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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Growth delay, Exocrine panc... ORPHA:1667
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Platyspondyly, Type I diabetes mellitus, Hypoplasia of the odontoid process, Shortening of all mi... OMIM:226980

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

Disease Similarity of
phenotypes
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
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Small f... OMIM:615935
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... ORPHA:552
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Feeding difficulties in infancy, Short stature, Steatorrhea OMIM:618752
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Abdominal pain, Maturity-onset diabetes of the ... OMIM:609812
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... OMIM:606762
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Failure to thrive, Exocrine ... OMIM:260370
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Abdominal... OMIM:167800
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Chronic diarrhea, Fat malabsorption ORPHA:309108
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Failure to thrive, Malnutrition, Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, J... OMIM:612714
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
Growth delay, Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat ma... OMIM:613291
Transient Neonatal Diabetes Mellitus
Macroglossia, Failure to thrive, Maturity-onset diabetes of the young, Hyperglycemia, Intrauterin... ORPHA:99886
Wolman Disease
Hepatic failure, Malnutrition, Adrenal calcification, Adrenal insufficiency, Nausea and vomiting,... ORPHA:75233
Secondary Short Bowel Syndrome
Vomiting, Diarrhea, Central hypothyroidism, Failure to thrive, Volvulus, Cholestasis, Malnutritio... ORPHA:95427
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Mitchell-Riley Syndrome
Diarrhea, Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, C... OMIM:615710
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Abnormality of exocrine pancreas physiology OMIM:211400
Familial Pancreatic Carcinoma
Peritoneal abscess, Intestinal pseudo-obstruction, Colon cancer, Pancreatic adenocarcinoma, Exocr... ORPHA:1333
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Hepatic failure, Vomiting, Diarrhea, Failure to thrive, Protein-losing enteropa... OMIM:602579
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Abnormal intesti... OMIM:615952
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Abnormality of exocrine pancreas physiology OMIM:613021
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growth retardation, ... OMIM:601410
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Foot joint contracture, Abnormal hallux morphology, Exocrine pancr... ORPHA:456312
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Chylomicron Retention Disease
Diarrhea, Vomiting, Failure to thrive, Malnutrition, Hypocholesterolemia, Accumulation of lipid d... OMIM:246700
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Diarrhea, Hepatic failure, Failure to thrive, Hyp... OMIM:607765
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Postnatal growth retardat... OMIM:616263
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Postnatal growth retardation, Hyperlipidemia, Increas... OMIM:232700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... ORPHA:293964
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Abno... ORPHA:1802
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Vomiting, Decreased intestinal transit time, Failure to thr... OMIM:615237
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertriglyceridemia, Hepatomegaly, Acute pan... OMIM:608600
Mahvash Disease
Type II diabetes mellitus, Recurrent pancreatitis, Abdominal pain, Pancreatic alpha-cell hyperpla... OMIM:619290
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Diarrhea, Adrenal calcification, Acute hepatic failure, Hepatosplenome... OMIM:278000
Shwachman-Diamond Syndrome 2
Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatome... OMIM:617941
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II dia... OMIM:269200
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Joint hypermobility, Short neck, Delayed puberty, Hyperinsulinemic hypoglycemi... OMIM:616033
Johanson-Blizzard Syndrome
Failure to thrive, Anteriorly placed anus, Exocrine pancreatic insufficiency, Intrauterine growth... ORPHA:2315
Congenital Tufting Enteropathy
Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intest... ORPHA:92050
Osteomesopyknosis
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... ORPHA:2777
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Hypogonadism, Congenital hepatic fibrosi... ORPHA:79230
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Failure to thrive, Splenomegaly, Hepatomegal... OMIM:235555
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Malabsorption, Cryptorchidism, Aganglionic megacolon, Hypohidr... ORPHA:452
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism, Hyperlordosis, Short stature, Osteoporosis, Scoliosis ORPHA:408
Chylomicron Retention Disease
Diarrhea, Vomiting, Failure to thrive, Hypocholesterolemia, Hepatic steatosis, Abdominal distenti... ORPHA:71
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Somatostatinoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... ORPHA:97283
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Osteopenia, Portal fibrosis, Elevated circulating hepatic transaminase concentr... ORPHA:369
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Growth delay, Exocrine panc... ORPHA:1667
Proprotein Convertase 1/3 Deficiency
Diarrhea, Elevated circulating proinsulin concentration, Obesity, Malabsorption, Villous atrophy,... OMIM:600955
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Failure to thrive, Cholestasis, Postnatal growth retardati... ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Diarrhea, Hepatic failure, Hep... OMIM:613812
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,... ORPHA:2204
Congenital Disorder Of Glycosylation, Type Iik
Growth delay, Elevated circulating aspartate aminotransferase concentration, Joint hypermobility,... OMIM:614727
Rauch-Steindl Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Postnatal growth retardation, Intrauterine ... OMIM:619695
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ... ORPHA:276575
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption, Failure to thrive OMIM:607748
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ... ORPHA:276580
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Postnatal growt... ORPHA:453533
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Severe postnatal growth retardation, Hyp... OMIM:262700
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Vomiting, Hepatic failure, Failure to thrive, Exocrine pancreatic insuf... OMIM:557000
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Gout, Osteoporosis, Impaired glucose tolerance OMIM:610947
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Finger joint contracture, Intrauterine growth retardation, Dysmetria, Hypogonadotro... ORPHA:48431
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Vomiting, Failure to thrive, Polysplenia, Hypoglycem... OMIM:619418
Perrault Syndrome 1
Gait ataxia, Talipes equinovarus, Short stature, Ataxia, Increased circulating gonadotropin level... OMIM:233400
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... ORPHA:564003
Glucagonoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... ORPHA:97280
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Large for ge... ORPHA:276556
Metatropic Dysplasia
Severe short stature, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hyp... ORPHA:2635
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Vomiting, Diarrhea, Hypoglycemia, Hepatic steatosis,... OMIM:605911
Shwachman-Diamond Syndrome 1
Elevated circulating hepatic transaminase concentration, Proximal femoral epiphysiolysis, Exocrin... OMIM:260400
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency, Anal atresia OMIM:260450
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Weight loss, Abdominal distention, S... ORPHA:309031
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Abs... OMIM:618500
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... OMIM:615954
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Copper accumulation in liver, Prolonged neonatal jaundice, Chronic diarrhea,... OMIM:619481
Cystic Fibrosis
Diarrhea, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatosplenome... OMIM:219700
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Delayed puberty, S... ORPHA:2410
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Eosinophilic Gastroenteritis
Hematochezia, Protein-losing enteropathy, Vomiting, Diarrhea, Malabsorption, Weight loss, Abnorma... ORPHA:2070
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Vomiting, Diarrhea, Failure to thrive, Celiac disease, Postnatal growth... OMIM:212750
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia, Fat malabsorption OMIM:614338
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Platyspondyly, Type I diabetes mellitus, Hypoplasia of the odontoid process, Shortening of all mi... OMIM:226980
Winchester Syndrome
Carpal osteolysis, Osteolysis involving tarsal bones, Generalized osteoporosis, Broad metacarpals... OMIM:277950
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Glycosuria, Failure to thrive, Exocrine pancreatic insufficiency, Glucose intolerance, Nausea and... OMIM:616539
Deeah Syndrome
Narrow palate, Decreased response to growth hormone stimulation test, Panhypopituitarism, Exocrin... OMIM:619004
Shwachman-Diamond Syndrome
Osteopenia, Metaphyseal irregularity, Elevated circulating hepatic transaminase concentration, Gr... ORPHA:811
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Cryptorchidism, Joint hypermo... OMIM:617052
Classic Galactosemia
Hepatic failure, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Hyp... ORPHA:79239
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Hypocholesterolemia, Failure to thrive, Steatorrhea OMIM:266510
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia, Hypogonadotropic hypogonadism OMIM:615269
Chondroectodermal Dysplasia With Night Blindness
Platyspondyly, Osteopenia, Fractures of the long bones, Difficulty walking, Wide humerus, Gait di... ORPHA:319195
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal cortical bone morphology, Hyperhidrosis, Hyperlordosis, Reduced bon... ORPHA:970
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch... ORPHA:79301
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly, Metaphyseal dysplasia, Short stature, Waddling gait, Reduced bone mineral density,... OMIM:617974
Pearson Syndrome
Postnatal growth retardation, Hepatic steatosis, Hepatomegaly, Hypoparathyroidism, Hypoplastic sp... ORPHA:699
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis OMIM:608805
Sialidosis Type 2
Splenomegaly, Ataxia, Hepatomegaly, Osteoporosis, Flexion contracture, Short stature, Kyphosis ORPHA:87876
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hyperglycemia, Joint stiffness, Portal hypertension, ... ORPHA:465508
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... ORPHA:1879
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Osteoporosis, Macrovesicular hepatic steatosis, Scoliosis, Kyphosis OMIM:618234
Ck Syndrome
Abnormal cortical bone morphology, Joint hypermobility, Abnormal digit morphology, Hyperlordosis,... OMIM:300831
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Y-s... OMIM:175700
Infantile Systemic Hyalinosis
Severe short stature, Failure to thrive, Aplasia/Hypoplasia of the thymus, Malabsorption, Polycys... ORPHA:2176
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u... ORPHA:3416
Flynn-Aird Syndrome
Joint stiffness, Increased bone density with cystic changes, Kyphoscoliosis, Ataxia, Osteoporosis... OMIM:136300
Pyle Disease
Platyspondyly, Genu valgum, Limited elbow extension, Reduced bone mineral density, Thin bony cort... OMIM:265900
Proteus Syndrome
Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Kyphoscoliosis, Thin bony cortex, Cal... OMIM:176920
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Trichohepatoneurodevelopmental Syndrome
Overlapping toe, Fibular bowing, Talipes equinovarus, Bilateral coxa valga, Hepatomegaly, High pa... OMIM:618268
Sclerosteosis
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... ORPHA:3152
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Osteoporosis, Short stature, Kyphosis ORPHA:2786
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Finger clinodactyly, Cryptorchidism, Bilateral talipes equinovarus, Osteoporosis, Coxa valga ORPHA:2958
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Intrauterine growth retardation, Diabetes mellitus, Smal... OMIM:606176
Prieto Syndrome
Clinodactyly, Radial deviation of finger, Cryptorchidism, Talipes equinovarus, Osteoporosis, Coxa... OMIM:309610
Pseudopseudohypoparathyroidism
Pseudohypoparathyroidism, Short neck, Brachydactyly, Short stature, Osteoporosis, Short metatarsa... OMIM:612463
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Osteopenia, Hepatic failure, Rickets, Glycosuria, Growth delay, Abnor... ORPHA:2088
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Flattened proxima... OMIM:271530
Extensor Tendons Of Finger Anomalies
Osteoporosis, Limitation of joint mobility, Camptodactyly of finger ORPHA:3294
Lysosomal Acid Lipase Deficiency
Diarrhea, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Nausea and vomit... ORPHA:275761
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Vomiting, Diarrhea, Glycosuria, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglyc... ORPHA:263455
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Pancreatic hypoplasia,... ORPHA:2255
Cystic Fibrosis
Gastroesophageal reflux, Decreased body mass index, Failure to thrive, Exocrine pancreatic insuff... ORPHA:586
Premature Ovarian Failure 2B
Osteoporosis, Delayed puberty OMIM:300604
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Osteomalacia, Difficulty walking, Abnormal tibia morphology... ORPHA:249
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Flexion contracture OMIM:618856
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Failure to thrive, Cholestasis, Ex... OMIM:300972
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Kyphosis, Increased circulating cortisol level, Pigmented micronodular adrenocortical... OMIM:610475
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Osteoporosis OMIM:233300
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, ... ORPHA:2089
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypopla... ORPHA:93111
Forsythe-Wakeling Syndrome
Short stature, Osteoporosis, Growth delay OMIM:613606
Weismann-Netter Syndrome
Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Ab... ORPHA:3344
Orofaciodigital Syndrome Type 1
Finger syndactyly, Ataxia, Foot polydactyly, High palate, Tarsal synostosis, Short toe, Preaxial ... ORPHA:2750
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, S... ORPHA:53697
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia, Delayed puberty OMIM:615271
Osteogenesis Imperfecta, Type Xxii
Multiple small vertebral fractures, Decreased circulating osteocalcin level, Intrauterine growth ... OMIM:619795
Warburg Micro Syndrome 1
Overlapping toe, Cryptorchidism, Kyphoscoliosis, Joint hypermobility, Short stature, Osteoporosis OMIM:600118
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Genu valgum, Joint hypermobility, Po... OMIM:253000
Hall-Riggs Syndrome
Platyspondyly, Intrauterine growth retardation, Brachydactyly, Metaphyseal dysplasia, Osteoporosi... OMIM:234250
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... OMIM:271630
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Glycosuria, Matur... OMIM:137920
Propionic Acidemia
Vomiting, Hypoglycemia, Lethargy, Constipation, Pancreatitis, Hepatomegaly, Osteoporosis, Short s... OMIM:606054
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Osteopenia, Female hypogonadism, Osteoporosis ORPHA:397685
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Hip contracture, Bowing of the long bones, Talipes equinovarus, Sh... OMIM:255800
Mu-Heavy Chain Disease
Hepatomegaly, Osteoporosis, Splenomegaly, Osteolysis ORPHA:100024
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Short distal phalanx of finger, Brachydactyly, Joint hypermobility ORPHA:2787
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Severe intrauterine growth... OMIM:609069
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Kyphosis, Abnormal diaphysis morphology, Camptodactyly of finger, Hypogonadism, C... ORPHA:3409
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Limitation of joint mobility, Synostosis of carpal bones, Micromelia, Upper limb u... ORPHA:93351
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Vomiting, Malnutrition, Pancreatic adenocarcino... ORPHA:103918
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Adva... OMIM:251450
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Elbow flexion contracture, Cryptorchidism, Kne... OMIM:214150
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Diarrhea, Rickets, Vomiting, Ataxia, Hepatomegaly, Osteoporosis OMIM:560000
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Increased... OMIM:259450
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe... ORPHA:93284
Progressive Pseudorheumatoid Dysplasia
Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Difficulty walking, Joint ... OMIM:208230
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71526
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Short distal phalanx of finger, Growth delay, Insulin-resistant diabetes mellitus, El... OMIM:248370
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Type I diabetes mellitus, Carpal osteolysis, Abnormal form of the vertebral bodies, A... ORPHA:371428
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Osteopenia, Genu valgum, Broad femoral head, Severe platyspondyly, Short stat... OMIM:620639
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Small hand, Elevated circulating hepatic transaminase concent... OMIM:620005
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Osteoporosis, Intermittent diarrhea, Gastroesophageal reflux, Ataxia OMIM:619971
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Joint stiffness, Splenomegaly, Protruding tongue, Hypoplas... OMIM:230600
Progressive Pseudorheumatoid Arthropathy Of Childhood
Joint contracture of the hand, Infancy onset short-trunk short stature, Limitation of joint mobil... ORPHA:1159
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial torsion, Kyphoscol... OMIM:616583
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Diarrhea, Vomiting, Failure to thrive, Hypocholesterolemia, Villous atrophy, He... OMIM:212065
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Limitation of joint mobility, Hepatic steatosis, Biconcave vertebral bodies, Kyphoscoliosis, Arac... OMIM:236200
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Breast hyp... ORPHA:785
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Low back pain, Neoplasm of the li... ORPHA:2126
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... ORPHA:79106
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Short toe, Short finger, Hypogonadism, Pseudohypo... OMIM:103580
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogonadotropic hypo... OMIM:610628
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Failure to thrive, Glycosuri... ORPHA:99885
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Duodenal ulcer, Cachexia, Steatorrhea, Chronic diarrhea ORPHA:3217
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Broad-based gait, Decreased serum estradiol, Gastroesophageal reflux, Elevated circul... ORPHA:2959
Rothmund-Thomson Syndrome, Type 1
Short stature, Osteoporosis, Male hypogonadism, Hypothyroidism OMIM:618625
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, ... OMIM:615830
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short 5th finger, Hypermobility of interphalangeal joints, Broad thumb, Broad hallux, Thoracic he... ORPHA:508498
Hyaline Fibromatosis Syndrome
Osteopenia, Diarrhea, Progressive flexion contractures, Osteoporosis, Flexion contracture, Osteol... OMIM:228600
Cystinosis, Nephropathic
Male hypogonadism, Rickets, Glycosuria, Growth delay, Exocrine pancreatic insufficiency, Hypophos... OMIM:219800
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Abdominal distention, Hepatitis, Celiac dis... ORPHA:186
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Postnatal growth retardation, Decreased body weight, Feeding difficulties in infanc... ORPHA:231140
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Genu valgum, Limited elbow movement, Short neck, Disproportionate ... ORPHA:94068
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Unsteady gait, Type II diabetes mellitus OMIM:520000
Metaphyseal Chondrodysplasia, Spahr Type
Disproportionate short stature, Reduced bone mineral density, Abnormal metaphysis morphology, Bow... ORPHA:2501
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomegaly, Hypog... OMIM:235200
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Rickets... OMIM:600785
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Hip osteoarthritis, Severe short stature, Hump-shaped mound of bone in central and... ORPHA:99642
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteopenia, Hip osteoarthritis, Severe short stature, Osteoarthritis of the elbow,... ORPHA:2619
Osteoporosis
Osteoporosis OMIM:166710
Methylcobalamin Deficiency Type Cble
Vomiting, Clinodactyly, Postnatal growth retardation, Abnormality of the liver, Intrauterine grow... ORPHA:2169
Greenberg Dysplasia
Platyspondyly, Rhizomelia, Abnormal pelvis bone ossification, Abnormal form of the vertebral bodi... ORPHA:1426
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity, Intrauterine growth retardation, Hypergonadotropic hypogonadism, Feeding ... OMIM:619737
Tenorio Syndrome
Osteopenia, Macroglossia, Gastroesophageal reflux, Hypoglycemia, Recurrent aphthous stomatitis, J... OMIM:616260
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Vertebral wedging, Hypoplasia of the capital femoral epiphysis, Monkey wrench femo... OMIM:617719
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies,... ORPHA:93160
Beta-Thalassemia Intermedia
Osteopenia, Cholelithiasis, Decreased liver function, Hypogonadism, Hepatosplenomegaly, Abnormali... ORPHA:231222
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Hypoplasia of the odontoid process, Bilateral talipes equinovarus, Hypoplasia of t... OMIM:253010
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Broad femoral neck, Lumbar hyperlordosis, Thoracic kyphosis, Genu valgum, Interver... OMIM:609223
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... OMIM:616329
Bile Acid Synthesis Defect, Congenital, 6
Steatorrhea OMIM:617308
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Severe short stature, Disproportionate short-limb short stature, Hypoplasia of the... OMIM:609052
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Abnormal lower limb bone morphology, Increased susceptibility to fractures, Joint hyp... ORPHA:2788
Temple Syndrome
Precocious puberty, Bifid uvula, Recurrent hypoglycemia, Decreased response to growth hormone sti... ORPHA:254516
Multiple Endocrine Neoplasia Type 4
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... ORPHA:276152
Odontochondrodysplasia 1
Platyspondyly, Mesomelia, Metaphyseal cupping, Biconvex vertebral bodies, Micromelia, Cone-shaped... OMIM:184260
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrh... OMIM:601847
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... ORPHA:166277
Mandibuloacral Dysplasia With Type B Lipodystrophy
Growth delay, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intol... OMIM:608612
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitari... ORPHA:95619
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Clinodactyly, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Intra... ORPHA:73272
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Increased circulating cortisol level, Decreased circulating ACTH concentration, Macro... OMIM:219080
Osteogenesis Imperfecta, Type Xii
Hypermobility of interphalangeal joints, Bowing of the legs, Bowing of the arm, Bowing of the lon... OMIM:613849
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618857
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Elevated circulating par... OMIM:264700
Niemann-Pick Disease, Type A
Vomiting, Inability to walk, Elevated circulating aspartate aminotransferase concentration, Splen... OMIM:257200
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Elevated circulating par... OMIM:277440
Stüve-Wiedemann Syndrome
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Flexion... ORPHA:3206
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Osteopenia, Spinal rigidity, Elevated circulating hepatic transaminase concen... OMIM:613327
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Osteopenia, Decreased testicular size, Genu valgum, Cryptorchidism, Osteop... OMIM:614880
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Re... ORPHA:79240
Necrotizing Enterocolitis
Vomiting, Diarrhea, Small for gestational age, Hypoactive bowel sounds, Hyperglycemia, Abnormal g... ORPHA:391673
Bruck Syndrome
Platyspondyly, Kyphosis, Joint stiffness, Bowing of the long bones, Talipes equinovarus, Short st... ORPHA:2771
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... ORPHA:79084
Pachydermoperiostosis
Gastrointestinal hemorrhage, Peptic ulcer, Limitation of joint mobility, Small hand, Clubbing of ... ORPHA:2796
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Elevated circulating hepatic transaminase concentration, Toe syndactyly, Hypoglyce... OMIM:618958
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal form of the vertebral bodies, Abnormal cortical bone morph... ORPHA:1486
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Osteoporosis, Short stature ORPHA:71267
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Severe short stature, Short finger, Sclerosis of skull base, Knee flexion contract... OMIM:313420
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Growth delay, Hypoglycemia, Gout, Pancre... OMIM:232200
19P13.3 Microduplication Syndrome
Precocious puberty, Gastroesophageal reflux, Clinodactyly, Unilateral cryptorchidism, Intrauterin... ORPHA:447980
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Elevated circulating par... ORPHA:289157
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Hepatos... ORPHA:93352
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Diarrhea, Vomiting, Hypoglycemia, Elevated circulating hepatic... ORPHA:264580
Gaucher Disease Type 1
Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Osteopenia, Cholelithiasis, Splenic r... ORPHA:77259
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,... ORPHA:73
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Abnorma... OMIM:614886
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Anterior hypopituitarism, Breast hypoplasia, Absence of seco... ORPHA:2235
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Short femur, Absent or minimally ossified vertebral bodies, Talipes eq... ORPHA:1190
Metatropic Dysplasia
Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Disproportionate short-trunk s... OMIM:156530
Grant Syndrome
Abnormal cortical bone morphology, Joint hypermobility, Bowing of the long bones, Decreased skull... ORPHA:2097
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ... OMIM:604864
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti... ORPHA:93346
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Osteopenia, Premature adrenarche, Precocious puberty, Xerostomia, Central ... ORPHA:398079
Glycogen Storage Disease Ib
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:232220
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal vertebral morphology, Disproportionate short-trunk short stature, Bilater... ORPHA:163665
Osteogenesis Imperfecta, Type V
Platyspondyly, Osteopenia, Vertebral wedging, Anterior radial head dislocation, Biconcave vertebr... OMIM:610967
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Short Stature, Dauber-Argente Type
Osteopenia, Fasting hyperinsulinemia, Decreased fibular diameter, Postnatal growth retardation, A... OMIM:619489
Geroderma Osteodysplastica
Platyspondyly, Severe short stature, Growth delay, Abnormal form of the vertebral bodies, Biconca... ORPHA:2078
Rhyns Syndrome
Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Short stature, ... OMIM:602152
Abetalipoproteinemia
Hepatic fibrosis, Vomiting, Failure to thrive, Hypocholesterolemia, Hepatic steatosis, Hypothyroi... ORPHA:14
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Glucose intolerance, Biconcave vertebral bod... OMIM:219090
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Flared metaphysis, Short 5th metacarpal, Short... OMIM:156510
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Narrow vertebral interpedicular distance, Short neck, Hepatomega... OMIM:602557
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Intrauterine growth retardation,... OMIM:601346
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Vomiting, Failure to thrive, Hypoglycemia, Acute hepatic failure, Hyperglycemia, Growth delay OMIM:615453
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia OMIM:604484
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial bowing, Difficulty wa... ORPHA:93314
Beckwith-Wiedemann Syndrome
Abnormal pancreas morphology, Hypoglycemia, Exocrine pancreatic insufficiency, Obesity, Large for... ORPHA:116
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi... ORPHA:98754
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis wi... OMIM:211600
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... ORPHA:174
Ruijs-Aalfs Syndrome
Clinodactyly, Hypogonadism, Elbow flexion contracture, Short stature, Osteoporosis, Thoracic kyph... OMIM:616200
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Brachydactyly, Short stature, Short femoral neck, Kyphosis, Delayed... OMIM:618392
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Osteopenia, Severe short stature, Femoral bowing, Osteoporosis, Scoliosis, Recurre... OMIM:126550
Liver Disease, Severe Congenital
Diarrhea, Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Abdominal disten... OMIM:619991
Glycogen Storage Disease Ixc
Hypoglycemia, Postnatal growth retardation, Splenomegaly, Increased hepatic glycogen content, Cir... OMIM:613027
Short Syndrome
Insulin resistance, Clinodactyly, Insulin-resistant diabetes mellitus, Radial deviation of finger... OMIM:269880
Growth Hormone Deficiency, Isolated Partial
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Small pituit... OMIM:615925
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi... ORPHA:98793
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Scoliosis, Insulin-resistant diabetes me... OMIM:203800
Magel2-Related Prader-Willi-Like Syndrome
Small hand, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidis... ORPHA:398069
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... OMIM:259600
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Corti... ORPHA:1310
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi... ORPHA:177904
Morgagni-Stewart-Morel Syndrome
Abnormality of the thyroid gland, Hypothyroidism, Osteoarthritis, Osteoporosis, Abnormality of th... ORPHA:77296
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi... ORPHA:177901
Prader-Willi Syndrome
Premature adrenarche, Small hand, Xerostomia, Central adrenal insufficiency, Cryptorchidism, Shor... ORPHA:739
Dominant Beta-Thalassemia
Hepatic fibrosis, Diarrhea, Growth delay, Hypopituitarism, Hepatosplenomegaly, Hypersplenism, Adr... ORPHA:231226
Autosomal Recessive Primary Microcephaly
Short stature, Abnormal cortical bone morphology, Growth delay ORPHA:2512
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Platyspondyly, Osteopenia, Joint contracture of the hand, Bifid uvula, Broad femoral neck, Flared... OMIM:612350
Cantu Syndrome
Platyspondyly, Erlenmeyer flask deformity of the femurs, Broad hallux, Cuboid-shaped vertebral bo... OMIM:239850
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Increased bone mineral density, Wide distal femoral metaphysis, Femoral bowing, Jo... OMIM:614856
Spondylo-Ocular Syndrome
Platyspondyly, Joint hypermobility, Short neck, Disproportionate short-trunk short stature, Short... ORPHA:85194
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpa... OMIM:619638
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Intrauterine growth retardation, Reduced bone mineral dens... ORPHA:2370
Acquired Aneurysmal Subarachnoid Hemorrhage
Vomiting, Hypopituitarism, Hyperglycemia, Hypothyroidism, Hypercholesterolemia, Nausea ORPHA:90065
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Rickets, Glycosuria, Osteomalacia, Elevated... OMIM:227810
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Hypocholesterolemia, Hypertriglyceridemia OMIM:615558
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Pseudobulbar paralysis, Localized osteoporosis, Kyphoscoliosis, Spastic ataxia, Gait disturbance,... ORPHA:199354
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Intellectual Developmental Disorder, X-Linked, Syndromic 35
2-3 toe cutaneous syndactyly, Gastroesophageal reflux, Central hypothyroidism, Contracture of the... OMIM:300998
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... ORPHA:769
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Rhizomelia, Short femoral neck, Proximal femoral metaphyseal irregularity, Splenom... OMIM:602271
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Severe short stature, Osteoporosis OMIM:204730
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... ORPHA:166011
Alagille Syndrome 1
Hepatic failure, Failure to thrive, Cholestasis, Exocrine pancreatic insufficiency, Hypertriglyce... OMIM:118450
Mycetoma
Abnormal form of the vertebral bodies, Painless fractures due to injury, Abnormal forearm bone mo... ORPHA:2583
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Metaphyseal irregularity, Rickets, Growth delay, Difficulty walk... OMIM:241530
Functioning Gonadotropic Adenoma
Osteopenia, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation... ORPHA:91348
Glycerol Kinase Deficiency
Vomiting, Hypoglycemia, Pathologic fracture, Adrenal insufficiency, Adrenocortical hypoplasia, Ch... OMIM:307030
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
High, narrow palate, Bifid uvula, Broad-based gait, Long hallux, Cryptorchidism, Kyphoscoliosis, ... OMIM:309583
Cranioectodermal Dysplasia
Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Cli... ORPHA:1515
Shashi-Pena Syndrome
Hypoglycemia, Intrauterine growth retardation, Cervical C2/C3 vertebral fusion, Patent ductus art... OMIM:617190
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Clinodactyly, Decreased testicular size, Hypogonadotropic hypogonadism, Osteoporosis, Cleft palate OMIM:614838
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Infancy onset short-trunk short stature, Short neck, Short hallux, D... ORPHA:508488
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Short stature, Hepatomegaly, Jaundice, Reduced bone mineral density ORPHA:172
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Metaphyseal irregularity, Rickets, Elevated circulating parathyroid... OMIM:307800
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Cryptorchidism, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, Joi... OMIM:618000
Beta-Ketothiolase Deficiency
Vomiting, Diarrhea, Hypoglycemia, Hyperglycemia, Weight loss, Anorexia, Hepatomegaly ORPHA:134
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Gait disturbance, Osteoporosis, Vertebral compression fracture, Kyphosis ORPHA:85193
Lysinuric Protein Intolerance
Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Hepatic amyloidosis, Decreased response t... ORPHA:470
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Disproportionate short-limb short stature, Bowing of the arm, Joint hypermobility,... OMIM:619131
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Osteopenia, Decreased serum estradiol, Absence of secondary sex characteri... ORPHA:2232
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Po... OMIM:618728
Geroderma Osteodysplasticum
Platyspondyly, Osteopenia, Severe short stature, Femoral bowing, Increased susceptibility to frac... OMIM:231070
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Humerus varus, Fibular bowing, Broad tibial me... ORPHA:85188
Indolent Systemic Mastocytosis
Hepatomegaly, Osteoporosis, Splenomegaly ORPHA:98848
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Dermatosparaxis Ehlers-Danlos Syndrome
Severe short stature, Osteopenia, Gastroesophageal reflux, Rickets, Osteomalacia, Joint stiffness... ORPHA:1901
Melnick-Needles Syndrome
Anisospondyly, Craniofacial hyperostosis, Short distal phalanx of finger, Abnormal cortical bone ... ORPHA:2484
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Kyphosis, Splenomegaly, Short stature, Ataxia, Hepatomegaly, Scoliosis, Anterior b... OMIM:230650
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Growth delay, Difficulty walking, Fibular bowing, Femor... OMIM:600081
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618187
Beta-Thalassemia Major
Hepatic fibrosis, Diarrhea, Growth delay, Hypopituitarism, Hepatosplenomegaly, Hypersplenism, Adr... ORPHA:231214
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Postnatal growth retardation, Decreased serum insulin-like growth factor 1, Delayed puberty, Shor... OMIM:618985
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp... OMIM:215140
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Truncal obes... OMIM:618160
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Short stature, ... OMIM:184095
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bodies, Cortical scler... ORPHA:210110
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Osteopenia, Broad femoral neck, Moderately short stature, Abnormal metaphysis morp... ORPHA:157965
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Congenital pyloric atresia, Cryptorchidism, Vertebral segmentation defect, ... ORPHA:2617
Mccune-Albright Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia... ORPHA:562
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia, Delayed puberty, Hypogonadism OMIM:615270
Cranio-Osteoarthropathy
Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti... ORPHA:1525
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Abnormal ulnar metaphysis morphology, Genu valgum, Metaphyseal ench... ORPHA:85198
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Platyspondyly, Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Dis... ORPHA:1856
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Severe short stature, Metaphyseal irregularity, Hypoplasia of the odontoid process... OMIM:184250
Johanson-Blizzard Syndrome
Cryptorchidism, Hepatomegaly, Anal atresia, Rectovaginal fistula, Intrahepatic cholestasis, Malab... OMIM:243800
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Seizures-Scoliosis-Macrocephaly Syndrome
Broad-based gait, Gastroesophageal reflux, Overlapping toe, Cryptorchidism, Constipation, Nausea,... ORPHA:466926
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism, Hepatomegaly ORPHA:2849
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteoporosis, Osteopenia, Absence of pubertal development, Hypogonadism OMIM:615267
Congenital Myopathy 22A, Classic
Spinal rigidity, Hip contracture, Neonatal death, Thoracic scoliosis, Achilles tendon contracture... OMIM:620351
Werner Syndrome
Hypogonadism, Elevated circulating aspartate aminotransferase concentration, Low back pain, Eleva... OMIM:277700
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Female hypogonadism, Male hypogonadism, Absence of secondary sex characteristics, Bre... ORPHA:432
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Difficulty walking, Gait ataxia, Dysmetria, Osteoporosis ORPHA:529665
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Intestinal lymphangiectasia, Camptodactyly, Osteoporosis, Growth delay, Syndactyly OMIM:616006
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, In... OMIM:619487
Prader-Willi Syndrome
Small hand, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Cryptorchidis... OMIM:176270
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Platyspondyly, Broad femoral neck, Flared femoral metaphysis, Genu valgum, Proximal femoral metap... OMIM:609324
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Megarectum, Central hypothyroidism, Failure to th... ORPHA:508
Osteogenesis Imperfecta, Type X
Platyspondyly, Osteopenia, Rhizomelia, Micromelia, Genu valgum, Fibular bowing, Tibial bowing, Jo... OMIM:613848
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Genu valgum, Corner fr... ORPHA:93315
Lowry-Maclean Syndrome
High, narrow palate, Osteopenia, Abnormality of the abdominal organs, Growth delay, Bilateral cry... ORPHA:2409
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Kyphosis, Increased circu... OMIM:610489
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Pancreatic hypoplasia, Failure to thrive, Glycosuria, Intestinal m... OMIM:600001
Atelosteogenesis, Type Ii
Platyspondyly, Cervical kyphosis, Dumbbell-shaped femur, Sandal gap, Micromelia, Lumbar hyperlord... OMIM:256050
Werner Syndrome
Insulin resistance, Small hand, Rocker bottom foot, Hypogonadism, Joint stiffness, Thyroid carcin... ORPHA:902
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Familial Isolated Hyperparathyroidism
Osteopenia, Elevated circulating parathyroid hormone level, Parathyroid adenoma, Generalized oste... ORPHA:99879
Perrault Syndrome 4
Decreased serum estradiol, Gait ataxia, Hypoplasia of the ovary, Increased circulating gonadotrop... OMIM:615300
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Platyspondyly, Anisospondyly, Slender finger, Hemiatrophy of upper limb, Delayed patellar ossific... ORPHA:163649
Atypical Werner Syndrome
Limitation of joint mobility, Insulin-resistant diabetes mellitus, Sclerosis of hand bone, Hyperg... ORPHA:79474
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Pathologic fracture, Hepatosplen... ORPHA:98850
Immunodeficiency 54
Failure to thrive, Postnatal growth retardation, Adrenal insufficiency, Intrauterine growth retar... OMIM:609981
Dystonia 31
Difficulty walking, Dysphagia, Abnormal posturing OMIM:619565
Dyskeratosis Congenita
Hepatic failure, Coarse metaphyseal trabecularization, Oral leukoplakia, Intrauterine growth reta... ORPHA:1775
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Insulin resistance, Genu valgum, Type II diabetes me... ORPHA:91
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Short tubular bones of the hand, C... ORPHA:85184
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Kyphosis, Disproportionate short-limb short stature, Bowing of limbs due to multip... OMIM:259440
Bile Acid Conjugation Defect 1
Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated... OMIM:619232
Lathosterolosis
2-3 toe cutaneous syndactyly, Hepatic fibrosis, Intrahepatic cholestasis, Postaxial foot polydact... OMIM:607330
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cholestasis, Hepatic steatosis, Cirrhosis, High palate, Bile duct proliferation, Esophageal varix... OMIM:613658
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Short stature, Osteoporosis, Eosinophilic infiltration of the esophagus, Gastroesophageal reflux OMIM:620532
Oculodentodigital Dysplasia
Toe syndactyly, Abnormal form of the vertebral bodies, Hypoglycemia, Cranial hyperostosis, Campto... ORPHA:2710
Autosomal Dominant Progressive External Ophthalmoplegia
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Goiter, Gastrop... ORPHA:254892
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Osteopenia, Flattened femoral head, Posterior wedging of vertebral bodies, Growth ... ORPHA:168549
Cystinosis
Type I diabetes mellitus, Vomiting, Rickets, Portal hypertension, Hypothyroidism, Gait disturbanc... ORPHA:213
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Biconcave vertebral bodies, Joint hypermobility, Bowing of the long bones, Thin b... OMIM:617952
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos... OMIM:271650
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Glycosuria, Osteomalacia, Fibular bowing, Femoral bowin... OMIM:300009
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Osteoporosis, Diarrhea OMIM:601979
Tyrosinemia Type 1
Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepatomegaly, Hepatocellular car... ORPHA:882
Juvenile Paget Disease
Coarse metaphyseal trabecularization, Cranial hyperostosis, Bowing of the long bones, Short statu... ORPHA:2801
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Postnatal growth retardation, Dec... OMIM:616113
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Short femoral neck, Camptodactyly of finger, Lumbar hyperlordosis, C... ORPHA:2848
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Hepatic steatosis, Polycystic ovaries, Hepatomegal... ORPHA:79259
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia, Truncal obe... OMIM:615812
Premature Aging Syndrome, Okamoto Type
Osteoporosis, Diabetes mellitus OMIM:601811
Reynolds Syndrome
Gastrointestinal hemorrhage, Biliary cirrhosis, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice... OMIM:613471
Mucolipidosis Type Iii Alpha/Beta
Difficulty walking, Postnatal growth retardation, Joint stiffness, Kyphoscoliosis, Loss of ambula... ORPHA:423461
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Postnatal growth retardati... ORPHA:96184
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Disproportionate short stature, Enlarged epiphyses of the phalanges of the hand, L... OMIM:609616
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short stature, Abnormal metaphysis mor... ORPHA:93304
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Joint stiffness, Splenomegaly, Joint hypermobility, Short stature, ... OMIM:620210
Ollier Disease
Precocious puberty, Platyspondyly, Micromelia, Joint stiffness, Abnormal metaphysis morphology, O... ORPHA:296
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Kyphosis, Disproportionate short-limb short stature, Bowing of... OMIM:259420
Isolated Biliary Atresia
Periportal fibrosis, Small for gestational age, Failure to thrive, Decreased liver function, Chol... ORPHA:30391
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Finger syndactyly, Cryptorchidism, Elbow ankylosis, Abnormal metaca... ORPHA:2658
Amish Lethal Microcephaly
Limitation of joint mobility, Cleft soft palate, Decreased skull ossification, Hepatomegaly, Oste... ORPHA:99742
46,Xx Gonadal Dysgenesis
Osteopenia, Decreased serum estradiol, Streak ovary, Arachnodactyly, Delayed puberty, Short statu... ORPHA:243
Nail-Patella Syndrome
Abnormal tibia morphology, Contracture of the distal interphalangeal joint of the fingers, Patell... ORPHA:2614
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Limitation of joint mobility, Fibular bowing, Short neck, Short me... ORPHA:1427
Stuve-Wiedemann Syndrome 1
Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Short neck, Diaphyseal undertubul... OMIM:601559
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Fibular bowing,... OMIM:300554
Macs Syndrome
Recurrent aphthous stomatitis, Cryptorchidism, Joint hypermobility, Brachydactyly, Short stature,... OMIM:613075
Diamond-Blackfan Anemia 7
Osteopenia, Growth delay, Short thumb, Intrauterine growth retardation, Esophagitis, Triphalangea... OMIM:612562
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Cholestasis, Humerus varus, Esophagitis, Genu valgum, Abnorma... ORPHA:198
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Bowing of the legs, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Brac... OMIM:612847
Rothmund-Thomson Syndrome, Type 2
Small hand, Annular pancreas, Short thumb, Anteriorly placed anus, Hypogonadism, Cryptorchidism, ... OMIM:268400
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Bicoronal synostosis, Cryptorchidism, Joint hypermobility, Hypogonadotropic hypogonad... OMIM:619718
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Postnatal growth retardation, Dysplasia of the femoral head, Arachnodac... ORPHA:536467
Smith-Mccort Dysplasia 1
Platyspondyly, Metaphyseal irregularity, Hypoplasia of the odontoid process, Limitation of joint ... OMIM:607326
Prolactinoma
Secondary growth hormone deficiency, Osteopenia, Female hypogonadism, Male hypogonadism, Adrenoco... ORPHA:2965
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Small hand, Hypoplasia of the odontoid process, Talipes equinovarus, Irregularity ... ORPHA:85172
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Vomiting, Abnormality of the Leydig cells, Adrena... ORPHA:289548
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Radioulnar synostosis, Short neck, Talipes equinovarus, Broad d... OMIM:245600
Kniest Dysplasia
Delayed epiphyseal ossification, Platyspondyly, Rhizomelia, Limitation of joint mobility, Tracheo... OMIM:156550
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly, Abnormal metacarpal morphology OMIM:269630
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Vomiting, Abnormality of the Leydig cells, Absenc... ORPHA:168558
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Bifid uvula, Hypoplasia of the odontoid process, Atlantoaxial instability, Limited... OMIM:183900
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated circulating hepatic transaminase concentration, Rickets, Glycosuria, Hypoglycemia, Short... OMIM:616026
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Severe short stature, Limitation of joint mobility, Micromelia, Coxa vara, Short palm ORPHA:168555
Brachyolmia, Maroteaux Type
Platyspondyly, Short stature, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Thin metacarpal cortices, Joint hypermobility, Kyphoscoliosis, Bowed humerus, Shor... OMIM:616507
Estrogen Resistance
Osteopenia, Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Pol... OMIM:615363
Hajdu-Cheney Syndrome
Genu valgum, Fibular bowing, Cryptorchidism, Crowded carpal bones, Short neck, Dislocated radial ... OMIM:102500
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Genu valgum, Proportionate short stature, Flat capital femoral epiphysis, Genu varum OMIM:608361
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral... OMIM:301068
Hajdu-Cheney Syndrome
Decreased skull ossification, Bowing of the long bones, Short neck, Hepatomegaly, Patent ductus a... ORPHA:955
Pseudodiastrophic Dysplasia
Platyspondyly, Severe short stature, Rhizomelia, Hypoplasia of the odontoid process, Tongue-like ... OMIM:264180
Spondyloocular Syndrome
Platyspondyly, Osteopenia, Overlapping toe, Vertebral compression fracture, Arachnodactyly, Femur... OMIM:605822
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Rhizomelia, Abnormal metaphysis morphology, Decreased skull ossification, Bowing o... ORPHA:93267
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Hypoplasia of the ulna, Ataxia, Osteoporosis, High palat... OMIM:615398
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Intestinal bleeding, Oral leukoplakia, Short femoral neck, Pathologic fracture, Postn... OMIM:612199
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Osteopenia, Hepatitis, Pancreatic hypoplasia, Elevated circulating thyroid-stim... OMIM:610199
Osteogenesis Imperfecta
Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Intestinal obstruction, Decr... ORPHA:666
Analbuminemia
Osteoporosis, Patent ductus arteriosus OMIM:616000
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Growth delay, Osteomalacia, Rickets of the... ORPHA:289176
Bruck Syndrome 2
Platyspondyly, Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to... OMIM:609220
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis, Camptodactyly of finger ORPHA:3180
Autosomal Recessive Kenny-Caffey Syndrome
Small hand, Postnatal growth retardation, Intrauterine growth retardation, Decreased skull ossifi... ORPHA:93324
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Short n... ORPHA:485
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Duodenal stenosis, Intrauterine growth retardation, Cryptorc... ORPHA:2470
Tropical Calcific Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis, Pancreatic calcification,... OMIM:608189
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased... OMIM:613986
Tbck-Related Intellectual Disability Syndrome
High, narrow palate, Macroglossia, Clinodactyly, Decreased response to growth hormone stimulation... ORPHA:488632
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Elbo... OMIM:184252
Cleidocranial Dysplasia
High, narrow palate, Abnormal sacrum morphology, Genu valgum, Clinodactyly of the 5th finger, Abn... ORPHA:1452
Hypophosphatasia, Infantile
Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Vomiting, Disproportionate short... OMIM:241500
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatic failure, Failure to thrive, Hypoglycemia, Acute hepatic fail... OMIM:276700
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Bilateral cryptorchidism, Decreased testicular size, Hypogonadotropic hypogonadism, D... ORPHA:2326
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cort... OMIM:144750
Cantú Syndrome
Platyspondyly, Short distal phalanx of finger, Finger syndactyly, Cuboid-shaped vertebral bodies,... ORPHA:1517
Refractory Celiac Disease
Protein-losing enteropathy, Elevated circulating hepatic transaminase concentration, Jejunitis, V... ORPHA:398063
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hyperg... OMIM:124000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abnormal metatarsal morph... ORPHA:93360
Menkes Disease
Metaphyseal spurs, Intrauterine growth retardation, Joint hypermobility, Metaphyseal widening, Sh... OMIM:309400
Craniofaciofrontodigital Syndrome
Osteopenia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Macroglossia, Finger joint hype... ORPHA:363705
Nestor-Guillermo Progeria Syndrome
Growth delay, Pathologic fracture, Decreased serum leptin, Joint stiffness, Mandibular osteolysis... OMIM:614008
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Elbow flexion contracture, Intrauterine growth retardation, Cryptorchidism, Osteoporo...