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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
increased thigmotaxis	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	2.08×10^-06
abnormal behavior	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	2.08×10^-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
decreased locomotor activity	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	1.96×10^-06
abnormal uterus morphology	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	0.00
abnormal kidney morphology	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	0.00
hyperactivity	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	5.19×10^-05
decreased bone mineral content	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	1.68×10^-08
absent external male genitalia	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	6.18×10^-08
abnormal male genitalia morphology	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	6.18×10^-08
increased circulating bilirubin level	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	9.67×10^-06
decreased circulating triglyceride level	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	7.17×10^-07
hydrometra	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	0.00
decreased bone mineral density	Cnot3^{em1(IMPC)Rbrc}	HET	Early adult	2.80×10^-09

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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 (851 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	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Ethanolaminosis	Cardiomegaly	OMIM:227150
Extensor Tendons Of Finger Anomalies	Multiple lipomas, Limitation of joint mobility, Osteoporosis, Camptodactyly of finger	ORPHA:3294
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail...	OMIM:228600
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Glucose intolerance, Type I...	OMIM:610947
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Failure to thrive, Hypoglycemia, Hyperli...	ORPHA:369
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Anemia	ORPHA:100024
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Low anterior hairline, Hype...	OMIM:616033
Ramon Syndrome	Diabetes mellitus, Abnormal dental enamel morphology, Osteolysis, Failure to thrive, Generalized ...	ORPHA:3019
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis	OMIM:608805
Melorheostosis With Osteopoikilosis	Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Atrial Fibrillation, Familial, 6	Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R...	OMIM:612201
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Hereditary Sensory And Autonomic Neuropathy Type 2	Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology,...	ORPHA:970
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet...	OMIM:615381
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga...	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
Winchester Syndrome	Osteolysis involving tarsal bones, Generalized osteoporosis, Hirsutism, Carpal osteolysis	OMIM:277950
Juvenile Hyaline Fibromatosis	Abnormal hair morphology, Progressive flexion contractures, Osteolysis, Joint stiffness	ORPHA:2028
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:614727
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged n...	OMIM:619256
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, O...	ORPHA:79301
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Alopecia, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Increased body weig...	OMIM:615830
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Paget Disease Of Bone 4	Osteolysis	OMIM:606263
Xanthoma Disseminatum	Osteolysis	ORPHA:158003
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Rotor Syndrome	Bilirubinuria, Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Porphyrinuria, Hyp...	ORPHA:3111
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal adipose tissue morph...	ORPHA:93160
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O...	ORPHA:98850
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Flynn-Aird Syndrome	Alopecia, Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density w...	OMIM:136300
Osteoporosis	Osteoporosis	OMIM:166710
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Osteoporosis, Abno...	ORPHA:79230
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis,...	ORPHA:371428
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n...	ORPHA:79234
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Osteoporosis	ORPHA:2787
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ...	ORPHA:73
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615271
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Metacarpal osteolysi...	ORPHA:2774
Hutchinson-Gilford Progeria Syndrome	Alopecia, Absence of subcutaneous fat, Osteolysis, Generalized osteoporosis	OMIM:176670
Tenosynovial Giant Cell Tumor	Joint stiffness, Limitation of joint mobility, Osteolysis, Localized osteoporosis, Chondrocalcinosis	ORPHA:66627
Classic Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Osteolysis, Weight loss	ORPHA:391
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Ataxia, Cryptorchidism, Hypogonadism, Micropenis, Neonatal hyperbilirubinemia	ORPHA:3363
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Long eyelashes, Osteoporosis, Camptodactyly of finger, Hypoglycemia	ORPHA:48431
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Inguinal hernia, Osteoporosis	ORPHA:2958
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Osteoporosis, Macrovesicular hepatic steatosis	OMIM:618234
Rosaï-Dorfman Disease	Osteolysis, Anemia	ORPHA:158014
Felty Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Limitation of joint mobility, Neutropenia, Osteolys...	ORPHA:47612
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef...	OMIM:613876
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Abnormal hair morphology, Insulin resistance, Hyperlipidemia, Osteolysis, Generalized l...	ORPHA:90154
Autosomal Recessive Distal Osteolysis Syndrome	Osteolysis	ORPHA:2776
Prieto Syndrome	Inguinal hernia, Osteoporosis	OMIM:309610
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Analbuminemia	Hypercholesterolemia, Lipodystrophy, Osteoporosis	OMIM:616000
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Osteoporosis, Umbilical hernia	ORPHA:87876
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperch...	ORPHA:77296
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Keratoderma Hereditarium Mutilans	Alopecia, Osteolysis	ORPHA:494
Isolated Glycerol Kinase Deficiency	Osteoporosis	ORPHA:408
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Flexion contracture, Hyperglycemia, Hepatomegaly, Alopecia, Lipodystrophy, Insulin-re...	OMIM:248370
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Infantile Myofibromatosis	Neoplasm of the pancreas, Abnormal hair morphology, Limitation of joint mobility, Bone cyst, Oste...	ORPHA:2591
H Syndrome	Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Lipodystrophy, Recurrent fractures, Hyp...	ORPHA:168569
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula...	OMIM:605814
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Osteomyelitis, Failure to thrive in infancy, Neutrophilia, Abscess, Spl...	OMIM:612852
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:79235
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi...	ORPHA:139507
Frank-Ter Haar Syndrome	Inguinal hernia, Camptodactyly of finger, Joint stiffness, Osteolysis, Umbilical hernia	ORPHA:137834
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Osteoporosis, Rickets, Type I diabetes mellitus, Failure to thrive	OMIM:560000
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Absent eyelashes, Osteoporosis, Nail dystrophy, Sparse hair	OMIM:618625
Osteosarcoma	Pathologic fracture, Osteolysis, Weight loss	ORPHA:668
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Insulin resistance, Flexion contracture, Elbow flex...	OMIM:214150
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Insulin resistance, Flexion contracture,...	ORPHA:90153
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality	OMIM:237500
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Small for gestational age, Generalized lipodystrophy, Failure to thrive, Slender build	ORPHA:50811
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri...	OMIM:608612
Proteus Syndrome	Splenomegaly, Facial hyperostosis, Multiple lipomas, Calvarial hyperostosis, Lipoma, Mandibular h...	OMIM:176920
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Osteoporosis, Albinism	ORPHA:2786
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Conjugated hyperbi...	ORPHA:79303
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Osteoporosis, Obesity	OMIM:610628
Ruijs-Aalfs Syndrome	Lipodystrophy, Hepatocellular carcinoma, Elbow flexion contracture, Osteoporosis, Premature grayi...	OMIM:616200
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hypertriglyceridemia, Lipodystrophy, Spl...	OMIM:613327
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Lipoatrophy, Sparse eyelashes, Limited elbow movement, Joint stiffne...	OMIM:614008
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Ollier Disease	Osteolysis, Anemia, Joint stiffness	ORPHA:296
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Splenomegaly, Osteoporo...	OMIM:235200
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Small for gestational age, Reduced bone mineral density, Delayed ossification of...	OMIM:618392
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Eleva...	ORPHA:2088
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Abnormal cortical bone morphology, Craniofacial hyperostosis, Anemia	ORPHA:1802
Warburg Micro Syndrome 1	Osteoporosis, Facial hypertrichosis, Failure to thrive, Joint hypermobility, Hypertrichosis	OMIM:600118
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction...	OMIM:614096
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Abnormal erythro...	ORPHA:264580
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Propionic Acidemia	Hepatomegaly, Pancytopenia, Hypoglycemia, Thrombocytopenia, Osteoporosis, Neutropenia, Failure to...	OMIM:606054
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Hall-Riggs Syndrome	Enamel hypoplasia, Failure to thrive, Osteoporosis	OMIM:234250
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Hypoglycemia, Insulin resistance, Osteoporosis, Low anterior hairline,...	ORPHA:73272
Malaria	Acute kidney injury, Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein ...	ORPHA:673
Familial Hyperprolactinemia	Osteopenia, Osteoporosis	ORPHA:397685
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ...	OMIM:115197
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ketotic hypoglycemia, Splenome...	ORPHA:79240
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Hypergonadotropic Hypogonadism-Cataract Syndrome	Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2410
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Osteolysis, Increased susceptibility to fractures, Calvarial hyperostosis, Pathologic fracture, H...	ORPHA:52430
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormal erythrocyte enzyme level, Jau...	ORPHA:79239
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Splenomega...	ORPHA:77259
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppre...	ORPHA:189427
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability, Hyp...	OMIM:605899
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Increa...	ORPHA:2924
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Craniofacial osteosclerosis, Osteolysis, Weight loss, Hyperostosis, Arthritis, Anemia	ORPHA:324964
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Acth-Independent Macronodular Adrenal Hyperplasia 2	Osteoporosis, Increased body weight, Abdominal obesity, Increased circulating cortisol level, Hyp...	OMIM:615954
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Osteoporosis, Steatorrhea, Failure to thrive, Hypocholesterolemia	OMIM:266510
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Premature Aging Syndrome, Okamoto Type	Abnormal hair morphology, Diabetes mellitus, Osteoporosis	OMIM:601811
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc...	ORPHA:158057
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia, Jaundice	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Jaundice, Unconjugated hyperbilirubinemia	OMIM:606785
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Osteoporosis, Dentinogenesis imperfecta	ORPHA:71267
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia, Jaundice	OMIM:237450
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Osteoporosis, Obesity	OMIM:612463
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia	OMIM:129850
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Increased proportion of CD25+ mast cells, Mastocytosis,...	ORPHA:98848
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Joint stiffness, Spleno...	ORPHA:465508
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal...	ORPHA:232
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Abnormal hair morphology, Fractures of the long bones, Osteoporosis, Nail dystrophy	ORPHA:319195
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Joint stiffness, Abnor...	ORPHA:1979
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxy...	OMIM:239500
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Osteoarthritis, Osteolysis, Dystrophic fingernails, Dystrophic toenail	ORPHA:1657
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Crigler-Najjar Syndrome, Type I	Jaundice, Unconjugated hyperbilirubinemia	OMIM:218800
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demi...	OMIM:600785
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Diabetes mellitus, Osteomalacia, Fibrous dysplasia of th...	ORPHA:249
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentr...	OMIM:277700
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Failure to thrive	ORPHA:172
Desmoid Tumor	Limitation of joint mobility, Osteolysis	ORPHA:873
Congenital Myopathy 8	Congestive heart failure, Cardiomegaly	OMIM:618654
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased total bilir...	ORPHA:890
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Cellulit...	ORPHA:1310
Werner Syndrome	Sparse scalp hair, Increased bone mineral density, Lipoatrophy, Lipodystrophy, Joint stiffness, A...	ORPHA:902
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Craniosynostosis, Osteoporosis, Joint hyperflexibility, Sparse...	ORPHA:1515
Aromatase Deficiency	Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Insulin resistance, Osteoporosis,...	ORPHA:91
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Renal cyst, Increased total bilirubin	OMIM:174050
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Alopecia, Osteoporosis, Rickets, Weight loss, I...	OMIM:212750
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:237800
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep...	OMIM:619685
Pachydermoperiostosis	Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Abnormal hair pattern, Splenomegaly, Limitat...	ORPHA:2796
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615267
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Hi...	ORPHA:1901
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Brittle hair, Limitation of joint mobility, Osteoporosis, Failure to thrive, Hep...	OMIM:236200
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal...	ORPHA:1414
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Porphyria, Congenital Erythropoietic	Osteopenia, Hepatomegaly, Hemolytic anemia, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Los...	OMIM:263700
Fanconi-Bickel Syndrome	Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Osteomalacia, Elevated circulating a...	OMIM:227810
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Renal tubular dysfunction, Hyperbilirubinemia, Hepatic failure, Ab...	OMIM:614886
Ck Syndrome	Abnormal cortical bone morphology, Slender build, Joint hypermobility	OMIM:300831
Maffucci Syndrome	Recurrent fractures, Osteolysis	ORPHA:163634
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru...	OMIM:211600
Bruck Syndrome 1	Joint laxity, Hip contracture, Ankle flexion contracture, Osteoporosis, Elbow flexion contracture...	OMIM:259450
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Cigarette-paper scars, Osteolysis, Nail dys...	ORPHA:678
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Osteoporosis, Generalized hirsutism, Reduced...	OMIM:614856
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Osteopenia, Multiple joint contractures,...	ORPHA:2959
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Dentinogenesis imperf...	OMIM:613849
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Abnormal cortical bone morphology, Dentinogenesis imperfecta, Limitation of ...	ORPHA:166277
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia	OMIM:143500
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Urban-Rogers-Meyer Syndrome	Recurrent fractures, Camptodactyly of finger, Osteoporosis, Obesity, Flexion contracture of toe	ORPHA:3409
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Osteoporo...	OMIM:610475
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri...	OMIM:613070
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Osteoporosis, Camptodactyly	OMIM:616006
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation...	OMIM:616026
Perrault Syndrome 1	Osteoporosis	OMIM:233400
Dominant Beta-Thalassemia	Diabetes mellitus, Failure to thrive in infancy, Extramedullary hematopoiesis, Anisocytosis, Decr...	ORPHA:231226
Metatropic Dysplasia	Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon...	ORPHA:2635
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Nephrotic syndrome	OMIM:269920
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ...	ORPHA:66624
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Osteoporosis, Gout, Xa...	OMIM:232200
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, De...	OMIM:616299
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Estrogen Resistance Syndrome	Osteopenia, Abnormality of the pubic hair, Delayed epiphyseal ossification, Hyperinsulinemia, Ost...	ORPHA:785
Juvenile Paget Disease	Cranial hyperostosis, Osteoporosis, Recurrent fractures, Coarse metaphyseal trabecularization	ORPHA:2801
Hijazi-Reis Syndrome	Gait disturbance, Abnormal repetitive mannerisms, Hyperbilirubinemia	OMIM:301094
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating...	OMIM:616860
Chromomycosis	Atypical scarring of skin, Ankylosis, Osteolysis	ORPHA:182
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional lability, Neu...	OMIM:234500
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower...	ORPHA:882
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Failure to...	OMIM:600081
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Osteoporosis, Joint laxity, Increased susceptibility to fractures	ORPHA:2788
Hypercholanemia, Familial 1	Failure to thrive, Rickets, Steatorrhea	OMIM:607748
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Osteoporosis, Abnormality of the liver, Increased mean corpuscul...	ORPHA:2169
Cantu Syndrome	Curly eyelashes, Large for gestational age, Osteoporosis, Long eyelashes, Congenital, generalized...	OMIM:239850
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Bruck Syndrome	Arthrogryposis multiplex congenita, Osteoporosis, Recurrent fractures, Joint stiffness	ORPHA:2771
Ehlers-Danlos Syndrome, Classic-Like, 2	Ventral hernia, Osteopenia, Inguinal hernia, Osteoarthritis, Generalized joint laxity, Osteoporos...	OMIM:618000
Beta-Thalassemia Major	Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Extramedullary hematopoiesis, Anem...	ORPHA:231214
Pyle Disease	Limited elbow extension, Thin bony cortex, Reduced bone mineral density	OMIM:265900
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Premature graying of hair, Leukopenia, White foreloc...	OMIM:613989
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Small for gestational age, Sparse facial hair, Sparse axillary hair, Congenital gener...	OMIM:608154
Bachmann-Bupp Syndrome	Hypoglycemia, Aggressive behavior, Cryptorchidism, Hyperbilirubinemia, Attention deficit hyperact...	OMIM:619075
Mucolipidosis Type Iii	Craniofacial hyperostosis, Inguinal hernia, Joint stiffness, Reduced bone mineral density	ORPHA:577
Infantile Systemic Hyalinosis	Osteopenia, Osteomalacia, Camptodactyly of finger, Recurrent fractures, Joint stiffness, Osteopor...	ORPHA:2176
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia	OMIM:615924
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp...	OMIM:232220
Hajdu-Cheney Syndrome	Osteopenia, Hepatomegaly, Inguinal hernia, Failure to thrive, Recurrent fractures, Splenomegaly, ...	ORPHA:955
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac...	OMIM:277900
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sparse hair, Ankylosis, Alopecia, Osteolysis	ORPHA:659
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Co...	OMIM:617156
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa...	ORPHA:2457
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Hy...	OMIM:235555
Mixed Connective Tissue Disease	Hepatomegaly, Hemolytic anemia, Alopecia, Joint stiffness, Splenomegaly, Osteolysis, Arthritis, L...	ORPHA:809
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Osteoporosis, Obesity, Glucose intolerance, Abdominal obesity, Hirsutism	OMIM:219090
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sclerosis of skul...	OMIM:602080
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb...	OMIM:613404
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Flexion contracture, Osteolysis	ORPHA:220393
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Cholestasis, Hypoglycemic seizures, Hyperbilirubinemia, Pol...	OMIM:609734
Nasu-Hakola Disease	Bone cyst, Limitation of joint mobility, Acute leukemia, Reduced bone mineral density, Abnormal a...	ORPHA:2770
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insuli...	ORPHA:1667
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein...	OMIM:251880
Idiopathic Congenital Hypothyroidism	Lethargy, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Prolonge...	ORPHA:95717
Progressive Pseudorheumatoid Dysplasia	Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteoporosis, Joint contracture of the ...	OMIM:208230
Senior-Boichis Syndrome	Elevated hepatic transaminase, Reduced renal corticomedullary differentiation, Portal hypertensio...	ORPHA:84081
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Knee flexion contractur...	OMIM:608836
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Morm Syndrome	Hyperactivity, Micropenis, Aggressive behavior	ORPHA:75858
Shashi-Pena Syndrome	Hypoglycemia, Highly arched eyebrow, Synophrys, Osteoporosis, Long eyelashes, Cervical C2/C3 vert...	OMIM:617190
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Bone cyst, Osteoporosis, Knee osteoarthritis, Camptodactyly of toe, Oste...	ORPHA:2848
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Alopecia u...	OMIM:277440
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Osteoporosis	ORPHA:529665
Short Stature, Dauber-Argente Type	Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density	OMIM:619489
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph...	OMIM:241530
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Elevated urinary phenylpyruvic acid level, Increas...	OMIM:261600
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Osteoporosis, Truncal obesity, Increased circulating cortisol level, Primary hypercor...	OMIM:219080
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Osteolysis, Synovitis, Enthesiti...	ORPHA:793
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Occipital Horn Syndrome	Osteopenia, Inguinal hernia, Femoral hernia, Scarring, Osteomalacia, Hiatus hernia, Thick hair, J...	ORPHA:198
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Insulin-resistant diabetes mellitus, Osteoporosis, Ivory epiphyses of the phalanges...	OMIM:226980
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Bradykinesia, Steppage gait, Incr...	OMIM:613280
Ddost-Cdg	Elevated hepatic transaminase, Osteopenia, Lipodystrophy, Failure to thrive, Hepatic steatosis	ORPHA:300536
Primary Sclerosing Cholangitis	Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of ...	ORPHA:171
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:614880
Ovarian Dysgenesis 8	Eunuchoid habitus, Osteoporosis	OMIM:618187
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hypoglycemia, Chronic neutrope...	ORPHA:79259
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Enamel hyp...	OMIM:264700
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone mineral densi...	ORPHA:79474
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume...	OMIM:611590
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Osteoporosis, Synostosis of carpal bones	ORPHA:93351
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Conj...	ORPHA:53035
Refractory Celiac Disease	Elevated hepatic transaminase, Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased...	ORPHA:398063
Pontocerebellar Hypoplasia, Type 2E	Failure to thrive, Flexion contracture, Osteoporosis	OMIM:615851
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Recurrent fractures, Joint hypermobility, Long eyelashes, Umbilical hernia, General...	OMIM:617952
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, Dentinogenesis im...	OMIM:619795
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal urinary color, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno...	ORPHA:234
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Geroderma Osteodysplastica	Recurrent fractures, Osteoporosis, Joint hyperflexibility, Hernia, Abnormal bone ossification	ORPHA:2078
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia...	OMIM:267700
Pseudohypoparathyroidism, Type Ia	Enamel hypoplasia, Subcutaneous ossification, Osteoporosis, Obesity	OMIM:103580
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Inguinal hernia, Shoulder flexion contracture, Osteoporosis, Long eyelashes in i...	OMIM:255800
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Osteoporosis	OMIM:601979
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Osteopo...	OMIM:239000
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Retroperitoneal fibrosis, Osteolysis, Weight loss,...	ORPHA:35687
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Lipoatrophy, Reduced bone mineral density, Premature graying of hair, Low...	ORPHA:2617
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Chronic pancreatitis, Osteoporosis...	OMIM:307030
Mycetoma	Osteomyelitis, Bone cyst, Osteoporosis, Painless fractures due to injury, Pathologic fracture, Ab...	ORPHA:2583
Cystinosis	Type I diabetes mellitus, Failure to thrive, Rickets, Portal hypertension	ORPHA:213
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ...	ORPHA:464321
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Conjug...	OMIM:617093
Distal Xq28 Microduplication Syndrome	Impulsivity, Aggressive behavior, Depression, Self-biting, Stereotypical body rocking, Tip-toe ga...	ORPHA:293939
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Alopecia, Lipodystrophy, Abnormal eyelash morphology, Bone cyst, Osteo...	ORPHA:2396
Menkes Disease	Joint laxity, Alopecia, Brittle hair, Osteoporosis, Sparse hair	OMIM:309400
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Congenital diaphragmatic hernia, Craniosynostosis, Abnormality of th...	ORPHA:2409
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Recurrent fractures	OMIM:126550
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp...	ORPHA:289157
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Osteoporosis	OMIM:614838
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Osteoporo...	OMIM:610489
Axial Osteomalacia	Increased bone mineral density, Polycystic liver disease, Osteomalacia	OMIM:109130
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Increased circulating ferriti...	OMIM:618892
Spondylo-Ocular Syndrome	Joint hyperflexibility, Osteoporosis, Abnormal eyebrow morphology, Low posterior hairline	ORPHA:85194
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Facial hypertrichosis, Scarring, Splenomegaly, Scarring alopecia of...	ORPHA:95159
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu...	OMIM:259600
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,...	ORPHA:247585
Odontochondrodysplasia 1	Delayed ossification of carpal bones, Osteoporosis, Dentinogenesis imperfecta, Joint hypermobility	OMIM:184260
Grant Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Pyruvate Carboxylase Deficiency	Anorexia, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Hepatomegaly, Ataxia, Elevated p...	ORPHA:3008
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Gaucher Disease	Osteopenia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent ...	ORPHA:355
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Recurrent fractures, Osteoporosis, Obesity, Reduced bone mineral density, Breast hypoplasia	ORPHA:2235
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed proximal femoral epiphyseal ossification, Depression, Attention deficit hyperactivity dis...	ORPHA:90674
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Osteoporosis, Obesity	OMIM:612462
Idiopathic Juvenile Osteoporosis	Osteoporosis, Recurrent fractures	ORPHA:85193
Farber Disease	Elevated hepatic transaminase, Failure to thrive, Intrahepatic cholestasis with episodic jaundice...	ORPHA:333
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Joint stiffness, Highly arched eyebrow,...	ORPHA:309282
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:617049
Familial Isolated Hyperparathyroidism	Osteopenia, Generalized osteoporosis, Chondrocalcinosis	ORPHA:99879
Immunodeficiency 12	Osteoporosis, Abnormal lymphocyte count, Decreased body weight	OMIM:615468
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Facial hypertrichosis, Scarring, Anisocytosis, Inc...	ORPHA:79277
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Fractures of the long bones, Thrombocytopenia, Osteolysis, Hepato...	ORPHA:464329
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo...	OMIM:618652
Dent Disease 1	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Amish Lethal Microcephaly	Hepatomegaly, Decreased skull ossification, Osteoporosis, Limitation of joint mobility	ORPHA:99742
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Portal hyperte...	OMIM:619487
Macs Syndrome	Joint laxity, Alopecia, Sparse eyebrow, Osteoporosis, Decreased body weight, Sparse hair, Umbilic...	OMIM:613075
Familial Dysautonomia	Abnormal peritoneum morphology, Acrocyanosis, Recurrent fractures, Osteolysis	ORPHA:1764
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, C...	OMIM:612714
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Elevat...	OMIM:137920
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Osteoporosis, Obesity, Abdominal obesity, Type II diabetes ...	ORPHA:398079
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase...	ORPHA:3093
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Alopecia of scalp, Localized osteoporosis	ORPHA:199354
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Irritabili...	ORPHA:348
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Broad-based gait, Hepatomegaly, Ataxia, Elev...	ORPHA:14
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Thick hair, Large for gestational age, Osteoporosis, Low anterior hairl...	ORPHA:363705
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly	OMIM:614702
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Incontinentia Pigmenti	Alopecia, Camptodactyly of finger, Abnormal dental enamel morphology, Eosinophilia, Supernumerary...	ORPHA:464
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Rickets	OMIM:602722
Hypophosphatemic Rickets, X-Linked Recessive	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endoc...	OMIM:212140
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Coccidioidomycosis	Osteomyelitis, Abscess, Eosinophilia, Abnormality of the spleen, Peritonitis, Osteolysis, Atypica...	ORPHA:228123
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:1525
Gaucher Disease Type 3	Hepatomegaly, Increased bone mineral density, Pancytopenia, Splenomegaly, Thrombocytopenia, Osteo...	ORPHA:77261
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirub...	OMIM:615710
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Alopecia, Diabetes mellitus, Abnormal eyebrow morphology,...	ORPHA:1775
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melan...	OMIM:208085
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Eunuchoid habitus, Generalized joint laxity, Osteoporosis, Breast hypoplasia, Camptod...	ORPHA:432
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Menkes Disease	Inguinal hernia, Osteomyelitis, Hypoglycemia, Recurrent fractures, Tarsal synostosis, Hypopigment...	ORPHA:565
Desbuquois Dysplasia 1	Joint laxity, Osteoarthritis, Osteoporosis, Advanced ossification of carpal bones, Advanced tarsa...	OMIM:251450
Refsum Disease, Classic	Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly	OMIM:266500
Cushing Disease	Sparse scalp hair, Diabetes mellitus, Dorsocervical fat pad, Impaired glucose tolerance, Paradoxi...	ORPHA:96253
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Joint stiffness, Splenomegaly, Reduced bone mineral density, Leukopenia, Lymphopeni...	OMIM:620210
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Osteopenia, Inguinal hernia, Joint laxity, Small for gestational a...	OMIM:613658
Glycogen Storage Disease Vii	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Gou...	OMIM:232800
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Osteoporosis, Fine h...	OMIM:614438
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Joint laxity, Hyperactivity, Broad-based gait, Aggressive behavior, Precocious puberty	ORPHA:457260
Familial Thyroid Dyshormonogenesis	Delayed proximal femoral epiphyseal ossification, Prolonged neonatal jaundice, Lethargy, Abnormal...	ORPHA:95716
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Renal salt wasting, Reduced bone mineral density, Sex rever...	ORPHA:168558
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia,...	OMIM:614837
Spastic Paraplegia 29, Autosomal Dominant	Hyperactivity, Urinary incontinence, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubine...	OMIM:609727
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Renal cyst, Lethargy, Intrahepatic biliary dysgenesis, Hepatomegal...	OMIM:614866
Zygomycosis	Brain abscess, Fasciitis, Diabetes mellitus, Peritonitis, Neutropenia, Hepatitis, Osteolysis, Cel...	ORPHA:73263
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Bradykinesia, Self...	OMIM:619827
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Anorexia, Hypercalciuria, Macro...	OMIM:557000
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Ataxia, Increase...	OMIM:603553
Lysinuric Protein Intolerance	Hepatomegaly, Recurrent fractures, Splenomegaly, Thrombocytopenia, Osteoporosis, Fine hair, Trunc...	OMIM:222700
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Abnormal dental ename...	ORPHA:2909
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Premature graying of...	OMIM:127550
Perrault Syndrome 4	Osteoporosis, Obesity	OMIM:615300
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Renal salt wasting, Reduced bone mineral density, Sex rever...	ORPHA:289548
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Flexion contracture, Osteoporosis, Increased body weight, A...	ORPHA:398069
Fanconi Renotubular Syndrome 3	Rickets, Glycosuria	OMIM:615605
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Glycosuria	OMIM:613388
Mucopolysaccharidosis, Type Iva	Joint laxity, Hepatomegaly, Inguinal hernia, Grayish enamel, Osteoporosis	OMIM:253000
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro...	ORPHA:248111
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy	OMIM:252920
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Mucopolysaccharidosis, Type Ivb	Joint laxity, Hepatomegaly, Inguinal hernia, Grayish enamel, Joint stiffness, Osteoporosis	OMIM:253010
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Wide anterior ...	OMIM:259420
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Insulin resistance, Hyperinsulinemia, ...	ORPHA:363400
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Osteoporosis, Hepatic fibrosi...	OMIM:224230
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Hypospadias, Splenomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinemia, Hyp...	OMIM:613673
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Graft Versus Host Disease	Elevated hepatic transaminase, Dupuytren contracture, Acute hepatitis, Limited elbow movement, Ja...	ORPHA:39812
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr...	ORPHA:766
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Osteoporosis, Lambdoidal craniosynostosis, Large for gestational age	OMIM:615398
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat...	OMIM:300280
Post-Traumatic Pituitary Deficiency	Osteopenia, Osteoporosis of vertebrae, Hypoglycemia, Abnormality of secondary sexual hair	ORPHA:95619
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Lipoatrophy, Recurrent fractures, Osteoporosis, Osteolytic defects of the dist...	OMIM:601812
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Estrogen Resistance	Osteopenia, Impaired glucose tolerance, Hyperinsulinemia, Polycystic ovaries, Hypoplasia of the u...	OMIM:615363
Spondyloepiphyseal Dysplasia Tarda	Abnormally ossified vertebrae, Increased bone mineral density, Osteoarthritis of the distal inter...	ORPHA:93284
Xp21 Deletion Syndrome	Joint laxity, Hypertriglyceridemia, Osteoporosis, Reduced bone mineral density	ORPHA:261476
Mirizzi Syndrome	Elevated hepatic transaminase, Dark urine, Anorexia, Pancreatitis, Jaundice, Cholesterol gallston...	ORPHA:521219
Osteogenesis Imperfecta, Type Xxi	Osteoporosis, Recurrent fractures, Joint hypermobility	OMIM:619131
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Rickets, Osteoporosis, Weight loss, Iron deficiency anemia, Steatorrhea, Exocrine p...	ORPHA:309031
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Increased bone mineral density, Splenomegaly, Cranial hyperostosis, Hepatosplenomeg...	OMIM:259720
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Rhyns Syndrome	Osteopenia, Osteoporosis	OMIM:602152
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Osteoporosis,...	ORPHA:98754
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Congenital Myopathy 22A, Classic	Hip contracture, Achilles tendon contracture, Synophrys, Osteoporosis, Congenital finger flexion ...	OMIM:620351
Cantú Syndrome	Curly eyelashes, Osteoporosis, Low anterior hairline, Low posterior hairline, Long eyelashes, Umb...	ORPHA:1517
19P13.3 Microduplication Syndrome	Osteoporosis	ORPHA:447980
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility	ORPHA:1486
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin...	OMIM:619525
2Q23.1 Microdeletion Syndrome	Hyperactivity, Hypoplasia of penis, Ataxia, Abnormal repetitive mannerisms, Cryptorchidism, Self-...	ORPHA:228402
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Osteoporosis, Bili...	ORPHA:186
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased...	OMIM:231070
Free Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Failure to thrive in infancy, Reduced bone mineral density	ORPHA:834
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Osteoporosis, Hors...	OMIM:607330
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Osteoporosis,...	ORPHA:98793
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, At...	ORPHA:30391
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Depression, Cholecystitis, ...	ORPHA:69665
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Osteoporosis,...	ORPHA:177904
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Small for gestational age, Osteoporosis,...	ORPHA:177901
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Unilateral renal agenesis, Aggressive behavior, Precocious puberty, Cryptorchidism...	ORPHA:3306
Brittle Cornea Syndrome	Osteoporosis, Abnormality of hair pigmentation, Corneal scarring, Increased susceptibility to fra...	ORPHA:90354
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of hair, Failure to thrive in infancy, Osteoporosis, Obesity, Hyperi...	OMIM:176270
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Cryptococcosis	Lymphoid leukemia, Osteomyelitis, Peritonitis, Osteolysis, Cirrhosis	ORPHA:1546
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Abnormal dental ename...	ORPHA:221008
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteoporosis, Osteolytic defects of the phalanges of th...	OMIM:259100
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Abnormal dental ename...	ORPHA:221016
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Inguinal hernia, Widened atrophic scar, Distal joint laxity, Generalized joint laxity...	ORPHA:1900
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglyc...	OMIM:229600
8p23.1 deletion syndrome	Cryptorchidism, Hyperactivity	DECIPHER:39
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Recurrent fractures, Osteoporosis, Reduced bone mineral density, Dentinogenesis imp...	OMIM:616507
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Osteoporosis, Increased susceptibility t...	ORPHA:739
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periportal fibrosis, Elevated hepatic tr...	OMIM:619484
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Tics, Compulsive behaviors, Micropenis, Abnormal repetitive mannerisms, Hepatic st...	OMIM:619475
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Thick eyebrow, Short nail, Synophrys, Osteoporosis, Fo...	OMIM:102500
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Adrenomyodystrophy	Failure to thrive, Hepatic steatosis, Reduced bone mineral density	ORPHA:977
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Diabetes mellitus, Osteoporosis, Glucose intolerance, Abnormality ...	ORPHA:254892
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocytopenia, Hypersplenism, Splen...	ORPHA:77293
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Failure to thrive, Thin bony...	OMIM:230600
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Alopecia, Aplastic anemia, Osteoporosis, Fine hair, Premature graying of hair, Leuk...	OMIM:613990
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:614887
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia	OMIM:612716
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Failure to thrive, Hypercholesterolemia,...	ORPHA:470
Melnick-Needles Syndrome	Omphalocele, Craniofacial hyperostosis, Osteolytic defects of the phalanges of the hand, Joint hy...	ORPHA:2484
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia, Glycosuria	OMIM:134600
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency, Ataxia, Hyperbilirubinemia	ORPHA:713
Chikungunya	Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal...	ORPHA:324625
46,Xy Ovotesticular Difference Of Sex Development	Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ...	ORPHA:325345
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Sparse scalp hair, Recurrent fractures, Joint stiffn...	ORPHA:394
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis	OMIM:235700
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Neuraminidase Deficiency	Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly	OMIM:256550
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Insulinoma, Osteolysis, Reduced bone mineral density, Weight loss, Mult...	ORPHA:652
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hypoglycemia, Neutropenia, Joint contracture, Failure to thrive, Hirsutism	OMIM:618005
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures, Glycosuria	OMIM:268315
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Abnormal trabecular bone morphology, Splenomegaly, Osteopetrosis, Anemia	OMIM:612301
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Abnormal eyelash morphology, Abnormal hair morphology, Flexion contract...	ORPHA:2671
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Progressive Pseudorheumatoid Arthropathy Of Childhood	Limitation of joint mobility, Abnormality of hand joint mobility, Camptodactyly, Joint contractur...	ORPHA:1159
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog...	ORPHA:2126
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Inguinal hernia, Thick eyebrow, Recurrent fractures, Congenital diaphragmatic hernia,...	OMIM:245600
Cleidocranial Dysplasia	Recurrent fractures, Abnormal dental enamel morphology, Osteoporosis, Decreased skull ossificatio...	ORPHA:1452
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Hypospadias, Precocious puberty in females, ...	ORPHA:90793
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Thrombocytopenia, Premature graying of hair, Nail dystrophy, Typ...	OMIM:620365
Hereditary Spherocytosis	Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Gout, Hyperbilirubinemia, Cholelithiasis	ORPHA:822
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Osteoporosi...	OMIM:300998
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left ventricular ejection fraction, Hyp...	OMIM:201475
Dent Disease	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	ORPHA:1652
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Advanced ossification of carpal bones	OMIM:614613
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Small for gestational age, Abnormal ...	OMIM:133540
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Hypophosphatemic rickets	OMIM:307800
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy	OMIM:617713
Weismann-Netter Syndrome	Abnormal cortical bone morphology, Anemia	ORPHA:3344
Functioning Gonadotropic Adenoma	Osteopenia, Osteoporosis, Abnormality of secondary sexual hair	ORPHA:91348
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas...	OMIM:266810
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Tooth abscess, Rickets, Osteomalacia	ORPHA:89937
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Generalized bone demineralization, Small for gestational age, Macronodular cirrhosis, Abnormal T ...	OMIM:215250
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Thrombocytopenia, Osteoporosis, Increased susceptibility to fractures, Premature gray...	OMIM:612199
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Cyanosis, Osteoporosis	ORPHA:2326
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He...	ORPHA:308552
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Synophrys, Flexion contracture, Bone cyst, Osteolysis, Anemia	ORPHA:3042
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density	ORPHA:157215
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic...	OMIM:203700
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Cystic Fibrosis	Elevated hepatic transaminase, Osteopenia, Osteoporosis, Abnormality of the liver, Cirrhosis, Ste...	ORPHA:586
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera...	ORPHA:85435
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly	ORPHA:99931
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hyperbilirubinemia, Cholelithia...	OMIM:266200
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Limited elbow movement, Osteoporosis, Reduced bone mineral density...	ORPHA:94068
Mccune-Albright Syndrome	Pancytopenia, Osteomalacia, Recurrent fractures, Primary hypercortisolism, Fibrous dysplasia of t...	ORPHA:562
Liver Disease, Severe Congenital	Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic...	OMIM:619991
Hypocalciuric Hypercalcemia, Familial, Type Iii	Multiple lipomas, Osteomalacia, Pancreatitis, Chondrocalcinosis	OMIM:600740
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice	ORPHA:95715
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Flexion contracture, Osteoporosis, Ca...	ORPHA:86309
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Cerebrotendinous Xanthomatosis	Cholelithiasis, Osteoporosis, Xanthelasma	OMIM:213700
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Cardiofaciocutaneous Syndrome 3	Curly hair, Failure to thrive, Reduced bone mineral density	OMIM:615279
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis...	ORPHA:391487
Glycogen Storage Disease Xii	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate...	OMIM:611881
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Osteoporosis, Weight loss, Lipoma, Pancreatitis, Chondrocalcinosis	ORPHA:143
Spherocytosis, Type 1	Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia	OMIM:182900
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Hyperactivity, Impulsivity, Joint hypermobility	OMIM:300143
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Small for gestational age, Sparse eyelashes, Absent ...	OMIM:268400
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Curly hair, Increased bone mineral density, Wide anterior fontanel, Thin bony cortex	ORPHA:85184
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Recurrent fractures, Sparse eyebrow, Synophrys, Osteopor...	OMIM:309583
Relapsing Fever	Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E...	ORPHA:91547
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex	OMIM:619638
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia,...	ORPHA:542323
Schwartz-Jampel Syndrome	Hip contracture, Inguinal hernia, Increased bone mineral density, Abnormally ossified vertebrae, ...	ORPHA:800
Cranioectodermal Dysplasia 1	Joint laxity, Hepatomegaly, Inguinal hernia, Slow-growing hair, Short nail, Malformation of the h...	OMIM:218330
Stüve-Wiedemann Syndrome	Osteopenia, Camptodactyly of finger, Recurrent fractures, Flexion contracture, Elbow flexion cont...	ORPHA:3206
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Small scrotum, Cryptorchidism, Gait ataxia, Low frustration tolerance, Microphallu...	OMIM:300486
Argininemia	Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Irrit...	OMIM:207800
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pub...	ORPHA:2232
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Pancreatic adenocarcinoma, Diabetes mellitus, Dorsocervical fat pad, Impaired ...	ORPHA:99889
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Hypoglycemia, Camptodactyly of finger, Abnormal dental enamel morpholog...	ORPHA:2710
47,Xyy Syndrome	Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Attention ...	ORPHA:8
Chime Syndrome	Sparse hair, Fine hair, Osteolysis, Acute leukemia	ORPHA:3474
Dehydrated Hereditary Stomatocytosis 2	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:616689
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	ORPHA:42
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Glass Syndrome	Inguinal hernia, Long eyelashes, Camptodactyly, Sparse hair, Generalized osteoporosis	OMIM:612313
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Inguinal hernia, Recurrent fractures, Joint hypermobility, Reduced bone mineral density	OMIM:619115
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa...	ORPHA:980
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Absent gallbladder, Hypospadias, Cryptorchidism, Hypocal...	ORPHA:163979
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Conjugated hyper...	OMIM:208500
X Small Rings	Joint laxity, Osteoporosis, Low posterior hairline, Reduced bone mineral density	ORPHA:96201
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Insulin resistance, Reduced bone mineral density	OMIM:619322
46,Xy Sex Reversal 4	Distal symphalangism, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentrati...	OMIM:154230
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts...	OMIM:610199
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction...	ORPHA:268
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Genital hernia, Cystocele, Osteoarthritis, Osteolysis, Limitation of joint mobil...	ORPHA:285
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Spherocytosis, Type 4	Splenomegaly, Jaundice, Hyperbilirubinemia	OMIM:612653
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Decreased circulating cortisol level, Hypoglycemia, Eosinop...	ORPHA:199299
Stuve-Wiedemann Syndrome 1	Elbow flexion contracture, Osteoporosis, Pathologic fracture, Knee flexion contracture, Camptodac...	OMIM:601559
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Osteoporosis, Joint hypermobility, Bicoronal synostosis	OMIM:619718
Lethal Acantholytic Erosive Disorder	Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy	ORPHA:158687
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi...	ORPHA:85188
Mosaic Variegated Aneuploidy Syndrome	Acute lymphoblastic leukemia, Osteolysis	ORPHA:1052
Osteootohepatoenteric Syndrome	Recurrent fractures, Microvesicular hepatic steatosis, Cholestasis, Reduced bone mineral density,...	OMIM:619377
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice	OMIM:185000
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Ne...	OMIM:617052
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Hypoplasia of the fallopian tube, Hyperlipidemia, Insulin-resistant dia...	ORPHA:3464
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal urinary color, Increased total bilirubin	ORPHA:90037
Hereditary Elliptocytosis	Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice, Cholelithiasis, Neonatal...	ORPHA:288
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Diabetes mellitus, Septate vagina, Unilateral renal agenesis, Uterus didelph...	ORPHA:2237
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Low frustration tol...	ORPHA:163681
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Osteoporosis, Lipoma, Pancreatitis, Chondrocalcinosis	ORPHA:99880
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure, Cardiomegaly	OMIM:619259
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Increased serum iron, Increased total iron binding capacity, Hyper...	ORPHA:98870
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Abnormal c...	ORPHA:100924
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Prol...	ORPHA:90673
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Osteopenia, Alopecia, Failure to thrive in infancy, Osteoporosis, ...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Osteopenia, Alopecia, Failure to thrive in infancy, Osteoporosis, ...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Osteopenia, Alopecia, Failure to thrive in infancy, Osteoporosis, ...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Osteopenia, Alopecia, Failure to thrive in infancy, Osteoporosis, ...	ORPHA:881
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Osteoporosis, Atr...	ORPHA:536467
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus	OMIM:601076
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia,...	ORPHA:2298
Spherocytosis, Type 2	Splenomegaly, Jaundice, Hyperbilirubinemia	OMIM:616649
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Joint stiffness, Flexion co...	OMIM:609069
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi...	ORPHA:83628
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Frank-Ter Haar Syndrome	Osteopenia, Wide anterior fontanel, Osteoporosis, Camptodactyly, Cortical irregularity	OMIM:249420
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick...	ORPHA:89936
Degcags Syndrome	Osteopenia, Hepatomegaly, Ambiguous genitalia, Hypospadias, Craniosynostosis, Oral-pharyngeal dys...	OMIM:619488
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Highly arched eyebrow, Abnormality of the gallbladder, Osteoporo...	ORPHA:280
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Increased circulating ferritin concentration, Splenomegaly, Intermittent ...	ORPHA:3202
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Flexion contracture, Osteoporosis, Elevated circulating alanine aminotransferase co...	ORPHA:365
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Joint laxity, Sparse scalp hair, Short nail, Delayed proximal femoral epiphyseal ossification, Fl...	OMIM:271640
Hutchinson-Gilford Progeria Syndrome	Osteoarthritis, Reduced bone mineral density, Dystrophic fingernails, Limitation of movement at a...	ORPHA:740
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Premature Ovarian Failure 7	Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy	OMIM:612964
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Ataxia, Conjugated hyperbilirubinemia, Inability to walk, Splenomegaly, Jaundice, H...	OMIM:608885
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Attention deficit hyperactivity di...	OMIM:617914
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Osteoporosis, Hepatic fibrosis, Decreased body weight	OMIM:615273
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Marshall-Smith Syndrome	Craniosynostosis, Increased susceptibility to fractures, Reduced bone mineral density, Joint hype...	ORPHA:561
Prolactinoma	Osteopenia, Osteoporosis, Abnormal hair quantity	ORPHA:2965
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Joint laxity, Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Irritability, Se...	ORPHA:449291
Cranioectodermal Dysplasia 2	Joint laxity, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Cholangitis, Cran...	OMIM:613610
Amed Syndrome, Digenic	Hypoplasia of the uterus, Attention deficit hyperactivity disorder	OMIM:619151
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe ...	ORPHA:3109
Occipital Horn Syndrome	Joint laxity, Hiatus hernia, Capitate-hamate fusion, Osteoporosis, Coarse hair, Limited knee exte...	OMIM:304150
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ...	OMIM:256810
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Inguinal hernia, Osteoporosis, Joint laxity	OMIM:225400
Satoyoshi Syndrome	Hypoplasia of the uterus, Mildly elevated creatine kinase, Osteolytic defects of the phalanges of...	OMIM:600705
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
X-Linked Intellectual Disability, Nascimento Type	Hypospadias, Aggressive behavior, Cryptorchidism, Compulsive behaviors, Vesicoureteral reflux, Mi...	ORPHA:163956
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Inguinal hernia, Generalized joint laxity, Decreased calvarial ossifica...	OMIM:613848
Ogden Syndrome	Global glomerulosclerosis, Maternal diabetes, Cryptorchidism, Jaundice, Microvesicular hepatic st...	OMIM:300855
Marfan Syndrome	Osteopenia, Inguinal hernia, Arthralgia/arthritis, Cachexia, Limited elbow movement, Osteoporosis...	ORPHA:558
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia	OMIM:613986
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Osteomalacia, Weight loss, Increased susceptibility to fractures, Glycosuria, Hypop...	ORPHA:3337
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Dentinog...	OMIM:112240
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi...	OMIM:613471
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proximal renal tubular aci...	OMIM:146255
X-Linked Cerebral Adrenoleukodystrophy	Hyperactivity, Decreased circulating cortisol level, Ataxia, Abnormal circulating fatty-acid conc...	ORPHA:139396
Tbck-Related Intellectual Disability Syndrome	Thick eyebrow, Synophrys, Osteoporosis, Hirsutism	ORPHA:488632
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Inguinal hernia, Synophrys, Osteoporosis, Atypical scarring of skin, Umbilical hernia...	ORPHA:536545
Anemia, Congenital Dyserythropoietic, Type Ia	Splenomegaly, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice	OMIM:224120
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Splenomegaly, Jaundice, Hemoglobinuria, Unconjugated hyperbilirubinemia, Prolonged neonatal jaund...	OMIM:300908
Infantile Nephropathic Cystinosis	Failure to thrive, Rickets, Glycosuria	ORPHA:411629
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Sickle Cell Disease	Hepatomegaly, Hypertension, Splenomegaly, Cardiomegaly	OMIM:603903
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,...	OMIM:619418
Osteogenesis Imperfecta	Osteopenia, Inguinal hernia, Small for gestational age, Abnormal dental enamel morphology, Recurr...	ORPHA:666
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Increased total bilirubin	ORPHA:90036
Primrose Syndrome	Hip contracture, Sparse scalp hair, Diabetes mellitus, Joint hypermobility, Absent facial hair, S...	OMIM:259050
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Reduced bone mineral density, Hip contracture, Ankle flexion contracture, Knee flexion contracture	OMIM:620232
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp...	OMIM:618314
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog...	ORPHA:2658
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, Abnormality of the pancreas, White hair, Reduced bone mineral density, Fine hair...	ORPHA:935
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Intrahepatic bile d...	OMIM:619534
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Micropenis, Joint laxity, Hepatome...	OMIM:243800
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated...	OMIM:614921
Meckel Syndrome 14	Decreased calvarial ossification, Hepatic fibrosis, Polycystic kidney dysplasia, Aplasia of the u...	OMIM:619879
X-Linked Intellectual Disability, Snyder Type	Recurrent fractures, Sparse eyebrow, Synophrys, Osteoporosis, Camptodactyly	ORPHA:3063
Cystinosis, Nephropathic	Hepatomegaly, Hypopigmentation of hair, Diabetes mellitus, Failure to thrive in infancy, Splenome...	OMIM:219800
Fumarase Deficiency	Increased urine succinate level, Intrahepatic cholestasis, Elevated urine fumaric acid level, Ami...	OMIM:606812
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Woodhouse-Sakati Syndrome	Diabetes mellitus, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of t...	OMIM:241080
Familial Hypocalciuric Hypercalcemia	Lipoma, Osteomalacia, Pancreatitis, Chondrocalcinosis	ORPHA:405
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Alopecia, Sparse eyelashes, Thrombocytopenia, Osteoporosis,...	OMIM:305000
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets	OMIM:612089
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:529799
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Sparse scalp hair, Inguinal hernia, Multiple joint contractures, Joint hypermobility,...	ORPHA:536471
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly	OMIM:268800
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
17Q11 Microdeletion Syndrome	Osteopenia, Osteoporosis, Osteolysis, Leukemia, Thickened cortex of long bones	ORPHA:97685
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia...	ORPHA:90794
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:614129
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Irritability, H...	ORPHA:90038
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine...	ORPHA:18
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Inguinal hernia, Osteoporosis, Lower-limb joint contracture, Lipoma, Hirsutism	ORPHA:459070
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe generalized osteoporosis, Minimal subcutaneous fat, Knee flexion contracture	OMIM:210730
Rh Deficiency Syndrome	Jaundice, Reduced haptoglobin level, Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:71275
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Media...	OMIM:194050
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorch...	OMIM:614527
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Jaundice, Chronic kidney...	ORPHA:447
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Shoulder flexion contracture, Cryptorchidism, Delayed epiphyseal ossification, F...	OMIM:210710
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypoglycem...	OMIM:276700
Rh-Null, Regulator Type	Jaundice, Unconjugated hyperbilirubinemia	OMIM:268150
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Cerebrotendinous Xanthomatosis	Osteopenia, Osteoporosis, Increased susceptibility to fractures, Prolonged neonatal jaundice, Cho...	ORPHA:909
Oeis Complex	Hydroureter, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal...	OMIM:258040
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia	OMIM:617466
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fractures, Pathologic ...	OMIM:259770
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Meckel Syndrome 12	Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Arthrogryposis multiplex congeni...	OMIM:616258
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Hypercholesterolemia, Camptodactyly of finger, Osteomalacia, Rickets, Corneal ...	OMIM:309000
Tsh-Secreting Pituitary Adenoma	Osteopenia, Osteoporosis, Abnormal hair quantity, Weight loss	ORPHA:91347
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Neurooculorenal Syndrome	Decreased circulating cortisol level, Unilateral renal agenesis, Conjugated hyperbilirubinemia, C...	OMIM:620305
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Alopecia, Osteomalacia, Loss of eyelashes, Osteoporosi...	ORPHA:2636
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Osteoporosis, Nail dystrophy, Enamel hypoplasia, Failure to thrive, Anemia	ORPHA:79404
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Inguinal hernia, Osteoarthritis of the small joints of the hand, Camptodactyly of f...	ORPHA:284984
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Iron deficiency anemia, At...	ORPHA:79408
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral density, Bowing ...	OMIM:166220
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia	ORPHA:228308
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Absent external genitalia, Urethral atresia, Aplasia of the va...	OMIM:271520
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Pmm2-Cdg	Elevated hepatic transaminase, Osteopenia, Joint laxity, Multiple joint contractures, Lipodystrop...	ORPHA:79318
Familial Osteodysplasia, Anderson Type	Abnormal cortical bone morphology, Recurrent fractures, Thick eyebrow, Increased susceptibility t...	ORPHA:2769
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Spondyloocular Syndrome	Osteopenia, Low posterior hairline, Thin bony cortex, Decreased body weight	OMIM:605822
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Sparse scalp hair, Inguinal hernia, Sagittal craniosynostosi...	ORPHA:221120
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary	OMIM:612310
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619665
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia, Jaundice, Ataxia, Hepatosplenomegaly	ORPHA:168577
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Joint hyp...	ORPHA:457284
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosplenomegaly, Irri...	OMIM:618278
Faciocardiomelic Syndrome	Osteopenia, Short eyelashes, Thin bony cortex, Large for gestational age	OMIM:612731
Poland Syndrome	Diabetes mellitus, Congenital diaphragmatic hernia, Absence of subcutaneous fat, Finger symphalan...	ORPHA:2911
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Hyperactivity, Aggressive behavior	ORPHA:85327
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Williams Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Increased bone mineral density, Failure to thrive in i...	ORPHA:904
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Inguinal hernia, Hypercholesterolemia, Osteomalacia, Abnormal dental enamel mo...	ORPHA:534
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Attention deficit hyperactivi...	OMIM:614083
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Mitral valve prolapse, Hepat...	OMIM:602782
Vascular Ehlers-Danlos Syndrome	Inguinal hernia, Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Osteoarthrit...	ORPHA:286
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary	ORPHA:247768
Aspartylglucosaminuria	Hepatomegaly, Inguinal hernia, Joint stiffness, Splenomegaly, Arthritis, Umbilical hernia, Abnorm...	ORPHA:93
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Splenomegaly, Hepatitis, Weig...	OMIM:619381
Thrombocytopenia-Absent Radius Syndrome	Fused cervical vertebrae, Aplasia of the uterus, Horseshoe kidney	ORPHA:3320
Exstrophy-Epispadias Complex	Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Cryptorchidis...	ORPHA:322
Loeys-Dietz Syndrome 2	Joint laxity, Inguinal hernia, Craniosynostosis, Osteoporosis, Camptodactyly, Umbilical hernia, J...	OMIM:610168
Cardiac-Urogenital Syndrome	Bifid scrotum, Accessory spleen, Ambiguous genitalia, Unilateral cryptorchidism, Cryptorchidism, ...	OMIM:618280
Fucosidosis	Hepatomegaly, Cardiomegaly	ORPHA:349
Yellow Fever	Acute pancreatitis, Anuria, Renal insufficiency, Elevated circulating aspartate aminotransferase ...	ORPHA:99829
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Osteoporosis, Uterine prolapse, High anterior hairline, Anemia	ORPHA:438213
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
46,Xy Partial Gonadal Dysgenesis	Sparse pubic hair, Osteoporosis, Sparse axillary hair	ORPHA:251510
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Weill-Marchesani Syndrome 2	Joint stiffness, Elbow flexion contracture, Umbilical hernia, Flexion contracture of toe, Thin bo...	OMIM:608328
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Mucosal telangiectasiae	ORPHA:2463
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Singleton-Merten Syndrome 1	Osteopenia, Osteoporosis, Osteolytic defects of the phalanges of the hand, Decreased body weight,...	OMIM:182250
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy	ORPHA:79330
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness	OMIM:277600
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Craniosynostosis, Bifid uterus	ORPHA:1521
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Microphthalmia, Syndromic 9	Cryptorchidism, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uter...	OMIM:601186
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout, Xanth...	OMIM:232240
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Hydrocele testis, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice	OMIM:620186
Congenital Disorder Of Glycosylation, Type Iim	Ureteropelvic junction obstruction, Vesicovaginal fistula, Neonatal hyperbilirubinemia	OMIM:300896
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Heart m...	OMIM:252500
Proximal Renal Tubular Acidosis	Glycosuria, Failure to thrive, Enamel hypomineralization, Reduced bone mineral density	ORPHA:47159
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Humeroradial synostosis, Aplasia of the uterus	ORPHA:2879
Non-Acquired Panhypopituitarism	Osteopenia, Osteoporosis of vertebrae, Hypoglycemia, Abnormality of secondary sexual hair	ORPHA:90695
Acromesomelic Dysplasia 3	Carpal synostosis, Hypergonadotropic hypogonadism, Tarsal synostosis, Hypoplasia of the uterus	OMIM:609441
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:608013
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Unilateral renal agenesis, Hypoplastic labia majora, Hypoplasia of the uterus, ...	OMIM:618419
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Generalized Arterial Calcification Of Infancy	Cyanosis, Failure to thrive in infancy, Osteomalacia, Hepatic calcification, Abnormal calcificati...	ORPHA:51608
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney	OMIM:130650
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Hypospadias, Precocious puberty, Cryptorchidism, Biliary trac...	OMIM:194190
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Atrioventricular block, Reduced left ventricular ejecti...	ORPHA:581
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy	OMIM:309801
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Pancreatic cysts, Vesicoureteral reflux, Horseshoe kidney, Hepatosplenomega...	OMIM:274000
Bohring-Opitz Syndrome	Abnormal cardiac septum morphology, Bradycardia, Cardiomegaly	ORPHA:97297
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Thin bony cortex	OMIM:619727
Coffin-Siris Syndrome 1	Joint laxity, Hydroureter, Hypospadias, Aggressive behavior, Ectopic kidney, Cryptorchidism, Rena...	OMIM:135900
Fucosidosis	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:230000
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, ...	OMIM:130050
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Norrie Disease	Diabetes mellitus, Cryptorchidism, Irritability, Self-injurious behavior, Attention deficit hyper...	ORPHA:649
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Humeroradial synostosis, Elbow flexion contracture, D...	OMIM:276820
Townes-Brocks Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie...	OMIM:107480
Aicardi-Goutières Syndrome	Raynaud phenomenon, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:51
Okamoto Syndrome	Urinary incontinence, Bifid uterus, Splenomegaly, Unilateral renal hypoplasia, Ureteropelvic junc...	ORPHA:2729
Loeys-Dietz Syndrome	Joint hyperflexibility, Camptodactyly of finger, Craniosynostosis, Uterine rupture	ORPHA:60030
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Bifid uterus, Abnormal vagina morphology, Hydronephrosis	OMIM:236680
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Arrhythmia	OMIM:256040
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus	OMIM:110100
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,...	ORPHA:3472
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Peters-Plus Syndrome	Joint laxity, Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Bilobate gallbladder, ...	OMIM:261540
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki...	ORPHA:116
Neu-Laxova Syndrome 1	Cryptorchidism, Bifid uterus, Joint contracture of the hand, Camptodactyly	OMIM:256520
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:572333
Pallister-Killian Syndrome	Small scrotum, Hypospadias, Inability to walk, Cryptorchidism, Flexion contracture, Renal cyst, H...	OMIM:601803
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Low posterior hairline	OMIM:618672

Histopathology

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

There is no histopathology data for Cnot3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cnot3.

No publications found that use IMPC mice or data for Cnot3.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Cnot3^{tm47215(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Cnot3^{tm380175(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Cnot3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Cnot3^{em1(IMPC)Rbrc}	Indel	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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