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Gene: Cnot3 MGI:2385261

Gene Summary

Name:

CCR4-NOT transcription complex, subunit 3

Synonyms:

A930039N10Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased bone mineral density	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	2.80×10^-09
hydrometra	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	0.00
decreased circulating triglyceride level	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	7.17×10^-07
hyperactivity	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	5.90×10^-05
absent external male genitalia	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	6.18×10^-08
decreased bone mineral content	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	1.68×10^-08
abnormal behavior	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	1.19×10^-06
abnormal kidney morphology	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	0.00
increased circulating bilirubin level	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	9.67×10^-06
increased thigmotaxis	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	1.73×10^-06
abnormal liver morphology	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	0.00
improved glucose tolerance	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	1.91×10^-07
abnormal male genitalia morphology	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	6.18×10^-08
abnormal uterus morphology	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	0.00
decreased locomotor activity	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	1.66×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

Gross Pathology and Tissue Collection

Images

25 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Human diseases caused by Cnot3 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 Cnot3 (1 diseases)
Human diseases predicted to be associated with Cnot3 (858 diseases)

The table below shows human diseases associated to Cnot3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies		Low posterior hairline	OMIM:618672

The table below shows human diseases predicted to be associated to Cnot3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Ethanolaminosis	Cardiomegaly	OMIM:227150
Extensor Tendons Of Finger Anomalies	Osteoporosis, Multiple lipomas, Limitation of joint mobility, Camptodactyly of finger	ORPHA:3294
Hyaline Fibromatosis Syndrome	Osteopenia, Failure to thrive, Progressive flexion contractures, Osteoporosis, Flexion contractur...	OMIM:228600
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Type II diabetes mellitus, Gout, Hypertriglyceridemia, Osteoporosis, Impaire...	OMIM:610947
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentr...	ORPHA:369
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Anemia, Osteoporosis, Osteolysis	ORPHA:100024
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Dorsocervical fat pad, Low anterior hairline, Joint hypermobility, Hyperinsulinemic hypoglycemia,...	OMIM:616033
Ramon Syndrome	Failure to thrive, Abnormal dental enamel morphology, Generalized hirsutism, Diabetes mellitus, O...	ORPHA:3019
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis	OMIM:608805
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology, Multiple lipomas	ORPHA:1879
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615269
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Dystrophic toenail, Abnormal cortical bone morphology, Dystrophic fingernail...	ORPHA:970
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, L...	OMIM:615381
Congenital Disorder Of Glycosylation, Type Iik	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Joint hypermobi...	OMIM:614727
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia, Decreased body weight	OMIM:613606
Medial Condensing Osteitis Of The Clavicle	Limited shoulder movement, Patchy reduction of bone mineral density	ORPHA:57196
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:618052
Winchester Syndrome	Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Hirsutism	OMIM:277950
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ...	ORPHA:79301
Juvenile Hyaline Fibromatosis	Abnormal hair morphology, Joint stiffness, Progressive flexion contractures, Osteolysis	ORPHA:2028
Atrial Fibrillation, Familial, 6	Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy...	OMIM:612201
Hypercholanemia, Familial, 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Osteopenia, Increased serum bile ac...	OMIM:619256
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Alopecia, Increased circulating cortisol level, Dorsocervical fat pad, Primary hyperc...	OMIM:615830
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino...	OMIM:619868
Paget Disease Of Bone 4	Osteolysis	OMIM:606263
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Xanthoma Disseminatum	Osteolysis	ORPHA:158003
Aggressive Systemic Mastocytosis	Decreased liver function, Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplenism, L...	ORPHA:98850
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Abnormal adipo...	ORPHA:93160
Hutchinson-Gilford Progeria Syndrome	Generalized osteoporosis, Alopecia, Absence of subcutaneous fat, Osteolysis	OMIM:176670
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Osteoporosis	Osteoporosis	OMIM:166710
Gorham-Stout Disease	Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Osteolysis involving bones...	ORPHA:73
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Type I diabetes mellitus, Carpal osteolysis, Osteolysis involving tarsal bones, Incre...	ORPHA:371428
Flynn-Aird Syndrome	Alopecia, Joint stiffness, Increased bone density with cystic changes, Alopecia of scalp, Osteopo...	OMIM:136300
Autosomal Recessive Distal Osteolysis Syndrome	Osteolysis	ORPHA:2776
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio...	ORPHA:79230
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona...	ORPHA:79234
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia, Hypogonadism, Cryptorchidism, Ataxia, Micropenis	ORPHA:3363
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Weight loss, Osteolysis	ORPHA:391
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Joint hypermobility	ORPHA:2787
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:619874
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615271
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Limitation of joint mobility, Carpal osteolysis, Camptodactyly of finger, Metacarpal osteolysis, ...	ORPHA:2774
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Osteoporosis, Inguinal hernia	ORPHA:2958
Rosaï-Dorfman Disease	Anemia, Osteolysis	ORPHA:158014
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Osteoporosis, Macrovesicular hepatic steatosis, Failure to thrive	OMIM:618234
Rotor Syndrome	Bilirubinuria, Hyperbilirubinemia, Intermittent jaundice, Porphyrinuria, Jaundice, Conjugated hyp...	ORPHA:3111
Felty Syndrome	Cellulitis, Limitation of joint mobility, Abnormal lymphocyte morphology, Splenomegaly, Synovitis...	ORPHA:47612
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Prieto Syndrome	Osteoporosis, Inguinal hernia	OMIM:309610
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Osteoporosis, Finger joint contracture, Hypoglycemia, Flexion contracture of toe	ORPHA:48431
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin resistance, Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Hyperlipidemia...	ORPHA:90154
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef...	OMIM:613876
Analbuminemia	Osteoporosis, Lipodystrophy, Hypercholesterolemia	OMIM:616000
Sialidosis Type 2	Umbilical hernia, Inguinal hernia, Splenomegaly, Hepatomegaly, Osteoporosis, Flexion contracture	ORPHA:87876
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill...	ORPHA:3092
Keratoderma Hereditarium Mutilans	Alopecia, Osteolysis	ORPHA:494
Morgagni-Stewart-Morel Syndrome	Obesity, Hirsutism, Hypercholesterolemia, Osteoarthritis, Osteoporosis, Hyperostosis frontalis in...	ORPHA:77296
H Syndrome	Alopecia, Hypertrichosis, Microcytic anemia, Abnormal eyebrow morphology, Hepatosplenomegaly, Rec...	ORPHA:168569
Isolated Glycerol Kinase Deficiency	Osteoporosis	ORPHA:408
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Rickets, Failure to thrive, Hepatomegaly, Osteoporosis	OMIM:560000
Infantile Myofibromatosis	Chondrocalcinosis, Limitation of joint mobility, Abnormal hair morphology, Neoplasm of the pancre...	ORPHA:2591
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Failure to thrive in infancy, Osteomyelitis, Abscess, Splenomegaly, Neut...	OMIM:612852
Frank-Ter Haar Syndrome	Umbilical hernia, Camptodactyly of finger, Joint stiffness, Inguinal hernia, Osteolysis	ORPHA:137834
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr...	OMIM:605814
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Alopecia, Sparse eyebrow, Sparse scalp hair, Failure to thrive, Pathologic fracture,...	OMIM:614008
Proteus Syndrome	Mandibular hyperostosis, Cerebriform connective tissue nevus, Facial hyperostosis, Splenomegaly, ...	OMIM:176920
Crigler-Najjar Syndrome Type 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Osteosarcoma	Pathologic fracture, Weight loss, Osteolysis	ORPHA:668
Rothmund-Thomson Syndrome, Type 1	Nail dystrophy, Absent eyelashes, Absent eyebrow, Osteoporosis, Sparse hair	OMIM:618625
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub...	OMIM:210500
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ...	OMIM:214150
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Hyperglycemia, Hyp...	OMIM:248370
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Failure to thrive, Generalized lipodystrophy, Slender build, Small for gestational age	ORPHA:50811
Dubin-Johnson Syndrome	Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality	OMIM:237500
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Osteoporosis, Hypopigmentation of hair	ORPHA:2786
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Alopecia, Limitation of joint mobility, Breast aplasia, Abnormal eyebrow morp...	ORPHA:90153
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis, Obesity, Diabetes mellitus	OMIM:610628
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intoleran...	OMIM:608612
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, R...	ORPHA:79303
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Osteopenia, Elevated circulating hepatic transaminase concentration, Failure ...	OMIM:613327
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Ruijs-Aalfs Syndrome	Premature graying of hair, Elbow flexion contracture, Decreased body weight, Lipodystrophy, Osteo...	OMIM:616200
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Ollier Disease	Anemia, Joint stiffness, Osteolysis	ORPHA:296
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Decreased body weight, Reduced bone mineral density, Small for gestational age, ...	OMIM:618392
Tenosynovial Giant Cell Tumor	Chondrocalcinosis, Limitation of joint mobility, Localized osteoporosis, Joint stiffness, Joint h...	ORPHA:66627
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentration	OMIM:606785
Ghosal Hematodiaphyseal Dysplasia	Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly	ORPHA:1802
Hemochromatosis, Type 1	Alopecia, Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomeg...	OMIM:235200
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly	ORPHA:2204
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone	ORPHA:564003
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo...	OMIM:115197
Warburg Micro Syndrome 1	Facial hypertrichosis, Failure to thrive, Hypertrichosis, Joint hypermobility, Osteoporosis	OMIM:600118
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Osteopenia, Hepatic failure, Rickets, Glycosuria, Failure to thrive, ...	ORPHA:2088
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Congestive...	OMIM:614096
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Propionic Acidemia	Failure to thrive, Hypoglycemia, Pancytopenia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neut...	OMIM:606054
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu...	ORPHA:2790
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Failure to thrive, Hypoglycemia, Low anterior hairline, Low posterior hairlin...	ORPHA:73272
Bile Acid Conjugation Defect 1	Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated...	OMIM:619232
Malaria	Hyperbilirubinemia, Acute kidney injury, Gait imbalance, Elevated circulating C-reactive protein ...	ORPHA:673
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:264580
Hall-Riggs Syndrome	Osteoporosis, Enamel hypoplasia, Failure to thrive	OMIM:234250
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Familial Hyperprolactinemia	Osteoporosis, Osteopenia	ORPHA:397685
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c...	OMIM:214900
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati...	ORPHA:400
Hypergonadotropic Hypogonadism-Cataract Syndrome	Osteoporosis, Reduced bone mineral density, Recurrent fractures	ORPHA:2410
Gaucher Disease Type 1	Splenic infarction, Osteopenia, Cholelithiasis, Hepatic failure, Pathologic fracture, Hepatosplen...	ORPHA:77259
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Jaundice,...	ORPHA:79239
Niemann-Pick Disease, Type A	Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate amin...	OMIM:257200
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Pathologic fracture, Hepatic steatosis, Increased susceptibility to fractures, Calvarial hyperost...	ORPHA:52430
Isolated Polycystic Liver Disease	Increased total bilirubin, Multiple renal cysts, Hepatomegaly, Polycystic liver disease, Abnormal...	ORPHA:2924
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia...	ORPHA:79240
Glycine Encephalopathy 1	Hyperglycinuria, Hyperglycinemia, Irritability, Aggressive behavior, Lethargy, Hyperactivity, Res...	OMIM:605899
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentration	OMIM:218800
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Increased circulating cortisol level, Hyperaldosteronism, Dorsocervical fat pad, Glucos...	ORPHA:189427
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Craniofacial osteosclerosis, Osteomyelitis, Hyperostosis, Weight loss, Arthritis, Anemia, Osteolysis	ORPHA:324964
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi...	ORPHA:79106
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Hyperglycemia, Increased body weight, Abdominal obesity, Os...	OMIM:615954
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Hypocholesterolemia, Hepatomegaly, Osteoporosis, Steatorrhea	OMIM:266510
Premature Aging Syndrome, Okamoto Type	Abnormal hair morphology, Osteoporosis, Diabetes mellitus	OMIM:601811
Sclerosteosis	Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density	ORPHA:3152
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Osteoporosis, Dentinogenesis imperfecta	ORPHA:71267
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Abnormal cementum morphology, Mandibular osteomyelitis, Abno...	ORPHA:83451
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Jaundice, Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa...	OMIM:620135
Pseudopseudohypoparathyroidism	Osteoporosis, Obesity, Enamel hypoplasia	OMIM:612463
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Hepatomegaly, Osteoporosis,...	ORPHA:98848
Hyperbilirubinemia, Rotor Type	Jaundice, Conjugated hyperbilirubinemia	OMIM:237450
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Bilateral cryptorchidism, Elevated circulating aspartate aminotransfera...	OMIM:619685
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Type I diabetes mellitus, Premature graying of hair, Abnormal hair morphology, Joint stiffness, R...	ORPHA:1979
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Reduced bone mineral density	ORPHA:172
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia	OMIM:129850
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Fractures of the long bones, Abnormal hair morphology, Nail dystrophy, Osteoporosis	ORPHA:319195
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Alopecia, Rickets, Rickets of the lower limbs, Sparse bone trabe...	OMIM:600785
Symptomatic Form Of Hfe-Related Hemochromatosis	Hyperglycemia, Joint stiffness, Portal hypertension, Splenomegaly, Chronic hepatic failure, Cirrh...	ORPHA:465508
Mucolipidosis Type Iii Alpha/Beta	Umbilical hernia, Joint stiffness, Generalized osteoporosis, Flexion contracture, Osteolysis	ORPHA:423461
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
Hyperprolinemia, Type I	Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Aggressive behavior, Hyperactivi...	OMIM:239500
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan...	OMIM:232700
Desmoid Tumor	Limitation of joint mobility, Osteolysis	ORPHA:873
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis	OMIM:167250
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ...	ORPHA:100026
Dermatoosteolysis, Kirghizian Type	Dystrophic toenail, Dystrophic fingernails, Osteoarthritis, Tarsal synostosis, Osteolysis	ORPHA:1657
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f...	ORPHA:158057
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Fibrous Dysplasia Of Bone	Rickets, Increased circulating cortisol level, Osteomalacia, Cortical irregularity, Pathologic fr...	ORPHA:249
Caffey Disease	Cellulitis, Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperos...	ORPHA:1310
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Renal insuffi...	ORPHA:890
Werner Syndrome	Elevated circulating aspartate aminotransferase concentration, Elevated hemoglobin A1c, Alopecia ...	OMIM:277700
Werner Syndrome	Insulin resistance, Abnormal hair whorl, Chondrocalcinosis, Premature graying of hair, Slender bu...	ORPHA:902
Osteogenesis Imperfecta, Type Xxiii	Insulin resistance, Osteopenia, Truncal obesity, Reduced bone mineral density, Recurrent fractures	OMIM:620639
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Joint hypermobility, Osteoporosis, Sparse hair, Craniosynostosis	ORPHA:1515
Fanconi-Bickel Syndrome	Hypouricemia, Osteomalacia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypophos...	OMIM:227810
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly	OMIM:237800
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Rickets, Abnormality of subcutaneous fat tissue, Osteomalacia, Joint stiffness, Ingui...	ORPHA:1901
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnorma...	OMIM:614886
Porphyria, Congenital Erythropoietic	Osteopenia, Cholelithiasis, Joint contracture of the hand, Atypical scarring of skin, Alopecia, H...	OMIM:263700
Aromatase Deficiency	Delayed epiphyseal ossification, Osteopenia, Insulin resistance, Obesity, Type II diabetes mellit...	ORPHA:91
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Rickets, Alope...	OMIM:212750
Pachydermoperiostosis	Limitation of joint mobility, Osteomyelitis, Abnormal cortical bone morphology, Splenomegaly, Hep...	ORPHA:2796
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615267
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Osteoporosis, Generalized ost...	OMIM:613849
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst, Polycystic liver disease, Increased total bilirubin	OMIM:174050
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episo...	OMIM:211600
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Limitation of joint mobility, Failure to thrive, Hepatic steatosis, Inguinal hernia, Pancreatitis...	OMIM:236200
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased urinary glycerol, Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubine...	ORPHA:247598
Ck Syndrome	Slender build, Abnormal cortical bone morphology, Joint hypermobility	OMIM:300831
Maffucci Syndrome	Recurrent fractures, Osteolysis	ORPHA:163634
Morm Syndrome	Micropenis, Aggressive behavior, Hyperactivity	ORPHA:75858
Papillon-Lefèvre Syndrome	Cigarette-paper scars, Sparse body hair, Osteolysis, Hypertrichosis, Nail dystrophy, Generalized ...	ORPHA:678
Osteogenesis Imperfecta, Type Xiii	Dentinogenesis imperfecta, Umbilical hernia, Long eyelashes, Recurrent fractures, Decreased body ...	OMIM:614856
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Cirrhotic Cardiomyopathy	Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef...	ORPHA:57777
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Alopecia, Elevated circulating hepatic transaminase concentration, Small for gestatio...	ORPHA:2959
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Dentinogenesis imperfecta, Limitation of joint mobility, Abnormal cortical b...	ORPHA:166277
Gilbert Syndrome	Unconjugated hyperbilirubinemia, Hepatic failure, Elevated circulating hepatic transaminase conce...	OMIM:143500
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Increased circulating cortisol level, Primary hypercortisolism, Pancreatitis, Truncal...	OMIM:610475
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615270
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Obesity, Osteoporosis, Recurrent fractures, Flexion contracture of toe	ORPHA:3409
Bruck Syndrome 1	Ankle flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures, Knee...	OMIM:259450
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Splenomegaly, Intermittent jaundice	OMIM:179700
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Bachmann-Bupp Syndrome	Hypoglycemia, Hyperbilirubinemia, Cryptorchidism, Aggressive behavior, Attention deficit hyperact...	OMIM:619075
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ...	OMIM:613070
Infantile Sialic Acid Storage Disease	Osteopenia, Splenomegaly, Hepatomegaly, Nephrotic syndrome, Conjugated hyperbilirubinemia	OMIM:269920
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:616299
Perrault Syndrome 1	Osteoporosis	OMIM:233400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated circulating hepatic transaminase concentration, Rickets, Glycosuria, Hypoglycemia, Large...	OMIM:616026
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Osteopenia, Breast hypoplasia, Hyperinsulinemia, Glucose intoler...	ORPHA:785
Idiopathic Hypercalciuria	Osteoporosis, Osteopenia	ORPHA:2197
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Osteoporosis	OMIM:616006
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Osteopenia, Abnormality of carpal bone ossification, Failure to thrive, Generalized lipodystrophy...	OMIM:608154
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Metatropic Dysplasia	Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodactyly of finger, ...	ORPHA:2635
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Hijazi-Reis Syndrome	Hyperbilirubinemia, Gait disturbance, Motor stereotypy	OMIM:301094
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Gout, Hyperli...	OMIM:232200
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Lethargy, Neonatal hyperbilirubinemia, Delayed proximal femoral epip...	ORPHA:95717
Juvenile Paget Disease	Osteoporosis, Coarse metaphyseal trabecularization, Recurrent fractures, Cranial hyperostosis	ORPHA:2801
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Hypophosphatasia, Adult	Chondrocalcinosis, Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractu...	OMIM:146300
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Abnormality of the liver, Mac...	ORPHA:2169
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Chromomycosis	Ankylosis, Atypical scarring of skin, Osteolysis	ORPHA:182
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Failure to thrive, Sparse bone trabeculae, Thin bony co...	OMIM:600081
Osteoporosis-Pseudoglioma Syndrome	Osteoporosis, Osteopenia, Increased susceptibility to fractures, Joint hypermobility	ORPHA:2788
Ehlers-Danlos Syndrome, Classic-Like, 2	Cellulitis, Osteopenia, Atypical scarring of skin, Umbilical hernia, Atrophic scars, Thin eyebrow...	OMIM:618000
Lathosterolosis	Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Hepatic fibrosis, Horse...	OMIM:607330
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Hypercholanemia, Familial 1	Steatorrhea, Rickets, Failure to thrive	OMIM:607748
Cantu Syndrome	Umbilical hernia, Long eyelashes, Curly eyelashes, Large for gestational age, Osteoporosis, Conge...	OMIM:239850
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Bruck Syndrome	Osteoporosis, Joint stiffness, Arthrogryposis multiplex congenita, Recurrent fractures	ORPHA:2771
Tyrosinemia Type 1	Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepatomegaly, Hepatocellular car...	ORPHA:882
Hartnup Disorder	Neutral hyperaminoaciduria, Episodic ataxia, Emotional lability, Attention deficit hyperactivity ...	OMIM:234500
Beta-Thalassemia Major	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231214
Hajdu-Cheney Syndrome	Osteopenia, Coarse hair, Coarse metaphyseal trabecularization, Failure to thrive, Umbilical herni...	ORPHA:955
Infantile Systemic Hyalinosis	Osteopenia, Failure to thrive, Camptodactyly of finger, Osteomalacia, Joint stiffness, Increased ...	ORPHA:2176
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis, Aplastic anemia, Failure to thrive, Premature graying of hair, Pancytopenia, Le...	OMIM:613989
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi...	ORPHA:3077
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Thin bony cortex	OMIM:265900
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula...	ORPHA:64743
Mucolipidosis Type Iii	Craniofacial hyperostosis, Joint stiffness, Reduced bone mineral density, Inguinal hernia	ORPHA:577
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Hepatomegaly, Hyperactivity, Hypertriglyceridemia	OMIM:615924
Diffuse Cutaneous Systemic Sclerosis	Flexion contracture, Osteolysis, Arthritis	ORPHA:220393
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Ankylosis, Alopecia, Sparse hair, Osteolysis	ORPHA:659
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sclerosis of skull base, Increased susceptibility to fractures, Oste...	OMIM:602080
Mixed Connective Tissue Disease	Alopecia, Leukopenia, Joint stiffness, Splenomegaly, Arthritis, Hepatomegaly, Hemolytic anemia, O...	ORPHA:809
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Nasu-Hakola Disease	Acute leukemia, Limitation of joint mobility, Bone cyst, Abnormal adipose tissue morphology, Redu...	ORPHA:2770
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H...	OMIM:608836
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Arthrogryposis multiplex cong...	OMIM:613404
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Cholestasis, Hyperbilirubinemia, Polyphagia, Decreased circulating cortisol level, Hypoglycemic s...	OMIM:609734
Mandibuloacral Dysplasia	Insulin resistance, Alopecia, Increased subcutaneous truncal adipose tissue, Increased circulatin...	ORPHA:2457
Wolcott-Rallison Syndrome	Chronic kidney disease, Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated c...	ORPHA:1667
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Pituitary Adenoma 4, Acth-Secreting	Obesity, Glucose intolerance, Hirsutism, Abdominal obesity, Osteoporosis, Impaired glucose tolerance	OMIM:219090
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteoporosis, Osteopenia	ORPHA:529665
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Glycogen Storage Disease Ib	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Gout, Splenom...	OMIM:232220
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Camptodactyly of finger, Camptodactyly of toe, Knee osteoarthritis, ...	ORPHA:2848
Senior-Boichis Syndrome	Chronic kidney disease, Malformation of the hepatic ductal plate, Renal hypoplasia, Hepatic fibro...	ORPHA:84081
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Osteoporosis, Eosinophilia	OMIM:620532
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Failure to thrive, Osteomalacia, Le...	ORPHA:289157
Shashi-Pena Syndrome	Highly arched eyebrow, Hypoglycemia, Hypertrichosis, Long eyelashes, Cervical C2/C3 vertebral fus...	OMIM:617190
Progressive Pseudorheumatoid Dysplasia	Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteopor...	OMIM:208230
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Alopecia universalis, Rickets, Failure to thrive, Sparse bone tr...	OMIM:277440
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:613280
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Increased circulating cortisol level, Primary hypercortisolism, Truncal obesity, Oste...	OMIM:219080
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Failure to thrive, Hypophosphatemic rickets, Sparse bon...	OMIM:241530
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic fail...	OMIM:251880
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Occipital Horn Syndrome	Synostosis of joints, Osteopenia, Atypical scarring of skin, Keloids, Rickets, Hepatitis, Coarse ...	ORPHA:198
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Increased suscept...	ORPHA:98849
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Type I diabetes mellitus, Insulin-resistant diabetes mellitus, Irregular tarsal ossification, Hep...	OMIM:226980
Phenylketonuria	Depression, Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid ...	OMIM:261600
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
Sapho Syndrome	Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractures, Hyperostosis, Synovitis, Arthrit...	ORPHA:793
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:614880
Ovarian Dysgenesis 8	Osteoporosis, Eunuchoid habitus	OMIM:618187
Short Stature, Dauber-Argente Type	Osteopenia, Reduced bone mineral density, Fasting hyperinsulinemia	OMIM:619489
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Rickets, Failure to thrive, Sparse bone trabeculae, Enamel hypop...	OMIM:264700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Xanthelasma, Gout, Hepatic st...	ORPHA:79259
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Cholestasis, Benign Recurrent Intrahepatic, 1	Intermittent jaundice, Increased serum bile acid concentration, Pancreatitis, Intrahepatic choles...	OMIM:243300
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volum...	OMIM:611590
Refractory Celiac Disease	Normocytic anemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Ab...	ORPHA:398063
Dubin-Johnson Syndrome	Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundi...	ORPHA:234
Pontocerebellar Hypoplasia, Type 2E	Osteoporosis, Flexion contracture, Failure to thrive	OMIM:615851
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormality of the liver, Hip contracture, Osteolysis involving bones of the upper limbs, Thrombo...	ORPHA:464321
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoporosis, Limitation of joint mobility, Osteoarthritis, Synostosis of carpal bones	ORPHA:93351
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Depression, Attention deficit hyperactivity disorder, Lethargy, Hype...	ORPHA:90674
Atypical Werner Syndrome	Limitation of joint mobility, Insulin-resistant diabetes mellitus, Sclerosis of hand bone, Abnorm...	ORPHA:79474
Erdheim-Chester Disease	Osteomyelitis, Xanthelasma, Weight loss, Anemia, Increased bone mineral density, Osteolysis, Retr...	ORPHA:35687
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta, Thin bony cortex, Multiple prenatal fractures, Reduced bone mineral de...	OMIM:619795
Geroderma Osteodysplastica	Joint hypermobility, Hernia, Abnormal bone ossification, Osteoporosis, Recurrent fractures	ORPHA:2078
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Obesity, Subcutaneous ossification, Enamel hypoplasia	OMIM:103580
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Alopecia, Multiple lipomas, Lipodystrophy, Abnormal eyelash morphology...	ORPHA:2396
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Osteoporosis	OMIM:601979
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Hypoglycemia, Decreased liver functi...	OMIM:617093
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Osteogenesis Imperfecta, Type Xviii	Umbilical hernia, Long eyelashes, Joint hypermobility, Thin bony cortex, Generalized osteoporosis...	OMIM:617952
Mycetoma	Painless fractures due to injury, Pathologic fracture, Osteomyelitis, Osteoporosis, Bone cyst, Ab...	ORPHA:2583
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Reduced bone mineral density, Alopecia of scalp, Low posterior hairlin...	ORPHA:2617
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Shoulder flexion contracture, Umbilical hernia, Long eyelashes in ...	OMIM:255800
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia, Depression, Tip-toe gait, Stereotypical body rocking, Aggressive beh...	ORPHA:293939
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Cystinosis	Type I diabetes mellitus, Rickets, Failure to thrive, Portal hypertension	ORPHA:213
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Failure to thrive, Recurrent fractures, Ankylosis, Osteoporosis, Increased bone miner...	OMIM:239000
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hyperglycemia, Ataxia, Hepatomegaly, Anorexia, Tip-toe gait, Lactica...	ORPHA:3008
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta...	ORPHA:53035
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp...	OMIM:618892
Autoimmune Hepatitis	Depression, Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased t...	ORPHA:2137
Menkes Disease	Alopecia, Joint hypermobility, Brittle hair, Osteoporosis, Sparse hair	OMIM:309400
Lowry-Maclean Syndrome	Osteopenia, Abnormality of the abdominal organs, Congenital diaphragmatic hernia, Inguinal hernia...	ORPHA:2409
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Axial Osteomalacia	Increased bone mineral density, Polycystic liver disease, Osteomalacia	OMIM:109130
Spondylo-Ocular Syndrome	Low posterior hairline, Osteoporosis, Abnormal eyebrow morphology, Joint hypermobility	ORPHA:85194
Odontochondrodysplasia 1	Osteoporosis, Dentinogenesis imperfecta, Delayed ossification of carpal bones, Joint hypermobility	OMIM:184260
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Osteoporosis	OMIM:614838
Amish Lethal Microcephaly	Hepatomegaly, Osteoporosis, Limitation of joint mobility, Decreased skull ossification	ORPHA:99742
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Ankle flexion contracture, Carpal osteolysis, Interphalangeal joint contracture of fi...	OMIM:259600
Calvarial Doughnut Lesions With Bone Fragility	Osteoporosis, Osteopenia, Recurrent fractures	OMIM:126550
Gaucher Disease	Pancytopenia, Cirrhosis, Hepatomegaly, Abnormal bone structure, Osteopenia, Cholelithiasis, Osteo...	ORPHA:355
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T...	ORPHA:755
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Increased circulating cortisol level, Primary hypercortisolism, Truncal obesity, Oste...	OMIM:610489
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Wilson Disease	Hypouricemia, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhos...	OMIM:277900
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm...	OMIM:619051
Hepatoerythropoietic Porphyria	Osteopenia, Facial hypertrichosis, Erythroid hyperplasia, Splenomegaly, Loss of eyelashes, Scarri...	ORPHA:95159
Grant Syndrome	Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension	OMIM:619064
Citrullinemia Type Ii	Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Restlessness, Mania, Hypoproteinemia, ...	ORPHA:247585
Pseudohypoparathyroidism, Type Ic	Osteoporosis, Obesity, Enamel hypoplasia	OMIM:612462
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Breast hypoplasia, Obesity, Osteoporosis, Reduced bone mineral density, Recurrent fractures	ORPHA:2235
Idiopathic Juvenile Osteoporosis	Osteoporosis, Recurrent fractures	ORPHA:85193
Kaposiform Lymphangiomatosis	Fractures of the long bones, Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thromb...	ORPHA:464329
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Hypoplasia of the uterus, Hypospadias, Elevate...	OMIM:137920
Alpha-Mannosidosis, Infantile Form	Osteopenia, Highly arched eyebrow, Cranial hyperostosis, Umbilical hernia, Hepatosplenomegaly, Pa...	ORPHA:309282
Familial Dysautonomia	Recurrent fractures, Acrocyanosis, Osteolysis, Abnormal peritoneum morphology	ORPHA:1764
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ...	ORPHA:324410
Immunodeficiency 12	Osteoporosis, Abnormal lymphocyte count, Decreased body weight	OMIM:615468
Abetalipoproteinemia	Hypoalbuminemia, Osteopenia, Broad-based gait, Hypotriglyceridemia, Hepatic fibrosis, Elevated ci...	ORPHA:14
Congenital Erythropoietic Porphyria	Osteopenia, Facial hypertrichosis, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomega...	ORPHA:79277
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:333
Familial Isolated Hyperparathyroidism	Generalized osteoporosis, Osteopenia, Chondrocalcinosis	ORPHA:99879
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Glycosuria, Osteomalacia, Sparse bone trabeculae, Thin ...	OMIM:300009
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Osteopenia, Increased susceptibility to fractures	OMIM:612287
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Insulin insensitivity, Bifid scrotum, Bilateral cryptorchidism, Azoospermia...	ORPHA:90797
Interatrial Communication	Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai...	ORPHA:1478
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Increased u...	ORPHA:348
Incontinentia Pigmenti	Alopecia, Dystrophic toenail, Supernumerary nipple, Abnormal hair morphology, Camptodactyly of fi...	ORPHA:464
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyp...	OMIM:617049
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Fa...	OMIM:619487
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Failure to thrive, Obesity, Type II diabetes mellitus, Abdominal obesity, Osteoporosi...	ORPHA:398079
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Abnormal circulating cholesterol concentration, Abnor...	ORPHA:168558
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis, Alopecia of scalp	ORPHA:199354
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia	OMIM:614702
Dyskeratosis Congenita	Hepatic failure, Alopecia, Coarse metaphyseal trabecularization, White hair, Premature graying of...	ORPHA:1775
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequ...	OMIM:612714
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Failure to thrive	OMIM:602722
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ...	ORPHA:289176
Zygomycosis	Cellulitis, Brain abscess, Hepatitis, Fasciitis, Peritonitis, Pancreatitis, Splenic abscess, Neut...	ORPHA:73263
Craniofaciofrontodigital Syndrome	Osteopenia, Hypertrichosis, Large for gestational age, Finger joint hypermobility, Low anterior h...	ORPHA:363705
Coccidioidomycosis	Atypical scarring of skin, Granuloma, Abnormality of the spleen, Abnormality of the liver, Osteom...	ORPHA:228123
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism...	OMIM:614837
Glycerol Kinase Deficiency	Hypoglycemia, Pathologic fracture, Chronic pancreatitis, Hypertriglyceridemia, Osteoporosis, Smal...	OMIM:307030
Macs Syndrome	Alopecia, Sparse eyebrow, Umbilical hernia, Decreased body weight, Joint hypermobility, Osteoporo...	OMIM:613075
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra...	OMIM:300554
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Cholestasis, Hepatosplenomegaly, Cryptorchidism, Elevated circulating alani...	OMIM:614866
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Hyperbilirubinemia, Absent g...	OMIM:615710
Menkes Disease	Atypical scarring of skin, Chondrocalcinosis, Hypoglycemia, Umbilical hernia, Osteomyelitis, Tars...	ORPHA:565
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Abnormal circulating cholesterol concentration, Abnor...	ORPHA:289548
Mucopolysaccharidosis, Type Iva	Grayish enamel, Inguinal hernia, Joint hypermobility, Hepatomegaly, Osteoporosis	OMIM:253000
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased susceptibility to fractures, Hepatomegaly, Thrombocytopenia...	ORPHA:77261
Desbuquois Dysplasia 1	Obesity, Joint hypermobility, Osteoarthritis, Advanced ossification of carpal bones, Osteoporosis...	OMIM:251450
Cranio-Osteoarthropathy	Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis	ORPHA:1525
Refsum Disease, Classic	Cardiomegaly, Arrhythmia, Cardiomyopathy, Congestive heart failure	OMIM:266500
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Arthrogryposis multiplex cong...	OMIM:208085
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis...	OMIM:212140
8p23.1 deletion syndrome	Cryptorchidism, Hyperactivity	DECIPHER:39
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Elevated circulating hepatic transaminase concentration, Rickets, Small for gestation...	OMIM:613658
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteoporosis, Osteopenia, Increased susceptibility to fractures	OMIM:612286
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Joint stiffness, Splenomegaly, Joint hypermobility, Hepatomegaly, Reduce...	OMIM:620210
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept...	OMIM:620609
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia, Urinary hesitancy, Hyperactivity, Nocturia, Urinary incontinence, Ur...	OMIM:609727
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate...	OMIM:601847
Cushing Disease	Sparse scalp hair, Increased circulating cortisol level, Lymphopenia, Dorsocervical fat pad, Leuk...	ORPHA:96253
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Fine hair, Elbow flexion contracture, Inguinal hernia, Osteoporosis, Flexion contract...	OMIM:614438
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premature graying of hair, Lymphope...	OMIM:127550
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Sparse body hair, Breast hypoplasia, Eunuchoid habitus, Generalized joint hypermobili...	ORPHA:432
Mucopolysaccharidosis, Type Ivb	Joint stiffness, Grayish enamel, Inguinal hernia, Joint hypermobility, Hepatomegaly, Osteoporosis	OMIM:253010
Glycogen Storage Disease Vii	Cholelithiasis, Increased total bilirubin, Exercise-induced myoglobinuria, Gout, Hyperuricemia, E...	OMIM:232800
Spondyloepiphyseal Dysplasia Tarda	Hip osteoarthritis, Limitation of joint mobility, Failure to thrive, Osteoarthritis of the distal...	ORPHA:93284
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased circulating f...	OMIM:603553
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Precocious puberty, Broad-based gait, Joint hypermobility, Aggressive behavior, Hyperactivity	ORPHA:457260
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Familial Thyroid Dyshormonogenesis	Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin concentration, Lethargy, Delayed ...	ORPHA:95716
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Lysinuric Protein Intolerance	Hemophagocytosis, Fine hair, Failure to thrive, Leukopenia, Splenomegaly, Hepatomegaly, Pancreati...	OMIM:222700
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Type I diabetes mellitus, Hepatic failure, Elevated circulating hepati...	OMIM:557000
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Glycosuria, Osteomalacia, Recurrent fractures	OMIM:613388
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Failure to thrive, Type II diabetes mellitus, Increased body weight, Abdominal obesit...	ORPHA:398069
Perrault Syndrome 4	Osteoporosis, Obesity	OMIM:615300
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Inappropriate behavior, Nephrolithiasis, Aggressive behavior, Attention ...	OMIM:619827
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Decreased calvarial ossific...	OMIM:259420
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardi...	OMIM:300280
Juvenile Huntington Disease	Broad-based gait, Depression, Gait ataxia, Irritability, Hyperactivity, Ataxia, Bradykinesia, Pro...	ORPHA:248111
Premature Aging Syndrome, Penttinen Type	Keloids, Failure to thrive, Flexion contracture of finger, Joint contracture, Osteoporosis, Osteo...	OMIM:601812
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis, Aplastic anemia, Pancytopenia, Nail dystrophy, Sparse eyelashes, Thrombocytopen...	OMIM:224230
Post-Traumatic Pituitary Deficiency	Abnormality of secondary sexual hair, Osteopenia, Osteoporosis of vertebrae, Hypoglycemia	ORPHA:95619
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	ORPHA:766
Prader-Willi Syndrome	Osteopenia, Class III obesity, Failure to thrive in infancy, Hyperinsulinemia, Obesity, Type II d...	OMIM:176270
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Hepatomegaly, Mi...	OMIM:613673
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Osteopenia, Large for gestational age, Osteoporosis	OMIM:615398
Intrahepatic Cholestasis Of Pregnancy	Depression, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Cholecys...	ORPHA:69665
Thrombocytopenia 6	Osteoporosis, Myelofibrosis, Thrombocytopenia	OMIM:616937
Mulibrey Nanism	Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul...	ORPHA:186
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Sparse eyebrow, Aplastic anemia, Abnormal dental...	ORPHA:2909
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia	OMIM:605479
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia, Gait ataxia, Hypertriglyceridemia, Hepatic steatosis, Cirrh...	ORPHA:363400
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Cryptorchidism, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity...	ORPHA:228402
Congenital Myopathy 22A, Classic	Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contracture...	OMIM:620351
Estrogen Resistance	Osteopenia, Hyperinsulinemia, Glucose intolerance, Polycystic ovaries, Hypoplasia of the uterus, ...	OMIM:615363
Fanconi Renotubular Syndrome 3	Rickets, Glycosuria	OMIM:615605
Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hyperbilirubinemia, ...	ORPHA:39812
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Osteogenesis Imperfecta, Type Xxi	Osteoporosis, Recurrent fractures, Joint hypermobility	OMIM:619131
Congenital Disorder Of Glycosylation, Type Iiw	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Increased hepa...	OMIM:619525
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Failure to thrive, Obesity, Osteoporosis, Hypopigmentation of hair, Diabetes mellitus...	ORPHA:98754
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Iron deficiency anemia, Weight loss, St...	ORPHA:309031
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Dark...	ORPHA:521219
Geroderma Osteodysplasticum	Osteopenia, Abnormal hair morphology, Increased susceptibility to fractures, Camptodactyly, Osteo...	OMIM:231070
Xp21 Deletion Syndrome	Osteoporosis, Reduced bone mineral density, Hypertriglyceridemia, Joint hypermobility	ORPHA:261476
46,Xy Sex Reversal 3	Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ...	OMIM:612965
Rhyns Syndrome	Osteoporosis, Osteopenia	OMIM:602152
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly	OMIM:252920
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Cranial hyperostosis, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia, Sple...	OMIM:259720
19P13.3 Microduplication Syndrome	Osteoporosis	ORPHA:447980
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Abnormal cortical bone morphology, Recurrent fractures	ORPHA:1486
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Unilateral renal agenesis, Gonadal dysgenesis, Hypogonadism, Cryptorchidism, ...	ORPHA:3306
Cantú Syndrome	Umbilical hernia, Long eyelashes, Thick eyebrow, Curly eyelashes, Low anterior hairline, Low post...	ORPHA:1517
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Failure to thrive, Obesity, Osteoporosis, Hypopigmentation of hair, Diabetes mellitus...	ORPHA:98793
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Biventricular...	OMIM:261740
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Cirrhosi...	OMIM:301068
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2

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