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Gene: Eif2ak3 MGI:1341830

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

eukaryotic translation initiation factor 2 alpha kinase 3

Synonyms:

PERK

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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 Eif2ak3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Eif2ak3 (2 diseases)
Human diseases predicted to be associated with Eif2ak3 (833 diseases)

The table below shows human diseases associated to Eif2ak3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Wolcott-Rallison Syndrome		Hepatomegaly, Short stature, Neonatal insulin-dependent diabetes mellitus, Jaundice, Central hypo...	ORPHA:1667
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus		Hepatomegaly, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the toes, Sho...	OMIM:226980

The table below shows human diseases predicted to be associated to Eif2ak3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Maturity-Onset Diabetes Of The Young, Type 4	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6	Maturity-onset diabetes of the young	OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-onset diabetes of the young	OMIM:125851
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus	OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 7	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:610508
Type 1 Diabetes Mellitus 20	Type I diabetes mellitus	OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9	Maturity-onset diabetes of the young	OMIM:612225
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Pancreatic Agenesis 2	Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypopla...	OMIM:615935
Pancreatic Colipase Deficiency	Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreat...	ORPHA:309108
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Short stature, Steatorrhea, Exocrine pancreatic insufficiency	OMIM:618752
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin...	OMIM:606762
Pancreatic Agenesis 1	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc...	OMIM:260370
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency	OMIM:609812
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex...	OMIM:167800
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Bile Acid Malabsorption, Primary, 1	Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failur...	OMIM:613291
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Splenomegaly, Jaundice, Steatorrhea, Failure to thrive, Exocrine pancreatic insuffi...	OMIM:612714
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati...	OMIM:615710
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Short stature, Celiac disease, Hepatosplenomegaly, Abnormal intestine morphology, Delayed puberty...	OMIM:615952
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Wolman Disease	Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Esophageal varix, Growth delay, Adre...	ORPHA:75233
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Diarrhea, Steatorrhea, Hepatic fibrosis, Vomiting, Cirrhosis, Hype...	OMIM:602579
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Intrauterine growth retardation, Hyperglycemia, Transient neonatal diab...	OMIM:601410
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Diabetes mellitus, Ulnar deviation of the 3rd finger, Ataxia, Proximal placement of...	ORPHA:456312
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction, Functional intestina...	ORPHA:1333
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, A...	OMIM:607765
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Short stature, Pancreatic fibrosis, Postnatal growth retardation...	OMIM:616263
Chylomicron Retention Disease	Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay, Vomiting, Stea...	OMIM:246700
Glycogen Storage Disease Vi	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Postnatal growth ...	OMIM:232700
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c...	ORPHA:276608
Johanson-Blizzard Syndrome	Diabetes mellitus, Short stature, Malabsorption, Abnormality of the pancreas, Anteriorly placed a...	ORPHA:2315
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in...	OMIM:615237
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ...	OMIM:269200
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Short stature, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia	ORPHA:329249
Shwachman-Diamond Syndrome 2	Hepatomegaly, Short stature, Diarrhea, Steatorrhea, High palate, Hyperechogenic pancreas, Failure...	OMIM:617941
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:608600
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Malabsorption, Cryptorchidism, Hypohidrosis, Exocrine pancreatic insuffici...	ORPHA:452
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Diabetes mellitus, Short stature, Short neck, Osteoporosis, Delayed thelarche, Scol...	OMIM:616033
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Osteoporosis, Abno...	ORPHA:79230
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Chylomicron Retention Disease	Hypertriglyceridemia, Hypocholesterolemia, Diarrhea, Growth delay, Fat malabsorption, Vomiting, S...	ORPHA:71
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hypoglycemia, Short stature, Osteoporosi...	ORPHA:369
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, Steatorrhea, Failure to...	OMIM:235555
Cholesteryl Ester Storage Disease	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Adrenal calcification, Portal hypertension...	OMIM:278000
Mahvash Disease	Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g...	OMIM:619290
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Short stature, Hyperlordosis, Cryptorchidism, Osteoporosis, Scoliosis	ORPHA:408
Donohue Syndrome	Postnatal growth retardation, Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Se...	OMIM:246200
Wolcott-Rallison Syndrome	Hepatomegaly, Short stature, Neonatal insulin-dependent diabetes mellitus, Jaundice, Central hypo...	ORPHA:1667
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Short stature, Splenomegaly, Abnormal limb bone mor...	ORPHA:2204
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hy...	OMIM:600955
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Short stature, Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant dia...	OMIM:262190
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Short stature, Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal ...	ORPHA:171706
Bile Acid Malabsorption, Primary, 2	Chronic diarrhea, Copper accumulation in liver, Periportal fibrosis, Prolonged neonatal jaundice,...	OMIM:619481
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Jaundice, Cholestasis, Steatorr...	ORPHA:79303
Isolated Sedoheptulokinase Deficiency	Short stature, Portal hypertension, Hepatitis, Cholestasis, Severe postnatal growth retardation, ...	ORPHA:440713
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of...	ORPHA:2790
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Splenomegaly, Jaundice, Diarrhea, Hepa...	OMIM:613812
Hypercholanemia, Familial 1	Fat malabsorption, Failure to thrive, Steatorrhea	OMIM:607748
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Hepatomegaly, Metaphyseal dysplasia, Short stature, Elevated circulating aspartate ...	OMIM:614727
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Constipation, Adrenoco...	ORPHA:97283
Pituitary Hormone Deficiency, Combined, 4	Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins...	OMIM:262700
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Rauch-Steindl Syndrome	Hepatomegaly, Short stature, Postnatal growth retardation, Chronic constipation, Intrauterine gro...	OMIM:619695
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Episodic hy...	ORPHA:276575
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia, Camptodactyly of finger, Ataxia, Short stature, Hypogonadotropic hypogonadism, Kyph...	ORPHA:48431
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation...	ORPHA:276580
Coronary Artery Disease, Autosomal Dominant 2	Impaired glucose tolerance, Osteoporosis, Gout, Glucose intolerance, Type II diabetes mellitus	OMIM:610947
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Myocardial necrosis, Short stature, Ovoid vertebral ...	OMIM:260400
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Perrault Syndrome 1	Ataxia, Short stature, Increased circulating gonadotropin level, Osteoporosis, Gait ataxia, High ...	OMIM:233400
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Small for gestational age, Malabsorption, Chr...	OMIM:557000
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Micromeli...	ORPHA:2635
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogona...	ORPHA:453533
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy...	ORPHA:71526
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,...	OMIM:619418
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t...	ORPHA:79644
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Small for gestational age, Growth delay, High palate, Type I diabetes mellitu...	OMIM:618500
Hypergonadotropic Hypogonadism-Cataract Syndrome	Short stature, Recurrent fractures, Hypergonadotropic hypogonadism, Increased circulating gonadot...	ORPHA:2410
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi...	ORPHA:139507
Pancreatic insufficiency, combined exocrine	Anal atresia, Exocrine pancreatic insufficiency	OMIM:260450
Pancreatic Lipase Deficiency	Fat malabsorption, Hypocholesterolemia, Steatorrhea	OMIM:614338
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidrosis, Hypoglyce...	ORPHA:276556
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus,...	OMIM:604367
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Malabsorption, Diarrhea, Steatorrhea, Weight loss, Hem...	ORPHA:2070
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism	OMIM:307500
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the toes, Sho...	OMIM:226980
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Diarrhea, Hyperinsulinemia, Vomiting, Abnormal intestine morphology, Failure to thrive	OMIM:606528
Celiac Disease, Susceptibility To, 1	Short stature, Stomatitis, Postnatal growth retardation, Celiac disease, Diarrhea, Thyroiditis, S...	OMIM:212750
Winchester Syndrome	Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os...	OMIM:277950
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Failure to thrive, Hypocholesterolemia, Steatorrhea	OMIM:266510
Glucagonoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Constipation, Adrenoco...	ORPHA:97280
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Weight loss, Growth delay, Colitis, Steatorrhea, Exocrine pancreatic insufficiency	ORPHA:309031
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Malabsorption, Glucose intolerance, Cirrhosis, Glycosuria, Failure to thrive, Exocrine pancreatic...	OMIM:616539
Deeah Syndrome	Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test, Anterior pitu...	OMIM:619004
Shwachman-Diamond Syndrome	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Diabetes mellitus, Osteomyelitis, Decrea...	ORPHA:811
Bone Marrow Failure Syndrome 3	Metaphyseal dysplasia, Short stature, Pancreatic steatosis, Cryptorchidism, Reduced bone mineral ...	OMIM:617052
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl...	ORPHA:324575
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Malabsorption, Splenome...	ORPHA:79301
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl...	ORPHA:79239
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Metaphyseal dysplasia, Short stature, Fractures of the long bones, Osteoporosis, Hype...	ORPHA:319195
Hereditary Sensory And Autonomic Neuropathy Type 2	Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Hyp...	ORPHA:970
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism	OMIM:615269
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati...	ORPHA:79084
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Waddling gait, Metaphyseal dysplasia, Short stature, Bowing of the legs, Reduced bone mineral den...	OMIM:617974
Avascular Necrosis Of Femoral Head, Primary, 1	Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis	OMIM:608805
Cystic Fibrosis	Hepatomegaly, Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Biliary cirrhosis, Hepatosplenome...	OMIM:219700
Sialidosis Type 2	Hepatomegaly, Ataxia, Short stature, Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis	ORPHA:87876
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Abnormal metacarpophalangeal joint morpholog...	ORPHA:465508
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Kyphosis, Osteoporosis, Macrovesicular hepatic steatosis, Scoliosis	OMIM:618234
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Ck Syndrome	Hyperlordosis, Kyphosis, High palate, Scoliosis, Abnormal cortical bone morphology, Abnormal digi...	OMIM:300831
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Preaxial hand polydacty...	OMIM:175700
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypothyroidism, ...	ORPHA:699
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Reduced bone mineral density, Platyspon...	OMIM:265900
Infantile Systemic Hyalinosis	Abnormality of the gastrointestinal tract, Severe short stature, Malabsorption, Chronic diarrhea,...	ORPHA:2176
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Proteus Syndrome	Kyphoscoliosis, Splenomegaly, Facial hyperostosis, Spinal canal stenosis, Calvarial hyperostosis,...	OMIM:176920
Flynn-Aird Syndrome	Increased bone mineral density, Ataxia, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased ...	OMIM:136300
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty...	ORPHA:3152
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Kyphosis, Insulin resistance, Ele...	OMIM:615381
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype...	OMIM:620211
Trichohepatoneurodevelopmental Syndrome	High palate, Gastroesophageal reflux, Bilateral coxa valga, Clinodactyly of the 5th finger, Hypot...	OMIM:618268
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Type I diabetes mellitus, Intrauterine growth retar...	OMIM:606176
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis, Short stature	ORPHA:2786
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Bowing of the long bones, Diabetes mellitus, Impaired glucose tolerance...	ORPHA:2088
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Large for gestational age, Diarrhea, Hyperinsulinemia, Increased body weight, Hyper...	ORPHA:263455
Pseudopseudohypoparathyroidism	Short metacarpal, Short stature, Short neck, Short metatarsal, Osteoporosis, Pseudohypoparathyroi...	OMIM:612463
Extensor Tendons Of Finger Anomalies	Limitation of joint mobility, Osteoporosis, Camptodactyly of finger	ORPHA:3294
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper...	ORPHA:2298
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct...	ORPHA:249
Premature Ovarian Failure 2B	Osteoporosis, Delayed puberty	OMIM:300604
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Diabetes mellitus, Hypothyroidism, Jaundice, Pyloric stenosis, Aplasia/Hypoplasia of the pancreas...	ORPHA:93111
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia, Flexion contracture	OMIM:618856
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti...	OMIM:610475
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Osteoporosis	OMIM:233300
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Intestinal malrotation, Small fo...	ORPHA:2255
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Coxa valga, Cryptorchidism, Osteoporosis, Finger clinodactyly, Bilateral talipes equinovarus	ORPHA:2958
Prieto Syndrome	Coxa valga, Cryptorchidism, Osteoporosis, Talipes equinovarus, Radial deviation of finger, Clinod...	OMIM:309610
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Failure to thrive, Splenomegaly, Chronic diarrhea, Cholestasis, H...	OMIM:300972
Cystic Fibrosis	Meconium ileus, Malabsorption, Rectal prolapse, Abnormality of the liver, Gastroesophageal reflux...	ORPHA:586
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Orofaciodigital Syndrome Type 1	Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Fing...	ORPHA:2750
Forsythe-Wakeling Syndrome	Growth delay, Osteoporosis, Short stature	OMIM:613606
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip...	OMIM:619795
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Hepatomegaly, Impaired glucose tolerance, Coxa valga, Joint stiffness, Postnatal grow...	OMIM:248370
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis, Delayed puberty	OMIM:615271
Bruck Syndrome 1	Joint laxity, Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Osteoporosis, ...	OMIM:259450
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol...	OMIM:234250
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T...	ORPHA:53697
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Abnormality of the gastrointestinal tract, Short stature, Ketotic hypoglycemia, Hyperlipidemia, G...	ORPHA:2089
Familial Hyperprolactinemia	Osteopenia, Hemorrhagic ovarian cyst, Osteoporosis, Female hypogonadism	ORPHA:397685
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Short stature, Osteoporosis, Vomiting, Constipation, Lethargy, Pancre...	OMIM:606054
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Metaphyseal widening, Delayed epiphyseal ossification...	ORPHA:750
Mu-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Osteoporosis, Osteolysis	ORPHA:100024
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger	ORPHA:2787
Pancreatic And Cerebellar Agenesis	Failure to thrive, Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Hyper...	OMIM:609069
Estrogen Resistance Syndrome	Osteopenia, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Increased circulating g...	ORPHA:785
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph...	ORPHA:93351
Schwartz-Jampel Syndrome, Type 1	Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Metaphyseal widening, Coxa vara, A...	OMIM:255800
Progressive Pseudorheumatoid Dysplasia	Waddling gait, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joint st...	OMIM:208230
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea	ORPHA:3217
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ...	OMIM:251450
Warburg Micro Syndrome 1	Overlapping toe, Short stature, Kyphoscoliosis, Cryptorchidism, Osteoporosis, Joint hypermobility	OMIM:600118
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Premature thelarche, Abnormal hand morphology, Osteolysis involving bones of the uppe...	ORPHA:371428
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Ataxia, Diarrhea, Osteoporosis, Rickets, Vomiting, Type I diabetes mellitus	OMIM:560000
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Ataxia, Coxa valga, Joint stiffness, Splenomegaly, Protruding tongue, Patent ductus...	OMIM:230600
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Gastroesophageal reflux, Osteoporosis, Ataxia, Intermittent diarrhea	OMIM:619971
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Mucopolysaccharidosis, Type Iva	Waddling gait, Hepatomegaly, Joint laxity, Ovoid vertebral bodies, Coxa valga, Short neck, Hyperl...	OMIM:253000
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Kyphoscoliosis, Coxa valga, Cryptorchidism, Insulin resistance, Flexion contr...	OMIM:214150
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Arachnodactyly, Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, High palate, Scoliosi...	OMIM:236200
Spondyloepiphyseal Dysplasia, Stanescu Type	Waddling gait, Stiff neck, Short stature, Kyphoscoliosis, Coxa valga, Joint stiffness, Vertebral ...	OMIM:616583
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis...	ORPHA:3409
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Low back pain, Hypoglycemia, Neoplasm of the liver, Recurrent hyp...	ORPHA:2126
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short...	OMIM:271630
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Tapered finger, Craniosynos...	OMIM:620005
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab...	OMIM:137920
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Nausea, Jaundice, Insulin-dependent but ketosis-res...	ORPHA:103918
Eiken Syndrome	Absence of the sacrum, Abnormal trabecular bone morphology, Thin bony cortex, Short stature, Abno...	ORPHA:79106
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age	OMIM:618858
Congenital Disorder Of Glycosylation, Type Ia	Hepatic steatosis, Hepatomegaly, Villous atrophy, Hypergonadotropic hypogonadism, Diarrhea, Hepat...	OMIM:212065
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short stature, Short neck, Short toe, Short metatarsal, Osteoporosis, Pseudohyp...	OMIM:103580
Cystinosis, Nephropathic	Hepatomegaly, Diabetes mellitus, Short stature, Oral-pharyngeal dysphagia, Splenomegaly, Metaphys...	OMIM:219800
Rothmund-Thomson Syndrome, Type 1	Male hypogonadism, Osteoporosis, Hypothyroidism, Short stature	OMIM:618625
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Brachydactyly, Thoracic scoliosis, Osteo...	ORPHA:2959
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Coxa vara, Irregular vertebral endplates, Genu varum, Waddling ...	ORPHA:1159
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Adrenal hyperplasia, Diabetes mellitus, Osteoporosis, Increased circulating cortisol ...	OMIM:615830
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp...	OMIM:235200
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Diarrhea, Flexion contracture, Osteoporosis, Osteol...	OMIM:228600
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Waddling gait, Hip contracture, Broad radial metaphysis, Abnormal intervertebral disk morphology,...	ORPHA:99642
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia, Ataxia	OMIM:618970
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short stature, Short neck, Elevated circulating thyroid-stimulating hormone con...	OMIM:612462
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse...	ORPHA:2501
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Diarrhea, Intermittent jaund...	OMIM:601847
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Cervical hemivertebrae, Broad hallux, Overlapping toe, Short stature, Short n...	ORPHA:508498
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Unsteady gait, Type II diabetes mellitus	OMIM:520000
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Beta-Thalassemia Intermedia	Osteopenia, Hepatomegaly, Hypoparathyroidism, Diabetes mellitus, Hepatocellular carcinoma, Spleno...	ORPHA:231222
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delayed epiphyseal ossifi...	OMIM:600785
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Glycosuria, Intraut...	ORPHA:99885
Osteoporosis	Osteoporosis	OMIM:166710
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Glossoptosis, Waddli...	ORPHA:94068
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m...	OMIM:616329
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Absence of pubert...	OMIM:610628
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Adrenal calcification, Cachexia, Hypersplenism, Microvesicular hepatic stea...	ORPHA:275761
Tenorio Syndrome	Osteopenia, Joint laxity, Hypoglycemia, Macroglossia, Gait disturbance, Gastroesophageal reflux, ...	OMIM:616260
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria	OMIM:618857
Methylcobalamin Deficiency Type Cble	Syndactyly, Postnatal growth retardation, Osteoporosis, Abnormality of the liver, Vomiting, Scoli...	ORPHA:2169
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Short stature, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Ost...	ORPHA:93160
Epiphyseal Dysplasia, Multiple, 7	Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebral wedging, Platyspondy...	OMIM:617719
Familial Renal Glucosuria	Insulin resistance, Moderate postnatal growth retardation, Abnormal circulating insulin concentra...	ORPHA:69076
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Disproportionate s...	OMIM:609223
Bile Acid Synthesis Defect, Congenital, 6	Steatorrhea	OMIM:617308
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Zollinger-El...	ORPHA:276152
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Hyperhidros...	ORPHA:231140
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Flexion contracture, Hyperinsulinemia, Growth delay, Glucose...	OMIM:608612
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Waddling gait, Joint laxity, Short stature, Isosexual precocious puberty, Metaphyseal...	ORPHA:2788
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Severe short stature, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, M...	OMIM:609052
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypoglycemia, Short stature, Postnatal growth retardation, Insulin resistance, Osteoporosis, Seve...	ORPHA:73272
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Severe short stature, Abnormal femoral head morphology, Short toe, Limitation of join...	ORPHA:2619
Niemann-Pick Disease, Type A	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Splen...	OMIM:257200
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Biconvex vertebral bodies, Short stature, Micromelia, Metaphysea...	OMIM:184260
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly...	ORPHA:166277
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Osteoporosis...	OMIM:219080
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Peptic ulcer, Elevated circulating grow...	ORPHA:2796
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypoglycemia, Decreased response to growth hormone stimulation test, Hypogonadotropic...	ORPHA:95619
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delayed...	OMIM:264700
Mucopolysaccharidosis, Type Ivb	Joint laxity, Hepatomegaly, Ataxia, Ovoid vertebral bodies, Coxa valga, Hyperlordosis, Hypoplasia...	OMIM:253010
Bangstad Syndrome	Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa...	ORPHA:1227
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delayed...	OMIM:277440
Hypocalcemic Vitamin D-Dependent Rickets	Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, ...	ORPHA:289157
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Anterio...	ORPHA:1426
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Short stature, Ketotic hypoglycemia, Hepatocellular ...	ORPHA:79240
Short Stature, Dauber-Argente Type	Long toe, Osteopenia, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth...	OMIM:619489
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hyperlordosis, Spinal rigidity, Splenome...	OMIM:613327
Combined Oxidative Phosphorylation Deficiency 54	Intrauterine growth retardation, Hyperglycemia, Hypergonadotropic hypogonadism, Obesity	OMIM:619737
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Hype...	ORPHA:3206
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Toe syndactyly, Hypoglycemia, Short neck, Cryptorchi...	OMIM:618958
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Cryptorchidism, Osteoporosis, Cleft palate, Genu valgum, Small pituitary gland, Decre...	OMIM:614880
Bruck Syndrome	Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor...	ORPHA:2771
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov...	ORPHA:280356
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis, Obesity	OMIM:620195
Lethal Congenital Contracture Syndrome Type 1	Short stature, Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal form of th...	ORPHA:1486
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:151660
Necrotizing Enterocolitis	Small for gestational age, Peritonitis, Diarrhea, Bloody diarrhea, Vomiting, Abnormal glucose hom...	ORPHA:391673
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Severe short stature, Thoracolumbar sco...	OMIM:313420
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Bowing of the legs, ...	OMIM:613849
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Short stature, Nausea, Splenomegaly, D...	ORPHA:264580
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Short stature, Delayed puberty, Osteop...	OMIM:232200
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Short stature, Recurrent fractures, Reduc...	ORPHA:2235
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Osteoporosis, Short stature	ORPHA:71267
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Short stature, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular v...	OMIM:604864
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Anisospondyly, Caudal a...	OMIM:156530
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Short stature, Sp...	OMIM:232220
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Metaphyseal widening, Delayed epiphyseal ossification, Abnormal v...	ORPHA:93352
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaund...	OMIM:211600
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Kyphosis, Pituitary adenoma, Osteoporosis, Increased circulating ACTH...	OMIM:219090
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Abnormal finger morphol...	ORPHA:73
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Short stature, Wide anterior fontanel, Patent ductus arteriosus, G...	OMIM:614886
Grant Syndrome	Bowing of the long bones, Short stature, Decreased skull ossification, Joint hyperflexibility, Ab...	ORPHA:2097
19P13.3 Microduplication Syndrome	Unilateral cryptorchidism, Kyphoscoliosis, Precocious puberty, Long fingers, Osteoporosis, Cleft ...	ORPHA:447980
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism...	ORPHA:398079
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex...	OMIM:601346
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Short stature, Restricted large joint movement, Disproportionate short-trunk short stature, Platy...	ORPHA:163665
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hepatic fibrosis, Vomit...	ORPHA:79319
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Vertebra...	OMIM:610967
Rhyns Syndrome	Osteopenia, Radial bowing, Short stature, Decreased response to growth hormone stimulation test, ...	OMIM:602152
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Multiple small vert...	OMIM:156510
Abetalipoproteinemia	Hepatomegaly, Hypocholesterolemia, Hypothyroidism, Chronic diarrhea, Hepatic fibrosis, Vomiting, ...	ORPHA:14
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Flared metaphy...	ORPHA:93346
Atelosteogenesis Type I	Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a...	ORPHA:1190
Geroderma Osteodysplastica	Severe short stature, Recurrent fractures, Vertebral compression fracture, Osteoporosis, Abnormal...	ORPHA:2078
Ruijs-Aalfs Syndrome	Thoracic kyphoscoliosis, Short stature, Elbow flexion contracture, Osteoporosis, Hypogonadism, He...	OMIM:616200
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Delayed ep...	ORPHA:93314
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Vertebral hypoplasia, Joint l...	OMIM:602557
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Hypocholesterolemia, Steatorrhea	OMIM:615558
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth retardation, Splenomegaly, Gro...	OMIM:613027
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyl...	OMIM:126550
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Hyperlipidemia	OMIM:604484
Short Syndrome	Joint laxity, Insulin resistance, Insulin-resistant diabetes mellitus, Clinodactyly, Birth length...	OMIM:269880
Temple Syndrome	Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ...	ORPHA:254516
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Short stature, Kyphosis, Reduced bone mineral density, Delayed ossification of car...	OMIM:618392
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Hypoglycemia, Large for gestational age, Cryptorchidism,...	ORPHA:116
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ...	OMIM:615925
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98754
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar...	ORPHA:77296
Fanconi-Bickel Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Osteomalacia, Malabs...	OMIM:227810
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Lethargy, Hypothalamic lute...	ORPHA:398069
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Waddling gait, Short metacarpal, Joint laxity, Short stature, Camptodactyly of finger...	OMIM:612350
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont...	OMIM:259600
Rabson-Mendenhall Syndrome	Enlarged ovaries, Short stature, Impaired glucose tolerance, Precocious puberty, Hypothyroidism, ...	ORPHA:769
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol...	OMIM:614856
Acquired Aneurysmal Subarachnoid Hemorrhage	Vomiting, Hyperglycemia, Hypercholesterolemia, Hypopituitarism, Hypothyroidism, Nausea	ORPHA:90065
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi...	ORPHA:1310
Dominant Beta-Thalassemia	Hypoparathyroidism, Bowing of the long bones, Diabetes mellitus, Hypersplenism, Splenomegaly, Jau...	ORPHA:231226
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98793
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent...	OMIM:262600
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short 4th metacar...	OMIM:619638
Cantu Syndrome	Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Short neck, Metaphyseal widening,...	OMIM:239850
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density, Scoliosis, Ab...	ORPHA:2370
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Short stature, Short neck, Osteoporosis, Disproportionat...	ORPHA:85194
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypoglycemia, Short stature, Chronic pancreatitis, Cryptorchidism, Ost...	OMIM:307030
Autosomal Recessive Primary Microcephaly	Growth delay, Abnormal cortical bone morphology, Short stature	ORPHA:2512
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Waddling gait, Short stature, Thoracic platyspondy...	ORPHA:166011
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Protein-losing enteropathy, Vomiting, Elevated hepatic ir...	OMIM:619991
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177904
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Severe short stature, Osteoporosis	OMIM:204730
Perlman Syndrome	Hepatomegaly, High, narrow palate, Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology	ORPHA:2849
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hypoglycemia, Growth delay, Vomiting, Hyperglycemia, Failure to thrive	OMIM:615453
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Reduced bone min...	ORPHA:172
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Xerostomia, Vomiting, Prematur...	ORPHA:739
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177901
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Back pain, Spastic ataxia, Kyphoscoliosis, Cervical spondylosis, Pseudobulbar paralysis, Gait dis...	ORPHA:199354
Functioning Gonadotropic Adenoma	Osteopenia, Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, ...	ORPHA:91348
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Thin bony cortex, Recurrent fractures, Decreased circulating parathyroid hormone level, Bowing of...	OMIM:241530
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Short stature, Splenomegaly, Proximal femoral metaphyseal irregularity, Disproportion...	OMIM:602271
Mycetoma	Back pain, Osteomyelitis, Bone cyst, Osteoporosis, Abnormal forearm bone morphology, Abnormal for...	ORPHA:2583
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Geroderma Osteodysplasticum	Beaking of vertebral bodies, Hyperextensibility of the finger joints, Osteopenia, Severe short st...	OMIM:231070
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Osteoporosis, Joint hyperflexibil...	ORPHA:1515
Alagille Syndrome 1	Elevated hepatic transaminase, Hypoplasia of the ulna, Hepatocellular carcinoma, Hemivertebrae, C...	OMIM:118450
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
8Q24.3 Microdeletion Syndrome	Thoracic scoliosis, Ectopic posterior pituitary, Micromelia, Short neck, Finger clinodactyly, Gas...	ORPHA:508488
Shashi-Pena Syndrome	Short metacarpal, Hypoglycemia, Kyphosis, Patent ductus arteriosus, Osteoporosis, Scoliosis, Cerv...	OMIM:617190
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Celiac...	OMIM:618985
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Ovarian Dysgenesis 8	Elevated circulating luteinizing hormone level, Osteoporosis, Decreased serum estradiol, Elevated...	OMIM:618187
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platyspondyly, Disp...	OMIM:619131
Estrogen Resistance	Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia...	OMIM:615363
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Broad-based gait, Short stature, Recurrent fractures, Ky...	OMIM:309583
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Idiopathic Juvenile Osteoporosis	Recurrent fractures, Kyphosis, Osteoporosis, Gait disturbance, Vertebral compression fracture	ORPHA:85193
Indolent Systemic Mastocytosis	Splenomegaly, Hepatomegaly, Osteoporosis	ORPHA:98848
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, Short stature, Taper...	OMIM:300998
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc...	ORPHA:71529
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Short stature, Coxa valga, Osteolytic defect...	ORPHA:2484
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hypogonadotropic hypogonadism, Osteoporosis, Cleft palate, Clinodactyly, Decreased testicular size	OMIM:614838
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonadism, Kyphosis, Cryptor...	ORPHA:2232
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Ricke...	OMIM:600081
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Severe short stature, Osteomalacia, Coxa valga, Avascular necrosis of the capital fem...	ORPHA:1901
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Bowing of the long bones, Diabetes mellitus, Hypersplenism, Spl...	ORPHA:231214
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty	OMIM:615270
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Moderately short stature, Flexion con...	ORPHA:157965
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:618160
Lysinuric Protein Intolerance	Hepatomegaly, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Diarrh...	ORPHA:470
Dysspondyloenchondromatosis	Short stature, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abnormal fibula morpholo...	ORPHA:85198
Mccune-Albright Syndrome	Abnormal femur morphology, Aneurysmal bone cyst, Gastroesophageal reflux, Hyperthyroidism, Osteom...	ORPHA:562
Greenberg Dysplasia	Micromelia, Multiple prenatal fractures, Patchy variation in bone mineral density, Hypoplastic ve...	OMIM:215140
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Cryptorchidism, Facet joint arthrosis,...	OMIM:618000
Cranio-Osteoarthropathy	Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation of finger...	ORPHA:1525
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla...	ORPHA:1856
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Diarrhea, Weight loss, Vomiting, Hyperglycemia	ORPHA:134
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Short palm, Syndactyly, Short ...	OMIM:176270
Johanson-Blizzard Syndrome	Anteriorly placed anus, Hepatic fibrosis, Hypothyroidism, Hepatomegaly, Short stature, Portal hyp...	OMIM:243800
Pseudoachondroplasia	Limited hip extension, Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Sho...	OMIM:177170
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Hypogonadism, Osteoporosis, Absence of pubertal development	OMIM:615267
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Club-shaped proximal femur, Severe short stature, Hyperlordosis, Metaphyseal dappling, Hypoplasia...	OMIM:184250
Galactokinase Deficiency	Hepatomegaly, Hypoglycemia, Small for gestational age, Hypergonadotropic hypogonadism, Hyperinsul...	ORPHA:79237
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Osteoporosis, Growth delay, Camptodactyly, Intestinal lymphangiectasia	OMIM:616006
Werner Syndrome	Low back pain, Diabetes mellitus, Short stature, Elevated circulating aspartate aminotransferase ...	OMIM:277700
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen...	OMIM:610489
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid...	OMIM:619487
Bardet-Biedl Syndrome 9	Truncal obesity, Hyperglycemia, Obesity	OMIM:615986
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short stature, Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Short toe, Cryptorchidism...	ORPHA:3085
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Portal hypertension, Malabsorption, Hypersplenism, Diarrhea, Osteopo...	ORPHA:98850
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Kyphosis, Cryptorchidism, Congenital pyloric atresia, Reduced bone mineral ...	ORPHA:2617
Cystinosis	Short stature, Portal hypertension, Malabsorption, Nephrogenic diabetes insipidus, Rickets, Gait ...	ORPHA:213
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Clinodactyly, Coxa vara, Tibial bowing, Reduced bone mineral density, High palate, Ab...	ORPHA:93315
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Generalized joint...	ORPHA:432
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Perrault Syndrome 4	Increased circulating gonadotropin level, Osteoporosis, Cleft palate, Gait ataxia, Hypoplasia of ...	OMIM:615300
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Failure to thrive, Diabetes mellitus, Intestinal malrotation, Biliary atresia...	OMIM:600001
Familial Isolated Hyperparathyroidism	Osteopenia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Parathyr...	ORPHA:99879
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Finger clinodacty...	ORPHA:79474
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Duodenal atresia	ORPHA:1203
Lowry-Maclean Syndrome	Osteopenia, Craniosynostosis, Bilateral cryptorchidism, Abnormality of the abdominal organs, High...	ORPHA:2409
Leprechaunism	Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Insulin resistance, Rectal prolapse...	ORPHA:508
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Irregularity of vertebral bodies, Flat distal femoral epiphysis, Short stature, Proximal femoral ...	OMIM:609324
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon co...	OMIM:620351
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Short neck, Wide anterior fon...	ORPHA:163649
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Osteoporosis, Dysmetria, Gait ataxia, Difficulty walking	ORPHA:529665
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Short neck, Increased interverte...	OMIM:256050
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Esophageal stenosis, Recurrent fractur...	ORPHA:1775
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, ...	OMIM:613848
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower...	ORPHA:882
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Immunodeficiency 54	Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Adrenocorticotropic horm...	OMIM:609981
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ...	ORPHA:85184
Dystonia 31	Abnormal posturing, Difficulty walking, Dysphagia	OMIM:619565
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard...	ORPHA:168549
Aromatase Deficiency	Osteopenia, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ova...	ORPHA:91
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os...	OMIM:259440
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Hypoglycemia, Camptodactyly of finger, Short hallux, Aplasia/H...	ORPHA:2710
Seizures-Scoliosis-Macrocephaly Syndrome	Broad-based gait, Overlapping toe, Cryptorchidism, Reduced bone mineral density, Gastroesophageal...	ORPHA:466926
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Diabetes mellitus, Ataxia, Hyperthyroidism, Gastroparesis, Osteopo...	ORPHA:254892
Dent Disease 1	Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed e...	OMIM:300009
Spondyloepimetaphyseal Dysplasia, Irapa Type	Waddling gait, Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum,...	OMIM:271650
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hypercholest...	OMIM:615812
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Reduced bone mineral density, High palate, Vomiting, Gastroesophageal reflux, Hepatic...	OMIM:613658
Juvenile Paget Disease	Bowing of the long bones, Short stature, Recurrent fractures, Cranial hyperostosis, Osteoporosis,...	ORPHA:2801
Polyendocrine-Polyneuropathy Syndrome	Short stature, Anterior pituitary hypoplasia, Hypoglycemia, Hypogonadotropic hypogonadism, Postna...	OMIM:616113
Premature Aging Syndrome, Okamoto Type	Diabetes mellitus, Osteoporosis	OMIM:601811
Werner Syndrome	Increased bone mineral density, Short stature, Rocker bottom foot, Joint stiffness, Insulin resis...	ORPHA:902
Metaphyseal Chondrodysplasia, Schmid Type	Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin...	OMIM:156500
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Diarrhea, Osteoporosis	OMIM:601979
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypoglycemic seizures, Inflammation of the large intestine, Hypothyroidism, Hepatic s...	ORPHA:79259
Ollier Disease	Micromelia, Joint stiffness, Precocious puberty, Osteolysis, Platyspondyly, Abnormal metaphysis m...	ORPHA:296
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly, Cleft p...	OMIM:620210
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Lumbar hyperlordosis, Camptodactyly of finger, Bone cyst, Osteoporosis, Knee osteoarthritis, Coxa...	ORPHA:2848
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang...	OMIM:609616
Autosomal Dominant Brachyolmia	Short stature, Kyphoscoliosis, Increased vertebral height, Platyspondyly, Abnormal metaphysis mor...	ORPHA:93304
Nail-Patella Syndrome	Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy...	ORPHA:2614
Primary Sclerosing Cholangitis	Acute hepatic failure, Osteopenia, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma ...	ORPHA:171
Prolactinoma	Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormo...	ORPHA:2965
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Kyphosis, Wide...	OMIM:259420
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis...	OMIM:613471
Isolated Biliary Atresia	Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis...	ORPHA:30391
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Premature pubarche, Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endpla...	OMIM:612847
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Short palm, O...	ORPHA:198
Lenz-Majewski Hyperostotic Dwarfism	High, narrow palate, Abnormal finger morphology, Symphalangism affecting the phalanges of the han...	ORPHA:2658
Hypophosphatemic Rickets, X-Linked Recessive	Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed e...	OMIM:300554
Macs Syndrome	Joint laxity, Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Osteoporosis, High p...	OMIM:613075
46,Xx Gonadal Dysgenesis	Osteopenia, Streak ovary, Arachnodactyly, Ataxia, Short stature, Increased circulating gonadotrop...	ORPHA:243
Smith-Mccort Dysplasia 1	Waddling gait, Short metacarpal, Multicentric femoral head ossification, Short stature, Short nec...	OMIM:607326
Diamond-Blackfan Anemia 7	Osteopenia, Short thumb, Patent ductus arteriosus, Osteoporosis, Cleft palate, Growth delay, Scol...	OMIM:612562
Rothmund-Thomson Syndrome, Type 2	Short stature, Kyphoscoliosis, Short thumb, Cryptorchidism, Small hand, Osteoporosis, Short foot,...	OMIM:268400
Sickle Cell Anemia	Pigment gallstones, Osteomyelitis, Abnormality of the spleen, Osteoporosis, Cholestasis	ORPHA:232
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Ataxia, Short stature, Metaphyseal sclerosis, Postnatal gro...	OMIM:612199
Amish Lethal Microcephaly	Hepatomegaly, Cleft soft palate, Limitation of joint mobility, Osteoporosis, Decreased skull ossi...	ORPHA:99742
Spondylometaphyseal Dysplasia, A4 Type	Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Short palm	ORPHA:168555
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Elevated circulating luteinizing hor...	ORPHA:289548
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Short stature, Hypoplasia of the odontoid process, Small hand, ...	ORPHA:85172
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil...	OMIM:301068
Stuve-Wiedemann Syndrome 1	Short neck, Tibial bowing, Femoral bowing, Knee flexion contracture, Hyperhidrosis, Smooth tongue...	OMIM:601559
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp...	ORPHA:168558
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, High palate, Arachnodactyly, Osteo...	ORPHA:536467
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati...	OMIM:608940
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Short stature, Osteoporosis, Re...	OMIM:616507
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Short stature, Rick...	OMIM:616026
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, ...	OMIM:183900
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,...	ORPHA:289176
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia	OMIM:618406
Brachyolmia, Maroteaux Type	Platyspondyly, Short stature, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Spondyloepiphyseal Dysplasia, Kimberley Type	Proportionate short stature, Flat capital femoral epiphysis, Genu valgum, Platyspondyly, Genu varum	OMIM:608361
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Diabetes mellitus, Thoracolumbar scoliosis, Portal hypertension, Sagitt...	OMIM:610199
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Delayed epiphyseal ossificati...	OMIM:156550
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Short neck, Platyspondyly, Abn...	ORPHA:93267
Refractory Celiac Disease	Elevated hepatic transaminase, Villous atrophy, Malabsorption, Chronic diarrhea, Osteoporosis, Pr...	ORPHA:398063
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Short neck, Dislocated radial head, Rhizomelia, Short stature, Spatulate thumbs, Oste...	OMIM:245600
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Ataxia, Patent ductus arteriosus, Osteoporosis, High palate, ...	OMIM:615398
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Joint hypermobility, Kyphosis, Cryptorchidism, Osteopo...	OMIM:619718
Hajdu-Cheney Syndrome	Osteopenia, Short neck, High palate, Dislocated radial head, Joint laxity, Short stature, Cryptor...	OMIM:102500
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Decreased skull ossification, Partial absence of toe, Hepatomegaly, Short...	ORPHA:955
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Severe short stature, Short neck, Hypop...	OMIM:264180
Bruck Syndrome 2	Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Femoral bowing, Increa...	OMIM:609220
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoa...	ORPHA:666
Spondylometaphyseal Dysplasia, Kozlowski Type	Waddling gait, Irregular, rachitic-like metaphyses, Short neck, Kyphoscoliosis, Hypoplasia of the...	OMIM:184252
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Sho...	ORPHA:93324
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular scl...	OMIM:144750
Analbuminemia	Patent ductus arteriosus, Osteoporosis	OMIM:616000
Hypophosphatasia, Infantile	Micromelia, Bowing of the legs, Craniosynostosis, Vertebral clefting, Increased susceptibility to...	OMIM:241500
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Insulin resistance, Bone cyst, Hy...	ORPHA:528
Insulin-Like Growth Factor I Deficiency	Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ...	OMIM:608747
Wilson Disease	Acute hepatic failure, Osteoarthritis, Vomiting, Hepatic steatosis, Hypoparathyroidism, Hepatomeg...	OMIM:277900
Otospondylomegaepiphyseal Dysplasia	Short neck, Osteoarthritis, Tibial bowing, Glossoptosis, Abnormal vertebral morphology, Bifid uvu...	ORPHA:1427
Matthew-Wood Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology...	ORPHA:2470
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, Ri...	OMIM:307800
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ...	ORPHA:1517
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Abnormality of...	OMIM:618641
Menkes Disease	Joint laxity, Short stature, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Intrauterine ...	OMIM:309400
Tbck-Related Intellectual Disability Syndrome	Broad toe, Hyperthyroidism, Decreased response to growth hormone stimulation test, Short neck, In...	ORPHA:488632
Cleidocranial Dysplasia	Short stature, Recurrent fractures, Tapered finger, Abnormal thumb morphology, High, narrow palat...	ORPHA:1452
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Gastrointestinal hemorrhage, Short stature, Pyloric stenosis, Patent du...	ORPHA:363705
Kniest Dysplasia	Abnormality of the epiphysis of the femoral head, Short neck, Metaphyseal widening, Delayed epiph...	ORPHA:485
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Metaphyseal dysplasia, Kyphoscoliosis, Coxa valga, Disproportionate short stature, Platyspondyly,...	OMIM:617425
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Short stature, Sh...	ORPHA:333
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Short stature, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Fla...	OMIM:271600
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia, Short stature	ORPHA:66518
Spondyloocular Syndrome	Long toe, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Duodenal ulcer, Unilateral...	OMIM:605822
Anauxetic Dysplasia 1	Short neck, Thoracic kyphosis, Short palm, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short ...	OMIM:607095
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Short statur...	OMIM:239000
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Short stature, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Midgut malrot...	ORPHA:2326
Schimke Immunoosseous Dysplasia	Osteopenia, Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Bilateral cr...	OMIM:242900
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, F...	OMIM:620076
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Hypoglycemia, Splenomegaly, Growth delay, Paralytic il...	OMIM:276700
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia, Short stature, Obesity	ORPHA:369873
Axial Osteomalacia	Increased bone mineral density, Polycystic liver disease, Osteomalacia	OMIM:109130
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm...	ORPHA:93360
Primary Biliary Cholangitis	Portal hypertension, Celiac disease, Abnormality of the thyroid gland, Jaundice, Osteoporosis, He...	ORPHA:186
Bile Acid Synthesis Defect, Congenital, 4	Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged neonatal ja...	OMIM:214950
Schneckenbecken Dysplasia	Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Advanced ossification of carpal bo...	OMIM:269250
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Cryptorchidism, Pyloric stenosis, Flexion contracture, Osteoporosis, Elbow flexion co...	OMIM:614438
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Gastroesophageal reflux, Ataxia, Short stature, Hyperlordo...	ORPHA:354
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Waddling gait, Increased circulating osteocalcin level, Short stature, Osteomalacia, Decreased ci...	ORPHA:157215
Dyskeratosis Congenita, Autosomal Dominant 2	Short stature, Esophageal stricture, Chronic diarrhea, Osteoporosis, Hepatic fibrosis, Oral leuko...	OMIM:613989
Schwartz-Jampel Syndrome	Micromelia, Short neck, Coxa vara, High palate, Wrist flexion contracture, Abnormally ossified ve...	ORPHA:800
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Short stature, Decreased r...	OMIM:203800
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Pate...	OMIM:618961
Cerebrotendinous Xanthomatosis	Ataxia, Diarrhea, Osteoporosis, Pseudobulbar paralysis, Difficulty walking, Cholelithiasis	OMIM:213700
Nestor-Guillermo Progeria Syndrome	Short stature, Limited elbow movement, Joint stiffness, Decreased serum leptin, Flexion contractu...	OMIM:614008
Autosomal Recessive Stickler Syndrome	Short stature, Cleft palate, Genu valgum, Irregular vertebral endplates, Platyspondyly, Joint hyp...	ORPHA:250984
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Patent ductus arteriosus, Limitation of joint mobility, Osteoporosis, Clubbing, Osteo...	OMIM:259100
X-Linked Acrogigantism	Enlarged pituitary gland, Increased body mass index, Decreased thyroid-stimulating hormone level,...	ORPHA:300373
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Postnatal growth retarda...	OMIM:620366
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short neck, High, narrow palate, Reduced bone mineral density, Gastrointestinal infla...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Short neck, High, narrow palate, Reduced bone mineral density, Gastrointestinal infla...	ORPHA:99228
Monosomy X	Osteopenia, Short neck, High, narrow palate, Reduced bone mineral density, Gastrointestinal infla...	ORPHA:99226
Turner Syndrome	Osteopenia, Short neck, High, narrow palate, Reduced bone mineral density, Gastrointestinal infla...	ORPHA:881
Xp21 Deletion Syndrome	Joint laxity, Hypogonadotropic hypogonadism, Osteoporosis, Primary adrenal insufficiency, Reduced...	ORPHA:261476
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Hy...	ORPHA:1782
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Dysphagia, Increased susceptibility to fractures	OMIM:304700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Short stature, Tapered finger, Short neck, Irregular verteb...	OMIM:618395
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Arachnodactyly, Recurre...	ORPHA:394
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Short stature, Decreased response to growth hormone stimulation test, Central diabetes insipidus,...	ORPHA:293987
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea...	ORPHA:363400
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Metaphyseal widening, ...	ORPHA:73230
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Flexion contracture, Osteoporosis, Rickets, Submucous cleft...	ORPHA:2671
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Short stature, Decreased response to growth hormone stimulation test, Hypothyroidism, Patent duct...	ORPHA:444077
Sapho Syndrome	Malabsorption, Inflammation of the large intestine, Chronic diarrhea, Steatorrhea	ORPHA:793
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Generalized joint laxity, Abnormal...	ORPHA:536471
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Severe short stature, Wid...	OMIM:619598
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o...	OMIM:313400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Proportionate short stature, Increased circulating free fatty acid level, Diarrhea, Fasting hyper...	ORPHA:71212
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Adrenocortical adenoma	ORPHA:681
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Decreased fibular diameter, Short neck, Multiple prena...	OMIM:616897
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat...	ORPHA:457395
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta...	OMIM:300863
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal testis morphology	ORPHA:791
Lathosterolosis	Elevated hepatic transaminase, Toe syndactyly, Bilobate gallbladder, Lumbosacral meningocele, Int...	OMIM:607330
Spondyloepiphyseal Dysplasia, Kimberley Type	Proportionate short stature, Platyspondyly, Osteoarthritis, Micromelia	ORPHA:93283
Mucopolysaccharidosis Type 4	Bowing of the long bones, Short stature, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Spinal ...	ORPHA:582
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiti...	ORPHA:91347
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Patent ductus arteriosus, Growth delay, Gastroesophageal reflux, Lethargy, Abnorm...	OMIM:614857
Gm1-Gangliosidosis, Type Iii	Ataxia, Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy, Rickets, Short stature, Hepatosplenomegaly	OMIM:611590
Perlman Syndrome	Distal ileal atresia, Hypoglycemia, Large for gestational age, Cryptorchidism, Pancreatic islet-c...	OMIM:267000
Congenital Bile Acid Synthesis Defect Type 3	Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Cirrhosis, Fat malabsorption	ORPHA:79302
Pontocerebellar Hypoplasia, Type 2E	Short stature, Flexion contracture, Osteoporosis, Scoliosis	OMIM:615851
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Short metatarsal, Tibial bowing, Femoral bowing, Thoracic kypho...	OMIM:223800
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Abnormal finger morp...	ORPHA:2636
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga	OMIM:271620
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary t...	ORPHA:1414
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Short stature, Parathyroid hyperplasia, Rickets, Elevated circulating parath...	OMIM:612089
Cole-Carpenter Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, Kyphosis, Platyspon...	OMIM:616294
Frank-Ter Haar Syndrome	Osteopenia, Bowing of the long bones, Cortical irregularity, Anterior concavity of thoracic verte...	OMIM:249420
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, O...	OMIM:259770
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Ataxia, Microvesicular hepatic steatosi...	OMIM:124000
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperi...	ORPHA:79086
Dyskeratosis Congenita, Autosomal Dominant 3	Ataxia, Short stature, Avascular necrosis of the capital femoral epiphysis, Cryptorchidism, Osteo...	OMIM:613990
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Osteop...	ORPHA:99880
Immunodeficiency 12	Short stature, Esophageal stricture, Clubbing, Osteoporosis, Growth delay, Recurrent aphthous sto...	OMIM:615468
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Disc-like vertebral bodies, Dumbbell-shaped long bone, Micromelia, Sho...	OMIM:151210
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular narrowing, ...	OMIM:271510
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hypoglycemia, Growth delay, Vomiting, Hyperglycemia, Failure to thrive	ORPHA:3008
Adrenomyodystrophy	Short stature, Primary adrenal insufficiency, Reduced bone mineral density, Abnormal intestine mo...	ORPHA:977
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Clavicular sclerosis, Sclerotic scapulae, Increased intervert...	OMIM:224300
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly, Premature osteoarthritis, Cleft palate	OMIM:184840
Mucopolysaccharidosis, Type Vii	Short neck, Flexion contracture, Anterior beaking of lumbar vertebrae, Proximal tapering of metac...	OMIM:253220
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Osteop...	ORPHA:143
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P...	OMIM:131100
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Hypoglyc...	OMIM:613986
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Ataxia, Microvesicular hepati...	OMIM:203700
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat...	OMIM:608189
Wolf-Hirschhorn Syndrome	Sacral dimple, Arachnodactyly, Ataxia, Short hallux, Short thumb, Preaxial hand polydactyly, Abno...	ORPHA:280
Weill-Marchesani Syndrome 1	Thin bony cortex, Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffne...	OMIM:277600
Pseudodiastrophic Dysplasia	Rhizomelia, Phalangeal dislocation, Platyspondyly, Talipes equinovarus, Scoliosis	ORPHA:85174
Lysinuric Protein Intolerance	Hepatomegaly, Short stature, Recurrent fractures, Nausea, Splenomegaly, Diarrhea, Osteoporosis, V...	OMIM:222700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Villous atrophy, Short stature, Abnormality of the endocrine system, Diarrhea, Esopha...	ORPHA:391487
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr...	OMIM:271640
Fanconi Renotubular Syndrome 3	Short stature, Bowing of the legs, Rickets, Growth delay, Glycosuria	OMIM:615605
Odontochondrodysplasia	Bowing of the long bones, Short stature, Micromelia, Coxa valga, Patent ductus arteriosus, Joint ...	ORPHA:166272
Brachyolmia Type 2	Platyspondyly, Short stature	OMIM:613678
Late-Onset Familial Hypoaldosteronism	Postnatal growth retardation, Abnormal circulating corticosterone level, Vomiting, Elevated serum...	ORPHA:556037
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Patent ductus arteri...	ORPHA:2655
Dystonia 1, Torsion, Autosomal Dominant	Multiple joint contractures, Hyperlordosis, Inability to walk, Kyphosis, Scoliosis, Dysphagia, Ab...	OMIM:128100
Fanconi Renotubular Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parat...	OMIM:613388
Thyrotoxic Periodic Paralysis	Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi...	ORPHA:79102
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Menkes Disease	Gastrointestinal hemorrhage, Bowing of the long bones, Osteomyelitis, Hypoglycemia, Tarsal synost...	ORPHA:565
Cole Disease	Hyperglycemia	OMIM:615522
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Anhidrosis, Oral-pharyngeal dysphagia, Small hand, O...	OMIM:615273
Mulibrey Nanism	Hepatomegaly, Short stature, Growth delay, Intrauterine growth retardation, Microglossia, Thicken...	OMIM:253250
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui...	ORPHA:64744
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ...	OMIM:616723
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Kyphosis, Bifid femur, Abnormal form of the vertebral bodies, Increased susc...	ORPHA:2769
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Short neck, Postnatal growth ret...	OMIM:611717
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Bowing of the long bones, Short stature, Kyphoscoliosis, Flared metaphy...	OMIM:615349
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Thoracic kyphoscoliosis, Thoracic scoliosis, Distal joint laxity, Generalized joint l...	ORPHA:1900
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Short stature, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, En...	ORPHA:90796
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Waddling gait, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, Ovoid ver...	OMIM:608728
Dyskeratosis Congenita, Autosomal Recessive 1	Esophageal stricture, Hepatic fibrosis, Oral leukoplakia, Osteoporosis	OMIM:224230
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormality of the vertebral spinous processes, Ataxia, Abnormal tibia morphology, Ch...	ORPHA:909
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Osteoporosis, Cleft palate, Increased susceptibility to fractures,...	ORPHA:90354
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Osteopenia, Bowing of the long bones, Rhizomelia, Recurrent fractures, Short s...	OMIM:616229
Morquio Syndrome C	Platyspondyly, Severe short stature	OMIM:252300
Tenosynovial Giant Cell Tumor	Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness	ORPHA:66627
X-Linked Intellectual Disability, Snyder Type	Long toe, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Short stature, Kyphosis, Inability...	ORPHA:3063
Spondyloepimetaphyseal Dysplasia, Missouri Type	Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr...	OMIM:602111
X Small Rings	Joint laxity, Toe syndactyly, Tapered finger, Short neck, Osteoporosis, 2-3 toe syndactyly, Upper...	ORPHA:96201
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormality of the vertebral column, Osteopetrosis, Calvarial osteosc...	OMIM:607634
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolera...	ORPHA:96253
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
Aspartylglucosaminuria	Hepatomegaly, Abnormal morphology of ulna, Joint stiffness, Malabsorption, Splenomegaly, Arthriti...	ORPHA:93
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Increased susceptibility to fractures, Tip-toe gait, Gait disturbance, Dysphag...	ORPHA:216866
Early-Onset Familial Hypoaldosteronism	Postnatal growth retardation, Abnormal circulating corticosterone level, Vomiting, Elevated serum...	ORPHA:556030
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Kyphosis, Metaphyseal widening, Craniofacial osteosclerosis, In...	OMIM:618476
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decrease...	ORPHA:90695
Huntington Disease-Like 1	Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Abnormal posturing	ORPHA:157941
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Severe short stature, Thoracolumbar kyphoscoliosis...	OMIM:618853
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Short neck, Preaxial hand polydactyly, Kyphosis, Cryp...	ORPHA:261318
Dend Syndrome	Hyperglycemia, Vomiting	ORPHA:79134
Mandibuloacral Dysplasia	Postnatal growth retardation, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsul...	ORPHA:2457
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Maternal Uniparental Disomy Of Chromosome 4	Short stature, Diabetes insipidus, Postnatal growth retardation, Diarrhea, Decreased body weight,...	ORPHA:96180
Desbuquois Dysplasia 2	Joint laxity, Short metacarpal, Lumbar hyperlordosis, Severe short stature, Monkey wrench femoral...	OMIM:615777
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Stickler Syndrome Type 1	Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, Abnormal vertebral epiphysis...	ORPHA:90653
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short stature, Micromelia, Short neck, Wide distal femoral metaphysis, Postnatal growth retardati...	OMIM:613320
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Hepatomegaly, Decreased serum insulin-like growth factor 1, Ataxia, Short stature, Hy...	ORPHA:77293
Dyskeratosis Congenita, Autosomal Dominant 1	Ataxia, Osteoporosis, Hepatic necrosis, Cirrhosis, Oral leukoplakia	OMIM:127550
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade...	ORPHA:99889
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Recurrent fractures, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:601812
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Proportionate short stature, Precocious puberty, Short toe, Cone-shaped epiphyses of ...	OMIM:619269
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Postnatal growth...	OMIM:612394
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum	OMIM:184095
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis, Joint stiffness	ORPHA:1345
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Ataxia, Short stature, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphysea...	OMIM:300232
Thanatophoric Dysplasia Type 2	Short stature, Micromelia, Kyphosis, Patent ductus arteriosus, Limitation of joint mobility, Join...	ORPHA:93274
Feingold Syndrome	Short stature, Abnormality of the spleen, Esophageal atresia, Annular pancreas, Duodenal atresia	ORPHA:1305
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Cranioectodermal Dysplasia 1	High, narrow palate, Hepatic fibrosis, High palate, Joint laxity, Hepatomegaly, Rhizomelia, Malfo...	OMIM:218330
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Peptic ulcer, Splenomegaly, Diarrhea, Osteoporosis, Increased susceptibility to fra...	ORPHA:98849
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Thin bony cortex, Short stature, Proportionate short stat...	OMIM:608328
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Wide capital femoral epiphyses, Ovoid vertebral bodies, Short stature, Shor...	ORPHA:1830
Stickler Syndrome, Type I	Arachnodactyly, Joint stiffness, Kyphosis, Irregular femoral epiphysis, Osteoarthritis, Submucous...	OMIM:108300
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration	OMIM:221400
Cockayne Syndrome B	Hepatomegaly, Anhidrosis, Severe short stature, Ataxia, Postnatal growth retardation, Splenomegal...	OMIM:133540
Scorpion Envenomation	Acute pancreatitis, Ataxia, Elevated circulating aspartate aminotransferase concentration, Diarrh...	ORPHA:466677
Dent Disease	Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossif...	ORPHA:1652
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Lumbar hyperlordosis, Short stature, Large tarsal bones, Flexion contracture, Flared metaphysis, ...	OMIM:215150
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Bowel incontinence, Hyperlordosis, Inability to walk, Elevated circulating alanine ...	ORPHA:365
Occipital Horn Syndrome	Joint laxity, Short humerus, Coxa valga, Hiatus hernia, Capitate-hamate fusion, Kyphosis, Chronic...	OMIM:304150
Osteogenesis Imperfecta, Type Xv	Short stature, Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Sco...	OMIM:615220
Hutchinson-Gilford Progeria Syndrome	Growth delay, Osteolysis, Generalized osteoporosis	OMIM:176670
Osteogenesis Imperfecta, Type Ii	Recurrent fractures, Multiple prenatal fractures, Absent ossification of calvaria, Tibial bowing,...	OMIM:166210
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Reduced bone mineral densit...	ORPHA:848
Dyggve-Melchior-Clausen Disease	Short neck, Coxa vara, Rhizomelia, Hypoplasia of the odontoid process, Abnormality of the vertebr...	ORPHA:239
Primrose Syndrome	Bilateral cryptorchidism, Flexion contracture, Reduced bone mineral density, Knee flexion contrac...	OMIM:259050
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t...	OMIM:208540
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia, Short stature	OMIM:193100
Glass Syndrome	Broad-based gait, Arachnodactyly, Anterior tibial bowing, Short stature, Cleft palate, High palat...	OMIM:612313
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Abnormality of th...	ORPHA:508533
Smith-Mccort Dysplasia 2	Short metacarpal, Enlarged interphalangeal joints, Short stature, Broad femoral neck, Short neck,...	OMIM:615222
Dental Anomalies And Short Stature	Short stature, Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral in...	OMIM:601216
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Cystic angiom...	OMIM:608594
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Arachnodactyly, Ataxia, Akinesia, Inability to walk,...	ORPHA:86309
46,Xy Partial Gonadal Dysgenesis	Decreased serum testosterone concentration, Streak ovary, Hypergonadotropic hypogonadism, Elevate...	ORPHA:251510
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Sacral dimple, Toe syndactyly, Ataxia, Tapered finger, Inability to walk, Cryptorchidism, Delayed...	ORPHA:459070
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Abnormal sacroiliac joint mor...	ORPHA:1860
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Short stature, Decreased response to growth hormone stimulation test, Bowi...	ORPHA:1855
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Metaphyseal sclerosis...	OMIM:607944
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Primary hyperparathyroidism, Osteomalacia, Pancreatitis	OMIM:600740
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Short stature, Bowing of the legs	OMIM:146350
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital kyphoscoliosis, Arachnodactyly, Short stature, Kyphoscoliosis, Atlantoaxia...	ORPHA:536545
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A...	ORPHA:95494
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia, Short stature, Glycosuria	OMIM:134600
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Intestinal malrotation, Micromelia, Postaxial polydactyly, Ulnar bowing, Preaxial ...	OMIM:617866
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Growth delay, Rickets, Vomiting	OMIM:602722
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Atelosteogenesis, Type I	Short neck, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, Short metacarp...	OMIM:108720
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Gastrointestinal hemorrhage, Arachnodactyly, Kyphoscoliosis, Osteoporos...	OMIM:225400
17Q11 Microdeletion Syndrome	Osteopenia, Short stature, Bowing of the legs, Gastrointestinal stroma tumor, Kyphosis, Precociou...	ORPHA:97685
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures, Short stature, Glycosuria	OMIM:268315
Williams Syndrome	Osteopenia, Rectal prolapse, Abnormal form of the vertebral bodies, Dysmetria, Vertebral segmenta...	ORPHA:904
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Dec...	OMIM:269700
Thanatophoric Dysplasia, Type Ii	Micromelia, Flared metaphysis, Platyspondyly, Neonatal death, Lethal short-limbed short stature, ...	OMIM:187601
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Broad-based gait, Short stature, Abnormality of the endocrine system, I...	ORPHA:438213
Osteoglophonic Dysplasia	Osteopenia, Short neck, Short metatarsal, High palate, Short palm, Short phalanx of finger, Broad...	OMIM:166250
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan...	ORPHA:3464
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Thrombocytopenia 6	Myelofibrosis, Osteoporosis	OMIM:616937
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Short neck, Flared metaphysis, Femoral bowing, Platyspondyly, Dispropor...	OMIM:187600
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp...	ORPHA:731
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso...	ORPHA:210122
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Disproportionate short stature, Craniosyn...	ORPHA:89936
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypoglycemia, Small for gestational age, Microvesicular hepatic steatosis, Dysphagia, Anteriorly ...	OMIM:220111
Fibrochondrogenesis 1	Rhizomelia, Dumbbell-shaped long bone, Short neck, Wide anterior fontanel, Small hand, Fibular hy...	OMIM:228520
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Severe short stature, Abnormality of the epiphysis of the femoral head, Ky...	ORPHA:93316
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Ataxia, Craniosynostosis, Short neck, Joint stiffness, Cranial hyperost...	ORPHA:309282
Hall-Riggs Syndrome	Short stature, Joint stiffness, Platyspondyly, Scoliosis, Limb undergrowth, Abnormal metaphysis m...	ORPHA:2107
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Recurrent fractures, Avascular necrosis of the capita...	OMIM:619377
Williams-Beuren Syndrome	Osteopenia, Rectal prolapse, Flexion contracture, Glucose intolerance, Early onset of sexual matu...	OMIM:194050
Dyskeratosis Congenita, X-Linked	Ataxia, Short stature, Cryptorchidism, Esophageal stricture, Osteoporosis, Hyperhidrosis, Oral le...	OMIM:305000
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Post...	OMIM:263520
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Rhizomelia, Severe short stature, Bowel incontinence, Kyphosis, Wide anteri...	OMIM:616482
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Short stature, Increased intervertebral space, Diaphysea...	OMIM:619727
Osteogenesis Imperfecta, Type Iv	Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral...	OMIM:166220
Saul-Wilson Syndrome	Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Coxa valga, Postnatal growth...	OMIM:618150
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Platyspondyly, ...	OMIM:612813
Czech Dysplasia	Narrow femoral neck, Waddling gait, Short metacarpal, Flat capital femoral epiphysis, Short toe, ...	OMIM:609162
Igg4-Related Submandibular Gland Disease	Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Prostatitis, Enlarged la...	ORPHA:449432
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Sporadic Infantile Bilateral Striatal Necrosis	Titubation, Bradykinesia, Gait ataxia, Gait disturbance, Dysphagia, Abnormal posturing	ORPHA:225147
Autosomal Dominant Hypophosphatemic Rickets	Growth delay, Rickets, Osteomalacia, Bowing of the legs	ORPHA:89937
Sandifer Syndrome	Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esophagitis, Abnormal posturing, Episodic vo...	ORPHA:71272
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Abnorma...	ORPHA:2911
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Lumbar hyperlordosis, Bowing of the legs, ...	OMIM:100800
Cole-Carpenter Syndrome 1	Osteopenia, Short stature, Recurrent fractures, Coronal craniosynostosis, Reduced bone mineral de...	OMIM:112240
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Increased density of long bones, Short neck, Wide distal femoral metaphy...	OMIM:269150
Myhre Syndrome	Craniofacial hyperostosis, Severe short stature, Joint stiffness, Precocious puberty, Cryptorchid...	ORPHA:2588
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Reduced bone mineral density, ...	ORPHA:935
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Micromelia, Abnormal carpal morphology, Hypoplasia of the capital femor...	ORPHA:85166
Sillence Syndrome	Back pain, Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus,...	ORPHA:3168
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Short stature, Pos...	ORPHA:93325
Sponastrime Dysplasia	Metaphyseal widening, Osteopathia striata, Delayed epiphyseal ossification, Generalized joint lax...	ORPHA:93357
Lethal Kniest-Like Dysplasia	Short neck, Mesomelic/rhizomelic limb shortening, Wide anterior fontanel, Flared metaphysis, Clef...	ORPHA:2347
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe short stature, Kyphoscoliosis, Severe generalized osteoporosis, Cone-shap...	OMIM:210730
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Increased bone mineral density, Severe short stature, Short stature, Thickene...	OMIM:127000
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-onset short-trunk shor...	OMIM:113500
Hepatoerythropoietic Porphyria	Osteopenia, Splenomegaly, Osteoporosis, Osteolysis	ORPHA:95159
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl...	OMIM:601356
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Arachnodactyly, Limited elbow movement, Kyphosis, High, narrow ...	ORPHA:558
Aceruloplasminemia	Diabetes mellitus, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic ir...	ORPHA:48818
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyl...	OMIM:210710
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Protrudin...	ORPHA:50945
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Short stature, Metaphyseal chondrodysplasia, Metaphyseal cupping of metac...	ORPHA:163966
Otopalatodigital Syndrome, Type Ii	Elbow contracture, Short neck, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal,...	OMIM:304120
Lowe Oculocerebrorenal Syndrome	Short stature, Camptodactyly of finger, Osteomalacia, Postnatal growth retardation, Kyphosis, Cry...	OMIM:309000
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent...	ORPHA:79318
Faciocardiomelic Syndrome	Osteopenia, Cuboid-shaped vertebral bodies, Polydactyly, Thin bony cortex	OMIM:612731
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Overlapping toe, Intestinal malrotation, Hiatus hernia, Precocious puberty, Cryptorchidism, Encop...	OMIM:616682
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Anal fissure, Flexion contracture, Osteoporosis, Dysphagia, G...	ORPHA:79408
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Hypoplastic vertebral bodies, Macroglossia, Platyspondyly, Beaking of vertebr...	ORPHA:79255
Lowry-Wood Syndrome	Short stature, Joint stiffness, Coxa vara, Platyspondyly, Dislocated radial head, Brachydactyly	ORPHA:1824
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi...	ORPHA:284984
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Gastroesophageal reflux, Short stature, Osteomalacia, Cryptorchidism, Joint ...	ORPHA:534
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Marshall Syndrome	Radial bowing, Short stature, Coxa valga, Ulnar bowing, Irregular femoral epiphysis, Wide tufts o...	OMIM:154780
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Arachnodactyly, Postaxial polydactyly, Craniosynostosis, Eosinophilic i...	OMIM:610168
Atelis Syndrome 2	Sacral dimple, Kyphosis, Patent ductus arteriosus, Elevated circulating thyroid-stimulating hormo...	OMIM:620185
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Short neck, Triangular shaped distal phalanges of the hand, Abnor...	OMIM:271665
Myhre Syndrome	Short neck, Vertebral fusion, Ataxia, Short stature, Cryptorchidism, Short toe, Patent ductus art...	OMIM:139210
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Ankle flexion contracture, Reduced bone mineral density, Knee flexion contractur...	OMIM:620232
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Ataxia, Short stature, Short neck, Flared metaphysis, Advanced ossification of carp...	OMIM:610442
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow...	OMIM:211350
Congenital Erythropoietic Porphyria	Osteopenia, Splenomegaly, Osteoporosis, Osteolysis	ORPHA:79277
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Rickets, Growth delay, Vomiting, Constipation, Glycosuria	ORPHA:411629
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Esophageal stricture, Osteoporosis, Renal tubular epithelial necro...	ORPHA:79404
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Hypoglycemia, Supernumerary nipple, Cryptorchidism, Splenomegaly, High, narrow pala...	ORPHA:373
Fibrochondrogenesis 2	Metaphyseal cupping, Metaphyseal widening, Platyspondyly	OMIM:614524
Mucopolysaccharidosis, Type X	Hyperlordosis, Disproportionate short-trunk short stature, Genu valgum, Platyspondyly, Posterior ...	OMIM:619698
Familial Hypocalciuric Hypercalcemia	Peptic ulcer, Osteomalacia, Pancreatitis	ORPHA:405
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Femoral bowing, Increased suscept...	OMIM:166200
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid vertebral bodies...	ORPHA:85167
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Diarrhea, Chronic ...	OMIM:102700
Stickler Syndrome	Arachnodactyly, Short stature, Kyphosis, Osteoarthritis, Spinal canal stenosis, Abnormal form of ...	ORPHA:828
Aspartylglucosaminuria	Joint laxity, Hepatomegaly, Short stature, Kyphosis, Diarrhea, Macroglossia, Platyspondyly, Spond...	OMIM:208400
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Diarrhea, Hyperinsulinemia, Vomiting	ORPHA:230
Fontaine Progeroid Syndrome	Syndactyly, Absent nipple, Short stature, Craniosynostosis, Protruding tongue, High, narrow palat...	OMIM:612289
Vici Syndrome	Postnatal growth retardation, Cleft palate, Abnormal thymus morphology, High palate, Dysphagia, A...	OMIM:242840
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Cone-shaped metacarpal epiphyses, Rhizomelia, Short neck, Irregular tarsal bone...	OMIM:250220
Singleton-Merten Syndrome 1	Osteopenia, Waddling gait, Hypoplastic distal radial epiphyses, Short stature, Coxa valga, Osteop...	OMIM:182250
Distal Renal Tubular Acidosis	Short stature, Osteomalacia, Diarrhea, Rickets, Increased susceptibility to fractures, Reduced bo...	ORPHA:18
Abetalipoproteinemia	Fat malabsorption	OMIM:200100
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Severe short stature, Kyphoscoliosis,...	OMIM:184253
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn...	ORPHA:273
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bo...	ORPHA:488434
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Osteomalacia, Increased susceptibility to fractures, Growth delay, Glycosuria, Hypo...	ORPHA:3337
Opsismodysplasia	Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Short foot, Hypopla...	OMIM:258480
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Osteomyelitis, Duodenal ulcer, Osteomalacia, Gastritis, Splenomegaly, Diarrhea, ...	OMIM:619381
Generalized Arterial Calcification Of Infancy	Osteomalacia, Adrenal calcification, Hepatic calcification, Abnormal calcification of the carpal ...	ORPHA:51608
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met...	ORPHA:99646
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Alström Syndrome	Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t...	ORPHA:64
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Aganglionic megacolon, Camptodactyly of finger, Kyphosis, Cryptorchidism, H...	ORPHA:2273
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Exaggerated median tongue furrow, Intestinal malrotation, Supernumerary nipple, Spl...	OMIM:312870
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Metaphyseal chondrodysplasia, Disproportionate short stature, Rhizomelic arm sh...	ORPHA:93317
Unilateral Polymicrogyria	Abnormal posturing, Pseudobulbar paralysis	ORPHA:268943

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 Eif2ak3

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 Eif2ak3.

No publications found that use IMPC mice or data for Eif2ak3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Eif2ak3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Eif2ak3^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Eif2ak3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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