Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... |
ORPHA:399808 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Edema, Arthritis, Muscular edema |
ORPHA:3165 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Edema |
OMIM:154800 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Eosinophilopenia |
|
Decreased eosinophil count, Allergic rhinitis |
OMIM:131430 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Indolent Systemic Mastocytosis |
|
Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto... |
ORPHA:98848 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... |
OMIM:617638 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Hypoplasia of the ear cartilage |
ORPHA:66661 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, M... |
ORPHA:292 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Primary Erythromelalgia |
|
Leukemia, Hypothermia |
ORPHA:90026 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Juvenile Temporal Arteritis |
|
Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia |
ORPHA:26137 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... |
OMIM:612650 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Chronic oral candidias... |
OMIM:212050 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia |
OMIM:612649 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Lymphopenia, Eosinophilia |
ORPHA:2582 |
Reticular Dysgenesis |
|
Skin rash, Abnormality of neutrophils, Dehydration, Decreased circulating antibody level, Leukope... |
ORPHA:33355 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis |
ORPHA:157991 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Edema, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocyt... |
OMIM:603552 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplen... |
ORPHA:98850 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Lymphedema, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Progre... |
OMIM:607115 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Bronchiectasis |
ORPHA:1164 |
Immunodeficiency 32B |
|
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Anemia, Impaired ... |
OMIM:226990 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Decreased female libido, Abnormality of the menstrual cy... |
ORPHA:330015 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis, Conductive hearing impairment, Microtia |
OMIM:248910 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Ciliary Dyskinesia, Primary, 22 |
|
Reduced sperm motility, Infertility, Absent inner and outer dynein arms |
OMIM:615444 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenom... |
ORPHA:169160 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis |
OMIM:260570 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Increased circulating IgE level, ... |
OMIM:618282 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Lymphedema |
OMIM:223350 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia, Edema, Pedal edema |
OMIM:152800 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Wells Syndrome |
|
Eosinophilia, Edema |
ORPHA:901 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti... |
OMIM:618523 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Impaired neutrophil chemotaxis, Partial absence of... |
OMIM:618986 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Increased circulating IgE level... |
OMIM:243700 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:601859 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Esophagitis |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Esophagitis |
OMIM:613412 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco... |
ORPHA:2686 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutane... |
OMIM:147060 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Edema, Allergic rhinitis, Leukocytosis, Atopic dermatitis, Ascites, Anemia |
ORPHA:2070 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Spontaneous Periodic Hypothermia |
|
Skin rash, Hypothermia |
ORPHA:29822 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:603909 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Acut... |
ORPHA:486 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Eczema, Edema |
OMIM:177000 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... |
ORPHA:443811 |
Netherton Syndrome |
|
Hypernatremic dehydration, Recurrent skin infections, Eczema, Allergic rhinitis, Angioedema, Incr... |
OMIM:256500 |
Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgA level, Increased circulating IgE level, Bronchiectasis, Hypochromic mic... |
OMIM:619632 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ... |
OMIM:304790 |
Omenn Syndrome |
|
Eosinophilia, Edema, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Erythroderma, Abnormal l... |
ORPHA:39041 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Chronic oral candidias... |
OMIM:615387 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Edema, Microcytic anemia |
ORPHA:79278 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Myositis, Eosinophilia |
OMIM:253600 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Edem... |
ORPHA:167 |
Cinca Syndrome |
|
Abnormality of neutrophils, Edema, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis, Sensor... |
ORPHA:1451 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Facial edema, Pustule, ... |
ORPHA:293173 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Myocarditis, Angioedema, Hepatitis, Thyroiditis, Tubulointersti... |
ORPHA:139402 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
Idiopathic Congenital Hypothyroidism |
|
Facial edema, Hypothermia |
ORPHA:95717 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration |
OMIM:222765 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, Colonic eosinophilia |
OMIM:618999 |
Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... |
OMIM:102700 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Increased circulating IgE level, B ... |
OMIM:602450 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Familial Thyroid Dyshormonogenesis |
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Facial edema, Sensorineural hearing impairment, Hypothermia |
ORPHA:95716 |
Omenn Syndrome |
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Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ... |
OMIM:603554 |
Autoinflammation With Arthritis And Dyskeratosis |
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Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Th... |
OMIM:617388 |
Immunodeficiency 23 |
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Hemolytic anemia, Membranoproliferative glomerulonephritis, Eosinophilia, Abscess, Eczema, Allerg... |
OMIM:615816 |
Lymphatic Malformation 6 |
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Genital edema, Abnormal pinna morphology, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facia... |
OMIM:616843 |
Autoimmune Lymphoproliferative Syndrome |
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Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B ce... |
ORPHA:3261 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Pericardial effusion, Normochromic anemia, Hypothermia, Thrombocytopenia |
OMIM:618775 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Acute pancreatitis, Edema, Hypothermia, Leukocytosis, Dehydration, Leukopenia, Thrombocytosis, An... |
ORPHA:20 |
Immunodeficiency 49 |
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Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Posteriorly ... |
OMIM:617237 |
Renal Cysts And Diabetes Syndrome |
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Hypospadias, Elevated circulating creatinine concentration, Hypoplasia of the uterus, Bicornuate ... |
OMIM:137920 |
Dopamine Beta-Hydroxylase Deficiency |
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Rhinitis, Hypothermia, Anemia, Dehydration |
ORPHA:230 |
Aspergillosis |
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Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Increased circulating IgE level, Br... |
ORPHA:1163 |
Coenzyme Q10 Deficiency, Primary, 5 |
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Hypothermia |
OMIM:614654 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
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Autoimmune hemolytic anemia, Myositis, Edema, Splenomegaly, Panniculitis |
OMIM:619183 |
Hereditary Folate Malabsorption |
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Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Decreased circulating antibody level... |
ORPHA:90045 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
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Hypothermia, Hearing impairment |
OMIM:245400 |
Meningococcal Meningitis |
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Skin rash, Infectious encephalitis, Hypothermia, Hearing impairment |
ORPHA:33475 |
Hennekam-Beemer Syndrome |
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Pneumonia, Conductive hearing impairment, Microtia, Mastocytosis, Hearing impairment |
ORPHA:2135 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
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Hypothermia |
OMIM:616501 |
Timothy Syndrome |
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Pneumonia, Hypothermia |
OMIM:601005 |
O'Sullivan-Mcleod Syndrome |
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Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Wiskott-Aldrich Syndrome |
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Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
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Hypothermia |
ORPHA:168593 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
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Hypothermia |
OMIM:614498 |
Autosomal Dominant Polycystic Kidney Disease |
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Elevated circulating creatinine concentration, Reduced sperm motility |
ORPHA:730 |
Primary Sclerosing Cholangitis |
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Abnormal eosinophil morphology, Splenomegaly, Hepatitis, Uveitis, Polyclonal elevation of IgM, He... |
ORPHA:171 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Hypothermia, Megaloblastic anemia, Hydrops fetalis, Dehydration, Low-set ears, Neutropenia, Stoma... |
ORPHA:79282 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Splenomegaly, Ascites, Hypothermia, Thrombocytopenia |
OMIM:251880 |
Marburg Hemorrhagic Fever |
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Lymphopenia, Reticulocytosis, Pericarditis, Maculopapular exanthema, Skin rash, Hypothermia, Orch... |
ORPHA:99826 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Pericardial effusion, Inflammatory abnormality of the skin, Pneumonia, Hypothermia |
ORPHA:26793 |
Carney Complex |
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Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... |
ORPHA:1359 |
Genetic Transient Congenital Hypothyroidism |
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Hypothermia, Edema |
ORPHA:226316 |
Igg4-Related Submandibular Gland Disease |
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Eosinophilia, Increased circulating IgG4 level, Cholangitis, Facial edema, Periorbital edema, Inc... |
ORPHA:449432 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Hypothermia |
ORPHA:226313 |
Coccidioidomycosis |
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Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia |
ORPHA:228123 |
Menkes Disease |
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Hypothermia |
OMIM:309400 |
Neuroleptic Malignant Syndrome |
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Hypothermia, Leukocytosis, Dehydration, Aspiration pneumonia, Thrombocytosis, Thrombocytopenia |
ORPHA:94093 |
Dermatomyositis |
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Pericarditis, Abnormal eosinophil morphology, Edema, Periorbital edema, Myocarditis, Arthritis |
ORPHA:221 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
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Recurrent pneumonia, Hypothermia |
OMIM:618493 |
Sarcoidosis |
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Hemolytic anemia, Maculopapular exanthema, Eosinophilia, Parotitis, Hypothermia, Erythema nodosum... |
ORPHA:797 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Hypothermia, Edema |
ORPHA:90673 |
Idiopathic Hypereosinophilic Syndrome |
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Inflammatory abnormality of the skin, Neutrophilia, Eosinophilia, Cholangitis, Eczema, Thrombocyt... |
ORPHA:3260 |
Ethylene Glycol Poisoning |
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Gastritis, Hypothermia, Cerebral edema, Pulmonary edema |
ORPHA:31826 |
Tbck-Related Intellectual Disability Syndrome |
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Sensorineural hearing impairment, Eczema, Hypothermia, Oligohydramnios |
ORPHA:488632 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Hypothermia |
OMIM:608800 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
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Unilateral deafness, Edema |
OMIM:612097 |
Leukocyte Adhesion Deficiency |
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Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Sensorineural hearing impairment, Hypothermia |
OMIM:618329 |
Igg4-Related Kidney Disease |
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Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Increased circulating IgG4 leve... |
ORPHA:449395 |
Floating-Harbor Syndrome |
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Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Umbilical hernia, Varicocele |
OMIM:136140 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Hypothermia |
ORPHA:159 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypothermia, Aspiration pn... |
ORPHA:99027 |
Igg4-Related Ophthalmic Disease |
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Sinusitis, Palpebral edema, Eosinophilia, Increased circulating IgG4 level, Cholangitis, Periorbi... |
ORPHA:449563 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Facial edema, Hypothermia |
ORPHA:90674 |
Alexander Disease |
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Infectious encephalitis, Hypothermia |
ORPHA:58 |
Von Hippel-Lindau Syndrome |
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Papillary cystadenoma of the epididymis, Epididymal cyst |
OMIM:193300 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Fasciitis, Osteomyelitis, Abscess, Hypothermia, Septic arthritis, Recurrent aspiration pneumonia,... |
ORPHA:642 |
Floating-Harbor Syndrome |
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Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele |
ORPHA:2044 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Sensorineural hearing impairment, Hypothermia |
ORPHA:17 |
Cushing Disease |
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Acne, Leukocytosis, Pedal edema, Recurrent cutaneous fungal infections, Decreased eosinophil coun... |
ORPHA:96253 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Facial edema, Sensorineural hearing impairment, Hypothermia |
ORPHA:226307 |
Menkes Disease |
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Osteomyelitis, Hypothermia |
ORPHA:565 |
Orthostatic Hypotension 1 |
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Intermittent hypothermia |
OMIM:223360 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Sensorineural hearing impairment, Hypothermia |
ORPHA:255210 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Intermittent hypothermia |
OMIM:608643 |
Occipital Horn Syndrome |
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Hypothermia, Hepatitis, Esophagitis |
ORPHA:198 |
Von Hippel-Lindau Disease |
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Papillary cystadenoma of the epididymis, Epididymal cyst |
ORPHA:892 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Sensorineural hearing impairment, Infectious encephalitis, Hypothermia |
ORPHA:293987 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Hypothermia, Anemia, Aspiration pneumonia |
ORPHA:438213 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Acne, Leukocytosis, Pedal edema, Recurrent cutaneous fungal infections, Peripheral edema, Decreas... |
ORPHA:99889 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Hypothermia |
OMIM:218700 |