Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Athrombia, Essential |
|
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... |
OMIM:209050 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... |
OMIM:310350 |
Glanzmann Thrombasthenia 2 |
|
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... |
OMIM:619267 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
Bleeding Disorder, Platelet-Type, 22 |
|
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... |
OMIM:618462 |
Bleeding Disorder, Platelet-Type, 18 |
|
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... |
OMIM:615888 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... |
OMIM:308220 |
Platelet Signal Processing Defect |
|
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... |
OMIM:173590 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... |
OMIM:273800 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Von Willebrand Disease, Platelet-Type |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Bleeding Disorder, Platelet-Type, 11 |
|
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... |
OMIM:614201 |
Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... |
OMIM:619271 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Bleeding Disorder, Platelet-Type, 8 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... |
OMIM:609821 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level |
OMIM:619549 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
Thrombocytopenia 9 |
|
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:620478 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... |
OMIM:614009 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:608404 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... |
OMIM:124900 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... |
OMIM:611521 |
Bleeding Disorder, Platelet-Type, 25 |
|
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... |
OMIM:620486 |
Bernard-Soulier Syndrome |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platelets, Pr... |
OMIM:231200 |
Congenital Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... |
OMIM:245480 |
Bleeding Disorder, Platelet-Type, 15 |
|
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... |
OMIM:615193 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... |
OMIM:613495 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... |
OMIM:616022 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem... |
OMIM:605735 |
Glanzmann Thrombasthenia |
|
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... |
ORPHA:849 |
Von Willebrand Disease, Type 3 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... |
OMIM:277480 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... |
OMIM:187800 |
Tuftsin Deficiency |
|
Abnormality of the spleen, Recurrent infections |
OMIM:191150 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Giant platelets, Impaired ADP-induced plat... |
OMIM:155100 |
Quebec Platelet Disorder |
|
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi... |
OMIM:601709 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia, Recurrent bacterial infections |
ORPHA:86788 |
Immunodeficiency 31A |
|
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... |
OMIM:614892 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... |
OMIM:613494 |
Factor V Deficiency |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... |
OMIM:227400 |
Immunodeficiency 116 |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... |
OMIM:608957 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... |
OMIM:613500 |
Gray Platelet Syndrome |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Impaire... |
OMIM:139090 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Abnormal bleeding, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Prothrombin Deficiency, Congenital |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... |
OMIM:613679 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... |
OMIM:613501 |
Bleeding Disorder, Platelet-Type, 17 |
|
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... |
OMIM:187900 |
Hermansky-Pudlak Syndrome 7 |
|
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... |
OMIM:614076 |
Immunodeficiency 61 |
|
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... |
OMIM:300310 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... |
OMIM:613860 |
Von Willebrand Disease, Type 1 |
|
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... |
OMIM:193400 |
Immunodeficiency 84 |
|
Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... |
OMIM:619437 |
Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet... |
OMIM:617443 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis |
OMIM:616126 |
Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... |
OMIM:613493 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... |
ORPHA:465 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Gingival bleeding, Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction... |
OMIM:153670 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections, Neutropenia |
OMIM:617014 |
Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... |
OMIM:620449 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Epistaxis, Impaired collagen-induced platelet aggregation, Bruising susceptibility, Impaired arac... |
OMIM:601399 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio... |
OMIM:616873 |
Immunodeficiency 51 |
|
Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent respiratory infections, Recurrent... |
OMIM:613953 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Hermansky-Pudlak Syndrome 3 |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis, ... |
OMIM:614072 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Recurrent bacterial infections |
OMIM:300299 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Epistaxis, Bruising susceptibility, Reduced platelet alpha granules, Petechiae, Splenomegaly, Thr... |
OMIM:314050 |
Hemophilia B |
|
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... |
ORPHA:98879 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Abnormal bleeding, Prolonged bleeding time |
OMIM:185050 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... |
ORPHA:238459 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... |
OMIM:300636 |
Bernard-Soulier Syndrome |
|
Gingival bleeding, Gastrointestinal hemorrhage, Decreased platelet glycoprotein Ib-IX-V, Abnormal... |
ORPHA:274 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I |
ORPHA:488191 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ... |
OMIM:616941 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ... |
OMIM:608184 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe... |
ORPHA:2688 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Pancytopenia, Neutrophilia, Hepatomegaly, Jaundice, Tachycardia, Purpura, Diff... |
ORPHA:99827 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Hermansky-Pudlak Syndrome 5 |
|
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Thrombocytopenia, ... |
OMIM:614074 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Female infertility, Oocyte maturation arrest |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
Myh9-Related Disease |
|
Prolonged bleeding time, Bruising susceptibility, Giant platelets, Spontaneous, recurrent epistax... |
ORPHA:182050 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Recurrent bacteria... |
ORPHA:169079 |
Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... |
OMIM:607676 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... |
OMIM:193670 |
Immunodeficiency 32B |
|
BCGitis, Recurrent respiratory infections, Impaired oxidative burst, Abnormal circulating IgG lev... |
OMIM:226990 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec... |
OMIM:607624 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233710 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... |
OMIM:607594 |
Immune Deficiency, Familial Variable |
|
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... |
OMIM:614868 |
Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Placental Insufficiency |
|
Small placenta, Intrauterine growth retardation, Abnormal placenta morphology, Abnormal umbilical... |
ORPHA:439167 |
Congenital Factor Ii Deficiency |
|
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... |
ORPHA:325 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Congenital Factor Vii Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... |
ORPHA:327 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ... |
OMIM:233690 |
Hyperprolactinemia |
|
Oligomenorrhea, Female infertility, Menorrhagia |
OMIM:615555 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections... |
ORPHA:319552 |
Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... |
OMIM:209920 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... |
OMIM:240500 |
Essential Thrombocythemia |
|
Abnormal bleeding, Bruising susceptibility, Abnormality of thrombocytes, Transient ischemic attac... |
ORPHA:3318 |
Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... |
OMIM:227600 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Thrombocytopenia 5 |
|
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi... |
OMIM:616216 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm... |
OMIM:263300 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Recurrent otitis media, Reduction of neutrophil motility, Bronchiolitis, Neutrophilia |
OMIM:266265 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Prolonged bleeding time |
ORPHA:1059 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin... |
OMIM:615214 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac... |
OMIM:614172 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility |
OMIM:619009 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Prolonged bleeding time, Pulmonic stenosis |
ORPHA:638 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos... |
ORPHA:572 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... |
ORPHA:276 |
Hermansky-Pudlak Syndrome 11 |
|
Gingival bleeding, Epistaxis, Bruising susceptibility, Reduced platelet dense granules, Impaired ... |
OMIM:619172 |
Immunodeficiency 108 With Autoinflammation |
|
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei, Recurrent abscess formation |
OMIM:260570 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:619398 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co... |
ORPHA:3202 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... |
ORPHA:275 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Gingival bleeding, Increased circulating iron concentration, Increased mean corpuscular volume, I... |
ORPHA:98870 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small placenta, Intrauterine growth retardation, Oligohydramnios, Dysmenorrhea |
ORPHA:397590 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Familial Hypofibrinogenemia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding |
ORPHA:101041 |
Familial Dysfibrinogenemia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding |
ORPHA:98881 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ... |
OMIM:601495 |
Von Willebrand Disease |
|
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Pet... |
ORPHA:903 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small placenta, Intrauterine growth retardation, Hypogonadism, Severe intrauterine growth retarda... |
ORPHA:73272 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Recurrent mycobacterial infections, Invasive fungal infection, C... |
ORPHA:98813 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... |
OMIM:616005 |
Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Recurrent viral infections, Splenomegaly, Partial absence of spe... |
OMIM:620632 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... |
OMIM:618986 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... |
ORPHA:35909 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent viral infections, Recurrent ent... |
ORPHA:331206 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Recurrent Burkholderia cepacia i... |
OMIM:306400 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infections, Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral in... |
ORPHA:83471 |
Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... |
OMIM:612783 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level, Abnormal bl... |
OMIM:604928 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Internal hemorrhage, H... |
ORPHA:90308 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Bruising susceptibility, Splenomegaly, Thrombocytopenia, Hepatomegal... |
ORPHA:3226 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis... |
ORPHA:911 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Recurrent viral infections, Recurrent pneumonia, Cutaneous abs... |
OMIM:243700 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... |
OMIM:133100 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low... |
OMIM:308230 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired ... |
OMIM:618935 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia, Recurrent bacterial infections |
OMIM:619693 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent viral infections, Aplastic anemia, Lymphopenia, Recurrent infection of the gastrointest... |
ORPHA:486 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
Ataxia-Pancytopenia Syndrome |
|
Decreased circulating antibody level, Abnormal platelet function, Splenomegaly |
ORPHA:2585 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia |
ORPHA:517 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Abnormal bleeding, Co... |
ORPHA:75564 |
Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus... |
ORPHA:232 |
Hemophilia B |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... |
OMIM:306900 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Bone marrow hypocellularity, Thrombocytopenia, Impaired platelet aggregation |
OMIM:300835 |
Hermansky-Pudlak Syndrome 8 |
|
Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from superficial cuts, ... |
OMIM:614077 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Pulmonary embolism, Increased mean corpuscular volume, Hyperbilirubinemia, Spleno... |
OMIM:185000 |
Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial infections, Absent neutr... |
OMIM:617475 |
Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:620548 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Relapsing Fever |
|
Epistaxis, Hypotension, Abnormal bleeding, Increased total bilirubin, Elevated circulating creati... |
ORPHA:91547 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... |
OMIM:300291 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... |
ORPHA:90044 |
Hermansky-Pudlak Syndrome 1 |
|
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Cardiomyopathy, Ecchymosis, ... |
OMIM:203300 |
Selective Igm Deficiency |
|
Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess, Meningitis, Au... |
ORPHA:331235 |
Hermansky-Pudlak Syndrome 6 |
|
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... |
OMIM:614075 |
Immunodeficiency 69 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... |
OMIM:618963 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Second degree atrioventricular block, Increased mean corpuscular volume, Extrame... |
OMIM:617021 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent systemic pyogeni... |
OMIM:214500 |
Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma |
ORPHA:542592 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, Recurrent f... |
ORPHA:169090 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Recurrent b... |
OMIM:612840 |
Leukocyte Adhesion Deficiency, Type I |
|
Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent gram-negative bacterial infections, Re... |
OMIM:116920 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Abnormal bleeding, Prolonged prothrombin time |
OMIM:610842 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve... |
OMIM:618048 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Sitosterolemia 1 |
|
Giant platelets, Abnormal bleeding, Splenomegaly, Thrombocytopenia, Impaired platelet aggregation |
OMIM:210250 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Pa... |
OMIM:307200 |
Dentinogenesis Imperfecta |
|
Bruising susceptibility, Prolonged bleeding time |
ORPHA:49042 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent viral infections, Decreased speci... |
OMIM:606367 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet glycoprot... |
OMIM:603585 |
Omenn Syndrome |
|
Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Hypoplasia of the thymu... |
OMIM:603554 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology |
ORPHA:98848 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Impaired T cell functio... |
OMIM:613179 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Hematochezia, Epistaxis, Vasculitis, Bruising susceptibility, Spontaneous hema... |
ORPHA:906 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ... |
OMIM:613470 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Abnormality of neutrophil physiology, Hemophagocytosis, Abno... |
ORPHA:167 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Reduced natural killer cell activity, Hepatosplenomegaly, Impai... |
OMIM:608233 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... |
OMIM:277450 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE level, Lymphopenia,... |
ORPHA:443811 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Increased hematocrit, Increased red blood cell mass, Increased circulating hemoglobi... |
OMIM:263400 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent upper ... |
ORPHA:183675 |
Premature Ovarian Failure 6 |
|
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ... |
OMIM:612310 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Female infertility |
OMIM:617442 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Telangiectasia, Increased circulating IgG level, Intracranial... |
ORPHA:284227 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Aortic regurgitation, Hypotension,... |
ORPHA:99147 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous ... |
OMIM:102700 |
Immunodeficiency 12 |
|
Recurrent viral infections, Complete or near-complete absence of specific antibody response to te... |
OMIM:615468 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Splenomegaly, Pulmonary arterial hypertension, Myocarditis, Hepatome... |
ORPHA:809 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Polyhydramnios, Large placenta, Umbilical hernia |
ORPHA:254534 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening... |
OMIM:610984 |
Autoerythrocyte Sensitization Syndrome |
|
Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Bruising susceptibility, Intr... |
ORPHA:324636 |
Premature Ovarian Failure 20 |
|
Female infertility, Secondary amenorrhea |
OMIM:619938 |
Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... |
ORPHA:335 |
Immunodeficiency 23 |
|
Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf... |
OMIM:615816 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome... |
OMIM:613839 |
Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Abnormal bleeding, Palpitations, Leukocytosis, Anemia of inadeq... |
ORPHA:86839 |
Acquired Purpura Fulminans |
|
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, Intrac... |
ORPHA:49566 |
Mgat2-Cdg |
|
Decreased circulating IgG level, Abnormal bleeding, Arrhythmia, Impaired platelet aggregation, De... |
ORPHA:79329 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Acute Promyelocytic Leukemia |
|
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... |
ORPHA:520 |
Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... |
OMIM:619774 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Epistaxis, Decreased mean platelet volume, Decreased specific anti-polysacchar... |
OMIM:301000 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Recurrent viral infections, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic a... |
OMIM:620565 |
Osteogenesis Imperfecta, Type Xvi |
|
Bruising susceptibility, Prolonged bleeding time |
OMIM:616229 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... |
OMIM:619281 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Abnormality of the liver, Pancytopenia, Macrocytic anemia, Hyp... |
ORPHA:2169 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz... |
OMIM:300908 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... |
ORPHA:64743 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Mitral regurgitation, Macrocytic anemia, Persistence of hemogl... |
OMIM:612561 |
Primary Myelofibrosis |
|
Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hyperte... |
ORPHA:824 |
Immunodeficiency 27A |
|
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increase... |
OMIM:209950 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility, Elevated circulating creatine kinase concent... |
OMIM:619518 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Cholelithiasis, Extramedullary hematopoiesis, Persistence of hem... |
ORPHA:231222 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ducta... |
OMIM:613812 |
Fetal Akinesia Deformation Sequence 1 |
|
Small placenta, Intrauterine growth retardation, Increased nuchal translucency, Short umbilical c... |
OMIM:208150 |
Congenital Syphilis |
|
Intrauterine growth retardation, Large placenta, Petechiae, Myocarditis, Hydrops fetalis, Purpura... |
ORPHA:499009 |
Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis,... |
ORPHA:2968 |
Macs Syndrome |
|
Bruising susceptibility, Prolonged bleeding time |
OMIM:613075 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Hematochezia, Leukocytosis, Eosinophilia, Elevated circulating C-reactive protei... |
ORPHA:2070 |
Infantile Liver Failure Syndrome 2 |
|
Jaundice, Cardiomyopathy, Prolonged prothrombin time |
OMIM:616483 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ... |
ORPHA:261529 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Lymphop... |
OMIM:612541 |
Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated dia... |
ORPHA:90041 |
Thrombocytopenia 2 |
|
Bruising susceptibility, Abnormal platelet volume, Leukocytosis, Abnormal platelet shape, Thrombo... |
OMIM:188000 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Cerebral... |
OMIM:618886 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prolonged prothrombin... |
OMIM:214950 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Lymphopenia, Leukopenia... |
OMIM:127550 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Restrictive Dermopathy |
|
Small placenta, Intrauterine growth retardation, Large placenta, Short umbilical cord, Decreased ... |
ORPHA:1662 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Recurrent viral infections, Decreased circulating total IgG, R... |
ORPHA:221139 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ... |
OMIM:277410 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hypotension, Abnormal bleeding, Hepatitis, Cardiomyopathy, Cholestasis, Leukopen... |
ORPHA:292 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Polyhydramnios, Intrauterine growth retardation, Large placenta, Umbilical hernia |
ORPHA:254528 |
Polycythemia Vera |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Br... |
ORPHA:729 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Eisenmenger Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ... |
ORPHA:97214 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Pancreatic hypoplasia, Leukemia, Increased me... |
ORPHA:811 |
Sickle Cell Disease |
|
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... |
OMIM:603903 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Intrauterine growth retardation, Large placenta, Abnormalities of placenta ... |
OMIM:222470 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Decreased... |
OMIM:256520 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... |
ORPHA:51636 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Exocrine pancrea... |
OMIM:617052 |
Immunodeficiency 92 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Mirage Syndrome |
|
Sepsis, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Recurrent bacterial infectio... |
OMIM:617053 |
Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Prolonged prothrombin ti... |
OMIM:618641 |
Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Female infertility, Polysplenia, Asplenia, Male infertility |
ORPHA:244 |
Vici Syndrome |
|
Cutaneous anergy, Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutane... |
OMIM:242840 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... |
OMIM:300972 |
Yellow Fever |
|
Pancreatic hyperplasia, Hyperbilirubinemia, Excessive bleeding after a venipuncture, Neutrophilia... |
ORPHA:99829 |
Afibrinogenemia, Congenital |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... |
OMIM:202400 |
Ovarian Dysgenesis 3 |
|
Female infertility, Primary amenorrhea |
OMIM:614324 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis,... |
ORPHA:99901 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Recurrent bacterial infections |
OMIM:244460 |
Inhalational Anthrax |
|
Hypotension, Internal hemorrhage |
ORPHA:247257 |
Kagami-Ogata Syndrome |
|
Polyhydramnios, Large placenta, Premature birth |
ORPHA:254519 |
Caroli Syndrome |
|
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choled... |
ORPHA:480520 |
Noonan Syndrome 9 |
|
Pulmonic stenosis, Prolonged prothrombin time |
OMIM:616559 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Hellp Syndrome |
|
Hypotension, Placental abruption, Internal hemorrhage, Prolonged prothrombin time, Cerebral hemor... |
ORPHA:244242 |
Mosaic Trisomy 16 |
|
Intrauterine growth retardation, Large placenta, Single umbilical artery, Premature birth |
ORPHA:1708 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Increased mean corpuscular volume, Mitral regurgitation, Thrombocytopenia |
ORPHA:261250 |
Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level, Microvesicular hepatic steatosis, Prolonged prothrombin time, He... |
OMIM:613070 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Meningitis, Splenomegaly |
ORPHA:36412 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Tafro Syndrome |
|
Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Leukocytosis, Splenomegaly... |
ORPHA:457077 |
Cog8-Cdg |
|
Prolonged prothrombin time, Spontaneous hematomas |
ORPHA:95428 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Dilated cardiomyopathy, Congestive heart failure, Hepatosplenomegaly, Portal hypertension, Cirrho... |
ORPHA:367 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
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Portal fibrosis, Cholestasis, Hepatic steatosis, Prolonged prothrombin time, Pulmonic stenosis |
OMIM:614300 |
Greenberg Dysplasia |
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Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis, Polyhydramnios, Echogen... |
OMIM:215140 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Giant cell hepatitis, Cholestasis, Hepatic steatosis, Prolonged neonatal jaundice, Abnormal intra... |
ORPHA:79303 |
Bartter Syndrome, Type 2, Antenatal |
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Low-to-normal blood pressure, Impaired platelet aggregation |
OMIM:241200 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Irregular menstruation, Premature ovarian insufficiency, Female infertility, Amenorrhea |
OMIM:110100 |
Diamond-Blackfan Anemia 1 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Congestive heart failure, Elevate... |
OMIM:105650 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
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Jaundice, Cirrhosis, Prolonged prothrombin time |
OMIM:617049 |
Hereditary Chronic Pancreatitis |
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Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Elevated circulating C-reactive p... |
ORPHA:676 |
Aromatase Deficiency |
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Female infertility, Male infertility, Hyperlipidemia, Hepatic steatosis, Primary amenorrhea, Hype... |
ORPHA:91 |
Immunodeficiency 87 And Autoimmunity |
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Recurrent viral infections, Sepsis, Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic an... |
OMIM:619573 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... |
ORPHA:90038 |
Mannosidosis, Alpha B, Lysosomal |
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Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antibody level, Spl... |
OMIM:248500 |
Postinfectious Vasculitis |
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Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Recurrent ... |
ORPHA:48435 |
Colchicine Poisoning |
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Hypotension, Cardiogenic shock, Congestive heart failure, Hypomagnesemia, Leukocytosis, Hypocalce... |
ORPHA:31824 |
Patent Urachus |
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Recurrent gram-negative bacterial infections, Recurrent urinary tract infections |
ORPHA:431341 |
Sialuria |
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Hepatomegaly, Hepatosplenomegaly, Cholelithiasis, Prolonged prothrombin time |
ORPHA:3166 |
Familial Afibrinogenemia |
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Gingival bleeding, Epistaxis, Menometrorrhagia, Abnormal bleeding, Cerebral hemorrhage |
ORPHA:98880 |
Isolated Biliary Atresia |
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Periportal fibrosis, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged neonatal jaundice,... |
ORPHA:30391 |
Monosomy 13Q34 |
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Hematochezia, Epistaxis, Hepatic steatosis, Prolonged prothrombin time, Pulmonic stenosis |
ORPHA:96168 |
Congenital Disorder Of Glycosylation, Type It |
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Intrahepatic cholestasis, Aborted sudden cardiac death, Dilated cardiomyopathy, Hepatitis, Hepati... |
OMIM:614921 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Anemia, Leukocytosis, Splenomegaly, Recurrent bacterial infections |
OMIM:615895 |
Meckel Syndrome, Type 1 |
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Occipital encephalocele, Intrauterine growth retardation, Large placenta, Oligohydramnios, Breech... |
OMIM:249000 |
Classical Ehlers-Danlos Syndrome |
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Bruising susceptibility, Arterial rupture, Mitral regurgitation, Abnormal heart valve physiology,... |
ORPHA:287 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Spinal dysraphism, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Large placenta, ... |
ORPHA:96334 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Recurrent bacterial infections |
OMIM:241410 |
Hemorrhagic Fever-Renal Syndrome |
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Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Ecchymosis, H... |
ORPHA:340 |
Beckwith-Wiedemann Syndrome |
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Subchorionic septal cyst, Umbilical hernia, Hypertrophic cardiomyopathy, Large placenta, Polyhydr... |
ORPHA:116 |
Noonan Syndrome |
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Abnormal bleeding, Bruising susceptibility, Abnormal EKG, Hypertrophic cardiomyopathy, Abnormalit... |
ORPHA:648 |
Chromomycosis |
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Recurrent bacterial infections |
ORPHA:182 |
Cardiac-Urogenital Syndrome |
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Accessory spleen, Tachycardia, Prolonged bleeding time, Hepatopulmonary fusion |
OMIM:618280 |
Restrictive Dermopathy 1 |
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Premature rupture of membranes, Spontaneous chorioamniotic separation, Intrauterine growth retard... |
OMIM:275210 |
Glycogen Storage Disease Ib |
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Recurrent bacterial infections, Splenomegaly, Neutropenia |
OMIM:232220 |
Marburg Hemorrhagic Fever |
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Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Capil... |
ORPHA:99826 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Hepatic steatosis, Prolong... |
ORPHA:71212 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Abnormality of the liver, Cardiomyopathy, Prolonged prothrombin time, Hepatocellular carcinoma |
ORPHA:88618 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Congestive heart failure, Hepatic steatosis, Thrombocytopenia, Prolonged proth... |
OMIM:616271 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Splenomegaly, Prolonged prothrombin tim... |
OMIM:603553 |
Primary Sclerosing Cholangitis |
|
Hepatic fibrosis, Cholelithiasis, Spider hemangioma, Hepatitis, Palmar telangiectasia, Congestive... |
ORPHA:171 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Thrombocytopenia, Prolonged prothrombin time, Hepatomegaly, Jaundice |
OMIM:267700 |
Cystic Fibrosis |
|
Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
Shwachman-Diamond Syndrome 2 |
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Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Thrombocytopenia, Prolonged prothromb... |
OMIM:617941 |
Pseudohypoparathyroidism Type 1A |
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Prolonged QT interval, Abnormal platelet function, Hypertension |
ORPHA:79443 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Hypotension, Dilated cardiomyopathy, Lipid accumulation in hepatocytes, Prolonged prothrombin tim... |
ORPHA:20 |
Tyrosinemia, Type I |
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Gastrointestinal hemorrhage, Hypertrophic cardiomyopathy, Splenomegaly, Pancreatic islet-cell hyp... |
OMIM:276700 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hepatic fibrosis, Decreased circulating IgG level, Cardiomyopathy, Decreased circulating IgA leve... |
OMIM:212065 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Hypertrophic cardiomyopathy, Macrovesicular hepatic steatosis, Bile duct proliferation, Prolonged... |
OMIM:618329 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Female infertility, Streak ovary, Decreased fertility, Oligomenorrhea, Premature ovarian insuffic... |
ORPHA:572333 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Micronodular cirrhosis, Hypertrophic cardiomyopathy, Abnormality of the liver, Portal hypertensio... |
ORPHA:309854 |
Kasabach-Merritt Phenomenon |
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Petechiae, Thrombocytopenia, Prolonged prothrombin time, Hepatic hemangioma, Purpura |
ORPHA:2330 |
Superficial Siderosis |
|
Subarachnoid hemorrhage, Persistent bleeding after trauma, Abnormal bleeding, Internal hemorrhage |
ORPHA:247245 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
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Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous abscess, Chronic muc... |
OMIM:147060 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Secondary amenorrhea, Female infe... |
ORPHA:99413 |
Turner Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Secondary amenorrhea, Female infe... |
ORPHA:881 |
Mosaic Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Secondary amenorrhea, Female infe... |
ORPHA:99228 |
Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Biliary cirrhosis, Secondary amenorrhea, Female infe... |
ORPHA:99226 |
Lysinuric Protein Intolerance |
|
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Increased circulating antibody level, Recurrent... |
ORPHA:470 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Anemia, Abnormal myeloid leukocyte morphology, Chronic neutropenia, Recurrent bacterial infections |
ORPHA:79259 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Hypotension, Abnormal bleeding, Bruising susceptibility, Hepatitis, ... |
ORPHA:90062 |
Hennekam-Beemer Syndrome |
|
Mastocytosis |
ORPHA:2135 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Cholestasis, Hepatosplenomegaly, Hepatic steatosi... |
ORPHA:247598 |
Celiac Disease, Susceptibility To, 1 |
|
Decreased circulating IgA level, Prolonged prothrombin time, Thrombocytosis |
OMIM:212750 |
Alg12-Cdg |
|
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... |
ORPHA:79324 |
Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... |
ORPHA:3132 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Abetalipoproteinemia |
|
Hepatic fibrosis, Abnormal bleeding, Congestive heart failure, Hepatic steatosis, Cirrhosis, Prol... |
ORPHA:14 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Prolonged prothrombin time |
OMIM:311250 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Micronodular cirrhosis, Corneal neovascularization, Sp... |
ORPHA:404454 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Increased hepatic echogenicity, Hepatic steatosis, Splenomegaly, Prolonged neonatal jaundice, Pro... |
OMIM:619525 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections |
ORPHA:2273 |
Tuberous Sclerosis Complex |
|
Hypertension, Internal hemorrhage |
ORPHA:805 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Bruising susceptibility, Umbilical hernia, Transient ischemic attack, Telangie... |
ORPHA:286 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Anemia, Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess |
ORPHA:642 |
Pmm2-Cdg |
|
Impaired neutrophil chemotaxis |
ORPHA:79318 |