Immunodeficiency 86 |
|
BCGitis, Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Severe varicella zoster infection, Defective T ce... |
OMIM:615897 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... |
OMIM:245480 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... |
OMIM:615615 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... |
OMIM:308220 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... |
OMIM:619374 |
Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Abnormal vertebral morphology |
OMIM:615709 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Mental Retardation, X-Linked 82 |
|
Scoliosis, EEG abnormality, Kyphosis |
OMIM:300518 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Sepsis, B lymphocytopenia, Severe varicella zoster infection, Neutropenia, Pancytopenia, Leukopen... |
OMIM:618986 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Scoliosis, Facial... |
OMIM:601382 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Hypomagnesemia, Seizures, And Mental Retardation 1 |
|
Hypomagnesemia |
OMIM:616418 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Failure to thrive |
OMIM:617718 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Reticular Dysgenesis |
|
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, ... |
OMIM:267500 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis |
OMIM:616566 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... |
OMIM:619271 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up... |
OMIM:300853 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level, Recurrent infections |
OMIM:614102 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Agammaglobulinemia, Recurrent infections, Neutropenia |
OMIM:615214 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2239 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Leukocytosis, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Decreased circ... |
OMIM:605258 |
Galactosialidosis |
|
Abnormality of the vertebral column, Hearing impairment, Abnormal vertebral morphology |
ORPHA:351 |
Primary Basilar Invagination |
|
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology |
ORPHA:2285 |
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
Caspase 8 Deficiency |
|
Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ... |
OMIM:607271 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Refractory Celiac Disease |
|
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Hypop... |
ORPHA:398063 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... |
OMIM:607594 |
Osteomesopyknosis |
|
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Sclerotic vertebral body |
ORPHA:2777 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... |
OMIM:606843 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Leukopenia, Failure to thrive, Anemia, Hyperuricemia, Hypomagnesemia, Thrombocytopenia |
OMIM:613845 |
Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections, Decre... |
OMIM:614493 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Chondrocalcinosis, Hypokalemia |
OMIM:154020 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Recurrent otitis media, Neutrophilia, Bronchiolitis |
OMIM:266265 |
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability |
|
Hypomagnesemia, Episodic hypokalemia |
ORPHA:564178 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Recurrent bronchitis, Decreased circulating IgA level, Impaired T... |
OMIM:240500 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lack of T cell function, Recurrent opportunistic infections, Recurrent otitis ... |
ORPHA:277 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... |
OMIM:607624 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:608106 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia, Recurrent protozoan infections, Recurrent herpes, Lack of T cell function, Neutropen... |
ORPHA:572 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
Immunodeficiency 20 |
|
BCGitis, Severe varicella zoster infection, Recurrent oral herpes, Recurrent viral upper respirat... |
OMIM:615707 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypomagnesemia, Hypokalemia |
OMIM:618314 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Agammaglobulinemia, Infectious encephalitis, Recurrent protozoan ... |
OMIM:209920 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hypokalemia, Anemia, Hypomagnesemia, Hypocalcemia |
OMIM:175500 |
Slc35A1-Cdg |
|
Neutropenia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis |
ORPHA:238459 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormal... |
OMIM:617519 |
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia |
|
Hypomagnesemia, Obesity |
ORPHA:34527 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:155100 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Weight loss, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T ... |
ORPHA:90362 |
Spondylosis, Cervical |
|
Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis |
OMIM:184300 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Anemia, Hypocalcemia |
OMIM:244460 |
Shwachman-Diamond Syndrome |
|
Recurrent bacterial infections, Sepsis, Chronic neutropenia, Macrocytic anemia, Neutropenia, Panc... |
ORPHA:811 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease... |
OMIM:618534 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Immunodeficiency 66 |
|
Sepsis, Defective T cell proliferation, Meningitis |
OMIM:618847 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia, Chondrocalcinosis, Multiple lipomas |
OMIM:145981 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... |
OMIM:609813 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... |
OMIM:300400 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of serum cytokine level, Increased circulating interleukin 6, Infectious encephalitis... |
ORPHA:540 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Recurrent otitis me... |
OMIM:600802 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Recurrent Aspergillus infections, Rec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Recurrent Aspergillus infections, Rec... |
OMIM:233710 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... |
OMIM:601596 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... |
OMIM:202700 |
Colchicine Poisoning |
|
Leukocytosis, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal... |
ORPHA:31824 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Recurrent Aspergillus infections, Rec... |
OMIM:233690 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent E. coli infections, Splenomegaly, Granulomatosis, Recurrent Aspergillus infections, Rec... |
OMIM:306400 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating IgA level, Impaired me... |
OMIM:308230 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... |
OMIM:619281 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... |
OMIM:210250 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Abscess, Recurrent infections, Onychomycosis, Splenomegaly, Perianal abscess, Hepatosplenomegaly,... |
OMIM:618935 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... |
ORPHA:182050 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6, Neutropenia, Elevated circulating C-reactive protein concent... |
ORPHA:158061 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Hypouricemia, Recurrent opportunistic infections, Impaired T cell... |
OMIM:613179 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... |
ORPHA:35078 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Decreased lymph... |
OMIM:601859 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent bacterial infections, Abnormal B cell count, Decreased circulating IgA level, Recurrent... |
ORPHA:331206 |
Fechtner syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:153640 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation |
OMIM:231200 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypernatremia, Elevated circulating cre... |
ORPHA:94093 |
East Syndrome |
|
Hypomagnesemia, Increased circulating renin level, Hypokalemia |
ORPHA:199343 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... |
OMIM:617241 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia, Neutropenia, Decreased prealbumin level, Neutropenia in p... |
ORPHA:37042 |
Leukocyte Adhesion Deficiency |
|
Recurrent bacterial infections, Sepsis, Leukocytosis, Thrombocytosis, BCGosis, Polycythemia, Recu... |
ORPHA:2968 |
Thymic Aplasia |
|
Sepsis, Recurrent infections, Recurrent candida infections, Oligoclonal T cell expansion, Hypocal... |
ORPHA:83471 |
Say-Barber-Miller Syndrome |
|
Abnormal T cell morphology, Transient hypogammaglobulinemia of infancy, Decreased circulating IgG... |
ORPHA:3132 |
Pelger-Huet Anomaly |
|
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... |
OMIM:169400 |
Chediak-Higashi Syndrome |
|
Neutropenia, Leukopenia, Recurrent infections, Abnormal dense granules, Giant neutrophil granules... |
OMIM:214500 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
Chédiak-Higashi Syndrome |
|
Neutropenia, Abnormal platelet function, Recurrent infections, Splenomegaly, Increased circulatin... |
ORPHA:167 |
Acute Lung Injury |
|
Sepsis, Abnormality of serum cytokine level, Increased circulating interleukin 6, Increased circu... |
ORPHA:178320 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Hypermagnesemia, Multiple lipomas |
OMIM:600740 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Nonspherocytic hemolytic... |
OMIM:613470 |
Indolent Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Mastocytosis, Splenomegaly, Abnormal mast cell morphology |
ORPHA:98848 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
Gitelman Syndrome |
|
Chondrocalcinosis, Hypokalemia, Failure to thrive, Hypomagnesemia, Increased circulating renin level |
OMIM:263800 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Abnormal circulating neopterin concentration, Hypomagnesemia, Abnormal circulating biopterin conc... |
ORPHA:1578 |
Familial Hypocalciuric Hypercalcemia |
|
Hypercalcemia, Chondrocalcinosis, Hypocalcemic seizures, Infantile hypercalcemia, Lipoma, Renal h... |
ORPHA:405 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Increased circulating renin level, Hypokalemia |
OMIM:612780 |
Uremic Pruritus |
|
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia |
ORPHA:94059 |
Pearson Syndrome |
|
Neutropenia, Small for gestational age, Hypokalemia, Anemia, Hypophosphatemia, Splenomegaly, Hypo... |
ORPHA:699 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Episodic hypokalemia, Weight loss, Mildly elevated creatine kinase, Hypomagnesemia,... |
ORPHA:79102 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Chondrocalcinosis, Small for gestational age, Hypokalemia, Failure to thrive, Incr... |
OMIM:601678 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Hypomagnesemia, Amelogenesis imperfecta |
OMIM:248190 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly |
OMIM:153670 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Pyoderma, Recurrent bronchopulmonary infections, Aplasia of the thymu... |
OMIM:242700 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia |
ORPHA:428 |
Adult Acute Respiratory Distress Syndrome |
|
Sepsis, Increased circulating interleukin 6, Abnormality of tumor necrosis factor secretion, Abno... |
ORPHA:70578 |
Bartter Syndrome, Type 2, Antenatal |
|
Chondrocalcinosis, Small for gestational age, Hypokalemia, Failure to thrive, Increased serum pro... |
OMIM:241200 |
Hypomagnesemia 3, Renal |
|
Failure to thrive, Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Increased circulating interleukin 6, Sterile abscess, R... |
ORPHA:3243 |
X-Linked Lymphoproliferative Disease |
|
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... |
ORPHA:2442 |
Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Anemia |
OMIM:616176 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Recurrent candida infections, Impaired T cell function |
OMIM:201100 |
Gitelman Syndrome |
|
Chondrocalcinosis, Hypokalemia, Iron deficiency anemia, Failure to thrive, Hypomagnesemia, Hypoca... |
ORPHA:358 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Hypomagnesemia, Hypocalcemic tetany, Hypocalcemia |
ORPHA:73224 |
Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Small for gestational age, Hypokalemia, Failure to thrive, Hypochloremia, Hypomagne... |
ORPHA:89938 |
Acrocraniofacial Dysostosis |
|
Abnormality of the vertebral column, Conductive hearing impairment, Abnormal auditory evoked pote... |
OMIM:201050 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Biconcave vertebral bodies, Optic disc pallor, Abnormal auditory evoked potentials, Os odontoideu... |
OMIM:619260 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormality of the vertebral column, Abnormal auditory evoked potentials, Sensorineural hearing i... |
OMIM:109120 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... |
ORPHA:98850 |
Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Helicobacter pylori infection, Recurrent cut... |
OMIM:618131 |
Vici Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Cutaneou... |
OMIM:242840 |
Helix Syndrome |
|
Hypermagnesemia, Hypokalemia |
OMIM:617671 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Impaired T cell function, Elevated circulating creatine kinase concen... |
OMIM:614576 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... |
OMIM:241150 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... |
OMIM:222470 |
Pgm3-Cdg |
|
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... |
ORPHA:443811 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Severe varicella zoster infection, Defective T cell proliferation, ... |
OMIM:618213 |
Arthrogryposis, Distal, Type 2A |
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Abnormal auditory evoked potentials, Kyphoscoliosis, Hearing impairment, Short neck, Spina bifida... |
OMIM:193700 |
Takenouchi-Kosaki Syndrome |
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Thrombocytopenia, Increased mean platelet volume, Inguinal hernia, Camptodactyly |
OMIM:616737 |
Aregenerative Anemia |
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Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B... |
ORPHA:101096 |
Bernard-Soulier Syndrome |
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Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... |
ORPHA:274 |
Hereditary Fructose Intolerance |
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Hypermagnesemia, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
Mohr-Tranebjaerg Syndrome |
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Optic atrophy, Abnormality of somatosensory evoked potentials, Absent brainstem auditory response... |
ORPHA:52368 |
Syndromic Diarrhea |
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Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Small for gestat... |
ORPHA:84064 |
Bullous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280785 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Hereditary Orotic Aciduria |
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Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function |
ORPHA:30 |
Obesity Due To Congenital Leptin Deficiency |
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Recurrent upper respiratory tract infections, Decreased T cell activation, Hypertriglyceridemia, ... |
ORPHA:66628 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hip contracture, Failure to thrive, Reduced subcutaneous adipose tissue, Arthrogryposis multiplex... |
OMIM:619503 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Recurrent upper respiratory tract infections, Decreased T cell activation, Hypertriglyceridemia, ... |
ORPHA:179494 |
Lathosterolosis |
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Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Abnormal circulating cholest... |
OMIM:607330 |
Orotic Aciduria |
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Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... |
OMIM:258900 |
Schimke Immuno-Osseous Dysplasia |
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Decreased proportion of naive CD8 T cells, Neutropenia, Hyperlipidemia, Impaired T cell function,... |
ORPHA:1830 |
Charcot-Marie-Tooth Disease Type 1F |
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Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Late-Infantile/Juvenile Krabbe Disease |
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EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
Mastocytosis |
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Hypercalcemia, Acute leukemia, Chronic leukemia, Splenomegaly, Mastocytosis |
ORPHA:98292 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Increased mean platelet volume, Flexion contracture, Camptodactyly, Thrombocytopenia, Inguinal he... |
ORPHA:487796 |
Adult Krabbe Disease |
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EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Cockayne Syndrome Type 1 |
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Optic atrophy, Absent brainstem auditory responses, Macrotia, Hearing impairment, Abnormality of ... |
ORPHA:90321 |
Trisomy 10P |
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Low voltage EEG, Abnormal auditory evoked potentials, Hemivertebrae, Macrotia, Posteriorly rotate... |
ORPHA:171929 |
Chronic Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Congenital Disorder Of Glycosylation, Type Iif |
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Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Orthostatic ... |
ORPHA:99027 |
Mogs-Cdg |
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Sensorineural hearing impairment, Thoracic scoliosis, Absent brainstem auditory responses, Optic ... |
ORPHA:79330 |
Cerebrotendinous Xanthomatosis |
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Optic atrophy, Optic neuropathy, Optic disc pallor, Abnormal auditory evoked potentials, Abnormal... |
ORPHA:909 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:609136 |
Infantile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... |
ORPHA:206436 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Abnormality of serum cytokine level, Increased circulating interleukin 6, Elevated circulating cr... |
ORPHA:542323 |
Cockayne Syndrome A |
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Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... |
OMIM:216400 |
Velocardiofacial Syndrome |
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Recurrent infections, Hypocalcemia, Impaired T cell function |
OMIM:192430 |
Mend Syndrome |
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Sacral dimple, Abnormal auditory evoked potentials, Kyphosis |
ORPHA:401973 |
Cockayne Syndrome B |
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Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... |
OMIM:133540 |
Pmm2-Cdg |
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Impaired neutrophil chemotaxis, Reduced thyroxin-binding globulin, Hypoalbuminemia |
ORPHA:79318 |
Hennekam-Beemer Syndrome |
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Mastocytosis |
ORPHA:2135 |
Progeroid Short Stature With Pigmented Nevi |
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Recurrent viral infections, Impaired T cell function |
OMIM:176690 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hypocalcemic seizures, Abnormality of T cell physiology, Hypocalcemia |
ORPHA:2237 |
Myhre Syndrome |
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Vertebral fusion, Platyspondyly, Hearing impairment, Enlarged vertebral pedicles, Microtia, Short... |
OMIM:139210 |
Osteogenesis Imperfecta |
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Biconcave vertebral bodies, Progressive hearing impairment, Abnormal form of the vertebral bodies... |
ORPHA:666 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Sarcoidosis, Susceptibility To, 1 |
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Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology, Splenomegaly |
OMIM:181000 |
Digeorge Syndrome |
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Recurrent infections, Hypocalcemia, Impaired T cell function |
OMIM:188400 |
22Q11.2 Deletion Syndrome |
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Impaired T cell function, Hypoplasia of the thymus, Splenomegaly, Hypocalcemia, Thrombocytopenia |
ORPHA:567 |