Gene Summary

suppressor of cytokine signaling 2
D130043N08Rik,  STAT-induced STAT inhibitor 2,  Cish2,  SOCS-2,  CIS2,  SSI-2,  JAB,  cytokine-inducible SH2 protein 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 grip strength Socs2em1(IMPC)H HOM Early adult 4.73×10-05
increased spleen weight Socs2em1(IMPC)H HOM   Early adult 9.97×10-05
increased circulating creatinine level Socs2em1(IMPC)H HOM Early adult 7.51×10-05

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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.

Phenotype associated images not available

Human diseases caused by Socs2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Socs2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Abn... ORPHA:1802
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Increased circulating antibody level, Arthralgia/arthritis, Nonketotic hypo... ORPHA:411593
Hyperinsulinism Due To Insr Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... ORPHA:263458
Eiken Syndrome
Epiphyseal dysplasia, Abnormal fingertip morphology, Short phalanx of finger, Abnormal trabecular... ORPHA:79106
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Abnormal cortic... ORPHA:3152
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Coarse metaph... ORPHA:2779
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Abnormality of the fifth metatarsal bone, Abnormality of the third metata... ORPHA:564003
Plin1-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Lipoatrophy, Hepatic fibrosis, Hyperinsulinemia, Hyp... ORPHA:280356
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Diaphyseal thickening, Cranial hyp... ORPHA:3416
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Rickets of the lower limbs, Genu varum, Bulging epiphyses, Bowing of the long bones, Del... OMIM:600785
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, T... ORPHA:79299
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Hyperinsulinemic Hypoglycemia, Familial, 7
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... OMIM:610021
Multiple Symmetric Lipomatosis
Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology, Insulin resistance ORPHA:2398
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hyperuricemia, Hyp... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Lipodystrophy, Hypercholesterolemia, Generalized lipodystrophy, Diabetes mell... OMIM:612526
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Osteopenia, Bowing of the long bones ORPHA:53697
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Proximal muscle weakness in lower li... ORPHA:435660
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Diabetes mellitus, Pancreatitis, Hepatomegaly, Hyperinsulinemia, Hepatic steatosis, ... ORPHA:79084
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Lipoatrophy, Skeletal muscle hypertrophy, Hypertriglyceridemia, Hepatic steatosis,... OMIM:613877
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Excessive insulin response to glu... ORPHA:324575
Weismann-Netter Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Ab... ORPHA:3344
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Abnormal circulating insulin concentration, Proximal muscle weakness in low... ORPHA:171706
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Angioosteohypotrophic Syndrome
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abnormal trabecular bone mo... ORPHA:75508
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Abnormal circulating lipid concentration, Myopathy, Diabetes mellitus, Lower limb ... OMIM:615980
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Type II diabetes mellitus, Increased adipose tissue, Hyperinsulinemia ORPHA:71529
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Decreased serum leptin, Hepati... ORPHA:79085
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperlipidemia, Elevated hepatic transaminase, Hyperinsulinemia ORPHA:329249
Caffey Disease
Calvarial hyperostosis, Bowing of the legs, Cortical irregularity, Periosteal thickening of long ... OMIM:114000
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad long bones, Broad femoral head, Sclerosis of middle finger phalanx, Broad radial metaphysis... ORPHA:85188
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Fasting hypoglycemia, Maternal diabetes, Excessive insulin response to glucagon test, Abnormal or... ORPHA:276580
Summitt Syndrome
Craniosynostosis, Syndactyly, Obesity OMIM:272350
Metaphyseal Chondrodysplasia, Schmid Type
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... ORPHA:174
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hy... OMIM:606762
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Fasting hypoglycemia, Excessive insulin response to glucagon test, Hepatomegaly, Increased C-pept... ORPHA:276575
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Abnormal hip bone mo... ORPHA:970
Growth Hormone Insensitivity Syndrome
Hypogonadism, Diabetes mellitus, Diabetes insipidus, Type II diabetes mellitus, Insulin resistanc... ORPHA:181393
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hepatomegaly, Hyperglycemia, Acute pa... OMIM:608600
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypoglycemic seizures, Hyperinsulinemia, Elevated circ... OMIM:620211
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Multiple pancreatic beta-cell adenomas, Insulinoma, Type II diabetes ... OMIM:147630
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized lipodystrophy, Myopathy, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Hypertriglyceride... ORPHA:363400
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Dietary Iron Overload Disease
Peritonitis, Hepatocellular carcinoma, Elevated transferrin saturation, Diabetes mellitus, Hepati... ORPHA:139507
Familial Expansile Osteolysis
Thin bony cortex, Osteolysis, Bowing of the long bones OMIM:174810
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology, Obesity ORPHA:1078
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to growth hormone... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Cholestasis, Central adrenal insufficiency, Decreased response to growth hormone... ORPHA:71526
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of limb bone morphology, Increased bone mineral density, Abnormal cortical bone morph... ORPHA:2204
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Increased bone mineral density, Cortical thickening of long bone diaphyses, Tibia... OMIM:166740
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Colitis, Hepatomegaly, Splenomegaly, Acne, Hepatitis, Recurr... OMIM:300635
Pyle Disease
Reduced bone mineral density, Metaphyseal widening, Metaphyseal dysplasia, Thin bony cortex, Genu... OMIM:265900
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Increased serum leptin OMIM:617885
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Periosteal thickening of long... ORPHA:1310
Simpson-Golabi-Behmel Syndrome, Type 2
Short finger, Recurrent respiratory infections, High palate, Recurrent lower respiratory tract in... OMIM:300209
Congenital Generalized Lipodystrophy
Macroglossia, Lipodystrophy, Adipose tissue loss, Diabetes mellitus, Precocious puberty in female... ORPHA:528
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Bulging epiphyses, Failure to thrive, Delayed epiphyseal ossification, Femoral bowing, S... OMIM:600081
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hy... ORPHA:35878
Hyperinsulinism Due To Ucp2 Deficiency
Excessive insulin response to glucagon test, Recurrent hypoglycemia, Reactive hypoglycemia, Hepat... ORPHA:276556
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Diabetes mellitus, Elevated circulating alanine aminotransferase concentration, He... OMIM:615381
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Adipose tissue loss, Hepatomegaly, S... OMIM:151660
Hyperglycemia, Hyperinsulinemia OMIM:616214
Bardet-Biedl Syndrome 14
Renal insufficiency, Polydactyly, Obesity OMIM:615991
Intellectual Developmental Disorder, X-Linked 91
High palate, Macrodontia, Short 5th finger, Small hand, Clinodactyly, Short foot, Obesity OMIM:300577
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Hyperuricemia, Lipoatrophy, Diabetes mellitus, Pancreatitis, Myopathy, Hepatom... ORPHA:79083
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Tooth malposition, Micropenis, Abnormality of dental morphology, Hypoplasia of pe... ORPHA:85274
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Acquired Partial Lipodystrophy
Myopathy, Hepatic steatosis, Insulin resistance, Lipoatrophy ORPHA:79087
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hyperinsulinemia, Hypergonad... ORPHA:66628
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia, Hyperinsulinemia,... ORPHA:276608
Pancreatic hypoplasia, Neonatal hypoglycemia, Abnormal circulating insulin concentration, Hepatoc... ORPHA:552
Variant Abeta2M Amyloidosis
Chronic kidney disease, Abnormal salivary gland morphology, Renal amyloidosis, Abnormality of the... ORPHA:314652
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short foot, Abnormal cortical bone morphology, Upper limb undergrowth, Toe clinodactyly ORPHA:166277
Bardet-Biedl Syndrome 18
Obesity, Renal insufficiency, Stage 5 chronic kidney disease, Brachydactyly OMIM:615995
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypertriglyceridemia, ... ORPHA:179494
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Osteoarthritis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insuli... ORPHA:2298
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Lipoatrophy, Diabetes mellitus, Pancreatitis, Myopathy, Hepatomegaly, Skeletal mus... ORPHA:2348
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Metatropic Dysplasia
Camptodactyly of finger, Abnormal cortical bone morphology, Abnormal metaphysis morphology, Abnor... ORPHA:2635
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Finger joint hypermobility, Genu valgum, Obesity ORPHA:436141
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... ORPHA:158061
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism, Short foot, Tapered finger OMIM:309585
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia OMIM:620195
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, P... ORPHA:199296
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Hyperinsulinemia, Hypertriglyceridemia... ORPHA:2457
Van Buchem Disease
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis OMIM:239100
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Generalized lipodystrophy, Myopathy, Hepatomegaly, Hype... ORPHA:79086
Galactokinase Deficiency
Hepatosplenomegaly, Hypergalactosemia, Hepatomegaly, Increased level of galactitol in plasma, Hyp... ORPHA:79237
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Broad thumb, Femoral bowing, Short 5th metacarpal, Thin bony cortex OMIM:619638
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Slender long bone, Thin bony cortex, Pseudoarthrosis, Bowing of the... OMIM:619795
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young OMIM:613370
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Dorsocervical fat pad, Diabetes mellitus, Delayed thelarche, Hyperinsulinemic hy... OMIM:616033
Transient Neonatal Diabetes Mellitus
Macroglossia, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hyperglycemia, Transient neona... ORPHA:99886
Bardet-Biedl Syndrome 10
Obesity, Renal insufficiency, Polydactyly, Renal cyst OMIM:615987
Weismann-Netter Syndrome
Calvarial hyperostosis, Lateral femoral bowing, Anterior tibial bowing, Fibular bowing, Squared i... OMIM:112350
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Multiple pancreatic beta-cell adenomas, Elevated circulating growth hormon... ORPHA:79644
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Impaired glucose tolerance, Gout, Hypertriglyceridemia, ... OMIM:610947
Cortisone Reductase Deficiency 2
Premature pubarche, Insulin resistance OMIM:614662
Summitt Syndrome
Craniosynostosis, Camptodactyly of finger, Obesity, Finger syndactyly, Short 4th metacarpal, Clin... ORPHA:3210
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic rickets, Delayed epiphyseal ossificati... OMIM:300554
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Muscular dystrophy, Hepatomegaly, Elevated hepatic transaminase, Hyperinsulinemia,... OMIM:613327
Primary Lipodystrophy
Lipodystrophy, Lipoatrophy, Myopathy, Pancreatitis, Skeletal muscle hypertrophy, Cirrhosis, Hyper... ORPHA:90970
Deviation of finger, Abnormality of tibia morphology, Abnormal cortical bone morphology, Clubbing... ORPHA:1525
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Reduced C-peptide level, Type I diabetes mellitus OMIM:618856
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Bulging epiphyses, Hypophosphatemic rickets, Failure to thrive, Delayed epiphyseal ossif... OMIM:241530
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Short long bone, Short 2nd metacarpal, E... OMIM:118651
Grant Syndrome
Abnormal cortical bone morphology, Bowing of the long bones, Abnormality of the glenoid fossa, De... ORPHA:2097
Hypothyroidism, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Abnormal circulating enzyme ... ORPHA:79319
Porphyria Cutanea Tarda
Hepatocellular carcinoma, Abnormal erythrocyte enzyme level, Chronic hepatitis, Decreased circula... ORPHA:101330
Obesity, Ectopic ossification, Short distal phalanx of the thumb, Short metatarsal, Short 4th met... ORPHA:79445
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Bardet-Biedl Syndrome 5
Micropenis, Polydactyly, Syndactyly, Brachydactyly, Obesity OMIM:615983
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Congenital Bile Acid Synthesis Defect Type 4
Rhabdomyolysis, Cholestatic liver disease, Hypogonadism, Elevated hepatic transaminase, Elevated ... ORPHA:79095
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Glycosuria, Pancreatic islet-cell hyperplasia, Hepat... ORPHA:263455
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Skeletal ... ORPHA:435651
Familial Renal Glucosuria
Abnormal circulating insulin concentration, Glycosuria, Abnormal oral glucose tolerance, Hypergly... ORPHA:69076
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... OMIM:262190
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Diabetes mellitus, Proximal upper limb muscle hypertrophy, Hepatomegaly, Increased facial adipose... ORPHA:280365
Seckel Syndrome 10
Impaired glucose tolerance, Glycosuria, Elevated circulating aspartate aminotransferase concentra... OMIM:617253
Adenocarcinoma Of The Esophagus
Obesity, Barrett esophagus, Clinodactyly of the 5th toe, Esophageal carcinoma ORPHA:99976
Ck Syndrome
Slender build, Abnormal digit morphology, Abnormal cortical bone morphology OMIM:300831
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Stage 5 chronic kidney disease, Polydactyly, Renal cyst, Renal ... OMIM:615993
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Nonketotic hypoglycemia, Hypog... ORPHA:293964
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Aplasia/Hypoplasia of metatarsal bones, Genu varum, Metaphyseal widening, Broad femoral metaphyse... ORPHA:2502
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Genu varum, Flattened epiphysis, Metaphyseal irregularity, Flared metaphysis, ... ORPHA:93356
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Bulging epiphyses, Failure to thrive, Delayed epiphyseal ossification, Femoral bowing, S... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Rickets, Bulging epiphyses, Failure to thrive, Delayed epiphyseal ossification, Femoral bowing, S... OMIM:277440
Perlman Syndrome
Inguinal hernia, Femoral hernia, Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology ORPHA:2849
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Cryptorchidism, Abnormality of the dentition, Polydactyly, Renal cyst,... OMIM:615982
Congenital Disorder Of Glycosylation, Type It
Rhabdomyolysis, Delayed puberty, Chronic hepatitis, Elevated circulating aspartate aminotransfera... OMIM:614921
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Hashimoto thyroiditis, Hepatomegaly, Elevated hepatic transaminase, Fulminant hepatitis... OMIM:618549
Alstrom Syndrome
Hyperuricemia, Chronic active hepatitis, Tubulointerstitial nephritis, Multinodular goiter, Diabe... OMIM:203800
Donohue Syndrome
Fasting hypoglycemia, Adipose tissue loss, Postprandial hyperglycemia, Cholestasis, Pancreatic is... OMIM:246200
Pituitary prolactin cell adenoma, Recurrent hypoglycemia, Fasting hyperinsulinemia, Reactive hypo... ORPHA:97279
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Generalized lipodystrophy, Loss of truncal subcutan... OMIM:608612
Estrogen Resistance
Delayed puberty, Impaired glucose tolerance, Increased circulating osteocalcin level, Elevated al... OMIM:615363
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Mildly elevated creatine kinase, Neonatal hypoglycemia, Hyperammonemia, Ab... ORPHA:71212
Retinitis Pigmentosa
Hypogonadism, Type II diabetes mellitus, Atypical scarring of skin, Hyperinsulinemia ORPHA:791
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... ORPHA:540
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis, Thickened cortex of long bon... OMIM:607634
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Hyperbilirubinemia, Ery... OMIM:237800
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... ORPHA:93405
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Generalized aminoaciduria ORPHA:882
Acromegaloid Facial Appearance Syndrome
Deep philtrum, Tapered finger, Short 5th metacarpal, Thick vermilion border, Large for gestationa... OMIM:102150
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Increased circulating IgE level, Erythroderma, Arthritis, Hepatitis, Hypothyr... OMIM:304790
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Abnormal cortical bone morphology, Slender long bone ORPHA:1486
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fa... OMIM:602579
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Flared iliac wing, Metaphyseal irregularity, Cone-shaped epiphyses of the phala... OMIM:300106
Hemochromatosis, Type 4
Elevated transferrin saturation, Impaired glucose tolerance, Diabetes mellitus, Hepatomegaly, Ost... OMIM:606069
Bdv Syndrome
Delayed puberty, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Decreas... OMIM:619326
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Elevat... OMIM:616329
Obesity, Osteoporosis, Short metatarsal, Short metacarpal, Brachydactyly OMIM:612463
Dent Disease 1
Rickets, Bulging epiphyses, Osteomalacia, Delayed epiphyseal ossification, Femoral bowing, Sparse... OMIM:300009
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Impaired glucose tolerance, Camptodactyly, Calcinosis, Hepatomegaly, Hyperinsuline... OMIM:248370
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Jaundice, Cholestatic liver disease, Glycosuria, Nephrogenic diabetes insipidus, Hepatomegaly, El... OMIM:613404
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism, Short metacarp... OMIM:603233
Autoimmune Hepatitis
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Glomerulonephritis, Diffuse hepatic steatosi... ORPHA:2137
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Abnormal diaphysis morphology, Wide anterior fontanel, Coxa valga... ORPHA:85184
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing ORPHA:2768
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism ORPHA:3085
Immunodeficiency With Hyper-Igm, Type 1
Impaired Ig class switch recombination, Increased circulating IgA level, Stomatitis, Chronic hepa... OMIM:308230
Cortisone Reductase Deficiency 1
Oligomenorrhea, Obesity, Infertility OMIM:604931
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Increased blood urea nitrogen, Pancytopenia, Hepatic steatosis, Elevated circulatin... OMIM:617872
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Generalized muscular appearance from birth, Diabetes mellitus, Umbilical hernia, H... OMIM:608594
Acrorenal Syndrome
Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia, Cleft palate, Abnormal ... ORPHA:971
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabet... OMIM:618858
Splenoportal Vascular Anomalies
Hyperammonemia, Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, ... OMIM:271500
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Obesity OMIM:184700
Bile Acid Synthesis Defect, Congenital, 3
Ductal bile plugs, Jaundice, Elevated circulating aspartate aminotransferase concentration, Intra... OMIM:613812
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short finger, Narrow greater sciatic notch, Metaphyseal cupping, Flat acetabular roof, Cone-shape... OMIM:250220
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Reduced bone mineral density, Long fibula, Abnormal metaphysis morphology ORPHA:935
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Abnormal diaphysis morphology, Flexion contracture of toe, Obesity, Oste... ORPHA:3409
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Generalized muscular appearance from birth, Umbilical hernia, Hepatomegaly, Elevat... OMIM:269700
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Genu varum, Irregular, rachitic-like metaphyses, Osteomalacia, Failure to thrive, Delaye... ORPHA:289157
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Tooth agenesis, Flattened epiphysis, Truncal obesity, Advanced ossification of carpa... OMIM:618363
Narcolepsy Type 1
Obesity ORPHA:2073
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
High palate, Abnormal metacarpal morphology, Abnormal morphology of ulna, Abnormal testis morphol... ORPHA:2233
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Epiphyseal stippling, Failure to thrive OMIM:600121
Hepatocellular Carcinoma
Hepatocellular carcinoma, Subacute progressive viral hepatitis, Micronodular cirrhosis OMIM:114550
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabet... OMIM:606176
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:610582
Autosomal Agammaglobulinemia
Chronic otitis media, Skin rash, Arthritis, Hepatitis, Sinusitis, Recurrent skin infections, Bron... ORPHA:33110
Bardet-Biedl Syndrome 7
Polydactyly, Postaxial polydactyly, Narrow mouth, 2-3 toe syndactyly, Clinodactyly, Obesity OMIM:615984
Bangstad Syndrome
Primary gonadal insufficiency, Increased circulating cortisol level, Abnormality of the parathyro... ORPHA:1227
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Camptodactyly, Hashimoto thyroiditis, Hepatomegaly, Decreased circulating IgA level, Splenomegaly... OMIM:613385
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Hip dislocation, Abnormal cortical bon... ORPHA:2484
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Recurrent respiratory infections, Hepatomegaly, Large for gestational age ORPHA:2432
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Inflammatory abnormality of the skin, Colitis, Gastritis, Hypothyroidism, ... ORPHA:37042
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic hypoplasia, Diabetes mellitus, Cholestasis, Umbilical hernia, Hepatic fibrosis, Hepato... OMIM:610199
Gorham-Stout Disease
Patchy reduction of bone mineral density, Osteolysis, Osteolysis involving bones of the lower lim... ORPHA:73
Estrogen Resistance Syndrome
Elevated tissue non-specific alkaline phosphatase, Hyperinsulinemia, Acne, Glucose intolerance, A... ORPHA:785
Carpenter Syndrome
Craniosynostosis, Polydactyly, Obesity, Finger syndactyly, Syndactyly, Preaxial foot polydactyly,... ORPHA:65759
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Increased circulating antibody level, Decreased circulating total IgA, Chroni... ORPHA:169160
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic sinusitis, Diabetes mellitus, Decreased specific pneumococcal antibody level, Liver absce... ORPHA:183675
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Cryptorchidism, Nephrocalcinosis, Postaxial polydactyly, Obesit... OMIM:615633
Primary Biliary Cholangitis
Hepatocellular carcinoma, Gastrointestinal inflammation, Jaundice, Increased circulating IgA leve... ORPHA:186
Lethal Faciocardiomelic Dysplasia
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Short 5th finger, Hypoplasi... ORPHA:1972
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Shortening of the talar neck, Hypophosphatemic rickets, Osteomalacia, Trapezoidal distal... OMIM:307800
Hypertriglyceridemia 1
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Isolated Sedoheptulokinase Deficiency
Diastasis recti, Cholestatic liver disease, Inguinal hernia, Postprandial hyperglycemia, Cholesta... ORPHA:440713
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Overweight, Short thumb, Osseous finger syndactyly, Short distal ... ORPHA:370010
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Downturned corners of mouth, Small hand, Clinodactyly, Acromicria, Postnatal growth retardation, ... ORPHA:254525
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Primary Sclerosing Cholangitis
Cholestasis, Hepatomegaly, Abnormal biliary tract morphology, Cholelithiasis, Hepatosplenomegaly,... ORPHA:171
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Autoimmune Polyendocrine Syndrome, Type Ii
Keratoconjunctivitis, Thymoma, Asplenia, Chronic hepatitis, Steatorrhea, Chronic mucocutaneous ca... OMIM:269200
Al Amyloidosis
Macroglossia, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits, Abnorm... ORPHA:85443
Nephronophthisis 15
Elevated hepatic transaminase, Nephronophthisis, Polydactyly, Obesity OMIM:614845
Shox-Related Short Stature
Forearm undergrowth, High palate, Obesity, Lower limb undergrowth, Genu valgum, Short foot, Ulnar... ORPHA:314795
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Maturity-onset diabete... OMIM:609812
Bile Acid Synthesis Defect, Congenital, 1
Jaundice, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Elevated hepatic transaminase, Cir... OMIM:607765
Essential Fructosuria
Hyperglycemia, Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or ac... ORPHA:2056
X-Linked Agammaglobulinemia
Chronic otitis media, Recurrent cutaneous abscess formation, Skin rash, Arthritis, Hepatitis, Sin... ORPHA:47
Pituitary Hormone Deficiency, Combined, 2
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Abnormal circulating adr... OMIM:262600
Type 1 Diabetes Mellitus
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia OMIM:222100
Late-Onset Isolated Acth Deficiency
Graves disease, Hypercalcemia, Adrenocorticotropin deficient adrenal insufficiency, Hyperuricemia... ORPHA:199299
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Cholestasis, Steatorrhea, Hepatomegaly, Prolonged neonatal jaundice, Elevated hepatic t... ORPHA:79303
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Macroglossia, Increased serum testosterone level, Impaired glucose toleranc... ORPHA:769
Clark-Baraitser syndrome
Widely-spaced maxillary central incisors, Maxillary lateral incisor microdontia, Tapered finger, ... OMIM:300602
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Oligodontia, Anodontia, Everted lower lip vermilion, Tapered finger, Obesity ORPHA:276630
Sickle Cell Anemia
Leukocytosis, Reticulocytosis, Hemolytic anemia, Pigment gallstones, Cholestasis, Hypochromic ane... ORPHA:232
Multiple Endocrine Neoplasia Type 4
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... ORPHA:276152
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Splenomegaly ORPHA:444463
Desbuquois Dysplasia 1
Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short metatarsal, A... OMIM:251450
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly, Aminoaciduria ORPHA:664
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Fibular Hemimelia
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... ORPHA:93323
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Keratoconjunctivitis, Decreased circulating parathyroid hormone level, Asplenia, Chronic active h... OMIM:240300
Autoimmune Polyendocrinopathy Type 4
Graves disease, Biliary cirrhosis, Thymoma, Tubulointerstitial nephritis, Hashimoto thyroiditis, ... ORPHA:227990
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Femoral bowing, Generalized osteoporosis, Bowing of the long bones OMIM:617952
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Distal femoral bowi... ORPHA:289176
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatocellular carcinoma, Elevated transferrin saturation, Testicular atrophy, Diabetes mellitus,... ORPHA:465508
Intellectual Developmental Disorder, X-Linked 108
Thin upper lip vermilion, Overweight, Long philtrum, Clinodactyly of the 5th finger OMIM:301024
Autoimmune Polyendocrinopathy Type 3
Graves disease, Biliary cirrhosis, Thymoma, Autoimmune hypoparathyroidism, Tubulointerstitial nep... ORPHA:227982
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Mehmo Syndrome
Cryptorchidism, Micropenis, Hypoplasia of penis, Tapered finger, Downturned corners of mouth, Thi... ORPHA:85282
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating creatine kinase concentratio... OMIM:611182
Laurence-Moon Syndrome
Hand polydactyly, Cryptorchidism, Obesity, Renal insufficiency, Congenital hepatic fibrosis, Fing... ORPHA:2377
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of fibula morphology, Lower limb undergrowth, Tibial bowing, Radial bowing, Abnormall... ORPHA:3035
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Polydactyly, Tubulointerstitial nephritis, Cholestasis, Hepatic f... OMIM:616629
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase, Proximal amyotrophy OMIM:604484
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Bardet-Biedl Syndrome 19
Hydronephrosis, Postaxial polydactyly, Renal insufficiency, Hepatic steatosis, Renal hypoplasia, ... OMIM:615996
Léri-Weill Dyschondrosteosis
Abnormality of the humerus, Short tibia, Dorsal subluxation of ulna, Diaphyseal thickening, Radia... ORPHA:240
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia OMIM:615593
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Epiphyseal stippling, Increased body weight OMIM:274300
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Hepatocellular carcinoma, Impaired glucose tolerance, Hypophosphatemia, Gly... ORPHA:2088
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Multiple bony cystic lesions, Abnormal trabecular bone morphology ORPHA:83451
Immunodeficiency 56
Cholangitis, Hepatic failure, Cirrhosis, Recurrent otitis media, Recurrent pneumonia, Bronchiecta... OMIM:615207
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Micropenis, Widely spaced toes, Shortening of all distal phalanges of the fingers... OMIM:301900
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... ORPHA:79493
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Short metatarsal, Advanced ossification of carpal bones, Short phalanx of finger, Short ... OMIM:614613
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hip dislocation, Delayed ossification of carpal bones, Dislocated radial head, Tapered finger, Sh... OMIM:618395
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia, Hyperuricemia, Elevated circulating creatinine concentration OMIM:617056
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Cholestasis, Obesity, Hepatic fibrosis, Hepatomegaly, Nephronophthisis, S... OMIM:615630
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Congenital hip dislocation, Increased T3/T4 ratio, Delayed eruption of teeth, Incre... OMIM:614450
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatosplenomegaly, Acute hepatic failure, Cholangitis, Camptodactyly, Cirrhosis, Hepatitis, Port... ORPHA:228426
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Syndactyly, Clinodactyly of the 5th finger, Tapered finger OMIM:618725
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft palate, Hypodontia, Lip pit, Cleft upper lip, Lower lip... ORPHA:888
Clark-Baraitser Syndrome
High palate, Downturned corners of mouth, Long philtrum, Smooth philtrum, Short philtrum, Clinoda... OMIM:617752
Adult-Onset Still Disease
Myocarditis, Abnormal circulating lipid concentration, Skin rash, Bone marrow hypocellularity, He... ORPHA:829
Microduplication Xp11.22P11.23 Syndrome
Toe syndactyly, Obesity ORPHA:217377
Bardet-Biedl Syndrome 22
Large for gestational age, Hypogonadism, Obesity OMIM:617119
Polyendocrine-Polyneuropathy Syndrome
Proximal muscle weakness in lower limbs, Central hypothyroidism, Decreased circulating follicle s... ORPHA:453533
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity, Hallux valgus, Cone-shaped epiphysis, Dental crowding OMIM:606772
Pituitary Hormone Deficiency, Combined, 6
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Decreased circulating fo... OMIM:613986
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
High palate, Small hand, Clinodactyly, Postnatal growth retardation, Short philtrum, Short foot, ... ORPHA:254531
Dominant Beta-Thalassemia
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Delayed puberty, Hypopituitarism, Chronic... ORPHA:231226
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin-resistant diabetes mellitus, Insulin r... ORPHA:90301
Cerebrooculofacioskeletal Syndrome 1
Camptodactyly, Arthrogryposis multiplex congenita, Knee flexion contracture, Recurrent pneumonia,... OMIM:214150
Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis, Hypogonad... ORPHA:848
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Trisomy 5P
Obesity, Renal hypoplasia/aplasia, Abnormal metacarpal morphology, Hypoplasia of penis ORPHA:1742
Proteus Syndrome
Calvarial hyperostosis, Thin bony cortex, Facial hyperostosis, Mandibular hyperostosis OMIM:176920
Griscelli Syndrome
Jaundice, Abnormal circulating lipid concentration, Bone marrow hypocellularity, Hepatomegaly, He... ORPHA:381
Kniest Dysplasia
Hip dislocation, Dumbbell-shaped femur, Genu varum, Abnormal cartilage collagen, Flattened, squar... OMIM:156550
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Acromesomelic Dysplasia 2C
Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia of the radius, Short tibia, Abnor... OMIM:201250
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Cryptorchidism, Small for gestational age, Bifid uvula, Pyloric stenosis, Truncal ob... ORPHA:96184
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Bardet-Biedl Syndrome 21
Abnormality of the dentition, Overweight, Horseshoe kidney, Elevated hepatic transaminase, Postax... OMIM:617406
Alpha-1-Antitrypsin Deficiency
Hepatitis, Jaundice, Hepatic failure, Hepatomegaly ORPHA:60
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Tapered finger, Long philtrum, Thin vermilion border, 2-3 toe syndactyly, Increas... ORPHA:589905
Graft Versus Host Disease
Hepatosplenomegaly, Gastrointestinal inflammation, Acute hepatitis, Jaundice, Inflammatory abnorm... ORPHA:39812
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Flattened epiphysis, Ulnar bowing, Coxa vara, Flared iliac wing,... OMIM:602111
15Q24 Microdeletion Syndrome
Proximal placement of thumb, Narrow mouth, Intestinal atresia, Smooth philtrum, Thick lower lip v... ORPHA:94065
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short finger, Abnormal calcification of the carpal bones, Triangular shaped distal phalanges of t... OMIM:271665
Short Syndrome
Lipodystrophy, Inguinal hernia, Lipoatrophy, Absence of subcutaneous fat, Hyperglycemia, Glucose ... OMIM:269880
Acromesomelic Dysplasia 2A
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Aplasia/Hypoplas... OMIM:200700
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Ulnar deviation of finger, Truncal obesity, Brachydactyly, Furrowed tong... ORPHA:2928
Whipple Disease
Myocarditis, Uveitis, Hepatomegaly, Hyponatremia, Arthritis, Infectious encephalitis, Insulin res... ORPHA:3452
Sarcoidosis, Susceptibility To, 1
Clubbing, Inflammation of the large intestine, Abnormal salivary gland morphology, Hepatomegaly, ... OMIM:181000
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Cryptorchidism, Small for gestational age, Abdominal obesity, Increase... OMIM:300869
Osebold-Remondini Syndrome
Type A brachydactyly, Hypoplasia of the radius, Short tibia, Broad toe, Broad finger, Short toe, ... OMIM:112910
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Hyperinsulinemia, Insulin resistance, Rhinitis, Hypoglycemia, Elev... ORPHA:230
Leri-Weill Dyschondrosteosis
Abnormality of the humerus, Abnormal metatarsal morphology, Abnormal carpal morphology, Short tib... OMIM:127300
Bare Lymphocyte Syndrome, Type Ii
Biliary tract abnormality, Cholangitis, Cutaneous anergy, Colitis, Infectious encephalitis, Panhy... OMIM:209920
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, High, narrow palate, Brachydactyly, Small hand, Thin upper lip vermilion, Short foot, Cl... ORPHA:444002
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Hypogonadism, Neonatal hyperbilirubinemia, Insulin resistance ORPHA:73272
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Wilson Disease
Acute hepatic failure, Acute hepatitis, Jaundice, Proximal muscle weakness in lower limbs, Hepato... ORPHA:905
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Bifid uvula, Cleft lip, Tapered finger, Cleft palate, Narrow mouth, Downturned corners of mouth, ... OMIM:618089
Familial Multiple Lipomatosis
Hyperlipidemia, Lipodystrophy, Increased adipose tissue, Insulin resistance ORPHA:199276
Schneckenbecken Dysplasia
Hypoplastic ilia, Abnormal metaphysis morphology, Increased fibular diameter, Dumbbell-shaped lon... ORPHA:3144
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interface hepatitis, Cholestatic liver disease, Inflammation of the large intestine, Granulomatou... ORPHA:562639
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Short tibia, Syndactyly, Fibular aplasia, Hand oligodactyly, Tibial bowing OMIM:246570
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Jaundice, Cholestatic liver disease, Nephrogenic diabetes insipidus, Elevated hepatic transaminas... OMIM:208085
Coach Syndrome 2
Portal fibrosis, Congenital hepatic fibrosis, Hepatic fibrosis, Elevated circulating creatinine c... OMIM:619111
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Hip dysplasia, Wide distal femoral metaphysis, Short femur, Short femoral neck, Hy... OMIM:619598
Temple Syndrome
Small for gestational age, Cryptorchidism, Bifid uvula, Obesity, Decreased response to growth hor... ORPHA:254516
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna, Abnormali... ORPHA:2019
Abnormality of the hepatic vasculature, Thrombocytopenia, Elevated circulating creatinine concent... ORPHA:275555
Non Rare In Europe: Central Precocious Puberty
Obesity, Overgrowth, Increased body weight ORPHA:759
Bile Acid Synthesis Defect, Congenital, 4
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Hepatome... OMIM:214950
Prader-Willi Syndrome Due To Imprinting Mutation
Abnormal ulnar metaphysis morphology, Short foot, Small hand, Obesity ORPHA:177910
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... ORPHA:766
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Postprandial hyperglycemia, Elevated hepatic transaminase, Hyperlipidemia, Ketotic hy... ORPHA:2089
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypogonadism, Obesity ORPHA:141333
Rhizomelic Limb Shortening With Dysmorphic Features
Clinodactyly of the 3rd finger, Stage 1 chronic kidney disease, Short thumb, Short 5th finger, Pr... OMIM:618821
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Abnormality of the ureter, Arachnodactyly, Sandal gap, Genu valgum, Obesity ORPHA:1035
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Crowded maxillary incisors, Cone-shaped epip... ORPHA:397973
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short finger, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphyseal widening, Short metacar... OMIM:608940
Leptin Deficiency Or Dysfunction
Hypogonadism, Primary amenorrhea, Obesity OMIM:614962
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Micropenis, Obesity, Toe syndactyly, Radioulnar synostosis, Short palm, Thin verm... ORPHA:171839
Temple Syndrome
High palate, Cryptorchidism, Decreased testicular size, Overweight, Bifid uvula, Small for gestat... OMIM:616222
Multicentric Osteolysis, Nodulosis, And Arthropathy
Interphalangeal joint contracture of finger, Thin bony cortex, Broad metatarsal, Camptodactyly of... OMIM:259600
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Flat acetabular roof, Advanced ossification of carpal bones, Metaphyseal striations, Irregular ep... OMIM:610442
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Broad long bones, Crumpled long bones, Absent ossification of calvaria... OMIM:166210
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Cholestasis, Cholesterol gallstones, Hepatitis, Hypertri... ORPHA:209902
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Chronic active hepatitis, Recurrent sinusitis OMIM:614379
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Hepatomegaly, Reduced natural killer cell activity, Increased circulating Ig... OMIM:308240
Chung-Jansen Syndrome
High palate, Cryptorchidism, Hip dysplasia, Obesity, Tapered finger, Long philtrum, Thin vermilio... OMIM:617991
Cantu Syndrome
Metaphyseal widening, Osteoporosis, Coxa valga, Erlenmeyer flask deformity of the femurs, Hypopla... OMIM:239850
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia, Episodic hypokalemia, Abnormal muscle fiber m... ORPHA:681
Pde4D Haploinsufficiency Syndrome
Elevated circulating parathyroid hormone level, Short metatarsal, Short toe, Short phalanx of fin... ORPHA:439822
Microtriplication 11Q24.1
Irregularly spaced teeth, Obesity, Cleft palate, Metatarsus adductus, Smooth philtrum, Small hand... ORPHA:289522
Baralle-Macken Syndrome
Obesity, Urinary incontinence, High, narrow palate, Tapered finger OMIM:619255
Igg4-Related Submandibular Gland Disease
Cholangitis, Abnormality of the submandibular glands, Abnormality of the kidney, Abnormal salivar... ORPHA:449432
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Short tibia, Small finger, Flared iliac wing, Radial bowing, Hypo... OMIM:607778
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... OMIM:616860
Bardet-Biedl Syndrome 8
Renal dysplasia, Hypospadias, Obesity, Postaxial polydactyly OMIM:615985
Distal 16P11.2 Microdeletion Syndrome
Proteinuria, Abnormality of the kidney, Vesicoureteral reflux, Chronic kidney disease, Aganglioni... ORPHA:261222
X-Linked Intellectual Disability, Stevenson Type
Microdontia, Tapered finger, Tented upper lip vermilion, Tall stature, Genu valgum, Obesity ORPHA:85325
Myasthenia Gravis
Glycosuria, Hashimoto thyroiditis, Hyperthyroidism, Hepatitis, Abnormality of the thymus, Rheumat... ORPHA:589
Wilson Disease
Hypouricemia, Hypoparathyroidism, Hepatomegaly, Osteoarthritis, Acute hepatic failure, Elevated c... OMIM:277900
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Delayed puberty, Abnormal circulating interferon-gamma concentration, Inflamm... ORPHA:391487
Mccune-Albright Syndrome
Goiter, Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increas... ORPHA:562
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Generalized lipodystrophy, Hyperlipidemia, Insulin resistance, Calcinosis ORPHA:90154
Hepatic Veno-Occlusive Disease
Jaundice, Renal insufficiency, Hepatomegaly, Elevated hepatic transaminase, Increased body weight ORPHA:890
Glycogen Storage Disease Ixa1
Hyperuricemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Pseudohypoparathyroidism, Type Ia
Short finger, Obesity, Osteoporosis, Short metatarsal, Short metacarpal, Subcutaneous ossificatio... OMIM:103580
Acromesomelic Dysplasia, Grebe Type
Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia invo... ORPHA:2098
Oxoglutaric Aciduria
Abnormal urine alpha-ketoglutarate concentration, Abnormal salivary gland morphology ORPHA:31
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu varum, Metaphyseal cupping, Metaphyseal widening, Obesity, Short long bone, Metaphyseal irre... OMIM:250420
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Hyperbilirubinemia, Increased serum bile acid concentra... OMIM:616278
Grant Syndrome
Down-sloping shoulders, Tibial bowing OMIM:138930
Lung abscess, Liver abscess, Abnormal parotid gland morphology, Respiratory tract infection, Paro... ORPHA:31202
Lacrimoauriculodentodigital Syndrome
Short thumb, Bifid uvula, Toe syndactyly, Carious teeth, Hypoplasia of the radius, Lacrimal gland... ORPHA:2363
48,Xxyy Syndrome
Recurrent respiratory infections, Decreased testicular size, Cryptorchidism, Hip dysplasia, Obesi... ORPHA:10
Igg4-Related Kidney Disease
Pleuritis, Enlarged kidney, Urethritis, Abnormality of mesentery morphology, Albuminuria, Decreas... ORPHA:449395
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metatarsal, Short metacarpal, Deformed humeral heads, Coxa vara, Brachydactyly OMIM:601438
Increased circulating IgE level, Hepatitis, Sinusitis, Infectious encephalitis, Bronchiectasis, O... ORPHA:1163
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Elevated circulating creatinine concentration OMIM:616733
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Hyperammonemia, Hepatomegaly, Hyperornithinemia, Decreased liver function OMIM:238970
Fasting hypoglycemia, Hyperaldosteronism, Increased circulating renin level, Central hypothyroidi... ORPHA:508
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... ORPHA:931
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612924
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Short 4th metacarpal, High, narrow palate ORPHA:2183
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short distal phalanx of finger, Truncal obesity, Proximal femoral epiphysiolysis, Radial bowing, ... OMIM:210720
Avian Influenza
Rhabdomyolysis, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concen... ORPHA:454836
Short Syndrome
Lipodystrophy, Inguinal hernia, Diabetes mellitus, Insulin resistance, Abnormal dental enamel mor... ORPHA:3163
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Diabetes mellitus, Cholestasis, Hyperglycemia, Hyperbilirubinemia, Biliary... OMIM:615710
Hemochromatosis, Type 1
Hepatocellular carcinoma, Testicular atrophy, Diabetes mellitus, Hepatomegaly, Elevated hepatic t... OMIM:235200
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Colitis, Hepatomegaly, Gastritis, Increase... ORPHA:3261
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Osteogenesis Imperfecta, Type Viii
Wide anterior fontanel, Short metacarpal, Osteopenia, Slender long bone, Decreased calvarial ossi... OMIM:610915
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Enteroviral hepatitis, Decreased response to growth hormone stimulation test, Si... OMIM:307200
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Large for gestational age, Absent... ORPHA:226313
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Decreased circulating ACTH level, Hyperglycemia, Macronodul... OMIM:615954
Osteogenesis Imperfecta, Type Iii
Severe generalized osteoporosis, Wide anterior fontanel, Slender long bone, Protrusio acetabuli, ... OMIM:259420
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612926
Legionnaires Disease
Myocarditis, Jaundice, Endocarditis, Pancreatitis, Bone marrow hypocellularity, Hyponatremia, Hep... ORPHA:549
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Skin rash, Decreased circulating beta-2-microglobulin level, Decreased circul... ORPHA:572
Otospondylomegaepiphyseal Dysplasia
Abnormal iliac wing morphology, Abnormal long bone morphology, Dumbbell-shaped femur, Flared femo... ORPHA:1427
Desbuquois Dysplasia 2
Hip dislocation, Bifid uvula, Truncal obesity, Advanced ossification of carpal bones, Cleft palat... OMIM:615777
Bacterial Toxic-Shock Syndrome
Peritonitis, Myocarditis, Glomerulonephritis, Skin rash, Myositis, Arthritis, Elevated circulatin... ORPHA:36234
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Tapered finger, Tented upper lip vermilion, Long hallux, Thin upper lip vermilion, Thick lower li... OMIM:619854
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... ORPHA:401768
Solitary Fibrous Tumor
Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypoglycemia, Hypophosphatemic ri... ORPHA:2126
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis, Enamel hypoplasia ORPHA:363523
Bloom Syndrome
Decreased circulating total IgM, Adipose tissue loss, Skin rash, Diabetes mellitus, Cheilitis, Uv... ORPHA:125
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine OMIM:617744
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Obesity, Renal insufficiency, Tru... OMIM:615986
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Obesity, Short metatarsal, Pseudohypoparathyroidi... OMIM:612462
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Faciocardiomelic Syndrome
Polydactyly, Slender long bone, Osteopenia, Hypoplastic pelvis, Thin bony cortex, Large for gesta... OMIM:612731
Dent Disease
Rickets, Enlarged epiphyses, Bulging epiphyses, Osteomalacia, Delayed epiphyseal ossification, Sp... ORPHA:1652
Aromatase Deficiency
Hypergonadotropic hypogonadism, Hyperlipidemia, Type II diabetes mellitus, Hepatic steatosis, Ins... ORPHA:91
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Recurrent respiratory infections, Metaphyseal cupping, Irregular capital femoral e... OMIM:616716
Rothmund-Thomson Syndrome Type 1
Patellar aplasia, Small for gestational age, Metaphyseal sclerosis, Genu varum, Metaphyseal stria... ORPHA:221008
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Selective tooth agenesis, Hypoplastic nipples, Hydroureter, Cleft palate, Toe syndactyly, Carious... OMIM:604292
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Werner Syndrome
Lipodystrophy, Chondrocalcinosis, Hypogonadism, Lipoatrophy, Skeletal muscle atrophy, Thyroid car... ORPHA:902
X-Linked Acrogigantism
Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, Abnormality ... ORPHA:300373
Spondylometaphyseal Dysplasia, Sedaghatian Type
Metaphyseal chondrodysplasia, Short metacarpal, Short palm, Iliac crest serration, Long fibula, C... ORPHA:93317
Trichohepatoenteric Syndrome 2
Chronic hepatitis, Colitis, Hepatomegaly, Cirrhosis, Decreased serum iron OMIM:614602
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Oligodontia, Selective tooth agenesis, Hypoplastic nipples, Hydroureter, Cleft palate, Toe syndac... OMIM:129900
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration OMIM:179800
Fibrous Dysplasia Of Bone
Rickets, Patchy reduction of bone mineral density, Osteolysis, Fibrous dysplasia of the bones, Ab... ORPHA:249
Q Fever
Myocarditis, Hepatosplenomegaly, Maculopapular exanthema, Endocarditis, Abnormality of the liver,... ORPHA:781
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Interface hepatitis, Enamel hypoplasia, Omphalocele, Psoriasiform derma... OMIM:243150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612925
Spondylometaphyseal Dysplasia, Algerian Type
Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral metaphysis, Short tubu... OMIM:184253
Congenital Enterovirus Infection
Myocarditis, Hyperammonemia, Skin rash, Cholestasis, Hepatitis, Infectious encephalitis, Hepatic ... ORPHA:292
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Chromosome 16P13.3 Deletion Syndrome, Proximal
High palate, Abnormality of the kidney, Obesity, Polysplenia, Failure to thrive, Broad thumb, Bro... OMIM:610543
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Short fourth metatarsal, Obesity, Pseudohypoparathyroidism, Patellar hypoplasia, ... ORPHA:464288
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Microangiopathic hemolytic anemia, Reticulocytosis, Decreased serum creatinine ORPHA:54057
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Truncal obesity, Coxa valga, Hepatomegaly, Short clavicles, Cleft palate, Broad thumb, Short femo... ORPHA:370930
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Micropenis, Horseshoe kidney, Downturned corners of mouth, 2-3 toe syndact... OMIM:300860
Schaaf-Yang Syndrome
Abnormality of the philtrum, Camptodactyly, Cryptorchidism, Open mouth, Micropenis, Obesity, Fail... OMIM:615547
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1