Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Recurrent pne... |
ORPHA:277 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Failu... |
OMIM:300400 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulatin... |
ORPHA:397596 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Increased circulating IgE le... |
OMIM:617241 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Immunodeficiency 32B |
|
Pneumonia, Failure to thrive, Cerebral calcification, Impaired oxidative burst, Abnormal circulat... |
OMIM:226990 |
Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... |
OMIM:312863 |
Immunodeficiency 102 |
|
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut... |
OMIM:301082 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Isolated Agammaglobulinemia |
|
Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Otitis media, Skin rash, Abnormalit... |
ORPHA:229717 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide... |
ORPHA:70593 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:613502 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Cerebellar atrophy, Intrauterine growth retardation, Cerebral calcification, H... |
ORPHA:89844 |
Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616911 |
X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Hepatitis, Conjunctivitis, Failure to thrive, Osteomyelitis, Skin rash, Abno... |
ORPHA:47 |
Immunodeficiency 53 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Recurrent o... |
OMIM:617585 |
Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... |
OMIM:617514 |
Felty Syndrome |
|
Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S... |
ORPHA:47612 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th... |
OMIM:102700 |
Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Recurrent upper respiratory tract infections, Decreased lymphocyte proliferation in re... |
OMIM:613179 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Hydrocephalus, Thrombocytopenia, Agenesis of corpus callosum |
OMIM:166990 |
Pontocerebellar Hypoplasia, Type 15 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Thrombocytopenia, Anemia, Part... |
OMIM:619302 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... |
OMIM:619313 |
Mantle Cell Lymphoma |
|
Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Acute ... |
ORPHA:572 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Weight loss, L... |
ORPHA:100024 |
Caspase 8 Deficiency |
|
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Decreased C... |
OMIM:607271 |
Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Thromb... |
OMIM:619301 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... |
OMIM:613953 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... |
OMIM:300853 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ... |
OMIM:607594 |
Omenn Syndrome |
|
Pneumonia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly,... |
OMIM:603554 |
Ataxia-Telangiectasia |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ... |
OMIM:208900 |
Immunodeficiency 9 |
|
Decreased circulating IgG level, Failure to thrive, Lymphopenia, Recurrent aphthous stomatitis, D... |
OMIM:612782 |
Immunodeficiency 27A |
|
Pneumonia, Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Incre... |
OMIM:209950 |
Myeloperoxidase Deficiency |
|
Diminished neutrophil myeloperoxidase activity |
OMIM:254600 |
Reticular Dysgenesis |
|
Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Skin rash, Weight loss, Anemia, ... |
ORPHA:33355 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Lymphopenia, Splenomegaly, Skin rash, Increased circulating antibody level, My... |
OMIM:617591 |
Aicardi-Goutieres Syndrome 4 |
|
Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Hepatosplenomegaly, Pancytopenia, Intraut... |
OMIM:610333 |
Immunodeficiency 42 |
|
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... |
OMIM:616622 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Cyclic Neutropenia |
|
Recurrent tonsillitis, Periodontitis, Pharyngitis, Cervical lymphadenopathy, Lymphopenia, Cyclic ... |
ORPHA:2686 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... |
OMIM:619824 |
Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell co... |
OMIM:269840 |
Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... |
ORPHA:443811 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Autosomal Agammaglobulinemia |
|
Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Agammaglobulinemia, Sinus... |
ORPHA:33110 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
Chudley-Mccullough Syndrome |
|
Ventriculomegaly, Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Dyspla... |
OMIM:604213 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Fail... |
ORPHA:83471 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level,... |
OMIM:242860 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis |
ORPHA:1074 |
Mirage Syndrome |
|
Aspiration pneumonia, Lymphopenia, Leukopenia, Decreased testicular size, Intrauterine growth ret... |
OMIM:617053 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... |
OMIM:240500 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac... |
OMIM:602450 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... |
ORPHA:331235 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Good Syndrome |
|
Thymoma, Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level, Abnormal leukocy... |
ORPHA:169105 |
Congenital Toxoplasmosis |
|
Ventriculomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Cerebral calcifi... |
ORPHA:858 |
Leishmaniasis |
|
Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant... |
ORPHA:507 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutro... |
OMIM:613501 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, Failure to thrive, Recurrent... |
OMIM:615617 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response |
OMIM:617028 |
Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... |
OMIM:613493 |
Congenital Laryngomalacia |
|
Non-midline cleft of the upper lip, Cleft palate |
ORPHA:2373 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T ly... |
OMIM:619164 |
Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG |
OMIM:613495 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Immunodeficiency 18 |
|
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Decreased c... |
OMIM:618459 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... |
OMIM:242700 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Intrauterine growth retardation, Psoriasiform dermatitis, Interface hepatitis, Autoi... |
OMIM:243150 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Decreased circulating antibody level, Microcephaly, Thrombocytopenia, B lymphocytope... |
ORPHA:169079 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay |
ORPHA:79238 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Hypoplasia of the pons, Failure to thrive, Dysplastic corpus callosum, Microc... |
OMIM:618276 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... |
OMIM:619281 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... |
OMIM:613494 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... |
ORPHA:98813 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Decreased response to growth hormone ... |
OMIM:307200 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans... |
OMIM:619707 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hydrocephalus, Short stature, Asplenia, Hypoplastic spleen |
OMIM:602361 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce... |
OMIM:308240 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... |
OMIM:618204 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammagl... |
OMIM:601457 |
Pierre Robin Syndrome And Oligodactyly |
|
Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Paro... |
ORPHA:51636 |
Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... |
OMIM:601859 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Cholestasis, Pancytopenia, Hypoplasia of the corpus callosum... |
OMIM:614576 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Failure to thrive, Lymphopenia, Hepatosplenomegaly,... |
OMIM:612541 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... |
ORPHA:86841 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Cerebral atrophy, Splenomegaly, Hydrocephalus, Hepatomegaly, Vacuolated lympho... |
OMIM:269920 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Cerebral cortical atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy, Hydrocephalus, A... |
ORPHA:2703 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... |
OMIM:618986 |
Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... |
OMIM:245480 |
Fusariosis |
|
Pneumonia, Keratitis, Granuloma, Brain abscess, Fasciitis, Abnormality of the spleen, Lymphopenia... |
ORPHA:228119 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Growth delay, Lymp... |
OMIM:616005 |
Ciliary Dyskinesia, Primary, 53 |
|
Cerebellar vermis hypoplasia, Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Dilated... |
OMIM:620642 |
Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Encephalocele, Lymphadenopathy,... |
ORPHA:381 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... |
OMIM:615285 |
Pfapa Syndrome |
|
Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Recurrent pharyng... |
ORPHA:42642 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... |
OMIM:150550 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni... |
OMIM:603909 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... |
OMIM:613500 |
Shwachman-Diamond Syndrome |
|
Carious teeth, Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Ac... |
ORPHA:811 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Abnormal B cell morphology, Recurrent otitis media, Intrauterine growth retardation, Cryptorchidi... |
OMIM:616910 |
Cleft Palate-Lateral Synechia Syndrome |
|
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia |
ORPHA:2016 |
Aspergillosis |
|
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep... |
ORPHA:1163 |
Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiectasia, Postnatal gr... |
OMIM:620632 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent pneumonia, Polysplenia, Otitis media, Chronic sinusitis, Bronchiectasis |
OMIM:613807 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Intrauterine growth retardation, Cryptorchidism, Dysplastic corpus callosum, Anemia, Small for ge... |
OMIM:620135 |
Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Lig4 Syndrome |
|
Failure to thrive, Pancytopenia, Psoriasiform dermatitis, Type II diabetes mellitus, Cryptorchidi... |
OMIM:606593 |
Chronic Granulomatous Disease |
|
Eczematoid dermatitis, Splenomegaly, Otitis media, Inflammatory abnormality of the eye, Sinusitis... |
ORPHA:379 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... |
OMIM:617780 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, ... |
OMIM:308230 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen... |
OMIM:618982 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Neutro... |
OMIM:618048 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Decreased circulating IgG level, Type I diabetes mellitus, Hemophago... |
OMIM:301078 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal... |
ORPHA:500166 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... |
ORPHA:3226 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Neuroendocrine neoplasm, Neoplasm of the larynx, Chronic noninfectious... |
ORPHA:100083 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Splenomegaly, Skin rash, Weight loss, Lymphadenopathy, Ataxia, Hepat... |
ORPHA:391 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia, Short stature |
ORPHA:3204 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Retrognathia, Failure to thrive, Increased CSF lactate, Micrognathia, Anisocytosis, Dysplastic co... |
OMIM:604273 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis, Arthritis |
ORPHA:139436 |
Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
Mucopolysaccharidosis Type 6 |
|
Recurrent upper respiratory tract infections, Failure to thrive, Splenomegaly, Disproportionate s... |
ORPHA:583 |
Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... |
OMIM:620449 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Pappenheimer bodies, Positive Romberg sign, Cryptorchidism, Weight loss, Po... |
OMIM:301310 |
Immunodeficiency 20 |
|
Reduced natural killer cell count, Recurrent otitis media, Recurrent viral upper respiratory trac... |
OMIM:615707 |
Hemidystonia-Hemiatrophy Syndrome |
|
Abnormal periventricular white matter morphology, Rhizomelic leg shortening, Abnormal paranasal s... |
ORPHA:306741 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Communicating hydrocephalus, Chronic sinusitis, Chronic rhinitis, Absent frontal sinus... |
OMIM:244400 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... |
OMIM:618969 |
Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... |
ORPHA:2552 |
Neonatal Lupus Erythematosus |
|
Aplastic anemia, Basal ganglia calcification, Pancytopenia, Abnormality of the liver, Malar rash,... |
ORPHA:398124 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Thick corpus callosum, Megalencephaly |
OMIM:615938 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Hydrocephalus, Ataxia, Corti... |
OMIM:618709 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve... |
OMIM:614470 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif... |
OMIM:618108 |
Follicular Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden... |
ORPHA:545 |
Pearson Syndrome |
|
Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Neutropenia, Ataxia, Hypoparathyro... |
ORPHA:699 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... |
ORPHA:906 |
Leukodystrophy, Hypomyelinating, 24 |
|
Severe short stature, Ventriculomegaly, Cerebral atrophy, Microcephaly, Hypothyroidism, B lymphoc... |
OMIM:619851 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Igg4-Related Pachymeningitis |
|
Nephritis, Increased CSF protein concentration, Lymphadenitis, Somatic sensory dysfunction, Parot... |
ORPHA:449427 |
Primary Ciliary Dyskinesia |
|
Ventriculomegaly, Polysplenia, Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Hydro... |
ORPHA:244 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... |
OMIM:620317 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hypoplasia of the corpus callosum, Hydrocep... |
OMIM:615937 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa... |
OMIM:606367 |
Van Der Woude Syndrome 1 |
|
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate |
OMIM:119300 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, ... |
ORPHA:54251 |
Riddle Syndrome |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... |
ORPHA:420741 |
Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... |
OMIM:608184 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... |
OMIM:600802 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Syndromic Diarrhea |
|
Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liver, Intrauterine g... |
ORPHA:84064 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegal... |
ORPHA:77297 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Ataxia, Cerebral atrophy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic micr... |
OMIM:616084 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Septic arthritis, Failure to thrive, Secondary microcephaly, Osteomyelitis, Dysplastic corpus cal... |
OMIM:619423 |
Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Recurrent otitis media, Malar prominence, Intrauterine growth retardation, M... |
OMIM:251260 |
Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Absent neutrophil specific granul... |
OMIM:617475 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Retrogn... |
OMIM:614069 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Epididy... |
ORPHA:183675 |
Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Hepatitis, Pharyngitis, Leukocytosis, Splenomegaly, Skin rash, Inter... |
ORPHA:829 |
Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hypertension... |
ORPHA:824 |
Chronic Beryllium Disease |
|
Pharyngitis, Lymphocytic interstitial pneumonia, Weight loss, Abnormal proportion of CD4-positive... |
ORPHA:133 |
Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... |
OMIM:615518 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo... |
ORPHA:35078 |
Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Increased red blood cell count, Ataxia, Abnormal medulla oblongata morphology, Granulo... |
ORPHA:68 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent upper respiratory tract infections, Decreased lymphocyte proliferation in response to m... |
ORPHA:169154 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia |
ORPHA:69077 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus, Microcephaly, Micrognathia, Aplasia/Hypoplasia of the maxilla |
ORPHA:40366 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy, Ataxia |
ORPHA:599373 |
Allergic Bronchopulmonary Aspergillosis |
|
Cerebral cortical atrophy, Abnormal eosinophil morphology, Weight loss, Bronchiectasis |
ORPHA:1164 |
Wilson Disease |
|
Hepatitis, Failure to thrive, Acute hepatitis, Hepatic steatosis, Splenomegaly, Increased body we... |
ORPHA:905 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Intrauterine growth retardation, Micrognathia, Cryptorchidism, Hypoplasia of t... |
OMIM:214110 |
Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Hepatitis, Pharyngitis, Fasciitis, Osteomyelitis, Skin rash, Abscess, Infectious encep... |
ORPHA:36234 |
Mucopolysaccharidosis Type 1 |
|
Paresthesia, Splenomegaly, Abnormality of the tonsils, Hydrocephalus, Sinusitis, Short stature, C... |
ORPHA:579 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop... |
OMIM:618394 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hydrocephalus, Hepatomegaly, Pericarditis |
ORPHA:163596 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, D... |
ORPHA:90362 |
Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L... |
ORPHA:514 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus, Megalencephaly |
OMIM:155350 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Decreased circula... |
OMIM:301081 |
Heme Oxygenase 1 Deficiency |
|
Nephritis, Growth delay, Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopa... |
OMIM:614034 |
Glutamate Formiminotransferase Deficiency |
|
Growth delay, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
Atypical Teratoid Rhabdoid Tumor |
|
Cerebral calcification, Hydrocephalus, Ataxia |
ORPHA:99966 |
Wolman Disease |
|
Adrenal calcification, Adrenal insufficiency, Splenomegaly, Anemia, Cachexia, Hepatomegaly, Bone-... |
ORPHA:75233 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplen... |
OMIM:259710 |
Methylcobalamin Deficiency Type Cble |
|
Ventriculomegaly, Increased mean corpuscular volume, Failure to thrive, Postnatal growth retardat... |
ORPHA:2169 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Cerebellar vermis hypoplasia, Abnormal natural killer cell morphology, Intrauterine growth retard... |
OMIM:615966 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... |
ORPHA:231154 |
B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Splenomegaly, Cerebellar hypoplasia, Hypothyroidism, Hydroc... |
ORPHA:79332 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop... |
ORPHA:217390 |
Holoprosencephaly 11 |
|
Microcephaly, Holoprosencephaly, Polysplenia, Agenesis of corpus callosum |
OMIM:614226 |
Immunodeficiency 31C |
|
Growth delay, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Decreased lymphocyte prol... |
OMIM:614162 |
Immunodeficiency 92 |
|
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... |
OMIM:619652 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Cerebellar hypoplasia, Micrognathia, Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Developmental And Epileptic Encephalopathy 36 |
|
Microretrognathia, Cerebral atrophy, Microcephaly, Hydrocephalus, Hepatomegaly |
OMIM:300884 |
Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613162 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
Weiss-Kruszka Syndrome |
|
Dysplastic corpus callosum, Cryptorchidism, Decreased response to growth hormone stimulation test |
ORPHA:502430 |
Juvenile Huntington Disease |
|
Ventriculomegaly, Neuronal loss in basal ganglia, Cerebellar atrophy, Cerebellar vermis atrophy, ... |
ORPHA:248111 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Skin rash, Generalized lymphadenopathy, Weig... |
ORPHA:33276 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... |
OMIM:619705 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Fasciitis, Paresthesia, Myositis, Eosinophilia, Weight loss, Arth... |
ORPHA:3165 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Chronic sinusitis, Chronic otitis media, Polysplenia |
OMIM:619608 |
Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Abnormal corpus striatum morphology, Chorea, Caudate atrophy, Weight l... |
ORPHA:98934 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Testicular neopla... |
ORPHA:83469 |
Pineocytoma |
|
Increased CSF protein concentration, Hydrocephalus, Episodic ataxia |
ORPHA:251912 |
Myopathy With Extrapyramidal Signs |
|
Increased CSF protein concentration, Cerebellar dysplasia, Chorea, Leukocytosis, Splenomegaly, Hy... |
OMIM:615673 |
Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
Pelger-Huet Anomaly |
|
Giant platelets, Eczematoid dermatitis, Failure to thrive, Recurrent otitis media, Hyposegmentati... |
OMIM:169400 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Leukoencephalopathy, Increased CSF protein concentration, Paresthesia, Hypogonadotropic hypogonad... |
ORPHA:298 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Cavum septum pellucidum, Leukemia, Megalencephaly |
OMIM:602501 |
Nasu-Hakola Disease |
|
Cerebral cortical atrophy, Ventriculomegaly, Acute leukemia, Chorea, Cerebral calcification, Hydr... |
ORPHA:2770 |
Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Hepatic cysts, Spl... |
ORPHA:400 |
Granulomatosis With Polyangiitis |
|
Keratitis, Subglottic stenosis, Episcleritis, Weight loss, Granulomatosis, Sinusitis, Conjunctivi... |
OMIM:608710 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Adrenocorticotropin deficient ... |
ORPHA:293978 |
Albers-Schönberg Osteopetrosis |
|
Carious teeth, Mandibular osteomyelitis, Osteomyelitis, Abnormal leukocyte morphology, Hydrocepha... |
ORPHA:53 |
Refractory Celiac Disease |
|
Normocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, Abnormal spleen physi... |
ORPHA:398063 |
Multiple Sulfatase Deficiency |
|
Increased CSF protein concentration, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Abno... |
OMIM:272200 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... |
ORPHA:276 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Skin rash, Increased inflammatory response, Myositis, Eosinophilia, Myocarditis, Weight loss, Art... |
ORPHA:183 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Lissencephaly, Ventriculomegaly, Hypoplasia of the pons, Type II lissencephaly, Cerebellar dyspla... |
OMIM:613153 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227990 |
Agammaglobulinemia, X-Linked |
|
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ... |
OMIM:300755 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Ventriculomegaly, Hepatitis, Eczematoid dermatitis, Failure to thrive, ... |
OMIM:304790 |
Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... |
ORPHA:35858 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Temporomandibular joint ankylosis, Micrognathia, Weight loss, Abnormal epig... |
ORPHA:141152 |
Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Cerebellar vermis hypoplasia, Ventriculomegaly, Cholestasis, Obesity, Splenomeg... |
OMIM:615630 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Recurrent pneumonia, Lateral ventricle dilatation, Decreased cir... |
OMIM:612301 |
Masa Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Short stature |
OMIM:303350 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... |
OMIM:614172 |
Lissencephaly Due To Tuba1A Mutation |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Microretrognathia, Dysgenesis of the basal gangli... |
ORPHA:171680 |
Wiskott-Aldrich Syndrome 2 |
|
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... |
OMIM:614493 |
Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal mesentery morphology, In... |
ORPHA:449395 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt... |
OMIM:616576 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip |
OMIM:137215 |
Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Failure to thrive, Osteomyelitis, Pancytopenia, Splenomegaly, Anemia, Hydrocephalu... |
OMIM:259700 |
Autoimmune Polyendocrinopathy Type 3 |
|
Rheumatoid arthritis, Autoimmune hypoparathyroidism, Iridocyclitis, Tubulointerstitial nephritis,... |
ORPHA:227982 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
Fanconi Anemia, Complementation Group R |
|
Bone marrow hypocellularity, Chiari type I malformation, Microcephaly, Hydrocephalus, Anemia, Gro... |
OMIM:617244 |
Acute Promyelocytic Leukemia |
|
Leukopenia, Pancytopenia, Leukocytosis, Weight loss, Lymphadenopathy, Neutropenia, Thrombocytopen... |
ORPHA:520 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Weight loss, Hemophagocytosis |
ORPHA:86884 |
Icf Syndrome |
|
Lymphopenia, Micrognathia, Communicating hydrocephalus, Anemia, Abnormality of neutrophils, Decre... |
ORPHA:2268 |
Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Impaired pain sensation, Abnormal cerebellum morphology, Hydrocepha... |
ORPHA:1532 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Abnormal paranasal sinus morphology, Lymphopenia, Intestinal lymphangiectasia |
OMIM:207731 |
Barth Syndrome |
|
Abnormality of neutrophils |
ORPHA:111 |
Hypoglossia With Situs Inversus |
|
Asplenia, Micrognathia, Polysplenia |
OMIM:612776 |
Krabbe Disease |
|
Increased CSF protein concentration, Failure to thrive, Diffuse cerebral atrophy, Hydrocephalus, ... |
OMIM:245200 |
Chediak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abn... |
OMIM:214500 |
Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... |
ORPHA:1304 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Recurrent otitis media, Asplenia |
OMIM:618948 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Failure to thrive, Rectal abscess, Panhypogammaglobulinemia, Recurrent otiti... |
OMIM:601495 |
Alexander Disease Type I |
|
Cerebellar atrophy, Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Cachexia, Abno... |
ORPHA:363717 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, ... |
OMIM:615482 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Multilobulated spleen, Intrauterine growth retardation, Micrognathia, Crypt... |
OMIM:601186 |
Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip |
OMIM:600251 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... |
OMIM:616100 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Ecz... |
OMIM:243700 |
Focal Facial Dermal Dysplasia Type Iv |
|
Microcephaly, Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag... |
OMIM:220200 |
Whipple Disease |
|
Uveitis, Splenomegaly, Infectious encephalitis, Myositis, Myocarditis, Anemia, Cachexia, Hypothyr... |
ORPHA:3452 |
Fragile X Syndrome |
|
Cerebral cortical atrophy, Otitis media, Sinusitis, Macroorchidism, Mandibular prognathia, Chroni... |
ORPHA:908 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... |
OMIM:619374 |
Alveolar Echinococcosis |
|
Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic... |
ORPHA:284 |
Joubert Syndrome 21 |
|
Occipital encephalocele, Splenomegaly, Chronic sinusitis, Encephalocele, Hypoplasia of the corpus... |
OMIM:615636 |
Hydrocephalus, Congenital, 1 |
|
Ventriculomegaly, Hydrocephalus |
OMIM:236600 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
Van Der Woude Syndrome 2 |
|
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate |
OMIM:606713 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Laryngomalacia |
ORPHA:93941 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
Aicardi-Goutieres Syndrome 7 |
|
Basal ganglia calcification, Pancytopenia, Hepatic steatosis, Chilblains, Increased circulating a... |
OMIM:615846 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Jaundice, Failure to thrive |
OMIM:129850 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Weight loss |
ORPHA:2902 |
Pneumocystosis |
|
Interstitial pneumonitis, Increased circulating antibody level, Weight loss, Acute infectious pne... |
ORPHA:723 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... |
OMIM:241600 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Failure to thrive, Agammaglobulinemia, Seborrheic dermatitis, Absent circu... |
OMIM:619693 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Bifid uvula, Ankyloglossia, Cleft palate |
OMIM:303400 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L... |
ORPHA:139402 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... |
OMIM:618282 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Reduced cerebral white matter volume, Pachygyria, Secondary microcephaly, Hypoplasia of the corpu... |
OMIM:618174 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Increased circulating IgE level, Abnormality of the sphenoid sinus, Increased circulat... |
ORPHA:449563 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Ventriculomegaly, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Increased CSF lactate,... |
OMIM:616034 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Intrauterine growth retardation, Dysmetria, Hypersegmentation of neutrophil nu... |
OMIM:615578 |
Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid g... |
ORPHA:99867 |
Anencephaly 2 |
|
Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate, Anencephaly |
OMIM:619452 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Type I diabetes mellitus, Abnormal dental enamel morphology, Intrauter... |
ORPHA:1133 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Celiac Disease, Susceptibility To, 1 |
|
Ataxia, Type I diabetes mellitus, Eczematoid dermatitis, Failure to thrive, Postnatal growth reta... |
OMIM:212750 |
Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... |
OMIM:612444 |
Zygomycosis |
|
Nephritis, Brain abscess, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Sinusitis, Peri... |
ORPHA:73263 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... |
ORPHA:37042 |
Aicardi-Goutieres Syndrome 9 |
|
Acute pancreatitis, Hepatic fibrosis, Failure to thrive, Lateral ventricle dilatation, Cerebral a... |
OMIM:619487 |
Desmosterolosis |
|
Severe short stature, Ventriculomegaly, Abnormal cortical gyration, Retrognathia, Failure to thri... |
ORPHA:35107 |
Digeorge Syndrome |
|
Recurrent otitis media, Micrognathia, Hepatic steatosis, Ovarian cyst, Cholelithiasis, Parathyroi... |
OMIM:188400 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Microretrognathia, Secondary microcephaly, Obesity, Intrauterine gr... |
OMIM:619737 |
Poems Syndrome |
|
Hyperesthesia, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Paresth... |
ORPHA:2905 |
Osteopetrosis, Autosomal Recessive 5 |
|
Diffuse white matter abnormalities, Ventriculomegaly, Growth delay, Extramedullary hematopoiesis,... |
OMIM:259720 |
Immunodeficiency 17 |
|
Abnormal B cell morphology, Eczematoid dermatitis, Failure to thrive, Decreased proportion of CD8... |
OMIM:615607 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus, Cryptorchidism, Failure to thrive |
ORPHA:250994 |
Q Fever |
|
Pneumonia, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Abnormality of the liver, Cho... |
ORPHA:781 |
Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Minimal change glomerulonephritis, Growth delay, Abnormal proportion... |
ORPHA:1830 |
Pontocerebellar Hypoplasia Type 2 |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal cortical gyration, Hypoplasia of the cor... |
ORPHA:2524 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
22Q11.2 Deletion Syndrome |
|
Carious teeth, Micrognathia, Cryptorchidism, Hypoparathyroidism, Chronic otitis media, Cholelithi... |
ORPHA:567 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Absence of lymph node germinal center, Chronic mucocutane... |
ORPHA:79124 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... |
ORPHA:199306 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Atopic dermatitis, Leukocytosis, Eosinophilia, Weight loss, Anemia |
ORPHA:2070 |
Mhc Class Ii Deficiency 1 |
|
Cutaneous anergy, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis... |
OMIM:209920 |
Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ... |
OMIM:612260 |
Yellow Nail Syndrome |
|
Biliary tract neoplasm, Hypoplasia of lymphatic vessels, Sinusitis, Rhinitis, Bronchiectasis |
ORPHA:662 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Cerebral hypoplasia, E... |
ORPHA:508542 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Cerebellar atrophy, Periventricular leukomalacia, Microcephaly, Hydroc... |
OMIM:618302 |
Cinca Syndrome |
|
Leukocytosis, Splenomegaly, Inflammatory abnormality of the eye, Anemia, Lymphadenopathy, Hepatom... |
ORPHA:1451 |
Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis |
ORPHA:163703 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Decreased circulating IgG level, Ex... |
OMIM:620005 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Intrauterine growth retardation, Micrognathia |
OMIM:617022 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, W... |
OMIM:619381 |
Immunodeficiency 108 With Autoinflammation |
|
Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei |
OMIM:260570 |
Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Reduced cerebral white matter volume, Natal... |
OMIM:617237 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... |
OMIM:614868 |
Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Chiari malformation, Decreased response to growth hormone stimulatio... |
OMIM:609053 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis |
OMIM:615294 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Microcephaly, Skin rash, Failure to thrive |
ORPHA:26 |
Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Eczematoid dermatitis, Keratoconjunctivitis, Weight loss, Thrombocytopenia, Atax... |
ORPHA:79242 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Stomatocytosis, Hypoglycorrhachia, Intracerebral periventricular ca... |
ORPHA:168577 |
Congenital Syphilis |
|
Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepatosplenomegaly, Synovitis, Lymphade... |
ORPHA:499009 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:50251 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Ventriculomegaly, Inferior cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Cereb... |
OMIM:304100 |
Bone Dysplasia, Lethal Holmgren Type |
|
Rhizomelia, Failure to thrive, Anemia, Weight loss, Hepatomegaly, Severe short-limb dwarfism |
ORPHA:1842 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Intrauterine growth retardation, Psorias... |
ORPHA:436252 |
Lissencephaly 5 |
|
Leukoencephalopathy, Cerebellar vermis hypoplasia, Occipital encephalocele, Type II lissencephaly... |
OMIM:615191 |
Poikiloderma With Neutropenia |
|
Recurrent pneumonia, Carious teeth, Retrognathia, Recurrent otitis media, Leukopenia, Micrognathi... |
OMIM:604173 |
Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal... |
ORPHA:1528 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... |
ORPHA:66628 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Anemia, Cachexia, Splenomegaly |
ORPHA:2930 |
Idiopathic Achalasia |
|
Recurrent aspiration pneumonia, Weight loss |
ORPHA:930 |
Christianson Syndrome |
|
Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Aplasia/Hypoplasia of the corpus... |
ORPHA:85278 |
Insulin Autoimmune Syndrome |
|
Insulin-resistant diabetes mellitus, Increased circulating antibody level, Weight loss, Hyperinsu... |
ORPHA:411593 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology |
ORPHA:26790 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Recurrent pneumonia, Retrognathia, Micrognathia, Malar flattening, Hypoplasia o... |
OMIM:613177 |
Igg4-Related Aortitis |
|
Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Increased c... |
ORPHA:449400 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebellar vermis hypoplasia, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cer... |
OMIM:616900 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Cerebral hypoplasia, Postnatal growth retardation, Intrauterine growth retardat... |
OMIM:257300 |
Multiple Myeloma |
|
Paresthesia, Splenomegaly, Increased circulating IgA level, Weight loss, Lymphadenopathy, Anemia,... |
ORPHA:29073 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... |
ORPHA:179494 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Cerebellar vermis hypoplasia, Secondary microcephaly, Postnatal growth retardation, Intrauterine ... |
ORPHA:357058 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Paresthesia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thr... |
ORPHA:71493 |
Ciliary Dyskinesia, Primary, 35 |
|
Recurrent pneumonia, Bronchiectasis, Abdominal situs ambiguus, Chronic sinusitis, Chronic rhiniti... |
OMIM:617092 |
Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly, Panniculitis |
ORPHA:33577 |
Takayasu Arteritis |
|
Increased inflammatory response, Inflammatory abnormality of the eye, Weight loss, Arthritis, Anemia |
ORPHA:3287 |
Vici Syndrome |
|
Cutaneous anergy, Decreased circulating IgG level, Cerebellar vermis hypoplasia, Chronic mucocuta... |
OMIM:242840 |
Polycythemia Vera |
|
Acute leukemia, Polycythemia, Paresthesia, Leukocytosis, Portal hypertension, Splenomegaly, Porta... |
ORPHA:729 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Otitis media, Chronic sinusitis |
OMIM:300455 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Failure to thrive in infancy, Leukocytosis, Skin rash, Increased proportion of CD4-positive T cel... |
OMIM:617099 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Abnormality of the temporomandibular joint, Hepatosplenomegaly, Mild postnata... |
ORPHA:85408 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Dysplastic corpus callosum, Microcephaly, Hypergastrinemia, Cerebral dysmyeli... |
OMIM:252650 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Impaired T cell function, Hypogonadism, Decreased testicular size, Decreased s... |
OMIM:201100 |
Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Hypoplasia of the co... |
OMIM:227646 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Micrognathia, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of co... |
OMIM:618577 |
Williams-Beuren Region Duplication Syndrome |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Small for gestational age, Failure to thrive, Dec... |
OMIM:609757 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hypochromic anemia, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Ataxia, Short stature, A... |
ORPHA:2720 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventriculomegaly, Malar flattening, Cryptorchidism, Agenesis of corpus callosum, Chiari type I ma... |
OMIM:218350 |
Band Heterotopia |
|
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... |
OMIM:600348 |
Coach Syndrome 2 |
|
Hepatic fibrosis, Cerebellar vermis hypoplasia, Portal fibrosis, Congenital hepatic fibrosis, Age... |
OMIM:619111 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Ataxia, ... |
OMIM:615688 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni... |
OMIM:618699 |
Fried Syndrome |
|
Cerebral calcification, Abnormal cerebellum morphology, Hydrocephalus |
ORPHA:85335 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Periodontitis, Hydrocephalus |
ORPHA:1008 |
Treacher-Collins Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Retrognathia, Failure to thrive, Abn... |
ORPHA:861 |
Granulomatosis With Polyangiitis |
|
Abnormality of the hypothalamus-pituitary axis, Otitis media, Skin rash, Increased inflammatory r... |
ORPHA:900 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Primary... |
OMIM:269200 |
Isolated Anencephaly |
|
Intrauterine growth retardation, Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes |
ORPHA:563609 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Failure to thrive, Cerebral atrophy, Increased circulating IgE level, Leukocy... |
OMIM:618213 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Weight loss, Leukocytosis, Thrombocytopenia |
ORPHA:90060 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der... |
ORPHA:324964 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Biliary tract abnormality, Neoplasm of the liver, Cir... |
ORPHA:90003 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis, Rhinitis, Bronchiectasis |
OMIM:615504 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Reduced cerebral white matter volume, Lateral ventricle dilatation, Parietal cortical atrophy, Hy... |
OMIM:620075 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Abnormal peritoneum morphology |
ORPHA:2023 |
Cryptogenic Organizing Pneumonia |
|
Weight loss, Leukocytosis, Neutrophilia |
ORPHA:1302 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries, Hydro... |
ORPHA:2969 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
Myh9-Related Disease |
|
Nephritis, Giant platelets, Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased m... |
ORPHA:182050 |
Rheumatic Fever |
|
Hemiballismus, Chorea, Recurrent pharyngitis, Arthritis, Sinusitis, Myocarditis, Endocarditis, Pe... |
ORPHA:3099 |
Ciliary Dyskinesia, Primary, 50 |
|
Chronic sinusitis |
OMIM:620356 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... |
OMIM:620133 |
Axial Mesodermal Dysplasia Spectrum |
|
Cerebral cortical atrophy, Abnormality of the spleen, Abnormality of the liver, Micrognathia, Hyd... |
ORPHA:1834 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hepatic steatosis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cirrhosis, Hep... |
OMIM:619418 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... |
OMIM:616433 |
Stromme Syndrome |
|
Accessory spleen, Cerebellar vermis hypoplasia, Micrognathia, Agenesis of corpus callosum, Cerebe... |
OMIM:243605 |
Ciliary Dyskinesia, Primary, 12 |
|
Chronic sinusitis, Chronic rhinitis, Short stature, Chronic otitis media, Bronchiectasis |
OMIM:612650 |
Coccidioidomycosis |
|
Hypoglycorrhachia, Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Folli... |
ORPHA:228123 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cholelithiasis, Female hypogonadism, Male hypogonadism, Chronic mucocutaneous... |
OMIM:240300 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Polymicrogyria, Decreased body weight, Dysplastic corpus callosum, Agenesis o... |
OMIM:614833 |
Cardiofacioneurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Abdominal situs inversus, Micrognathia, Cryptorchidism, Microcephal... |
OMIM:619123 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Chiari malformation, Cerebral atrophy, Obesity, Micrognathia, Malar flattening, Cryptorchidism, A... |
ORPHA:171839 |
Adams-Oliver Syndrome |
|
Failure to thrive, Leukopenia, Portal hypertension, Encephalocele, Congenital hepatic fibrosis, P... |
ORPHA:974 |
Joubert Syndrome With Hepatic Defect |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Aplasia/Hypoplasia of the corpus callosum,... |
ORPHA:1454 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Microcephaly, Hydrocephalus, Periventricular white matter hyperintensities, Simplified gyral pattern |
OMIM:619470 |
H Syndrome |
|
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Psoriasiform dermatitis, Hypogo... |
ORPHA:168569 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss, Abnormal cerebral white matter morphology, Ataxia |
OMIM:613662 |
Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies |
OMIM:223350 |
Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Aplastic anemia, Hypogonadism, Intrauterine growth retardation, Hypoplasia of t... |
OMIM:300514 |
Cystic Fibrosis |
|
Recurrent pneumonia, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hep... |
OMIM:219700 |
Rat-Bite Fever |
|
Septic arthritis, Lymphadenitis, Parotitis, Pharyngitis, Morbilliform rash, Skin rash, Pustule, M... |
ORPHA:31205 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Diffuse white matter abnormalities, Ventriculomegaly, Occipital encephalocele, Hypoplasia of the ... |
ORPHA:370959 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Hydrocephalus, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Thymic Neuroendocrine Tumor |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:97289 |
Immunodeficiency 61 |
|
Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased... |
OMIM:300310 |
Budd-Chiari Syndrome |
|
Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Weight loss, Hepatomega... |
ORPHA:131 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis |
OMIM:614017 |
Castleman Disease |
|
Follicular hyperplasia, Generalized lymphadenopathy, Weight loss, Lymphadenopathy, Thrombocytopen... |
ORPHA:160 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Malar rash, Enlargement of ... |
ORPHA:50918 |
Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... |
ORPHA:2298 |
Microscopic Polyangiitis |
|
Uveitis, Paresthesia, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Panc... |
ORPHA:727 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Dilated third ventricle, Lateral ventricle dilatation, Basal gangl... |
OMIM:620371 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Cerebellar dysplasia, Hypoplasia of the c... |
OMIM:613155 |
Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Failure to thrive, Impaired T cell function, Anisocytos... |
OMIM:258900 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Failure to thrive, Dysplastic corpus callosum, Microcephaly, Mandib... |
OMIM:620001 |
Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Leuko... |
ORPHA:53035 |
Wiedemann-Rautenstrauch Syndrome |
|