Gene: Rassf2 MGI:2442060

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

Ras association (RalGDS/AF-6) domain family member 2

Synonyms:

9030412M04Rik, 3830431H01Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rassf2 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 Rassf2 (0 diseases)
Human diseases predicted to be associated with Rassf2 (724 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rassf2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Forsythe-Wakeling Syndrome	Decreased body weight, Thrombocytopenia, Short stature, Osteoporosis, Growth delay	OMIM:613606
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia, Osteopor...	ORPHA:100024
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ...	ORPHA:79301
Congenital Disorder Of Glycosylation, Type Iik	Growth delay, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, J...	OMIM:614727
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Osteopenia, Hepatic fibrosis, Bone marrow h...	OMIM:617341
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentr...	ORPHA:369
Immunodeficiency 48	Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p...	OMIM:269840
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	OMIM:614480
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Decreased proportion ...	OMIM:617241
Niemann-Pick Disease, Type A	Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate amin...	OMIM:257200
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis	OMIM:608805
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Granuloma, Hemophagocytosi...	OMIM:619858
Aggressive Systemic Mastocytosis	Decreased liver function, Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplenism, L...	ORPHA:98850
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteoporosis, Osteopenia, Hypogonadotropic hypogonadism	OMIM:615269
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Immunodeficiency 104	Failure to thrive secondary to recurrent infections, Splenomegaly, Lymphadenopathy, Hepatomegaly,...	OMIM:608971
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Splenomegaly, Short stature, Hepatomegaly, Jaundice, Reduced bone...	ORPHA:172
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Pancytopenia, ...	OMIM:613989
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231226
Severe Combined Immunodeficiency, X-Linked	Failure to thrive, Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemaggl...	OMIM:300400
Sialidosis Type 2	Splenomegaly, Hepatomegaly, Osteoporosis, Flexion contracture, Short stature	ORPHA:87876
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Joint stiffness, Postnatal growth retardation, Splenomegaly, Joint hyper...	OMIM:620210
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype...	OMIM:278000
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun...	OMIM:617514
Mirage Syndrome	Radial club hand, Lymphopenia, Leukopenia, Decreased testicular size, Adrenal insufficiency, Cryp...	OMIM:617053
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypogonadism, Splenome...	OMIM:613313
Gaucher Disease Type 1	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Cirrhosis, Hepatomegaly, Osteopenia, Cholelithia...	ORPHA:77259
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Extensor Tendons Of Finger Anomalies	Osteoporosis, Limitation of joint mobility, Camptodactyly of finger	ORPHA:3294
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti...	OMIM:619802
Premature Ovarian Failure 2B	Osteoporosis, Delayed puberty	OMIM:300604
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:264580
Isolated Glycerol Kinase Deficiency	Short stature, Osteoporosis, Adrenocortical hypoplasia, Cryptorchidism	ORPHA:408
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,...	ORPHA:169154
Gracile Bone Dysplasia	Failure to thrive, Decreased skull ossification, Short stature, Asplenia, Hypoplastic spleen	OMIM:602361
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteoporosis, Osteopenia, Delayed puberty	OMIM:615271
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Delayed puberty, S...	ORPHA:2410
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay	OMIM:619164
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Postnatal growth retar...	ORPHA:79240
Refractory Celiac Disease	Normocytic anemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Ab...	ORPHA:398063
Tyrosinemia Type 1	Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepatomegaly, Hepatocellular car...	ORPHA:882
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Failure to thrive, Postnatal growth retardation, Pancytopenia,...	ORPHA:2169
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Short stature, Osteoporosis, Eosinophilia	OMIM:620532
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Rickets, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cho...	OMIM:211600
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	T lymphocytopenia	OMIM:242870
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Elevated circulating alanine...	OMIM:613759
Winchester Syndrome	Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis	OMIM:277950
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple...	OMIM:606003
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm...	OMIM:301078
Propionic Acidemia	Failure to thrive, Pancytopenia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemi...	OMIM:606054
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Short stature, Decreased mean co...	OMIM:611590
Senior-Loken Syndrome	Short stature, Abnormality of bone mineral density, Congenital hepatic fibrosis	ORPHA:3156
Immunodeficiency 12	Decreased body weight, Abnormal lymphocyte count, Short stature, Osteoporosis, Growth delay	OMIM:615468
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly...	OMIM:603554
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan...	ORPHA:139507
Osteoporosis	Osteoporosis	OMIM:166710
Hyaline Fibromatosis Syndrome	Osteopenia, Failure to thrive, Progressive flexion contractures, Osteoporosis, Flexion contractur...	OMIM:228600
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Joint hypermobility	ORPHA:2787
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos...	OMIM:619377
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Increased suscept...	ORPHA:98849
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed thelarche, Joint hypermobility, Delayed puberty, Hyperinsulinemic hypoglycemia, Short sta...	OMIM:616033
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:611926
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t...	OMIM:615617
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Splenoportal Vascular Anomalies	Hepatic fibrosis, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabetes mellitus	OMIM:271500
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout, Type II diabetes mellitus	OMIM:610947
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Osteoporosis, Macrovesicular hepatic steatosis, Failure to thrive	OMIM:618234
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Failure to thrive, Elevated circula...	ORPHA:289157
Flynn-Aird Syndrome	Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral...	OMIM:136300
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Hypogonadism, Congenital hepatic fibrosi...	ORPHA:79230
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Fa...	OMIM:619487
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:333
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cryptorchidism, Jaundic...	ORPHA:79239
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, O...	OMIM:224230
Familial Hyperprolactinemia	Osteoporosis, Osteopenia, Female hypogonadism, Hemorrhagic ovarian cyst	ORPHA:397685
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hypogonadotropic hypogonad...	OMIM:235200
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Failure to thrive, Abnormal lymph node morphology, Decreased proportion of CD8-pos...	ORPHA:911
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Osteoporosis, Cryptorchidism	ORPHA:2958
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Retinitis Pigmentosa 89	Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis	OMIM:618955
Rothmund-Thomson Syndrome, Type 1	Short stature, Osteoporosis, Male hypogonadism, Hypothyroidism	OMIM:618625
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia, Growth delay	ORPHA:169079
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Elevated circulating thyroid-stim...	OMIM:610199
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Osteoporosis	OMIM:233300
Prieto Syndrome	Osteoporosis, Cryptorchidism	OMIM:309610
Senior-Loken Syndrome 9	Hepatic fibrosis, Osteopenia, Cholestasis, Hypogonadism, Obesity	OMIM:616629
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu...	OMIM:127550
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Osteoporosis	ORPHA:2786
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly, Increased bone mineral density, Sh...	ORPHA:2204
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hyperparathyroidism, Splenomegaly, Hepatomegaly, Anemia, Recurrent fractures	OMIM:618107
Dyskeratosis Congenita, Autosomal Dominant 3	Osteopenia, Bone marrow hypocellularity, Aplastic anemia, Growth delay, Pancytopenia, Leukopenia,...	OMIM:613990
Warburg Micro Syndrome 1	Failure to thrive, Cryptorchidism, Joint hypermobility, Short stature, Osteoporosis	OMIM:600118
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul...	OMIM:300972
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increased bone mine...	ORPHA:37748
Thrombocytopenia 6	Osteoporosis, Myelofibrosis, Thrombocytopenia	OMIM:616937
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Hy...	ORPHA:848
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Lissencephaly Syndrome, Norman-Roberts Type	Intrauterine growth retardation, Hypoplastic spleen	ORPHA:89844
Lysinuric Protein Intolerance	Hemophagocytosis, Failure to thrive, Leukopenia, Splenomegaly, Hepatomegaly, Pancreatitis, Thromb...	OMIM:222700
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Postnatal growth retardation, Splenomegaly, Decreased proportion of ...	OMIM:620632
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, R...	ORPHA:79303
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Failure to thrive, Lymphopenia, B lymphocytopenia, Absent ...	ORPHA:277
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Stormorken Syndrome	Howell-Jolly bodies, Short stature, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Joint stiffness, Portal hypertension, Splenomegaly, H...	ORPHA:465508
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequ...	OMIM:612714
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Severe short stature, Osteoporosis	OMIM:204730
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Hepatomegaly, Femur fracture, Osteopetrosis, A...	OMIM:612301
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Intestinal lymphangiectasia, Pulmonary lymphangiectasia, Camptodactyly, Osteoporosis, Pericardial...	OMIM:616006
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, Cervical lymp...	OMIM:618987
Diamond-Blackfan Anemia 7	Osteopenia, Increased mean corpuscular volume, Intrauterine growth retardation, Macrocytic anemia...	OMIM:612562
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Splenomegaly, Hepatomegaly, Short stature	OMIM:615630
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, S...	ORPHA:2959
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive, Failure to thrive secondary to recurrent infections, Arthritis, B lymphocytope...	OMIM:601457
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi...	ORPHA:79106
Infantile Sialic Acid Storage Disease	Osteopenia, Failure to thrive, Splenomegaly, Hepatomegaly, Vacuolated lymphocytes	OMIM:269920
Immunodeficiency 9	Lymphopenia, Hypoplasia of the thymus, Failure to thrive, Abnormal natural killer cell count	OMIM:612782
Perrault Syndrome 1	Increased circulating gonadotropin level, Osteoporosis, Short stature	OMIM:233400
Pseudopseudohypoparathyroidism	Short stature, Osteoporosis, Obesity, Pseudohypoparathyroidism	OMIM:612463
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Increased b...	OMIM:611490
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Rickets, Failu...	OMIM:212750
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa...	OMIM:620005
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Macronodular cirrhosis, Generalized bone demineralization, Abnormal T cell morphology, Short stat...	OMIM:215250
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Leuko...	ORPHA:53035
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Hypogonadotropic hypogonadism, Finger joint contracture, Short s...	ORPHA:48431
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc...	OMIM:615285
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Failure to thrive, Splenomegaly, Lymphadenopathy, Arthritis, B lymphocytop...	ORPHA:397596
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom...	OMIM:619902
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Ery...	OMIM:612541
Bone Marrow Failure Syndrome 6	Osteopenia, Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemogl...	OMIM:618849
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Osteopenia, Aplasia/Hypoplasia of the spleen, Bili...	ORPHA:227990
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Intermediate Osteopetrosis	Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Recurrent fractures, Increased susceptibil...	ORPHA:210110
Glycogen Storage Disease Ib	Elevated circulating hepatic transaminase concentration, Gout, Splenomegaly, Pancreatitis, Delaye...	OMIM:232220
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Osteopenia, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukem...	OMIM:614742
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteoporosis, Osteopenia, Delayed puberty, Hypogonadism	OMIM:615270
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Failure...	OMIM:615895
Lathosterolosis	Intrahepatic cholestasis, Hepatic fibrosis, Elevated circulating aspartate aminotransferase conce...	OMIM:607330
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof...	OMIM:231095
Infantile Systemic Hyalinosis	Severe short stature, Osteopenia, Aplasia/Hypoplasia of the thymus, Failure to thrive, Osteomalac...	ORPHA:2176
Hall-Riggs Syndrome	Osteoporosis, Intrauterine growth retardation, Failure to thrive	OMIM:234250
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteoporosis, Osteopenia, Absence of pubertal development, Hypogonadism	OMIM:615267
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Lymph node ...	OMIM:602450
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Chondroectodermal Dysplasia With Night Blindness	Osteoporosis, Osteopenia, Short stature, Fractures of the long bones	ORPHA:319195
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Intrauterine growth retardation, Leukocytosis, Autoimmune hemolytic anemia, Interfac...	OMIM:243150
Pachydermoperiostosis	Limitation of joint mobility, Osteomyelitis, Abnormal cortical bone morphology, Splenomegaly, Hep...	ORPHA:2796
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
Werner Syndrome	Hypogonadism, Elevated circulating aspartate aminotransferase concentration, Elevated hemoglobin ...	OMIM:277700
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Osteopenia, Aplasia/Hypoplasia of the spleen, Bili...	ORPHA:227982
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Failure to thrive, Hypogonadism, Postnatal growth retardation, Intrauterine growth retardation, S...	ORPHA:73272
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Impaired growth-hormone resp...	OMIM:301068
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Postnatal growth retardation, Adrenal insuf...	OMIM:609981
Cinca Syndrome	Growth delay, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of n...	ORPHA:1451
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Failure to thrive, Pancytopenia, Splenomegaly, Increased proporti...	OMIM:619824
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Absence of pubertal development, Obesity, Decreased testicular size, Cryptorchidism, Hypogonadotr...	OMIM:610628
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Decreased body weight, Short stature, Reduced bone mineral density, Small for gestational age, De...	OMIM:618392
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Tooth abscess, Iron deficiency anemia, Growth delay	ORPHA:89937
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Dpm1-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	ORPHA:79322
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i...	OMIM:619510
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hyperostosis, Chr...	ORPHA:906
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Isosexual precocious pube...	ORPHA:2788
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Short stature, Osteoporosis	ORPHA:71267
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormality of the thyroid gland...	ORPHA:186
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Osteopenia, Decreased testicular size, Cryptorchidism, Osteoporosis	OMIM:614880
Mycetoma	Painless fractures due to injury, Pathologic fracture, Osteomyelitis, Abnormality of the lymphati...	ORPHA:2583
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Hypogonadism, Obesity, Cryptorchidism, Short stature, Osteoporosis, Recu...	ORPHA:3409
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Rickets, Failure to thrive, Hepatomegaly, Osteoporosis	OMIM:560000
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Type I diabetes mellitus, Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemo...	ORPHA:391487
Juvenile Paget Disease	Coarse metaphyseal trabecularization, Cranial hyperostosis, Short stature, Osteoporosis, Recurren...	ORPHA:2801
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, Cryptorchidism, Knee...	OMIM:214150
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Failure to thrive, Neutropenia, Abnormal T cell morphology	OMIM:613501
Peroxisome Biogenesis Disorder 2A (Zellweger)	Joint contracture of the hand, Failure to thrive, Intrauterine growth retardation, Cryptorchidism...	OMIM:214110
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati...	OMIM:251880
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to...	OMIM:212065
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hyperinsu...	OMIM:613327
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cr...	OMIM:615381
Specific Granule Deficiency 2	Osteopenia, Failure to thrive, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia...	OMIM:617475
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Free Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive in infancy, Reduced bone mineral density, Splenomegaly	ORPHA:834
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Rickets...	OMIM:600785
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,...	ORPHA:2235
Syndromic Diarrhea	Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Intrauterine growth retardation, Splenom...	ORPHA:84064
Pearson Syndrome	Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, H...	ORPHA:699
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Failure to thrive, Parotitis, Cholestasis, Elevated circulating aspartate amino...	OMIM:620376
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy	OMIM:620282
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Nasu-Hakola Disease	Limitation of joint mobility, Acute leukemia, Reduced bone mineral density, Bone cyst	ORPHA:2770
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure...	OMIM:618534
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Coarse metaphyseal trabecularization, Intrauterine ...	ORPHA:1775
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv...	OMIM:613812
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen...	OMIM:242700
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia, Short stature	ORPHA:3204
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Ataxia-Telangiectasia	Failure to thrive, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B c...	OMIM:208900
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bone marrow hypocellularity, Pathologic fracture, Postnatal growth retardation, Intra...	OMIM:612199
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, ...	OMIM:610475
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Growt...	ORPHA:541423
Majeed Syndrome	Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegaly, Increased susceptibility to fractur...	ORPHA:77297
Mccune-Albright Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia...	ORPHA:562
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Osteogenesis Imperfecta, Type Xii	Hypermobility of interphalangeal joints, Osteoporosis, Generalized osteoporosis, Short stature, R...	OMIM:613849
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Postnatal growth retardation, Osteo...	OMIM:620366
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count, ...	OMIM:612260
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Intrauterine growth reta...	OMIM:231100
Cranioectodermal Dysplasia	Osteoporosis, Rhizomelia, Craniosynostosis, Joint hypermobility	ORPHA:1515
Ruijs-Aalfs Syndrome	Hypogonadism, Elbow flexion contracture, Decreased body weight, Short stature, Osteoporosis, Hepa...	OMIM:616200
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, ...	OMIM:615830
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Intrahepatic bile duct...	OMIM:216360
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Cholelithiasis, Hepatic failure, Decreased liver function, Pathologic fracture, Hyper...	ORPHA:77293
Bile Acid Conjugation Defect 1	Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated...	OMIM:619232
Ovarian Dysgenesis 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Ele...	OMIM:618187
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Type I diabetes mellitus, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocy...	OMIM:620365
Bruck Syndrome 1	Ankle flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures, Knee...	OMIM:259450
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Rheumatoid arthri...	ORPHA:331235
Morgagni-Stewart-Morel Syndrome	Obesity, Abnormality of the thyroid gland, Hypothyroidism, Osteoarthritis, Osteoporosis, Abnormal...	ORPHA:77296
Idiopathic Hypercalciuria	Osteoporosis, Osteopenia	ORPHA:2197
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Osteoporosis, Failure to thrive	OMIM:266510
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Iron deficiency anemia, Weight loss, Os...	ORPHA:309031
Immunodeficiency 36 With Lymphoproliferation	Growth delay, Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of tran...	OMIM:616005
Leukodystrophy, Hypomyelinating, 24	Severe short stature, Flexion contracture, Hypothyroidism, B lymphocytopenia	OMIM:619851
Abetalipoproteinemia	Osteopenia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to...	ORPHA:14
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Pseudohypoparathyroidism, Type Ia	Elevated circulating parathyroid hormone level, Hypogonadism, Obesity, Pseudohypoparathyroidism, ...	OMIM:103580
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Short stature, Reduced bone mineral density, Delayed ossification of carpal bones	OMIM:617974
Glycogen Storage Disease Iii	Hepatomegaly, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Short st...	OMIM:232400
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Craniosynostosis	OMIM:200995
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Failure to thrive in infancy, Osteomyelitis, Abscess, Splenomegaly, Neut...	OMIM:612852
Immunodeficiency 17	Abnormal B cell morphology, Failure to thrive, Decreased proportion of CD8-positive T cells, Auto...	OMIM:615607
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Growth delay, Failure to thrive, Gout, Hepatic steatosis, Increased susceptibility to...	ORPHA:79259
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Abnormal circulating h...	ORPHA:280356
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Osteoporosis, Hypogonadotropic hypogonadism, Decreased testicular size	OMIM:614838
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Increased susceptibility to fra...	ORPHA:2909
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Disproportionate short stature, Decreased proportion of CD8-positive T cells, Lymphopenia, Elbow ...	ORPHA:508533
Heme Oxygenase 1 Deficiency	Growth delay, Cervical lymphadenopathy, Elevated circulating aspartate aminotransferase concentra...	OMIM:614034
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port...	OMIM:617394
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Increased circulating cortisol level, Decreased circulating ACTH concentration, Macro...	OMIM:219080
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Failure to thrive, Sparse bone trabeculae, Thin bony co...	OMIM:600081
Spondyloepimetaphyseal Dysplasia, Irapa Type	Disproportionate short-limb short stature, Limitation of joint mobility, Synostosis of carpal bon...	ORPHA:93351
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Pseudohypoparathyroidism, Type Ic	Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ...	OMIM:612462
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79124
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:275761
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Roifman Syndrome	Postnatal growth retardation, Hepatosplenomegaly, Intrauterine growth retardation, Hip contractur...	ORPHA:353298
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, Hepatosplenomegaly, Hypoph...	OMIM:307800
Rhyns Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Reduced circulating growth hor...	OMIM:602152
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Osteopenia, Tracheomalacia, Joint hypermobility, Hypoplasia of the thymus, Adre...	OMIM:613177
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circulating aspartate...	OMIM:615486
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteoporosis, Osteopenia	ORPHA:529665
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Growth delay, Hypogonadism, Cry...	ORPHA:221008
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Failure to thrive, Hypopituitarism, Absent peripheral lymph nodes in presence of infe...	ORPHA:98813
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Failure to thrive, Perianal abscess, B lymphocytopenia, T lymp...	OMIM:618108
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Hepatic fibrosis, Rhizomelia, Failure to thrive, Cholestasis, Hepatosplenomegaly, Con...	OMIM:266920
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Limitation of joint mobility, Failure to thrive, Hepatic steatosis, Pancreatitis, Osteoporosis, G...	OMIM:236200
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
Functioning Gonadotropic Adenoma	Osteopenia, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation...	ORPHA:91348
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Small for gestation...	ORPHA:30391
Analbuminemia	Osteoporosis	OMIM:616000
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Failure to thrive, Growth delay, Hypophosphatemic ricke...	OMIM:241530
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Failure to thrive...	OMIM:606367
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Flexion contracture, Wide anterior fontanel, Decreased skull ossification	OMIM:263210
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ...	ORPHA:507
Bruck Syndrome	Joint stiffness, Short stature, Osteoporosis, Arthrogryposis multiplex congenita, Recurrent fract...	ORPHA:2771
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Immunodeficiency 62	Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran...	OMIM:618459
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Rickets, Failure to thrive, Elevated circulating parathyroid hor...	OMIM:264700
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Rickets, Failure to thrive, Elevated circulating parathyroid hor...	OMIM:277440
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis	OMIM:176090
Laurence-Moon Syndrome	Obesity, Type II diabetes mellitus, Cryptorchidism, Congenital hepatic fibrosis, Short stature	ORPHA:2377
Immunodeficiency 114, Folate-Responsive	Lymphopenia, Postnatal growth retardation, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, ...	OMIM:620603
Lysinuric Protein Intolerance	Osteopenia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hemophagocy...	ORPHA:470
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Lymphadenopathy, Thrombocytopenia, B l...	OMIM:618048
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Decreased body weight, Joint hypermobility, Limitation of knee mo...	OMIM:614856
Calvarial Doughnut Lesions With Bone Fragility	Osteoporosis, Osteopenia, Recurrent fractures, Severe short stature	OMIM:126550
Immunodeficiency 31C	Osteopenia, Growth delay, Lymphopenia, Osteomyelitis, Autoimmune hemolytic anemia, Splenomegaly, ...	OMIM:614162
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Splenome...	OMIM:102700
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Congenital hepatic fibrosis	ORPHA:446
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono...	ORPHA:486
Rothmund-Thomson Syndrome Type 2	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Growth delay, Pathologic fractu...	ORPHA:221016
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Intrauterine growth retardatio...	OMIM:222470
Short Stature, Dauber-Argente Type	Osteopenia, Fasting hyperinsulinemia, Postnatal growth retardation, Short stature, Reduced bone m...	OMIM:619489
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Type I diabetes mellitus, Carpal osteolysis, Osteolysis involving tarsal bones, Incre...	ORPHA:371428
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Fa...	ORPHA:331206
Immunodeficiency 40	Eosinophilic granuloma, Elevated circulating aspartate aminotransferase concentration, Elevated c...	OMIM:616433
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Congenital Erythropoietic Porphyria	Osteopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Throm...	ORPHA:79277
Spondylo-Ocular Syndrome	Short stature, Osteoporosis, Disproportionate short-trunk short stature, Joint hypermobility	ORPHA:85194
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Wilson Disease	Hepatic failure, Portal fibrosis, Osteomalacia, Acute hepatic failure, Elevated circulating aspar...	OMIM:277900
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Osteoporosis	OMIM:601979
Adams-Oliver Syndrome	Failure to thrive, Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Throm...	ORPHA:974
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Female hypogonadism, Male hypogonadism, Absence of secondary sex characteristics, Bre...	ORPHA:432
Immunodeficiency, Common Variable, 8, With Autoimmunity	Type I diabetes mellitus, Failure to thrive, Pancytopenia, Splenomegaly, Autoimmune hemolytic ane...	OMIM:614700
Axial Osteomalacia	Increased bone mineral density, Polycystic liver disease, Osteomalacia	OMIM:109130
19P13.3 Microduplication Syndrome	Precocious puberty, Intrauterine growth retardation, Osteoporosis, Unilateral cryptorchidism, Gro...	ORPHA:447980
Desbuquois Dysplasia 1	Severe short stature, Disproportionate short-limb short stature, Obesity, Intrauterine growth ret...	OMIM:251450
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Failure to thrive, Pancytopenia, Decreased proportion of CD4-positive hel...	ORPHA:572
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count	OMIM:613493
Lowry-Maclean Syndrome	Osteopenia, Abnormality of the abdominal organs, Growth delay, Bilateral cryptorchidism, Intraute...	ORPHA:2409
Amish Lethal Microcephaly	Hepatomegaly, Osteoporosis, Limitation of joint mobility, Decreased skull ossification	ORPHA:99742
Spondyloenchondrodysplasia With Immune Dysregulation	Rheumatoid arthritis, Lymphopenia, Sclerosis of skull base, T lymphocytopenia, Hypothyroidism, Ly...	OMIM:607944
Menkes Disease	Short stature, Osteoporosis, Intrauterine growth retardation, Joint hypermobility	OMIM:309400
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Intrauterine growth retardation, T lymphocytopenia, Abnormal natural killer cell morphology, B ly...	OMIM:615966
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Sho...	ORPHA:93160
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Hyperostosis, Splenomegaly, Polycystic ...	ORPHA:2969
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Immunodeficiency, Common Variable, 13	Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami...	ORPHA:84081
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Congenital Disorder Of Glycosylation, Type Iiw	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Increased hepa...	OMIM:619525
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Breast hyp...	ORPHA:785
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Elevated circulating hepatic transaminase concentration, Rickets, Small for gestation...	OMIM:613658
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Camptodactyly of finger, Camptodactyly of toe, Knee osteoarthritis, ...	ORPHA:2848
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina...	ORPHA:189427
Aromatase Deficiency	Delayed epiphyseal ossification, Osteopenia, Obesity, Eunuchoid habitus, Cryptorchidism, Hepatic ...	ORPHA:91
Odontochondrodysplasia 1	Mesomelic short stature, Joint hypermobility, Short stature, Osteoporosis, Delayed ossification o...	OMIM:184260
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver function, Elevated...	OMIM:617093
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Immunodeficiency, Common Variable, 6	Hepatomegaly, Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count	OMIM:613496
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Hypophosphatemic Rickets, Autosomal Dominant	Short stature, Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Decreased testicular size, Pancytopenia, Leukopenia, Intrauterine gr...	OMIM:305000
Peroxisome Biogenesis Disorder 1B	Cirrhosis, Hepatic fibrosis, Epiphyseal stippling, Hepatomegaly	OMIM:601539
Perrault Syndrome 4	Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Increased circulating gonadotropin l...	OMIM:615300
Donohue Syndrome	Precocious puberty, Hepatic fibrosis, Cholestasis, Postnatal growth retardation, Hyperinsulinemia...	OMIM:246200
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Shoulder flexion contracture, Decreased testicular size, Hip contr...	OMIM:255800
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ...	ORPHA:289176
Pontocerebellar Hypoplasia, Type 2E	Short stature, Osteoporosis, Flexion contracture, Failure to thrive	OMIM:615851
Coach Syndrome 2	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Congenital hepatic fib...	OMIM:619111
Progressive Pseudorheumatoid Dysplasia	Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteopor...	OMIM:208230
Immunodeficiency 92	Osteomyelitis, Thrombocytosis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased pro...	OMIM:619652
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Idiopathic Juvenile Osteoporosis	Osteoporosis, Recurrent fractures	ORPHA:85193
Cystinosis	Type I diabetes mellitus, Rickets, Failure to thrive, Portal hypertension, Hypothyroidism, Delaye...	ORPHA:213
Familial Isolated Hyperparathyroidism	Osteopenia, Elevated circulating parathyroid hormone level, Parathyroid adenoma, Generalized oste...	ORPHA:99879
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Truncal obesity, Short stature, Reduced bone mineral density, Recurrent fractures	OMIM:620639
Fanconi-Bickel Syndrome	Osteopenia, Hepatic failure, Rickets, Failure to thrive, Growth delay, Elevated circulating aspar...	ORPHA:2088
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb...	ORPHA:729
Mpi-Cdg	Hepatic fibrosis, Failure to thrive, Decreased liver function, Portal hypertension, Hypothyroidis...	ORPHA:79319
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra...	OMIM:300554
Treacher-Collins Syndrome	Failure to thrive, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the adrenal glands, T...	ORPHA:861
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Pancytopenia, Intrauterine growth retardation	OMIM:600546
Agammaglobulinemia 10, Autosomal Dominant	Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells	OMIM:619707
Hepatoerythropoietic Porphyria	Osteopenia, Erythroid hyperplasia, Splenomegaly, Osteoporosis, Hemolytic anemia, Osteolysis	ORPHA:95159
Premature Aging Syndrome, Okamoto Type	Osteoporosis, Diabetes mellitus	OMIM:601811
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Osteopenia, Premature adrenarche, Precocious puberty, Central hypothyroidi...	ORPHA:398079
Hypercholanemia, Familial 1	Rickets, Failure to thrive	OMIM:607748
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp...	ORPHA:98754
Geroderma Osteodysplastica	Severe short stature, Joint hypermobility, Abnormal bone ossification, Osteoporosis, Growth delay...	ORPHA:2078
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hyperinsulinemic hypoglycemia, L...	OMIM:602579
Dermatosparaxis Ehlers-Danlos Syndrome	Severe short stature, Osteopenia, Rickets, Osteomalacia, Joint stiffness, Joint hypermobility, Os...	ORPHA:1901
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Failure to thriv...	OMIM:617052
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Type I diabetes mellitus, Insulin-resistant diabetes mellitus, Irregular tarsal ossification, Hep...	OMIM:226980
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Failure to thrive, Growth delay	OMIM:602722
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Osteopenia, Increased susceptibility to fractures	OMIM:612287
Osteogenesis Imperfecta, Type Xxi	Osteoporosis, Disproportionate short-limb short stature, Recurrent fractures, Joint hypermobility	OMIM:619131
Cantu Syndrome	Osteoporosis, Large for gestational age	OMIM:239850
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:603909
Microphthalmia, Syndromic 9	Severe short stature, Multilobulated spleen, Intrauterine growth retardation, Cryptorchidism, Sho...	OMIM:601186
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatome...	OMIM:263200
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp...	ORPHA:98793
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia, Reduced bone mineral density, Abnormality of the pancreas	ORPHA:935
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Increased circulating cor...	OMIM:610489
Cushing Disease	Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Increased ci...	ORPHA:96253
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp...	ORPHA:177904
Lethal Congenital Contracture Syndrome 10	Stiff neck, Hypoplasia of the thymus, Intrauterine growth retardation	OMIM:617022
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Failure to thrive, Recurrent fractures, Ankylosis, Osteoporosis, Short stature, Incre...	OMIM:239000
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Cholestasis, Hepatosplenomegaly, Hypersplenism, Portal hyp...	ORPHA:731
Poems Syndrome	Polycythemia, Increased circulating prolactin concentration, Sclerosis of foot bone, Sclerosis of...	ORPHA:2905
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Hepatitis, Osteomalacia, Osteomyelitis, Decreased proportion o...	OMIM:619381
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp...	ORPHA:177901
Hajdu-Cheney Syndrome	Osteopenia, Coarse metaphyseal trabecularization, Failure to thrive, Recurrent fractures, Splenom...	ORPHA:955
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Cryptorchidism, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, Joi...	OMIM:618000
Spondyloepiphyseal Dysplasia Tarda	Hip osteoarthritis, Limitation of joint mobility, Failure to thrive, Osteoarthritis of the distal...	ORPHA:93284
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis	ORPHA:199354
Hypophosphatasia, Adult	Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac...	OMIM:146300
Werner Syndrome	Hypogonadism, Slender build, Joint stiffness, Thyroid carcinoma, Type II diabetes mellitus, Aplas...	ORPHA:902
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteoporosis, Osteopenia, Increased susceptibility to fractures	OMIM:612286
Nephronophthisis 11	Anemia, Hepatic fibrosis, Growth delay	OMIM:613550
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, ...	ORPHA:83471
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia	OMIM:612692
Xp21 Deletion Syndrome	Growth delay, Adrenal insufficiency, Primary adrenal insufficiency, Joint hypermobility, Hypogona...	ORPHA:261476
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Growth delay, Gout, Pancreatitis, Delaye...	OMIM:232200
Nestor-Guillermo Progeria Syndrome	Growth delay, Failure to thrive, Pathologic fracture, Decreased serum leptin, Joint stiffness, Ma...	OMIM:614008
Thymic Neuroendocrine Tumor	Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell ade...	ORPHA:97289
Adrenomyodystrophy	Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis, Short stature, Reduced bone ...	ORPHA:977
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Failure ...	ORPHA:276
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Post-Traumatic Pituitary Deficiency	Osteopenia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased ...	ORPHA:95619
Hutchinson-Gilford Progeria Syndrome	Generalized osteoporosis, Growth delay, Osteolysis	OMIM:176670
Alpha-Mannosidosis, Adult Form	Osteopenia, Hepatosplenomegaly, Pancytopenia	ORPHA:309288
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Abnormality of neutrophils, Hypochromic anemia, Reduced bone mineral density	ORPHA:2720
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Decreased circulating parathyroid hormone level, Growth delay, Osteomalacia, Pathologic fracture,...	ORPHA:157215
Cockayne Syndrome B	Severe short stature, Small for gestational age, Limitation of joint mobility, Failure to thrive,...	OMIM:133540
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Bilateral cryptorchidism, Decreased testicular size, Hypogonadotropic hypogonadism, D...	ORPHA:2326
Macs Syndrome	Cryptorchidism, Joint hypermobility, Decreased body weight, Short stature, Osteoporosis, Hypergon...	OMIM:613075
Hypophosphatemic Bone Disease	Short stature, Rickets, Osteomalacia	OMIM:146350
Mucolipidosis Type Iii Alpha/Beta	Postnatal growth retardation, Joint stiffness, Short stature, Generalized osteoporosis, Flexion c...	ORPHA:423461
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short stature, Reduced natural killer cell count, T lymphocytopenia, Failure to thrive	OMIM:242860
Magel2-Related Prader-Willi-Like Syndrome	Small pituitary gland, Osteopenia, Precocious puberty, Central hypothyroidism, Failure to thrive,...	ORPHA:398069
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Elbow flexion contracture, Intrauterine growth retardation, Cryptorchidism, Osteoporo...	OMIM:614438
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Septic arthritis, Abnormal n...	OMIM:607676
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Extramedullary hematopoie...	ORPHA:313855
Immunodeficiency 25	Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia	OMIM:610163
Prader-Willi Syndrome	Small pituitary gland, Osteopenia, Premature adrenarche, Precocious puberty, Decreased circulatin...	ORPHA:739
Joubert Syndrome With Hepatic Defect	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge...	ORPHA:1454
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight,...	OMIM:608747
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Osteoporosis, Disproportionate short-trunk short stature, Joint hypermobility	OMIM:253000
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Intrauterine growth retardation, Autoimm...	ORPHA:436252
Hypoglossia With Situs Inversus	Asplenia, Polysplenia	OMIM:612776
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Ankle flexion contracture, Carpal osteolysis, Interphalangeal joint contracture of fi...	OMIM:259600
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Central hypothyroidism, Contracture of the proximal interphalangeal joint of the 2nd finger, Bila...	OMIM:300998
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Failure to thrive, Lymphopenia, Absent peripheral lymph nodes in pre...	OMIM:600802
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Osteopenia, Large for gestational age, Osteoporosis	OMIM:615398
Spondyloepiphyseal Dysplasia, Maroteaux Type	Short stature, Generalized osteoporosis, Small joint hypermobilty	OMIM:184095
Shwachman-Diamond Syndrome	Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu...	ORPHA:811
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Postnatal growth retardat...	OMIM:616263
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Osteoporosis, Intrauterine growth retardation	OMIM:617190
Mucopolysaccharidosis, Type Ivb	Joint stiffness, Joint hypermobility, Disproportionate short-trunk short stature, Hepatomegaly, O...	OMIM:253010
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sp...	ORPHA:2072
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ...	ORPHA:99889
Prolactinoma	Osteopenia, Secondary growth hormone deficiency, Female hypogonadism, Male hypogonadism, Adrenoco...	ORPHA:2965
Osteogenesis Imperfecta, Type Iii	Neonatal short-limb short stature, Disproportionate short-limb short stature, Bowing of limbs due...	OMIM:259420
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated circulating hepatic transaminase concentration, Rickets, Large for gestational age, Shor...	OMIM:616026
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Early ossification of capital femoral epiphyses, Bile duct proliferation, Pancr...	OMIM:208500
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,...	OMIM:300009
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Failure to thrive, Intrauterine growth retardation, Hypothyroidism, Joint contracture...	OMIM:618005
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis	ORPHA:970
Osteogenesis Imperfecta, Type Xxii	Decreased circulating osteocalcin level, Intrauterine growth retardation, Thin bony cortex, Multi...	OMIM:619795
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Type I diabetes mellitus, Hepatic hemophagocytosis, Abnormal B cell count,...	OMIM:620430
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Increased circulating ACTH level, Obesity, Abdominal obesity, Osteoporosis	OMIM:219090
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Osteopenia, Decreased serum estradiol, Absence of secondary sex characteri...	ORPHA:2232
Renal Tubular Acidosis, Proximal	Short stature, Rickets, Osteomalacia	OMIM:179830
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Neoplasm of the thyroid gland, Lymphangioma, Ovarian neoplasm, Reduced bone mineral density, Recu...	ORPHA:137608
Spondyloepiphyseal Dysplasia Congenita	Growth delay, Limited elbow movement, Disproportionate short-trunk short stature, Osteoporosis, L...	ORPHA:94068
Tenosynovial Giant Cell Tumor	Limitation of joint mobility, Localized osteoporosis, Joint stiffness, Joint hemorrhage, Osteolysis	ORPHA:66627
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, Short stature,...	OMIM:613388
22Q11.2 Deletion Syndrome	Cholelithiasis, Failure to thrive, Multiple suture craniosynostosis, Obesity, Intrauterine growth...	ORPHA:567
Joubert Syndrome 9	Hepatic fibrosis	OMIM:612285
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Cryptorchidism, Joint hypermobility, Hypogonadotropic hypogonad...	OMIM:619718
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Geroderma Osteodysplasticum	Severe short stature, Osteopenia, Increased susceptibility to fractures, Camptodactyly, Osteoporo...	OMIM:231070
Porphyria, Congenital Erythropoietic	Osteopenia, Cholelithiasis, Joint contracture of the hand, Pathologic fracture, Splenomegaly, Hep...	OMIM:263700
Distal Renal Tubular Acidosis	Rickets, Failure to thrive, Growth delay, Osteomalacia, Reduced bone mineral density, Increased s...	ORPHA:18
Fibrous Dysplasia Of Bone	Precocious puberty in females, Rickets, Increased circulating cortisol level, Osteomalacia, Corti...	ORPHA:249
Congenital Myopathy 22A, Classic	Osteoporosis, Achilles tendon contracture, Hip contracture, Congenital finger flexion contractures	OMIM:620351
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Mild postnatal growth retardation, Re...	OMIM:224120
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B...	OMIM:619705
Prader-Willi Syndrome	Precocious puberty, Osteopenia, Class III obesity, Failure to thrive in infancy, Decreased respon...	OMIM:176270
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Growth delay, B lymphocytopenia	OMIM:614069
Glycerol Kinase Deficiency	Pathologic fracture, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Cryp...	OMIM:307030
Laterality Defects, Autosomal Dominant

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