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Gene: Socs2 MGI:1201787

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Gene Summary

Name:
suppressor of cytokine signaling 2
Synonyms:
D130043N08Rik,  Cish2,  STAT-induced STAT inhibitor 2,  SOCS-2,  CIS2,  SSI-2,  JAB,  cytokine-inducible SH2 protein 2

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased spleen weight Socs2em1(IMPC)H HOM   Early adult 7.57×10-05
increased circulating creatinine level Socs2em1(IMPC)H HOM Early adult 7.51×10-05
decreased grip strength Socs2em1(IMPC)H HOM Early adult 4.73×10-05

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Viewing: all phenotypes

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
phenotypes		 Matching phenotypes Source
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure 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, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... ORPHA:411593
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Eiken Syndrome
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... ORPHA:79106
Sclerosteosis
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty... ORPHA:3152
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... ORPHA:2779
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... 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
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas ORPHA:2398
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... OMIM:612526
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Thickened cortex of long bones ORPHA:53697
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... ORPHA:435660
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... ORPHA:2790
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... OMIM:615703
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating enzyme concentration or activity, Fatty replacement of skeletal muscle, Elev... ORPHA:171706
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia ORPHA:329249
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... ORPHA:75508
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue ORPHA:71529
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase c... OMIM:615980
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Summitt Syndrome
Syndactyly, Obesity, Craniosynostosis OMIM:272350
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Subperiosteal bon... OMIM:114000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemi... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, ... OMIM:606762
Hereditary Sensory And Autonomic Neuropathy Type 2
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... ORPHA:970
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid leve... ORPHA:276575
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Limb undergrowth, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal lim... ORPHA:2204
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Obesity, Type A brachydactyly, Abnormal metacarpal morphology ORPHA:1078
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Increased bone mineral density, Tibia... OMIM:166740
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Increased ... OMIM:300635
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Thin bony... OMIM:265900
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent respiratory infections, Postaxial hand polydactyly, Recurrent upper respiratory tract i... OMIM:300209
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin OMIM:617885
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Lipodystrop... ORPHA:528
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Thin bony cortex, Bowing of the legs, Delayed epiphyseal ossification, Rickets... OMIM:600081
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... OMIM:615381
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... OMIM:151660
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid... ORPHA:276556
Bardet-Biedl Syndrome 14
Renal insufficiency, Polydactyly, Obesity OMIM:615991
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Hypert... ORPHA:79083
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, Small hand, Obesity, Short foot, Short 5th finger, High palate, Clinodactyly OMIM:300577
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis, Myopathy ORPHA:79087
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Abnormal dental morphology, Tapered finger, Cryptorchidism, Obesity, Micrope... ORPHA:85274
Metatropic Dysplasia
Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Halberd-shaped pelvis, Cli... ORPHA:2635
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... ORPHA:276608
Variant Abeta2M Amyloidosis
Intestinal perforation, Chronic kidney disease, Abnormality of the tongue, Hepatic amyloidosis, R... ORPHA:314652
Bardet-Biedl Syndrome 18
Renal insufficiency, Obesity, Stage 5 chronic kidney disease, Brachydactyly OMIM:615995
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short foot, Abnormal cortical bone morphology, Upper limb undergrowth, Toe clinodactyly ORPHA:166277
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Finger joint hypermobility, Genu valgum ORPHA:436141
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased circulating IgG level, Glucose intolerance, H... ORPHA:2298
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... ORPHA:2348
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Femoral bowing, Short 5th metacarpal, Short 4th metacarpal, Broad thumb, Thin bony co... OMIM:619638
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Increased ... ORPHA:158061
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia OMIM:620195
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... ORPHA:199296
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypergonadotropic hypogonadi... ORPHA:79237
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Short foot, Cryptorchidism, Obesity, Tapered finger OMIM:309585
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Reduced bone mineral density, Slender long bone, Pseudoarthrosis, Thin ... OMIM:619795
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Insulin-re... ORPHA:79086
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Obesity, Genu valgum, Short palm, C... ORPHA:3210
Bardet-Biedl Syndrome 10
Renal insufficiency, Polydactyly, Obesity, Renal cyst OMIM:615987
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... OMIM:112350
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Gout, Increased LDL cholesterol concentration, ... OMIM:610947
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche OMIM:614662
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Thin bony cortex, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossific... OMIM:300554
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... OMIM:144750
Cranio-Osteoarthropathy
Deviation of finger, Abnormal tibia morphology, Abnormal cortical bone morphology, Clubbing of toes ORPHA:1525
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture OMIM:618856
Grant Syndrome
Bowing of the long bones, Abnormal pelvic girdle bone morphology, Abnormal cortical bone morpholo... ORPHA:2097
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Thin bony cortex, Bowing of the legs, Delayed epiphyseal ossification, Rickets... OMIM:241530
Mpi-Cdg
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hypoalb... ORPHA:79319
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finger, Short distal... ORPHA:79445
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... ORPHA:101330
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Bardet-Biedl Syndrome 5
Syndactyly, Obesity, Polydactyly, Micropenis, Brachydactyly OMIM:615983
Ck Syndrome
Abnormal cortical bone morphology, Abnormal digit morphology, Slender build OMIM:300831
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hyper... ORPHA:263455
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Obesity, Clinodactyly of the 5th toe ORPHA:99976
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney dis... OMIM:615993
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Increased intraabdominal fat, Hepatic steatosis, Muscle ... ORPHA:280365
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... ORPHA:436182
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... ORPHA:2502
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... ORPHA:293964
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low... ORPHA:93356
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Thin bony cortex, Bowing of the legs, Subperiosteal bone resorption, Delayed e... OMIM:264700
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Acromegaloid Facial Appearance Syndrome
Tapered finger, Large for gestational age, Deep philtrum, Large hands, Thick vermilion border, Sh... OMIM:102150
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Thin bony cortex, Bowing of the legs, Subperiosteal bone resorption, Delayed e... OMIM:277440
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... ORPHA:70578
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... OMIM:614921
Bardet-Biedl Syndrome 4
Syndactyly, Abnormality of the kidney, Abnormality of the dentition, Cryptorchidism, Obesity, Ren... OMIM:615982
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... OMIM:618549
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, ... OMIM:246200
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypert... OMIM:203800
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, H... ORPHA:540
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Acne, Elevated alkaline phos... OMIM:615363
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... OMIM:607634
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Short metacarpal... OMIM:300106
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma ORPHA:882
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Glomerulonephritis, Increased circulating IgE level, Hepatitis, Arthritis, Erythroderma, ... OMIM:304790
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin ORPHA:791
Lethal Congenital Contracture Syndrome Type 1
Slender long bone, Abnormal cortical bone morphology, Abnormal hip bone morphology ORPHA:1486
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Steatorrhea, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypogly... OMIM:602579
Pseudopseudohypoparathyroidism
Short metacarpal, Short metatarsal, Obesity, Osteoporosis, Brachydactyly OMIM:612463
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... OMIM:250220
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... ORPHA:85184
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive OMIM:600121
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Dent Disease 1
Bulging epiphyses, Thin bony cortex, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossific... OMIM:300009
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Obesity, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone lev... OMIM:603233
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... OMIM:248370
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:613404
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing ORPHA:2768
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating... OMIM:308230
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n... OMIM:617872
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... OMIM:608594
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus ORPHA:3085
Acrorenal Syndrome
Renal insufficiency, Abnormal morphology of ulna, Renal hypoplasia/aplasia, Abnormal tibia morpho... ORPHA:971
Narcolepsy Type 1
Obesity ORPHA:2073
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Cortisone Reductase Deficiency 1
Infertility, Obesity, Oligomenorrhea OMIM:604931
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... OMIM:610199
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density ORPHA:935
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Camptodactyly of finger, Osteoporosis, Obesity, Short foot, Abnormal diaphysis mo... ORPHA:3409
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Coxa valga, Carious teeth, Pierre-Robin sequence, Advanced ossification of carpa... OMIM:618363
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Bilateral coxa valga, Hypodontia, Obesity OMIM:620270
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:269700
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Obes... ORPHA:65759
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... ORPHA:289157
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Obesity, High palate, Abnormal metacarpal morphology, Abnormal testi... ORPHA:2233
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Camptodactyly, Type I ... OMIM:613385
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Polydactyly, Narrow mouth, Clinodactyly OMIM:615984
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Agamma... ORPHA:33110
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Large for gestational age, Median cleft palate, Hepatomegaly ORPHA:2432
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... ORPHA:37042
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epi... ORPHA:2484
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Polycystic Ovary Syndrome 1
Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Increased circulatin... ORPHA:169160
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia, Abnormality ... ORPHA:186
Estrogen Resistance Syndrome
Acne, Elevated tissue non-specific alkaline phosphatase, Increased circulating gonadotropin level... ORPHA:785
Gorham-Stout Disease
Osteopenia, Abnormal pelvis bone morphology, Osteolysis involving bones of the upper limbs, Abnor... ORPHA:73
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Tapered finger, Obesity, Oligodontia, Large hands, Everted lower lip vermilion, Anodontia ORPHA:276630
Primary Sclerosing Cholangitis
Acute hepatic failure, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Generalized amyotrophy, Neopla... ORPHA:171
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Brachydactyly, Bifid distal phalanx of the thumb, Overweight, Triangula... ORPHA:370010
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Postaxial polydactyly, Cryptorchidism, Obesity, Nephrocalcinosi... OMIM:615633
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Rickets, Trapezoidal distal femor... OMIM:307800
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Diastasis recti, Portal hypertension, Flexion contracture, Hepatitis, Cholestasi... ORPHA:440713
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu... ORPHA:1972
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Postnatal growth retardation, Acromicria, Small hand, Obesity, Short foot, Downturned corners of ... ORPHA:254525
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amy... ORPHA:85443
Shox-Related Short Stature
Obesity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, High palate, Lower limb und... ORPHA:314795
Nephronophthisis 15
Elevated hepatic transaminase, Polydactyly, Obesity, Nephronophthisis OMIM:614845
11P15.4 Microduplication Syndrome
Obesity, Large hands, Increased overbite, Long philtrum, Smooth philtrum ORPHA:300305
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... ORPHA:199299
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... OMIM:609812
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... OMIM:251450
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Primary adrenal insufficiency,... ORPHA:227990
Essential Fructosuria
Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or activity, Hypergl... ORPHA:2056
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... ORPHA:769
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Obesity, Genu valgum... OMIM:300602
Metaphyseal Chondrodysplasia, Schmid Type
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... OMIM:156500
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Iridocyclitis,... ORPHA:227982
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Mehmo Syndrome
Hypoplasia of penis, Tapered finger, Cryptorchidism, Obesity, Downturned corners of mouth, Thick ... ORPHA:85282
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hyperammonemia ORPHA:664
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger OMIM:618725
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Cholelithi... OMIM:240300
Intellectual Developmental Disorder, X-Linked 108
Clinodactyly of the 5th finger, Thin upper lip vermilion, Overweight, Long philtrum OMIM:301024
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Bowing of the long bones, Generalized osteoporosis, Femoral bowing OMIM:617952
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... OMIM:611182
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal fibula morpholog... ORPHA:3035
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Senior-Loken Syndrome 9
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointer... OMIM:616629
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... ORPHA:289176
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Proximal amyotrophy, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Congenital hepatic f... ORPHA:2377
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Epiphyseal stippling, Small for gestational age, Increased body weight OMIM:274300
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hyp... ORPHA:465508
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Clark-Baraitser Syndrome
Thin upper lip vermilion, Sandal gap, Exaggerated cupid's bow, Obesity, Downturned corners of mou... OMIM:617752
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... OMIM:615207
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Truncal obesity,... ORPHA:2928
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Fanconi-Bickel Syndrome
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Elevated circu... ORPHA:2088
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Tapered finger, Hip dislocation, Obesity, Delayed ossification of carpal ... OMIM:618395
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... ORPHA:79493
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cholangitis, Portal hypertension, Hypersplenism, Thyroiditis, Hepatitis, H... ORPHA:228426
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Obesity, Cone-shaped e... OMIM:614613
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Postaxial hand polydactyly, Chronic kidney disease, Obesity, Cone-sha... OMIM:615630
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Kniest Dysplasia
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Flared m... OMIM:156550
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Cryptorchidism, Short toe, Obe... OMIM:301900
Acute Lung Injury
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Elevated circul... ORPHA:178320
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Hallux valgus, Cone-shaped epiphysis, Dental crowding, Obesity OMIM:606772
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Increased T3/T4... OMIM:614450
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly, Obesity, Large for gestational age OMIM:617119
Microduplication Xp11.22P11.23 Syndrome
Toe syndactyly, Obesity ORPHA:217377
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Hypoplasia of the musculature, Hepatocellular carcinoma, H... ORPHA:231226
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific... OMIM:271665
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Small hand, Obesity, Short foot, High palate, Short philtrum, Clino... ORPHA:254531
Trisomy 5P
Renal hypoplasia/aplasia, Hypoplasia of penis, Obesity, Abnormal metacarpal morphology ORPHA:1742
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac... ORPHA:829
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Proteus Syndrome
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... ORPHA:2019
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Abnormality of iron homeost... ORPHA:848
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Recurrent pneumonia, Flexion contracture, Elbow flexion contracture, Knee fle... OMIM:214150
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... OMIM:619598
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc... ORPHA:90301
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Decreased circulating antibody level, Bone marro... ORPHA:381
Bardet-Biedl Syndrome 21
Elevated hepatic transaminase, Abnormality of the dentition, Overweight, Postaxial hand polydacty... OMIM:617406
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Postnatal growth retardation, Cryptorchidism, Pyloric stenosis, Small ... ORPHA:96184
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Graft Versus Host Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Fasciitis, Myositis, Maculopapular exanth... ORPHA:39812
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Tapered finger, Cryptorchidism, Recurrent upper respiratory tract infections, 2-3 toe syndactyly,... ORPHA:589905
Short Syndrome
Inguinal hernia, Lipodystrophy, Lipoatrophy, Insulin resistance, Absence of subcutaneous fat, Ins... OMIM:269880
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Microphallus,... ORPHA:94065
11Q22.2Q22.3 Microdeletion Syndrome
Thin upper lip vermilion, High, narrow palate, Small hand, Obesity, Short foot, Clinodactyly of t... ORPHA:444002
Bardet-Biedl Syndrome 19
Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Renal hypoplasia, Obesity... OMIM:615996
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Rhizomelia, Short thumb, Obesity, Short 5th finger, Clin... OMIM:618821
Leptin Deficiency Or Dysfunction
Decreased testicular size, Hypogonadism, Obesity, Primary amenorrhea OMIM:614962
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Agamm... OMIM:209920
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... ORPHA:230
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Micromelia, Abnormality of the ureter, Obesity, Genu valgum, High palate ORPHA:1035
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Splenomegaly, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology,... OMIM:181000
Whipple Disease
Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Splenomegaly, Insulin resistance, Myocarditis... ORPHA:3452
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Absent ossification of calvaria... OMIM:166210
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Sandal gap, Tapered finger, Cleft lip, Narrow mouth, Small hand, Obesity, Cleft palate, Short foo... OMIM:618089
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Obesity ORPHA:3055
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue ORPHA:199276
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar... OMIM:608940
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Granuloma... ORPHA:562639
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia ORPHA:73272
Coach Syndrome 2
Congenital hepatic fibrosis, Portal fibrosis, Elevated circulating creatinine concentration, Hepa... OMIM:619111
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan... OMIM:208085
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Small hand, ... OMIM:300869
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 4th toe, Crowded maxillary incisors, Obesity, Cone-sh... ORPHA:397973
Chung-Jansen Syndrome
Tapered finger, Cryptorchidism, Obesity, Hip dysplasia, Thin vermilion border, High palate, Short... OMIM:617991
Prader-Willi Syndrome Due To Imprinting Mutation
Short foot, Abnormal ulnar metaphysis morphology, Small hand, Obesity ORPHA:177910
X-Linked Intellectual Disability, Stevenson Type
Tented upper lip vermilion, Tapered finger, Obesity, Genu valgum, Large hands, Microdontia, Tall ... ORPHA:85325
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration, Abnormality of the hepatic vascu... ORPHA:275555
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Postnatal growt... ORPHA:254516
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Adiposis Dolorosa
Obesity OMIM:103200
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... ORPHA:2089
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... OMIM:610442
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Broad metacarpals,... OMIM:259600
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia OMIM:614379
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Cryptorchidism, Renal hypo... ORPHA:171839
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduce... OMIM:308240
Cantu Syndrome
Broad hallux, Short hallux, Coxa valga, Large for gestational age, Metaphyseal widening, Broad fi... OMIM:239850
Temple Syndrome
Decreased testicular size, Small for gestational age, Overweight, Cryptorchidism, Small hand, Obe... OMIM:616222
Microtriplication 11Q24.1
Metatarsus adductus, Small hand, Obesity, Cleft palate, Genu valgum, Short foot, Irregularly spac... ORPHA:289522
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity ORPHA:141333
Spastic Paraplegia 47, Autosomal Recessive
Overweight, Wide mouth, High palate, Talipes equinovarus, Short philtrum, Acetabular dysplasia OMIM:614066
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Cholangitis, Abnormality of the kidney, Retroperitoneal fibrosis, Xerostomia... ORPHA:449432
Baralle-Macken Syndrome
High, narrow palate, Obesity, Urinary incontinence, Tapered finger OMIM:619255
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Abnormal muscle fiber morphology, Adrenocortical adenoma, Increased intramy... ORPHA:681
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Abnormality of the kidney, Arachnodactyly, Renal agenesis, Proteinuria, Ch... ORPHA:261222
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... OMIM:277900
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer... ORPHA:449395
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... OMIM:616860
Bardet-Biedl Syndrome 8
Hypospadias, Renal dysplasia, Postaxial polydactyly, Obesity OMIM:615985
Pde4D Haploinsufficiency Syndrome
Short metatarsal, Elevated circulating parathyroid hormone level, Short philtrum, Bilateral coxa ... ORPHA:439822
Mccune-Albright Syndrome
Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious puberty, Abnormali... ORPHA:562
Myasthenia Gravis
Myositis, Hyperthyroidism, Primary adrenal insufficiency, Hepatitis, Abnormal thymus morphology, ... ORPHA:589
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Abnormality of the endocrine system, Thyroiditis, H... ORPHA:391487
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight ORPHA:890
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy, Delayed puberty ORPHA:90154
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short toe, Short metatarsal, Osteoporosis, Obesity, Subcutaneous ossification, ... OMIM:103580
48,Xxyy Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Hypoplasia of penis, Abnormal dental... ORPHA:10
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Short 4th metacarpal, Obesity ORPHA:2183
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... OMIM:250420
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration ORPHA:31
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Melioidosis
Lung abscess, Liver abscess, Pneumonia, Respiratory tract infection, Abnormality of the spleen, H... ORPHA:31202
Grant Syndrome
Down-sloping shoulders, Tibial bowing OMIM:138930
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight OMIM:620065
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis OMIM:238970
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o... ORPHA:1427
Avian Influenza
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:454836
Lacrimoauriculodentodigital Syndrome
Xerostomia, Orofacial cleft, Microdontia, Vesicoureteral reflux, Abnormal salivary gland morpholo... ORPHA:2363
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... ORPHA:1163
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Elevated circulating creatinine concentration OMIM:616733
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, In... OMIM:235200
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Skeletal muscle atrophy, Insulin resistance, H... ORPHA:508
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... OMIM:307200
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Microdontia, Ra... OMIM:210720
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat... ORPHA:226313
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st... OMIM:615710
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Elevated circulating thyroid-stimulating hormone con... OMIM:612462
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Osteogenesis Imperfecta, Type Viii
Osteopenia, Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontanel, Tibial... OMIM:610915
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Decreased circulating IgG l... ORPHA:3261
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Severe generalized osteoporosis, Wide anterior fontanel, Tibial bowing, Slen... OMIM:259420
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Acute otitis media, Lack of T cell function, Decreased circulating antibody... ORPHA:572
Bloom Syndrome
Diabetes mellitus, Skin rash, Pneumonia, Adipose tissue loss, Insulin resistance, Cheilitis, Uvei... ORPHA:125
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... ORPHA:93317
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Swan neck-like deformities of the fingers, Recurrent respiratory infections, Coxa ... OMIM:616716
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Desbuquois Dysplasia 2
Dental crowding, Metaphyseal widening, Short phalanx of finger, Bifid uvula, Genu varum, Short me... OMIM:615777
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Increased variab... ORPHA:401768
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Pneumonia, Os... ORPHA:36234
Osteogenesis Imperfecta, Type X
Osteopenia, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Genu valgum, Tibial bo... OMIM:613848
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Neoplasm of the liver, Rec... ORPHA:2126
Legionnaires Disease
Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Bone ma... ORPHA:549
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Hepatitis ORPHA:363523
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Tapered finger, Thick lower lip vermilion, ... OMIM:619854
Bardet-Biedl Syndrome 9
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Post... OMIM:615986
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Small for gestational age, Met... ORPHA:221008
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Faciocardiomelic Syndrome
Osteopenia, Large for gestational age, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin b... OMIM:612731
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... OMIM:223800
Chromosome 16P13.3 Deletion Syndrome, Proximal
Broad hallux, Abnormality of the kidney, Obesity, High palate, Polysplenia, Clinodactyly of the 5... OMIM:610543
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Bowing of the legs, Delaye... ORPHA:1652
Aromatase Deficiency
Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Type II diabetes mellitus, He... ORPHA:91
Werner Syndrome
Skeletal muscle atrophy, Lipodystrophy, Lipoatrophy, Insulin resistance, Hypogonadism, Thyroid ca... ORPHA:902
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Hypoplasia of the radius, Short femoral neck, Rudimentary ... OMIM:249700
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:604292
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Trichohepatoenteric Syndrome 2
Hepatomegaly, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis OMIM:614602
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:129900
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... ORPHA:781
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Psoriasiform dermatitis, Enterocolitis, Decreased circulating antibody level, Agamma... OMIM:243150
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Small for gestational age, Apl... ORPHA:221016
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Thi... ORPHA:249
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Momo Syndrome
Large for gestational age, Obesity, Femoral bowing, Large hands, Short sternum, Overgrowth, Abnor... ORPHA:2563
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Xylt1-Cdg
Hepatomegaly, Coxa valga, Flared metaphysis, Cleft palate, Truncal obesity, Short long bone, Thic... ORPHA:370930
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Broad hallux, 2-3 toe syndactyly, Horseshoe kidney, Increased body weight, Short foot, Downturned... OMIM:300860
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Cryptorchidism, Gingival overgrowth, Patellar hypoplasia, Pseudohypopara... ORPHA:464288
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,... ORPHA:139402
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... OMIM:211350
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Congenital Enterovirus Infection
Skin rash, Myocarditis, Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatic failure,... ORPHA:292
Placental Insufficiency
Insulin resistance ORPHA:439167
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Bardet-Biedl Syndrome 3
Obesity, Renal hypoplasia, Postaxial polydactyly, Brachydactyly OMIM:600151
Schaaf-Yang Syndrome
Abnormality of the philtrum, Rocker bottom foot, Failure to thrive in infancy, Tapered finger, Cr... OMIM:615547
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
High, narrow palate, Split hand, Obesity OMIM:618124
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis OMIM:612301
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Hypoa... OMIM:608104
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... OMIM:613091
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Rothmund-Thomson Syndrome
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Small for gestational ag... ORPHA:2909
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... OMIM:149730
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... ORPHA:352540
Pachydermoperiostosis
Osteoporosis, Small hand, Clubbing of toes, Osteolysis, Abnormal epiphysis morphology, Abnormal c... ORPHA:2796
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:606721
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... OMIM:613095
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
48,Xxxy Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Hypoplasia of penis, Renal dysplasia... ORPHA:96263
Monosomy 13Q34
Insulin resistance, Hepatic steatosis, Hypercalcemia ORPHA:96168
Smith-Magenis Syndrome
Everted upper lip vermilion, Abnormality of the dentition, Velopharyngeal insufficiency, Abnormal... OMIM:182290
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Hip dysplasia, Cranial hyperostosis ORPHA:457240
Achondroplasia
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Wide anterior fontanel, Short proximal p... ORPHA:15
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Combined Oxidative Phosphorylation Deficiency 54
Retrobulbar optic neuritis, Hyperglycemia, Hypergonadotropic hypogonadism, Lower limb muscle weak... OMIM:619737
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... ORPHA:3243
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme... ORPHA:2831
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Insulin resistance, Abnormal circulating lipid concentration,... OMIM:616541
Laurence-Moon Syndrome
Micropenis, Polydactyly, Obesity OMIM:245800
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Decreased testicular ... OMIM:610628
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Abnormal cortical bone morphology, Decreased body weight OMIM:614886
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... OMIM:300755
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Delayed puberty, Hypermagnesemia... ORPHA:358
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/H... ORPHA:2491
Stüve-Wiedemann Syndrome
Osteopenia, Bowing of the long bones, Camptodactyly of finger, Micromelia, Metaphyseal widening, ... ORPHA:3206
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal dental morpholog... ORPHA:2878
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t... ORPHA:3138
Bardet-Biedl Syndrome 2
Postaxial foot polydactyly, Postaxial hand polydactyly, Obesity OMIM:615981
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, Ch... OMIM:194380
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Spina bifida o... OMIM:201000
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... ORPHA:3464
Silver-Russell Syndrome
Decreased muscle mass, Precocious puberty, Insulin resistance, Recurrent hypoglycemia, Premature ... ORPHA:813
Adrenocortical Carcinoma
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:1501
Blue Diaper Syndrome
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In... ORPHA:94086
Benign Schwannoma
Intestinal polyposis, Abnormal fibula morphology, Abnormality of the liver, Abnormal parotid glan... ORPHA:252164
Ebola Hemorrhagic Fever
Acute pancreatitis, Increased circulating antibody level, Hepatitis, Maculopapular exanthema ORPHA:319218
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h... OMIM:615994
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Type I diabetes mellit... ORPHA:436252
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Abnormal muscle fiber morphology, Camptodactyly of toe, Umbilical hernia, Hyperg... OMIM:175700
Microphthalmia With Limb Anomalies
Failure to thrive, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndacty... OMIM:206920
Atelosteogenesis, Type Iii
Radial bowing, Sandal gap, Rhizomelia, Tombstone-shaped proximal phalanges, Widened distal phalan... OMIM:108721
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Acne, Paradoxical increased cortisol secreti... ORPHA:189427
Gm1-Gangliosidosis, Type Ii
Limb undergrowth, Failure to thrive, Thin bony cortex, Coxa valga OMIM:230600
Atypical Werner Syndrome
Hepatic steatosis, Skeletal muscle atrophy, Hypertriglyceridemia, Diabetes mellitus, Lipoatrophy,... ORPHA:79474
Aicardi-Goutieres Syndrome 7
Hepatic steatosis, Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Increased ... OMIM:615846
Multiple Synostoses Syndrome 1
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Short philtrum, L... OMIM:186500
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Cryptorchidism, Flared m... OMIM:602471
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia OMIM:615453
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Omodysplasia 2
Short humerus, Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Cryptorchidism, Fibu... OMIM:164745
Acheiropody
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... OMIM:200500
Autosomal Dominant Omodysplasia
Short humerus, Hypoplasia of penis, Rhizomelia, Cryptorchidism, Short palm, Short 1st metacarpal,... ORPHA:93328
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly ORPHA:79292
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... OMIM:209900
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Enlarged kidney OMIM:602088
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... ORPHA:2710
13Q12.3 Microdeletion Syndrome
Recurrent respiratory infections, Thin upper lip vermilion, Cryptorchidism, Obesity, Hip dysplasi... ORPHA:412035
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Decreased fertility, Obesity, Hypogonadism, Decreased testicular size ORPHA:2234
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... ORPHA:567983
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... ORPHA:261529
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... OMIM:227810
Joubert Syndrome 32
Postaxial foot polydactyly, Postaxial hand polydactyly, Tall stature, Large for gestational age OMIM:617757
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Ketonuria, Large for gestational age, Aminoaciduria, High palate, Failure to thrive OMIM:614520
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chroni... ORPHA:83471
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Postaxial h... ORPHA:110
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong... OMIM:274150
Bardet-Biedl Syndrome 6
Syndactyly, Hypospadias, Postaxial polydactyly, Obesity, Renal cyst OMIM:605231
Joubert Syndrome 37
Hepatomegaly, Postaxial polydactyly, Cryptorchidism, Obesity, Hydronephrosis, High palate, Microp... OMIM:619185
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... ORPHA:64744
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... ORPHA:91139
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Obesity, Cleft palate, Short philtrum, Increased serum testosterone level, Abnorm... ORPHA:247768
Retinitis Pigmentosa 51
Polydactyly, Abnormality of the kidney, Obesity OMIM:613464
Zygomycosis
Fasciitis, Diabetes mellitus, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonit... ORPHA:73263
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, Obesity ORPHA:363741
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... ORPHA:2552
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders,... ORPHA:85293
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, ... ORPHA:2769
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy... ORPHA:273
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, H... ORPHA:140
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... ORPHA:2658
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Increased circulating IgG... ORPHA:319251
Muir-Torre Syndrome
Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma ... ORPHA:587
Perrault Syndrome 4
Premature ovarian insufficiency, Obesity, Secondary amenorrhea, Primary amenorrhea, Disproportion... OMIM:615300
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Thin upper lip vermilion, Short femur, Sandal gap, Rhizomelia, Hypospadias, Small ... OMIM:607143
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... ORPHA:93322
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ... OMIM:314390
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Thin upper lip vermilion, Macrodontia, Small hand, Obesity, Genu valgum, Short foot... OMIM:618443
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Abnormality of the dentition, Large for g... OMIM:615398
Frank-Ter Haar Syndrome
Short palm, Osteopenia, Bowing of the long bones, Metatarsus adductus, Wide anterior fontanel, Fl... OMIM:249420
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... OMIM:608836
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Rhizomelia, Large for gestational age, Short proximal phalanx of finger... OMIM:616638
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Avascular necrosis of the capital femoral epiphysis, Upper limb undergrowth, C... ORPHA:93315
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Obesity, Bilateral breast hypoplasia, Severe postnatal growth retarda... ORPHA:319675
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti... ORPHA:91138
Kleefstra Syndrome 1
Recurrent respiratory infections, Natal tooth, Hypospadias, Persistence of primary teeth, Protrud... OMIM:610253
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Tapered finger, Obesity, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thick ve... OMIM:620250
Cranioectodermal Dysplasia 1
High, narrow palate, Tubulointerstitial nephritis, Hepatic fibrosis, High palate, Widely spaced t... OMIM:218330
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Down Syndrome
Sandal gap, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Renal hypopla... ORPHA:870
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Xerostomia, Enlarged lacrimal glands, Weight loss, Enlargement of parot... ORPHA:79078
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Multicystic kidney dysplasia, Supernumerary ... ORPHA:1001
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly ... OMIM:619269
Ataxia-Oculomotor Apraxia Type 4
Abnormal toe morphology, Obesity ORPHA:459033
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Atkin-Flaitz Syndrome
Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Macro... ORPHA:1193
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Osteoporosis, Tibial bowing, Femoral bowing,... OMIM:231070
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased muscle mass, Decreased response to growth hormone stimulation test, Precocious puberty,... ORPHA:96182
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Spondyloocular Syndrome
Long toe, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Long fingers, Decreased bo... OMIM:605822
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Elevated circulating creatinine concentration OMIM:614376
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ... ORPHA:1106
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal dental enamel morphology, Obesity, High palate, Brachydactyly ORPHA:2180
Ulnar-Mammary Syndrome
Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m... OMIM:181450
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Bowed humerus, Recurrent pneumonia, Bilateral talipes equinovaru... OMIM:609465
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... ORPHA:48435
Stuve-Wiedemann Syndrome 1
Brachydactyly, Bowing of the long bones, Adducted thumb, Clubbing, Abnormal metaphyseal trabecula... OMIM:601559
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... OMIM:616030
Prader-Willi Syndrome
Decreased muscle mass, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul... OMIM:176270
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancre... OMIM:619991
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Tall stature, Long fingers, Osteoporosis, Talipes equino... OMIM:309583
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Osteoporosis, Increased body weight OMIM:615830
Sotos Syndrome
Abnormality of the kidney, High, narrow palate, Cryptorchidism, Long metacarpals, Increased body ... OMIM:117550
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Decreased circulating total IgG, Pneumonia, Elevated circulating C-reactive protei... OMIM:619381
Lichen Planopilaris
Hepatitis ORPHA:525
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Large hands, ... OMIM:157980
Acute Liver Failure
Elevated hepatic transaminase, Hypoglycemia, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, He... ORPHA:90062
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg... OMIM:609069
Subaortic Stenosis-Short Stature Syndrome
Microdontia, Biliary tract abnormality, Obesity, Synostosis of carpal bones ORPHA:3191
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Bladder trabeculation,... OMIM:614080
Luscan-Lumish Syndrome
Overgrowth, Advanced ossification of carpal bones, Obesity OMIM:616831
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Decreased response to growth hormone stimulation test, Hypothyroidism, Hepa... ORPHA:1855
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Aplasia/Hypoplasia of the tongue, Tapered finger, ... ORPHA:193
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Sandal gap, Hypospadias, Cryptorchidism, Obesity, Cleft palate, Th... ORPHA:254346
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Left ventricular hypertrophy, Hypercholesterolemia, Hyperglycemia, Hypothyroidism ORPHA:90065
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thin bony cortex, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull b... OMIM:619727
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrine pancreatic insuff... OMIM:260370
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Abnormality of the kidney, Abnormality of the dentition, Tapered finger, Large for g... ORPHA:261652
Weill-Marchesani Syndrome 1
Broad metatarsal, Broad phalanges of the hand, Broad metacarpals, Thin bony cortex, Brachydactyly OMIM:277600
Thalidomide Embryopathy
Insulin resistance, Chronic rhinitis ORPHA:3312
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... OMIM:612576
Pycnodysostosis
Decreased response to growth hormone stimulation test, High palate, Hypoplastic iliac wing, Rhizo... ORPHA:763
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Rhizomelia, Flared metaphysis,... OMIM:618019
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Bowing of the long bones, Abnormally ossified vertebrae, Abnormal distal p... ORPHA:175
Bent Bone Dysplasia Syndrome 2
Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short ste... OMIM:620076
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Short humerus, Bowing of the long bones, Hypercalciuria,... OMIM:239000
Gaucher Disease
Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Splenomegaly,... ORPHA:355
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Obesity, Enuresis nocturna... OMIM:619680
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea... ORPHA:415
Igg4-Related Ophthalmic Disease
Cholangitis, Abnormality of the kidney, Orchitis, Retroperitoneal fibrosis, Abnormal lung morphol... ORPHA:449563
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Peritonitis, Abnormal glucose homeostasis ORPHA:391673
Acro-Renal-Ocular Syndrome
Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall... ORPHA:959
Atelosteogenesis, Type I
Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Short femur, Brachyda... OMIM:108720
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Metaphyseal chondrodysplasia, Fibular bowing, Femoral bowing ORPHA:85165
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Distal Triplication 15Q
Arachnodactyly, Abnormality of the kidney, Large for gestational age, Birth length greater than 9... ORPHA:314588
Blau Syndrome
Clear cell renal cell carcinoma, Camptodactyly of finger, Splenomegaly, Xerostomia, Stage 5 chron... ORPHA:90340
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones, Abnorm... OMIM:127000
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Congenital Myopathy 9A
Cryptorchidism, Obesity OMIM:618822
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... ORPHA:29073
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Post... OMIM:619471
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
9Q31.1Q31.3 Microdeletion Syndrome
Tapered finger, Overweight, Small hand, Renovascular hypertension, Short clavicles ORPHA:401923
Morgagni-Stewart-Morel Syndrome
Hyperostosis frontalis interna, Osteoporosis, Obesity ORPHA:77296
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... OMIM:124000
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Syndactyl... OMIM:607323
Tenorio Syndrome
Hypoglycemia, Recurrent pneumonia, Macroglossia, Keratoconjunctivitis sicca, Recurrent aphthous s... OMIM:616260
Mucopolysaccharidosis Type 7
Splenomegaly, Inguinal hernia, Umbilical hernia, Hepatitis ORPHA:584
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Melnick-Needles Syndrome
Delayed eruption of teeth, Short humerus, Recurrent respiratory infections, Hypoplastic scapulae,... OMIM:309350
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Decreased response to growth... ORPHA:79444
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Abnormality of the dentition, Deep philtrum, Obesity, Cleft palate, E... ORPHA:251038
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulating hormo... OMIM:614897
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased muscle mass, Hypogona... OMIM:229070
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Increased circulating interleukin 6 concentration, Diabetes mellitus, Pneumonia, Pa... ORPHA:544482
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Hypospadias, Proximal placement of thumb, Tapered finger, Cryptorchidism, P... ORPHA:251071
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... ORPHA:69663
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Diamond-Blackfan Anemia 21
Hallux valgus, Sandal gap, Tapered finger, Preaxial hand polydactyly, Short toe, Obesity, Genu va... OMIM:620072
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Hypospadias, Short long bon... OMIM:619479
Distal Deletion 12Q
Ectopic kidney, High, narrow palate, Biliary atresia, Proportionate tall stature, Aplasia/Hypopla... ORPHA:96149
Leptin Receptor Deficiency
Hypergonadotropic hypogonadism, Obesity OMIM:614963
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperuricemia, Hyperglycemia ORPHA:134
Chronic Mucocutaneous Candidiasis
Cheilitis, Abnormal dental enamel morphology, Skin rash, Hepatitis ORPHA:1334
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
Kleefstra Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Renal cyst, Downturned corners of mouth, Vesicou... ORPHA:261494
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... OMIM:228300
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Absent thumb, Bilateral talipes equinovarus, Short clavicles... OMIM:618022
Omodysplasia 1
Short humerus, Increased fibular diameter, Rhizomelia, Fibular hypoplasia, Hypoplastic distal hum... OMIM:258315
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Large for gestationa... OMIM:616026
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi... ORPHA:99413
Mosaic Monosomy X
Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi... ORPHA:99226
Turner Syndrome
Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi... ORPHA:881
Bardet-Biedl Syndrome 12
Hydroureter, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Hydronephrosis, Pol... OMIM:615989
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... OMIM:618885
Weill-Marchesani Syndrome 2
Short metacarpal, Thin bony cortex, Short metatarsal, Short finger, Broad phalanges of the hand, ... OMIM:608328
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Proximal placement o... OMIM:229850
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Small hand, Osteoporosis, Obesity, Short foot, Hip dysplasia, Abdominal obesity, Fail... ORPHA:398079
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testi... OMIM:605309
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Hepatoce... ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Esophageal varix, Hepatocellular adeno... ORPHA:264580
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Failure to thrive, Osteoporosis, Tibial bowing, Short foot, Slender long bone, Ost... OMIM:601812
Osteogenesis Imperfecta
Osteopenia, Bowing of the long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Small for gest... ORPHA:666
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Tapered finger, Cleft lip, Hip dislocation, Obesity, Cleft palate, Genu valgum, Hep... OMIM:301066
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Sandal gap, Broad hallux, Dental crowding, Cryptorchidism, Obesity, Nar... OMIM:616078
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Campomelic Dysplasia
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... OMIM:114290
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Hypera... ORPHA:3008
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Nodular regenerative hyperplasia of liver, Elevated circulating creatinine con... ORPHA:247691
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Thick lower lip vermilion, Obesity, Narrow mouth, Thick upper lip vermilion, Brachydactyly OMIM:608624
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... ORPHA:420794
Sarcoidosis
Abnormal lung morphology, Nephrocalcinosis, Tubulointerstitial nephritis, Emphysema, Hepatomegaly... ORPHA:797
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Abn... ORPHA:369837
Kabuki Syndrome
Hypoplasia of penis, Orofacial cleft, High palate, Widely spaced teeth, Microdontia, Abnormal den... ORPHA:2322
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Downturned ... ORPHA:177907
Leukocyte Adhesion Deficiency
Chronic oral candidiasis, Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent sk... ORPHA:2968
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Small hand, Osteoporosis, Increased body weight, Short foot, Hip dysplasia, Abdominal... ORPHA:398069
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level OMIM:202150
Pseudohypoparathyroidism Type 1A
Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Broad 1st metacarpal, S... ORPHA:79443
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Nephropathy, Nephroblastoma OMIM:194072
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Renal malrotation, Bowing of the legs, Large for gestational age, Renal cyst, Ma... OMIM:617107
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Anemia OMIM:266900
Ulbright-Hodes Syndrome
High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Cryptorchidism, Humeroradia... ORPHA:3404
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Clinodactyly, Short philtrum, Widely spaced teeth, Clinodactyly of the... OMIM:280000
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Abnormal thumb morpho... ORPHA:500095
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Short femur, Cleft upper lip, Postnatal growth retardation, Cryp... OMIM:616145
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Lower-limb joint contracture, Glycosuria, Arthrogry... ORPHA:99885
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis... OMIM:615873
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Chops Syndrome
High, narrow palate, Cryptorchidism, Splenomegaly, Obesity, Anomalous pulmonary venous return, Ho... OMIM:616368
Acute Disseminated Encephalomyelitis
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis ORPHA:83597
Orofaciodigital Syndrome Vi
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Pr... OMIM:277170
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Hypogonadotropic hypogo... ORPHA:79318
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality... ORPHA:56305
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadotropic hypogonadism, ... OMIM:614837
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop... OMIM:215600
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Hypoplasia of the ulna, Short metacarpal, Brachydactyly, Rhizomelia, Camptodactyly of finger, Uln... OMIM:143095
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab... OMIM:137920
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... OMIM:600383
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Tented upper lip vermilion, Large for gestational age, Deep philtrum, Tibial bowing, Short philtr... ORPHA:96334
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Recurrent respiratory infections, Small for gestational age, Decreased response to growth hormone... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Recurrent respiratory infections, Thin upper lip vermilion, Small for gestational age, Decreased ... ORPHA:177901
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Obesity, Reduced bone mineral density ORPHA:2235
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Bowed humerus, Tarsal synostosis, Capi... OMIM:272460
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Skeletal muscle atrophy, Inflammatory abnormality of the skin, Cho... ORPHA:3260
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Elevated circulating creatinine concen... ORPHA:730
Narcolepsy 7
Obesity OMIM:614250
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... ORPHA:728
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, 2-3 toe syndactyly, Obesit... OMIM:618653
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Rhabdomyolysis, Hepatitis, Uveitis, Hyperprotein... ORPHA:509
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Recurrent respiratory infections, Small for gestational age, Decreased response to growth hormone... ORPHA:98793
Cerebrocostomandibular Syndrome
Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s... OMIM:117650
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra... OMIM:304120
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... ORPHA:411634
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... OMIM:269150
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... OMIM:154500
Retinitis Pigmentosa 74
Abnormal renal morphology, Polydactyly, Obesity OMIM:616562
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Overgrowth, Small for gestational age, Large for gestational age ORPHA:254534
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Neurofibroma
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Neoplas... ORPHA:252183
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Biliary ... OMIM:600001
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Jaundice, Hepatitis, Cholestasis, Atypi... ORPHA:198
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ... ORPHA:2331
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hypogonadotropic hypogonadism, ... OMIM:619761
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Delayed epiphyseal ossification, Preaxial polydactyly, Renal cyst, Femoral bowing, Sh... OMIM:210710
Joubert Syndrome 39
Overweight, Polycystic kidney dysplasia, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Elevated hepatic transaminase, Decreased response to growth hormone stimulation tes... ORPHA:293987
Pallister-Hall Syndrome
Ectopic kidney, Large for gestational age, Abnormal lung lobation, Gonadotropin deficiency, Micro... ORPHA:672
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... ORPHA:49041
Kagami-Ogata Syndrome
Pursed lips, Coxa valga, Postnatal growth retardation, Large for gestational age, Overgrowth, Hep... ORPHA:254519
Femoral-Facial Syndrome
Short fourth metatarsal, Micropenis, Cryptorchidism, Humeroradial synostosis, Smooth philtrum, To... OMIM:134780
Osteogenesis Imperfecta, Type Xvii
Bowed humerus, Thin long bone diaphyses, Hip dislocation, Dentinogenesis imperfecta, Thin metacar... OMIM:616507
Hellp Syndrome
Elevated hepatic transaminase, Proteinuria, Increased body weight, Hemoglobinuria, Pleural effusi... ORPHA:244242
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Scorpion Envenomation
Acute pancreatitis, Increased circulating NT-proBNP concentration, Elevated circulating aspartate... ORPHA:466677
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Insulin resistance, Osteoarthritis, Absence of subcu... ORPHA:740
45,X/46,Xy Mixed Gonadal Dysgenesis
Hallux valgus, Decreased serum testosterone concentration, Streak ovary, Unilateral cryptorchidis... ORPHA:1772
Myhre Syndrome
Thin upper lip vermilion, Overlapping toe, Small for gestational age, Cleft lip, Short toe, Crypt... OMIM:139210
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate, Vesicoureteral... OMIM:309580
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Metaphyseal widening, Osteoporosis, Tibial bowing OMIM:259770
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Nephrogenic rest, ... OMIM:267000
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Vesicoureteral reflux, Broad hallux, Hypospadias, Cryptorchidism, Supernumerary ... ORPHA:353281
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Fa... ORPHA:2495
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Abnormal pulmonary interstitial morpho... ORPHA:50918
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Hypospadias, Decreased response to growth hormone stimulation test, Sma... ORPHA:444077
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, High palate, Vesicoureteral reflux, Syndactyly, Broad hallux, Hypospadias, Abnor... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, High palate, Vesicoureteral reflux, Syndactyly, Broad hallux, Hypospadias, Abnor... ORPHA:353277
Aspartylglucosaminuria
Abnormal cortical bone morphology, Abnormal morphology of ulna ORPHA:93
Carpenter Syndrome 2
Bilateral cryptorchidism, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous finger ... OMIM:614976
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-reactiv... ORPHA:319213
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Recurrent urinary tract infections, Dental crowding, Rectal prolapse, Short met... OMIM:617157
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype... ORPHA:340
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Failure to thrive, Small for gestational age, Decreased resting energy expenditure ORPHA:404454
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Small for gestational age, Rickets, Reduced bone mineral density, Failure to thrive, ... OMIM:613658
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Pauci-Immune Glomerulonephritis
Granulomatosis, Elevated circulating creatinine concentration, Pancreatitis ORPHA:93126
Yellow Fever
Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi... ORPHA:99829
Williams-Beuren Syndrome
Rectal prolapse, Nephrocalcinosis, Vesicoureteral reflux, Clinodactyly of the 5th finger, Microdo... OMIM:194050
Beckwith-Wiedemann Syndrome
Ureteral duplication, Large for gestational age, Vesicoureteral reflux, Hepatoblastoma, Nephropat... ORPHA:116
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Leydig cell neoplasia, ... ORPHA:1359
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Increased circulating ferritin ... OMIM:619534
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Paradoxical increased cortisol secretion o... ORPHA:96253
Roberts-Sc Phocomelia Syndrome
Tetraphocomelia, High palate, Phocomelia, Accessory spleen, Syndactyly, Hypoplasia of the ulna, H... OMIM:268300
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic st... OMIM:220111
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Neoplasm of the... ORPHA:99889
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:91500

Histopathology

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

There is no histopathology data for Socs2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Socs2.

No publications found that use IMPC mice or data for Socs2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Socs2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Socs2em1(IMPC)H Indel Mice
Socs2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Socs2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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