Gene Summary

dual oxidase 2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Duox2em1(IMPC)Mbp HOM Early adult 4.08×10-36
abnormal kidney morphology Duox2em1(IMPC)Mbp HOM Early adult 0.00
increased circulating cholesterol level Duox2em1(IMPC)Mbp HOM Early adult 6.50×10-21
abnormal spleen morphology Duox2em1(IMPC)Mbp HOM Early adult 0.00
small heart Duox2em1(IMPC)Mbp HOM Early adult 0.00
small spleen Duox2em1(IMPC)Mbp HOM Early adult 0.00
increased circulating creatinine level Duox2em1(IMPC)Mbp HOM Early adult 1.08×10-07
increased circulating serum albumin level Duox2em1(IMPC)Mbp HOM Early adult 2.50×10-10
preweaning lethality, incomplete penetrance Duox2em1(IMPC)Mbp HOM   Early adult 0.00
increased freezing behavior Duox2em1(IMPC)Mbp HOM Early adult 3.39×10-29
increased neutrophil cell number Duox2em1(IMPC)Mbp HOM Early adult 1.65×10-07
increased circulating total protein level Duox2em1(IMPC)Mbp HOM Early adult 2.03×10-07
enlarged spleen Duox2em1(IMPC)Mbp HOM Early adult 0.00
increased circulating calcium level Duox2em1(IMPC)Mbp HOM Early adult 1.27×10-05
decreased grip strength Duox2em1(IMPC)Mbp HOM Early adult 1.94×10-35
decreased lymphocyte cell number Duox2em1(IMPC)Mbp HOM Early adult 3.66×10-05
increased fasting circulating glucose level Duox2em1(IMPC)Mbp HOM Early adult 4.00×10-06
small kidney Duox2em1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Duox2em1(IMPC)Mbp HOM   Early adult 2.35×10-13
decreased liver weight Duox2em1(IMPC)Mbp HOM   Early adult 1.36×10-09
abnormal heart morphology Duox2em1(IMPC)Mbp HOM Early adult 0.00
female infertility Duox2em1(IMPC)Mbp HOM Early adult 0.00
decreased monocyte cell number Duox2em1(IMPC)Mbp HOM   Early adult 8.34×10-05
abnormal lymph node morphology Duox2em1(IMPC)Mbp HOM Early adult 0.00
small liver Duox2em1(IMPC)Mbp HOM Early adult 0.00
decreased heart weight Duox2em1(IMPC)Mbp HOM Early adult 2.71×10-08
increased mean corpuscular volume Duox2em1(IMPC)Mbp HOM Early adult 3.82×10-09
abnormal liver morphology Duox2em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Duox2em1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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



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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.

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

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

Disease Similarity of
Matching phenotypes Source
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur OMIM:600121
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... OMIM:274300
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Pendred Syndrome
Congenital sensorineural hearing impairment, Cochlear malformation, Thyroid carcinoma, Compensate... OMIM:274600
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognathia, Rudimentary fibul... OMIM:249700
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... OMIM:147891
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Synostosis of... ORPHA:2098
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Talipes equinovarus, Hip dysplasia, Genu valgum, Coxa valga, Acetabular dysplasia OMIM:613618
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormal epiphysis morphology, Abnormal pelvic girdle bone mor... ORPHA:1509
Metaphyseal Anadysplasia 2
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Short femoral nec... OMIM:613073
Thyroid Hormone Metabolism, Abnormal, 1
Hypothyroidism, Decreased circulating free T3, Elevated circulating thyroid-stimulating hormone c... OMIM:609698
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Activating thyroid-stimulating hormone receptor defec... ORPHA:424
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d... ORPHA:158048
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Broad femoral neck, Short femoral... OMIM:609324
Hyperthyroidism, Nonautoimmune
Goiter, Thyroid hyperplasia, Hyperthyroidism, Small for gestational age OMIM:609152
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274700
Familial Gestational Hyperthyroidism
Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Weight loss, Thyroid hyp... ORPHA:99819
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Goiter, Incomplete partition of the cochlea type II, Enlarged v... OMIM:600791
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Shallow acetabular fossae, Broa... OMIM:142669
Familial Thyroid Dyshormonogenesis
Sensorineural hearing impairment, Thyroid defect in oxidation and organification of iodide, Decre... ORPHA:95716
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Fetal Iodine Deficiency Disorder
Hearing impairment, Congenital hypothyroidism, Congenital goiter OMIM:228355
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... OMIM:607078
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... ORPHA:240
Rhabdoid Tumor
Neoplasm of the liver, Hematuria, Hypercalcemia, Anemia, Thrombocytopenia, Irritability, Lymphade... ORPHA:69077
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone OMIM:188570
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... OMIM:617719
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Pendred Syndrome
Sensorineural hearing impairment, Thyroid carcinoma, Hypoplasia of the cochlea, Hypothyroidism, E... ORPHA:705
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Increa... OMIM:619868
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Multiple Myeloma
Nephrotic syndrome, Splenomegaly, Hyperproteinemia, Nephropathy, Elevated circulating creatinine ... ORPHA:29073
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Anxiety, Increased mean corpu... ORPHA:90041
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Weigh... OMIM:275000
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Broad foot, Patellar aplasia, Short foot, Hand po... OMIM:135750
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop... OMIM:267700
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Decreased circulating T4 concentration, Absent ossification of c... ORPHA:226313
Retinohepatoendocrinologic Syndrome
Maturity-onset diabetes of the young, Infertility, Optic disc pallor, Hypothyroidism OMIM:268040
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Hypertriglyceri... OMIM:612526
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... OMIM:616689
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter OMIM:274500
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Familial Papillary Or Follicular Thyroid Carcinoma
Recurrent fractures, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Nodular goiter, G... ORPHA:319487
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Hypopla... OMIM:226900
Multiple Endocrine Neoplasia, Type Iia
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Pheochrom... OMIM:171400
Fetal Iodine Syndrome
Hypothyroidism, Sensorineural hearing impairment ORPHA:1910
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Congenital Atransferrinemia
Hypothyroidism, Arthritis ORPHA:1195
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... OMIM:616828
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test OMIM:300123
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Short femoral neck, Genu varum, Hypoplasia of the odontoid p... OMIM:184255
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Hearing impairment, Goiter, Infertility OMIM:617577
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... OMIM:616860
Wolfram-Like Syndrome
Abnormal pinna morphology, Congenital sensorineural hearing impairment, Primary gonadal insuffici... ORPHA:411590
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Rothmund-Thomson Syndrome, Type 1
Osteoporosis, Hypothyroidism, Male hypogonadism, Recurrent otitis media, Premature ovarian insuff... OMIM:618625
Thyroid Cancer, Nonmedullary, 1
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma OMIM:188550
Omenn Syndrome
Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym... OMIM:603554
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Splenomegaly, Premature ovarian insufficiency, Anemia, Lymphadenopath... ORPHA:100025
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Dementia, Hepatomegaly, Splenomegaly ORPHA:2274
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Recurrent fractures, Goiter, Papillary thyroid carcinoma ORPHA:97290
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop... OMIM:603553
Carney Complex, Type 1
Pituitary adenoma, Elevated circulating growth hormone concentration, Thyroid carcinoma, Pheochro... OMIM:160980
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Broad femoral neck, Short femoral neck, Genu varum, Irregular patellae, Pat... OMIM:609325
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Tsh-Secreting Pituitary Adenoma
Impotence, Central adrenal insufficiency, Decreased fertility in males, Osteopenia, Increased cir... ORPHA:91347
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Anemia, Thrombocytopenia, Ascites ORPHA:2123
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Maffucci Syndrome
Recurrent fractures, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Neoplasm of the ad... ORPHA:163634
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL ch... OMIM:615703
Polyendocrine-Polyneuropathy Syndrome
Hypogonadism, Progressive hearing impairment, Central hypothyroidism OMIM:616113
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypothyroidism OMIM:262700
Maternal Uniparental Disomy Of Chromosome 9
Hamstring contractures, Failure to thrive, Elbow ankylosis, Congenital hypothyroidism, Low-set ears ORPHA:96183
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Hepatomegaly, Splenomegaly, Cognitive impairment, Cholestasis, Jaundice ORPHA:172
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Secondary amenorrhea, Premature ovarian insufficiency OMIM:617175
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Recurrent fractures, Precocious puberty, Hyp... ORPHA:457059
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Flared ili... OMIM:183849
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hypohidrosis, Goiter OMIM:255900
Mccune-Albright Syndrome
Abnormal endocrine physiology, Pancreatitis, Ovarian cyst, Increased circulating prolactin concen... ORPHA:562
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Portal fibrosis, Abnormal heart morphology, Re... ORPHA:370
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Micromelia, Hypop... ORPHA:440354
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper... OMIM:603552
Thyroid Cancer, Nonmedullary, 4
Goiter, Non-medullary thyroid carcinoma OMIM:616534
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormality of the lymph nodes ORPHA:33111
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... OMIM:306000
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Abnormality of tibia morphology, Bowing of the long bones, Abnor... ORPHA:1802
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... ORPHA:2756
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Reduced circulating prol... OMIM:300888
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter, Umbilical hernia OMIM:274400
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated tra... OMIM:613313
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Abnormality of the pituitary gland, Amenorrhea, Impotence, Decreased serum testosterone concentra... ORPHA:251623
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Bangstad Syndrome
Goiter, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gonadal insuffici... OMIM:210740
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Goiter, Weight loss, Hyperthyroidism OMIM:613239
Tibial Hemimelia
Absent tibia OMIM:275220
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619658
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Elevated circulating C-... OMIM:308240
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Hypervitaminosis A, Susceptibility To
Ascites, Hypercalcemia, Renal insufficiency, Abnormality of the liver OMIM:240150
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Elevated hepatic transami... ORPHA:507
Femoral-Facial Syndrome
Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Short femur, Micrognathia, Radio... ORPHA:1988
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Leukocytosis, Splenomegaly, Hypoproteinemia, Lymphadenitis, Elevated circulating cr... OMIM:615895
Galactokinase Deficiency
Increased level of galactitol in urine, Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogon... ORPHA:79237
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Hypoproteinemia, Decreased propor... ORPHA:90362
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Goiter OMIM:274240
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Medullary thyroid carcinoma, Aganglionic megacolon, Parathyr... ORPHA:653
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci... ORPHA:158061
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Euthyroid goiter ORPHA:3327
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... ORPHA:75234
Permanent Congenital Hypothyroidism
Thyroid dysgenesis, Goiter, Hypothyroidism, Umbilical hernia ORPHA:226292
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... ORPHA:64743
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Metaphyseal Chondrodysplasia, Schmid Type
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... OMIM:156500
Allan-Herndon-Dudley Syndrome
Flexion contracture, Stahl ear, Underfolded superior helices, Hypothyroidism, Prominent antihelix... OMIM:300523
Glutaric Aciduria Iii
Failure to thrive, Goiter, Hyperthyroidism OMIM:231690
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... ORPHA:2169
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... OMIM:614470
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone level, Central hypothyro... OMIM:301033
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Aplastic anemia, Macrocytic anemia,... ORPHA:811
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Portal fibrosis, Renal tubular acidosis, Dysme... ORPHA:264580
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... OMIM:616829
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... ORPHA:90674
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Stillbirth, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, Decreased motor nerve conduction velocity, Flexion contracture OMIM:619851
Hepatomegaly, Hyperproteinemia, Hepatitis, Acute kidney injury, Elevated serum transaminases duri... ORPHA:509
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Ment... OMIM:607616
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Elevated hep... ORPHA:98870
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Non-Acquired Panhypopituitarism
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Abnormal prolactin level, Decreased re... ORPHA:90695
Pelviscapular Dysplasia
Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Brachydactyl... ORPHA:93333
Immunodeficiency 31C
Hypothyroidism, Osteopenia, Delayed puberty, Diabetes mellitus OMIM:614162
Gne Myopathy
Hypothyroidism, Facial palsy, Limited wrist extension, Limited shoulder movement ORPHA:602
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Short tibia, Micrognathia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:226316
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... OMIM:610797
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenome... OMIM:615559
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Weight loss, Hyperthyroidism OMIM:188580
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormality of the lymph nodes OMIM:136580
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, Hypocalcemia, T lymphocytopenia DECIPHER:16
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia OMIM:615999
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Thyroid Lymphoma
Hypothyroidism, Goiter, Hashimoto thyroiditis, Hyperthyroidism ORPHA:97285
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Elevated circulating C-reactive... OMIM:619644
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepatic failure, Pulmonary lymphangiec... OMIM:235255
Blepharochalasis And Double Lip
Goiter OMIM:109900
Abnormality of the hepatic vasculature, Chronic kidney disease, Elevated hepatic transaminase, El... ORPHA:275555
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hypoglycemia, Elevated... OMIM:617156
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Medullary Thyroid Carcinoma
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Elevated calcitonin, ... ORPHA:1332
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Impotence, Intestinal ... ORPHA:652
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Multinodular goiter, Thyroid nodule, Goiter OMIM:180295
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Amenorrhea, Infertility, Hepatomegaly, Splenomegaly... OMIM:602390
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoarthritis, Osteoporos... ORPHA:77296
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Irritability, Splenomegaly, Extramedullary hematopoiesis, Anis... ORPHA:231226
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Dysmenorrhea, Splenomegaly, Ketotic hypoglycemia, Cirrhosis... ORPHA:79240
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... ORPHA:95619
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Splenomegaly, Polyuria, Hypercalciuria, Hypercalce... OMIM:239200
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Amenorrhea, Impotence, Lymphopenia, Cirrhosis, Hypo... OMIM:604250
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Wolcott-Rallison Syndrome
Double outlet right ventricle, Exocrine pancreatic insufficiency, Chronic kidney disease, Atrial ... ORPHA:1667
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Goiter, Hashimoto thyroiditis, Abnormal autonomic nervous system physiology ORPHA:83601
Atelosteogenesis Type Ii
Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu valgum, Rhizom... ORPHA:56304
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... ORPHA:167
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Anemia, Irritability, Hypercalcemia ORPHA:436
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Distal rena... OMIM:611590
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Irritability, S... ORPHA:231214
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism, Low-set ears, Sensorineural hearing impairment, Posteriorly rotated ears OMIM:617763
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... ORPHA:64744
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Atrial septal defect, Persistence of hemoglobin F, Tetralogy o... OMIM:612561
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Narrow greate... ORPHA:93316
Cowden Syndrome 5
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Hearing impairment, Subcutaneous... OMIM:615108
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Flattened femoral head, Coxa vara, Broad femoral neck, Short femoral neck, Arthralgia of the hip,... ORPHA:99642
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... OMIM:613101
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Right atrial enlargement, Restrictive cardiomyopath... OMIM:619313
Familial Hyperprolactinemia
Amenorrhea, Infertility, Osteopenia, Hemorrhagic ovarian cyst, Oligomenorrhea, Osteoporosis, Meno... ORPHA:397685
Joubert Syndrome 26
Panhypopituitarism, Decreased response to growth hormone stimulation test, Central hypothyroidism OMIM:616784
Hypophosphatasia, Infantile
Stillbirth, Elevated plasma pyrophosphate, Phosphoethanolaminuria, Hypercalciuria, Hypercalcemia,... OMIM:241500
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... ORPHA:300298
Diabetes Insipidus, Neurohypophyseal
Decreased circulating osteocalcin level, Osteopenia, Central diabetes insipidus OMIM:125700
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Hepatic failure, Leukopenia, Myocarditis, Abnormal macrophage morph... ORPHA:292
Cirrhosis, Hepatosplenomegaly, Elevated hepatic transaminase, Fatal liver failure in infancy, Hyp... ORPHA:263501
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Congenital Hypothyroidism
Abnormality of the thyroid gland, Thyroid dysgenesis, Anterior hypopituitarism, Hypothyroidism, H... ORPHA:442
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Blue Diaper Syndrome
Abnormal abdomen morphology, Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan con... OMIM:211000
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia, Elevated ... OMIM:618805
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... ORPHA:540
Hepatocellular Carcinoma
Hepatomegaly, Emotional lability, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Hy... ORPHA:88673
Pediatric-Onset Graves Disease
Failure to thrive, Graves disease, Craniosynostosis, Increased circulating free T3, Hyperhidrosis... ORPHA:525731
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Reduced bone mineral density, Hypergonadotropic hypogonadism, Primary amenor... ORPHA:2410
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... OMIM:620010
Potocki-Shaffer Syndrome
Hypothyroidism, Decreased skull ossification, Delayed puberty ORPHA:52022
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Metaphyseal irregularity, Slender finger, Flared metaphysis, Broad femoral neck, Flattened epiphy... OMIM:601668
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Flared metaphysis... OMIM:211350
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism, Craniosynostosis ORPHA:88643
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Oculoskeletodental Syndrome
Hypocalcemia, Hepatomegaly, Splenomegaly, Hypercalciuria, Mucopolysacchariduria, Hypercalcemia OMIM:618440
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Premature thelarche, Osteopenia, Osteolysis involving bones of the lower limbs, P... ORPHA:371428
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Blue Diaper Syndrome
Elevated hepatic transaminase, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcem... ORPHA:94086
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Short femur OMIM:601357
Cowden Syndrome 6
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Hearing impairment, Subcutaneous... OMIM:615109
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepatic failure, Pulmonary lymphangiec... ORPHA:1655
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Type I diabetes mellitus... OMIM:620044
Anaplastic Thyroid Carcinoma
Nodular goiter, Goiter, Weight loss, Anaplastic thyroid carcinoma ORPHA:142
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Increased body mass index, Congenital hypothyroidism, In... OMIM:614450
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Abnormality of the ear, Recurrent otitis media, EEG abnormality, Flexion contr... ORPHA:391372
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Anemia, Stage 5... OMIM:603278
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Exocrine pancreatic insufficiency, Hypoplasia of penis, Hypop... ORPHA:2315
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Short tibia, Micrognathia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia OMIM:207731
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:613038
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Neonatal death, Cholestasis, Elevated circulating creatin... OMIM:608104
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Microcytic anemia, Hypoa... OMIM:619013
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microtia, Camptodactyly of finger, Low-set, posteriorly rotated ears, Hypothyroidism, Delayed pub... ORPHA:2994
Thanatophoric Dysplasia Type 1
Short femur, Femoral bowing, Hypoplastic ilia, Brachydactyly, Micromelia, Short greater sciatic n... ORPHA:1860
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Osteoporosis, Hypothyroidism, Enamel hypoplasia, ... OMIM:612462
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... OMIM:613011
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Hypoglycemia, Diabetes mellitus, Insulin resistan... ORPHA:181393
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Chronic noninfectious lymphadenopathy, Mediastinal lymphade... ORPHA:97289
Congenital Toxoplasmosis
Hepatomegaly, Cognitive impairment, Elevated hepatic transaminase, Ascites, Anemia, Thrombocytope... ORPHA:858
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... OMIM:108720
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hyp... ORPHA:848
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased glomerular filtration rate, Elevated circulating creatinine concentration... ORPHA:85450
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Proteinuria, Anemia, Renal insufficiency, Hypercalcemia ORPHA:2668
Combined Pituitary Hormone Deficiencies, Genetic Forms
Amenorrhea, Ectopic anterior pituitary gland, Infertility, Abnormal prolactin level, Decreased re... ORPHA:95494
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Atrial septal defect, Hepatomegaly, Hypoproteinemia, Hyperammonemia, Hypoketotic hy... ORPHA:26793
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Splenomegaly, Depression, Neutropenia, Trimethylaminuria, Anemia OMIM:602079
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis... OMIM:614480
Non-Functioning Pituitary Adenoma
Impotence, Central adrenal insufficiency, Decreased fertility in males, Erectile dysfunction, Hyp... ORPHA:91349
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Steat... ORPHA:470
Castleman Disease
Decreased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Restric... ORPHA:160
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... ORPHA:1505
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Self-mutilation, Proteinuria, Pericarditis, Stage 5 chronic kidney disease, Elevate... OMIM:619487
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Osteoporosis, Hypothyroidism, Enamel hypoplasia, ... OMIM:103580
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He... OMIM:619991
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... OMIM:275200
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormality of the hepatic vasculature, Apathy, Cognitive impairment, Depression, Anxiety, Normoc... ORPHA:247691
Weismann-Netter Syndrome
Lateral femoral bowing, Anterior tibial bowing, Fibular bowing, Squared iliac bones OMIM:112350
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Glucose intolerance, Testicular atrophy, Impotence,... OMIM:235200
Hepatomegaly, Splenomegaly, Mastocytosis, Chronic leukemia, Hypercalcemia, Acute leukemia ORPHA:98292
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Jaundice OMIM:230350
Pituitary Stalk Interruption Syndrome
Failure to thrive, Abnormality of the hypothalamus-pituitary axis, Primary amenorrhea, Hypothyroi... ORPHA:95496
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... ORPHA:54251
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... OMIM:618278
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Bangstad Syndrome
Hyperinsulinemia, EEG abnormality, Increased circulating cortisol level, Abnormality of the parat... ORPHA:1227
Congenital Generalized Lipodystrophy
Amenorrhea, Hyperinsulinemia, Hepatomegaly, Cirrhosis, Increased C-peptide level, Oligomenorrhea,... ORPHA:528
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, Mental deterioration, F... OMIM:617575
Impotence, Dyspareunia, Central adrenal insufficiency, Decreased fertility in males, Osteopenia, ... ORPHA:2965
Primary hypothyroidism, Osteopenia, Lipodystrophy, Failure to thrive ORPHA:300536
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of Fallot, Macrocytic... OMIM:612562
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... ORPHA:100024
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Dengue Fever
Hepatomegaly, Hypoproteinemia, Leukopenia, Thrombocytopenia, Ascites ORPHA:99828
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Atrial septal defect, Hepatomegaly, Nephritis, Splenomegaly, Hypertrophic car... OMIM:617303
Ravine Syndrome
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials ORPHA:99852
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, Abnormality of tibia morphol... ORPHA:2634
Hypothyroidism Due To Tsh Receptor Mutations
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Delayed proximal fem... ORPHA:90673
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti... OMIM:176400
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Eosinophilia, Normocytic anemia, Macrocytic anemia, Hypogly... ORPHA:199299
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Mccune-Albright Syndrome
Pituitary adenoma, Precocious puberty, Elevated circulating growth hormone concentration, Hyperth... OMIM:174800
Hypothyroidism, Failure to thrive ORPHA:2118
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, He... ORPHA:91547
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Cowden Syndrome 1
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Hearing impairment, Subcutaneous... OMIM:158350
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Methylmalonic aciduri... OMIM:277410
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Short femur, Hypoplasia of the radius, Short tibia, Short ribs, Short humeru... OMIM:607143
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency 8
Lymphopenia OMIM:615401
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hepatomegaly, Coombs-positive hemolytic anemia, Ele... OMIM:614034
Branchiootorenal Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Euthyroid goiter, Microtia, Dila... OMIM:113650
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Alstrom Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Otitis media, Hypergonad... OMIM:203800
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Osteopenia, Central diabetes insipidus, Enlarged polycystic ovaries, Pit... ORPHA:91348
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Atelosteogenesis Type Iii
Talipes equinovarus, Absent humerus, Hand clenching, Knee dislocation, Distal tapering femur, Sho... ORPHA:56305
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated ... ORPHA:367
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis, Irritability OMIM:612126
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Progressive psychomotor deterioration, ... ORPHA:251004
Immunodeficiency 40
Lymphopenia OMIM:616433
Increased circulating prolactin concentration, Infertility, Oligomenorrhea, Menorrhagia OMIM:615555
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hyperinsulinemic hypoglycemia, Steatorrhea, Hepatic failure, Cirrhosis, Renal cyst,... OMIM:602579
Congenital Disorder Of Glycosylation, Type Ii
Sensorineural hearing impairment, Decreased body weight, Hypothyroidism, Joint laxity, Hypsarrhyt... OMIM:607906
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Abnormality of the ankles, Cuboidal metacarpal, Abnormally shaped carpal bones, Ta... ORPHA:968
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Hypothyroidism, Cryptorchidism, EEG abnormality, Inguinal hernia OMIM:613970
Poems Syndrome
Abnormality of the endocrine system, Sclerosis of skull base, Sclerosis of foot bone, Papilledema... ORPHA:2905
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Renal insufficiency, Neutropenia, Anemi... ORPHA:79312
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... ORPHA:280356
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... ORPHA:2492
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarged kidney, Ele... OMIM:608836
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... OMIM:227270
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Hypoalbuminemia, Ascites OMIM:226300
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Elevated circ... OMIM:210250
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Wide anterior fontanel, Decreased circulating T4 con... ORPHA:95715
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Polycystic kidney dysplasia, Hypercalcemia, Recurrent pancreatitis, Pancreatic a... OMIM:145001
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Hypothyroidism, Infertility OMIM:264300
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Short tibia, Micrognathia, Micromelia, Oligodactyly, Hu... OMIM:251230
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... OMIM:609628
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sciatic notch, Femor... OMIM:608728
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Joint stiffness, Testicular atrophy, Infertility, Decreased serum testosterone concen... ORPHA:465508
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Short femur, Micrognathia, Aplasia/hypoplasia involving bones of t... ORPHA:94068
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubin... OMIM:269920
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... OMIM:613673
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... OMIM:300635
Non-Functioning Paraganglioma
Elevated urinary dopamine, Panic attack, Hematuria, Hypercalcemia, Elevated urinary epinephrine, ... ORPHA:94080
Hypercalcemia, Infantile, 1
Nephrolithiasis, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalciuria, Infantile hy... OMIM:143880
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Sandhoff Disease
Motor deterioration, Hepatomegaly, Progressive psychomotor deterioration, Splenomegaly ORPHA:796
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated... OMIM:616278
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Depression, Increased urinary porphobilinogen, Elevated urinary delta... OMIM:121300
Hydrocephalus With Associated Malformations
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Lower limb undergrowth OMIM:236640
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphade... ORPHA:79477
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Mcleod Syndrome
Hepatomegaly, Splenomegaly, Depression, Elevated circulating creatine kinase concentration, Eleva... OMIM:300842
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Splenoportal Vascular Anomalies
Hyperammonemia, Splenomegaly, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous ... OMIM:271500
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s... OMIM:300972
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germ... OMIM:619924
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... ORPHA:2502
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Wilson Disease
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... OMIM:277900
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Hepatomegaly, Elevated alpha-fetoprotein, Multiple renal cysts, Hepatic cysts, Situs... OMIM:613095
X-Linked Sideroblastic Anemia
Glucose intolerance, Splenomegaly, Abnormality of iron homeostasis, Elevated hepatic transaminase... ORPHA:75563
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Elevated creatine kinase after exercise, Elevated hepatic transaminase, A... ORPHA:284426
Glycoprotein Storage Disease
Splenomegaly OMIM:232900