| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections |
OMIM:242870 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... |
OMIM:310350 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Abnormal T cell count, Abnormal B cell count, Recurrent respirato... |
OMIM:613495 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
| Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
| Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... |
OMIM:608957 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Immunodeficiency 84 |
|
Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... |
OMIM:619437 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... |
OMIM:616022 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis, ... |
OMIM:616126 |
| Tuftsin Deficiency |
|
Abnormality of the spleen, Recurrent infections |
OMIM:191150 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Immunodeficiency 112 |
|
Reduced natural killer cell count, Recurrent viral infections, Chronic mucocutaneous candidiasis,... |
OMIM:620449 |
| Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification, Diabetes mellitus |
OMIM:602475 |
| Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia, Recurrent bacterial infections |
ORPHA:86788 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Absent circulating B cells, Abnormal T cell morpholo... |
OMIM:613500 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bronchitis, Absent circulating B cells, Neutropenia, Abnormal T... |
OMIM:613501 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, Severe viral infection, Abnormal natural killer cell morphology, Recu... |
OMIM:615617 |
| Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Recurrent bacterial infections |
OMIM:300299 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu... |
OMIM:611521 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent viral infections, Pancytopenia, Recurrent fungal infections, B lymphocytopenia, Recurre... |
OMIM:616873 |
| Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Dec... |
OMIM:618204 |
| Immunodeficiency 51 |
|
Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent respiratory infections, Recurrent... |
OMIM:613953 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea... |
OMIM:613493 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... |
OMIM:613860 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Lymphopenia, Recurrent bacterial infections, Thrombocytopenia, B lymp... |
ORPHA:169079 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Recurrent bacterial infecti... |
OMIM:202700 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Flynn-Aird Syndrome |
|
Alopecia, Joint stiffness, Increased bone density with cystic changes, Alopecia of scalp, Dementi... |
OMIM:136300 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, Recurrent infections, Post-vaccination polio, B lymphocytopenia |
OMIM:616941 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... |
OMIM:245480 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Neutropenia, Abnormal T cell morphology, Recurrent b... |
OMIM:613502 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe... |
ORPHA:2688 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac... |
OMIM:614172 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:618806 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... |
OMIM:615518 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Recurrent in... |
OMIM:608184 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Abnormal T cell count, Transient neutropenia, Abnormal B cel... |
OMIM:607676 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... |
OMIM:615513 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia |
OMIM:618406 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, B lymphocytopenia, Abnormal T ... |
OMIM:612692 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Immunodeficiency 52 |
|
Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop... |
OMIM:617514 |
| Immunodeficiency 104 |
|
Chronic mucocutaneous candidiasis, Failure to thrive secondary to recurrent infections, Recurrent... |
OMIM:608971 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Lymphadenitis, Recurrent can... |
ORPHA:319552 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Lymphadenopathy, Recurrent bacterial infection... |
OMIM:605258 |
| Immunodeficiency, Common Variable, 1 |
|
Abnormal T cell count, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Recurrent bronc... |
OMIM:607594 |
| Trichodentoosseous Syndrome |
|
Abnormal hair morphology, Increased bone mineral density |
OMIM:190320 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Sepsis, ... |
ORPHA:276 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Combined Immunodeficiency, X-Linked |
|
Pneumocystis carinii pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cel... |
OMIM:312863 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
| Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Generalized lymphadenopathy, Recurrent mycobacterium avium co... |
OMIM:615978 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Phaeohyphomycosis, Abnormal proportion of CD8-positive ... |
OMIM:212050 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Immunodeficiency 61 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... |
OMIM:300310 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent viral infections, Lymphadenitis, Chronic mucocutane... |
ORPHA:911 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia, Persistent human papillomavirus infection, Cryptococcal meningitis |
OMIM:618309 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... |
OMIM:619164 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... |
ORPHA:2790 |
| Immunodeficiency, Common Variable, 2 |
|
Abnormal T cell count, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Follicular hype... |
OMIM:240500 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent ... |
ORPHA:572 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Lymphopenia, Splenomegaly, ... |
OMIM:616005 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infections, Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral in... |
ORPHA:83471 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone |
ORPHA:564003 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent gastroenteritis, Recurr... |
ORPHA:275 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... |
ORPHA:566943 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neutropenia |
OMIM:193670 |
| Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Abnormal B cell count, Recurrent bacterial infections, Recurrent respirato... |
OMIM:613496 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:3152 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Lymphadenopathy, Recurrent upper and lower respiratory tract infe... |
OMIM:608106 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... |
OMIM:607634 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Irritability |
OMIM:240800 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Sepsis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil anti... |
ORPHA:231154 |
| Melorheostosis |
|
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... |
ORPHA:2485 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Recurrent enteroviral infection... |
ORPHA:331206 |
| Mhc Class Ii Deficiency 1 |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... |
OMIM:209920 |
| Immunodeficiency 115 With Autoinflammation |
|
Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Decreased proportion of... |
OMIM:620632 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... |
ORPHA:411593 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Recurrent sinusitis, Onychomycosis, B l... |
ORPHA:217390 |
| Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
| Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
| Omenn Syndrome |
|
Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Hypoplasia of the thymu... |
OMIM:603554 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent viral infections, Aplastic anemia, Lymphopenia, Recurrent infection of the gastrointest... |
ORPHA:486 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Recurrent Burkholderia cepac... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Recurrent Burkholderia cepac... |
OMIM:233710 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Sepsis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocy... |
OMIM:612840 |
| Immunodeficiency 68 |
|
Sepsis, Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, Recurrent ... |
OMIM:612260 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Recurrent viral infections, Recurrent pneumonia, Cutaneous abs... |
OMIM:243700 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Sepsis, Lymphadenitis,... |
OMIM:618986 |
| Intermediate Osteopetrosis |
|
Cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, Abnormality of bone min... |
ORPHA:210110 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... |
OMIM:166600 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Recurrent Burkholderia cepac... |
OMIM:233690 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... |
OMIM:242700 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent candida infec... |
ORPHA:169154 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Recurrent otitis media, Recurrent sinusiti... |
OMIM:601495 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent mycobacterial infections, Invasive fungal infection, Chronic mucocutaneous candidiasis,... |
ORPHA:98813 |
| Selective Igm Deficiency |
|
Lymphadenitis, Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess,... |
ORPHA:331235 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Absence of lymph node germinal... |
ORPHA:277 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, De... |
OMIM:307200 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive secondary to recurrent infections, Recurrent opportunistic infections, B lympho... |
OMIM:601457 |
| Immunodeficiency 105 |
|
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... |
OMIM:619924 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
| Immunodeficiency 10 |
|
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Splenome... |
OMIM:612783 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent viral infections, Severe varicell... |
OMIM:606367 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, Recurrent f... |
ORPHA:169090 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial infections, Absent neutr... |
OMIM:617475 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... |
OMIM:144750 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Recurrent viral infections, Lymphadenopathy, Thrombocytop... |
OMIM:618048 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Leukocyte Adhesion Deficiency, Type I |
|
Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent gram-negative bacterial infections, Re... |
OMIM:116920 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
| Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
| Severe Combined Immunodeficiency, X-Linked |
|
Recurrent pneumonia, Hypoplasia of the thymus, Recurrent fungal infections, Impaired lymphocyte t... |
OMIM:300400 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Lymphopenia, Decreased proportion of CD4-posi... |
ORPHA:443811 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent urinary tract... |
OMIM:613179 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Tiger tail banding, Slow-growing hair, Brittle hair, Increased bone min... |
OMIM:616943 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Recurrent otitis media,... |
OMIM:615607 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Osteopetrosis, Recurrent fractures |
OMIM:611490 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Lymphadenitis, Recurrent Burkhol... |
OMIM:306400 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, Recurrent respiratory inf... |
OMIM:618108 |
| Pseudohypoparathyroidism Type 1B |
|
Depression, Increased bone density with cystic changes, Irritability, Increased bone mineral dens... |
ORPHA:94089 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Arthritis |
ORPHA:37748 |
| Osteogenesis Imperfecta, Type Xiii |
|
Long eyelashes, Recurrent fractures, Joint hypermobility, Generalized hirsutism, Limitation of kn... |
OMIM:614856 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Lymphopenia, ... |
OMIM:102700 |
| Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Abnormal lymphocyte... |
OMIM:615468 |
| Autoimmune Hypoparathyroidism |
|
Confusion, Increased bone mineral density, Depression, Irritability |
ORPHA:36913 |
| Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... |
ORPHA:90650 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... |
OMIM:610984 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pathologic fracture, Osteomyelitis, Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Cran... |
OMIM:259700 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... |
OMIM:619510 |
| Immunodeficiency 23 |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Lymph... |
OMIM:615816 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Recurrent upper respiratory tract infections, Absent natural killer cells, Recurrent otitis media... |
OMIM:600802 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Pneumocystis carinii pneumonia, Sepsis, Absence of lymph node germinal center, Splenomegaly, Ente... |
OMIM:308230 |
| Diastrophic Dysplasia |
|
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger |
ORPHA:628 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Lymphop... |
OMIM:612541 |
| Immunodeficiency 25 |
|
Recurrent pneumonia, Recurrent candida infections, Autoimmune hemolytic anemia, Eosinophilia, Rec... |
OMIM:610163 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent tonsillitis,... |
ORPHA:183675 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... |
ORPHA:93284 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hypertrichosis, Hy... |
OMIM:262190 |
| Albers-Schönberg Osteopetrosis |
|
Mandibular osteomyelitis, Osteomyelitis, Generalized osteosclerosis, Arthritis, Osteoarthritis, R... |
ORPHA:53 |
| Werner Syndrome |
|
Insulin resistance, Abnormal hair whorl, Premature graying of hair, Joint stiffness, Type II diab... |
ORPHA:902 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... |
ORPHA:85188 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Severe cytomegalovirus infection, Im... |
OMIM:619313 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Recurrent pneumonia, Enlarged platelet dense granules, Recurre... |
OMIM:608233 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification |
ORPHA:163649 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Curly hair |
ORPHA:85184 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Recurrent fractures, Increased b... |
ORPHA:1782 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pr... |
OMIM:112250 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Abnormal hair quantity |
ORPHA:3352 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent pneumonia, Recurrent viral infections, Absent natural killer cells, Lymphopenia, Hepato... |
ORPHA:35078 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Recurrent viral infections, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly... |
OMIM:620565 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Osteopetrosis, Decreased osteoclas... |
OMIM:259710 |
| Mirage Syndrome |
|
Sepsis, Recurrent urinary tract infections, Lymphopenia, Decreased testicular size, Leukopenia, C... |
OMIM:617053 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti... |
ORPHA:79124 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Mental deterioration, Craniofacial osteosclerosis, Increased skull ossification, Long eyelashes, ... |
OMIM:618476 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent systemic pyogeni... |
OMIM:214500 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Majeed Syndrome |
|
Osteomyelitis, Increased susceptibility to fractures, Synovitis, Increased bone mineral density, ... |
ORPHA:77297 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Recurrent viral infections, Recurrent urinary tract infections... |
ORPHA:221139 |
| Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Abnormality of neutrophil physiology, Hemophagocytosis, Abno... |
ORPHA:167 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Ankylosis, Osteoporosis, Recurrent fractures |
OMIM:239000 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Sepsis, Parotit... |
ORPHA:51636 |
| Agammaglobulinemia, X-Linked |
|
Recurrent pneumonia, Sepsis, Enteroviral dermatomyositis syndrome, Recurrent otitis media, Pyoder... |
OMIM:300755 |
| Poems Syndrome |
|
Sclerosis of foot bone, Sclerosis of hand bone, Hypertrichosis, Leukonychia, Sclerosis of skull b... |
ORPHA:2905 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... |
ORPHA:2780 |
| Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Congenital hypoparathyroidism, Recurrent bacterial infections |
OMIM:244460 |
| Shwachman-Diamond Syndrome |
|
Recurrent viral infections, Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil c... |
ORPHA:811 |
| Pycnodysostosis |
|
Coronal craniosynostosis, Increased susceptibility to fractures, Joint hypermobility, Generalized... |
ORPHA:763 |
| Atypical Werner Syndrome |
|
Limitation of joint mobility, Insulin-resistant diabetes mellitus, Sclerosis of hand bone, Abnorm... |
ORPHA:79474 |
| 12Q14 Microdeletion Syndrome |
|
Osteopoikilosis, Thick eyebrow, Diabetes mellitus, Synophrys |
ORPHA:94063 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ... |
ORPHA:289176 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture... |
OMIM:224300 |
| Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Cranial hyperostosis, Irritability, Osteopetrosis, Decreased osteoclast count, Increased bone min... |
OMIM:259720 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
| Schwartz-Jampel Syndrome |
|
Shoulder flexion contracture, Abnormal eyebrow morphology, Joint stiffness, Long eyelashes in irr... |
ORPHA:800 |
| Vici Syndrome |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, Lymphopenia, Leukopenia, Decreased... |
OMIM:242840 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Molluscum contagiosum, Severe cytomegalovirus infection, Aplasia of the eccrine sweat glands, Rec... |
OMIM:300291 |
| Immunodeficiency 87 And Autoimmunity |
|
Recurrent viral infections, Sepsis, Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 rati... |
OMIM:619573 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Osteopetrosis |
OMIM:618541 |
| Trichothiodystrophy |
|
Osteopenia, Tiger tail banding, Alopecia of scalp, Multiple joint contractures, Dystrophic finger... |
ORPHA:33364 |
| Camurati-Engelmann Disease |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Sclerosis of skull ba... |
OMIM:131300 |
| Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Splenomegaly, Lymphadenopathy, Meningitis |
ORPHA:36412 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
| Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis |
ORPHA:35107 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Leukocytosis, Splenomegaly, Recurrent bacterial infections, Lymphadenopathy, Anemia |
OMIM:615895 |
| Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Depression, Confusion, Irritability, Increased bone mineral density |
ORPHA:79444 |
| Pseudohypoparathyroidism Type 1A |
|
Ectopic ossification, Depression, Confusion, Irritability, Increased bone mineral density, Reduce... |
ORPHA:79443 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital hypoparathyroidism, Cryptorchid... |
OMIM:241410 |
| Gaucher Disease Type 3 |
|
Dementia, Increased bone mineral density, Increased susceptibility to fractures, Osteolysis |
ORPHA:77261 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m... |
ORPHA:2658 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Thrombocytopenia, Recurrent bacter... |
OMIM:300972 |
| Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Vacuolated lymphocytes, Splenomegaly |
OMIM:248500 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Camptodactyly of finger, Carpal synostosis, Increased bone mineral de... |
ORPHA:90652 |
| Raine Syndrome |
|
Increased bone mineral density, Arthrogryposis multiplex congenita, Subperiosteal bone formation,... |
OMIM:259775 |
| Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Polysplenia, Recurrent otitis media, Recurrent sinopulmonary ... |
ORPHA:244 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Rickets, Generalized osteosclerosis, Arthritis, Enthesitis, Cranios... |
ORPHA:89936 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis |
OMIM:259730 |
| Gaucher Disease |
|
Osteopenia, Depression, Osteolysis, Pathologic fracture, Osteomyelitis, Joint stiffness, Osteoart... |
ORPHA:355 |
| Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis,... |
ORPHA:2968 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteolysis, Osteomyelitis |
ORPHA:35687 |
| Patent Urachus |
|
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections |
ORPHA:431341 |
| Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Pancreatic fibrosis, Splenomegaly, Neutropenia |
OMIM:232220 |
| Postinfectious Vasculitis |
|
Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... |
ORPHA:48435 |
| Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Increased bone mineral density |
OMIM:127000 |
| Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
| Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Polycystic ovaries |
ORPHA:2176 |
| Desmosterolosis |
|
Joint contracture of the hand, Generalized osteosclerosis, Arthrogryposis multiplex congenita |
OMIM:602398 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Increased bone mineral density |
ORPHA:50945 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
| Sclerosteosis 1 |
|
Cortically dense long tubular bones, Cognitive impairment, Sclerotic scapulae, Facial palsy secon... |
OMIM:269500 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density |
OMIM:620558 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
| Cystic Fibrosis |
|
Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
| Williams Syndrome |
|
Synostosis of joints, Osteopenia, Depression, Joint stiffness, Type II diabetes mellitus, Joint h... |
ORPHA:904 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Recurrent bacterial infections, Polycystic ovaries, Anemia, Abnormal myeloid leukocyte morphology... |
ORPHA:79259 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Decreased response to growth hormone stimulation test, Leukopenia, Hepatospleno... |
ORPHA:470 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous abscess, Chronic muc... |
OMIM:147060 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Abnormality of hair texture, Craniosynostosis, Reduced bone mineral density, Recur... |
ORPHA:667 |
| Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Hypertrichosis, Sclerosis of skull base, Thickened cortex of lon... |
OMIM:269150 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Recurrent fractures |
ORPHA:2785 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent infections, Cryptorchidism, Recurrent respiratory infec... |
ORPHA:2273 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Abscess, Tooth abscess, Anemia, Recurrent Staphylococcus aureus infections, Aplasia of the sweat ... |
ORPHA:642 |
