Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial inf... |
OMIM:155100 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
Athrombia, Essential |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... |
OMIM:209050 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst... |
ORPHA:98807 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... |
OMIM:616022 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Failure to thrive, Recurrent skin infections, Recurrent meningococcal disease, ... |
OMIM:614372 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, Re... |
OMIM:610163 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
Histiocytosis, Familial Lipochrome |
|
Polyarticular arthritis, Increased circulating antibody level |
OMIM:235900 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... |
OMIM:310350 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... |
OMIM:615897 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:619220 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... |
ORPHA:238459 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia |
OMIM:619773 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta... |
OMIM:607594 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... |
OMIM:608106 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... |
ORPHA:572 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... |
OMIM:226990 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Decreased circulating antibody level |
OMIM:300988 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... |
ORPHA:70592 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Tremor, O... |
OMIM:613179 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:601859 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis |
OMIM:216950 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... |
OMIM:187900 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia |
OMIM:617638 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... |
ORPHA:382 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Dy... |
ORPHA:251282 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... |
OMIM:240500 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
Immunodeficiency 64 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Autoimmune thrombocytopenia, Antinu... |
OMIM:618534 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hepa... |
OMIM:308230 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocytosis, Reduced delayed hypersensit... |
OMIM:607624 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocardial infarction, Increased mean ... |
ORPHA:182050 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dy... |
ORPHA:240103 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... |
OMIM:601399 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Osteoarthritis Susceptibility 3 |
|
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... |
OMIM:607850 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati... |
OMIM:618982 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Autoimmune hemolytic anemia, Increased circulating antibody level, Pneumonia |
OMIM:247800 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy, Anorexia, Weight loss |
ORPHA:52416 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... |
OMIM:614076 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... |
OMIM:617765 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Eczema, Autoimmunity, Abnormal immunoglobulin level, Increased circulating IgE level,... |
ORPHA:98813 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Rec... |
ORPHA:275 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Weight loss, Dec... |
ORPHA:33355 |
Huntington Disease-Like 1 |
|
Restlessness, Abnormal head movements, Incoordination, Involuntary movements, Chorea, Slurred spe... |
ORPHA:157941 |
Huntington Disease-Like 2 |
|
Parkinsonism, Involuntary movements, Chorea, Weight loss, Gait disturbance, Dystonia |
ORPHA:98934 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Decreased circulating IgG level, Pneumonia, Otitis media |
OMIM:312863 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... |
OMIM:243700 |
Immunodeficiency 97 With Autoinflammation |
|
Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E... |
OMIM:619802 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Weight loss, He... |
OMIM:209950 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... |
ORPHA:411593 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, ... |
OMIM:619150 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating I... |
OMIM:619707 |
Chondrocalcinosis 2 |
|
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Glycoprotein Storage Disease |
|
Gout |
OMIM:232900 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Skin rash, Microcytic anemia |
ORPHA:1059 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... |
ORPHA:3226 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... |
OMIM:614868 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements, Chorea, Involuntary movements |
OMIM:616939 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Dysphagia, Focal dy... |
ORPHA:216873 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Lymphadenopathy |
OMIM:616126 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Pgm3-Cdg |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk... |
ORPHA:443811 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... |
OMIM:608957 |
Sandhoff Disease, Adult Form |
|
Tremor, Dysphagia, Gait ataxia, Focal dystonia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Huntington Disease |
|
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Clums... |
ORPHA:399 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... |
ORPHA:401901 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... |
OMIM:617270 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Simplified gy... |
OMIM:619470 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... |
OMIM:616005 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased pr... |
ORPHA:169160 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Epistaxis, Impaired neutrophil chemotaxis |
OMIM:260570 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Reduced isohemagglu... |
OMIM:618459 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
ORPHA:50809 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal repetitive manne... |
OMIM:614063 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Pachygyria, Abnormal repetitive mannerisms |
OMIM:606053 |
Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinem... |
OMIM:300400 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive |
OMIM:619651 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Juvenile Huntington Disease |
|
Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... |
ORPHA:248111 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dy... |
OMIM:615924 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Recurrent infections, Anemia, Leukopeni... |
OMIM:615285 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... |
OMIM:617862 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Skin rash, Neutrophilic infiltration of the skin, Increased circulating IgA level, Antinuclear an... |
OMIM:618048 |
Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal... |
ORPHA:47612 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec... |
OMIM:615122 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Torticollis, Ataxia |
ORPHA:71518 |
Leigh Syndrome |
|
Ataxia, Hepatocellular necrosis, Dystonia, Spasticity, Failure to thrive |
OMIM:256000 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac... |
ORPHA:169079 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased... |
OMIM:616740 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia... |
OMIM:618278 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi... |
OMIM:606367 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... |
OMIM:619281 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Hemolytic anemia, Chilblains, Tremor, Rigidity, Splenomegaly, Dystonia, Loss of amb... |
OMIM:615010 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... |
ORPHA:90280 |
Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... |
OMIM:608636 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia |
OMIM:300299 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors |
OMIM:159900 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... |
ORPHA:231393 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia |
OMIM:620270 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Telangiectasia of the skin, Abnormality of neutr... |
ORPHA:542592 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia,... |
OMIM:618093 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, BCGosis, Leukocytosis, Hepatosplenomegaly, Thrombocytosis,... |
OMIM:618963 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... |
OMIM:612840 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis |
OMIM:609655 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Autoimmunity, Increased circulat... |
OMIM:618495 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Ataxia, Abnormality of neuronal migration, Attention deficit hype... |
OMIM:618709 |
Indolent Systemic Mastocytosis |
|
Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Increased proportion of CD25+ mast ce... |
ORPHA:98848 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Involuntary movements, Aggressive behavior |
OMIM:617171 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... |
OMIM:233710 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Autoimmune Hepatitis |
|
Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Glomerulonephritis, Antinucle... |
ORPHA:2137 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Involuntary movements, Inability to walk, Self-injurious behavior, Dystonia, Spasticity, Abnormal... |
OMIM:617820 |
Dietary Iron Overload Disease |
|
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Chronic infection, Peritonitis, Micronod... |
ORPHA:139507 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Sple... |
OMIM:603554 |
Huntington Disease-Like 3 |
|
Abnormal head movements, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyr... |
ORPHA:157946 |
Hemochromatosis, Neonatal |
|
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... |
OMIM:231100 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, ... |
OMIM:613496 |
Immunodeficiency 7 |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to... |
ORPHA:47 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Increased circul... |
ORPHA:100024 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor |
OMIM:606438 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Autoimmune thromb... |
OMIM:614470 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia, Ankle clonus, H... |
OMIM:617435 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy... |
ORPHA:85435 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... |
OMIM:304790 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex... |
ORPHA:905 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... |
OMIM:233690 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... |
ORPHA:183675 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia, Clumsiness |
OMIM:610738 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:614075 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... |
ORPHA:507 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... |
OMIM:105835 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Immunodeficiency 23 |
|
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... |
OMIM:615816 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... |
ORPHA:90045 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Refractory Anemia |
|
Abnormal bleeding, Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, A... |
ORPHA:98826 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... |
OMIM:102700 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Roifman Syndrome |
|
Hepatosplenomegaly, Decreased T cell activation, Eosinophilia, Decreased circulating antibody level |
ORPHA:353298 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... |
OMIM:613135 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:86893 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Recurrent sinusitis, ... |
OMIM:620282 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal... |
ORPHA:3318 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Cheilitis, Bronchiectasis, Recu... |
OMIM:615468 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Clumsiness, Eyelid myoclonus, Hepatosplenomegaly, Myocl... |
ORPHA:2590 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Fulminant hepatitis, Lymphocytosis, Neutropenia, Decreased circulating IgG level... |
OMIM:308240 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic ... |
OMIM:616719 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... |
OMIM:613860 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... |
OMIM:618218 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti... |
ORPHA:449400 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... |
OMIM:602450 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... |
OMIM:618282 |
Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Bradykinesia, Dystonia |
OMIM:128235 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Weight loss, Lymphadenopathy, Arthritis, Infec... |
ORPHA:42642 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil... |
OMIM:616269 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Recurrent infections, Athetosis, Leukopenia, Neut... |
OMIM:229050 |
Immunodeficiency 11A |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ataxia, Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumonitis... |
OMIM:127550 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Speech apraxia, Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavi... |
OMIM:613670 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis,... |
OMIM:619693 |
Foxg1 Syndrome |
|
Decreased body weight, Inability to walk, Bruxism, Choreoathetosis, Hyperkinetic movements, Myocl... |
ORPHA:561854 |
Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly |
OMIM:607115 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, Recurrent fungal infections, Recurren... |
OMIM:614172 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Ataxia, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Ataxia, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy, Bone marro... |
ORPHA:391 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Decreased circulating IgG level, Crohn's disease, Increased ... |
OMIM:615767 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
Bullous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis, Erythroderma, Pruritus |
ORPHA:280785 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes... |
OMIM:614700 |
Dystonia, Dopa-Responsive |
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Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
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Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
Subcorneal Pustular Dermatosis |
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Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
Parkinsonism With Spasticity, X-Linked |
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Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Wiskott-Aldrich Syndrome |
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Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Pro... |
OMIM:301000 |
Papa Syndrome |
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Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... |
ORPHA:69126 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... |
OMIM:613470 |
Immunodeficiency 70 |
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Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Neurofibromatosis-Noonan Syndrome |
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Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
Iga Pemphigus |
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Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... |
ORPHA:555905 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy |
OMIM:183350 |
Chediak-Higashi Syndrome |
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Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Rec... |
OMIM:214500 |
Autoinflammation With Arthritis And Dyskeratosis |
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Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody positivity, Th... |
OMIM:617388 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... |
OMIM:616100 |
Specific Granule Deficiency 2 |
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Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
Complement Component 3 Deficiency, Autosomal Recessive |
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Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... |
OMIM:613779 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
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Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
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Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Gait disturba... |
OMIM:600795 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Increased circulating IgM level, Decreased circulating IgG2 level, Bronchiectasis, Decreased spec... |
OMIM:615513 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
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Glomerulonephritis, Increased circulating IgA level |
OMIM:314000 |
Glut1 Deficiency Syndrome 2 |
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Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia |
OMIM:612126 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
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Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Spastic Ataxia 2, Autosomal Recessive |
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Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia... |
OMIM:618986 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
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Hepatomegaly, Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my... |
ORPHA:169090 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Galactose Epimerase Deficiency |
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Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... |
OMIM:256810 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
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Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... |
ORPHA:277 |
Idiopathic Achalasia |
|
Weight loss, Recurrent aspiration pneumonia, Dysphagia |
ORPHA:930 |
Stxbp1-Related Encephalopathy |
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Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Episodic Ataxia Type 4 |
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Abnormal head movements, Frequent falls, Incoordination, Ataxia |
ORPHA:79136 |
Spinocerebellar Ataxia Type 37 |
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Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Falls, Myoclonus, Truncal ataxia... |
ORPHA:363710 |
Neutrophil Actin Dysfunction |
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Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
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Recurrent mycobacterial infections |
OMIM:614889 |
Dystonia 28, Childhood-Onset |
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Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
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Spastic tetraplegia, Self-injurious behavior, Hypertonia, Polymicrogyria, Abnormal repetitive man... |
OMIM:615282 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Developmental And Epileptic Encephalopathy 58 |
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Inability to walk, Abnormal repetitive mannerisms, Spastic diplegia |
OMIM:617830 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
Wiskott-Aldrich Syndrome 2 |
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Defective T cell proliferation, Reduced natural killer cell activity |
OMIM:614493 |
Dystonia 3, Torsion, X-Linked |
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Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Aplasia Cutis Congenita |
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Prolonged bleeding time |
ORPHA:1114 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
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Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,... |
OMIM:245348 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Anorexia, Splenomegaly, Thrombocytopenia, Neutropenia, Choreoathetosis, Dystonia, L... |
ORPHA:79312 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Oromandibular dystonia, Scissor gait, Bradykinesia, Ankle cl... |
ORPHA:521406 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
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Hepatomegaly, Hemiplegia/hemiparesis, Chorea, Thrombocytopenia, Neutropenia, Sepsis, Choreoatheto... |
ORPHA:289916 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
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Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Dysphagia, Up... |
ORPHA:276435 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... |
OMIM:609425 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Leukocytosis, Increased circulating IgE level, Hypereosinophilia |
ORPHA:2902 |
Atypical Rett Syndrome |
|
Restrictive behavior, Involuntary movements, Tremor, Inability to walk, Tongue thrusting, Limb my... |
ORPHA:3095 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Pontocerebellar Hypoplasia, Type 11 |
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Recurrent respiratory infections, Broad-based gait, Ataxia, Inability to walk, Poor coordination,... |
OMIM:617695 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Anorexia, Portal hypertension, Hypersplenism, Thrombocytop... |
ORPHA:98850 |
Corticobasal Syndrome |
|
Limb dystonia, Speech apraxia, Parkinsonism, Akinesia, Limb apraxia, Tremor, Involuntary movement... |
ORPHA:454887 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
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Increased circulating IgE level |
OMIM:144200 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Microcytic anemia, Cong... |
ORPHA:90308 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Hypermanganesemia With Dystonia 1 |
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Elevated hepatic transaminase, Hepatomegaly, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor f... |
OMIM:613280 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... |
OMIM:208250 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ... |
OMIM:618718 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Anorexia, Weight loss |
ORPHA:2023 |
Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, ... |
ORPHA:167 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disi... |
OMIM:168605 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Hepatomegaly, Necrotizing enterocolitis, Hepatocellular necrosis, Periportal fibrosis, Lethargy, ... |
OMIM:201475 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... |
ORPHA:545 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O... |
OMIM:619028 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Bronchiectasis, Ulcerative colitis, Decreased circulating total ... |
OMIM:618394 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia, Histiocytosis |
ORPHA:139436 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ... |
OMIM:618917 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Periventricular heterotopia, Self-biting, Recurrent hand ... |
OMIM:300624 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... |
ORPHA:231401 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Lymphopenia, Ataxia, Tremor, Dec... |
ORPHA:100 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Cerebral palsy, Skin rash, Ataxia, Hemiplegia/hemiparesis, Splenomega... |
ORPHA:36412 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteom... |
OMIM:615978 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ... |
OMIM:301082 |
Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemi... |
ORPHA:75564 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention defici... |
OMIM:620065 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... |
ORPHA:53351 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Antiphospholipid antibody positivity, Rheumatoid factor positive, Skin rash, Increased ... |
OMIM:615934 |
Netherton Syndrome |
|
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level |
OMIM:256500 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... |
OMIM:150550 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... |
OMIM:612716 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia |
OMIM:261630 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbanc... |
ORPHA:216866 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglobulinemia |
OMIM:601457 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Overweight, Babinski sign, Spastic dysarthria, Difficulty walking, Dystonia, Spast... |
ORPHA:280763 |
Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:239500 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... |
OMIM:306400 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, G... |
ORPHA:275864 |
Immunodeficiency 92 |
|
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremi... |
OMIM:619652 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Ataxia, Clonus, Cachexia, Parkinsonism, Head titubation, I... |
ORPHA:300605 |
Roifman Syndrome |
|
Splenomegaly, Eosinophilia |
OMIM:616651 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Hyperkinetic m... |
ORPHA:93958 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weig... |
OMIM:137440 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutro... |
OMIM:301078 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Abnormality of the pan... |
ORPHA:54251 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Autoimmunity, Bronchiectasis, Decreased circulating antibody level, Increased circulat... |
ORPHA:397596 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmune hemolytic anemia, Autoimmunity, Anticardiolipin IgG antibody positivity, Reduced natur... |
OMIM:615559 |
Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Inability to walk, Gait ataxia, Progressive spasticity, Dysphag... |
DECIPHER:45 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Broad-based gait, Hyperactivity, Lower limb spasticity, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... |
OMIM:619644 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity |
OMIM:300983 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Autoimmunity, Glomerulonephritis, Synovitis, Arthritis, Decreased circulating compleme... |
ORPHA:567544 |
Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r... |
ORPHA:51636 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Cholestatic liver disease, Acholi... |
ORPHA:65682 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... |
ORPHA:562639 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Ataxia, Clonus, Tremor, Splenomegaly,... |
OMIM:615673 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Decreased circulat... |
ORPHA:3261 |
C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Antinuclear antibody positiv... |
OMIM:620321 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia, Small for gestational age |
OMIM:278780 |
Immunodeficiency 105 |
|
Skin rash, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... |
OMIM:619924 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor... |
ORPHA:240085 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Small for gestational age, Parkinsonism, Tremor, Rigidity, Dysphagia, Choreoathetosis, Br... |
OMIM:261640 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Inability to walk, Gray matter h... |
ORPHA:26791 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Recurrent infections, Truncal ataxia, Action tremor |
ORPHA:210128 |
Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Abnormal nasopharyngeal adenoi... |
ORPHA:3392 |
Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp... |
ORPHA:77297 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating I... |
OMIM:619824 |
Aspergillosis |
|
Increased circulating IgE level, Eosinophilia, Neutropenia |
ORPHA:1163 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet gl... |
OMIM:603585 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... |
ORPHA:1416 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Spasticity, Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking |
OMIM:617393 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Tremor, Decreased circulating antibody level, Recurrent lower respirat... |
OMIM:617744 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Dysphagia, Blephar... |
OMIM:606159 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... |
OMIM:300755 |
Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Chronic oral candidiasis, Absent platelet dense granules, Reduced natura... |
OMIM:608233 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal a... |
OMIM:612541 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatic necrosis, Lethargy, Failure to thri... |
ORPHA:71212 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limitation of movement at ankles, Increased circulating IgG level, Limited elbow flexion, Limited... |
ORPHA:206594 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Eczema, Anorexia, Keratoconjunctivitis, Weight loss, Lethargy, Thrombocytopenia, Perioral... |
ORPHA:79242 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Aggressive behavior, Tremor, Paraparesis, Gait apraxia, B... |
OMIM:615157 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, ... |
OMIM:619752 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Recurrent respiratory infections, Tremor, Dysphagia, Myoclonus, Tongue fasciculations, Difficulty... |
OMIM:159950 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Dystonia, Loss of ambulation |
OMIM:617916 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Ataxia, Small for gestational age, Failure to thrive in infancy, R... |
OMIM:614104 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... |
ORPHA:240094 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Hepatic necrosis |
ORPHA:100093 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Weight loss |
ORPHA:141152 |
Ataxia-Telangiectasia |
|
Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circul... |
OMIM:208900 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... |
ORPHA:247815 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Self-injurious behavior, Abnormal repetitive man... |
OMIM:615637 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... |
ORPHA:139402 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Restlessness, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Br... |
OMIM:300055 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hyp... |
ORPHA:88 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Decrea... |
OMIM:615577 |
Brucellosis |
|
Liver abscess, Anorexia, Chorea, Knee osteoarthritis, Increased circulating IgG level, Abnormalit... |
ORPHA:1304 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... |
OMIM:606693 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis |
OMIM:231530 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,... |
OMIM:619510 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Invasive parasitic i... |
ORPHA:400 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Auto... |
ORPHA:436159 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Head titubation, Inability to walk, Rigidity, Truncal ataxia, Gait ataxia, ... |
OMIM:618877 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Paraplegia, Weight loss, Impaired oropharyngeal swallow response, Diff... |
ORPHA:98897 |
Immunodeficiency 96 |
|
Eczema, Decreased circulating total IgM, Defective T cell proliferation, Recurrent otitis media, ... |
OMIM:619774 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dystonia, Spastic paraparesis |
ORPHA:329284 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice |
ORPHA:79234 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Recurrent skin infections, Joint stiffness, Reduced bone mineral density, Decr... |
OMIM:620210 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Hypertonia, Hyperkinetic mo... |
OMIM:619738 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... |
OMIM:617241 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, ... |
OMIM:619317 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Decreased circulating antibody level |
OMIM:617425 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Hand tremor, Gait ataxia, Gait disturbance, D... |
ORPHA:98764 |
Boutonneuse Fever |
|
Skin rash, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exanthema |
ORPHA:83313 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Psoriasiform dermatitis, Ataxia, Recurrent ear infections, Re... |
ORPHA:221139 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Decreased proportion of class-switched m... |
OMIM:619705 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Leukocytosis, C... |
OMIM:615895 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Dysphagia, Clumsiness, Poor fine motor coordina... |
ORPHA:79263 |
Rett Syndrome |
|
Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Cholecystitis, Difficulty walkin... |
ORPHA:778 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... |
OMIM:612736 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash... |
ORPHA:829 |
Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Hepatic fibrosis, Hepatic steatosis, Self-mutilation, Hepatomegaly, Hemolytic anemia,... |
OMIM:619487 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Rheumatoid factor positi... |
ORPHA:91139 |
Rhabdoid Tumor |
|
Cerebral palsy, Thrombocytopenia, Lymphadenopathy, Weight loss, Neoplasm of the liver, Hemiplegia... |
ORPHA:69077 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Increased circul... |
ORPHA:37748 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Cerebral palsy, Small for gestational age, Eczema, Repetitive compulsive behavior,... |
ORPHA:352490 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Skin rash, ... |
ORPHA:809 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Invasive parasitic infection, Ataxia, ... |
ORPHA:158048 |
Glutathionuria |
|
Eczema, Tremor, Gray matter heterotopia, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Anorexia... |
ORPHA:824 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Ga... |
ORPHA:363400 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Spastic gait |
OMIM:600363 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Eczema, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired o... |
OMIM:618935 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Sepsis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Men... |
ORPHA:37042 |
Alexander Disease Type I |
|
Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Dysphagia, Palatal tremor, Failure to thrive |
ORPHA:363717 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive |
ORPHA:477673 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Inability to walk, Limb fasciculations, Aspiration pneumonia, Dysphagia |
ORPHA:90117 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Dysphagia, Spastic parapa... |
ORPHA:391417 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Recurrent respiratory i... |
OMIM:614162 |
Kaposi Sarcoma |
|
Recurrent herpes, Generalized lymphadenopathy, Skin rash, Abnormality of the spleen, Weight loss,... |
ORPHA:33276 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorde... |
OMIM:618342 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... |
ORPHA:70594 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Anorexia, Chronic infection, Thrombocytopenia, Leukocytosis, Weight loss, Lymphaden... |
ORPHA:520 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:2314 |
Typhoid |
|
Hepatomegaly, Ataxia, Skin rash, Tremor, Splenomegaly, Hypertonia, Lethargy, Infectious encephalitis |
ORPHA:99745 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media |
OMIM:300455 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dysphagia, Lethargy, Limb hy... |
OMIM:233910 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign, Dysphagi... |
ORPHA:52368 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation |
OMIM:614018 |
Choreoacanthocytosis |
|
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, ... |
ORPHA:2388 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... |
ORPHA:811 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Tremor, Myocarditis, Splenomegaly, Meningitis, Lymphadenopathy, Leth... |
ORPHA:83317 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia |
ORPHA:306669 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Christianson Syndrome |
|
Dystonia, Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repe... |
ORPHA:85278 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... |
OMIM:614069 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Chronic Hiccup |
|
Weight loss, Abnormal eating behavior |
ORPHA:396 |
Q Fever |
|
Anorexia, Abnormality of the liver, Cholecystitis, Meningitis, Infectious encephalitis, Hepatomeg... |
ORPHA:781 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss, Dysphagia |
ORPHA:2198 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Skin rash, Slender build, Chorea, Myoclonus, Attention deficit hyp... |
OMIM:617600 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Abnormal circulating IgA level, B... |
OMIM:241600 |
Hijazi-Reis Syndrome |
|
Lower limb spasticity, Recurrent respiratory infections, Recurrent ear infections, Ankle clonus, ... |
OMIM:301094 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Abnormality of the liver, Spasticity, Intention tremor |
OMIM:614307 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Isaacs Syndrome |
|
Fasciculations, Weight loss |
ORPHA:84142 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... |
OMIM:610185 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Incoordination, Skin rash, Ataxia, Jaundice, Slurred speech, Hepat... |
ORPHA:90062 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Abnormality of the elbow, Increased circulating IgE level, Abnormality of the wrist |
ORPHA:89843 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Thrombocytopenia, Patent ductus arteriosus, Sepsis, Paraplegi... |
OMIM:617053 |
Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal... |
ORPHA:232 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocy... |
ORPHA:514 |
Whipple Disease |
|
Hepatomegaly, Myositis, Pericarditis, Ataxia, Anorexia, Cachexia, Myocarditis, Splenomegaly, Medi... |
ORPHA:3452 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Recurrent infections, Recurrent bacterial infection... |
OMIM:612783 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Polydipsia, Weight loss |
ORPHA:30925 |
Cln5 Disease |
|
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... |
ORPHA:228360 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Aggressive behavior, Tremor, Myoclonus, Dysphagia |
ORPHA:97229 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Hematochezia, Cardiomyopathy, Gingival bleeding, Ecchymosis, ... |
OMIM:203300 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Central Diabetes Insipidus |
|
Anorexia, Weight loss, Lethargy, Polydipsia, Failure to thrive |
ORPHA:178029 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Splenic infarction, Leukocytosis, Recurre... |
OMIM:603903 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Hepatic periportal necrosis, Pachygyria, Hepatic steatosis |
OMIM:231680 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Intr... |
ORPHA:53035 |
Pneumocystosis |
|
Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Weight loss, Acute infectious pneumo... |
ORPHA:723 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Abnormal repetitive mannerisms |
OMIM:619092 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Peritoneal effusion, Cryptococcal meningitis, Weight loss, Decreased circulating ant... |
ORPHA:90362 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Lymphadenopathy, Dysphagia |
ORPHA:50251 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity |
ORPHA:98827 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Increased body weight, Agitation, Pancreatic islet-cell hyperplasia, Lethargy |
ORPHA:276608 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Chorea, Colitis, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Jeavons Syndrome |
|
Limb myoclonus, Abnormal head movements |
ORPHA:139431 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Dysphagia,... |
OMIM:616795 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Generalized dystonia, Ataxia, Tremor, Splenomegaly, Patent duct... |
ORPHA:354 |
Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait disturbance, Progressive... |
OMIM:210000 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Hand tremor, Dysmetria, Tip-toe gait, Gait di... |
OMIM:302800 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Impaired T cell function, Tremor, Splenomegaly, Recurrent candida infection... |
OMIM:201100 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal py... |
ORPHA:240071 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Cachexia, Weight loss |
OMIM:613662 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Weight loss, Failure to thrive, Cachexia, Gait ataxia |
OMIM:612075 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash |
OMIM:609939 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... |
OMIM:611762 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Impulsivity, Rigidity, Dysphagia, Weight loss, Bradykines... |
ORPHA:411602 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... |
OMIM:312080 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Uveitis, Self-injurious behavior, Attention deficit hyperactivity disor... |
OMIM:617044 |
Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Tremor, Splenomegaly, Lymphadenopathy, Erythroderma,... |
ORPHA:3162 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Sepsis, Recurrent infections, Weig... |
ORPHA:764 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Rigidity, ... |
OMIM:607483 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Overweight, Hyperkinetic movements, Gait disturbance, Upper limb spasticity, Abnormal rep... |
ORPHA:457240 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Hypermanganesemia With Dystonia 2 |
|
Limb dystonia, Generalized dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scis... |
OMIM:617013 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Recurrent respiratory infections, Ataxia, Rigidity, Inability to walk, Rep... |
OMIM:300260 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Sandifer Syndrome |
|
Anemia, Abnormal head movements, Torticollis, Esophagitis |
ORPHA:71272 |
Postinfectious Vasculitis |
|
Anorexia, Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal infla... |
ORPHA:48435 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Recurrent upper respiratory tract infections... |
ORPHA:225147 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Retrobulbar optic neuritis, Meningitis, L... |
ORPHA:1451 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadocho... |
ORPHA:254881 |
Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Aggress... |
OMIM:612953 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
Relapsing Fever |
|
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopen... |
ORPHA:91547 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder, Failure ... |
OMIM:619556 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Dystonia, Ataxia, Bone-marrow foam cells, Splenomegaly, Jaundice, Prolonged neonata... |
OMIM:607625 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Autoimmunity, Increased circulating IgE level, Inc... |
ORPHA:449432 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms |
OMIM:612069 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis |
ORPHA:79099 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Recurrent ear infections, Tremor, Oromotor apraxia, Failure to thr... |
ORPHA:300536 |
Vici Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Failure to thrive, Lymphopenia... |
OMIM:242840 |
Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Splenomegaly, Babinski sign, Abnormal pyramidal sign, Vacuolated lymphocytes, Limb ... |
OMIM:248500 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Ataxi... |
OMIM:610377 |
Acquired Purpura Fulminans |
|
Shock, Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal ... |
ORPHA:49566 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal... |
ORPHA:284 |
Immunodeficiency 22 |
|
Pericarditis, Autoimmunity, Decreased circulating total IgM, Panniculitis, Decreased circulating ... |
OMIM:615758 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Sepsis, Nep... |
ORPHA:2552 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... |
ORPHA:85436 |
Systemic Lupus Erythematosus |
|
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... |
OMIM:152700 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Recurrent pneumonia |
OMIM:616069 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Paraproteinemia, Decreased circulating co... |
ORPHA:329918 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Gait disturbance, Recurrent hand fla... |
ORPHA:544254 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Failure to thrive, Macrocytic anemia, Ataxia, Pancytopenia, Erythroid hypoplasia, R... |
OMIM:275350 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Recurrent abscess fo... |
OMIM:619381 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Recurrent pneumonia, Neutropenia, Opisthotonus, Choreoathetosis, Recurrent infect... |
OMIM:616271 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym... |
ORPHA:83469 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... |
ORPHA:171 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Hypertonia, Hepatic steatosis, Hepatomegaly, Hem... |
OMIM:615846 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Inflammation of the large intestine, Lymphadenopathy, Weight loss |
ORPHA:26790 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos... |
OMIM:260920 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent urinary tract infections, Anorexia, Leukocytosis, Decreased body weight, Recurrent infe... |
ORPHA:51890 |
Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclonus, Self-injurio... |
ORPHA:208447 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... |
ORPHA:508533 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling |
ORPHA:1525 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ataxia, Thrombocytosis, Anorexia... |
ORPHA:20 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dystonia, Spastic pa... |
OMIM:300894 |
Nipah Virus Disease |
|
Anorexia, Tremor, Recurrent pharyngitis, Myoclonus, Infectious encephalitis |
ORPHA:99825 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Ataxia, Portal hypertension, Leukocytosis, Decre... |
OMIM:615688 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors |
OMIM:619405 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Limb dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination, Tremor, Spas... |
ORPHA:352649 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis... |
ORPHA:702 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Failure to thrive in infancy, Increased circulating IgA level, Leukocyto... |
OMIM:617099 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Neuromuscular dysphagia, Slurred speech, Tetraplegia, Clum... |
ORPHA:206443 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Skin rash, Ataxia, Anor... |
ORPHA:50918 |
Ogden Syndrome |
|
Abnormal head movements, Torticollis, Hypertonia, Shuffling gait, Lethargy |
ORPHA:276432 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia, Self-mutilation |
ORPHA:52503 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Tremor, Abnormality of neuronal migration, ... |
OMIM:300957 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Hepatomegaly, Hyperactivity, Elevated hepatic transaminase, Tremor, Keratitis, Jaun... |
ORPHA:525731 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Hemophagocytosis, Weight loss |
ORPHA:86884 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Postural tremor, Ataxia, Tremor, Babinski sign, Dysmetria, Dysphagia, Dystonia, Loss of ambulatio... |
OMIM:607694 |
Idiopathic Bronchiectasis |
|
Cachexia, Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infectious pneumonia... |
ORPHA:60033 |
Secondary Non-Traumatic Avascular Necrosis |
|
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Recurrent viral infections, Sepsis, Hepatic steatosis, Decreased proportion o... |
OMIM:619573 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Ataxia, Paraplegia, Agitation, Lethargy, Failure to thrive, Abnormal repetitive man... |
ORPHA:927 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level |
OMIM:618042 |
Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B virus antibo... |
ORPHA:90003 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
Aceruloplasminemia |
|
Refractory anemia, Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Ri... |
ORPHA:48818 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Hemiparesis, Self-injurious behavior, B... |
OMIM:618004 |
Igg4-Related Thyroid Disease |
|
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr... |
ORPHA:64744 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Pustule, Overweight, Leukocytosis, Cheilitis, Uveitis, Obesity, Se... |
ORPHA:247353 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athe... |
OMIM:617710 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ataxia, Thrombocytosis, Anorexia, Leukocytosis, Weight loss, Agitation, Extrapyrami... |
ORPHA:134 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Recurrent infections, Weight loss |
ORPHA:704 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis |
OMIM:120100 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Limb hypertonia, Failure to thrive, Dysphagia |
OMIM:617162 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Obsessive-compulsive ... |
ORPHA:36387 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Recurrent respiratory infections, Patent ductus arteriosus, Weight loss, Failure to... |
ORPHA:1842 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye |
ORPHA:33577 |
Rett Syndrome |
|
Dystonia, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Bruxism, Spasticity, Stereotypical... |
OMIM:312750 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Failure to thrive in infancy, Pustule, Recurrent tonsillitis, Atopic dermatitis, W... |
ORPHA:171876 |
48,Xxyy Syndrome |
|
Recurrent respiratory infections, Ataxia, Tremor, Obesity, Attention deficit hyperactivity disord... |
ORPHA:10 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Anorexia, Weight loss |
ORPHA:1302 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... |
OMIM:613673 |
Takayasu Arteritis |
|
Increased inflammatory response, Anorexia, Weight loss, Arthritis, Inflammatory abnormality of th... |
ORPHA:3287 |
Zika Virus Disease |
|
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Increased circulating IgM lev... |
ORPHA:448237 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Recurrent infections, Eczema, Weight loss |
ORPHA:703 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Autoimmunity,... |
ORPHA:158061 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Dysmetria |
OMIM:615578 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Psoriasis 1, Susceptibility To |
|
Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Unsteady gait, Slurred speech, Babinski sign, Clumsiness, Poor fine motor... |
ORPHA:137898 |
Wolman Disease |
|
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Anemia |
ORPHA:75233 |
Isolated Succinate-Coq Reductase Deficiency |
|
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Lower limb hypertonia, Spastic parapare... |
ORPHA:3208 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time,... |
ORPHA:335 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-posit... |
ORPHA:133 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Ataxia, Pneumonia, Recurrent viral infections, Recurrent pneumonia, ... |
ORPHA:420741 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Decreased liver function, Oculomotor apraxia |
OMIM:614867 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma |
OMIM:614328 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Poor motor coordination, Parkinsonism, Clumsiness, Poor fine motor coordination, Aspiration pneum... |
ORPHA:79264 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:619690 |
Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Lymphadenitis, Increased circulating IgG level, Tubulointerstitial ne... |
ORPHA:449395 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Listeriosis |
|
Liver abscess, Tremor, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjun... |
ORPHA:533 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Severe periodon... |
ORPHA:99843 |
Shigellosis |
|
Failure to thrive in infancy, Pneumonia, Anorexia, Abscess, Myocarditis, Peritonitis, Leukocytosi... |
ORPHA:810 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Pneumonia, Severe infection, Leukocytosis, Sepsis, Acute infectious pneumonia, Leuk... |
ORPHA:36238 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Recurrent respiratory infections, Skin rash, Perianal abscess, Weight loss, Ar... |
OMIM:301074 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Normocytic anemia, Inflammatory abnormality of the skin, Macrocyti... |
ORPHA:398063 |
Sneddon Syndrome |
|
Tremor, Decreased circulating total IgM, Hemiplegia, Lymphopenia |
OMIM:182410 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... |
OMIM:300853 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore... |
OMIM:619580 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... |
ORPHA:298 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Portal hypertension, Rigidity, Splenomegal... |
ORPHA:309854 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia |
ORPHA:183 |
Rheumatoid Arthritis |
|
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... |
OMIM:180300 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Prolonged prothrombin time, Epistaxis |
OMIM:610842 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increased circulat... |
ORPHA:2298 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Mycobacterium abscessus abscessus infection, Bronchiectasis, Lymphadenopathy, Weight loss, Dissem... |
ORPHA:411703 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Jaundice, Unsteady ... |
OMIM:615512 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit... |
OMIM:266600 |
Childhood Absence Epilepsy |
|
Limb myoclonus, Punding, Jerky head movements, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Decreased circulating ant... |
OMIM:613011 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... |
ORPHA:98794 |
Bloom Syndrome |
|
Recurrent herpes, Severe varicella zoster infection, Uveitis, Otitis media, Decreased circulating... |
ORPHA:125 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Eczema, Thyroiditis, Weight loss, Iron ... |
OMIM:212750 |
Igg4-Related Pachymeningitis |
|
Eosinophilia, Increased circulating IgG4 level |
ORPHA:449427 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Dysphagia, Bradykinesia, G... |
OMIM:615530 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention defici... |
OMIM:619680 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Gout... |
OMIM:232220 |
Spontaneous Periodic Hypothermia |
|
Tremor, Gait disturbance, Skin rash, Ataxia |
ORPHA:29822 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia |
ORPHA:199299 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Recurrent pneumonia, Abnormal repetitive mannerisms, Hepatosplenomegaly |
ORPHA:397612 |
Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatomegaly, Glomerulonephritis, Thrombocytopenia, Decreased circ... |
ORPHA:470 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level |
OMIM:152800 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal sperm motility, Asplenia, Recurrent mycobacterial in... |
ORPHA:244 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Eczema, Aggressive behavior, Obesity, Self-injurious behavior, Skin-picking, Abnor... |
OMIM:600430 |
New-Onset Refractory Status Epilepticus |
|
Abnormal head movements, Infectious encephalitis |
ORPHA:363558 |
Nocardiosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Anorexia, Keratitis, Lympha... |
ORPHA:31204 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Restlessness, Hyperactivity, Decreased body mass index, Hepatomega... |
ORPHA:247585 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Arthritis, Conjunctivitis, Recurren... |
ORPHA:575 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... |
ORPHA:85408 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Hypertonia, Gait disturb... |
OMIM:300986 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia |
OMIM:158310 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aspiration pneumonia... |
ORPHA:99027 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Tremor, Chorea, Oculomotor apraxia, Truncal ataxia, Limb ataxia, Gait ataxia, Dystonia, L... |
OMIM:208920 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Eczema, Patent ductus arteriosus, Recurrent pneumonia, Recurrent otitis media, Pol... |
OMIM:617751 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Cachexia, Decreased liver function, Lethargy... |
ORPHA:42 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Weight loss, Arthritis, Inflammation of ... |
ORPHA:324964 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Hypertonia, Abnormal repetitive mannerisms, Simplified gyral pattern |
OMIM:619877 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... |
OMIM:234200 |
Thymoma |
|
Myositis, Autoimmunity, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Glomer... |
ORPHA:99867 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Perisylvian polymicrogyria, Scissor gait, Babinski sign, Dysmetria, Spastic ... |
OMIM:619121 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile ... |
ORPHA:85414 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Abnormal repetitive mannerisms, Anemia, Neutropenia |
OMIM:618067 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Multiple Myeloma |
|
Osteopenia, Increased circulating IgA level, Decreased circulating antibody level, Increased circ... |
ORPHA:29073 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... |
OMIM:620141 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Progressive Supranuclear Palsy |
|
Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Bradykinesia, Blepharospasm, Falls, Dyst... |
ORPHA:683 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... |
OMIM:301029 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Gait ataxia, Difficulty walking, Dystonia, Spasticity, Abnormal repetitive mann... |
OMIM:617807 |
Ménétrier Disease |
|
Helicobacter pylori infection, Anorexia, Hypochromic microcytic anemia, Weight loss, Giant hypert... |
ORPHA:2494 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Myocarditis, Meningitis, Leukocytosis, Thrombocytopeni... |
ORPHA:292 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Anorexia, Paralysis, Paraparesis, Jaundice, Thrombocyto... |
ORPHA:319251 |
Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Frequent falls, Tremor, Inability to walk, Dysmetri... |
ORPHA:845 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Recurrent respiratory infections, Hypertonia, Cachexia |
ORPHA:1389 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis, Weight loss |
OMIM:613239 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Leukocytosis, Weight loss, Pancreatitis |
ORPHA:188 |
Behçet Disease |
|
Myositis, Anorexia, Abnormal pyramidal sign, Meningitis, Infectious encephalitis, Acne, Ataxia, R... |
ORPHA:117 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li... |
OMIM:608643 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Flexion contracture |
ORPHA:171442 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Weight loss, Arthritis, Cirr... |
ORPHA:465508 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Sepsis, Increased circulating ... |
ORPHA:36234 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... |
ORPHA:3260 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Obesity, Compulsive behaviors, Spa... |
OMIM:618430 |
Classic Phenylketonuria |
|
Eczema, Tremor, Paraplegia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity ... |
ORPHA:79254 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, Dystonia, Short stepped ... |
OMIM:168600 |
Malt Lymphoma |
|
Recurrent respiratory infections, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Post... |
ORPHA:52417 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia, Co... |
ORPHA:67 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... |
ORPHA:228402 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Recurrent urinary tract infections, Ataxia, Tremor, Inability to walk, Ove... |
OMIM:619229 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Abnorma... |
ORPHA:646 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis |
OMIM:609536 |
Rett Syndrome, Congenital Variant |
|
Apraxia, Chorea, Tongue thrusting, Simplified gyral pattern, Bruxism, Athetosis, Dystonia, Spasti... |
OMIM:613454 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Speech apraxia, Broad-based gait, Aggressive behavior, Hypertonia, Gait disturbance, Attention de... |
OMIM:300352 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic choles... |
ORPHA:1333 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... |
ORPHA:70578 |
Erythrokeratodermia Variabilis |
|
Skin rash, Weight loss |
ORPHA:317 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Anorexia, Splenomegaly, Anemia |
ORPHA:2930 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki... |
OMIM:256040 |
Hepatoportal Sclerosis |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Pruritus, Hypersplenism, Thr... |
ORPHA:64743 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Aggressive behavior, Tremor, Patent ductus arteriosus, Recurrent infections, Self-injurious behav... |
OMIM:617061 |
Osteogenesis Imperfecta, Type Xvi |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:616229 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Osteomyelitis, Skin rash, Failure to thrive in infancy, Neutrophilia, Abscess, Pust... |
OMIM:612852 |
Transketolase Deficiency |
|
Hepatomegaly, Seborrheic dermatitis, Patent ductus arteriosus, Uveitis, Self-injurious behavior, ... |
ORPHA:488618 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis, Inc... |
OMIM:617591 |
Macs Syndrome |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:613075 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Osteolysis, Inc... |
ORPHA:228123 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis, D... |
OMIM:614381 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Tremor, Increased body we... |
ORPHA:263455 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy |
ORPHA:99978 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Gray matter heterotopia, Gait imbalanc... |
OMIM:619312 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Eczema, Mediastinal lymphadenopathy, Severe viral infection, Bronchiecta... |
ORPHA:79128 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Recurrent respiratory infections, Thrombocy... |
ORPHA:537 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Hypertonia, Difficulty walking, Re... |
OMIM:123450 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Bronchiectasis, Cholestasis, Hemiparesis... |
OMIM:620233 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Oromandibular dys... |
OMIM:614298 |
Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Weight loss |
OMIM:143880 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, Thr... |
OMIM:274000 |
Smith-Magenis Syndrome |
|
Hyperactivity, Self hugging, Increased body weight, Head-banging, Onychotillomania, Abnormal repe... |
OMIM:182290 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... |
ORPHA:33543 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Torticollis, Anorexia, Jaundice, Weight loss, Pancreatitis, Anemia |
ORPHA:370348 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... |
ORPHA:79078 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Tremor, Thrombocytopenia, Neutropenia, Lethargy, Failure to thrive, A... |
OMIM:251100 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Myoclonus, Spast... |
ORPHA:168491 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms, Myoclonus |
ORPHA:411986 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Eczema, Patent ductus arteriosus, Recurrent pneumonia, Recurrent otitis media, Polymicrogyria, Ab... |
ORPHA:500159 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Gait ataxia, Recurrent infections, Compulsive behaviors, Attention d... |
ORPHA:476126 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Thrombocytopenia 1 |
|
Increased circulating IgE level, Joint hemorrhage, Eczema, Increased circulating IgA level |
OMIM:313900 |
Medullary Thyroid Carcinoma |
|
Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, Dysphagia |
ORPHA:1332 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Chronic neutropenia, Enterocolitis, Ulcerative colitis, Gout, Thyroiditis, Hepatoce... |
ORPHA:79259 |
Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia |
OMIM:308300 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Vocal cord paralysis, Lymphadenopathy, Dysphagia |
ORPHA:142 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Glomerulonephritis, Head tremor |
OMIM:619428 |
Necrotizing Enterocolitis |
|
Neonatal sepsis, Small for gestational age, Peritonitis, Leukocytosis, Neutropenia, Lethargy, Thr... |
ORPHA:391673 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Sepsis, Weight loss |
ORPHA:388 |
Japanese Encephalitis |
|
Neutrophilia, Weakness due to upper motor neuron dysfunction, Anorexia, Paralysis, Tremor, Mening... |
ORPHA:79139 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Small for gestat... |
OMIM:557000 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Secondary Short Bowel Syndrome |
|
Enterocolitis, Cholestasis, Weight loss, Sepsis, Failure to thrive, Polyphagia |
ORPHA:95427 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Peritonitis, Limitation of joint mobility, Arthritis, Recurrent ... |
ORPHA:343 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Cystinosis |
|
Portal hypertension, Abnormal pyramidal sign, Gait disturbance, Polydipsia, Failure to thrive, Ab... |
ORPHA:213 |
Psoriasis 14, Pustular |
|
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis |
OMIM:614204 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Poor coordination, Poor fine motor coordination, Attention de... |
OMIM:620242 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Anorex... |
OMIM:181000 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Mic... |
ORPHA:66634 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Involuntary movements, Dysphagia, Spasticity, Pachygyria, Abnormal repetitive mannerisms |
ORPHA:572013 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Recurrent respiratory infections, Abnormali... |
ORPHA:36426 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations, Dysphagia |
OMIM:313200 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Abnormality of ... |
ORPHA:178320 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight loss, Arthritis, Keratoconj... |
OMIM:617321 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis |
OMIM:612387 |
Non-Functioning Paraganglioma |
|
Tremor, Vocal cord paralysis, Weight loss |
ORPHA:94080 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Tremor, Inabi... |
OMIM:615356 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... |
OMIM:616586 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Weight loss, Myoclonus, Failure to thrive, Anemia |
OMIM:256700 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na... |
ORPHA:540 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor |
ORPHA:713 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Skin rash, Partial IgA deficiency, Pustule, Acute otitis media, Recurrent pneumonia, Lack of T ce... |
ORPHA:35078 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation |
ORPHA:424 |
Fatal Familial Insomnia |
|
Weight loss, Ataxia, Myoclonus, Dysphagia |
OMIM:600072 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... |
ORPHA:100086 |
Incontinentia Pigmenti |
|
Eosinophilia |
ORPHA:464 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Ataxia, Tremor, Myoclonus, Dysphagia, Loss of ambulation, Right hemiplegia, Hepatic... |
OMIM:607426 |
Tick-Borne Encephalitis |
|
Speech apraxia, Elevated hepatic transaminase, Incoordination, Anorexia, Paralysis, Tremor, Throm... |
ORPHA:297 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Failure to thrive, Abnormal ... |
OMIM:610883 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Inability to walk, Hypertonia, Spasticity |
OMIM:616801 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper motor neur... |
ORPHA:530983 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Lymphopenia, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Tremor, Congenital hepa... |
ORPHA:1454 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Parkinson Disease 21 |
|
Tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:616361 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Flex... |
ORPHA:3409 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Bulimia, Se... |
OMIM:300912 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight |
OMIM:618347 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th... |
ORPHA:227990 |
Giant Cell Arteritis |
|
Pericarditis, Ataxia, Anorexia, Recurrent pharyngitis, Mediastinal lymphadenopathy, Weight loss, ... |
ORPHA:397 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Dystonia, Fai... |
ORPHA:261197 |
4Q21 Microdeletion Syndrome |
|
Tremor, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:238750 |
Polymyositis |
|
Hepatomegaly, Pericarditis, Anorexia, Weight loss, Arthritis, Gait disturbance |
ORPHA:732 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgA ... |
OMIM:242860 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Recurrent phar... |
ORPHA:32960 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Hypertonia, Tics, Otitis media, Compulsive behaviors, Decreased body weight, Abnormal rep... |
OMIM:619475 |
African Trypanosomiasis |
|
Tremor, Choreoathetosis, Conjunctivitis, Iritis, Hepatomegaly, Abnormal central motor function, P... |
ORPHA:3385 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy, Weight loss |
ORPHA:654 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... |
OMIM:618056 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Cystic Fibrosis |
|
Elevated hepatic transaminase, Recurrent Aspergillus infections, Recurrent respiratory infections... |
ORPHA:586 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Gait imbalance, Dystonia, ... |
ORPHA:2828 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia, Weight loss |
ORPHA:90060 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Abnormal repetitive manne... |
OMIM:619435 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Recurrent urinary tract infections, Patent ductus arteriosus, Recurrent pneumonia, Attention defi... |
OMIM:619293 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Lower limb spasticity, Hepatomegaly, Ataxia, Tremor, Uveitis, Gait... |
ORPHA:90321 |
Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level |
ORPHA:449563 |
Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Hepatomegaly, Ataxia, Uveitis, Gait disturbance, Conjunctivitis, Difficult... |
ORPHA:90322 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th... |
ORPHA:227982 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss |
OMIM:191390 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysphagia, Progressive gait at... |
OMIM:606002 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic... |
OMIM:608710 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Tremor, Cholestatic liver disease, C... |
ORPHA:79095 |
Chromomycosis |
|
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca, Lymphangiectasis |
ORPHA:182 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620292 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Joubert Syndrome 6 |
|
Ataxia, Bile duct proliferation, Hepatic fibrosis, Oculomotor apraxia, Abnormal repetitive manner... |
OMIM:610688 |
Wilson Disease |
|
Acute hepatic failure, Tremor, Osteoarthritis, Hand tremor, Limb dystonia, Hepatic steatosis, Hep... |
OMIM:277900 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Dysphagia, Focal dystonia, Bradykinesia, Clumsiness, Parkinsoni... |
ORPHA:199351 |
Cogan Syndrome |
|
Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam... |
ORPHA:1467 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Spasticity,... |
OMIM:610042 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
Prolidase Deficiency |
|
Eczema, Recurrent pneumonia, Crusting erythematous dermatitis, Systemic lupus erythematosus, Incr... |
OMIM:170100 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor, Weight loss |
ORPHA:99819 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ... |
ORPHA:449291 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Tetraparesis |
ORPHA:85277 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Failure to thrive, Ataxia, Tremor, Dys... |
OMIM:212065 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:613443 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Inability to walk, Simplified gyral pattern, Spastic tetraplegia, Sp... |
ORPHA:300570 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus, Recurrent infectio... |
ORPHA:206436 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pneumonia, Anorexia, Chronic noninfectious lymphadenopathy, Weight loss, Hepatic fa... |
ORPHA:97287 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Dystonia, Ataxia, Recurrent pneumonia, Tetraplegia, Fasciculations, Progressive spasticity, Dysph... |
ORPHA:496641 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Severe temper tantrums, Compulsive behaviors, Recurrent otitis media, Abnormal rep... |
OMIM:618027 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Wei... |
ORPHA:100080 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Cachexia, Bone-marrow foam cells, ... |
ORPHA:275761 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Skin rash, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, He... |
OMIM:603553 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hemiplegia/hemiparesis, Abnormal pyramidal s... |
ORPHA:144 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Dysphagia, Thrombocytopenia |
OMIM:222300 |
Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Broad-based gait, Unsteady gait, Attention deficit hyperactivity disorder, Abnorm... |
OMIM:618205 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... |
OMIM:618825 |
Castleman Disease |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Jaundice, Throm... |
ORPHA:160 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Meningitis, Leukoc... |
OMIM:249100 |
Hyperlysinemia |
|
Hyperactivity, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Recurrent ... |
ORPHA:2203 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Weight loss |
ORPHA:2221 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Erythroderma |
ORPHA:312 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Self-injurious behavior, Limb dystonia, Spasticity, Abnormal repetitive manner... |
ORPHA:457351 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyp... |
ORPHA:98784 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Recurrent respiratory infections, Incoordination, Gait ataxia, Abnormal repetitive mannerisms, Ov... |
OMIM:616579 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss, Acute leukemia |
ORPHA:729 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Osteolysis, Rh... |
ORPHA:100026 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Anemia |
OMIM:244460 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Hepatosplenomegaly, Weight loss, Tubulointerstitial nephritis, Lymphadenopathy, Abn... |
ORPHA:85450 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopath... |
ORPHA:2330 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Increased circulating IgG level, Leukope... |
ORPHA:99827 |
Netherton Syndrome |
|
Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro... |
ORPHA:634 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hemiplegia/hemiparesis, Abnormal pyramidal s... |
ORPHA:440437 |
Lymphatic Filariasis |
|
Hypereosinophilia |
ORPHA:2035 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hem... |
ORPHA:512 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Aredyld Syndrome |
|
Splenomegaly, Hepatomegaly, Cachexia |
ORPHA:1133 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Inability to walk, Recurrent lower respiratory tract infections, Abnormal repetitive mannerisms, ... |
OMIM:617802 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Aggressive behavior, Patent ductus arteriosus, Obesity, Recurrent i... |
OMIM:616364 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Intermediate ... |
ORPHA:91500 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Hypertonia, Abnormal r... |
OMIM:618914 |
Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Aggressive behavior, Impulsivity, Chorea, Ab... |
ORPHA:2131 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Spasticity, Babinski sign, Cachexia, Dystonia |
OMIM:618186 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Skin rash, Small for gestational age, Tremor, Abnormality of the p... |
ORPHA:69665 |
Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Obesity, Self-injurious behavior, Gait disturbance, Attention defic... |
ORPHA:819 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Small for gestational age, Overweight, Pica, Obsessive-compulsive trait, Abnormal ... |
OMIM:617796 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Hyperactivity, Cachexia, Aggressive behavior, Tremor, Obesity |
ORPHA:85293 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Decreased circulating IgG level, Joint stiffness |
ORPHA:1493 |
Coffin-Siris Syndrome 6 |
|
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In... |
ORPHA:542323 |
Congenital Tufting Enteropathy |
|
Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis, Failure to thrive |
ORPHA:92050 |
Marburg Hemorrhagic Fever |
|
Anorexia, Uveitis, Leukopenia, Lethargy, Abnormal lymphocyte morphology, Reticulocytosis, Maculop... |
ORPHA:99826 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... |
ORPHA:99901 |
Acrodermatitis Enteropathica |
|
Anorexia, Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis |
ORPHA:37 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Pancytopenia, Cachexia, Paralysis, Abnormality of the spleen, Splenomegaly, Spa... |
ORPHA:2072 |
Flynn-Aird Syndrome |
|
Ataxia, Cachexia |
ORPHA:2047 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting |
ORPHA:3306 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme... |
ORPHA:522077 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Wei... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Wei... |
ORPHA:100082 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Focal polymicrogyria, Head-banging, Attention deficit hyperac... |
OMIM:619103 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Cachexia |
ORPHA:1933 |
Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Recurrent respiratory infect... |
ORPHA:900 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Tremor, Patent ductus arteriosus, Fasciculations, Dysgyria, Limb hy... |
OMIM:620327 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Failure to thrive, Aplasia/Hypoplasia of the thymus |
ORPHA:2176 |
Familial Glucocorticoid Deficiency |
|
Recurrent urinary tract infections, Anorexia, Tetraplegia, Weight loss, Recurrent infections, Fai... |
ORPHA:361 |
Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy, Prolonged prothrombin time |
OMIM:616483 |
Myasthenia Gravis |
|
Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a... |
ORPHA:589 |
Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Med... |
ORPHA:97289 |
Yellow Fever |
|
Abnormal bleeding, Shock, Neutrophilia, Skin rash, Supraventricular arrhythmia, Excessive bleedin... |
ORPHA:99829 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis, Weight loss |
OMIM:188580 |
Cap Polyposis |
|
Atrophic gastritis, Weight loss |
ORPHA:160148 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive be... |
OMIM:613174 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Bruxism |
OMIM:616351 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Increased circulating ant... |
ORPHA:77259 |
Al Amyloidosis |
|
Hepatomegaly, Howell-Jolly bodies, Weight loss, Abnormality of the liver, Increased circulating a... |
ORPHA:85443 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Wei... |
ORPHA:100075 |
Encephalitis Lethargica |
|
Parkinsonism, Recurrent viral infections, Tremor, Increased circulating antibody level, Lethargy |
ORPHA:83600 |
Erdheim-Chester Disease |
|
Osteomyelitis, Skin rash, Ataxia, Retroperitoneal fibrosis, Weight loss, Polydipsia, Anemia |
ORPHA:35687 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Self-injurious behavior, Spastic tetraplegia, Cachexia |
ORPHA:371364 |
Rauch-Steindl Syndrome |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Failure to thrive, Abnormal repetitive manneris... |
OMIM:619695 |
Alazami Syndrome |
|
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... |
ORPHA:319671 |
Say-Barber-Miller Syndrome |
|
Eczema, Craniosynostosis, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Hip dislo... |
ORPHA:3132 |
Overlap Myositis |
|
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste... |
ORPHA:206572 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, Enthesitis, Weight loss... |
ORPHA:29207 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Aggressive behavior, Patent ductus arteriosus, Unsteady gait, Tongue thrusting,... |
OMIM:606232 |
Alg12-Cdg |
|
Ulnar deviation of the wrist, Partial absence of specific antibody response to Haemophilus influe... |
ORPHA:79324 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant... |
OMIM:600802 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Tremor, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged n... |
OMIM:274150 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Patent ductus arteriosus, Jaundice, Neutropenia, Hypertonia, Dysphagia,... |
OMIM:617248 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... |
ORPHA:244242 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pruritus, Hypotension, Mastocytosis, Arrhythmia |
ORPHA:2135 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Ano... |
ORPHA:49041 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Aggressive behavior, Unsteady gait, Hypertonia, Failure to thrive, Abnormal repetitive mannerisms... |
OMIM:212066 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Babinski sign, Hypertonia, Inappropriate laughter, Spasticity, Failure to thrive, Abnormal repeti... |
OMIM:615802 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Weight loss, Progressive gait at... |
OMIM:607459 |
Polyarteritis Nodosa |
|
Pericarditis, Weight loss |
ORPHA:767 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Chore... |
ORPHA:94093 |
Poems Syndrome |
|
Lymphadenopathy, Weight loss, Increased circulating antibody level, Thrombocytosis, Polycythemia |
ORPHA:2905 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia, Addictive alcohol use |
ORPHA:1930 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Spasticity, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Overweight, Head-banging, Self-injurious behavior, Attention de... |
OMIM:619575 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Obesity, Decreased circulating total IgM, Jerky head movements, Decreas... |
ORPHA:369837 |
Spondyloenchondrodysplasia |
|
Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ant... |
ORPHA:1855 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Eczema, Chronic decreased cirulating IgG2, Chronic oral candidiasis,... |
OMIM:615607 |
22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Aplasia/Hypoplasia of t... |
ORPHA:1727 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... |
OMIM:607143 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Clumsiness, Attention deficit hyperactivity disorder, Compulsive behaviors, Juvenile rheu... |
OMIM:615656 |
Hydroxykynureninuria |
|
Stomatitis, Hypertonia, Abnormal repetitive mannerisms |
ORPHA:79155 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Extrapyramidal muscular rigidity, Chilblains, Neonatal a... |
ORPHA:51 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, Hypertonia, Cirrhosis, Spasticity, Failure to thr... |
OMIM:616539 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia... |
OMIM:601104 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apraxia, ... |
OMIM:607485 |
Sarcoidosis |
|
Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:797 |
Bainbridge-Ropers Syndrome |
|
Failure to thrive, Inability to walk, Recurrent infections, Self-injurious behavior, Hypertonia, ... |
OMIM:615485 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Kleefstra Syndrome 1 |
|
Recurrent respiratory infections, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal re... |
OMIM:610253 |
Parkinson Disease 4, Autosomal Dominant |
|
Parkinsonism, Weight loss |
OMIM:605543 |
Osteopetrosis, Autosomal Recessive 7 |
|
Recurrent pneumonia, Decreased circulating total IgM, Osteopetrosis, Decreased circulating IgG le... |
OMIM:612301 |
Developmental And Epileptic Encephalopathy 100 |
|
Recurrent respiratory infections, Chorea, Gait ataxia, Choreoathetosis, Myoclonus, Dysphagia, Pac... |
OMIM:619777 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
Primary Biliary Cholangitis |
|
Autoimmunity, Increased circulating IgA level, Antinuclear antibody positivity, Osteoporosis, Hep... |
ORPHA:186 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Vocal cord paralysis, Weight loss |
ORPHA:276621 |
3P25.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Patent ductus arteriosus, Ataxia, Attention deficit hyperactivity... |
ORPHA:435638 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Hepatosplenomegaly, Prolon... |
ORPHA:367 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l... |
OMIM:607944 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Weight loss |
ORPHA:79127 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Weight loss |
ORPHA:330001 |
Lyme Disease |
|
Arthritis, Infectious encephalitis, Uveitis, Meningitis |
ORPHA:91546 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Hemolytic anemia, Autoimmun... |
ORPHA:647 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:228384 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... |
OMIM:615508 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Cachexia, Anorexia |
OMIM:175500 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Eczema, Periventricular heterotopia, Pachygyria, Abnormal pyramidal sign, Simplified gyral patter... |
ORPHA:468631 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Hyperactivity, Recurrent respiratory infections, Clonus, Hair-pulling, Hyp... |
ORPHA:447997 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Skin rash, Anorexia, Acanthocytosis, Intrahepatic cholest... |
ORPHA:97280 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Keratitis, Weight loss, Aspiration pneumonia, Dysphagia, Failur... |
ORPHA:1018 |
Nmda Receptor Encephalitis |
|
Oculogyric crisis, Involuntary movements, Rigidity, Hypersexuality, Chorea, Neoplasm of the thymu... |
ORPHA:217253 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased hemoglobin concentration, Attention deficit hyperactivity disorder, Decre... |
OMIM:619005 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Increased circulating antibody level, Hepatitis, Maculopapular exanthema |
ORPHA:319218 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time, Pulmonic stenosis |
OMIM:616559 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Speech apraxia, Abnormal repetitive mannerisms |
ORPHA:529965 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Ataxia, Tremor, Hemiplegia/hemiparesis, Osteoarthritis... |
ORPHA:355 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Aggressive behavior, Obesity, Hepatosplenomegaly, Cholecystitis, Recurrent otitis m... |
OMIM:301066 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Thrombocytopenia |
OMIM:267700 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function |
OMIM:614576 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Aggressive behavior, Patent ductus arteriosus, Unsteady gait, Polyp... |
ORPHA:96121 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620040 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Orthostatic hypotension, Arterial rupture, Mitral regurgitation, Abnorma... |
ORPHA:287 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Liver Failure, Infantile, Transient |
|
Prolonged prothrombin time, Decreased circulating IgG level |
OMIM:613070 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Aggressive behavior, Obesity, Self-injurious behavior, Chronic ... |
ORPHA:261494 |
Mucolipidosis Type Ii |
|
Recurrent respiratory infections, Inability to walk, Splenomegaly, Hepatosplenomegaly, Weight los... |
ORPHA:576 |
2Q37 Microdeletion Syndrome |
|
Eczema, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal repetit... |
ORPHA:1001 |
Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Ataxia, Cachexia, Anorexia, Splenomegaly, Leukopenia, Slender build,... |
ORPHA:1328 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Obesity, Attention deficit hyperactivity disorder, Weight loss |
ORPHA:251071 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Tremor, Weight loss, Difficulty walking, Dysphagia |
OMIM:164310 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Glossopharyngeal Neuralgia |
|
Weight loss, Vocal cord paralysis, Oral-pharyngeal dysphagia |
ORPHA:221098 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Abnormal repetitive mannerisms |
ORPHA:457279 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... |
OMIM:616393 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Extrahepatic cholesta... |
ORPHA:97283 |
Pilarowski-Bjornsson Syndrome |
|
Speech apraxia, Abnormal repetitive mannerisms |
OMIM:617682 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Salt craving, Anorexia, Weight loss, Recurrent acute respiratory tract infecti... |
ORPHA:95409 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Small for gestational age, Patent ductus arteriosus, Abnormality of neuronal migration, Recurrent... |
ORPHA:464311 |
Lassa Fever |
|
Increased circulating IgM level, Conjunctivitis |
ORPHA:99824 |
Pancreatoblastoma |
|
Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Weight loss |
ORPHA:677 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Mogs-Cdg |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:79330 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... |
ORPHA:2273 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Neoplasm of the liver, Weight loss |
ORPHA:2126 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Prolonged prothrombin time |
OMIM:214950 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Exocrine pancreatic ins... |
ORPHA:309031 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Cachexia |
ORPHA:217346 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Extrahepatic cholesta... |
ORPHA:97282 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Weight loss, Dysphagia, Slender build, Allodynia |
OMIM:603041 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Splenomegaly, Prolonged prothrombin time |
OMIM:613812 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Antiphospholipid Syndrome, Familial |
|
Keratitis, Scleritis, Iritis, Autoimmune thrombocytopenia |
OMIM:107320 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... |
ORPHA:728 |
Mucopolysaccharidosis-Plus Syndrome |
|
Flexion contracture, Recurrent pneumonia, Increased circulating IgM level, Bone marrow hypocellul... |
OMIM:617303 |
Hereditary Xanthinuria |
|
Arthropathy, Rheumatoid arthritis, Gout |
ORPHA:3467 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... |
ORPHA:79102 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron defic... |
ORPHA:100078 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Viss Syndrome |
|
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... |
OMIM:619472 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Vocal cord paralysis, Weight loss |
ORPHA:29072 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
Trichothiodystrophy 1, Photosensitive |
|
Keratoconjunctivitis sicca, Decreased circulating IgG level, Flexion contracture, Erythroderma |
OMIM:601675 |
Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time |
ORPHA:95428 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Small for gestational age, Eczema, Patent ductus arteriosus, Recurrent infections,... |
ORPHA:464306 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Extrahepatic cholesta... |
ORPHA:97278 |
White-Sutton Syndrome |
|
Hyperactivity, Incoordination, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive ... |
ORPHA:468678 |
Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Abnormal repetitive mannerisms, Myoclonus |
OMIM:300672 |
Congenital Tricuspid Stenosis |
|
Rheumatoid arthritis, Bacterial endocarditis |
ORPHA:95459 |
Juvenile Xanthogranuloma |
|
Iritis, Blepharitis, Myeloproliferative disorder, Uveitis |
ORPHA:158000 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Hyperactivity, Impulsivity, Aggressive behavior, Recurrent ear infections, Splenome... |
ORPHA:580 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Neoplasm of the thymus, Intrahepatic cholestasi... |
ORPHA:97261 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Eosinophilia |
ORPHA:75565 |
Mgat2-Cdg |
|
Osteopenia, Decreased circulating antibody level, Decreased lymphocyte proliferation in response ... |
ORPHA:79329 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Failure to thrive, Repetitive compulsive behavior, Gait ataxia, Stereotypical b... |
ORPHA:513456 |
Prader-Willi Syndrome Due To Translocation |
|
Recurrent respiratory infections, Patent ductus arteriosus, Obesity, Head-banging, Abnormal tempe... |
ORPHA:177907 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Anorexia, Jaundice, Hepatitis, Uveitis, Lymphadenopathy, O... |
ORPHA:509 |
Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegal... |
ORPHA:79277 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Cachexia, Action tremor, Inability to walk, ... |
ORPHA:191 |
Bloom Syndrome |
|
Bronchiectasis, Malar rash, Decreased circulating total IgM, Decreased circulating IgG level, Dec... |
OMIM:210900 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ataxia, Weight loss, Apraxia, Pancreatic hypoplasia, Reduced pancreatic beta c... |
ORPHA:99885 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Prolonged bleeding time, Tachycardia |
OMIM:618280 |
Juvenile Dermatomyositis |
|
Myositis, Pericarditis, Skin rash, Weight loss, Arthritis, Dysphagia |
ORPHA:93672 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Fasciitis, Osteomyelitis, Hyperactivity, Abscess, Impulsivity, Tooth abscess, Recurr... |
ORPHA:642 |
Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level |
OMIM:616395 |
Malignant Atrophic Papulosis |
|
Peritonitis, Arteritis, Weight loss |
ORPHA:679 |
Hermansky-Pudlak Syndrome |
|
Neutropenia, Anorexia, Weight loss |
ORPHA:79430 |
Addison Disease |
|
Normocytic anemia, Salt craving, Anorexia, Thiamine-responsive megaloblastic anemia, Thymoma, Wei... |
ORPHA:85138 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Spasticity, Skin rash, Ataxia |
ORPHA:220295 |
Infantile Liver Failure Syndrome 3 |
|
Splenomegaly, Prolonged prothrombin time |
OMIM:618641 |
Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Impaired T cell function, Abnormal lymphocyte physiology |
ORPHA:1830 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent respiratory infections, Tremor, Splenomegaly, Lymphadenopathy, Chronic rh... |
ORPHA:667 |
Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Ataxia |
ORPHA:2479 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Prolonged prothrombin time, Pulmonic stenosis |
OMIM:614300 |
Monosomy 13Q34 |
|
Hematochezia, Prolonged prothrombin time, Epistaxis, Pulmonic stenosis |
ORPHA:96168 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Pancytopenia, Anorexia, Urinary bladder inflammation, B... |
ORPHA:99921 |
Lead Poisoning |
|
Abnormality of humoral immunity, Tubulointerstitial nephritis, Increased circulating IgE level, S... |
ORPHA:330015 |
Sialuria |
|
Prolonged prothrombin time, Hepatosplenomegaly |
ORPHA:3166 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Autoimmunity, Decreased circulating antibody level, Decreased c... |
ORPHA:90363 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Prolonged prothrombin time, Extramedullary hematopoiesis |
ORPHA:79303 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Joint hypermobility, Decreased circulating IgA level, Decreased ... |
OMIM:617062 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Genu valgum, Delayed ossification of carpal bones, Laryngotracheomalacia, Decreased c... |
OMIM:271510 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Eczema, Aggressive behavior, Hair-pulling, Recurrent pneumonia, Po... |
OMIM:620330 |
Cushing Disease |
|
Decreased eosinophil count, Leukocytosis, Lymphopenia |
ORPHA:96253 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation |
ORPHA:66628 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Uveitis |
OMIM:193235 |
Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hemolytic anemia, Splenomegaly, Keratoconjunctivitis, Scleri... |
ORPHA:95159 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation |
ORPHA:179494 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Arboleda-Tham Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Abnormal repetitive manneri... |
OMIM:616268 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin, Spasticity, Ab... |
OMIM:301040 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Acne, Anorexia, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosi... |
ORPHA:99889 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Incoordination, Abnormal repetitive mannerisms, Gait ataxia |
OMIM:610954 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Joint stiffness, Flexion contracture, Increased circulating IgM level, Conjunctivitis, Bone marro... |
ORPHA:505248 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Arthritis, ... |
OMIM:186580 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Prolonged prothrombin time, Aborted su... |
OMIM:614921 |
Ogden Syndrome |
|
Torticollis, Eczema, Polycythemia, Microvesicular hepatic steatosis, Jaundice, Patent ductus arte... |
OMIM:300855 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Poor coordination, Failure to thrive, Cachexia |
OMIM:610965 |
1P36 Deletion Syndrome |
|
Hepatic steatosis, Hemiplegia/hemiparesis, Abnormality of the spleen, Patent ductus arteriosus, P... |
ORPHA:1606 |
Hereditary Orotic Aciduria |
|
Impaired T cell function |
ORPHA:30 |
Carney-Stratakis Syndrome |
|
Weight loss, Dysphagia |
ORPHA:97286 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Myocarditis, Weig... |
ORPHA:221 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Hyperactivity, Recurrent urinary tract infections, Pneumonia, I... |
ORPHA:353281 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity |
OMIM:242700 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal repetitive mannerisms |
ORPHA:261144 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Recurrent urinary tract infections, Abnormal rep... |
OMIM:615873 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Clonus, Cheilitis, Anemia, Arthritis, Self-injurious behavior, ... |
ORPHA:534 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Unsteady gait, Poor gross motor coo... |
OMIM:614756 |
Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Unilateral vocal cord paralysis, Recurrent infections, Attention deficit hyperactivi... |
OMIM:301030 |
Kinsship Syndrome |
|
Spastic tetraparesis, Myoclonus, Bruxism, Failure to thrive, Abnormal repetitive mannerisms |
OMIM:619297 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenomegaly, Weight loss,... |
OMIM:219800 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Patent ductus art... |
ORPHA:84 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Prolonged prothrombin time |
ORPHA:88618 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Abnormal repetitive mannerisms, Obesity, Difficulty walking, Recurrent infections |
OMIM:618653 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Speech apraxia, Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Dysphagia, Truncal ataxia, Abno... |
OMIM:617330 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Weight loss, Aspiration pneumonia, Dysphagia, Failure to thrive |
ORPHA:2020 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Weight loss, Dysphagia, Polydipsia, Pancreatitis |
ORPHA:143 |
Congenital Analbuminemia |
|
Increased circulating antibody level |
ORPHA:86816 |
Scleromyxedema |
|
Paraproteinemia |
ORPHA:167635 |
Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Granu... |
ORPHA:93126 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Renal Nutcracker Syndrome |
|
Anemia, Weight loss |
ORPHA:71273 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Prolonged prothrombin time |
OMIM:617049 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hepatosplenomegaly, Decreased circulating antibod... |
ORPHA:247598 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Craniosynostosis, Decreased circulating total IgM, Decreased circulating IgG level, Delayed crani... |
OMIM:620005 |
Dubowitz Syndrome |
|
Decreased circulating IgG level, Eczema, Otitis media, Decreased circulating IgA level |
OMIM:223370 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Failure t... |
OMIM:619512 |
Isolated Biliary Atresia |
|
Pruritus, Splenomegaly, Prolonged prothrombin time |
ORPHA:30391 |
Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu... |
OMIM:618131 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99104 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Splenomegaly, Melena, Prolonged prothrombin time, Hypertrophic cardi... |
OMIM:276700 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Progressive flexion contractures, Rheumatoid arthritis |
ORPHA:98808 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Dysphagia, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:319182 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Increased circulating antibody level, Osteolysis, Increased susce... |
ORPHA:77261 |
Cysticercosis |
|
Iridocyclitis, Stiff neck, Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
Localized Scleroderma |
|
Fasciitis, Uveitis, Arthritis, Esophagitis, Hashimoto thyroiditis |
ORPHA:90289 |
Schwartz-Jampel Syndrome |
|
Cachexia, Blepharospasm, Hypertonia, Gait disturbance, Attention deficit hyperactivity disorder, ... |
ORPHA:800 |
Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
Leprosy |
|
Abnormality of the spleen, Uveitis, Abnormality of the liver, Steppage gait, Iritis |
ORPHA:548 |
Abetalipoproteinemia |
|
Abnormal bleeding, Reticulocytosis, Acanthocytosis, Congestive heart failure, Prolonged prothromb... |
ORPHA:14 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Hypertonia |
ORPHA:1578 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Trichinellosis |
|
Skin rash, Increased circulating IgE level, Conjunctivitis |
ORPHA:863 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Prolonged prothrombin time |
OMIM:618329 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections, Pneumonia |
ORPHA:99103 |
Zollinger-Ellison Syndrome |
|
Extrahepatic cholestasis, Jaundice, Esophagitis, Weight loss |
ORPHA:913 |
Oculodentodigital Dysplasia |
|
Ataxia, Paraparesis, Uveitis, Tetraparesis, Spasticity |
OMIM:164200 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Periodic hypokalemic paresis, Weight loss |
ORPHA:91347 |
Juvenile Polyposis Of Infancy |
|
Anemia, Refractory anemia, Patent ductus arteriosus, Cachexia |
ORPHA:79076 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Hyperactivity, Recurrent urinary tract infections, Pneumonia, I... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Hyperactivity, Recurrent urinary tract infections, Pneumonia, I... |
ORPHA:353277 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion |
ORPHA:567983 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Bronchiectasis, Weight loss |
ORPHA:60025 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Hashimoto thyroiditis, Cachexia |
ORPHA:109 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Anorexia, Insulinoma, Thymoma, Weight loss, Lethargy |
ORPHA:652 |
Stickler Syndrome |
|
Recurrent respiratory infections, Cachexia, Hemiplegia/hemiparesis, Osteoarthritis, Uveitis, Chro... |
ORPHA:828 |
Trisomy 18 |
|
Hypertonia, Cachexia |
ORPHA:3380 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Small for gestational age, Poor coordination, Spastic diplegia, Abnormal repetitiv... |
OMIM:309590 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Tremor, Patent ductus arteriosus, Self-injurious behavior, Truncal obesity, Failure to thrive, Ab... |
OMIM:612474 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Anorexia |
ORPHA:1969 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Decreased body weight, Ataxia, Periventricular heterotopia, Asplenia, Inability... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Failure to thrive, Periventricular heterotopia, Asplenia, Inability to walk, Dy... |
ORPHA:261537 |
Amoebic Keratitis |
|
Scleritis, Anterior uveitis |
ORPHA:67043 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Small for gestational age, Biliary tract abnormality, Failure to thrive, Abnorm... |
OMIM:194190 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms, Exocrine pancreatic insufficiency |
ORPHA:508498 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Loss of ambulation, Patent ductus arteriosus, Unsteady gait, Abnormal repetitive mannerisms |
OMIM:616682 |
Proteus Syndrome |
|
Thymus hyperplasia, Cachexia, Neoplasm of the thymus, Splenomegaly, Recurrent infections, Gray ma... |
ORPHA:744 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Splenomegaly, Prolonged prothrombin time, Corneal neovascularization |
ORPHA:404454 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Norrie Disease |
|
Clonus, Cachexia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder, ... |
ORPHA:649 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Failure to thrive, Periventricular heterotopia, Asplenia, Inability to walk, Pa... |
ORPHA:261552 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Vertebral fusion, Increased circulating IgE level, Camptodactyly of f... |
ORPHA:373 |
Hallermann-Streiff Syndrome |
|
Abdominal situs inversus, Uveitis |
ORPHA:2108 |
Marfan Syndrome |
|
Cachexia, Arthralgia/arthritis, Slender build, Attention deficit hyperactivity disorder |
ORPHA:558 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Prolonged prothrombin time |
OMIM:311250 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Osteoarthritis, Shuffling gait, Weight loss |
ORPHA:740 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Hyperextensible hand joints, Secretory IgA deficiency, Metopic synosto... |
ORPHA:500150 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Splenomegaly, Anemia, Prolonged prothrombin time, Bleeding with minor or no tr... |
OMIM:619525 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function |
ORPHA:567 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Hypertonia, Abnormal repetitive mannerisms, Spastic tetraparesis |
OMIM:301044 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Patent ductus arteriosus, Attention deficit hyperactivity disorder,... |
OMIM:619522 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Acne, Weight loss |
ORPHA:90794 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Coffin-Siris Syndrome 12 |
|
Elevated hepatic transaminase, Failure to thrive, Abnormal repetitive mannerisms |
OMIM:619325 |
Primrose Syndrome |
|
Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Truncal obesity, Tics, Attent... |
OMIM:259050 |
Goodpasture Syndrome |
|
Glomerulonephritis, Anemia, Weight loss |
OMIM:233450 |
Retinoblastoma |
|
Leukemia, Uveitis |
ORPHA:790 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Uveitis |
OMIM:221900 |
Digeorge Syndrome |
|
Impaired T cell function |
OMIM:188400 |
Pmm2-Cdg |
|
Pericarditis, Angina pectoris, Intracranial hemorrhage, Impaired neutrophil chemotaxis, Hypertrop... |
ORPHA:79318 |