Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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, Decreased resting energy expenditure, Obesity OMIM:601665
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Increased circulating an... ORPHA:411593
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecular bone morpholo... ORPHA:79106
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... ORPHA:263458
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... ORPHA:3152
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Enlarged epiphyses, Camptodactyly, Osteopenia, Obesity OMIM:264010
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... ORPHA:2779
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Chondritis, Abnormality of the fourth metatarsal bone, ... ORPHA:564003
Hyperostosis Corticalis Generalisata
Diaphyseal thickening, Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone m... ORPHA:3416
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Lipoatrophy, Hepatic fi... ORPHA:280356
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Fibular bowing, Genu valgum, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... ORPHA:79299
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatom... OMIM:612526
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, E... OMIM:615980
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Thickened cortex of long bones ORPHA:53697
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertriglyceridemia, Type II diabet... OMIM:615703
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hepatomegaly, Pancreatitis,... ORPHA:79084
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Hyperuricemia, ... OMIM:604367
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Acromegaloid Facial Appearance Syndrome
Abnormality of the mouth, Bulbous nose, Large hands, Large for gestational age, Tapered finger OMIM:102150
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Incr... ORPHA:435660
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Abnormal cortical... ORPHA:3344
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, I... OMIM:606721
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Summitt Syndrome
Craniosynostosis, Syndactyly, Obesity OMIM:272350
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Obesity, Hip dysplasia, Ulnar metap... ORPHA:174
Pseudopseudohypoparathyroidism
Short 4th metacarpal, Short metatarsal, Short 5th metacarpal, Obesity, Ectopic ossification, Shor... ORPHA:79445
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Lipodystrophy, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Osteolysis, Abnormality of epiphysis morphology, Abnormal cortical bone morp... ORPHA:970
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Diabetes insip... ORPHA:181393
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Mental Retardation, X-Linked 91
Cubitus valgus, Short nose, Clinodactyly, Small hand, Short foot, High palate, Short 5th finger, ... OMIM:300577
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity, Type A brachydactyly, Abnormal thumb morphology, Abnormality of the metacarpal bones ORPHA:1078
Familial Expansile Osteolysis
Osteolysis, Thin bony cortex, Bowing of the long bones OMIM:174810
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Fibular bowing, Metaphyseal irregularity, Rickets, Tibial bowing, Bowing of th... OMIM:600081
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Increased circ... ORPHA:139507
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Reduced intraabdominal adipos... ORPHA:363400
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Limb undergrowth, Abnormal cortical bone morphology, Increas... ORPHA:2204
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Osteosclerosis With Ichthyosis And Fractures
Tibial bowing, Femoral bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity OMIM:617119
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Folliculitis, Acne, Inflammation of the large intes... OMIM:300635
Cirrhosis, Familial
Increased circulating antibody level, Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Adipose... ORPHA:528
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Halberd-shaped pelvis, Abnormal cortic... ORPHA:2635
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Tooth malposition, Abnormality of dental morphology, Tapered finger, Hypoplasia o... ORPHA:85274
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones, Corti... ORPHA:1310
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... ORPHA:35878
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Flexion contracture, Lipody... OMIM:615381
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Gout... OMIM:610947
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ... OMIM:151660
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Toe clinodactyly, Abnormal cortical bone morphology, Short foot ORPHA:166277
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Insulin-Resistance Syndrome Type B
Skin rash, Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Pneumonia, In... ORPHA:2298
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Variant Abeta2M Amyloidosis
Abnormality of the tongue, Intestinal perforation, Renal amyloidosis, Abnormal salivary gland mor... ORPHA:314652
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, N... ORPHA:199296
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Genu valgum, Finger joint hypermobility, Obesity ORPHA:436141
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Glucose intolerance, Hyperinsulinemia, Insuli... ORPHA:2457
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Bardet-Biedl Syndrome 10
Polydactyly, Renal cyst, Renal insufficiency, Abnormality of the kidney, Obesity OMIM:615987
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Mgat2-Cdg
Tall stature ORPHA:79329
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Exocrine pancreatic insufficiency... ORPHA:552
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Weismann-Netter Syndrome
Squared iliac bones, Fibular bowing, Calvarial hyperostosis, Anterior tibial bowing, Lateral femo... OMIM:112350
Bardet-Biedl Syndrome 18
Renal insufficiency, Brachydactyly, Obesity OMIM:615995
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hyperuricemia, ... ORPHA:79083
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Fibular bowing, Metaphyseal irregularity, Rickets, Hypophosphatemic rickets, T... OMIM:300554
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Fibular bowing, Metaphyseal irregularity, Rickets, Hypophosphatemic rickets, T... OMIM:241530
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Hepatomegaly, Hype... ORPHA:2348
Cranio-Osteoarthropathy
Abnormality of tibia morphology, Clubbing of toes, Abnormal cortical bone morphology, Deviation o... ORPHA:1525
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal circul... ORPHA:79086
Summitt Syndrome
Genu valgum, Short 4th metacarpal, Craniosynostosis, Camptodactyly of finger, Finger syndactyly, ... ORPHA:3210
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Acne OMIM:615363
Cortisone Reductase Deficiency 2
Premature pubarche, Insulin resistance OMIM:614662
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Scarring, Cutaneous abscess, Hepatic lobular inflam... ORPHA:101330
Bardet-Biedl Syndrome 6
Polydactyly, Syndactyly, Renal cyst, Hypospadias, Obesity OMIM:605231
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabete... ORPHA:436182
Grant Syndrome
Abnormality of the glenoid fossa, Bowing of the long bones, Abnormal cortical bone morphology, De... ORPHA:2097
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia, Hepati... OMIM:602579
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Flexion c... OMIM:613327
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Fibular bowing, Subperiosteal bone resorption, Metaphyseal irregularity, Ricke... OMIM:264700
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Broad tibial metaphyses, Aplasia/Hypoplasia of metatarsal bones, Short palm... ORPHA:2502
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Hyperinsuline... ORPHA:263455
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly, Micropenis, Obesity OMIM:615983
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level OMIM:618856
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Fibular bowing, Subperiosteal bone resorption, Metaphyseal irregularity, Ricke... OMIM:277440
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Leri-Weill Dyschondrosteosis
Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bones, Abnormal... OMIM:127300
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Genu valgum, Carious teeth, Amelogenesis imperfecta, Pierre-Robin sequence, High palate, Tooth ag... OMIM:618363
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Anal atresia, Narrow mouth, Abnormality of the pharynx ORPHA:3469
Ck Syndrome
Slender build, Abnormal cortical bone morphology, Abnormal digit morphology OMIM:300831
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Splenomegaly, Type ... ORPHA:90970
Cortisone Reductase Deficiency 1
Obesity, Infertility, Oligomenorrhea OMIM:604931
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Omodysplasia 2
Dislocated radial head, Hypoplastic distal humeri, Cryptorchidism, Long philtrum, Limited elbow f... OMIM:164745
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Abdominal obesity OMIM:618160
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis, Abnormality of pelvic girdle... OMIM:607634
Simpson-Golabi-Behmel Syndrome, Type 2
Congenital hip dislocation, Pneumonia, High palate, Micropenis, Wide nose, Obesity, Recurrent upp... OMIM:300209
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology ORPHA:2849
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Alstrom Syndrome
Recurrent pneumonia, Nephritis, Elevated hepatic transaminase, Hyperinsulinemia, Chronic active h... OMIM:203800
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, He... ORPHA:435651
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Abnormality of the tongue, Broad palm, Intestinal malrotation, Bilateral cleft lip and palate, Ab... OMIM:601165
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... OMIM:191440
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Decreased HDL cholesterol concentration, Minimal subcutaneous fat, Increa... ORPHA:280365
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Bardet-Biedl Syndrome 4
Cryptorchidism, Polydactyly, Abnormality of the dentition, Syndactyly, Renal cyst, Brachydactyly,... OMIM:615982
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neoplasm of the adrenal gland, Pituitary prolact... ORPHA:97279
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Thin vermilion border, Bulbous nose, Truncal obesity, Small hand, Failure to thri... ORPHA:261483
Adenocarcinoma Of The Esophagus
Clinodactyly of the 5th toe, Barrett esophagus, Esophageal carcinoma, Obesity ORPHA:99976
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hypoglycemia, Hepatit... OMIM:614921
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Shox-Related Short Stature
Cubitus valgus, Genu valgum, Ulnar radial head dislocation, Madelung deformity, Tibial bowing, Fo... ORPHA:314795
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant hepatitis... OMIM:618549
Retinitis Pigmentosa
Atypical scarring of skin, Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Skin rash, Elevated hepatic transaminase, Increased... ORPHA:540
Ulnar Hemimelia
Radial club hand, Short forearm, Duplication of phalanx of 3rd finger, Aplasia of the 4th finger,... ORPHA:93320
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Lethal Congenital Contracture Syndrome Type 1
Slender long bone, Abnormal hip bone morphology, Abnormal cortical bone morphology ORPHA:1486
Adult Acute Respiratory Distress Syndrome
Abnormal serum interleukin level, Pneumonia, Abnormality of tumor necrosis factor secretion, Incr... ORPHA:70578
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Hypothyroidism, Erythroderma, Glomerulonephritis, Hepatitis, Typ... OMIM:304790
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Pancreatitis, Type II diabetes mellitus OMIM:246650
Pseudopseudohypoparathyroidism
Osteoporosis, Short metatarsal, Short metacarpal, Brachydactyly, Obesity OMIM:612463
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Insulin resistance OMIM:617885
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Low urinary cyclic AMP response to PTH administration, Elevated circula... OMIM:603233
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Failure to thrive OMIM:600121
Spondylometaphyseal Dysplasia, Sedaghatian Type
Talipes equinovarus, Short toe, Short phalanx of finger, Metaphyseal irregularity, Flared iliac w... OMIM:250220
Dent Disease 1
Bulging epiphyses, Fibular bowing, Metaphyseal irregularity, Rickets, Tibial bowing, Osteomalacia... OMIM:300009
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia, Lipoatrophy OMIM:613877
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Narrow mouth, Hypoplasia of the ulna, Bilateral singl... ORPHA:1972
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Cholesta... OMIM:246200
Autoimmune Hepatitis
Acute hepatitis, Increased total bilirubin, Cirrhosis, Inflammation of the large intestine, Eleva... ORPHA:2137
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Increased bone mineral density, Abnormal diaphysis morphology, Thin bony ... ORPHA:85184
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormality of the tibial metaphysis, Tibial bowing ORPHA:2768
Clark-Baraitser syndrome
Prominent median palatal raphe, Genu valgum, Anteverted nares, Broad palm, Macroorchidism, Tall s... OMIM:300602
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Overweight, Broad nasal tip, Short 5th metacarpal, ... ORPHA:370010
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Micromelia, Short finger, Metaphy... OMIM:250215
Clark-Baraitser Syndrome
Long philtrum, Short nose, Downturned corners of mouth, Wide mouth, Sandal gap, Clinodactyly, Dep... OMIM:617752
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Keloids ORPHA:3085
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Temple Syndrome
Cryptorchidism, Short philtrum, Overweight, Decreased testicular size, Cleft palate, Truncal obes... OMIM:616222
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Oligodontia, Everted lower lip vermilion, Large hands, Anodontia, Tapered finger, Wide nose, Obesity ORPHA:276630
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the metaphysis, Reduced bone mineral density, Long fibula ORPHA:935
Trisomy 4P
Radial club hand, Cryptorchidism, Preaxial hand polydactyly, Camptodactyly of finger, Carious tee... ORPHA:1738
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Decreased circulat... OMIM:308230
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Long philtrum, Abnormality of dental morphology, Upper limb phocomelia, Deep ph... ORPHA:2878
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Broad nasal tip, Rhizomeli... OMIM:601560
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Abnormal palate morph... ORPHA:1278
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
11P15.4 Microduplication Syndrome
Long philtrum, Large hands, Smooth philtrum, Increased overbite, Anteverted nares, Obesity ORPHA:300305
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Toe syndactyly, Abnormality of epiphysis morphology, Flexi... ORPHA:3409
Hypocalcemic Vitamin D-Dependent Rickets
Subperiosteal bone resorption, Rickets, Tibial bowing, Osteomalacia, Thin bony cortex, Delayed ep... ORPHA:289157
Polycystic Ovary Syndrome 1
Obesity, Amenorrhea, Oligomenorrhea OMIM:184700
Narcolepsy Type 1
Obesity ORPHA:2073
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Hypothyroidism, Stea... OMIM:269200
Atkin-Flaitz Syndrome
Prominent median palatal raphe, Genu valgum, Anteverted nares, Broad palm, Macroorchidism, Tall s... OMIM:300431
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Elevated hepatic transaminase, Hyperinsulinemia, Hepatic steat... OMIM:608594
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Brachydactyly, Limb undergrowth, Micromelia OMIM:122900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Tibial bowing, ... OMIM:307800
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Median cleft palate, Large for gestational age, Recurrent respiratory infections ORPHA:2432
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Autosomal Agammaglobulinemia
Skin rash, Cellulitis, Bronchiectasis, Chronic otitis media, Conjunctivitis, Hepatitis, Agammaglo... ORPHA:33110
Osteogenesis Imperfecta, Type Ii
Broad long bones, Absent ossification of calvaria, Tibial bowing, Crumpled long bones, Small for ... OMIM:166210
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Abnormal cortical bone morphology, Short dis... ORPHA:2484
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralg... ORPHA:93323
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Short Stature-Obesity Syndrome
Micromelia, Limb undergrowth, Narrow nose, Prominent nasal bridge, Clinodactyly of the 5th finger... OMIM:269870
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Craniosynostosis, Broad thumb, Toe syndactyly, Finger sy... ORPHA:65759
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Increased bone m... ORPHA:289176
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Increased circulating IgM level, Hepatocellular carcino... ORPHA:186
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Postnatal growth retardation, Short distal phalanx of finger, Ulnar bowing, Na... OMIM:210720
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... ORPHA:37042
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Elevated hepatic transaminase, Hyperinsulinemia, Hepatic steat... OMIM:269700
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Thyroiditis, Jaundice, Hypoalbuminemia, Cirrhosis, Acute hepatic fai... ORPHA:171
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density, Abnormality of ... ORPHA:73
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Erythroderma, Pneumonia, Hepatiti... ORPHA:169160
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Long philtrum, Radioulnar synostosis, Elbow dislo... OMIM:171480
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism OMIM:144600
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Postaxial polydactyly, Short long bone, Nephrocalcinosis, Brachydactyly, Recurren... OMIM:615633
Bardet-Biedl Syndrome 19
Polydactyly, Renal insufficiency, Obesity OMIM:615996
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Rafiq Syndrome
Short philtrum, Smooth philtrum, Wide nasal bridge, Obesity, Thin upper lip vermilion, Prominent ... OMIM:614202
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Short philtrum, Narrow mouth, Postnatal growth retardation, Cleft palate, Truncal... ORPHA:96184
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibia... OMIM:602111
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabetic ketoacidosis... OMIM:618858
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypothyroidism, Camptodactyly, Hashimoto thyroiditis, Hepatomegaly, Hepatitis, Type I diabetes me... OMIM:613385
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Absence of secon... ORPHA:785
Desbuquois Dysplasia 1
Short metatarsal, Phalangeal dislocation, Broad first metatarsal, Sandal gap, Flat acetabular roo... OMIM:251450
Bardet-Biedl Syndrome 16
Renal insufficiency, Abnormality of the kidney, Bronchiolitis, Renal dysplasia, Renal cyst, Renal... OMIM:615993
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Micromelia, Sandal gap, Abnormality of the ureter, High palate, Arachnodactyly, Ante... ORPHA:1035
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Long philtrum, Short philtrum, Narrow mouth, Abnormality of the dentition, Thin upper lip vermili... OMIM:618443
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Downturned corners of mouth, Acromicria, Postnatal growth retardation, Clinodactyly, Small hand, ... ORPHA:254525
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Abnormality of the metacarpal bones, Abnormality of the ulna, High pa... ORPHA:2233
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Furrowed tongue, Truncal obesity, Ulnar deviation of finger, Abnormality... ORPHA:2928
Mehmo Syndrome
Cryptorchidism, Downturned corners of mouth, Micropenis, Thick vermilion border, Hypoplasia of pe... ORPHA:85282
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Thin vermilion border, Long philtrum, Toe syndactyly, Radioulnar synostosis, Shor... ORPHA:171839
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Short thumb, Short femoral n... ORPHA:93307
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hyperglycemia, Diabet... OMIM:606176
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis OMIM:234350
Hyperostosis Frontalis Interna
Irregular menstruation, Obesity OMIM:144800
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Splenomegaly ORPHA:444463
X-Linked Agammaglobulinemia
Hypocalcemia, Skin rash, Recurrent pneumonia, Cellulitis, Chronic otitis media, Conjunctivitis, H... ORPHA:47
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Postprandial hyperglycemia, Hepatocellular carcinoma, Ele... ORPHA:2088
Al Amyloidosis
Macroglossia, Abnormality of the kidney, Albuminuria, Abnormal salivary gland morphology, Weight ... ORPHA:85443
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Decreased circulati... ORPHA:227990
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Hypothyroidism, Increased circulating androgen concentr... ORPHA:769
Autoimmune Polyendocrinopathy Type 3
Graves disease, Iridocyclitis, Anterior pituitary dysgenesis, Hypergonadotropic hypogonadism, Dec... ORPHA:227982
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Narrow mouth, Hypoplasia of the ulna, Sin... OMIM:227270
Benign Schwannoma
Nasal polyposis, Abnormality of the larynx, Abnormal esophagus morphology, Abnormal parotid gland... ORPHA:252164
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Laurence-Moon Syndrome
Cryptorchidism, Hand polydactyly, Finger syndactyly, Bilateral single transverse palmar creases, ... ORPHA:2377
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Male hypogonadism, Decreased circulating parathyroid hormone level, Iridocycli... OMIM:240300
Immunodeficiency 61
Recurrent sinusitis, Obesity, Malabsorption, Recurrent respiratory infections, Colon cancer OMIM:300310
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis OMIM:218550
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Thin vermilion border, Increased circulating gonadotropin level, Bulbous nose, Sh... OMIM:300869
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Isolated Sedoheptulokinase Deficiency
Arthrogryposis multiplex congenita, Postprandial hyperglycemia, Flexion contracture, Steatorrhea,... ORPHA:440713
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Tibial bowing, Abnormally ossified vertebrae, Lower limb... ORPHA:3035
Rhizomelic Limb Shortening With Dysmorphic Features
Long philtrum, Short 5th finger, Rhizomelia, Stage 1 chronic kidney disease, Smooth philtrum, Wid... OMIM:618821
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Short philtrum, Postnatal growth retardation, Clinodactyly, Small hand, Short foot, High palate, ... ORPHA:254531
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Finger syndactyly, Abnormality of epiphysis morphology, Clinodactyly, Obesity ORPHA:166024
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Broad metacarpals, Flared iliac w... OMIM:271665
Chung-Jansen Syndrome
Cryptorchidism, Thin vermilion border, Long philtrum, Short philtrum, Short nose, Anteverted nare... OMIM:617991
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Nephrogenic diabetes insipidus, Elevated hepatic transaminase... OMIM:613404
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Femoral bowing, Thin bony cortex, Bowing of the long bones OMIM:617952
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Trisomy 5P
Obesity, Renal hypoplasia/aplasia, Hypoplasia of penis, Abnormality of the metacarpal bones ORPHA:1742
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Hematuria, Proteinuria, Madelung deformity, Aplasia/Hypoplasia of the radius, Neph... ORPHA:1765
Nephronophthisis 15
Polydactyly, Nephronophthisis, Hepatic failure, Obesity OMIM:614845
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Borjeson-Forssman-Lehmann Syndrome
Shortening of all distal phalanges of the fingers, Cryptorchidism, Widely spaced toes, Micropenis... OMIM:301900
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Short metatarsal, Short phalanx of finger, Pos... ORPHA:439822
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Short metatarsal, Short phalanx of finger, Anteverted nares, Short nose, Cone-sha... OMIM:614613
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Bronchiectasis, Pulmonary fibrosis... OMIM:181000
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Solitary median maxillary central incisor, Hand oligodactyly... OMIM:602418
Microtriplication 11Q24.1
Genu valgum, Short philtrum, Irregularly spaced teeth, Smooth philtrum, Cleft palate, Metatarsus ... ORPHA:289522
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Pancreatic cysts, Umbilical hernia, Cholestasis, Hepatic fibrosis, Hepatomegaly, H... OMIM:610199
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic scapulae, Hypoplastic ilia, Dumbbell-shaped long bone, ... ORPHA:3144
Adult-Onset Still Disease
Skin rash, Elevated hepatic transaminase, Pericarditis, Myocarditis, Abnormal circulating lipid c... ORPHA:829
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Nephronophthisis, Postaxial hand polydactyly, Cholestasis, Hepatic fibrosis, Hepatom... OMIM:615630
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing, Nephritis OMIM:127350
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Increased T3/T4 ratio, Incre... OMIM:614450
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Thyroiditis, Hypothyroidism, Camptodactyly, Acute hepatic failure, Cholangitis, Hepati... ORPHA:228426
15Q24 Microdeletion Syndrome
Cryptorchidism, Narrow mouth, Postnatal growth retardation, Small for gestational age, Depressed ... ORPHA:94065
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Beta-Thalassemia
Abnormality of iron homeostasis, Cholelithiasis, Hepatomegaly, Hepatitis, Splenomegaly, Hypogonad... ORPHA:848
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hypothy... ORPHA:465508
X-Linked Non-Syndromic Intellectual Disability
Shortening of all distal phalanges of the fingers, Meckel diverticulum, Clinodactyly of the 2nd t... ORPHA:777
Atelosteogenesis, Type Iii
Widened distal phalanges, Radial bowing, Elbow dislocation, Hitchhiker thumb, Rhizomelia, Sandal ... OMIM:108721
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin-resistant diabetes mellitus, Insulin r... ORPHA:90301
Microduplication Xp11.22P11.23 Syndrome
Toe syndactyly, Obesity ORPHA:217377
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, ... ORPHA:449432
Familial Multiple Lipomatosis
Lipodystrophy, Hyperlipidemia, Increased adipose tissue, Insulin resistance ORPHA:199276
Bardet-Biedl Syndrome 21
Postaxial hand polydactyly, Horseshoe kidney, Overweight, Elevated hepatic transaminase, Abnormal... OMIM:617406
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Interface hepatitis, Elevated serum transamin... OMIM:611182
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Lateral humeral condyle aplasia, Elbow disloca... OMIM:164900
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip dysplasia, Hip subluxation, Protrusio acetabuli, Flattened femoral head, Coxa vara, Broad rad... ORPHA:99642
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... ORPHA:85170
Acute Lung Injury
Abnormality of serum cytokine level, Pneumonia, Acute pancreatitis, Increased circulating interle... ORPHA:178320
Griscelli Syndrome
Decreased circulating antibody level, Abnormal circulating lipid concentration, Hepatomegaly, Jau... ORPHA:381
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes OMIM:610582
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Multiple Osteochondromas
Radial bowing, Genu valgum, Abnormality of tibia morphology, Anteverted nares, Elbow dislocation,... ORPHA:321
Temple Syndrome
Cryptorchidism, Decreased response to growth hormone stimuation test, Postnatal growth retardatio... ORPHA:254516
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Distal 16P11.2 Microdeletion Syndrome
Narrow mouth, Proteinuria, Aganglionic megacolon, Vesicoureteral reflux, Chronic kidney disease, ... ORPHA:261222
Otospondylomegaepiphyseal Dysplasia
Dumbbell-shaped femur, Abnormality of long bone morphology, Short phalanx of finger, Abnormal pel... ORPHA:1427
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Viral hepatitis, Panhypogammaglobulinemia, Biliary tract abnormality, Colitis, ... OMIM:209920
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Mehmo Syndrome
Long philtrum, Broad nasal tip, Open mouth, Drooling, Obesity, Small for gestational age, Cleft l... OMIM:300148
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Hypogonadism, Hypoglycemia, Insulin resistance ORPHA:73272
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Abnormality of the submandibular glands, Abnormality of the sublingual g... ORPHA:79493
Wilson Disease
Cirrhosis, Chondrocalcinosis, Hepatocellular carcinoma, Glycosuria, Hepatomegaly, Atypical or pro... OMIM:277900
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Pleuritis, Hematuria, Acute kidney injury, Interstitial pneu... ORPHA:449395
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Short nose, High ... OMIM:206920
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger, Obesity OMIM:618725
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Hyperinsulinemia, Insulin resistance, Elevated circulating creatin... ORPHA:230
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Thin vermilion border, Downturned corners of mouth, Wide mouth, Increased body weight, Short foot... OMIM:300860
X-Linked Intellectual Disability, Stevenson Type
Genu valgum, Large hands, Tall stature, Tented upper lip vermilion, Microdontia, Tapered finger, ... ORPHA:85325
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Panhypogammaglobulinemia, Pneumonia, Septic ar... OMIM:307200
Dominant Beta-Thalassemia
Cirrhosis, Abnormality of iron homeostasis, Hypothyroidism, Hepatocellular carcinoma, Hypopituita... ORPHA:231226
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Nephrogenic diabetes insipidus, Elevated hepatic transaminase... OMIM:208085
Hernández-Aguirre Negrete Syndrome
Wide mouth, Deep philtrum, Bulbous nose, Obesity ORPHA:2139
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Long philtrum, Thin vermilion border, Short metatarsal, Broad nasal tip, Anteverted nares, Pseudo... OMIM:617157
Whipple Disease
Pericarditis, Insulin resistance, Hypothyroidism, Hyponatremia, Uveitis, Hepatomegaly, Encephalit... ORPHA:3452
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cirrhosis, Increased circulating IgM level, Interlobular bil... ORPHA:562639
Nail-Patella Syndrome
Limited elbow extension, Triceps aplasia, Biceps aplasia, Hematuria, Renal insufficiency, Hypopla... OMIM:161200
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypogonadism, Obesity ORPHA:141333
Rhizomelic Chondrodysplasia Punctata, Type 2
Anteverted nares, Stippled calcification proximal humeral epiphyses, Rhizomelia, Short humerus, W... OMIM:222765
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Prader-Willi Syndrome Due To Imprinting Mutation
Narrow palm, Small hand, Abnormality of ulnar metaphysis, Short foot, Obesity ORPHA:177910
Smith-Magenis Syndrome
Abnormal renal morphology, Broad palm, Abnormality of the forearm, Abnormality of the larynx, Abn... OMIM:182290
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Rhizomelic Dysplasia, Patterson-Lowry Type
Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Short metacarpal,... OMIM:601438
Ulnar-Mammary Syndrome
Short 4th toe, Anterior pituitary hypoplasia, Absent radius, Short clavicles, Short 5th toe, Defo... OMIM:181450
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Dental crowding, Cone-shaped epiphysis, Hallux valgus, Obesity OMIM:606772
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth, Short toe, Short metatarsal, Pseudohypoparathyroidi... OMIM:103580
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth, Short metatarsal, Pseudohypoparathyroidism, Low uri... OMIM:612462
Megalencephaly
Genu valgum, Long penis, Macroorchidism, Wide nasal bridge, Truncal obesity ORPHA:2477
Atelosteogenesis, Type I
Cryptorchidism, Short metatarsal, Elbow dislocation, Multinucleated giant chondrocytes in epiphys... OMIM:108720
Senior-Loken Syndrome 9
Nephronophthisis, Polydactyly, Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis, Stage... OMIM:616629
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Hype... ORPHA:2089
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Choanal atre... ORPHA:2363
Severe Intellectual Disability And Progressive Spastic Paraplegia
Short philtrum, Overweight, Bulbous nose, Drooling, Wide mouth, Acetabular dysplasia, High palate... ORPHA:280763
Autosomal Dominant Omodysplasia
Cryptorchidism, Long philtrum, Short nose, Elbow dislocation, Rhizomelia, Short 1st metacarpal, S... ORPHA:93328
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of... ORPHA:397973
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Deformed humeral heads, Short nose, Rhizomelia, Short humerus, Coxa vara, Short meta... ORPHA:2831
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Diastema, Hypospadias OMIM:179250
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Metaphyseal irregularity, Carpal bone hypoplasia, Irregular epiphyses, Narrow iliac wing, Flat ac... OMIM:610442
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Trichohepatoenteric Syndrome 2
Cirrhosis, Colitis, Hepatomegaly, Decreased serum iron, Hepatitis OMIM:614602
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Hypoplasia of the radius, Short femur, Respiratory tract infection, Short philtru... OMIM:607143
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Mental Retardation With Language Impairment And With Or Without Autistic Features
Short nose, Open mouth, Drooling, Enuresis, Failure to thrive in infancy, Broad nasal tip, Obesity OMIM:613670
Cantu Syndrome
Osteoporosis, Short hallux, Erlenmeyer flask deformity of the femurs, Hypoplastic ischiopubic ram... OMIM:239850
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Long philtrum, Bulbous nose, Postnatal growth retardation, Thin upper lip vermilion, Depressed na... ORPHA:480907
Hydrocephalus-Obesity-Hypogonadism Syndrome
Cubitus valgus, High, narrow palate, Short 4th metacarpal, Obesity ORPHA:2183
Tetraploidy
Radial club hand, Short philtrum, Aplasia/Hypoplasia of the lungs, Hydronephrosis, Cleft palate, ... ORPHA:3305
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cryptorchidism, Carious teeth, Hydroureter, Split hand, Choanal atresia, Duplicated collecting sy... OMIM:604292
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Calcinosis, Delayed puberty, Generalized lipodystrophy, Hyperlipidemia ORPHA:90154
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Dental crowding, Postnatal growth ret... OMIM:615777
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Mccune-Albright Syndrome
Hypophosphatemia, Abnormal endocrine physiology, Elevated circulating growth hormone concentratio... ORPHA:562
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Bronchiectasis, Thyroiditis, Hepatitis, Delayed puberty, Ty... ORPHA:391487
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Goiter, Abnormality of epiphysis morphology, Decreased circulating T4 level, Absent... ORPHA:226313
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Inflammatory abnormality of the skin, Elevated he... ORPHA:39812
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal widening, Genu valgum, Metaphyseal irregularity, Broad phalanx, Carpal bone hypoplasi... OMIM:250420
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration ORPHA:31
Pallister W Syndrome
Radial bowing, Cubitus valgus, Agenesis of central incisor, Camptodactyly, Agenesis of maxillary ... OMIM:311450
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing, Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Grant Syndrome
Down-sloping shoulders, Tibial bowing OMIM:138930
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... OMIM:186500
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent upper respiratory tract infections, Recurrent pneumonia, Decrea... OMIM:614962
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Nonossified fifth metatarsal, Broad thumb, Short metatarsal, Congenital hip dislo... OMIM:304120
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Ulnar-Mammary Syndrome
Absent hand, Cryptorchidism, Short distal phalanx of finger, Abnormality of the metacarpal bones,... ORPHA:3138
Baralle-Macken Syndrome
Urinary incontinence, High, narrow palate, Tapered finger, Obesity OMIM:619255
Laurin-Sandrow Syndrome
Cryptorchidism, Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe... ORPHA:2378
Melioidosis
Lung abscess, Respiratory tract infection, Splenic abscess, Acute infectious pneumonia, Pneumonia... ORPHA:31202
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Thin vermilion border, Long philtrum, Short fourth metatarsal, Anteverted nares, ... ORPHA:464288
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Underdeveloped nasal alae, Fibular duplication, Short foot, Absen... OMIM:135750
Kyphomelic Dysplasia
Radial bowing, Short femur, Dumbbell-shaped humerus, Short humerus, Tibial bowing, Cleft palate, ... OMIM:211350
W Syndrome
Radial bowing, Cubitus valgus, Elbow dislocation, Camptodactyly, Agenesis of maxillary central in... ORPHA:2804
Hydrocephalus With Associated Malformations
Intestinal malrotation, Tibial bowing, Lower limb undergrowth, Pulmonary hypoplasia, Short lower ... OMIM:236640
Central Precocious Puberty
Overgrowth, Increased body weight, Obesity ORPHA:759
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Abnormality of the kidney, Broad thumb, Horseshoe kidney, Finger syndactyly, Add... ORPHA:3320
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Inguinal hernia, Diabetes m... ORPHA:3163
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Femoral bowing, Absent ossification of capital femoral epiphysis, Tibial bowing OMIM:245160
Abcd Syndrome
Large for gestational age OMIM:600501
48,Xxyy Syndrome
Hip dysplasia, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Open bite, Radio... ORPHA:10
Bardet-Biedl Syndrome 8
Polydactyly, Renal dysplasia, Hypospadias, Obesity OMIM:615985
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Polydactyly, Renal cyst, Stage 5 chronic kidney disease, Brachydactyly, Ob... OMIM:615994
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Wide anterior fontanel, Decreased calvarial ossification, Severe generalized... OMIM:259420
Upper Limb Mesomelic Dysplasia
Radial bowing, Hypoplasia of the ulna, Ulnar deviation of finger ORPHA:2497
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cryptorchidism, Carious teeth, Oligodontia, Hydroureter, Split hand, Choanal atresia, Duplicated ... OMIM:129900
Autism, Susceptibility To, 18
Overweight, Tall stature OMIM:615032
Myasthenia Gravis
Primary adrenal insufficiency, Rheumatoid arthritis, Hashimoto thyroiditis, Hyperthyroidism, Glyc... ORPHA:589
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Glucose i... OMIM:235200
Spondylometaphyseal Dysplasia, Sedaghatian Type
Metaphyseal chondrodysplasia, Short palm, Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac... ORPHA:93317
Acrodysostosis
Open bite, Cryptorchidism, Hypoplasia of the radius, Epiphyseal stippling, Short metatarsal, Shor... ORPHA:950
Rhyns Syndrome
Radial bowing, Nephronophthisis, Renal insufficiency, Pituitary hypothyroidism, Chronic kidney di... OMIM:602152
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Insulin resistance, Recurrent infantile hypoglycemia, Pos... ORPHA:508
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Renal insufficiency ORPHA:890
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Iliac crest serration, Flat acetabular r... OMIM:223800
Fanconi Anemia, Complementation Group O
Cryptorchidism, Hypoplasia of the radius, Anal atresia, Hydronephrosis, Rectal atresia, Short thu... OMIM:613390
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis, Type II diabetes mellitus,... ORPHA:91
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Insulin-resistant diabet... OMIM:233805
Autoimmune Lymphoproliferative Syndrome
Abnormal serum interleukin level, Decreased specific anti-polysaccharide antibody level, Thyroidi... ORPHA:3261
11Q22.2Q22.3 Microdeletion Syndrome
Drooling, Bilateral single transverse palmar creases, Thin upper lip vermilion, Small hand, Depre... ORPHA:444002
Immunodeficiency By Defective Expression Of Mhc Class Ii
Chronic hepatitis due to cryptosporidium infection, Skin rash, Decreased circulating beta-2-micro... ORPHA:572
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Metaphyseal irregularity, Swan neck-like deformities of the fingers, Metaphy... OMIM:616716
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity OMIM:615418
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Hepatitis ORPHA:363523
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Downturned corners of mouth, Wide nasal bridge, Thin upper lip vermilion, Clinodactyly of the 5th... ORPHA:352530
Legionnaires Disease
Endocarditis, Pericarditis, Cellulitis, Myocarditis, Hyponatremia, Jaundice, Hepatitis, Encephali... ORPHA:549
Aspergillosis
Increased circulating IgE level, Bronchiectasis, Pneumonia, Hepatitis, Keratitis, Encephalitis, S... ORPHA:1163
Chromosome 16P13.3 Deletion Syndrome, Proximal
Broad thumb, Polysplenia, Broad hallux, Failure to thrive, Prominent nose, High palate, Clinodact... OMIM:610543
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Bulbous nose, Anteverted nares, Sandal gap, Wide nasal bridge,... ORPHA:2180
Marshall Syndrome
Radial bowing, Long philtrum, Absent frontal sinuses, Short nose, Thick lower lip vermilion, Pier... OMIM:154780
Schaaf-Yang Syndrome
Rocker bottom foot, Cryptorchidism, Abnormality of the philtrum, Open mouth, Micropenis, Camptoda... OMIM:615547
Proteus Syndrome
Facial hyperostosis, Calvarial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Momo Syndrome
Abnormal bone ossification, Short sternum, Large hands, Tall stature, Overgrowth, Congenital pseu... ORPHA:2563
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Short humerus, Abnormality of t... ORPHA:2491
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Polydactyly, Postaxial polydactyly, Truncal obesity, Syndactyly, Post... OMIM:615986
Faciocardiomelic Syndrome
Hypoplastic pelvis, Polydactyly, Slender long bone, Thin bony cortex, Osteopenia, Large for gesta... OMIM:612731
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Long philtrum, Nephrocalcinosis, Short nose, Open mouth, Downturned corners of mouth, Deep philtr... OMIM:615398
Stuve-Wiedemann Syndrome
Osteoporosis, Contracture of the proximal interphalangeal joint of the 5th finger, Short phalanx ... OMIM:601559
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Skin rash, Cellulitis, Elevated circulating creatinine concentration, ... ORPHA:36234
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Carious teeth, Absent proximal phalanx of thumb, Nephrosclerosis, Partial dupl... OMIM:149730
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Solitary Fibrous Tumor/Hemangiopericytoma
Hypophosphatemic rickets, Abnormality of the peritoneum, Hypoglycemia, Neoplasm of the liver, Hyp... ORPHA:2126
Acheiropody
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... OMIM:200500
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Postaxial polydactyly, Hamartoma of tongue, Short digit, Micropenis, Femo... OMIM:613091
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Dent Disease
Bulging epiphyses, Metaphyseal irregularity, Enlarged epiphyses, Rickets, Osteomalacia, Bowing of... ORPHA:1652
Osteogenesis Imperfecta, Type Viii
Radial bowing, Wide anterior fontanel, Tibial bowing, Slender long bone, Decreased skull ossifica... OMIM:610915
Bloom Syndrome
Skin rash, Insulin resistance, Decreased circulating antibody level, Adipose tissue loss, Uveitis... ORPHA:125
Lymphoproliferative Syndrome, X-Linked, 1
Increased circulating IgM level, Decreased circulating antibody level, Hepatomegaly, Fulminant he... OMIM:308240
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Dislocated radial head, Metaphyseal irregularity, Carpal bone hypoplasia, Hypoplasia of the ulna,... OMIM:618395
Phocomelia, Schinzel Type
Radial bowing, Cryptorchidism, Hypoplasia of the radius, Abnormality of tibia morphology, Humeror... ORPHA:2879
Rothmund-Thomson Syndrome Type 1
Metaphyseal sclerosis, Short phalanx of finger, Abnormal trabecular bone morphology, Abnormality ... ORPHA:221008
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Jaundice, Camptodactyly of finger, Cholelithiasis, Giant cell hepatitis OMIM:214980
Fibrous Dysplasia Of Bone
Osteolysis, Patchy reduction of bone mineral density, Abnormality of tibia morphology, Abnormalit... ORPHA:249
2Q37 Microdeletion Syndrome
Thin vermilion border, Underdeveloped nasal alae, Downturned corners of mouth, Bilateral single t... ORPHA:1001
Xylt1-Cdg
Long philtrum, Broad thumb, Thick vermilion border, Hepatomegaly, Short long bone, Clinodactyly, ... ORPHA:370930
Congenital Enterovirus Infection
Skin rash, Cholestasis, Hepatitis, Hypoalbuminemia, Hepatic failure, Myocarditis, Encephalitis, H... ORPHA:292
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Oligodactyly, Tarsal... ORPHA:2756
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Achondroplasia
Limited elbow extension, Short proximal phalanx of finger, Anteverted nares, Trident hand, Short ... ORPHA:15
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Hyperornithinemia, Hepatomegaly, Decreased liver function, Hyperammonemia OMIM:238970
Helsmoortel-Van Der Aa Syndrome
Long philtrum, Advanced eruption of teeth, Short nose, Everted lower lip vermilion, Wide mouth, S... OMIM:615873
Smith-Kingsmore Syndrome
Deep palmar crease, Short proximal phalanx of finger, Cryptorchidism, Long philtrum, Short nose, ... OMIM:616638
Acromesomelic Dysplasia, Maroteaux Type
Radial bowing, Limited elbow extension, Hypoplasia of the radius, Short metatarsal, Short phalanx... OMIM:602875
Immunodeficiency 43
Radial bowing, Recurrent respiratory infections, Hypoplasia of the ulna, Bronchiectasis OMIM:241600
Oncogenic Osteomalacia
Abnormality of the tarsal bones, Abnormal pelvis bone morphology, Tibial bowing, Fibrous dysplasi... ORPHA:352540