerulonephritis	Acute kidney injury, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Chronic kidney disea...	ORPHA:54370
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Cognitive impairment, Dementia, Hypoalbuminem...	OMIM:208920
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia, Dysphagia, Dilated cardiomyopathy, Ventricul...	ORPHA:261250
Niemann-Pick Disease, Type A	Irritability, Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Asci...	OMIM:257200
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Primary Myelofibrosis	Anorexia, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Port...	ORPHA:824
Focal Segmental Glomerulosclerosis 6	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, ...	OMIM:614131
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing...	OMIM:613091
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalciuria, Nephrocalcinosis, Hypercalcemia, Renal tubular acidosis	OMIM:239199
Intellectual Developmental Disorder, Autosomal Dominant 52	Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Low-set ears, Bilateral crypto...	OMIM:617796
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Biliary cirrhosis, Leukopenia, Abn...	ORPHA:2298
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Tibial bowing, Forearm undergrowth, Micrognathia, Low...	ORPHA:314795
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Reduced bone minera...	ORPHA:2235
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple...	OMIM:602450
Nephrotic Syndrome, Type 9	Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r...	OMIM:615573
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Jaundice, Intrahepatic cholestasis, Hepatic fibrosis, Elevated circulat...	OMIM:617093
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia	ORPHA:2591
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd...	OMIM:617609
Mirage Syndrome	Hyperkalemia, Anemia, Hypospadias, Microphallus, Hypergonadotropic hypogonadism, Hyponatremia, Hy...	OMIM:617053
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short long bo...	OMIM:616300
Woodhouse-Sakati Syndrome	Delayed puberty, Osteopenia, Decreased response to growth hormone stimulation test, Hyperinsuline...	ORPHA:3464
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo...	OMIM:206200
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi...	ORPHA:85414
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:1451
Multiple Endocrine Neoplasia, Type Iv	Pancreatic endocrine tumor, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thyroiditis, C...	OMIM:610755
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Hepatomegaly, Premature ovarian insufficiency, Elevated circulating hepatic transami...	OMIM:212065
Familial Isolated Hyperparathyroidism	Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia, Renal insuf...	ORPHA:99879
Bamforth-Lazarus Syndrome	Thyroid agenesis, Congenital hypothyroidism	ORPHA:1226
Mpi-Cdg	Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Portal hypertension, Hypoa...	ORPHA:79319
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Cognitive impairment, Inc...	OMIM:235400
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut...	OMIM:238600
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Anemia, Elevated circulating hepatic transaminase concentration, Leu...	ORPHA:67
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly, Hypoglycemia, Aminoaciduria, Hepatic failure	ORPHA:664
Alstrom Syndrome	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes insipidus, Prog...	OMIM:203800
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Orofaciodigital Syndrome Vi	Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly...	OMIM:277170
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Elevated circulating...	ORPHA:567544
Atelis Syndrome 1	Hypothyroidism, Microtia, Glue ear	OMIM:620184
Stormorken Syndrome	Anemia, Hematuria, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asple...	OMIM:185070
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly	OMIM:259700
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Genetic Steroid-Resistant Nephrotic Syndrome	Irritability, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria,...	ORPHA:656
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Brain-Lung-Thyroid Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Hypoparathyroidism, Sensorineural...	ORPHA:209905
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypocystinemia, Hypohomocysteinemia, Decreased serum creatinine, Bicuspid aortic valve, Atrial se...	OMIM:617744
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Cowden Syndrome	Neoplasm of the thyroid gland, Adenoma sebaceum, Lipoma, Bone cyst, Enlarged polycystic ovaries, ...	ORPHA:201
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Sensorineural hearing impairment, Facial palsy, Absent brainstem audit...	OMIM:617519
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Renal hypoplasia, Proteinuria, Elevated circu...	OMIM:614376
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Delayed puberty, Decreased response to growth hormone stimulation test, Bilateral camptodactyly, ...	OMIM:619234
Silver-Russell Syndrome Due To A Point Mutation	Inguinal hernia, Low-set ears, Hypothyroidism, Dysmenorrhea, Cryptorchidism, Small for gestationa...	ORPHA:397590
19P13.12 Microdeletion Syndrome	Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ears, Arthrogryposis multipl...	ORPHA:254346
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Eleva...	OMIM:619750
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid agenesis, Abnormal antihelix morphology, Thyroid hypoplasia, Low-set ears, Hypothyroidism...	ORPHA:3047
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Delayed puberty, Small pituitary gland, Reduced subcutaneous adipose tissue, Limb joint contractu...	OMIM:612079
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca...	OMIM:145981
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Aregenerative Anemia	Lymphadenopathy, Erythroid hypoplasia, Pancytopenia, Fatigable weakness of skeletal muscles, Emot...	ORPHA:101096
Thyroid Hormone Resistance, Selective Pituitary	Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti...	OMIM:145650
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased...	ORPHA:300373
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Patent foramen ovale, Hypoplastic spleen, Dysphagia	ORPHA:89844
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, In...	ORPHA:100924
Acrodysostosis 2 With Or Without Hormone Resistance	Congenital hypothyroidism, Diabetes mellitus, Obesity, Advanced ossification of carpal bones, Cry...	OMIM:614613
Nabais Sa-De Vries Syndrome, Type 2	Microtia, Low-set ears, Hypothyroidism, Posteriorly rotated ears, Protruding ear, Failure to thri...	OMIM:618829
Boomerang Dysplasia	Absent radius, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Irritability, Pancreatitis, Hypokalemia, Anuria, Leukocytosis, Unconjugated ...	ORPHA:90038
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n...	OMIM:612925
Prader-Willi Syndrome	Small pituitary gland, Decreased circulating gonadotropin concentration, Hypogonadism, Central ad...	ORPHA:739
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail...	ORPHA:171
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Cholestatic liver disease, Neonatal hypoglycemia, Cirrhosis, Hepatomegaly, ...	OMIM:619418
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n...	OMIM:612926
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Depression, Thrombocytopenia, Splenomegaly, Progressive neurologic de...	OMIM:231000
Grfoma	Anorexia, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Abnor...	ORPHA:97261
Aggressive Systemic Mastocytosis	Anorexia, Decreased liver function, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast c...	ORPHA:98850
Diffuse Alveolar Hemorrhage	Anemia, Hematuria, Leukocytosis, Thrombocytopenia, Proteinuria, Elevated circulating creatinine c...	ORPHA:90060
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap...	ORPHA:1788
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia, Ventricular septal defect	OMIM:620210
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Osteogenesis Imperfecta, Type X	Genu valgum, Fibular bowing, Rhizomelia, Tibial bowing, Bowing of the long bones, Micromelia, Mic...	OMIM:613848
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne...	OMIM:619774
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Acrodysostosis 1 With Or Without Hormone Resistance	Elevated circulating thyroid-stimulating hormone concentration, Optic atrophy, Elevated circulati...	OMIM:101800
Primary Ciliary Dyskinesia	Situs inversus totalis, Male infertility, Transposition of the great arteries, Abnormal atrial ar...	ORPHA:244
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, 3-Methylglutaconic aciduria, Macrovesicular hepatic steatosis, Elevated...	OMIM:618329
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circula...	ORPHA:449395
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inve...	OMIM:602088
Myopathy With Extrapyramidal Signs	Hypervalinemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperactiv...	OMIM:615673
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Fused cervical vertebrae, Optic nerve hypo...	OMIM:609053
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Fucosidosis	Lipoatrophy, Hypothyroidism, Failure to thrive, Hearing impairment, Hyperhidrosis	ORPHA:349
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Galloway-Mowat Syndrome 8	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, ...	OMIM:618349
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ...	ORPHA:93314
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Dystonia 28	Hypothyroidism, Precocious puberty	ORPHA:589618
Avian Influenza	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Elevated circulatin...	ORPHA:454836
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Pancreatitis, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia	OMIM:145980
Gracile Bone Dysplasia	Hypocalcemia, Ascites, Asplenia, Hypoplastic spleen, Micropenis	OMIM:602361
Nephrotic Syndrome, Type 22	Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Nephrotic syndrome, Microscop...	OMIM:619155
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility, Abnormality of the menstrual cycle	OMIM:619009
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n...	OMIM:612924
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Protruding ear, Sensorineural hearing impairment, Hypothyroidism, Joint hypermobility...	ORPHA:2479
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Short tibia, Talipes equinovarus	OMIM:620306
Abetalipoproteinemia	Steatorrhea, Decreased HDL cholesterol concentration, Cirrhosis, Hepatomegaly, Anemia, Hypotrigly...	ORPHA:14
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Abscess, Splenomegaly, Intermittent thrombocytopenia, Abnorma...	OMIM:150550
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Progressive neurologic ...	OMIM:252920
B4Galt1-Cdg	Hypothyroidism, Low-set ears, Small for gestational age	ORPHA:79332
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia	OMIM:165590
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration	OMIM:615361
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Elevated circulating creatinine concentration, Stage 3 chronic kidney disease, Anemia	OMIM:620366
Generalized Pustular Psoriasis	Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ...	ORPHA:247353
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Limited elbow extension, Low-set ears, Camptodactyly, Hypothyroidism, Hashimoto thyroiditis, Post...	OMIM:613385
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu...	OMIM:616651
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephrotic syndrome, B...	ORPHA:505248
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenop...	ORPHA:797
Nephronophthisis-Like Nephropathy 2	Polydipsia, Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kidney disea...	OMIM:619468
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Hypothyroidism, Hypohidrosis	ORPHA:1882
Wolfram Syndrome 1	Optic atrophy, Diabetes insipidus, Sensorineural hearing impairment, Hypothyroidism, Hearing impa...	OMIM:222300
Subcorneal Pustular Dermatosis	Hypothyroidism, Rheumatoid arthritis, Hyperthyroidism	ORPHA:48377
Hyperprolactinemia	Oligomenorrhea, Menorrhagia, Female infertility	OMIM:615555
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Anemia, Cervical lymphadenopathy, Inguinal...	OMIM:620514
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
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Hypotonia-Cystinuria Syndrome	Neonatal hypoglycemia, Hypocalcemia, Nephrolithiasis, Polyphagia, Hypergonadotropic hypogonadism,...	OMIM:606407
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Finger joint contracture, Symphalangism of the thumb, Increased femoral anteversion, Metatarsus a...	OMIM:620494
Autosomal Dominant Optic Atrophy, Classic Form	Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Hypothyroidism, Hypo...	ORPHA:98673
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl...	ORPHA:3320
Bile Acid Synthesis Defect, Congenital, 1	Steatorrhea, Intrahepatic cholestasis, Cirrhosis, Jaundice, Hepatomegaly, Giant cell hepatitis, E...	OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration, Hepatomeg...	OMIM:602347
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud...	ORPHA:1215
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen...	OMIM:610377
Smith-Magenis Syndrome	Delayed puberty, Chronic otitis media, Joint stiffness, Precocious puberty, Hypothyroidism, Condu...	ORPHA:819
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Small Cell Carcinoma Of The Bladder	Hematuria, Dysuria, Hypercalcemia	ORPHA:284400
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Ppoma	Anorexia, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Abnor...	ORPHA:97278
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Laron Syndrome	Hypoglycemia, Hypercholesterolemia, Hypoplasia of penis	ORPHA:633
Chromosome 2Q37 Deletion Syndrome	Hypothyroidism, Sensorineural hearing impairment, Obesity	OMIM:600430
Sheehan Syndrome	Sensorineural hearing impairment, Vertigo, Dyspareunia, Impotence, Decreased circulating cortisol...	ORPHA:91355
Whipple Disease	Myocarditis, Polydipsia, Anorexia, Hepatomegaly, Mediastinal lymphadenopathy, Anemia, Erectile dy...	ORPHA:3452
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Decreased circulat...	OMIM:616959
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Congenital megaureter, Hypercalciuria, Restrictive cardiomyopathy, Renal cy...	ORPHA:369837
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Cogniti...	ORPHA:846
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete...	OMIM:604367
Optic Atrophy 8	Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,...	OMIM:616648
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Arthrogryposis, Distal, Type 2A	Flexion contracture of toe, Spina bifida occulta, Hernia, Shoulder flexion contracture, Inguinal ...	OMIM:193700
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Secondary amenorrhea, Hypertrophic cardiomyopat...	ORPHA:2348
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Neph...	OMIM:618935
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Hypercholesterolemia	ORPHA:254531
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati...	ORPHA:2232
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly	OMIM:609981
Hyperthyroidism, Familial Gestational	Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroidism	OMIM:603373
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Confusion, Leukoc...	ORPHA:3392
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Srd5A3-Cdg	Hypothyroidism, Decreased response to growth hormone stimulation test, Optic atrophy	ORPHA:324737
Kawasaki Disease	Myocarditis, Irritability, Cervical lymphadenopathy, Jaundice, Elevated circulating C-reactive pr...	ORPHA:2331
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Premature pubarche, Small pituitary gland, Infertility, Increased body weight, Osteop...	ORPHA:398069
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Adiposis Dolorosa	Hypothyroidism, Arthritis, Obesity, Xerostomia	ORPHA:36397
Isolated Atp Synthase Deficiency	Hypothyroidism, Sensorineural hearing impairment, Optic atrophy, Hypogonadism	ORPHA:254913
Neurodevelopmental Disorder With Language Delay And Seizures	Hypothyroidism, Hypothalamic hamartoma, Cryptorchidism	OMIM:619908
Stüve-Wiedemann Syndrome	Osteopenia, Abnormal cortical bone morphology, Recurrent fractures, Elbow flexion contracture, Li...	ORPHA:3206
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Recurrent otitis media, Hypothyroidism, Macrotia, Hyperthyroidism, Joint hypermobility, Diabetes ...	ORPHA:449291
Congenital Rubella Syndrome	Atrial septal defect, Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Type I diab...	ORPHA:290
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Tyrosinemia, Type I	Enlarged kidney, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, Ascit...	OMIM:276700
Lig4 Syndrome	Hypothyroidism, Failure to thrive, Type II diabetes mellitus, Amenorrhea, Cryptorchidism, Small f...	OMIM:606593
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transam...	OMIM:617591
Familial Glucocorticoid Deficiency	Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Congenital hypothyroidis...	ORPHA:361
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch...	ORPHA:209902
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
C3 Glomerulopathy	Acute kidney injury, Hematuria, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Membrano...	ORPHA:329918
Autoimmune Hypoparathyroidism	Irritability, Hypocalcemic seizures, Hypocalcemia, Depression, Confusion, Calcium nephrolithiasis...	ORPHA:36913
Cowden Syndrome 7	Ductal carcinoma in situ, Goiter, Papillary thyroid carcinoma, Hashimoto thyroiditis	OMIM:616858
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Sickle Cell Disease	Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells...	OMIM:603903
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Anemia, Retrograde ejaculation, Hypoglycemia, Increased blood urea nitrogen, El...	ORPHA:230
Celiac Disease, Susceptibility To, 1	Steatorrhea, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Mac...	OMIM:212750
Ring Chromosome 12 Syndrome	Breast hypoplasia, Microtia, Low-set ears, Hypothyroidism, Symphalangism of the thumb, Cryptorchi...	ORPHA:1439
4H Leukodystrophy	Delayed puberty, Optic atrophy, Decreased response to growth hormone stimulation test, Abnormalit...	ORPHA:289494
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia	OMIM:156400
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Hyponatremia, Renal hypoplasia, Nep...	OMIM:617913
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia, Dilated card...	OMIM:620152
Neuroleptic Malignant Syndrome	Hyperkalemia, Acute kidney injury, Agitation, Urinary incontinence, Elevated circulating hepatic ...	ORPHA:94093
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Reduced haptoglobin level, Decreased erythrocyte fructose-1,6-bispho...	OMIM:611881
Multiple Endocrine Neoplasia Type 4	Increased glucagon level, Increased urinary cortisol level, Abnormality of pancreas physiology, I...	ORPHA:276152
Roifman Syndrome	Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eosinophilia, Hypogonadotropic...	ORPHA:353298
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Osteopenia, Sensorineural hearing...	OMIM:610199
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle	ORPHA:721
Timothy Syndrome	Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Hypoglycemia, Ventricular ...	OMIM:601005
Seckel Syndrome 7	Central hypothyroidism, Microtia, Primary amenorrhea	OMIM:614851
Glucose-Galactose Malabsorption	Hematuria, Nephrolithiasis, Hypernatremia, Hypercalcemia, Renal insufficiency	ORPHA:35710
Familial Adenomatous Polyposis	Pancreatitis, Lipoma, Thyroiditis, Neoplasm of the adrenal gland, Papillary thyroid carcinoma, Hy...	ORPHA:733
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, Ventricular septal defect, Focal segmental glomerulosclerosis,...	OMIM:618348
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Hepatitis, Thrombocytopenia, Co...	OMIM:304790
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Agitation, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concent...	OMIM:615688
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Sensorineural hearing impairment, Hypothyroidism, Failure to thrive, Congenital sensorineural hea...	OMIM:619147
Autosomal Recessive Spastic Paraplegia Type 44	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok...	ORPHA:320401
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Classic Hodgkin Lymphoma	Anorexia, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly	ORPHA:391
Maternal Uniparental Disomy Of Chromosome 2	Decreased response to growth hormone stimulation test, Premature ovarian insufficiency, Bilateral...	ORPHA:96179
Kikuchi-Fujimoto Disease	Myocarditis, Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive pro...	ORPHA:50918
Hypoparathyroidism, Familial Isolated, 1	Irritability, Hypocalcemic seizures, Hypocalcemia, Nephrocalcinosis, Hyperphosphatemia	OMIM:146200
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypothyroidism, Hearing impairment, Posteriorly rotated ears, Low-set ears	OMIM:617763
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly	ORPHA:1046
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Caroli Disease	Anorexia, Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegal...	ORPHA:53035
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Cirrhosis, Elevated circulating hepatic transaminase concentration, Increased serum bile acid con...	OMIM:242150
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Impaired glucose tolerance, Biliary trac...	OMIM:137920
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Hepatomegaly, Cholestasis, Impaired glucose tolerance, Ventricular septal defec...	OMIM:615630
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thromb...	OMIM:618048
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Pancreatitis, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocal...	ORPHA:99880
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, Synostosis of carpal bones, Synostosis of joints, Hypothyroidi...	ORPHA:3258
Monosomy 18P	Hypothyroidism, Macrotia, Protruding ear, Abnormal antihelix morphology	ORPHA:1598
Acetazolamide-Responsive Myotonia	Hypothyroidism	ORPHA:99736
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc...	OMIM:246700
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Fragile X Tremor/Ataxia Syndrome	Hypothyroidism, Hearing impairment, Premature ovarian insufficiency, Impotence	OMIM:300623
Atelosteogenesis, Type Iii	Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker...	OMIM:108721
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena...	OMIM:614576
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Dysphagia	ORPHA:77260
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, H...	OMIM:617156
Stiff Person Spectrum Disorder	Hypothyroidism, Hyperhidrosis, Diabetes mellitus	ORPHA:3198
Parathyroid Carcinoma	Polydipsia, Pancreatitis, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocal...	ORPHA:143
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypothyroidism, Failure to thrive, Joint contracture, Osteopenia	OMIM:618005
Fibronectin Glomerulopathy	Nephrotic syndrome, Microscopic hematuria, Proteinuria, Hypoalbuminemia, Renal insufficiency	ORPHA:84090
Igg4-Related Retroperitoneal Fibrosis	Anorexia, Acute kidney injury, Renal tubular epithelial necrosis, Normocytic anemia, Hematuria, R...	ORPHA:49041
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Nephrotic ...	OMIM:612783
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr...	ORPHA:276621
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior	ORPHA:208441
Allan-Herndon-Dudley Syndrome	Abnormality of thyroid physiology, Decreased body mass index, Flexion contracture, Failure to thr...	ORPHA:59
Mosaic Variegated Aneuploidy Syndrome 2	Decreased response to growth hormone stimulation test, Low-set ears, Round ear, Hypothyroidism, H...	OMIM:614114
Temple Syndrome	Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia	OMIM:616222
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
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Hyperuric...	OMIM:174000
9Q31.1Q31.3 Microdeletion Syndrome	Renovascular hypertension, Type II diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopat...	ORPHA:401923
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm...	OMIM:610978
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis...	OMIM:179800
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Proteinuria, Splenomegaly, Nephropathy	OMIM:105200
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Methylmalonic acidemia, Pancreatitis, Hepatomegaly, Cardiomyopathy, Hypog...	OMIM:251000
Albers-Schönberg Osteopetrosis	Hypocalcemia, Abnormal leukocyte morphology, Anemia	ORPHA:53
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypothyroidism	ORPHA:2491
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Increas...	ORPHA:412
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Thyroid Ectopia	Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Abnormality of th...	ORPHA:95712
Omodysplasia 1	Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit...	OMIM:258315
Chronic Bilirubin Encephalopathy	Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt...	ORPHA:529799
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Hypothyroidism, Type I diabetes mellitus, Recurrent otitis media	OMIM:620430
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Irritability, Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decr...	OMIM:300539
Orofaciodigital Syndrome Type 2	Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact...	ORPHA:2751
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	OMIM:614196
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Aplasia/Hypoplasia of the scapulae,...	ORPHA:2839
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Delayed puberty, Small pituitary gland, Sensorineural hearing impairment, Primary amenorrhea, Cry...	OMIM:612702
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anemia, Decreased circulating carnitine concentration, Depression, Decreased circulating iron con...	ORPHA:89842
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Caffey Disease	Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones	OMIM:114000
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Sensorineural hearing impairment, Low-set ears, Hypothyroidism, Umbilical hernia, Cryptorchidism	ORPHA:85321
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating hepatic trans...	OMIM:235555
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Hyperparathyroidism, Transient Neonatal	Short long bone, Femoral bowing, Metaphyseal spurs, Fractured rib, Short ribs, Short femur	OMIM:618188
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Low-set, posteriorly rotated ears, Thyroiditis, Camptodactyly, Hypothyroidism, Failure to thrive ...	ORPHA:228426
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Bile Acid Synthesis Defect, Congenital, 3	Steatorrhea, Intrahepatic cholestasis, Jaundice, Cirrhosis, Hepatomegaly, Acholic stools, Hyperbi...	OMIM:613812
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Posteriorly rotated ears, Multinodular goiter, Lipoma	OMIM:620189
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Claw hand deformity, Sensorineural hearing impairment, Abnor...	OMIM:601455
Congenital Disorder Of Glycosylation, Type Iij	Irritability, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, S...	OMIM:613489
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Urinary bladder sphincter dysfunction, Dyspha...	ORPHA:64753
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Ectopic kidney, Hyperactivity, Pleural...	OMIM:235510
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine level, Hypercalcemia, Proteinuria	OMIM:171420
Glycogen Storage Disease Ib	Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, E...	OMIM:232220
Alg12-Cdg	Muscular ventricular septal defect, Elevated circulating hepatic transaminase concentration, Hypo...	ORPHA:79324
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Cogn...	OMIM:616267
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Methylmalonic aciduria, Methylmalonic ...	OMIM:251110
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Glomerular sclerosis, Cardiac amyloidosis, Hyperlipidemia, Hyp...	ORPHA:439232
Craniopharyngioma	Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Optic atrophy, Vertigo, Pi...	ORPHA:54595
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul...	ORPHA:79124
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypocalciuria, Hypomagnesiuria, Reduced rat...	ORPHA:405
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Nephrocalcinosis, Hypercalcemia, Hype...	OMIM:211900
Microphthalmia With Limb Anomalies	Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ...	OMIM:206920
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b...	OMIM:612736
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Congenital Erythropoietic Porphyria	Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Increased urinary ...	ORPHA:79277
Orotic Aciduria	Oroticaciduria, Hematuria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Genetic Recurrent Myoglobinuria	Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Elevated circulating hepatic t...	ORPHA:99845
Q Fever	Myocarditis, Anorexia, Hepatomegaly, Hematuria, Anemia, Lymphadenopathy, Elevated circulating hep...	ORPHA:781
Gangliocytoma	Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level...	ORPHA:251937
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosi...	ORPHA:904
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Autoinflammation, Immune Dysregulation, And Eosinophilia	Hypothyroidism, Failure to thrive	OMIM:618999
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre...	OMIM:229070
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polydipsia, Polyuria, Nephrolithiasis, Hypercalcemia, Hyperphosphatemia	OMIM:617994
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hepatomegaly, Ac...	OMIM:151660
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Pa...	OMIM:606003
Hennekam Syndrome	Ectopic kidney, Lymphadenopathy, Hypocalcemia, Ascites, Pericardial effusion, Lymphangioma, Splen...	ORPHA:2136
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Thrombo...	OMIM:254900
Giant Axonal Neuropathy	Joint hypermobility, Facial palsy, Abnormal pituitary gland morphology	ORPHA:643
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hyperphosphaturia, Hypophosphatemia	ORPHA:89937
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Brucellosis	Granuloma, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Anorexia, Depression, Thrombocyto...	ORPHA:1304
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Hypocalcemia, Autosomal Dominant 1	Decreased glomerular filtration rate, Hypokalemia, Hypocalcemia, Hypercalciuria, Nephrolithiasis,...	OMIM:601198
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hyp...	OMIM:618641
Mody	Neonatal hypoglycemia, Hepatocellular adenoma, Abnormal circulating C-peptide concentration, Hypo...	ORPHA:552
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent otitis media, Thyroiditis, Arthritis, Hypothyroidism, Failure to thrive, Type I diabete...	OMIM:614700
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes...	OMIM:610725
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Dysphagia	ORPHA:50251
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Decreased fertility, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased f...	OMIM:269700
Senior-Loken Syndrome 1	Polydipsia, Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Impaired renal conce...	OMIM:266900
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Mitochondrial Trifunctional Protein Deficiency	Hypoketotic hypoglycemia, Hypocalcemia, Cholestasis, Cardiomyopathy, Chronic hepatic failure, Lef...	ORPHA:746
Double Outlet Right Ventricle	Hypocalcemia, Truncus arteriosus, Pulmonic stenosis, Tetralogy of Fallot, Aplasia/Hypoplasia of t...	ORPHA:3426
Autosomal Dominant Dopa-Responsive Dystonia	Hypothyroidism, Hearing impairment, Progressive flexion contractures, Rheumatoid arthritis	ORPHA:98808
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Ascites, Biliary...	OMIM:619534
Thyroid Hypoplasia	Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Pseudohypoparathyroidism Type 1B	Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l...	ORPHA:94089
Czech Dysplasia	Short metatarsal, Flat capital femoral epiphysis, Narrow iliac wing, Short metacarpal, Coxa vara,...	OMIM:609162
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Increased total iron binding capacity, Jaundice, Hepatomegaly, Elevated circulating hepatic trans...	ORPHA:309854
Acute Promyelocytic Leukemia	Anorexia, Hematuria, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Addictive alcohol use, ...	ORPHA:520
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating hepatic transa...	OMIM:620138
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr...	OMIM:300835
Fibrous Dysplasia Of Bone	Rickets, Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, T...	ORPHA:249
Hypophosphatemic Rickets, X-Linked Dominant	Genu valgum, Fibular bowing, Cupped metaphyses of hand bones, Tibial bowing, Femoral bowing, Abno...	OMIM:307800
H Syndrome	Hypertriglyceridemia, Enlarged kidney, Lymphadenopathy, Azoospermia, Hepatosplenomegaly, Micropen...	ORPHA:168569
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Nephronophthisis 19	Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Splenomeg...	OMIM:616217
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Immunodeficiency 82 With Systemic Inflammation	Anorexia, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymph...	OMIM:619381
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating prealbumin concentration, Chylous ascites, Secondary hyperaldost...	ORPHA:90363
Prolactin Deficiency, Isolated	Infertility, Irregular menstruation, Reduced circulating prolactin concentration	OMIM:264110
Multifocal Atrial Tachycardia	Hypothyroidism, Cryptorchidism	ORPHA:3282
Colchicine Poisoning	Myocarditis, Hypokalemia, Hypocalcemia, Oliguria, Leukocytosis, Hyponatremia, Hypomagnesemia, Hyp...	ORPHA:31824
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Hepatomegaly, Lymphadenopathy, Azoospermia, Retroperitoneal fibrosis, Pancr...	OMIM:602782
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascites, Pericardial e...	ORPHA:36412
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypersegmentation of neutrophil nuclei, Meg...	OMIM:617780
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Insulinoma, Hypercalcemia, Hypoglycemia, Increased circulating cor...	OMIM:131100
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Increased body weight, Pituitary growth hormo...	ORPHA:1359
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Cholestasis, Ascites, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatos...	OMIM:619573
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Increased bone mineral density, Ectopic anterior pituitary gland, Coarse metaphyseal trabeculariz...	OMIM:620558
Pyknoachondrogenesis	Short iliac bones, Abnormal iliac wing morphology, Short long bone, Short ribs, Aplastic pubic bo...	ORPHA:3003
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, 11 pairs of ribs, Talipes equinovarus, Hypoplastic acetabulae, S...	OMIM:134780
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Cognitive impairment, Type II diabetes m...	ORPHA:100
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Tooth absce...	ORPHA:2686
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Farber Lipogranulomatosis	Irritability, Lipogranulomatosis, Hepatomegaly, Splenomegaly	OMIM:228000
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly, Hypophosphatemia, Abnormal pul...	ORPHA:667
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr...	ORPHA:29072
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Osteoporosis, Hearing impairment, Failure to thrive, Type I diabetes mellitus	OMIM:560000
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Hypotrigly...	OMIM:618885
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A...	OMIM:620303
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia, Hepatomegaly, Acute pancreatitis, Hyperglycemia, Insulin-resistant diabetes...	OMIM:608600
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko...	ORPHA:83313
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Atrial septal de...	ORPHA:84064
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Increased bone mineral density, Sensorineural hearing impairme...	OMIM:241520
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Sensorineural hearing impairment, Pancreatic fibrosis, Hypothyroidism, Failure t...	OMIM:616263
Bartter Syndrome, Type 1, Antenatal	Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, Renal potass...	OMIM:601678
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration...	OMIM:614723
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone...	ORPHA:3035
Alexander Disease	Osteopenia, Facial palsy, Abnormal autonomic nervous system physiology, Hypothyroidism, Precociou...	ORPHA:58
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho...	OMIM:300755
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Post...	OMIM:263520
Alagille Syndrome 1	Hypertriglyceridemia, Atrial septal defect, Cirrhosis, Elevated circulating hepatic transaminase ...	OMIM:118450
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina...	OMIM:610717
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Monosomy 18Q	Sensorineural hearing impairment, Bilateral conductive hearing impairment, Bilateral cryptorchidi...	ORPHA:1600
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Anemia, Renal tubular acidosis, Hypocalcemia, Pancytopenia, Elevated circulating cr...	ORPHA:2785
Pancreatic insufficiency, combined exocrine	Hypoproteinemia, Exocrine pancreatic insufficiency	OMIM:260450
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia, Renal phosphate wasting	OMIM:612089
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd...	OMIM:249100
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperinsulinemia, Hepatomegaly, Hyperlipidemia, Impaired glucose tolerance, Hyperglyc...	OMIM:248370
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Tibial b...	ORPHA:96334
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Distal Xq28 Microduplication Syndrome	Hypothyroidism, Absent antihelix, Microtia	ORPHA:293939
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Hypocalcemic seizures, Hypocalcemia, Hypercalciuria, Hypomagnesemia, Hyperphosp...	ORPHA:2239
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Acute kidney injury, Agitation, Hematuria, Decreased glomerular filtration rate, Ac...	ORPHA:340
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Microtia, Adrenal hypoplasia, Panhypopitui...	OMIM:146510
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi...	OMIM:612714
Graft Versus Host Disease	Irritability, Jaundice, Elevated circulating hepatic transaminase concentration, Hemophagocytosis...	ORPHA:39812
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o...	ORPHA:85165
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Hyperlipidemia, Elevated circulating creatine...	ORPHA:565612
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Absent antihelix, Inguinal hernia, Osteoporosis, Bilateral cryptorchidism, Central hypothyroidism...	OMIM:300998
Gitelman Syndrome	Polydipsia, Urinary incontinence, Neoplasm of the pancreas, Renal potassium wasting, Nocturia, Ty...	ORPHA:358
Jung Syndrome	Hypothyroidism	ORPHA:2321
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia,...	ORPHA:542323
Koolen-De Vries Syndrome	Protruding ear, Abnormal dental enamel morphology, Hypothyroidism, Joint hypermobility, Cryptorch...	ORPHA:96169
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Williams-Beuren Syndrome	Pulmonic stenosis, Nephrocalcinosis, Mitral valve prolapse, Urethral stenosis, Bicuspid aortic va...	OMIM:194050
Mohr-Tranebjaerg Syndrome	Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp...	ORPHA:52368
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic left atrium, Pelvic kidney, Truncus arteriosus, Pulmonic steno...	OMIM:601186
Zollinger-Ellison Syndrome	Jaundice, Increased glucagon level, Hypercalcemia, Increased urinary cortisol level, Extrahepatic...	ORPHA:913
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ...	OMIM:615605
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Genu valgum	OMIM:617798
Tbck-Related Intellectual Disability Syndrome	Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Osteopor...	ORPHA:488632
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, T...	ORPHA:99812
Mandibuloacral Dysplasia	Hypertriglyceridemia, Hyperinsulinemia, Insulin resistance, Increased circulating free fatty acid...	ORPHA:2457
Growth Hormone Deficiency, Isolated Partial	Decreased response to growth hormone stimulation test, Small pituitary gland	OMIM:615925
Spinal Cord Injury	Urinary retention, Hypercalcemia, Urinary bladder sphincter dysfunction	ORPHA:90058
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Irritability, Hepatomegaly, Emotional lability, Splenomegaly, Hypogonadism, Decreased serum zinc	OMIM:201100
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Or...	ORPHA:31150
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:331206
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Acute Monoblastic/Monocytic Leukemia	Central hypothyroidism, Progressive hearing impairment, Weight loss	ORPHA:514
Rabson-Mendenhall Syndrome	Increased serum testosterone level, Hypothyroidism, Precocious puberty, Macrotia, Reduced subcuta...	ORPHA:769
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
Catel-Manzke Syndrome	Genu valgum, Clinodactyly of the 5th finger, Short metacarpal, Camptodactyly, Ulnar deviation of ...	OMIM:616145
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Short humerus, Hip...	OMIM:210710
Intrahepatic Cholestasis Of Pregnancy	Hypothyroidism, Abnormal pineal melatonin secretion, Small for gestational age	ORPHA:69665
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Ascites, Cognitive impairment, Nephrotic syndrome, Pericardial effusi...	ORPHA:93552
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Low-set ears, Hypothyroidism, Hypohidrosis, C...	ORPHA:1812
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia, Anemia	OMIM:244460
Prader-Willi Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Infertility, Pol...	OMIM:176270
Juvenile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Polydipsia, Hypokalemia, Renal phosphate wasting, Hypocalcemia,...	ORPHA:411634
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate	OMIM:242530
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia...	ORPHA:809
Neuroblastoma	Irritability, Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Anemi...	ORPHA:635
Cartilage-Hair Hypoplasia	Hepatomegaly, Anemia, Hypocalcemia, Abnormal cardiac septum morphology, Cardiomyopathy, Cognitive...	ORPHA:175
Methimazole Embryofetopathy	Hypothyroidism, Abnormality of the thyroid gland	ORPHA:1923
Pseudohypoparathyroidism Type 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94090
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Dysphagia, Heparan sulf...	OMIM:252930
Ohdo Syndrome, Sbbys Variant	Low-set ears, Hypothyroidism, Hearing impairment, Posteriorly rotated ears, Cryptorchidism	OMIM:603736
Bardet-Biedl Syndrome 20	Pancreatitis, Elevated circulating hepatic transaminase concentration, Proteinuria, Micropenis, A...	OMIM:619471
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, Hypercholesterolemia	ORPHA:96184
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Aa Amyloidosis	Hypothyroidism, Adrenal insufficiency	ORPHA:85445
Combined Oxidative Phosphorylation Deficiency 33	Hypothyroidism, Sensorineural hearing impairment, EEG with burst suppression	OMIM:617713
Martin-Probst Syndrome	Sensorineural hearing impairment, Hypoplastic nipples, Low-set ears, Hypothyroidism, Chordee, Umb...	OMIM:300519
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia, Glomerulonephritis	OMIM:247800
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Primary hypothyroidism	OMIM:225050
Dahlberg-Borer-Newcomer Syndrome	Hypothyroidism, Hypoparathyroidism, Hypohidrosis	ORPHA:1563
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Abnormal helix morphology, Abnormal autonomic nervous system physiology, Hypothyroidi...	ORPHA:453499
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Hydronephrosis, Thrombocytopenia, Absent g...	ORPHA:163979
Oligomeganephronia	Polydipsia, Decreased glomerular filtration rate, Unilateral renal agenesis, Abnormal medullary p...	ORPHA:2260
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Generalized aminoaciduria, Renal tubula...	ORPHA:2088
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal adipose tissue morphology, Bone cyst, Abnormal bone structure, Coarse metaphyseal trabec...	ORPHA:93160
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentrat...	OMIM:613658
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased fertility in females, ...	OMIM:608594
Familial Multinodular Goiter	Thyroid carcinoma, Ovarian neoplasm, Testicular seminoma, Multinodular goiter, Sertoli cell neoplasm	ORPHA:276399
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Beta-Ketothiolase Deficiency	Anorexia, Agitation, Hepatomegaly, Hyperuricemia, Leukocytosis, Hyperammonemia, Hyperglycemia, Hy...	ORPHA:134
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Immunodeficiency 31C	Delayed puberty, Osteopenia, Hypothyroidism, Weight loss, Diabetes mellitus, Osteomyelitis	OMIM:614162
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Immunodeficiency 102	Hypothyroidism	OMIM:301082
Trichohepatoneurodevelopmental Syndrome	Recurrent otitis media, Cholelithiasis, Hypoplastic nipples, Low-set ears, Recurrent pancreatitis...	OMIM:618268
Mogs-Cdg	Optic atrophy, Sensorineural hearing impairment, Inappropriate antidiuretic hormone secretion, Ab...	ORPHA:79330
Neuhauser Syndrome	Primary hypothyroidism, Cupped ear, Large fleshy ears, Osteopenia	OMIM:249310
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto...	ORPHA:139402
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperprostaglandinuria, Hypocalcemia, Hypercalciuria, Abnormal renal tubular resorption, Hypermag...	ORPHA:73224
Cockayne Syndrome Type 1	Optic atrophy, Scarring, Foot joint contracture, Absent brainstem auditory responses, Cryptorchid...	ORPHA:90321
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Sensorineural hearing impairment, Cryptorchidism, Hypothyroidism, Diabetes melli...	OMIM:616541
Waldenström Macroglobulinemia	Anorexia, Normocytic anemia, Hepatomegaly, Lymphadenopathy, Memory impairment, Splenomegaly, Abno...	ORPHA:33226
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Secondary Short Bowel Syndrome	Aganglionic megacolon, Primary hypothyroidism, Central hypothyroidism, Failure to thrive, Weight ...	ORPHA:95427
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Sotos Syndrome	Decreased fertility, Neonatal hypoglycemia, Ureteral duplication, Hypospadias, Phimosis, Vesicour...	ORPHA:821
Scrub Typhus	Myocarditis, Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Hyperactivity, Splenomegaly, Hypocholesterolemia, Hepatic steatosis, A...	OMIM:270400
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Steinert Myotonic Dystrophy	Elevated circulating hepatic transaminase concentration, Impotence, Cognitive impairment, Aggress...	ORPHA:273
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive pr...	OMIM:617099
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Lipoma, Hearing impairment, Hyperthyroidism, Primary amenorrhea, Increased circulating prolactin ...	ORPHA:502423
Lysinuric Protein Intolerance	Hepatomegaly, Oroticaciduria, Pancreatitis, Hemophagocytosis, Anemia, Intraalveolar phospholipid ...	OMIM:222700
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Irritability, Hypocalcemic seizures, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia	OMIM:264700
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Delayed puberty, Type I diabetes mellitus, Hypothyroidism, Exocrine pancreatic insufficiency	OMIM:615952
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Heparan sulfate excreti...	OMIM:252900
Nephrotic Syndrome, Type 8	Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoalbuminemia, Diffuse mesangial scler...	OMIM:615244
Fibrochondrogenesis 1	Narrow greater sciatic notch, Fibular hypoplasia, Clinodactyly of the 5th finger, Rhizomelia, Sho...	OMIM:228520
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Failure to thrive, Delayed brainstem auditory evoked response conduction time, Joi...	OMIM:616881
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Elliptocytosis 3	Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me...	OMIM:617948
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonic ...	OMIM:612541
Cerebrotendinous Xanthomatosis	Osteopenia, Optic atrophy, Decreased nerve conduction velocity, Cholelithiasis, Abnormal auditory...	ORPHA:909
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Polyuria, Hypocalcemia, Ascites, Hyponatremia, Pericardial effusion, Hypoma...	OMIM:618183
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Reduced bone mineral density, Hypophosphatemic rickets, ...	ORPHA:157215
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Coronary artery stenosis, Hypergly...	OMIM:615812
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Arthritis, Abno...	ORPHA:93111
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Saul-Wilson Syndrome	Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared...	OMIM:618150
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Acute kidney injury, Myocarditis, Pancreatitis, Hypocalcemia, Anuria, Nephrotic ran...	ORPHA:544482
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Amenorrhea, Anterior hypopituitarism, Panhypopituitarism, Oligozoosperm...	ORPHA:91351
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Enlarged kidney, Cholestasis, Ascites, Cognitive impairment, Biliary hyperplasia, Spl...	ORPHA:731
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Low-set ears, Congenital hypothyroidism, Failure to thrive, Posteriorly rotated ea...	OMIM:617527
Isolated Biliary Atresia	Severe failure to thrive, Bile duct proliferation, Hypothyroidism, Atretic gallbladder, Failure t...	ORPHA:30391
Cholera	Acute kidney injury, Irritability, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormality of renal ...	ORPHA:173
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer...	OMIM:619518
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a...	ORPHA:958
Transcobalamin Ii Deficiency	Irritability, Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Hyperhomocystinemia,...	OMIM:275350
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent otitis media, Low-set ears, Hypothyroidism, Rheumatoid arthritis, Sclerosis of skull ba...	OMIM:607944
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis...	OMIM:608885
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Neutrophilia, Splenomegaly, ...	OMIM:612852
Aromatase Deficiency	Male infertility, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Ty...	ORPHA:91
Oculocerebrorenal Syndrome Of Lowe	Nephrocalcinosis, Hypophosphatemia, Hyperaldosteronism, Multiple renal cysts, Azoospermia, Depres...	ORPHA:534
Abcd Syndrome	Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis, Abnormal audito...	OMIM:600501
Melas	Optic atrophy, Hypoparathyroidism, EEG abnormality, Sensorineural hearing impairment, Hypothyroid...	ORPHA:550
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ...	OMIM:613986
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Multinodular goiter	OMIM:618373
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ...	ORPHA:103910
Necrotizing Enterocolitis	Abnormal glucose homeostasis, Ascites, Leukocytosis, Hyponatremia, Abnormal heart morphology, Hyp...	ORPHA:391673
Pheochromocytoma	Elevated urinary norepinephrine level, Hypercalcemia, Proteinuria, Renal artery stenosis	OMIM:171300
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa...	OMIM:601596
Congenital Disorder Of Glycosylation, Type Iie	Decreased liver function, Perimembranous ventricular septal defect, Jaundice, Hepatomegaly, Neuro...	OMIM:608779
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Abnormal T cell morphology, Hypouricemia, Decreased proportion of CD...	ORPHA:760
Aicardi-Goutieres Syndrome 7	Irritability, Hepatomegaly, Anemia, Generalized lymphadenopathy, Pancytopenia, Hypertrophic cardi...	OMIM:615846
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Schimke Immuno-Osseous Dysplasia	Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis...	ORPHA:1830
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Male infertility, Increased circulating gonadotropin level, Recurrent otitis med...	ORPHA:1772
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk...	OMIM:615934
Cockayne Syndrome A	Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi...	OMIM:216400
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration	OMIM:603233
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Confusion, Leukocytosis, Neutrophilia, Leu...	ORPHA:36238
Transcobalamin Deficiency	Acute kidney injury, Pancytopenia, Thrombocytopenia, Lymphopenia, Methylmalonic aciduria, Neutrop...	ORPHA:859
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Anorexia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinoph...	ORPHA:169160
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ...	OMIM:220150
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Thyroiditis, Hypothyroidism, Failure to thrive, Aplasia of the thymus	ORPHA:83471
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L...	OMIM:615615
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Ventricular hypertrophy, Mitral valve calcification, Aortic valve stenosis,...	ORPHA:363618
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ...	OMIM:616329
Papillorenal Syndrome	Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst...	OMIM:120330
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Bilateral Polymicrogyria	Abnormal glossopharyngeal nerve morphology, Sensorineural hearing impairment, Facial diplegia, Lo...	ORPHA:268940
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Pericarditi...	ORPHA:32960
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Occipital Horn Syndrome	Abnormal fibula morphology, Humerus varus, Genu valgum, Large iliac wing, Abnormal pubic bone mor...	ORPHA:198
Gaucher Disease	Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Dysphagia, Pancytopenia, Depre...	ORPHA:355
Glycogen Storage Disease Ii	Urinary incontinence, Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circu...	OMIM:232300
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Acute kidney injury, Hyperuricemia, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macr...	ORPHA:79233
Hypomagnesemia 3, Renal	Polydipsia, Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentratio...	OMIM:248250
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci...	OMIM:620481
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
22Q11.2 Deletion Syndrome	Tricuspid atresia, Abnormal aortic valve morphology, Hypospadias, Cholelithiasis, Hypocalcemia, P...	ORPHA:567
Dilated Cardiomyopathy With Ataxia	Hypothyroidism, Optic atrophy, Bilateral sensorineural hearing impairment, Bilateral cryptorchidism	ORPHA:66634
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Reduced ...	OMIM:618858
Sepsis In Premature Infants	Decreased liver function, Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein...	ORPHA:90051
Cystinosis, Nephropathic	Polydipsia, Generalized aminoaciduria, Renal Fanconi syndrome, Hypophosphatemia, Splenomegaly, Dy...	OMIM:219800
Autosomal Dominant Hypocalcemia	Fatigable weakness, Hypocalcemia, Hypercalciuria, Depression, Emotional lability, Hypermagnesiuri...	ORPHA:428
Prolidase Deficiency	Hepatomegaly, Anemia, Hyperimidodipeptiduria, Prolonged neonatal jaundice, Thrombocytopenia, Sple...	OMIM:170100
Structural Heart Defects And Renal Anomalies Syndrome	Atrial septal defect, Tricuspid atresia, Truncus arteriosus, Renal cyst, Tetralogy of Fallot, Par...	OMIM:617478
Cockayne Syndrome B	Optic atrophy, Decreased nerve conduction velocity, Severe failure to thrive, Sensorineural heari...	OMIM:133540
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Elevated circula...	ORPHA:100093
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Macrocephaly/Autism Syndrome	Hepatomegaly, Short attention span, Splenomegaly, Lymphopenia, Penile freckling	OMIM:605309
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos...	ORPHA:293173
Rothmund-Thomson Syndrome Type 1	Finger symphalangism, Osteopenia, Premature ovarian insufficiency, Abnormal dental enamel morphol...	ORPHA:221008
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia, Neutrophilia, ...	ORPHA:1930
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Aplasi...	ORPHA:2879
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Myocardial eosinophilic...	ORPHA:3260
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Optic nerve compression, Thyroiditi...	ORPHA:79078
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Emotional lability, Increased blood urea nitrogen, Abnormal renal physiolog...	OMIM:223900
Premature Ovarian Failure 22	Secondary amenorrhea, Premature ovarian insufficiency, Female infertility	OMIM:620548
Cryoglobulinemic Vasculitis	Hepatomegaly, Hematuria, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Proteinuria,...	ORPHA:91138
Crimean-Congo Hemorrhagic Fever	Ascites, Leukopenia, Splenomegaly, Cholecystitis, Myocarditis, Anorexia, Agitation, Jaundice, Pan...	ORPHA:99827
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Meningioma	Impotence, Decreased circulating cortisol level, Abnormal hypothalamus physiology, Focal T2 hypoi...	ORPHA:2495
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Increased ...	OMIM:620376
Familial Pancreatic Carcinoma	Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Per...	ORPHA:1333
Pseudohypoparathyroidism Type 1C	Irritability, Calcinosis, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administr...	ORPHA:79444
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Irritability, Agitation, Hyperactivity, Partial atrioventricular canal ...	OMIM:620423
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Intellectual Developmental Disorder, Autosomal Dominant 42	Limited elbow extension, EEG with temporal sharp slow waves, Hypsarrhythmia, Sensorineural hearin...	OMIM:616973
Xfe Progeroid Syndrome	Premature ovarian insufficiency, Elevated circulating hepatic transaminase concentration, Ascites...	OMIM:610965
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Elevated circulating hepatic transaminase c...	OMIM:613327
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:93324
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Galloway-Mowat Syndrome 10	Congenital hypothyroidism	OMIM:619609
Yellow Fever	Acute kidney injury, Jaundice, Hyperbilirubinemia, Anuria, Acute pancreatitis, Elevated circulati...	ORPHA:99829
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, Recurrent frac...	OMIM:613388
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Second...	ORPHA:280365
Renal Tubular Acidosis, Proximal	Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis	OMIM:179830
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia,...	OMIM:277460
Omodysplasia 2	Fibular hypoplasia, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelic arm shorte...	OMIM:164745
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Complex organic aciduria, T...	OMIM:557000
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Talipes, Short femur, Micrognathi...	OMIM:300990
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Niemann-Pick Disease, Type C1	Hepatomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Reduced C-pe...	OMIM:606176
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Optic nerve compression, Anterior hypopituitarism, Diabetes insipidus, ...	ORPHA:91350
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Increased blood urea nitrogen, Ureteropelvic junction obstruction...	OMIM:154230
Lymphatic Malformation 6	Abnormal pinna morphology, Hypothyroidism, Hearing impairment, Hydrocele testis, Cellulitis, Cupp...	OMIM:616843
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia...	OMIM:603671
Pseudoxanthoma Elasticum	Hypothyroidism, Joint hypermobility, Multiple lipomas	ORPHA:758
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Cholelithiasis, Hypocalcemia, Truncus arteriosus, Hypoplasia o...	OMIM:188400
Autoimmune Polyendocrine Syndrome, Type Ii	Hypothyroidism, Primary adrenal insufficiency, Exocrine pancreatic insufficiency, Type II diabete...	OMIM:269200
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Depression, Ascites, Leukocytosis, Nephrotic syndrome, Pericarditi...	ORPHA:342
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia	OMIM:618618
Diabetes Mellitus, Transient Neonatal, 3	Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, ...	OMIM:610582
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular...	ORPHA:3144
Treacher-Collins Syndrome	Abnormality of the adrenal glands, Abnormality of bone mineral density, Microtia, Abnormal dental...	ORPHA:861
White-Kernohan Syndrome	Recurrent otitis media, Low-set ears, Hypothyroidism, Macrotia, Obesity, Simple ear, Joint hyperm...	OMIM:619426
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Koolen-De Vries Syndrome Due To A Point Mutation	Optic atrophy, Decreased response to growth hormone stimulation test, Recurrent otitis media, Pro...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Optic atrophy, Decreased response to growth hormone stimulation test, Recurrent otitis media, Pro...	ORPHA:363958
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Premature pubarche, Sensorineural hearing impairment, Premature thelarche, Hypothy...	OMIM:616878
Spondyloenchondrodysplasia	Hypothyroidism, Arthritis, Decreased response to growth hormone stimulation test, Juvenile rheuma...	ORPHA:1855
Ring Chromosome Y Syndrome	Male infertility, Male hypogonadism, Hypospadias, Streak ovary, Azoospermia, Abnormal spermatogen...	ORPHA:261529
Microform Holoprosencephaly	Hypothyroidism, Maternal diabetes, Panhypopituitarism	ORPHA:280200
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor	OMIM:617523
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen...	ORPHA:1572
Juvenile Polyposis Of Infancy	Anemia, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defect, Refractory anemia	ORPHA:79076
Deafness, Autosomal Dominant 44	Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus, Abnormal vestibular fu...	OMIM:607453
Deafness, Autosomal Dominant 86	Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus, Abnormal vestibular fu...	OMIM:620280
Myopathy, Mitochondrial, And Ataxia	Hearing impairment, Hyperthyroidism, Primary amenorrhea, Increased circulating prolactin concentr...	OMIM:617675
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Irritability, Premature ovarian insufficiency, Hyperactivity, Motor stereotypy, Lymphopenia, Aggr...	ORPHA:391307
Gaucher Disease Type 3	Hepatomegaly, Hematuria, Anemia, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc...	ORPHA:77261
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Congenital Syphilis	Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundi...	ORPHA:499009
Campomelic Dysplasia	Fibular hypoplasia, 11 pairs of ribs, Tibial bowing, Femoral bowing, Short long bone, Bowing of t...	ORPHA:140
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Cousin Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Prominent protruding coccyx, Rhizomelia, Disloca...	OMIM:260660
Mesomelia-Synostoses Syndrome	Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ...	OMIM:600383
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short femur, Short humerus, Tapered finger	OMIM:618367
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Mixed hearing impairment, Microtia, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Bilat...	OMIM:620186
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Hepatosplenomegaly, Splenomegaly, Progressive neurologic deteriora...	OMIM:608013
Reynolds Syndrome	Steatorrhea, Calcinosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concen...	OMIM:613471
Lujo Hemorrhagic Fever	Myocarditis, Elevated circulating hepatic transaminase concentration, Elevated circulating C-reac...	ORPHA:319213
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Bilateral sensorineural hearing impairment, Macrotia, Thyroid hypoplasia, Congenital hypothyroidism	ORPHA:521445
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Vacuolated lymphocytes, Hypertrophic cardiomyopath...	OMIM:230500
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased response to growth hormone stimulation test, Recurrent otitis media, Decreased circulat...	ORPHA:293978
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Pes planus, Clinodactyly of the 5th finger, Talipes, Short hallux, Short midd...	ORPHA:508488
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Short femur, Short humerus	ORPHA:17
Phace Association	Optic atrophy, Optic nerve hypoplasia, Congenital hypothyroidism, Lingual thyroid, Horner syndrome	OMIM:606519
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Splenomegaly, Spherocytosis	ORPHA:66518
Majeed Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Microscopic hematuria, Splenomegaly, P...	ORPHA:77297
Cryptogenic Organizing Pneumonia	Anorexia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:1302
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ...	ORPHA:2388
Joubert Syndrome 38	Decreased response to growth hormone stimulation test, Small pituitary gland, Low-set ears, Poste...	OMIM:619476
Cardiogenic Shock	Oliguria, Elevated circulating creatinine concentration, Confusion, Hepatomegaly	ORPHA:97292
Adult-Onset Autosomal Dominant Leukodystrophy	Erectile dysfunction, Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditor...	ORPHA:99027
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Micropenis	OMIM:241410
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Neonatal hypoglycemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypog...	OMIM:619055
Duplication Of The Pituitary Gland	Abnormality of joint mobility, Decreased body weight, Abnormal pituitary gland morphology, Hearin...	ORPHA:314621
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia, Elevated ...	OMIM:609812
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l...	ORPHA:79443
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis, Cholangitis, Elevated circulating C-reactive protein concentration	OMIM:614204
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Protruding ear, Lambdoidal craniosynostosis, Optic nerve hypoplasia, Sensorineural he...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Protruding ear, Lambdoidal craniosynostosis, Optic nerve hypoplasia, Sensorineural he...	ORPHA:352665
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hypothyroidism, Optic atrophy	OMIM:251900
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Intraalveolar phospholipid accumulation, Leukocytosis	OMIM:618042
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microtia, Low-set ears, Hypothyroidism, Absence of subcutaneous fat, Exocrine pancreatic insuffic...	OMIM:620005
Aicardi-Goutieres Syndrome 1	Hypothyroidism, Diabetes insipidus	OMIM:225750
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe...	OMIM:208500
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Ventilator-Induced Diaphragmatic Dysfunction	Hypothyroidism	ORPHA:505395
Craniofacioskeletal Syndrome	Hypospadias, Hypocalcemia, Hydronephrosis, Absent gallbladder, Atrial septal defect, Ventricular ...	OMIM:300712
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Posterior pituitary hypoplasia, Abnormal pinna morphology, Abnormality of the anterior pituitary	ORPHA:75389
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Alkaptonuria	Prostatitis, Reduced bone mineral density, Hearing abnormality, Black pigment gallstones, Arthrit...	ORPHA:56
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism	ORPHA:99927
Bronchial Neuroendocrine Tumor	Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy, Hepatic failure, Abnormal pulmonar...	ORPHA:97287
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia, Inappropriate laughter, Mental deterioration, Cognitive impairment	OMIM:618476
Johanson-Blizzard Syndrome	Ascites, Urethrovaginal fistula, Splenomegaly, Intrahepatic cholestasis, Hypospadias, Hypocalcemi...	OMIM:243800
Cryoglobulinemia, Familial Mixed	Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c...	OMIM:123550
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating...	OMIM:256040
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
3-Methylglutaconic Aciduria Type 7	Hypothyroidism	ORPHA:445038
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Acute kidney injury, Decreased liver function, Hypocalcemia, Confusion, Elevated ci...	ORPHA:466650
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi...	OMIM:620233
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ...	ORPHA:98813
Pauci-Immune Glomerulonephritis	Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ne...	ORPHA:93126
Gabriele-De Vries Syndrome	Breast hypoplasia, Decreased response to growth hormone stimulation test, Low-set ears, Hypothyro...	ORPHA:506358
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Split hand, Rudimentary to absent tibiae, Missi...	OMIM:200980
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Myasthenia Gravis	Rheumatoid arthritis, Hashimoto thyroiditis, Primary adrenal insufficiency, Hearing impairment, H...	ORPHA:589
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor	OMIM:619260
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Ascites, Focal segmental glomerulosclerosis, M...	ORPHA:567546
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Hypokalemia	OMIM:174900
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Schinzel-Giedion Syndrome	Stiff elbow, Annular pancreas, Aganglionic megacolon, Inguinal hernia, Hypsarrhythmia, Wide anter...	ORPHA:798
Farber Disease	Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Intrahepatic ch...	ORPHA:333
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Anterior hypopituitarism, Adrenal hypoplasia, Low-set ears, Abnormal...	OMIM:607932
Fg Syndrome Type 1	Small pituitary gland, Inguinal hernia, Sensorineural hearing impairment, Limited elbow extension...	ORPHA:93932
Cushing Syndrome Due To Ectopic Acth Secretion	Impaired glucose tolerance, Lymphopenia, Increased circulating cortisol level, Anorexia, Memory i...	ORPHA:99889
Familial Isolated Hypoparathyroidism	Hypocalcemia, Nephropathy	ORPHA:2238
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Mixed hearing impairment, Cervical C2/C3 v...	ORPHA:444077
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Inguinal hernia, Breast aplasia, Abnormali...	ORPHA:268261
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St...	OMIM:612310
Hallermann-Streiff Syndrome	Reduced bone mineral density, Tracheomalacia, Hypothyroidism, Cryptorchidism, Recurrent fractures	ORPHA:2108
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Hypogonadism, Mitral valve prolaps...	ORPHA:251066
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Ventricu...	OMIM:243150
Trisomy 10P	Abnormality of the ear, Small for gestational age, Low voltage EEG, EEG with focal spikes, Abnorm...	ORPHA:171929
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Impulsivity, Dysphagia, Bruxism, Hepatic steatosis, Transposition of the great arter...	OMIM:619503
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Pulmonic stenosis, Hypernatremia, Hypoalbuminemia, Multiple muscular ventricular septal defects	OMIM:615508
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Intellectual Developmental Disorder, X-Linked 98	Central hypothyroidism, Macrotia, Failure to thrive, Hypsarrhythmia	OMIM:300912
Neuroendocrine Tumor Of The Colon	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfec...	ORPHA:100080
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul...	ORPHA:3077
Vici Syndrome	Atrial septal defect, Lymphopenia, Elevated circulating creatine kinase concentration, Cardiomyop...	OMIM:242840
Disabling Pansclerotic Morphea Of Childhood	Neutropenia, Elevated circulating C-reactive protein concentration, Lymphopenia	OMIM:620443
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Hepatomegaly, Hypocalcemia, Stage 1 chronic kidney disease, Hepatic fibros...	OMIM:218330
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Ethylene Glycol Poisoning	Hyperkalemia, Renal tubular epithelial necrosis, Hematuria, Renal tubular dysfunction, Hypocalcem...	ORPHA:31826
Neuroendocrine Tumor Of Stomach	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency ...	ORPHA:100075
Biotinidase Deficiency	Hyperammonemia, Hepatomegaly, Organic aciduria, Splenomegaly	OMIM:253260
Mucopolysaccharidosis Type 6	Mucopolysacchariduria, Abnormal heart valve morphology, Splenomegaly, Cognitive impairment	ORPHA:583
Nephroblastoma	Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Cutis Marmorata Telangiectatica Congenita	Hypothyroidism, Reduced bone mineral density	ORPHA:1556
Ataxia-Telangiectasia	Glucose intolerance, Abnormal spermatogenesis, Hypoplasia of the thymus, T lymphocytopenia, Femal...	OMIM:208900
Premature Ovarian Failure 13	Oligomenorrhea, Amenorrhea, Female infertility	OMIM:617442
Fragile X-Associated Tremor/Ataxia Syndrome	Hypothyroidism, Impotence, Abnormal autonomic nervous system physiology	ORPHA:93256
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Anemia, Hepatic arteriovenous malformation, Hypoproteinemia, Extrahepat...	ORPHA:2929
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Bardet-Biedl Syndrome	Childhood-onset truncal obesity, Aganglionic megacolon, Low-set, posteriorly rotated ears, Abnorm...	ORPHA:110
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Large for gestational age, Abnormal pancreas morphology, Abnorma...	ORPHA:116
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Mosaic Variegated Aneuploidy Syndrome	Hypothyroidism, Hearing impairment, Low-set, posteriorly rotated ears, Osteolysis	ORPHA:1052
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Central diabetes insipidus, Hypergonadotropic hypogonadism, Anterior pituitary dysgen...	ORPHA:227982
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ...	OMIM:242700
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus	ORPHA:1827
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Impaired glucose tolerance, Neph...	OMIM:219090
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Ascites, Lymphadenitis, Granuloma, ...	OMIM:306400
Hereditary Orotic Aciduria	Anemia, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Elevated circulating uroporphyrin concentratio...	OMIM:263700
Infantile Krabbe Disease	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc...	ORPHA:206436
Late-Infantile/Juvenile Krabbe Disease	Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ...	ORPHA:206443
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Ectopic kidne...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Ectopic kidne...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Ectopic kidne...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Ectopic kidne...	ORPHA:881
Aicardi-Goutières Syndrome	Lipoatrophy, Panniculitis, Multiple joint contractures, Arthritis, Low-set ears, Hypothyroidism, ...	ORPHA:51
Coccidioidomycosis	Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, Cognitive impairment, Granuloma, Abno...	ORPHA:228123
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Iron deficiency anemia,...	ORPHA:100078
Velocardiofacial Syndrome	Hypocalcemia, Emotional lability, Tetralogy of Fallot, Ventricular septal defect, Aggressive beha...	OMIM:192430
Microphthalmia, Syndromic 2	Cupped ear, Sensorineural hearing impairment, Contracture of the proximal interphalangeal joint o...	OMIM:300166
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ...	OMIM:610532
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Patent foramen ovale, Secundum atrial septal defect, Lymphopenia, Ne...	OMIM:614868
Tuberous Sclerosis 2	Adenoma sebaceum, Hypothyroidism, Hearing impairment, Precocious puberty, Shagreen patch	OMIM:613254
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia, Anemia	OMIM:127000
Primrose Syndrome	Delayed puberty, Superiorly displaced ears, Reduced bone mineral density, Calcification of the au...	OMIM:259050
Papa Syndrome	Lymphadenopathy, Type I diabetes mellitus, Proteinuria	ORPHA:69126
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Abnormality of thyroid physiology, Unilateral breast hypoplasia, Low-set ears, Hearing impairment...	OMIM:300968
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Hypothyroidism, Macrotia	ORPHA:457212
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, H...	OMIM:124000
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Galloway-Mowat Syndrome 3	Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbuminem...	OMIM:617729
1P36 Deletion Syndrome	Optic atrophy, Annular pancreas, Low-set, posteriorly rotated ears, Sensorineural hearing impairm...	ORPHA:1606
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia, Hypospadias	OMIM:610644
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Polyuria, Impaired glucose tolerance, Dysphagia, Recurrent pancreatitis, In...	OMIM:606721
Wiedemann-Rautenstrauch Syndrome	Long foot, Talipes equinovarus, Slender long bone, Hypoplastic ilia, Short femur, Long fingers, S...	OMIM:264090
Mucopolysaccharidosis Type 2	Abnormal temper tantrums, Hepatomegaly, Abnormal tricuspid valve morphology, Abnormal pulmonary v...	ORPHA:580
Leprechaunism	Hyperinsulinemia, Low-set ears, Decreased body weight, Increased circulating renin level, Central...	ORPHA:508
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Neuroendocrine Tumor Of The Rectum	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfec...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfec...	ORPHA:100082
Tubulointerstitial Nephritis And Uveitis Syndrome	Anorexia, Renal tubular epithelial necrosis, Normocytic anemia, Reduced hematocrit, Decreased glo...	ORPHA:91500
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Enlarged platelet...	OMIM:608233
Interstitial Lung And Liver Disease	Hypothyroidism, Failure to thrive	OMIM:615486
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Cryptorchidism, Supernumerary nipple, Congenital hypothyroidism	ORPHA:2519
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Epiphyseal stippling, Adrenal hypoplasia, Thyroid hypoplasia, Hearing impairment, Flexion contrac...	OMIM:308050
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland, Vertigo, Abnormal pinna morphology, Severe sensorineural hearing impairmen...	OMIM:614195
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnormality of the end...	ORPHA:93924
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Progressive neurologic deterioration, Dysph...	OMIM:230900
Sanjad-Sakati Syndrome	Hypocalcemia, Hyperphosphatemia, Hypoplasia of penis	ORPHA:2323
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Ascite...	OMIM:615710
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Limited elbow extension, Delayed ossification of carpal bones, Laryngotracheomalacia,...	OMIM:271510
Coffin-Siris Syndrome 12	Protruding ear, Sensorineural hearing impairment, Low-set ears, Facial palsy, Prominent antihelix...	OMIM:619325
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Normochromic anemia, Chronic active hepatitis, Depression, Ly...	ORPHA:289390
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Optic atrophy, Sensorineural hearing impairment, Compensated hypothyroidism	ORPHA:480864
Oncogenic Osteomalacia	Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting	ORPHA:352540
Tuberous Sclerosis 1	Adenoma sebaceum, Hypothyroidism, Precocious puberty, Dental enamel pits, Shagreen patch	OMIM:191100
Behçet Disease	Anorexia, Irritability, Pancreatitis, Lymphadenopathy, Memory impairment, Confusion, Pericarditis...	ORPHA:117
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Delayed puberty, Osteopenia, Abnormality of the endocrine system, Primary hypothyroidism, Thyroid...	ORPHA:391487
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Hypothyroidism	OMIM:618569
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:293987
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia	ORPHA:79396
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures, Anemia, Splenomegaly, Hepatomegaly	OMIM:612301
Neurooculorenal Syndrome	Mixed hearing impairment, Decreased circulating ACTH concentration, Sensorineural hearing impairm...	OMIM:620305
Sweet Syndrome	Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein concentration, Chronic ly...	ORPHA:3243
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, EEG abnormality, Erectile dysfunction	ORPHA:206448
Infantile Nephropathic Cystinosis	Rickets, Failure to thrive, Abnormality of thyroid physiology	ORPHA:411629
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract ob...	ORPHA:100085
Pierson Syndrome	Hypoproteinemia, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic ki...	OMIM:609049
Gray Platelet Syndrome	Menorrhagia, Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Campomelic Dysplasia	Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor...	OMIM:114290
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Abnormality of the endocrine system, Osteoporosis, Hypothyroidism, Precocious puberty...	ORPHA:438213
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes...	OMIM:251300
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Menorrhagia, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemo...	OMIM:153670
Charge Syndrome	Atrial septal defect, Hypocalcemia, Self-mutilation, Ventricular septal defect, Dysplastic tricus...	OMIM:214800
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab...	ORPHA:101085
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytopenia, Bone marrow hypocellu...	ORPHA:508542
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Hydrolethalus Syndrome 1	Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of hallux, Micrognathi...	OMIM:236680
Chromosome 1P36 Deletion Syndrome, Distal	Optic atrophy, Hypsarrhythmia, Sensorineural hearing impairment, Microtia, Wide anterior fontanel...	OMIM:607872
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Neonatal insulin-dependent diabetes mellitus, Anterior pituitary...	ORPHA:2255
Down Syndrome	Atrioventricular canal defect, Abnormality of the lymphatic system, Acute megakaryocytic leukemia...	ORPHA:870
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Holoprosencephaly-Postaxial Polydactyly Syndrome	Low-set, posteriorly rotated ears, Adrenal hypoplasia, Thyroid hypoplasia, Abnormality of the hyp...	ORPHA:2166
Polycythemia Vera	Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth...	ORPHA:729
Down Syndrome	Aganglionic megacolon, Microtia, Hypothyroidism, Conductive hearing impairment, Joint hypermobility	OMIM:190685
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Low-molecular-weight proteinuria, Renal insufficiency, Elevated circulating creat...	OMIM:309000
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulati...	OMIM:619525
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentrati...	OMIM:613610
Fusariosis	Lung abscess, Brain abscess, Granuloma, Abnormality of the spleen, Peritonitis, Lymphopenia, Abno...	ORPHA:228119
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Lymphatic Filariasis	Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ...	ORPHA:2035
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hair-pulling, Nail-biting, Hypocalcemia, Emotional lability, Polyphagia, Fixated interests, Hydro...	OMIM:620330
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Type I diabetes mellitus	OMIM:620365
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Peripartum Cardiomyopathy	Abnormality of thyroid physiology, Diabetes mellitus, Obesity	ORPHA:563
African Trypanosomiasis	Myocarditis, Irritability, Urinary incontinence, Jaundice, Lymphadenopathy, Hepatomegaly, Inferti...	ORPHA:3385
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Cushing Disease	Amenorrhea, Memory impairment, Depression, Emotional lability, Decreased eosinophil count, Increa...	ORPHA:96253
Wiedemann-Rautenstrauch Syndrome	2-3 toe syndactyly, Hypoplastic ilia, Short femur, Thin long bone diaphyses, Camptodactyly of fin...	ORPHA:3455
Niemann-Pick Disease Type C	Jaundice, Hepatomegaly, Depression, Low frustration tolerance, Bone-marrow foam cells, Ascites, C...	ORPHA:646
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Phace Syndrome	Hypothyroidism, Optic nerve hypoplasia, Ectopic thyroid	ORPHA:42775
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Central diabetes insipidus, Hypergonadotropic hypogonadism, Anterior pituitary dysgen...	ORPHA:227990
Pallister-Hall Syndrome	Microtia, Hypothalamic hamartoma, Thyroid hypoplasia, Umbilical hernia, Central adrenal insuffici...	ORPHA:672
Townes-Brocks Syndrome 1	Small for gestational age, Sensorineural hearing impairment, Microtia, Hypothyroidism, Satyr ear,...	OMIM:107480
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Mend Syndrome	Wide anterior fontanel, Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Cry...	ORPHA:401973
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Anemia, Patent foramen ovale, Vesicoureteral reflux, Renal cyst, Renal hypo...	OMIM:618460
Ebola Hemorrhagic Fever	Acute pancreatitis, Thrombocytopenia, Leukopenia, Dysphagia, Lymphopenia, Hepatitis	ORPHA:319218
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy...	ORPHA:100086
Igg4-Related Ophthalmic Disease	Prostatitis, Pancreatitis, Cholangitis, Elevated circulating C-reactive protein concentration, Ly...	ORPHA:449563
Thyrotoxic Periodic Paralysis	Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos...	ORPHA:79102
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, Broad thumb, Pos...	OMIM:304120
Systemic Lupus Erythematosus	Anorexia, Hematuria, Lymphadenopathy, Pyuria, Depression, Leukopenia, Proteinuria, Thrombocytopen...	ORPHA:536
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal temper tantrums, Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Bacterial endocardit...	ORPHA:2072
Camurati-Engelmann Disease	Anorexia, Hepatomegaly, Anemia, Hypertrophic cardiomyopathy, Leukopenia, Splenomegaly, Hypogonadi...	ORPHA:1328
Carney Triad	Anorexia, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Ascites	ORPHA:139411
Acrocardiofacial Syndrome	Camptodactyly of finger, Cryptorchidism, Low-set ears, Hyperthyroidism	ORPHA:2008
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Sarcoidosis, Susceptibility To, 1	Anorexia, Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Hypercalciuria, Pericardial ef...	OMIM:181000
Sponastrime Dysplasia	Limited elbow extension, Delayed epiphyseal ossification, Hypothyroidism, Precocious puberty, Ivo...	ORPHA:93357
Blau Syndrome	Anemia, Lymphadenopathy, Pericarditis, Splenomegaly, Abnormality of the liver, Stage 5 chronic ki...	ORPHA:90340
Wiskott-Aldrich Syndrome	Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platel...	ORPHA:906
Lymphangioleiomyomatosis	Hematuria, Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system, Ascites, Cogni...	ORPHA:538
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Andersen Cardiodysrhythmic Periodic Paralysis	Joint hypermobility, Enamel hypoplasia, Low-set ears, Hyperthyroidism	OMIM:170390
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Vestibular areflexia, Absent brainstem auditory responses	ORPHA:3240
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ...	OMIM:608203
Homozygous Familial Hypercholesterolemia	Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia, Renal artery steno...	ORPHA:391665
Igg4-Related Submandibular Gland Disease	Prostatitis, Cholangitis, Abnormal pancreas morphology, Renal insufficiency, Lymphadenopathy, Eos...	ORPHA:449432
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,...	ORPHA:35078
Hepatoerythropoietic Porphyria	Red urine, Purple urine, Red-brown urine, Abnormal circulating porphyrin concentration, Splenomeg...	ORPHA:95159
Neuroendocrine Neoplasm Of Appendix	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Tricuspid stenos...	ORPHA:100079
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Riddle Syndrome	Emotional lability, Enuresis nocturna, Generalized lymphadenopathy, Elevated circulating alpha-fe...	ORPHA:420741
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Tetralogy of Fallot, Lymphopenia, Neutropenia	ORPHA:51636
Kabuki Syndrome 1	Protruding ear, Recurrent otitis media, Low-set ears, Congenital hypothyroidism, Hearing impairme...	OMIM:147920
Pmm2-Cdg	Abnormal liver parenchyma morphology, Hyperinsulinemia, Elevated circulating hepatic transaminase...	ORPHA:79318
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Missing ribs, Bifid femur, Aplas...	ORPHA:2769
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal metaphysis morphology, Aplasia/hypoplasia of the femur, Broad distal phalanx of finger, ...	ORPHA:2636
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Low-set ears, Posteriorly rotated ears, Flexion contracture, Small pituitary gland	OMIM:619479
Blepharophimosis, Ptosis, And Epicanthus Inversus	Amenorrhea, Premature ovarian insufficiency, Female infertility, Irregular menstruation	OMIM:110100
Heart Defects, Congenital, And Other Congenital Anomalies	Perimembranous ventricular septal defect, Ureteral duplication, Transposition of the great arteri...	OMIM:600001
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Genitopatellar Syndrome	Hypothyroidism, Radioulnar synostosis, Hip contracture, Hearing impairment, Knee flexion contract...	OMIM:606170
Orofaciodigital Syndrome Type 4	Finger syndactyly, Split hand, Postaxial hand polydactyly, Micromelia, Camptodactyly of finger, A...	ORPHA:2753
Townes-Brocks Syndrome	Delayed puberty, Abnormal tragus morphology, Microtia, Abnormal pinna morphology, Hypothyroidism,...	ORPHA:857
Viss Syndrome	Generalized joint hypermobility, Inguinal hernia, Exostosis of the external auditory canal, Contr...	OMIM:619472
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic seizures, Anemia, Hypocalcemic tetany	ORPHA:93325
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Anemia, Abnormality of the pancreas, Cognitive impairment	ORPHA:935
Doors Syndrome	Optic atrophy, Spina bifida occulta, Low-set ears, Congenital hypothyroidism, Adrenal hyperplasia...	ORPHA:79500
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment	ORPHA:309246
Plague	Anorexia, Hepatomegaly, Depression, Lymphadenitis, Splenomegaly, Delirium, Enlarged mesenteric ly...	ORPHA:707
Alström Syndrome	Precocious puberty in females, Primary hypothyroidism, Abnormal vestibular function, Decreased ci...	ORPHA:64
Kinsship Syndrome	Polydactyly, Fibular hypoplasia, Dislocated radial head, Micrognathia, Mesomelia, Pes planus, Cox...	OMIM:619297
Peters Plus Syndrome	Optic atrophy, Low-set, posteriorly rotated ears, Anterior hypopituitarism, Spina bifida occulta,...	ORPHA:709
Ovarian Dysgenesis 3	Female infertility, Primary amenorrhea	OMIM:614324
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Hypospadias, Aggressive behavior, Emotional lability, Hyperactivi...	ORPHA:353281
Ring Chromosome 13 Syndrome	Primary hypothyroidism, Macrotia, Hypoplasia of the gallbladder, Posteriorly rotated ears	ORPHA:96176
Malakoplakia	Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Abnormality of the menstrual...	ORPHA:556
Osteopathia Striata With Cranial Sclerosis	Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ...	OMIM:300373
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Pro...	OMIM:614748
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal fear-induced behavior, Hypospadias, Aggressive behavior, Emotional lability, Hyperactivi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal fear-induced behavior, Hypospadias, Aggressive behavior, Emotional lability, Hyperactivi...	ORPHA:353277
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Oligomenor...	ORPHA:572333
Chikungunya	Depression, Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016

Histopathology

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

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

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.

No publications found that use IMPC mice or data for Duox2.

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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

Order Mouse and ES Cells

The IMPC Newsletter

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