Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Abnormal number of granulocyte precursors, Refractory anemia with ringed sider... |
ORPHA:75564 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Squamous cell carcinoma, Anal ... |
ORPHA:217390 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Acute Erythroid Leukemia |
|
Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia w... |
ORPHA:318 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Myelodysplasia, Anemia, Increased ... |
OMIM:619041 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu... |
OMIM:613736 |
Immunodeficiency 16 |
|
Splenomegaly, Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Verrucae, Squamous cell carcinoma |
OMIM:618267 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, B-cell lymph... |
OMIM:619924 |
Hereditary Mixed Polyposis Syndrome |
|
Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... |
ORPHA:157794 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma,... |
ORPHA:79405 |
Immunodeficiency 21 |
|
Megakaryocyte nucleus hypolobulation, Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocyt... |
OMIM:614172 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Spleno... |
OMIM:614470 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Ankle clonus, Neutropenia, Hypopla... |
OMIM:159550 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma,... |
ORPHA:79406 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae |
OMIM:614038 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... |
OMIM:175100 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma,... |
ORPHA:79411 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Radioulnar synostosis, Joint contracture of the 5th finger, Leukemia, Hypoplastic a... |
OMIM:194350 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eczema, Eosinophilic infiltration of the esophagus, Subarachnoid hemorrhage,... |
OMIM:243700 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Telangiectasia of the skin, Squamous cell carcinoma, Granul... |
ORPHA:542592 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Xeroderma Pigmentosum Variant |
|
Keratitis, Telangiectasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma |
ORPHA:90342 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ... |
ORPHA:86843 |
Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Basal cell carcinoma, Facial telangiectasia, Squamous cell carcinoma |
ORPHA:50944 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Bone Marrow Failure Syndrome 1 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Myelodysplasia |
OMIM:614675 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia |
OMIM:614743 |
Hyperkeratosis Lenticularis Perstans |
|
Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
Acquired Ichthyosis |
|
Renal insufficiency, Recurrent skin infections, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma |
ORPHA:454 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Anemia, S... |
ORPHA:296 |
Fanconi-Like Syndrome |
|
Pancytopenia, Osteomyelitis, Multiple cutaneous malignancies |
OMIM:227850 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Recurrent sinusitis, Absent circula... |
OMIM:620282 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Recurrent pneumonia, Decreased propor... |
OMIM:619824 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Rhabdoid Tumor |
|
Renal neoplasm, Thrombocytopenia, Neoplasm of the central nervous system, Hypertension, Neoplasm ... |
ORPHA:69077 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Esophageal stricture, Gastrointestinal inflammation, Squamous cell carcinoma,... |
ORPHA:79409 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Myelodysplasia, Gastroesophageal reflux, Bone marrow hypocellulari... |
OMIM:614742 |
Immunodeficiency 24 |
|
Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated i... |
OMIM:615897 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Schopf-Schulz-Passarge Syndrome |
|
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma |
OMIM:224750 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Sarcoma |
ORPHA:2762 |
Werner Syndrome |
|
Myocardial infarction, Abnormal cerebral vascular morphology, Squamous cell carcinoma, Neoplasm, ... |
ORPHA:902 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymphoma, Burkitt l... |
OMIM:308240 |
Epidermodysplasia Verruciformis |
|
Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis, Pustule, Squamous c... |
ORPHA:302 |
Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Horseshoe kidney, Squamous cell carcinoma, Pelvic kidney, Anemia |
OMIM:613951 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Elbow flexion contracture, Sterile arthrit... |
OMIM:604416 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Myelodysplasia, Aplastic anemia, Eo... |
ORPHA:486 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Sarcoma |
ORPHA:66661 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of... |
OMIM:278760 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lymphoma, Autoimm... |
OMIM:613011 |
Primary Myelofibrosis |
|
Bone marrow hypercellularity, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, He... |
ORPHA:824 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma,... |
ORPHA:79410 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Lymphoproliferative disorder, Aplastic anemia, Splenomegaly, Lymphoma, Recurrent pn... |
OMIM:615122 |
Immunodeficiency 18 |
|
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent gast... |
OMIM:615615 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hematolo... |
ORPHA:98850 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of the stomach, Gastroin... |
ORPHA:44890 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Punctate keratitis, Erythroderma, Squamous cell carcinoma |
OMIM:602540 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Carcinoma, Corneal neovascularization, Chronic rhinitis, Squamous cell carcinoma |
OMIM:615225 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Neoplasm of head and neck, Pure red cell aplasia, ... |
ORPHA:99867 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, Splenomegaly, H... |
OMIM:300635 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... |
ORPHA:2591 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Medial calcification of large arteries, Villous atrophy, F... |
ORPHA:391487 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Refractory anemia with ringed sideroblasts, Erythro... |
OMIM:133180 |
Xeroderma Pigmentosum, Variant Type |
|
Keratitis, Squamous cell carcinoma, Cutaneous telangiectasia, Basal cell carcinoma, Conjunctiviti... |
OMIM:278750 |
Transcobalamin Deficiency |
|
Pancytopenia, Megaloblastic bone marrow, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute ... |
ORPHA:859 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Myelodysplasia, Bone marrow hypocellularity, Abnormally low T cell receptor excisio... |
OMIM:619767 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Squamous cell carcinoma, Abnormal esoph... |
OMIM:226600 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ly... |
OMIM:615559 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Bone marrow hypercellularity, Macrocytic anemia, Megakaryocyte nucleus hy... |
ORPHA:86841 |
Chromosome 5Q Deletion Syndrome |
|
Megakaryocyte nucleus hypolobulation, Anemia of inadequate production, Myelodysplasia, Refractory... |
OMIM:153550 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Oropharyngeal squamous cell carcinoma, Breast carcinoma, Telangiectasia, Facial telangiectasia, A... |
OMIM:614564 |
Brucellosis |
|
Liver abscess, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis, Epididymit... |
ORPHA:1304 |
Liposarcoma |
|
Varicose veins, Sarcoma |
ORPHA:69078 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Ileus, Ovarian neoplasm, Neoplasm of the central n... |
ORPHA:83469 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... |
OMIM:614700 |
Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma, Cheilitis |
ORPHA:357154 |
Autoinflammatory-Pancytopenia Syndrome |
|
Arthropathy, Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal infl... |
OMIM:619858 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculitis-like T-cell... |
OMIM:618398 |
Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopenia... |
OMIM:619164 |
Lig4 Syndrome |
|
Pancytopenia, Hypoplasia of penis, Telangiectasia of the skin, Malabsorption, Leukocytosis, Lymph... |
ORPHA:99812 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Leukopenia, Monocyto... |
OMIM:616871 |
Neuroendocrine Neoplasm Of Appendix |
|
Functional intestinal obstruction, Tricuspid stenosis, Mechanical ileus, Midgut malrotation, Hear... |
ORPHA:100079 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia |
OMIM:614082 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
Dyskeratosis Congenita, X-Linked |
|
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Leukopenia, Conjunctivitis, Ptery... |
OMIM:305000 |
Lig4 Syndrome |
|
Pancytopenia, Psoriasiform dermatitis, Myelodysplasia, Telangiectasia, Acute lymphoblastic leukem... |
OMIM:606593 |
Recurrent Respiratory Papillomatosis |
|
Recurrent pneumonia, Dysphagia, Syncope, Squamous cell carcinoma |
ORPHA:60032 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Listeriosis |
|
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec... |
ORPHA:533 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect... |
ORPHA:678 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Oral leukoplakia, Pancytopenia, Bone marrow hypocellularity, Squamous cell carcinoma of the tongue |
OMIM:613988 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Myelodysplasia, Patellar aplasia, Genu varum, Finger symphalangism, Functional a... |
ORPHA:221008 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Myelodysplasia, Thrombocytopenia, Leukopenia, Interstitial pneumonitis, Increase... |
OMIM:127550 |
Rothmund-Thomson Syndrome Type 2 |
|
Joint dislocation, Aplastic anemia, Myelodysplasia, Lymphoma, Genu varum, Patellar aplasia, Cleft... |
ORPHA:221016 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Lymphocytoma cutis, Sterile pyuria, Tubulointerstitial nephritis, Cholecystitis, A... |
ORPHA:449395 |
Yellow Nail Syndrome |
|
Renal neoplasm, Sinusitis, Biliary tract neoplasm, Nephropathy, Bronchiectasis, Neoplasm of the l... |
ORPHA:662 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Villous atrophy, Skin rash, Diffuse alveolar hemorrhage, Thrombocytopenia, Splenome... |
OMIM:616050 |
Gaucher Disease, Type I |
|
Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertension, Mitral regu... |
OMIM:230800 |
Immunodeficiency 59 And Hypoglycemia |
|
Recurrent skin infections, Malabsorption, Herpes simplex encephalitis, Decreased proportion of cl... |
OMIM:233600 |
Refractory Anemia |
|
Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, Single lineage myelo... |
ORPHA:98826 |
Autoimmune Lymphoproliferative Syndrome |
|
Bone marrow hypercellularity, Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, Lymp... |
ORPHA:3261 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Rothmund-Thomson Syndrome |
|
Skin rash, Telangiectasia of the skin, Myelodysplasia, Aplastic anemia, Aplasia/Hypoplasia of the... |
ORPHA:2909 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Myelodysplasia, Thrombocytopenia, Squamous cell carcinoma of the skin, Lymph... |
OMIM:620365 |
8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial... |
DECIPHER:39 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Renal artery aneurysm, Portal hypertension, Raynaud phenomenon... |
OMIM:615688 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Tremor, Obesity, Limb dystonia, Hypertrophic cardiomyopathy |
OMIM:620270 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo... |
ORPHA:247798 |
Fetal Gaucher Disease |
|
Death in infancy, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage,... |
ORPHA:85212 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Leukopenia, Fat malabsorpti... |
ORPHA:811 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Monocytopenia, Pancytopenia, Impaired neutr... |
OMIM:618986 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Maculopapular exanthema, Skin rash, Aplast... |
ORPHA:398124 |
Oslam Syndrome |
|
Radioulnar synostosis, Neoplasm, Anemia, Osteosarcoma |
OMIM:165660 |
Pauci-Immune Glomerulonephritis |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Glomerulonephritis, ... |
ORPHA:93126 |
Acromesomelic Dysplasia, Grebe Type |
|
Death in infancy, Synostosis of carpal bones, Tarsal synostosis, Sarcoma |
ORPHA:2098 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Chromomycosis |
|
Keratitis, Squamous cell carcinoma, Keratoconjunctivitis sicca, Multiple cutaneous malignancies, ... |
ORPHA:182 |
Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Th... |
OMIM:243500 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Nephroblastoma, Medulloblastoma, Neuroblastoma |
OMIM:610832 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid... |
ORPHA:873 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Thrombocytopenia, Steatorrhea, Persistence ... |
OMIM:260400 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Death in childhood, Thrombocytopenia |
OMIM:610333 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Genu valgum, Rib exostoses, Scapular e... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Genu valgum, Rib exostoses, Scapular e... |
OMIM:133700 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Esophagea... |
OMIM:617341 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Anemia, Neutropenia, Leukemia,... |
OMIM:600901 |
Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Recurrent cutaneous fungal infections, Squamous cell ca... |
ORPHA:477 |
Chloramphenicol Toxicity |
|
Aplastic anemia |
OMIM:515000 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Keratitis, Elbow flexion contracture, Furrowed tongue, Squam... |
OMIM:148210 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Recurrent skin infections, Anal fissure, Esophageal stricture, Dilated cardi... |
ORPHA:89842 |
Primary Erythromelalgia |
|
Leukemia, Vasculitis |
ORPHA:90026 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu... |
ORPHA:572 |
Spondyloenchondrodysplasia |
|
Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Proteinuria, Autoim... |
ORPHA:1855 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Squamous cell carcinoma |
OMIM:618373 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Angular cheilitis, Proteinuria, Me... |
ORPHA:35858 |
Cherubism |
|
Optic neuropathy, Marcus Gunn pupil, Macular scar |
OMIM:118400 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia |
OMIM:600546 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Congenital hip dislocation, Aplastic anemia, Eczema, Thromb... |
OMIM:617052 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Thrombo... |
ORPHA:507 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Anemia, Neutropenia, Leukemia,... |
OMIM:227650 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Malabsorption, Telangiectasia, Squamous cell carcinoma,... |
OMIM:601675 |
Cowden Syndrome 1 |
|
Colonic diverticula, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, Hamart... |
OMIM:158350 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Renal insufficiency, Transient ischemic attack, Proteinuria, Thrombocytopenia, Stag... |
OMIM:242900 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Decreased basophil count... |
OMIM:618394 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Recurrent skin infections, Camptodactyly of finger, Phimosis, Esophageal stri... |
ORPHA:2908 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Myelodysplasia, Thrombocytopenia, Leukopenia, Bone marrow hypocellularity... |
OMIM:619151 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegal... |
ORPHA:79277 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Telangiectasia of the skin, Myocardial infarctio... |
ORPHA:679 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Bone Marrow Failure Syndrome 6 |
|
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... |
OMIM:618849 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Mitral regurgitation, High palate, Cu... |
OMIM:619750 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Lymphoma, Bronchiectasis, Squamous cell carcinoma, Leukemia, Malar rash,... |
OMIM:210900 |
Milroy Disease |
|
Abnormal venous morphology, Ankle swelling, Angiosarcoma, Varicose veins, Neoplasm of the skin, E... |
ORPHA:79452 |
Gardner Syndrome |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... |
ORPHA:79665 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Anemia, Bone marrow hypocellul... |
OMIM:227645 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Thrombocytopenia, Pancytopenia, Vascular calcification |
OMIM:231000 |
Propionic Acidemia |
|
Pancytopenia, Increased level of hippuric acid in urine, Eczema, Thrombocytopenia, Cerebellar hem... |
OMIM:606054 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Pancytopenia, Gastroesophageal reflux, Delayed closure of the anterior fontanelle |
ORPHA:251009 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutrop... |
ORPHA:124 |
Acute Monoblastic/Monocytic Leukemia |
|
Bone marrow hypercellularity, Acute monocytic leukemia, Ankle swelling, Leukocytosis, Oliguria, A... |
ORPHA:514 |
Immunodeficiency 102 |
|
Recurrent skin infections, Autoimmune thrombocytopenia, Bronchiectasis, Increased proportion of C... |
OMIM:301082 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Abnormal gastrointestinal v... |
ORPHA:70475 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... |
OMIM:603909 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T... |
OMIM:618982 |
Thrombocytopenia 5 |
|
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop... |
OMIM:259710 |
Schnitzler Syndrome |
|
Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphoma, Arthritis, Anemia |
ORPHA:37748 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Death in infancy, Autoimmune thrombocytopenia, Sple... |
OMIM:617514 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Anemia, Refractory anemia with ringed sideroblasts, Reduced hemato... |
OMIM:619523 |
Immunodeficiency 8 With Lymphoproliferation |
|
Recurrent otitis media, Lymphopenia, Gastroesophageal reflux, Chronic oral candidiasis |
OMIM:615401 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... |
OMIM:610755 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Thrombocytopenia, Abnormal natural ... |
ORPHA:79124 |
Monosomy 22 |
|
Aplasia of the thymus, Seborrheic dermatitis, Schwannoma, Hypochromic microcytic anemia, Hepatosp... |
ORPHA:96123 |
Trichothiodystrophy |
|
Joint dislocation, Congenital exfoliative erythroderma, Eczema, Craniosynostosis, High, narrow pa... |
ORPHA:33364 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... |
ORPHA:2869 |
Acute Promyelocytic Leukemia |
|
Bone marrow hypercellularity, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytope... |
ORPHA:520 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Ectopic kidney, Thrombocytopenia, Patent ductus arteriosus, Esophageal atresia, Ret... |
OMIM:227646 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hyp... |
ORPHA:88 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Eczema, Camptodactyly of f... |
ORPHA:2907 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic kidney disease... |
OMIM:613845 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count, Lymphoid hyperplasia |
OMIM:616452 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Reticulocytopenia, Bone... |
ORPHA:101096 |
Livedoid Vasculopathy |
|
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Abnormal capillary morphol... |
ORPHA:542643 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Pancytopenia, Unilateral renal agenesis, Splenomegaly, Patent ductus arteriosus... |
OMIM:614576 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Megaloblastic bone marrow, Hypertensi... |
ORPHA:2169 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Esophageal stricture, Dilated cardiomyopathy, ... |
OMIM:613989 |
Oncogenic Osteomalacia |
|
Hyperphosphaturia, Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carc... |
ORPHA:352540 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Skin rash, Homocystinuria, Megaloblastic anemia, Thrombocytopenia, Patent ductus ar... |
OMIM:277380 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia |
OMIM:617872 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Anal fiss... |
ORPHA:79408 |
Takayasu Arteritis |
|
Arteritis |
OMIM:207600 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... |
OMIM:620135 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Multicystic kidney dysplasia, Hydroureter, Recurrent skin infections, Pneumon... |
ORPHA:79404 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Temporal Arteritis |
|
Retinal arteritis |
OMIM:187360 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Transaldolase Deficiency |
|
Pancytopenia, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Hepatosplenomegaly, Coarc... |
OMIM:606003 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Truncal obesity, Micropenis |
ORPHA:75858 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Gastroesophageal reflux, Glossitis, ... |
ORPHA:90045 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Atopic dermatitis, Anteriorly placed anus, Glabellar hemangioma, Lymphopenia... |
OMIM:618624 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... |
ORPHA:86839 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulo... |
OMIM:607426 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Proximal radio-ulnar synostosis, Aplastic a... |
OMIM:605432 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hepatomegaly, Hyperactivity, Dystonia |
OMIM:615924 |
Immunodeficiency 36 With Lymphoproliferation |
|
B-cell lymphoma, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Increased proportion o... |
OMIM:616005 |
Specific Granule Deficiency 2 |
|
Death in infancy, Absent neutrophil specific granules, Bone marrow maturation arrest, Myelodyspla... |
OMIM:617475 |
Xeroderma Pigmentosum, Complementation Group E |
|
Keratitis, Telangiectasia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, C... |
OMIM:278740 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Recurrent skin infections, Recurrent p... |
OMIM:614868 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Pancytopenia, Esophageal stenosis, Aplastic anemia, Bone marrow hypocellularity, Oral leukoplakia |
OMIM:616553 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Aplastic Anemia |
|
Aplastic anemia, Bone marrow hypocellularity |
OMIM:609135 |
Gaucher Disease Type 1 |
|
Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Hematur... |
ORPHA:77259 |
Retinoblastoma |
|
Lymphoma, Cleft palate, Vitreous hemorrhage, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, ... |
OMIM:180200 |
Ovarian Fibrothecoma |
|
Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis |
ORPHA:314478 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopen... |
ORPHA:100026 |
Mccune-Albright Syndrome |
|
Pancytopenia, Hyperphosphaturia, Cutaneous myxoma, Hepatitis, Breast carcinoma, Hepatocellular ad... |
ORPHA:562 |
Xeroderma Pigmentosum, Complementation Group C |
|
Keratitis, Telangiectasia, Basal cell carcinoma, Squamous cell carcinoma of the skin, Conjunctivi... |
OMIM:278720 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Villous atrophy, Malabsorption, Thrombocytopenia, Reticulocyt... |
OMIM:557000 |
Immunodeficiency 50 |
|
Lymphopenia, Eczema, Neutropenia |
OMIM:300988 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Telangiectasia, Anteriorly placed anus, Squamous cell carcinoma, Basa... |
OMIM:268400 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Lymphoma, Hyphema, Pineoblast... |
ORPHA:790 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Megaloblastic bone marr... |
OMIM:275350 |
Tufted Angioma |
|
Megakaryocytopenia, Anemia, Neoplasm of the skin, Hemangioma of the lip, Thrombocytopenia, Facial... |
ORPHA:1063 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Osteomyelitis, Craniosynostosis, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:259700 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Terminal Osseous Dysplasia |
|
Fibroma, Camptodactyly of finger, Cleft palate |
OMIM:300244 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Urethral stenosis, Leukopenia, Bone marrow hyp... |
OMIM:613990 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... |
OMIM:620189 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Failure to thri... |
ORPHA:858 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphoma, Anemia |
ORPHA:100025 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Pancytopenia, Pneumonia, Hepatosplenomegaly, Oligosacchariduria, Macrogloss... |
ORPHA:309288 |
Dyskeratosis Congenita, Digenic |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Gastroesophageal reflux, Dys... |
OMIM:620040 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Pancytopenia, Hypoplasia of penis, Telangiectasia of the skin, Renal hypoplasia |
ORPHA:85321 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Polyarticular arthritis, Lym... |
OMIM:616744 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Hemangiomatosis, Visceral angiomatosis, Patent ductus arteriosus, Thrombocyt... |
ORPHA:2123 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Huriez Syndrome |
|
Squamous cell carcinoma of the skin |
OMIM:181600 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Lymphoma, Recurrent pneumo... |
ORPHA:47612 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... |
OMIM:259720 |
Bazex Syndrome |
|
Anemia, Neoplasm, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Genu varum, Arterial stenosis, Chronic myelogenous leukemia, Genu valgum, Multiple l... |
ORPHA:636 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus, Death in childhood |
OMIM:200900 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Oral leukoplakia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Hypospadias, Eczema, Atopic dermatitis, Recurrent otitis media, Anemia |
OMIM:620331 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
Bangstad Syndrome |
|
Pancytopenia |
OMIM:210740 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Gastroesophageal reflux, Neut... |
ORPHA:443811 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Skin rash, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukopenia, Hemophag... |
OMIM:603553 |
Primary Sclerosing Cholangitis |
|
Cholangiocarcinoma, Renal insufficiency, Abnormal eosinophil morphology, Portal hypertension, Spi... |
ORPHA:171 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Bone marrow hypocellularity, Pterygium, Oral... |
OMIM:224230 |
Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Absence ... |
OMIM:613254 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Aplastic anemia, Esophageal atresia, Patent ductus arteriosus, Tracheoesophagea... |
OMIM:300514 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Hypoplasia of the thymus, Death in childhood, Death in infancy, Psoriasiform derma... |
OMIM:243150 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Gastroesophageal reflu... |
OMIM:613385 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased u... |
ORPHA:760 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenome... |
ORPHA:1572 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Odynophagia, Leukopenia, Hemoglobinuria, Renal Fanconi... |
ORPHA:447 |
Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Ketonuria, Methylmalonic aciduria, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas... |
ORPHA:1830 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Chilblains, Pneumonia, Hematemesis... |
OMIM:615846 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Dystonia, Hypertrop... |
OMIM:614702 |
Seckel Syndrome 1 |
|
Pancytopenia, Hypospadias, Hip dislocation, Elbow flexion contracture, Cleft palate, High palate,... |
OMIM:210600 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Vitreous floaters, Weight loss, Cardiomegaly |
ORPHA:85447 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitra... |
OMIM:301080 |
Lymphedema-Distichiasis Syndrome |
|
Recurrent skin infections, Proteinuria, Patent ductus arteriosus, Cleft palate, Tubulointerstitia... |
ORPHA:33001 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Hypospadias, Carcinoma |
OMIM:610644 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Thromb... |
ORPHA:47 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, An... |
OMIM:251100 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly |
OMIM:614096 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteomyelitis leading to amputation due to slow healing fractures, Fibrosarcoma, Histiocytoma, Os... |
OMIM:112250 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Aspiration pneumonia, Nephropathy, Achalasia, Diffuse leiomyomatosis, Tr... |
ORPHA:1018 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Increased T cell count, Chronic mucocutaneous candidiasis, Inflammation of the large inte... |
ORPHA:98813 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom... |
OMIM:235200 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Dystonia, Cardiomegaly, Optic atrophy, Choreoathetosis, Dysphagia, Hypertrophic car... |
ORPHA:391428 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Epis... |
ORPHA:167 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... |
ORPHA:276 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect... |
OMIM:615518 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Reduced intraabdominal adipose ... |
ORPHA:363400 |
Dubowitz Syndrome |
|
Aplastic anemia, Eczema, Hypospadias, Velopharyngeal insufficiency, Lymphoma, Submucous cleft har... |
OMIM:223370 |
Ataxia-Telangiectasia |
|
Lymphopenia, Neoplasm, Telangiectasia of the skin, Mucosal telangiectasiae |
ORPHA:100 |
Whim Syndrome |
|
Bone marrow hypercellularity, Lymphopenia, Abnormal small intestine morphology, Sinusitis, Severe... |
ORPHA:51636 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Elevated pro... |
OMIM:619802 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Thyroiditis, Hepatitis, Hepatosple... |
ORPHA:228426 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Lymphopenia, Eosinophilia |
ORPHA:2582 |
Xeroderma Pigmentosum, Complementation Group A |
|
Keratitis, Telangiectasia, Melanoma, Conjunctivitis, Squamous cell carcinoma of the skin |
OMIM:278700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
OMIM:619064 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Ventricular septal defect, Aggressive behavior, Precocious puberty, Cryptorchidism... |
ORPHA:3306 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav... |
ORPHA:3077 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Recurrent skin infections, Splenomegaly, Cleft palate, Coarctation of aorta, L... |
OMIM:620210 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Pancytopenia, Skin rash, Dilated cardiomyopathy, Death in childhood |
OMIM:618321 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
Adult Idiopathic Neutropenia |
|
Granulocytic hypoplasia, Bone marrow hypercellularity, Helicobacter pylori infection, Abnormal ne... |
ORPHA:2688 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia |
ORPHA:26137 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly |
OMIM:269920 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Cholecystiti... |
ORPHA:99827 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Ganglioneuroblastoma, Elevated urinary dopamine level, Abno... |
OMIM:256700 |
Oculocutaneous Albinism Type 1B |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79434 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulce... |
ORPHA:99880 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Leiomyosarcoma, Hyperten... |
ORPHA:139411 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Megakaryocyte dysplasia, Eczema, Myelodysp... |
ORPHA:508542 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Intestinal lymphangiectasia, Stillbirth, Malabsorption |
OMIM:152800 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Pericardial constriction... |
OMIM:253250 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... |
OMIM:600649 |
Omenn Syndrome |
|
Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditis, Nephrotic syndrome, E... |
ORPHA:39041 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulce... |
ORPHA:143 |
Meige Disease |
|
Angiosarcoma, Varicose veins, Recurrent bacterial skin infections, Recurrent skin infections |
ORPHA:90186 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Au... |
OMIM:613179 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, T lymphocytope... |
ORPHA:277 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
Immunodeficiency 23 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Eosinophil... |
OMIM:615816 |
Hemochromatosis, Type 3 |
|
Arthritis, Cardiomyopathy, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
Xeroderma Pigmentosum, Complementation Group B |
|
Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:610651 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Arteriosclerosis, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:220295 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Intracranial... |
ORPHA:363618 |
Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cherry red spot of the... |
OMIM:256550 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased proportion of... |
OMIM:619510 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuria, Cardiac conduction abnormality, ... |
ORPHA:699 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl... |
ORPHA:424016 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Thrombocytopenia, Distal renal tubular acidosis, Proximal renal tubular acidosis, N... |
ORPHA:2785 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Contracture of the proximal int... |
OMIM:620141 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High p... |
OMIM:619488 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Distal arthrogryposis, Decre... |
ORPHA:42 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Vascular dilatation, Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosclerosis... |
OMIM:617056 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Anal stenosis, Aga... |
OMIM:250250 |
Martin-Probst Syndrome |
|
Renal insufficiency, Pancytopenia, Proteinuria, Telangiectasia, Chordee, Micropenis |
OMIM:300519 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Small for gestational age, Abnormal reproductive system morphology... |
ORPHA:1916 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Gaucher Disease |
|
Joint dislocation, Death in infancy, Pancytopenia, Osteomyelitis, Proteinuria, Thrombocytopenia, ... |
ORPHA:355 |
Aicardi Syndrome |
|
Block vertebrae, Hiatus hernia, Recurrent pneumonia, Teratoma, Carcinoma, Cleft palate, Lipoma, H... |
OMIM:304050 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Malabsorption, Cardiomyopathy, Basal... |
ORPHA:79430 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Neutropenia, Abnormal lymphatic vessel morphology, Leukopenia,... |
ORPHA:2330 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Thrombocytopenia, Bronchiect... |
ORPHA:169105 |
Oculocutaneous Albinism Type 1A |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79431 |
Simple Cryoglobulinemia |
|
Myocardial infarction, Nephritis, Membranoproliferative glomerulonephritis, B-cell lymphoma, Rayn... |
ORPHA:91139 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Pancytopenia, Pneumonia, Craniosynostosis, Hepatosplenomegaly, Oligosacchar... |
ORPHA:309282 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumoni... |
OMIM:102700 |
Mirage Syndrome |
|
Hypospadias, Myelodysplasia, Thrombocytopenia, Patent ductus arteriosus, Esophageal stricture, In... |
OMIM:617053 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Elevated urinary cate... |
OMIM:115310 |
Wiskott-Aldrich Syndrome |
|
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Nephropathy... |
OMIM:301000 |
Primary Intestinal Lymphangiectasia |
|
Disseminated cutaneous warts, Functional abnormality of the gastrointestinal tract, Abnormal lymp... |
ORPHA:90362 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Craniosynostosis, Squamous cell carcinoma of the skin, Smooth tongue, ... |
ORPHA:79396 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... |
ORPHA:465508 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Renal insufficiency, Epistaxis, Abnormality of ne... |
ORPHA:33226 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Gaucher Disease Type 3 |
|
Pancytopenia, Proteinuria, Splenomegaly, Anemia, Hematuria, Pulmonary arterial hypertension, Thro... |
ORPHA:77261 |
Fusariosis |
|
Brain abscess, Myositis, Fasciitis, Sinusitis, Maculopapular exanthema, Pneumonia, Hematological ... |
ORPHA:228119 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Calcification of the aorta, Pancytopenia |
OMIM:231005 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Anal fissure, Perianal abscess, Lymphadeni... |
OMIM:618935 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Atrial septal defec... |
OMIM:620327 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Erythroid hypoplasia, Genu valgum, Anemia, Cubitus valgus, Thrombocytopenia... |
OMIM:620072 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia |
OMIM:606764 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Large for gestational age, Congenital ... |
OMIM:239850 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Seborrheic dermatitis, Malabsorpt... |
ORPHA:2796 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Ventricular septal defect, Hypospadias, Cryptorchidism, Micropenis, Abnormal optic... |
OMIM:617516 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Myelodysplasia, Neutropenia, Lymp... |
OMIM:617827 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... |
ORPHA:555874 |
Multiple Endocrine Neoplasia Type 4 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary prolac... |
ORPHA:276152 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... |
OMIM:304790 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous... |
OMIM:608800 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Small for gestational age, Cardiomegaly, Flexion contract... |
OMIM:616897 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... |
ORPHA:324410 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... |
OMIM:616100 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Sple... |
ORPHA:2072 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Neutrophilia, A... |
ORPHA:3260 |
Fucosidosis |
|
Hepatomegaly, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Failure to thrive |
ORPHA:349 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Erythrod... |
ORPHA:169154 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Pyloric stenosis, Neoplasm of the skin, Neutropenia, Meckel diverticulum |
OMIM:616395 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop... |
OMIM:201475 |
Mogs-Cdg |
|
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Hydro... |
ORPHA:79330 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Cardiomegaly, Hepatosplenomegaly, Cherry red spot of ... |
OMIM:268800 |
Tuberous Sclerosis Complex |
|
Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Renal cyst, Pheoc... |
ORPHA:805 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia, Telangiectasia of the skin, Myoc... |
ORPHA:221 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Dystonia, C... |
ORPHA:309246 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Acetabular dysplasia, Total anomalous pulmonary venous return, Anemia |
OMIM:618313 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar... |
OMIM:175050 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Pudendal Neuralgia |
|
Anal canal adenocarcinoma, Dysuria, Genital neoplasm, Neoplasm of the genitourinary tract, Pollak... |
ORPHA:60039 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Lymphopenia, Myositis, Renal insufficiency, Skin rash,... |
ORPHA:93552 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
Oculocutaneous Albinism Type 2 |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
ORPHA:79432 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Lymphoma, Bronchiectasis, Hodgkin lymphoma, Acute lymphob... |
OMIM:208900 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Recurrent pneumonia, Atopic dermatitis, Bronchiectasis, Chronic mucocu... |
OMIM:619752 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Refsum Disease, Classic |
|
Cardiomyopathy, Rod-cone dystrophy, Retinal degeneration, Cardiomegaly |
OMIM:266500 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia, Eosinophili... |
ORPHA:331206 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenome... |
ORPHA:169160 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Addictive alcohol use, Cirrhosis, ... |
ORPHA:57777 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Hypergonadotropic hypogonadism,... |
OMIM:602782 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... |
ORPHA:2929 |
Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Exaggerated startle response, Mitral valve prolapse, Hepatosplenom... |
ORPHA:309155 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Intestinal malrotation, Portal hypertension, Esophageal varix, Dilatation of the ce... |
OMIM:613658 |
47,Xyy Syndrome |
|
Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Congenital stationary night blindness, O... |
ORPHA:8 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Iridocyclitis, Splenomegaly, Bronchiectasis, Uveitis, Hypercalciuria, Arthritis, In... |
OMIM:181000 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco... |
ORPHA:2686 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Failure to thrive, Cardiomegaly |
ORPHA:99931 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased body weight, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Opisthotonus... |
OMIM:608013 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly |
OMIM:618798 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash... |
OMIM:619381 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... |
OMIM:614921 |
Syndromic Diarrhea |
|
Aortic regurgitation, Lymphopenia, Villous atrophy, Gastritis, Increased mean platelet volume, Sp... |
ORPHA:84064 |
Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Exaggerated startle response, Flexion contracture |
OMIM:618201 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Pancytopenia, Phimosis, Urinary bladder inflammation, Esophageal stricture, Xerostomia... |
ORPHA:99921 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Inappro... |
OMIM:618143 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Perianal abscess, P... |
OMIM:612541 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Dilated cardiomyopathy, Flexion contracture, My... |
OMIM:253800 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hyper... |
OMIM:617713 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... |
ORPHA:97286 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Myositis, Skin rash, Raynaud phenomenon, Pustule, Telangiectasia, Leukopenia, Thromb... |
OMIM:615934 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Neoplasm of the skeletal system, Osteomyelitis, Skin rash, Pustule... |
ORPHA:793 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Tremor, Amyloid deposition in the vitreous humor, Cardiomyopathy, Intention tremor |
OMIM:105210 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Hyperactivity, Inguinal hernia, Aggressive behavior, Cardiomegaly, Hypersexuality, ... |
ORPHA:581 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Flexion contracture, Optic atrophy |
OMIM:609541 |
Sitosterolemia 1 |
|
Reticulocytosis, Carotid artery stenosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthri... |
OMIM:210250 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... |
OMIM:242700 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:608836 |
Legionnaires Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Hepatitis, Endocarditi... |
ORPHA:549 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis, Retinopathy |
OMIM:603903 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy |
ORPHA:320406 |
Revesz Syndrome |
|
Oral leukoplakia, Aplastic anemia, Bone marrow hypocellularity |
OMIM:268130 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... |
ORPHA:892 |
Blau Syndrome |
|
Xerostomia, Large vessel vasculitis, Posterior uveitis, Nephropathy, Abnormal salivary gland morp... |
ORPHA:90340 |
Avian Influenza |
|
Miscarriage, Pneumonia, Congestive heart failure, Thrombocytopenia, Hepatitis, Leukopenia, Conjun... |
ORPHA:454836 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, Optic atrophy, Cardiomegaly |
OMIM:619259 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Hernia, Dystonia, Cherry red spot ... |
OMIM:230000 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Arthritis, Panniculitis, Conjunct... |
OMIM:617591 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Abnormal internal carotid artery morphology, Pheochrom... |
ORPHA:97685 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Cardiomegaly |
OMIM:613320 |
Leukodystrophy, Hypomyelinating, 13 |
|
Failure to thrive, Exaggerated startle response, Joint contracture, Optic atrophy |
OMIM:616881 |
Generalized Pustular Psoriasis |
|
Renal insufficiency, Pustule, Congestive heart failure, Leukocytosis, Cheilitis, Uveitis, Arthrit... |
ORPHA:247353 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... |
ORPHA:3427 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic... |
OMIM:614294 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Tremor, Precocious puberty, Optic atrophy, Hepatosplenome... |
ORPHA:845 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega... |
OMIM:300967 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Op... |
OMIM:617301 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras... |
ORPHA:35078 |
Mucopolysaccharidosis Type 2 |
|
Abnormal tricuspid valve morphology, Abnormal repetitive mannerisms, Retinal degeneration, Opposi... |
ORPHA:580 |
Cogan Syndrome |
|
Aortic regurgitation, Episcleritis, Keratitis, Leukocytosis, Vasculitis, Uveitis, Large vessel va... |
ORPHA:1467 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Schwannoma, Ossifying fibroma, Genu valgum, Hypertrophic cardiomyopathy, Mitral regurg... |
ORPHA:363700 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Death in infancy, Eosinophilia, Delayed ossification of carpal bones, Erythroderma, Lymphopenia, ... |
OMIM:617425 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Left ven... |
ORPHA:308552 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Abnormal odontoid tissue morpho... |
ORPHA:79255 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Melena, Leuk... |
ORPHA:319218 |
Icf Syndrome |
|
Abnormality of neutrophils, Protruding tongue, Malabsorption, Macroglossia, Lymphopenia, Anemia |
ORPHA:2268 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis, Granulocytopenia,... |
ORPHA:454831 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Intestinal lymphedema, B-cell lymphoma, Right ventricular failure, Celiac... |
ORPHA:90363 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hiatus hernia |
OMIM:614618 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Agitation, Truncal titubation |
OMIM:618056 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... |
OMIM:619573 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, B lymphocytopenia, Otitis media, Ab... |
OMIM:602450 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hiatus hernia |
OMIM:614619 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple... |
OMIM:618278 |
Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Maculopapular exanthema, Skin rash, Microscopic hematuria, Myocarditi... |
ORPHA:319213 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancre... |
OMIM:130650 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Failure to thrive, Exaggerated startle response, Joint contracture, Optic nerve hypoplasia |
OMIM:617864 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Vasculitis, Recurrent pneumonia, Decreased mean platelet volume, Hematochezia, Subconj... |
OMIM:617718 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Multiple joint contractures, Lipoatrophy, Cardiomegaly, Tremor, He... |
ORPHA:51 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Renal hypoplasia,... |
OMIM:174000 |
Hyperekplexia 1 |
|
Umbilical hernia, Exaggerated startle response, Inguinal hernia |
OMIM:149400 |
Floating-Harbor Syndrome |
|
Restlessness, Atrial septal defect, Hypospadias, Small for gestational age, Impulsivity, Aggressi... |
ORPHA:2044 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology... |
ORPHA:228308 |
Hennekam Syndrome |
|
Benign neoplasm of the central nervous system, Camptodactyly of finger, Craniosynostosis, Malabso... |
ORPHA:2136 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, De... |
OMIM:618460 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Neutropenia, T lymphocytopenia, Joint... |
OMIM:607944 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Pancreatoblastoma, Pituitary co... |
ORPHA:99889 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Hepatic hema... |
OMIM:193300 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Cantú Syndrome |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... |
OMIM:600802 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane... |
OMIM:614162 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Loss of truncal subcutaneous adipose tissue, Cardiomegaly |
ORPHA:2463 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flex... |
OMIM:245600 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Failure to thri... |
ORPHA:14 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Optic atrophy, Exaggerated startle response |
OMIM:617281 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Optic atrophy, Contractures of the large joints, Dystonia, Impaired... |
ORPHA:521426 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Elevated hepatic iron concentration, Atrial septal defect, Pan... |
OMIM:619991 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Lipodystrophy, Camptodactyly of f... |
OMIM:256040 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Cardiomegaly, Bilateral wrist flexion contracture, Optic atrophy, Congenital con... |
ORPHA:97297 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Choreoacanthocytosis |
|
Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Hepatomegaly, Self-mutilation of tongue ... |
ORPHA:2388 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Polycystic ovaries, Failure... |
ORPHA:137675 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Hypospadias, Biliary tract abnormality, Hypoplasia of the uterus, ... |
OMIM:137920 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Optic atrophy, Contractures of the large joints, Dysphagia, Failure... |
OMIM:617527 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy, Dysphagia |
ORPHA:268 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
Marburg Hemorrhagic Fever |
|
Odynophagia, Uveitis, Abnormal number of granulocyte precursors, Leukopenia, Abnormal lymphocyte ... |
ORPHA:99826 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Hepatoblastoma, Congenital diaphragmatic hernia, Card... |
ORPHA:116 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Floating-Harbor Syndrome |
|
Inguinal hernia, Hypospadias, Aggressive behavior, Cryptorchidism, Glandular hypospadias, Epididy... |
OMIM:136140 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Camptodactyly, Umbilical hernia, Hyper... |
OMIM:252500 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Flexion contracture, Elevated circulating alanine aminotransferase co... |
ORPHA:365 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Abnormal aortic arch morphology, Conotruncal defect, Cleft palate, Gast... |
ORPHA:2306 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Dystonia, Bicuspid aortic valve, Ventricular sep... |
ORPHA:438213 |
Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... |
ORPHA:95430 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Failure to thrive, Optic nerve hypoplasia |
OMIM:615574 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Tremor, Compulsive behaviors, Atrial se... |
ORPHA:904 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality of connective tissue, Inguinal hernia, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocele t... |
OMIM:619522 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Aganglionic megacolon, Anemia, Malabsorption |
ORPHA:935 |
Cushing Disease |
|
Increased urinary cortisol level, Acne, Myocardial infarction, Pituitary corticotropic cell adeno... |
ORPHA:96253 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... |
ORPHA:3472 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ... |
ORPHA:75565 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Erythema nodosum, Splenomegaly, Lip telangiectas... |
OMIM:613471 |
Phacoanaphylactic Uveitis |
|
Anterior uveitis, Keratitis, Hyphema, Retinal arteritis, Panuveitis, Posterior uveitis |
ORPHA:209959 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Choroidal neovascularization, Failure to thrive in infancy, Cardiomegaly... |
ORPHA:51608 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Dysphagia |
OMIM:618367 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |