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Gene: Ifngr1 MGI:107655

Gene Summary

Name:

interferon gamma receptor 1

Synonyms:

Ifgr, IFN-gammaR, IFN-gamma R, CD119, Nktar, Ifngr

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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
preweaning lethality, incomplete penetrance	Ifngr1^em1(IMPC)Mbp	HOM	Early adult	0.00
cataract	Ifngr1^em1(IMPC)Mbp	HOM	Early adult	9.95×10^-05
abnormal vitreous body morphology	Ifngr1^em1(IMPC)Mbp	HOM	Early adult	8.56×10^-05
abnormal skin morphology	Ifngr1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Ifngr1^em1(IMPC)Mbp	HOM	Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Human diseases caused by Ifngr1 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 Ifngr1 (4 diseases)
Human diseases predicted to be associated with Ifngr1 (1169 diseases)

The table below shows human diseases associated to Ifngr1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Helicobacter Pylori Infection, Susceptibility To	Helicobacter pylori infection	OMIM:600263
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Immunodeficiency 27A	Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi...	OMIM:209950
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Meningitis, Infectious encephalitis, Acne, R...	ORPHA:117

The table below shows human diseases predicted to be associated to Ifngr1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Recurrent respiratory infections, Chronic decreased circulating ...	OMIM:613495
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections	OMIM:242870
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Helicobacter Pylori Infection, Susceptibility To	Helicobacter pylori infection	OMIM:600263
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ...	ORPHA:183675
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Immunodeficiency 24	Decreased circulating IgG level, Lymphoproliferative disorder, Recurrent viral infections, Severe...	OMIM:615897
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Autoimmunity, Recurrent infections, Recurrent infection of the ...	OMIM:137100
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Immunodeficiency, Common Variable, 2	Impaired T cell function, Autoimmunity, Recurrent pneumonia, Lymphoma, Recurrent bacterial infect...	OMIM:240500
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Autoimmuni...	OMIM:609529
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Abnormal morphology of female inter...	OMIM:193670
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive...	OMIM:615559
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections...	OMIM:613493
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe...	OMIM:608106
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ...	OMIM:613500
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections	OMIM:608957
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,...	OMIM:608184
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Immunodeficiency 18	Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre...	OMIM:615615
Immunodeficiency 67	Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportuni...	ORPHA:275
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233710
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo...	OMIM:308240
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233690
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent respiratory infections, Lymphoproliferative disorder, Persistent CMV viremia, B-cell ly...	OMIM:300853
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy...	OMIM:613953
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased alpha-globulin, Increased circulating antibody level, Recurrent infections	OMIM:235900
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf...	OMIM:613502
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections	OMIM:114580
Complement Component 8 Deficiency, Type I	Meningitis, Decreased circulating complement C8 concentration, Systemic lupus erythematosus	OMIM:613790
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Inc...	ORPHA:100024
Complement Component C1R/C1S Deficiency	Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis	OMIM:216950
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Autoimmune thrombocyt...	OMIM:619220
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level	OMIM:616911
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig...	OMIM:300636
Osteoarthritis Susceptibility 3	Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c...	OMIM:607850
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med...	ORPHA:572
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Extracranial Carotid Artery Aneurysm	Autoimmunity, Subarachnoid hemorrhage, Extrapulmonary tuberculosis, Severe infection, Vasculitis,...	ORPHA:494424
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec...	ORPHA:276
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent viral infections, Squamous cell carcinoma, Increased circulating IgG level, Disseminate...	OMIM:243700
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Recurrent bacterial inf...	OMIM:613779
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:306400
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf...	OMIM:612692
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level	OMIM:146830
Cernunnos-Xlf Deficiency	Recurrent viral infections, Recurrent bacterial infections, Autoimmunity, Decreased circulating a...	ORPHA:169079
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiecta...	OMIM:607594
Selective Igm Deficiency	Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella...	ORPHA:331235
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis	OMIM:608805
Immunodeficiency 62	Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir...	OMIM:618459
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis	OMIM:615269
Brucellosis	Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,...	ORPHA:1304
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos...	ORPHA:331206
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Increased circulating IgG level, Inflammation of the large intestine, Inc...	ORPHA:98813
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu...	OMIM:614699
Melioidosis	Shock, Foot osteomyelitis, Brain abscess, Unusual skin infection, Liver abscess, Pneumonia, Lung ...	ORPHA:31202
Extensor Tendons Of Finger Anomalies	Multiple lipomas, Limitation of joint mobility, Osteoporosis, Camptodactyly of finger	ORPHA:3294
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Glycoprotein Storage Disease	Gout	OMIM:232900
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C...	ORPHA:54251
Igg4-Related Kidney Disease	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,...	ORPHA:449395
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:289390
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C...	OMIM:618048
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati...	OMIM:300988
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Sepsis, Abnormal intrahepatic bile duc...	ORPHA:480520
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia	OMIM:613606
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu...	OMIM:301082
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, B-cell lymphoma, Increased circulating IgA level, Autoimmune thrombo...	OMIM:618534
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections, Ch...	OMIM:613496
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
C1Q Deficiency 1	Systemic lupus erythematosus, Autoimmunity, Decreased circulating complement factor I concentrati...	OMIM:613652
Pulmonary Arteriovenous Malformation	Brain abscess, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Heart ...	ORPHA:2038
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan...	OMIM:618204
Lymphoproliferative Syndrome 3	Lymphoproliferative disorder, Severe varicella zoster infection, Hodgkin lymphoma, Decreased circ...	OMIM:618261
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, B-cell lymphoma, Persistent CMV viremia, Autoimmunity, Splenomegaly, Recurrent upper...	OMIM:616005
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Liver abscess, Severe pe...	ORPHA:678
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Immunodeficiency 25	Recurrent herpes, Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circula...	OMIM:610163
Immunodeficiency 20	Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se...	OMIM:615707
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Recurrent bacterial infections, Decreased circulating antibody level	OMIM:616873
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjunctivitis...	ORPHA:533
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Re...	OMIM:269840
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Purine Nucleoside Phosphorylase Deficiency	Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Otitis me...	OMIM:613179
Chronic Granulomatous Disease	Recurrent respiratory infections, Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of ...	ORPHA:379
Immunodeficiency 95	Recurrent respiratory infections, Decreased circulating IgG3 level, Increased circulating IgG3 le...	OMIM:619773
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Recurrent upper...	OMIM:613101
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Osteoporosis, Gout, Increased LDL cholesterol concentration, Type II diabet...	OMIM:610947
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections	OMIM:607624
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, H...	OMIM:614470
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula...	ORPHA:2688
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Ging...	OMIM:228600
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Osteoporosis, Elevated circulating creatine kinase concentration	ORPHA:408
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Premature Ovarian Failure 2B	Osteoporosis, Delayed puberty	OMIM:300604
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia...	OMIM:617514
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp...	ORPHA:169154
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis, Delayed puberty	OMIM:615271
Immunodeficiency 14B, Autosomal Recessive	Candida esophagitis, Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent ...	OMIM:619281
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Autoimmunity, Severe varicella zoster infection, Splenomegaly, Lymphoma,...	ORPHA:397596
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Autoimmunity, Recurrent opportunistic infections, Recurrent upper respiratory tract infections, I...	ORPHA:277
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ...	OMIM:619707
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Winchester Syndrome	Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis	OMIM:277950
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Recurrent infections	OMIM:606445
Pgm3-Cdg	Rheumatoid factor positive, Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased...	ORPHA:443811
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia	ORPHA:1802
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	ORPHA:50809
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Hepatomegaly, Elevated circulating creatine kinase concentration, Osteoporosis, Thr...	OMIM:614727
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infect...	OMIM:300635
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc...	ORPHA:83471
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ...	ORPHA:3243
Melorheostosis With Osteopoikilosis	Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Hepatic cysts, A...	ORPHA:284
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H...	ORPHA:911
Masp2 Deficiency	Complement deficiency, Recurrent pneumonia, Systemic lupus erythematosus	OMIM:613791
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Immunodeficiency 110 With Lymphoproliferation	Recurrent viral infections, Sepsis, Neutropenia, Disseminated molluscum contagiosum, Bronchiectas...	OMIM:614868
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection...	OMIM:202700
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:158061
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Osteoporosis	Osteoporosis	OMIM:166710
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur...	OMIM:614493
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Immunodeficiency 15B	Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Monocytosis, Decr...	OMIM:615592
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections	OMIM:616941
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Congestive heart failure, Leukocytosi...	ORPHA:67
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Osteoporosis	ORPHA:2787
Immunodeficiency 44	Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG level, Post-vac...	OMIM:616636
Indolent Systemic Mastocytosis	Hepatomegaly, Hematological neoplasm, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased prop...	ORPHA:98848
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatomegaly, Hepatocellular carcinoma, Hyperlipidemia, Osteoporosis, Irritability, P...	ORPHA:369
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu...	OMIM:615214
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Recurrent herpes, Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneum...	ORPHA:169160
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Aplastic anemia, Severe varicella zoste...	OMIM:615122
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal...	ORPHA:232
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Ab...	ORPHA:2410
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al...	OMIM:245480
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections	OMIM:610798
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis	OMIM:609655
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S...	OMIM:620282
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Diabetes mellitus, Osteoporosis, Delayed thelarche, Hyperinsulinemic hypoglycemia, ...	OMIM:616033
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Elevated hepatic transaminase, Hepatomegaly, Hyposp...	OMIM:301045
Immunodeficiency, Common Variable, 10	Recurrent oral herpes, Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tr...	OMIM:615577
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Osteoporosis, Cirrhosis, Neonata...	ORPHA:79301
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Recurrent urinary tract infections, Recurrent respiratory infections, Hepatomegaly, ...	OMIM:620210
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis	OMIM:619549
Postinfectious Vasculitis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Severe varicel...	ORPHA:48435
Immunodeficiency 23	Rheumatoid factor positive, Recurrent staphylococcal infections, Severe varicella zoster infectio...	OMIM:615816
Immunoglobulin Kappa Light Chain Deficiency	Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level	OMIM:614102
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia...	OMIM:618495
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific...	OMIM:617765
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Immunodeficiency 11A	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod...	OMIM:615206
Radiation Proctitis	Abnormal vascular morphology, Abnormal gastrointestinal vascular morphology, Sepsis, Hematochezia...	ORPHA:70475
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Hepatomegaly	ORPHA:2204
Autosomal Recessive Spastic Paraplegia Type 71	Abnormal myelination	ORPHA:401840
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os...	OMIM:105835
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Adrenal hypopla...	OMIM:617053
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Male hypogonadism, Hypothyroidism, Osteoporosis	OMIM:618625
Hjv Or Hamp-Related Hemochromatosis	Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,...	ORPHA:79230
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi...	OMIM:606367
Immunodeficiency 12	Abnormal lymphocyte count, Recurrent viral infections, Osteoporosis, Recurrent bacterial infectio...	OMIM:615468
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, B-cell lymphoma, A...	OMIM:102700
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist	ORPHA:97332
Niemann-Pick Disease, Type A	Recurrent respiratory infections, Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Spleno...	OMIM:257200
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec...	OMIM:147060
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Wide anterior fontanel, Increased circulating IgE l...	OMIM:617241
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral...	ORPHA:217390
Adult Acute Respiratory Distress Syndrome	Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Sepsis, Abnormal...	ORPHA:70578
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko...	ORPHA:98850
Familial Hyperprolactinemia	Osteopenia, Female hypogonadism, Osteoporosis	ORPHA:397685
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Osteoporosis	OMIM:233300
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Multiple lipomas, Hemangioma, Lipoma, Calvarial hyperostos...	OMIM:176920
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In...	OMIM:601859
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Recurrent viral infections, Periodontitis, Neutropenia, Myelodysplasia, Recurren...	ORPHA:486
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ...	ORPHA:436159
Immunodeficiency 37	Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent...	OMIM:616098
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Diffuse alveolar ...	OMIM:616050
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections	OMIM:618987
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Decreased serum iron, Abnorma...	OMIM:212050
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Recurrent pneumonia, Decreased propor...	OMIM:619824
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Arthritis, T lympho...	OMIM:601457
Acute Lung Injury	Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Elevated...	ORPHA:178320
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Immunodeficiency 46	Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased...	OMIM:616740
Nocardiosis	Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, P...	ORPHA:31204
Ataxia-Telangiectasia	Elevated hepatic transaminase, Recurrent respiratory infections, Lymphopenia, Telangiectasia of t...	ORPHA:100
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve...	OMIM:300291
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Neutrope...	OMIM:601495
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Protrusio acetabuli, Autoimmunity, Limitation of joi...	ORPHA:2619
Sialidosis Type 2	Splenomegaly, Flexion contracture, Osteoporosis, Hepatomegaly	ORPHA:87876
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Osteoporosis	ORPHA:2958
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr...	OMIM:614069
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Neoplasm, Hypoca...	ORPHA:172
Whim Syndrome	Sinusitis, Severe periodontitis, Lymphadenitis, Sepsis, Abnormal neutrophil morphology, Papilloma...	ORPHA:51636
Immunodeficiency 32B	Recurrent respiratory infections, Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,...	OMIM:226990
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Insulin Autoimmune Syndrome	Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu...	ORPHA:411593
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, He...	OMIM:616100
Wiskott-Aldrich Syndrome	Recurrent herpes, Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Sepsis, I...	OMIM:301000
Classic Galactosemia	Hepatomegaly, Decreased serum insulin-like growth factor 1, Abnormal erythrocyte enzyme level, Ja...	ORPHA:79239
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c...	OMIM:619693
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Osteoporosis, Hypogonadism, Absence of pubertal development	OMIM:615267
Trichomegaly	Cataract	OMIM:190330
Immunodeficiency 43	Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa...	OMIM:241600
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Pauci-Immune Glomerulonephritis	Glomerulonephritis, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivi...	ORPHA:93126
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar...	ORPHA:77296
Prieto Syndrome	Osteoporosis	OMIM:309610
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis	ORPHA:2786
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,...	OMIM:618282
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Myelodysplasia, Recurrent viral infections, Neutropenia, Recurren...	OMIM:614172
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk...	OMIM:616576
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty	OMIM:615270
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas...	OMIM:618108
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Recurrent infections, Anemia, Leukopeni...	OMIM:615285
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom...	ORPHA:444463
Idiopathic Hypercalciuria	Abnormal circulating calcium concentration, Osteopenia, Osteoporosis	ORPHA:2197
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Depressi...	OMIM:219080
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion of class-...	OMIM:615767
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Autoimmunity, Recurrent viral infections, Recurrent my...	ORPHA:169090
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin co...	OMIM:235200
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Reticular Dysgenesis	Sepsis, Impaired T cell function, Lack of T cell function	OMIM:267500
Preeclampsia	Elevated hepatic transaminase, Helicobacter pylori infection, Autoimmunity, Elevated circulating ...	ORPHA:275555
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Decreased skull ossification, Hypocalcemia	OMIM:602361
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti...	OMIM:610475
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Osteoporosis, Macrovesicular hepatic steatosis	OMIM:618234
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased circul...	ORPHA:33355
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co...	OMIM:208250
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Os...	ORPHA:98849
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:603909
Mycetoma	Recurrent bacterial skin infections, Osteomyelitis, Bone cyst, Osteoporosis, Abnormality of the l...	ORPHA:2583
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Abnormal lymphocyte proliferation, Elevated circulating C-reactive protein co...	OMIM:619573
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Diabetes mellitus, Adrenal hyperplasia, Osteoporosis, Depression, Increased circulati...	OMIM:615830
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Hepatocellular carcinoma, Uveitis, Increased circulating IgG level, C...	ORPHA:3261
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Partial IgA deficiency, Recurrent viral infections, Acute otitis media, T lymphocytopenia, Decrea...	ORPHA:35078
Immunodeficiency 56	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis...	OMIM:615207
Immunodeficiency 96	Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Recurrent ...	OMIM:619774
Perrault Syndrome 1	Increased circulating gonadotropin level, Osteoporosis	OMIM:233400
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD...	OMIM:619846
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Arteria lusoria, Recurrent aspiration pneumonia, Psoriasiform dermati...	ORPHA:221139
Juvenile Paget Disease	Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hyperuricemia, Coarse metaphyseal trabec...	ORPHA:2801
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost...	OMIM:610489
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill...	ORPHA:79124
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Skin rash, Autoimmunity, Meningitis, Splenomegaly, Lymphoma, Uveitis,...	ORPHA:36412
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Isch...	ORPHA:679
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Recurrent upper r...	OMIM:615952
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Bone Marrow Failure Syndrome 6	Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co...	OMIM:618849
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Myelodysplasia, Neutropenia	OMIM:610738
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Inflammatory abnormality of the skin, Vasculitis in the skin, Ab...	ORPHA:90159
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Autoimmunity, Decreased specific pneumococcal antibody level	OMIM:617006
Propionic Acidemia	Hepatomegaly, Pancytopenia, Thrombocytopenia, Osteoporosis, Hyperammonemia, Hyperglycinemia, Neut...	OMIM:606054
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Camptodactyly of finger, Osteoporosis	ORPHA:48431
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating antibody level, Hypocystinemia, Decreased serum ...	OMIM:617744
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Oropharyngeal squamous cell carcinoma, T lymphocytopenia, Autoimmune thrombocytopenia...	ORPHA:391487
Ck Syndrome	Irritability, Abnormal cortical bone morphology, Joint hypermobility	OMIM:300831
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Thrombo...	ORPHA:47
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Pericardial lymphangiectasia, Osteoporosis, Pulmonary lymphangiectasia, Camptodactyly, Intestinal...	OMIM:616006
Specific Granule Deficiency 2	Absent neutrophil specific granules, Myelodysplasia, Thrombocytopenia, Recurrent pneumonia, Sepsi...	OMIM:617475
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Hypogonadism, Transient hypogammaglobulinemia of infancy, Recurrent infections	OMIM:251240
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibo...	OMIM:618394
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Fractures of the long bones, Osteoporosis	ORPHA:319195
Common Variable Immunodeficiency	Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Aut...	ORPHA:1572
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Cryptorchidism, Recurrent infections, Agammaglobulinemia, Decreased circulating anti...	OMIM:616910
Immunodeficiency 22	Pericarditis, Abscess, Autoimmunity, Thrombocytopenia, Recurrent upper respiratory tract infectio...	OMIM:615758
Prolidase Deficiency	Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Thrombocytop...	OMIM:170100
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy...	ORPHA:85435
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Myositis, Lymphopenia, Skin rash, Rheumatoid factor positive, E...	OMIM:615934
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ...	OMIM:300755
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Lymphopenia, Eczema, Oligoarthritis, Persistent EBV viremia, De...	OMIM:619510
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Warburg Micro Syndrome 1	Osteoporosis, Joint hypermobility	OMIM:600118
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce...	OMIM:617638
Neuronal Intestinal Pseudoobstruction	Patent ductus arteriosus, Recurrent infections, Decreased circulating antibody level	ORPHA:99811
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope...	OMIM:618986
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ...	ORPHA:189427
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Abnormal circulating calcium concentration, Multiple prenatal fractures, Red...	OMIM:619795
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Isosexual precocious puberty, Osteoporosis, Increased susceptibility to...	ORPHA:2788
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Decreased circ...	OMIM:610984
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L...	OMIM:612840
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Premature Aging Syndrome, Okamoto Type	Neoplasm, Diabetes mellitus, Osteoporosis, Osteosarcoma	OMIM:601811
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Neoplasm of the pancreas, Multiple joint contractures, Hypergonadotropic hypogonadism...	ORPHA:2959
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Eczema, Thrombocytopenia, Decreased circulating antibody level,...	OMIM:618116
Urban-Rogers-Meyer Syndrome	Recurrent fractures, Camptodactyly of finger, Increased circulating IgE level, Osteoporosis, Hypo...	ORPHA:3409
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi...	OMIM:600785
Bloom Syndrome	Recurrent herpes, Severe varicella zoster infection, Uveitis, Neoplasm, Neoplasm of the breast, O...	ORPHA:125
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged n...	OMIM:619256
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mine...	OMIM:277700
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis...	OMIM:614700
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Abnormalit...	ORPHA:2169
Cystic Echinococcosis	Abnormal peritoneum morphology, Abnormality of the testis size, Elevated gamma-glutamyltransferas...	ORPHA:400
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Lymphoma, Osteoporosis, Thyroiditis, Rickets, Depression, Iron deficiency anem...	OMIM:212750
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Autoimmunity, Paraproteinemia, Elevated circulating cre...	ORPHA:329918
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentratio...	OMIM:613327
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Antineutrophil antib...	OMIM:301078
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond...	ORPHA:1416
Q Fever	Rheumatoid factor positive, Abnormal left ventricular function, Abnormality of the liver, Cholecy...	ORPHA:781
Igg4-Related Aortitis	Increased inflammatory response, Thoracic aortic aneurysm, Autoimmunity, Increased circulating Ig...	ORPHA:449400
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Osteoporosis	ORPHA:71267
Galactosemia Iv	Cataract	OMIM:618881
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro...	OMIM:619752
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Lupus anticoagulant, Hashimoto...	OMIM:615688
Pyle Disease	Limited elbow extension, Thin bony cortex, Reduced bone mineral density	OMIM:265900
Ovarian Dysgenesis 8	Elevated circulating luteinizing hormone level, Osteoporosis, Decreased serum estradiol, Elevated...	OMIM:618187
Immunodeficiency 92	Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Cholangitis, Pneumonia, Persistent CMV viremi...	OMIM:619652
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Vasculitis, Increased circulating ...	ORPHA:37748
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma...	ORPHA:48377
Coats Disease	Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Spider hemangioma, Fulminant hepatitis, Increa...	ORPHA:2137
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower limbs	ORPHA:882
Takayasu Arteritis	Arteritis	OMIM:207600
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Sple...	OMIM:603554
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Elevated circulating creatine kinase concent...	OMIM:615895
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Elevated circulating C-reactive prot...	OMIM:116920
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Lim...	ORPHA:2796
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Depress...	OMIM:615954
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Nasu-Hakola Disease	Bone cyst, Limitation of joint mobility, Acute leukemia, Reduced bone mineral density, Irritability	ORPHA:2770
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ...	ORPHA:99879
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis, Small pituitary gland	OMIM:614880
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis, Diabetes mellitus, Hypogonadotropic hypogonadism, Absence of pubertal development	OMIM:610628
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemi...	ORPHA:171
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia, Osteopenia, Increased insulin like growth factor binding protein acid l...	OMIM:619489
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Autoimmunity, Glomerulonephritis, Synovitis, Arthritis, Decreased circulating compleme...	ORPHA:567544
Temporal Arteritis	Retinal arteritis	OMIM:187360
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr...	ORPHA:85410
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Hemangiomatosis, Lymphangioma, Osteolysis involving bones of the upper...	ORPHA:73
Hall-Riggs Syndrome	Osteoporosis	OMIM:234250
Thymoma	Myositis, Aplastic anemia, Abnormal lymphocyte proliferation, Pure red cell aplasia, Anti-acetylc...	ORPHA:99867
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Prima...	ORPHA:227990
Immunodeficiency 10	Recurrent bacterial infections, Autoimmune hemolytic anemia, Kaposi's sarcoma, Recurrent infections	OMIM:612783
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Myelodysplasia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, In...	OMIM:127550
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudohypoparathyro...	OMIM:612462
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Antinuclear antibody positiv...	OMIM:620321
Bruck Syndrome 1	Joint laxity, Hip contracture, Ankle flexion contracture, Osteoporosis, Elbow flexion contracture...	OMIM:259450
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Recurrent infections, Increased mean corpuscular vol...	OMIM:612562
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypoproteinemia, Pancytopenia, Hypertriglyceridemia, Skin rash, Hepatomegaly, Eleva...	OMIM:603553
Pseudopseudohypoparathyroidism	Osteoporosis, Pseudohypoparathyroidism	OMIM:612463
Cranioectodermal Dysplasia	Joint hyperflexibility, Osteoporosis, Craniosynostosis	ORPHA:1515
Cerebrooculofacioskeletal Syndrome 1	Flexion contracture, Osteoporosis, Elbow flexion contracture, Recurrent pneumonia, Knee flexion c...	OMIM:214150
Felty Syndrome	Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal...	ORPHA:47612
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ...	ORPHA:264580
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Roifman Syndrome	Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eczema, Eosinophilia, Recurrent pneu...	ORPHA:353298
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections	ORPHA:2643
Metatropic Dysplasia	Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon...	ORPHA:2635
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Aut...	ORPHA:227982
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Tularemia	Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Leukocytosis, Thr...	ORPHA:3392
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Osteoporosis, Male hypogonadism, Joint con...	OMIM:615381
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Hepatic fibrosis, Bone marrow hypocellul...	OMIM:613989
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, Pneumonia, Eosinophilia, Genital ulcers, Splenomegaly, Incre...	OMIM:602450
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility	ORPHA:166277
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Generalized osteoporosis	OMIM:613849
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia	OMIM:612287
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal...	ORPHA:167
Estrogen Resistance Syndrome	Osteopenia, Increased circulating gonadotropin level, Absence of secondary sex characteristics, H...	ORPHA:785
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Limitation of joint mobility, Osteoporosis, Hyperhomocystinemia, Depression, Hypermethioninemia, ...	OMIM:236200
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormo...	OMIM:103580
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Infantile Systemic Hyalinosis	Osteopenia, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joint stiffness, Osteopor...	ORPHA:2176
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration	OMIM:614292
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru...	OMIM:211600
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Recurrent pneumonia, De...	OMIM:619750
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:617974
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Emotional lability, Localized osteoporosis, Irritability	ORPHA:199354
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Osteop...	OMIM:232220
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal a...	OMIM:612541
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Osteoporosis	ORPHA:529665
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Cataract, Optic atrophy, Retinal pigment epithelial atr...	OMIM:143200
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Bronchiectasis, Decreased c...	OMIM:618131
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Recurrent urinary tract infections, Hepatic steatosis, Hepatomegaly, Acute panc...	OMIM:619487
Xp21 Deletion Syndrome	Joint laxity, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine ...	ORPHA:261476
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hypogonadotropic hypogonadism, Osteoporosis	OMIM:614838
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphoc...	OMIM:619164
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Hepatomegaly, Craniosynostosis, Limited elbow movement, Decreased proportion of CD8-...	ORPHA:508533
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	ORPHA:79240
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume...	OMIM:611590
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ...	ORPHA:2235
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia	OMIM:612286
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreas...	OMIM:603585
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Hepatomegaly, Osteoporosis, Rickets	OMIM:560000
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Sepsis, ...	ORPHA:37042
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Cataract	OMIM:613801
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Osteoporosis, Synostosis of carpal bones	ORPHA:93351
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Elevated circulating phytanic acid concentration, Osteoporosis, Hypocholesterolemia	OMIM:266510
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Menkes Disease	Joint laxity, Decreased circulating ceruloplasmin concentration, Osteoporosis	OMIM:309400
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Immunodeficiency 27A	Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi...	OMIM:209950
Werner Syndrome	Renal neoplasm, Increased bone mineral density, Acral lentiginous melanoma, Joint stiffness, Oste...	ORPHA:902
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Gastrointestinal inflammation, Abnormal intrahepatic bile duct mor...	ORPHA:186
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Osteoporosis, Hepatomegaly	OMIM:601979
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Thrombocytosis, Pulmonary embolism, Decreased circulating antibody level, Recurrent...	OMIM:226300
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Rhyns Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Oste...	OMIM:602152
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,...	OMIM:608233
Grant Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi...	OMIM:615607
Mccune-Albright Syndrome	Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Hepatitis, Increased cir...	ORPHA:562
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t...	ORPHA:811
Primary Intestinal Lymphangiectasia	Lymphopenia, Peritoneal effusion, Disseminated cutaneous warts, Cryptococcal meningitis, Decrease...	ORPHA:90362
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Recurrent fractures	OMIM:126550
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Thrombocyto...	OMIM:613990
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Macrocephaly/Autism Syndrome	Hepatomegaly, Dilation of Virchow-Robin spaces, Penile freckling, Splenomegaly, Recurrent infecti...	OMIM:605309
Functioning Gonadotropic Adenoma	Osteopenia, Decreased response to growth hormone stimulation test, Isosexual precocious puberty, ...	ORPHA:91348
Vici Syndrome	Decreased circulating IgG level, Recurrent respiratory infections, Lymphopenia, Elevated circulat...	OMIM:242840
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Premature thelarche, Osteolysis involving bones of the upper limbs, Osteoporosis, Ost...	ORPHA:371428
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity	ORPHA:90654
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis...	ORPHA:69126
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia...	OMIM:617591
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Autoimmunity, Myelodysplasia, Bone marrow hypocellularity, Multiple linea...	ORPHA:98827
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, T...	OMIM:222700
Autosomal Recessive Spastic Paraplegia Type 57	Abnormal myelination	ORPHA:431329
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Myelodysplasia, Portal hypertension, Anemia, Squamous cell carcinoma of the skin, Typ...	OMIM:620365
Bruck Syndrome	Arthrogryposis multiplex congenita, Osteoporosis, Recurrent fractures, Joint stiffness	ORPHA:2771
Autosomal Recessive Spastic Paraplegia Type 69	Abnormal myelination	ORPHA:401830
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Cataract	OMIM:273680
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Generalized joint laxity, Absence...	ORPHA:432
Purine Nucleoside Phosphorylase Deficiency	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoim...	ORPHA:760
Cowden Syndrome 1	Goiter, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Decreased circulating antibody...	OMIM:158350
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ...	ORPHA:157215
Tenosynovial Giant Cell Tumor	Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness	ORPHA:66627
Vulvovaginal Gingival Syndrome	Abnormality of female external genitalia, Abnormality of tumor necrosis factor secretion	ORPHA:83453
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Camptodactyly of toe, Oste...	ORPHA:2848
Idiopathic Juvenile Osteoporosis	Osteoporosis, Recurrent fractures	ORPHA:85193
Amish Lethal Microcephaly	Hepatomegaly, Limitation of joint mobility, Osteoporosis, Irritability, Decreased skull ossification	ORPHA:99742
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,...	OMIM:109130
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy	OMIM:180104
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess	ORPHA:89937
Weismann-Netter Syndrome	Abnormality of the thyroid gland, Abnormal cortical bone morphology, Anemia	ORPHA:3344
Pneumocystosis	Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Acute infectious pneumonia, Intersti...	ORPHA:723
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sp...	OMIM:264700
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1...	ORPHA:77293
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:1525
Retinitis Pigmentosa 84	Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma	OMIM:618220
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Autosomal Recessive Spastic Paraplegia Type 67	Abnormal myelination	ORPHA:401820
Secondary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating IgG1 level, B-cell lymphoma, Autoimmunity, Right ventricular f...	ORPHA:90363
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Progressive Pseudorheumatoid Dysplasia	Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteoporosis, Joint contracture of the ...	OMIM:208230
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis,...	ORPHA:79277
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Rickets	OMIM:619232
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia	OMIM:618107
19P13.3 Microduplication Syndrome	Precocious puberty, Irritability, Osteoporosis	ORPHA:447980
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata	OMIM:193230
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia	OMIM:193100
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho...	OMIM:607765
Retinitis Pigmentosa 4	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy	OMIM:613731
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sp...	OMIM:277440
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia	ORPHA:2582
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Decreased circulating parathyroid hormone level, Abnormal circulating calciu...	OMIM:241530
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash	OMIM:609939
Odontochondrodysplasia 1	Delayed ossification of carpal bones, Recurrent respiratory infections, Osteoporosis, Joint hyper...	OMIM:184260
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Osteopenia, Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Bone marr...	OMIM:614742
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Osteoporosis, Hepatic fibrosis, Bone marrow hypocellularity, Throm...	OMIM:224230
Primary Erythromelalgia	Recurrent respiratory infections, Leukemia, Vasculitis	ORPHA:90026
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Anemia, Dec...	OMIM:612301
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce...	OMIM:618935
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibilit...	ORPHA:289157
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypogonadism, Neonatal hyperbilirubinemia, Osteoporosis	ORPHA:73272
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem...	OMIM:600081
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Elevated circulating creatine kinase concentration, Shoulder flexion contracture...	OMIM:255800
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis	ORPHA:79099
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Hypocalcemia, Hypo...	ORPHA:93160
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Spondylo-Ocular Syndrome	Joint hyperflexibility, Osteoporosis	ORPHA:85194
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Perrault Syndrome 4	Increased circulating gonadotropin level, Hypoplasia of the ovary, Decreased serum estradiol, Ost...	OMIM:615300
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Generalized bone demineralization, Macronodular cirrhosis, Decreased ...	OMIM:215250
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity...	OMIM:617718
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ...	OMIM:614856
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Osteoporosis, Increased circulating ACTH level, Hypokalemia, Emotional lability	OMIM:219090
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt...	ORPHA:77259
Lambert Syndrome	Hypospadias, Jaundice, Cholestasis, Decreased circulating antibody level, Branchial anomaly, Intr...	ORPHA:1296
Pontocerebellar Hypoplasia, Type 2E	Irritability, Flexion contracture, Osteoporosis	OMIM:615851
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Os...	OMIM:239000
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Osteopenia, Pancytopenia, Portal hypertension, Hepatic fibrosis, Bone marrow hypocellularity, Abn...	OMIM:617341
Dyskeratosis Congenita	Neoplasm of the pancreas, Recurrent respiratory infections, Hepatomegaly, Diabetes mellitus, Recu...	ORPHA:1775
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l...	OMIM:619381
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Visceral angiomatosis, Ovarian neoplasm, Reduced bone mineral density, Neopl...	ORPHA:137608
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat...	ORPHA:562639
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, T lymphocytopenia, Hypoplasia of the thymus, Decreased ci...	OMIM:208900
Immunodeficiency 31C	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anem...	OMIM:614162
Wilson Disease	Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalbuminemia, Hepatic steat...	OMIM:277900
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Flexion contracture, Osteoporo...	ORPHA:333
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Sepsis, Mele...	ORPHA:319218
Simple Cryoglobulinemia	Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Myocardial infarction, Parap...	ORPHA:91139
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Elevated circu...	OMIM:614034
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Fibrous Dysplasia Of Bone	Thyroid carcinoma, Neoplasm of the breast, Patchy reduction of bone mineral density, Cortical irr...	ORPHA:249
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility	ORPHA:1486
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Hypercholanemia, Familial 1	Rickets, Increased serum bile acid concentration	OMIM:607748
Ruijs-Aalfs Syndrome	Elbow flexion contracture, Hypogonadism, Osteoporosis, Hepatocellular carcinoma	OMIM:616200
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Anemia, Irre...	ORPHA:79259
Immunodeficiency 19	Recurrent respiratory infections, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis...	OMIM:615617
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Minimal change glomerulonephritis, Decreased proportion of...	ORPHA:1830
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Recurrent viral ...	ORPHA:293978
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, ...	ORPHA:79303
Netherton Syndrome	Recurrent respiratory infections, Recurrent skin infections, Allergic rhinitis, Eczema, Increased...	OMIM:256500
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells, Hemato...	ORPHA:217260
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Hypophosphatemia	OMIM:146350
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility	ORPHA:1901
Schimke Immunoosseous Dysplasia	Pancytopenia, Transient ischemic attack, Abnormal immunoglobulin level, Bilateral cryptorchidism,...	OMIM:242900
Osteogenesis Imperfecta, Type Xxi	Osteoporosis, Recurrent fractures, Joint hypermobility	OMIM:619131
Cataract 47	Microcornea, Cataract	OMIM:612018
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmunity, Severe...	OMIM:615387
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Free Sialic Acid Storage Disease	Hepatomegaly, Splenomegaly, Recurrent respiratory infections, Reduced bone mineral density	ORPHA:834
Systemic Lupus Erythematosus	Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv...	OMIM:152700
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Recurre...	OMIM:248500
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex	OMIM:617952
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb...	ORPHA:507
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv...	ORPHA:2968
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Cantu Syndrome	Osteoporosis	OMIM:239850
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Splenomegaly, Lymphoma, N...	ORPHA:3162
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jaundice, Priapis...	OMIM:603903
Geroderma Osteodysplastica	Joint hyperflexibility, Osteoporosis, Recurrent fractures, Abnormal bone ossification	ORPHA:2078
Hypophosphatemic Rickets, X-Linked Recessive	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Interstitial Lung Disease 2	Pulmonary arterial hypertension, Alveolar cell carcinoma, Increased circulating antibody level, C...	OMIM:178500
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Hereditary Folate Malabsorption	Recurrent respiratory infections, Recurrent urinary tract infections, Pancytopenia, Eosinophilia,...	ORPHA:90045
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu...	OMIM:214500
Sneddon Syndrome	Decreased circulating total IgM, Antiphospholipid antibody positivity	OMIM:182410
Trigeminal Neuralgia	CNS demyelination, Allodynia, Peripheral demyelination	ORPHA:221091
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Recurrent respiratory infections, Diabetes mellitus, Hypogonadotropic hypogonadism, D...	ORPHA:98754
Congenital Myopathy 22A, Classic	Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contracture...	OMIM:620351
Hutchinson-Gilford Progeria Syndrome	Osteolysis, Generalized osteoporosis	OMIM:176670
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide anterior fontanel, Sepsis, Hyperbilirubinemia, Elevated circulating long chain fatty acid co...	OMIM:614886
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Elbow flexion contracture, Knee flexion contracture, Sterile arthritis, Arthritis, Colitis,...	OMIM:604416
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Recurrent respiratory infections, Premature pubarche, Hypogonadotropic hypogonadism, ...	ORPHA:398079
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu...	OMIM:259600
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm o...	ORPHA:97289
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Fanconi Renotubular Syndrome 2	Osteopenia, Osteomalacia, Recurrent fractures, Rickets, Elevated circulating parathyroid hormone ...	OMIM:613388
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Recurrent respiratory infections, Abnormality of the pancreas, Reduced bone mineral density, Agam...	ORPHA:935
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Epistaxis, Abnormality of neutrophi...	ORPHA:33226
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased...	OMIM:231070
Desbuquois Dysplasia 1	Joint laxity, Osteoarthritis, Osteoporosis, Advanced ossification of carpal bones, Advanced tarsa...	OMIM:251450
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Thrombocytopenia, Osteoporosis, Increased susceptibility to fractures, Bone marrow hy...	OMIM:612199
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Overlap Myositis	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Autoimmunity, ...	ORPHA:206572
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Recurrent respiratory infections, Diabetes mellitus, Hypogonadotropic hypogonadism, D...	ORPHA:98793
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega...	OMIM:260920
Prolactinoma	Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormo...	ORPHA:2965
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Cervical C2/C3 vertebral fusi...	OMIM:618000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Recurrent respiratory infections, Diabetes mellitus, Hypogonadotropic hypogonadism, D...	ORPHA:177904
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Recurrent respiratory infections, Diabetes mellitus, Hypogonadotropic hypogonadism, D...	ORPHA:177901
Primary Ciliary Dyskinesia	Male infertility, Recurrent sinopulmonary infections, Abnormal sperm motility, Female infertility...	ORPHA:244
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, T lymphocytopenia...	OMIM:615518
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype...	OMIM:612714
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	ORPHA:95619
Idiopathic Bronchiectasis	Myocardial infarction, Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infecti...	ORPHA:60033
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Boutonneuse Fever	Elevated hepatic transaminase, Skin rash, Maculopapular exanthema, Vasculitis, Increased circulat...	ORPHA:83313
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Insulin-resistant diabetes mellitus, Osteoporosis, Ivory epiphyses of the phalanges...	OMIM:226980
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Recurrent bacterial skin infections, Abnormal circulating porphyrin...	ORPHA:95159
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-reactive p...	OMIM:612852
Spondyloenchondrodysplasia	Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response ...	ORPHA:1855
Xq28 (MECP2) duplication	Recurrent respiratory infections, Decreased circulating IgA level	DECIPHER:45
Lowry-Maclean Syndrome	Osteopenia, Abnormality of the abdominal organs, Osteoporosis, Craniosynostosis	ORPHA:2409
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy	OMIM:613835
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteoporosis, Osteolytic defects of the phalanges of th...	OMIM:259100
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level, Vasculitis in the skin	ORPHA:90000
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El...	ORPHA:289548
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Nestor-Guillermo Progeria Syndrome	Decreased serum leptin, Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosi...	OMIM:614008
Dyskeratosis Congenita, Digenic	Recurrent infections, Decreased circulating total IgM, Basal cell carcinoma, Melanoma, Squamous c...	OMIM:620040
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Recurrent infections, Decreased circulating antibody level, Erythroderma, Lymphopen...	OMIM:617425
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Recurrent bacterial infect...	OMIM:241410
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Rickets	OMIM:602722
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal circulating C-reactive protein concentration, Limitation of joint mobility, Abnormality ...	ORPHA:1159
Netherton Syndrome	Recurrent respiratory infections, Skin rash, Eczema, Increased circulating IgE level, Decreased c...	ORPHA:634
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating lute...	ORPHA:168558
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Thin bony cortex	OMIM:230600
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Hypercalcemia, Renal hamartoma, Testicular neoplasm, Fibroma, Primary ...	ORPHA:99880
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Cystinosis	Portal hypertension, Nephrogenic diabetes insipidus, Rickets, Hypophosphatemia, Hypokalemia, Dela...	ORPHA:213
Prader-Willi Syndrome	Osteopenia, Recurrent respiratory infections, Diabetes mellitus, Decreased response to growth hor...	ORPHA:739
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Osteoporosis, Lambdoidal craniosynostosis	OMIM:615398
Hyperparathyroidism 4	Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:617343
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Abnormal myelination	ORPHA:85179
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Autoimmunity, Recurrent infections	ORPHA:704
Alopecia Antibody Deficiency	Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:1006
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Hypercalcemia, Renal hamartoma, Testicular neoplasm, Fibroma, Primary ...	ORPHA:143
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus...	OMIM:618213
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Elevated circu...	OMIM:307800
Rothmund-Thomson Syndrome	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Myelodysplasia, Inc...	ORPHA:2909
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Glycogen Storage Disease Ia	Hepatomegaly, Hepatocellular carcinoma, Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, Delaye...	OMIM:232200
Lathosterolosis	Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S...	OMIM:607330
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Autoimmunity, Hypersplenis...	ORPHA:228426
Antisynthetase Syndrome	Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th...	ORPHA:81
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Osteoporosis	OMIM:617190
Aregenerative Anemia	Pancytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Reticulocytopeni...	ORPHA:101096
Mucopolysaccharidosis, Type Iva	Joint laxity, Hepatomegaly, Recurrent upper respiratory tract infections, Osteoporosis, Recurrent...	OMIM:253000
Alg12-Cdg	Sepsis, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hyponatremia, Hypospadias, Partial abse...	ORPHA:79324
Spondyloepiphyseal Dysplasia Tarda	Abnormally ossified vertebrae, Increased bone mineral density, Osteoarthritis of the distal inter...	ORPHA:93284
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Bloom Syndrome	Hepatic steatosis, Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidism, Lymph...	OMIM:210900
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Rickets, Elevated circulating parath...	OMIM:612089
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Wide anterior ...	OMIM:259420
Cystic Fibrosis	Osteopenia, Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkhol...	ORPHA:586
Omenn Syndrome	Hepatomegaly, Pneumonia, Eosinophilia, Autoimmunity, Splenomegaly, Leukocytosis, Lymphoma, Sepsis...	ORPHA:39041
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Iron deficiency anemia, Exocrine pancreatic insufficiency	ORPHA:309031
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup...	ORPHA:99103
Chromomycosis	Keratitis, Squamous cell carcinoma, Recurrent bacterial infections, Keratoconjunctivitis sicca, M...	ORPHA:182
Rothmund-Thomson Syndrome Type 1	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Myelodysplasia, Fin...	ORPHA:221008
Rheumatoid Arthritis	Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join...	OMIM:180300
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	ORPHA:90003
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Intracranial hemorrhage, In...	ORPHA:906
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Joint hypermobility, Osteoporosis, Delayed puberty, Bi...	OMIM:619718
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroidism, Anemia	OMIM:244460
Autoimmune Hypoparathyroidism	Prolonged QT interval, Autoimmunity, Autoimmune hypoparathyroidism, Autoimmune antibody positivit...	ORPHA:36913
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin leve...	ORPHA:2232
Magel2-Related Prader-Willi-Like Syndrome	Hypothalamic luteinizing hormone-releasing hormone deficiency, Osteopenia, Recurrent respiratory ...	ORPHA:398069
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture	OMIM:614438
Gamma-Heavy Chain Disease	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Skin rash, Autoimmun...	ORPHA:100026
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia	OMIM:267200
Icf Syndrome	Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve...	ORPHA:2268
Mucopolysaccharidosis, Type Ivb	Joint laxity, Hepatomegaly, Joint stiffness, Recurrent upper respiratory tract infections, Osteop...	OMIM:253010
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Aromatase Deficiency	Osteopenia, Hypergonadotropic hypogonadism, Hyperlipidemia, Delayed epiphyseal ossification, Oste...	ORPHA:91
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Limited elbow movement, Osteoporosis, Reduced bone mineral density...	ORPHA:94068
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Recurrent infections, Contracture of the proximal interphalangeal joint of the 2nd finger, Osteop...	OMIM:300998
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev...	OMIM:154230
Amed Syndrome, Digenic	Acute myeloid leukemia, Myelodysplasia, Thrombocytopenia, Hypoplasia of the uterus, Leukopenia, B...	OMIM:619151
Macs Syndrome	Joint laxity, Hypergonadotropic hypogonadism, Joint hypermobility, Osteoporosis	OMIM:613075
Dent Disease 1	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Melnick-Needles Syndrome	Craniofacial hyperostosis, Recurrent respiratory infections, Osteolytic defects of the phalanges ...	ORPHA:2484
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis, Delayed puberty	ORPHA:2326
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Osteochondroma, Hip contracture, Generalized lymphadenopathy, B-cell lymphoma, Ankle flexion cont...	OMIM:620232
Complete Androgen Insensitivity Syndrome	Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula...	ORPHA:99429
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Rickets	OMIM:615605
Lymphangiectasia, Intestinal	Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal hypoproteinemia	OMIM:152800
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Exostoses of th...	ORPHA:85188
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex	OMIM:619638
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Depression, Multiple l...	OMIM:600740
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Rothmund-Thomson Syndrome Type 2	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Myelodysplasia, Lym...	ORPHA:221016
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Pyoderma,...	OMIM:242700
Insulin-Resistance Syndrome Type B	Osteoarthritis, Increased circulating IgG level, Leukopenia, Hypoalbuminemia, Abnormal salivary g...	ORPHA:2298
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Vertical Talus, Congenital	Arthritis	OMIM:192950
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Recurrent urinary tract infections, Sinusitis, Glioma, Dysgammaglobu...	OMIM:251260
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:617099
Coccidioidomycosis	Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor...	ORPHA:228123
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, ...	ORPHA:86816
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Astrocytoma, Hypertriglyceridemia, Autoimmunity, Abnormality of...	ORPHA:79086
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri...	ORPHA:85408
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Osteoporosis, Recurrent fractures, Reduced bone mineral density	OMIM:616507
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ...	OMIM:612260
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Encephalitis Lethargica	Autoimmunity, Increased circulating antibody level, Bradycardia, Recurrent viral infections	ORPHA:83600
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy...	ORPHA:91347
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Hypogonadism, Arthrogryposi...	ORPHA:2671
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom...	OMIM:120200
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Osteoporosis, Finger joint hypermobility	ORPHA:363705
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Cerebrotendinous Xanthomatosis	Cholelithiasis, Abnormal circulating cholesterol concentration, Osteoporosis	OMIM:213700
Prader-Willi Syndrome	Osteopenia, Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased response t...	OMIM:176270
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Depression, Anemia, Iron d...	ORPHA:79408
Cleidocranial Dysplasia	Recurrent respiratory infections, Recurrent fractures, Osteoporosis, Decreased skull ossification...	ORPHA:1452
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Distal joint laxity, Generalized joint laxity, Recurrent pneumonia, Osteoporosis, Elb...	ORPHA:1900
Griscelli Syndrome	Encephalocele, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decre...	ORPHA:381
Hajdu-Cheney Syndrome	Osteopenia, Recurrent respiratory infections, Hepatomegaly, Recurrent fractures, Splenomegaly, Os...	ORPHA:955
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Sagittal ...	OMIM:610199
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Oste...	OMIM:305000
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Neoplasm of the b...	ORPHA:79474
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Hepatocellular carcinoma, Rick...	ORPHA:2088
46,Xx Gonadal Dysgenesis	Osteopenia, Streak ovary, Increased circulating gonadotropin level, Reduced bone mineral density,...	ORPHA:243
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ...	ORPHA:3206
Syndromic Diarrhea	Aortic regurgitation, Lymphopenia, Hepatomegaly, Gastritis, Increased mean platelet volume, Splen...	ORPHA:84064
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Joint swelling, Juvenile rheumatoid arth...	ORPHA:85414
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Normocytic anemia, Macroc...	ORPHA:199299
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex	OMIM:309583
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Chilblains, Vasculitis, He...	OMIM:615846
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi...	ORPHA:85436
Autosomal Dominant Progressive External Ophthalmoplegia	Diabetes mellitus, Hyperthyroidism, Elevated circulating creatine kinase concentration, Osteoporo...	ORPHA:254892
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second...	ORPHA:90796
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Osteopo...	OMIM:307030
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Diabetes mellitus, Hypouricemia, Rickets, Hypophosphatemia	OMIM:616026
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Ambiguous genitalia, male, Male hypogonadi...	ORPHA:90793
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Brain abscess, Increased circulating interleukin 6 concentration, Hypertensive cris...	ORPHA:544482
Richards-Rundle Syndrome	Joint stiffness, Hypergonadotropic hypogonadism, Reduced bone mineral density	ORPHA:1399
Fanconi Renotubular Syndrome 1	Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia	OMIM:134600
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma	OMIM:212550
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Recurrent fractures, Craniosynostosis, Joint hypermobility, Osteoporosis, Elbow flexi...	OMIM:245600
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hy...	OMIM:620005
17Q11 Microdeletion Syndrome	Osteopenia, Multiple mucosal neuromas, Brain neoplasm, Elevated circulating parathyroid hormone l...	ORPHA:97685
Coxoauricular Syndrome	Reduced bone mineral density	ORPHA:1508
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Premature Aging Syndrome, Penttinen Type	Recurrent fractures, Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis...	OMIM:601812
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Rec...	ORPHA:420741
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
X Small Rings	Joint laxity, Osteoporosis, Reduced bone mineral density	ORPHA:96201
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Decreased circulating antibody level	ORPHA:1116
Brittle Cornea Syndrome	Joint hyperflexibility, Osteoporosis, Camptodactyly, Increased susceptibility to fractures	ORPHA:90354
Stuve-Wiedemann Syndrome 1	Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Recurrent...	OMIM:601559
Occipital Horn Syndrome	Joint laxity, Decreased circulating ceruloplasmin concentration, Decreased circulating copper con...	OMIM:304150
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Reduced level of N-acetylglucosaminyl...	ORPHA:79329
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Occipital Horn Syndrome	Osteopenia, Recurrent urinary tract infections, Osteomalacia, Jaundice, Osteoporosis, Osteolysis,...	ORPHA:198
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Autoimmune thrombocytopenia, Hypothyroidism, Lymphadenopathy, T...	OMIM:607944
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
46,Xy Partial Gonadal Dysgenesis	Streak ovary, Hypergonadotropic hypogonadism, Nephroblastoma, Elevated circulating luteinizing ho...	ORPHA:251510
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Tbck-Related Intellectual Disability Syndrome	Hyperthyroidism, Decreased response to growth hormone stimulation test, Osteoporosis, Central adr...	ORPHA:488632
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Increased hepatic echogenici...	OMIM:619525
Schwartz-Jampel Syndrome	Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Elevated circulat...	ORPHA:800
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Recurrent urinary tract infections, Portal hypertension, ...	OMIM:613658
Adrenomyodystrophy	Hepatic steatosis, Primary adrenal insufficiency, Reduced bone mineral density	ORPHA:977
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Abnormal myelination	ORPHA:352682
Cantú Syndrome	Osteoporosis	ORPHA:1517
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma...	ORPHA:99826
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An...	ORPHA:64744
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Pancreatic steatosis,...	OMIM:617052
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Angiostrongyliasis	Increased circulating IgA level, Unusual CNS infection, Hypereosinophilia, Increased circulating ...	ORPHA:74
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par...	OMIM:617994
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating IgA level, Peritonitis, Vasculit...	ORPHA:343
Dent Disease	Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre...	ORPHA:1652
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Myelodysplasia, Decreased circulating antibody level, Bone marrow hypocellularity, ...	OMIM:619767
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C...	ORPHA:900
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Severe viral i...	ORPHA:319251
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Ambiguous genitalia, Clitoral hypertrophy, Hypospadias, Male i...	ORPHA:90797
Multiple Myeloma	Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr...	ORPHA:29073
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Menkes Disease	Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Sepsis, Joint hyperflexibili...	ORPHA:565
Osteootohepatoenteric Syndrome	Recurrent fractures, Microvesicular hepatic steatosis, Cholestasis, Reduced bone mineral density,...	OMIM:619377
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Renal neoplasm, Multiple joint contractures, Recurrent fractures, Craniosynostosis, O...	ORPHA:536467
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti...	ORPHA:2686
Microphthalmia, Syndromic 9	Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Increased circulating NT-proBNP concentr...	ORPHA:85443
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased circulatin...	OMIM:606056
Fanconi-Bickel Syndrome	Hepatomegaly, Hypouricemia, Osteomalacia, Intrahepatic cholestasis, Rickets, Hypophosphatemia, Hy...	OMIM:227810
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Recurrent otitis media	OMIM:618948
Frank-Ter Haar Syndrome	Osteopenia, Wide anterior fontanel, Osteoporosis, Camptodactyly, Cortical irregularity	OMIM:249420
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Exudative Vitreoretinopathy 6	Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,...	OMIM:616468
Congenital Disorder Of Deglycosylation 1	Recurrent respiratory infections, Hepatomegaly, Elevated circulating alpha-fetoprotein concentrat...	OMIM:615273
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Cholelithiasis, Decreased circ...	OMIM:240300
Rothmund-Thomson Syndrome, Type 2	Osteoporosis, Squamous cell carcinoma, Basal cell carcinoma, Hypogonadism, Annular pancreas, Oste...	OMIM:268400
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Sepsis, Decreased circulating antibody level, Recurrent infections, Sq...	ORPHA:79396
Severe Generalized Junctional Epidermolysis Bullosa	Recurrent urinary tract infections, Osteoporosis, Sepsis, Abnormal blood ion concentration, Squam...	ORPHA:79404
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ...	OMIM:273250
Tempi Syndrome	Telangiectasia, Intracranial hemorrhage, Increased circulating IgG level, Increased hematocrit, H...	ORPHA:284227
Dpagt1-Cdg	Hepatomegaly, Flexion contracture, Osteoporosis, Camptodactyly, Emotional blunting, Anemia	ORPHA:86309
Cartilage-Hair Hypoplasia	Joint laxity, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Cong...	OMIM:250250
Classic Homocystinuria	Hepatomegaly, Osteoporosis, Recurrent fractures, Joint stiffness	ORPHA:394
Glass Syndrome	Generalized osteoporosis, Camptodactyly	OMIM:612313
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypochromic anemia, Abnormality of neutrophils, Reduced bone mineral density	ORPHA:2720
Aniridia 3	Aniridia, Cataract	OMIM:617142
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces...	ORPHA:89936
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Recurrent upper respiratory tract infections,...	OMIM:618183
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Cranioectodermal Dysplasia 1	Joint laxity, Recurrent respiratory infections, Hepatomegaly, Sagittal craniosynostosis, Malforma...	OMIM:218330
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatomegaly, Hypospadias, Increased mean platelet volume, Large placenta, ...	OMIM:222470
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Autoimmuni...	ORPHA:449432
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Recurrent pneumonia, Osteoporosis, Joint laxity	OMIM:225400
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Osteoporosis, Osteolytic defects of the phalanges of the hand, Foot acr...	OMIM:102500
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Cerebrotendinous Xanthomatosis	Osteopenia, Osteoporosis, Depression, Increased susceptibility to fractures, Prolonged neonatal j...	ORPHA:909
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level, Recurrent infections, Neoplasm of the skin, Neutropenia, Lymphop...	OMIM:616395
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Recurrent infect...	OMIM:614576
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Generalized joint laxity, Recurrent pneumonia, Decreased calvarial ossi...	OMIM:613848
Familial Osteodysplasia, Anderson Type	Abnormal cortical bone morphology, Recurrent fractures, Hyperuricemia, Increased susceptibility t...	ORPHA:2769
Osteogenesis Imperfecta	Osteopenia, Recurrent fractures, Fractures of the long bones, Osteoarthritis, Flexion contracture...	ORPHA:666
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein c...	ORPHA:50918
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsul...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsul...	ORPHA:99228
Monosomy X	Osteopenia, High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsul...	ORPHA:99226
Turner Syndrome	Osteopenia, High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsul...	ORPHA:881
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Sepsis, Arthri...	ORPHA:247353
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine...	ORPHA:18
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, Septate vagina, Ut...	ORPHA:2237
Cockayne Syndrome B	Hepatomegaly, Splenomegaly, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the ph...	OMIM:133540
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Hypoglossia With Situs Inversus	Asplenia, Polysplenia	OMIM:612776
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Agenesis of pineal gland, Multiple joint contractures, Joint hypermobility, Sagittal ...	ORPHA:536471
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fractures, Pathologic ...	OMIM:259770
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Orbital ...	OMIM:112240
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatomegaly, Microvesicular hepatic steatosis, Micronodular cirrhosis, Jaundice, Osteoporosis, B...	OMIM:203700
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Flexion contracture, Osteoporosis, Elevated circulating creatine kinase concentration	ORPHA:365
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to...	ORPHA:79443
Legionnaires Disease	Hyponatremia, Splenomegaly, Recurrent pharyngitis, Jaundice, Sepsis, Hepatitis, Lymphadenopathy, ...	ORPHA:549
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Satoyoshi Syndrome	Hypoplasia of the uterus, Mildly elevated creatine kinase, Amenorrhea	OMIM:600705
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia...	ORPHA:221
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Recurrent fractures, Osteoporosis, Camptodactyly	ORPHA:3063
Hennekam Syndrome	Benign neoplasm of the central nervous system, Recurrent respiratory infections, Camptodactyly of...	ORPHA:2136
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Spina bifida, Facial capillary hemangioma, Seborrheic dermatitis, Thrombocytopenia,...	OMIM:274000
Gaucher Disease Type 3	Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Splenomegaly, Anemia, Increased cir...	ORPHA:77261
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Ambiguous genitalia, female, Abnormal ovarian physiology, Hyponatremia, Clito...	ORPHA:90794
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ...	OMIM:618165
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis...	ORPHA:263479
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Antiphospholipid antibody positivity, Cardiac shunt, Elevated circulating C-reacti...	ORPHA:70591
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic mucocutaneo...	OMIM:269200
Hereditary Orotic Aciduria	Recurrent respiratory infections, Impaired T cell function	ORPHA:30
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Joint laxity, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Osteoporosis...	OMIM:271640
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets, Abnormal circulat...	ORPHA:2636
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl...	ORPHA:2658
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Hyponatremia, Osteomalacia, Depression, Joint hyperflexibilit...	ORPHA:534
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Hypoplasia of the ...	ORPHA:436252
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Abnormality of the gallbladder, Osteoporosis, Abdominal situs i...	ORPHA:280
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomega...	ORPHA:667
Myasthenia Gravis	Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a...	ORPHA:589
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Decreased serum iron, Abnormality of the endocrine system, Precocious p...	ORPHA:438213
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Acne, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fall...	OMIM:158330
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Osteoporosis, Recurrent infections, Lower-limb joint contracture, Delayed puberty, Lipoma	ORPHA:459070
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:618078
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Decreased circulating antibody level, Hydrocele testis...	ORPHA:79330
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Fusariosis	Brain abscess, Osteomyelitis, Lung abscess, Hematological neoplasm, Abnormality of the spleen, Pe...	ORPHA:228119
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Müllerian Aplasia And Hyperandrogenism	Acne, Primary amenorrhea, Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of th...	ORPHA:247768
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Osteoporosis, Joint hypermobility	ORPHA:536545
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Kawasaki Disease	Pericarditis, Skin rash, Congestive heart failure, Myocarditis, Vasculitis, Meningitis, Hepatitis...	ORPHA:2331
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Oculodentodigital Dysplasia	Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger	ORPHA:2710
Poems Syndrome	Lymphoproliferative disorder, Thrombocytosis, Hypogonadism, Increased circulating antibody level,...	ORPHA:2905
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,...	OMIM:106210
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function, Recurrent candida infections	OMIM:201100
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating follicle stimulating hormone l...	OMIM:618117
Estrogen Resistance	Acne, Elevated alkaline phosphatase of bone origin, Primary amenorrhea, Polycystic ovaries, Hypop...	OMIM:615363
Autosomal Dominant Hypocalcemia	Reduced bone mineral density, Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotio...	ORPHA:428
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Diabetes mellitus, Splenomegaly, Rickets, Reduced blood urea nitrogen...	OMIM:219800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Myelodysplasia, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia...	ORPHA:508542
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Lipoma, Pancreatitis, Hypoc...	ORPHA:405
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, Hypokalemia, Hypoph...	ORPHA:411629
Oculoauricular Syndrome	Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste...	OMIM:612109
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Pseudoaminopterin Syndrome	Limited elbow movement, Sagittal craniosynostosis, Asplenia, Patchy reduction of bone mineral den...	ORPHA:221120
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Limited elbow movement, Osteoporosis, Joint hypermobility	ORPHA:558
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Abnormal myelination	ORPHA:289266
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Recurrent urinary tract infections, Cryptorchidism, Ovarian cyst, ...	OMIM:614527
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:275350
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating follicle stimulating hormone l...	OMIM:617690
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Aspartylglucosaminuria	Recurrent respiratory infections, Hepatomegaly, Joint stiffness, Splenomegaly, Arthritis, Abnorma...	ORPHA:93
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo...	OMIM:614841
Complex Regional Pain Syndrome	Allodynia	ORPHA:83452
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Osteogenesis Imperfecta, Type Iv	Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Recurrent fract...	OMIM:166220
Say-Barber-Miller Syndrome	Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Decreased c...	ORPHA:3132
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo...	OMIM:614837
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Williams Syndrome	Osteopenia, Joint laxity, Increased bone mineral density, Recurrent urinary tract infections, Hyp...	ORPHA:904
Meckel Syndrome 14	Occipital encephalocele, Tricuspid regurgitation, Mitral regurgitation, Hepatic fibrosis, Aplasia...	OMIM:619879
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Meningitis, Infectious encephalitis, Acne, R...	ORPHA:117
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Breast carcinoma, Hepatosplen...	ORPHA:1333
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Primrose Syndrome	Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Joint hypermobility, Elevated...	OMIM:259050
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Lumbar Syndrome	Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Micrope...	ORPHA:83628
Immunodeficiency 55	Absent natural killer cells, Myelodysplasia, Recurrent infections, Lymphadenopathy, Neutropenia, ...	OMIM:617827
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Hypospadias, Abnormality of alkaline phosphatase level, Elevated c...	OMIM:137920
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus	OMIM:601076
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness	OMIM:277600
Mosaic Trisomy 9	Asplenia, Limitation of joint mobility, Abnormal liver lobulation, Camptodactyly of finger	ORPHA:99776
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cryptorchidism, Cheilitis, Uve...	ORPHA:2273
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Recurrent urinary tract infections, Diabetes mellitus, Hypercalcemia, P...	OMIM:194050
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Increased susceptibility to fractur...	ORPHA:3337
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal...	ORPHA:542323
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic regurgitation, Aortic valve stenosis, Increased circulating antibody level	OMIM:114065
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe generalized osteoporosis, Knee flexion contracture	OMIM:210730
Cardiofacioneurodevelopmental Syndrome	Asplenia, Abdominal situs inversus, Camptodactyly	OMIM:619123
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno...	ORPHA:284984
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Os...	OMIM:309000
Spondyloocular Syndrome	Osteopenia, Thin bony cortex	OMIM:605822
Lymphoid Interstitial Pneumonia	Skin rash, Autoimmunity, Eczema, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv...	ORPHA:79128
Seckel Syndrome 7	Hypoplasia of the uterus, Primary amenorrhea	OMIM:614851
Cardiac-Urogenital Syndrome	Bifid scrotum, Accessory spleen, Tachycardia, Ambiguous genitalia, Unilateral cryptorchidism, Cry...	OMIM:618280
Sweeney-Cox Syndrome	Asplenia, Wide anterior fontanel	OMIM:617746
Congenital Tricuspid Stenosis	Rheumatoid arthritis, Bacterial endocarditis	ORPHA:95459
Hydatidiform Mole	Menometrorrhagia, Enlarged uterus, Anemia	ORPHA:99927
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Abnormal myelination	OMIM:617333
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex	OMIM:612731
Ciliary Dyskinesia, Primary, 1	Asplenia, Recurrent bronchitis	OMIM:244400
Distal Deletion 19P	Umbilical hernia, Vaginal hernia, Decreased circulating antibody level	ORPHA:96129
Igg4-Related Retroperitoneal Fibrosis	Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular inflammatory infilt...	ORPHA:49041
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Anemia, Abnormality of humoral immunity, Recurrent Staphylococ...	ORPHA:642
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Hypogonadotropic hypogonadism, Elevated ci...	ORPHA:79318
Hereditary Xanthinuria	Arthropathy, Rheumatoid arthritis, Gout	ORPHA:3467
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog...	ORPHA:90695
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia, Tetralogy of Fallot, Aplasia of the uterus	ORPHA:3320
Loeys-Dietz Syndrome 2	Joint laxity, Craniosynostosis, Osteoporosis, Camptodactyly, Joint contracture of the hand	OMIM:610168
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ...	OMIM:146255
Weill-Marchesani Syndrome 2	Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex, Joint stiffness	OMIM:608328
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormal myelination	ORPHA:442835
Anterior Cutaneous Nerve Entrapment Syndrome	Allodynia	ORPHA:51890
Singleton-Merten Syndrome 1	Osteopenia, Recurrent respiratory infections, Osteoporosis, Osteolytic defects of the phalanges o...	OMIM:182250
Pelizaeus-Merzbacher Disease, Connatal Form	Cerebral hypomyelination, Abnormal myelination	ORPHA:280210
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Neurotrophic Keratopathy	Allodynia	ORPHA:137596
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Iridocyclitis, Splenomegaly, Enlarg...	OMIM:181000
Velocardiofacial Syndrome	Impaired T cell function, Recurrent infections	OMIM:192430
Loeys-Dietz Syndrome	Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Uterine rupture, Aortic dissection...	ORPHA:60030
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Thin bony cortex	OMIM:619727
Meckel Syndrome, Type 1	Accessory spleen, Camptodactyly of finger, Adrenal hypoplasia, Malformation of the hepatic ductal...	OMIM:249000
Limb-Mammary Syndrome	Psoriasiform dermatitis, Chronic irritative conjunctivitis, Absent nipple, Primary amenorrhea, Bi...	ORPHA:69085
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Developmental cataract	OMIM:620185
Ehlers-Danlos Syndrome, Vascular Type	Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism, Descending aort...	OMIM:130050
Woodhouse-Sakati Syndrome	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, H...	OMIM:241080
Coffin-Siris Syndrome 1	Recurrent respiratory infections, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Spina bi...	OMIM:135900
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ...	ORPHA:3464
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Ovotestis, Junctional ectopic tachycardia, Micropenis, Hypoplasia ...	OMIM:309801
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Vascular Ehlers-Danlos Syndrome	Osteoarthritis, Periodontitis, Uterine rupture, Internal hemorrhage, Peripheral arteriovenous fis...	ORPHA:286
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function, Recurrent viral infections	OMIM:176690
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Fanconi Anemia, Complementation Group L	Anemia, Micropenis, Bone marrow hypocellularity, Aplasia of the uterus	OMIM:614083
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Abnormal myelination	ORPHA:67045
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:609441
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Hypoplastic aortic arch, Aplasia of the vagina	ORPHA:457284
Orotic Aciduria	Impaired T cell function	OMIM:258900
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-...	ORPHA:91500
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract	ORPHA:637
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Myelomeningocele, Vesicova...	OMIM:258040
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Hyphema, Retinal arteritis, Panuveitis, Posterior uveitis	ORPHA:209959
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Block vertebrae, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia	OMIM:306955
Townes-Brocks Syndrome 2	Rectovaginal fistula, Spina bifida occulta, Hypospadias, Bifid uterus	OMIM:617466
Autosomal Dominant Dopa-Responsive Dystonia	Progressive flexion contractures, Rheumatoid arthritis	ORPHA:98808
Generalized Arterial Calcification Of Infancy	Osteomalacia, Adrenal calcification, Hepatic calcification, Abnormal calcification of the carpal ...	ORPHA:51608
Reynolds Syndrome	Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine...	OMIM:613471
Neuroocular Syndrome	Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ...	OMIM:619539
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Meningocele, Aplasia of the uterus	ORPHA:2879
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesi...	OMIM:201750
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplastic labia majora, Hypop...	OMIM:618419
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C...	ORPHA:564
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia	OMIM:619657
Neu-Laxova Syndrome 1	Spina bifida, Bifid uterus, Cryptorchidism, Patent ductus arteriosus, Transposition of the great ...	OMIM:256520
Wolf-Hirschhorn Syndrome	Accessory spleen, Hypospadias, Precocious puberty, Cryptorchidism, Biliary tract abnormality, Apl...	OMIM:194190
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus	ORPHA:1521
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Allodynia	OMIM:603041
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Mixed demyelinating and axonal polyneuropathy, Abnormal peripheral myelination, Abnormal myelination	ORPHA:466768
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,...	OMIM:300166
Exstrophy-Epispadias Complex	Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra...	ORPHA:322
Monosomy 18Q	Abnormal myelination	ORPHA:1600
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Flexion contracture, Decreased circulating antibody level, Recurrent infections, Recurr...	ORPHA:261537
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Annular pancreas, Pulmonary lymphangiectasia	OMIM:265380
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati...	ORPHA:572333
Benign Schwannoma	Allodynia	ORPHA:252164
Okamoto Syndrome	Splenomegaly, Aortic valve stenosis, Bifid uterus	ORPHA:2729
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Flexion contracture, Decreased circulating antibody level, Recurrent infections, Recurr...	ORPHA:261552
Tetraamelia Syndrome 1	Asplenia, Adrenal gland agenesis	OMIM:273395
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis...	OMIM:107480
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Bifid uterus, Anencephaly, Adrenal gland dysgenesis, Abnormal vagi...	OMIM:236680
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Patent ductus arteri...	OMIM:261540
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Delayed myelination, Abnormal myelination	ORPHA:404454
Mowat-Wilson Syndrome	Recurrent fractures, Asplenia, Flexion contracture, Decreased circulating antibody level, Recurre...	ORPHA:2152
Peters Plus Syndrome	Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hypoplasia of the uterus, Abnormal pulmona...	ORPHA:709
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Abdominal situs ambiguus, Abdominal situs inversus	OMIM:270100
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ...	OMIM:276820
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal myelination	ORPHA:309854
Cockayne Syndrome Type 3	Demyelinating peripheral neuropathy, Abnormal myelination	ORPHA:90324
Pallister-Killian Syndrome	Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Coarc...	OMIM:601803
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170
Degcags Syndrome	Abnormal myelination	OMIM:619488
Orofaciodigital Syndrome Type 14	Abnormal myelination	ORPHA:434179

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 Ifngr1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Ifngr1.

No publications found that use IMPC mice or data for Ifngr1.

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MGI Allele	Allele Type	Produced
Ifngr1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Ifngr1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ifngr1^em1(IMPC)Mbp	Exon Deletion	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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Gene: Ifngr1 MGI:107655

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

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X-ray

Human diseases caused by Ifngr1 mutations

Histopathology

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Access Data Release 20.1 Data