| Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... |
ORPHA:158048 |
| Gaisböck Syndrome |
|
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Gout, Increased mean corpuscu... |
ORPHA:90041 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
| Hypophosphatasia |
|
Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Hypercalcemia, Bowing of the long... |
ORPHA:436 |
| Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:619802 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Clinodactyly of the 5th finger, Lymphopenia, Abnormal hair quantity, Hypoproteinemia, Bilateral s... |
ORPHA:1116 |
| Hypophosphatasia, Infantile |
|
Failure to thrive, Bowing of the legs, Metaphyseal cupping, Widely patent fontanelles and sutures... |
OMIM:241500 |
| Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... |
OMIM:301082 |
| Multiple Myeloma |
|
Splenomegaly, Osteopenia, Hyperproteinemia, Pathologic fracture, Elevated circulating creatinine ... |
ORPHA:29073 |
| Alg12-Cdg |
|
Abnormal pinna morphology, Muscular ventricular septal defect, B lymphocytopenia, Sandal gap, Sho... |
ORPHA:79324 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
| Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Short distal phalanx of finger, Mandibular osteomyelitis, Hypocalc... |
ORPHA:53 |
| Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Hypertrichosis, Dermatochalasis, Clinodactyly of the 3rd finger, Cone-shaped epiphysis, Clinodact... |
ORPHA:221139 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Metaphyseal dysplasia, Decreased body weight, Atrial septal defect... |
ORPHA:1667 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morph... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morph... |
ORPHA:529799 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Right atrial enlargement, Restrictive cardiomyopath... |
OMIM:619313 |
| Mirage Syndrome |
|
Adrenal insufficiency, Decreased body weight, Lymphopenia, Talipes equinovarus, Hypergonadotropic... |
OMIM:617053 |
| Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Abnormal autonomic nervous system physiology, Oculogy... |
ORPHA:94093 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Failure to thrive, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
| Omenn Syndrome |
|
Failure to thrive, Hypoproteinemia, Splenomegaly, Alopecia, Eosinophilia, Hypoplasia of the thymu... |
OMIM:603554 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Abnormal hair morphology, Lymphopenia, Prominent floating ribs |
OMIM:152800 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Coarse hair, Short neck, Optic atrophy, Long eyelashes, Bone marrow hypocellularity, Flexion cont... |
OMIM:617303 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Talipes equinovarus, Lymphopenia, Persistence of primary teeth, Supernumerary tooth, Joint hyperm... |
OMIM:619752 |
| Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Ocular albinism, Fair hair, Splenomegaly, Upslanted palpebral f... |
OMIM:608233 |
| Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count |
OMIM:618261 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Joint swelling, Osteomyelitis, Elevated circulating C-reac... |
OMIM:619381 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... |
OMIM:212050 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Craniosynostosis, Long nose, Short nose, Severe platyspondyly, Sacral dimple, Narrow greater scia... |
ORPHA:508533 |
| Rhabdoid Tumor |
|
Weight loss, Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:69077 |
| Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
| Cartilage-Hair Hypoplasia |
|
Abnormal cardiac septum morphology, Sparse hair, Sparse eyebrow, Abnormally ossified vertebrae, S... |
ORPHA:175 |
| Pelger-Huet Anomaly |
|
Failure to thrive, Kyphosis, Hyposegmentation of neutrophil nuclei, Upper limb undergrowth, Short... |
OMIM:169400 |
| Immunodeficiency 48 |
|
Failure to thrive, Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Hypomagnesemia, Leukopenia, Hyperuricemia, Diabetes mellitus, Hyponatremia, An... |
OMIM:613845 |
| Wiskott-Aldrich Syndrome |
|
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Abnormal heart morphology, Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
| Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hemophagocytosis, Splenomegaly, ... |
OMIM:267700 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal cardiac septum morphology, Abnormal hemoglobin, Short neck, Scoliosis, Abnormal form of ... |
ORPHA:3319 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... |
ORPHA:199299 |
| Oculoskeletodental Syndrome |
|
Hypocalcemia, Low anterior hairline, Splenomegaly, Small for gestational age, Wide nasal bridge, ... |
OMIM:618440 |
| Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the femoral head, Th... |
OMIM:209950 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... |
OMIM:600903 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Cellulitis, Abnormally low T cell receptor excision circle level, Hepat... |
OMIM:618986 |
| Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Osteomyelitis, T lympho... |
ORPHA:443811 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia |
ORPHA:169095 |
| Oculocerebrodental Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Metaphyseal dysplasia, Hypocalce... |
ORPHA:557003 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
| Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cel... |
OMIM:619510 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Craniosynostosis, Carious teeth, Optic atrophy, Pancytop... |
OMIM:259700 |
| Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
| Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormality of the thyroid gland, Kyphosis, Abnor... |
ORPHA:3344 |
| Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Perianal abscess, Reduced natural killer... |
OMIM:618108 |
| Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Immunodeficiency 54 |
|
Adrenal insufficiency, Failure to thrive, Adrenocorticotropic hormone excess, Splenomegaly, Reduc... |
OMIM:609981 |
| Alg8-Cdg |
|
Failure to thrive, Talipes equinovarus, Small for gestational age, Anemia, Brachydactyly, Camptod... |
ORPHA:79325 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Sensorineural hearing impairment, Bone cyst, Hypercalcemia, Hyperparathyroidism, Anemia |
ORPHA:2668 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Micrognathia, T lymphocytopenia, Epicanthus, Short nose, Low-set ears, Reduced... |
OMIM:242860 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyroiditis... |
ORPHA:83601 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Johanson-Blizzard Syndrome |
|
Sensorineural hearing impairment, Failure to thrive, Abnormal cardiac septum morphology, Hypoprot... |
ORPHA:2315 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Hemophagocytosis, Splenomegaly, ... |
OMIM:603553 |
| Temple Syndrome |
|
Joint hypermobility, Flexion contracture, Small for gestational age, Maturity-onset diabetes of t... |
OMIM:616222 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor... |
ORPHA:293978 |
| Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Abnormality of the humerus, Thin bony cortex, Abnormal bone stru... |
ORPHA:249 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Sensorineural hearing impairment, Clinodactyly of the 5th finger, Amegakaryocytic thrombocytopeni... |
ORPHA:71289 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Anisocytosis, Abnormality of iron homeostasis, Genu valgum, Bo... |
ORPHA:231226 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Hypocalcemia, Splenomegaly, Hepatosplenomegaly, G... |
OMIM:612526 |
| Herpes Simplex Virus Encephalitis |
|
EEG abnormality, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosi... |
ORPHA:1930 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... |
ORPHA:232 |
| Nephrotic Syndrome, Type 14 |
|
Sensorineural hearing impairment, Adrenal insufficiency, Lymphopenia, Hypothyroidism, Hypertrigly... |
OMIM:617575 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Lymphopenia, Lymphocytosis, Alopecia, Eosinophilia, Hepatosplenomegaly, Autoim... |
ORPHA:169154 |
| Camurati-Engelmann Disease |
|
Abnormality of femur morphology, Abnormality of the humerus, Delayed eruption of teeth, Carious t... |
ORPHA:1328 |
| Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia, Type I diabetes mellitus, Small ... |
ORPHA:275555 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... |
ORPHA:167 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Low-set ears, Failure to thrive, Talipes equinovarus, Short neck, Camptodactyly, Hypothyroidism, ... |
OMIM:608104 |
| Takenouchi-Kosaki Syndrome |
|
Abnormal cardiac septum morphology, Sparse eyebrow, Tapered finger, Optic atrophy, Downslanted pa... |
OMIM:616737 |
| Lathosterolosis |
|
Anisopoikilocytosis, Schistocytosis, Downslanted palpebral fissures, Short nose, Cataract, Talipe... |
OMIM:607330 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal calcium-phosphate regulating hormone level, Hypoammonemia, Platyspondyly, Delayed erupti... |
ORPHA:534 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
| Leishmaniasis |
|
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Weight loss, Hypoalbuminemia, Pancytope... |
ORPHA:507 |
| Necrotizing Enterocolitis |
|
Neutropenia, Leukocytosis, Small for gestational age, Hyponatremia, Abnormal glucose homeostasis,... |
ORPHA:391673 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
| Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu... |
ORPHA:93323 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, ... |
ORPHA:251004 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Brachydactyly, B lympho... |
OMIM:618048 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Failure to thrive, Hypoproteinemia, Leukocytosis, Splenomegaly, Elevated circulating creatine kin... |
OMIM:615895 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Osteoporosis, Gout, Impaired glucose tolerance, Hypertriglyc... |
OMIM:610947 |
| Addison Disease |
|
Thymoma, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating ren... |
ORPHA:85138 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Scarring, Failure to thrive, Increased blood urea nitrogen, ... |
ORPHA:90321 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Arachnodactyly, Hepatosplenomegaly, Scoliosis, Hypothyroidism, Hypertriglyceridemia, Microcytic a... |
OMIM:619013 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Failure to thrive, Lymphopenia, Abnormally low T cell rece... |
ORPHA:276 |
| Storage Pool Platelet Disease |
|
Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
| X-Linked Agammaglobulinemia |
|
Sensorineural hearing impairment, Failure to thrive, Hypocalcemia, Osteomyelitis, Cellulitis, Alo... |
ORPHA:47 |
| Acute Adrenal Insufficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Sparse axillary hair, Decreased circu... |
ORPHA:95409 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Optic disc pallor, Hip subluxation, Pancytopenia, Cranial hyperostosis, Hyperbilir... |
OMIM:259720 |
| Hyperparathyroidism, Neonatal Severe |
|
Failure to thrive, Metaphyseal irregularity, Hypophosphatemia, Recurrent fractures, Aminoaciduria... |
OMIM:239200 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Increased erythrocyte protoporphyrin concentration, Myeloproliferative... |
ORPHA:100924 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count |
OMIM:243700 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormality of the vertebral column, Coxa valga, Hypercalcemia |
OMIM:191420 |
| Dengue Fever |
|
Leukopenia, Thrombocytopenia, Hypoproteinemia |
ORPHA:99828 |
| Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... |
ORPHA:91547 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia, Thin ribs, Congenital hypoparathyroidism, Small hand, Slender long ... |
OMIM:244460 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... |
ORPHA:86841 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Decreased response to growth hormone stimulation tes... |
OMIM:614732 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
| Symbrachydactyly Of Hands And Feet |
|
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... |
ORPHA:1570 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypertrichosis, Hypocalcemia, Hypoproteinemia, Splenomegaly, Inguinal hernia, Micrognathia, Short... |
OMIM:235255 |
| Rothmund-Thomson Syndrome Type 2 |
|
Sparse hair, Metaphyseal sclerosis, Long nose, Osteopenia, Sparse or absent eyelashes, Aplastic a... |
ORPHA:221016 |
| Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Delayed eruption of teeth, Truncal obesity, Hypogly... |
ORPHA:181393 |
| Syndromic Diarrhea |
|
Bicuspid aortic valve, Lymphopenia, Woolly hair, Inguinal hernia, Splenomegaly, Brittle hair, Sma... |
ORPHA:84064 |
| Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
| Trichohepatoenteric Syndrome 1 |
|
Sparse hair, Hypermethioninemia, Abnormality of iron homeostasis, Downslanted palpebral fissures,... |
OMIM:222470 |
| Rothmund-Thomson Syndrome |
|
Sparse hair, Sparse eyebrow, Osteopenia, Aplastic anemia, Delayed eruption of teeth, Carious teet... |
ORPHA:2909 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Slanting of the palpebral fissure, Tapered finger, Tremor, Short nose, Eruption failure, Clinodac... |
ORPHA:476126 |
| X-Linked Lymphoproliferative Disease |
|
Histiocytosis, Increased circulating ferritin concentration, Lymphocytosis, Hemophagocytosis, Spl... |
ORPHA:2442 |
| Legionnaires Disease |
|
Lymphopenia, Cellulitis, Splenomegaly, Endocarditis, Myocarditis, Hyponatremia, Bone marrow hypoc... |
ORPHA:549 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Alopecia, Glycosuria, Abnormalit... |
ORPHA:2298 |
| Rothmund-Thomson Syndrome Type 1 |
|
Sparse hair, Metaphyseal sclerosis, Osteopenia, Sparse or absent eyelashes, Aplastic anemia, Dela... |
ORPHA:221008 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated circulating c... |
OMIM:616828 |
| Shigellosis |
|
Splenic abscess, Corneal ulceration, Leukocytosis, Abscess, Myocarditis, Arthritis, Hypoglycemia,... |
ORPHA:810 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Lymphocytosis, Iron deficiency anemia, Art... |
OMIM:301074 |
| Holoprosencephaly |
|
Abnormal antihelix morphology, Short neck, Optic atrophy, Ventricular septal defect, Omphalocele,... |
ORPHA:2162 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Hypoalbuminemia, Clubbing of fingers, Cl... |
OMIM:226300 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Arthritis, Impaired platelet aggregatio... |
OMIM:210250 |
| Infantile Myofibromatosis |
|
Bone cyst, Chondrocalcinosis, Osteolysis, Hypercalcemia, Abnormal sacrum morphology, Abnormal met... |
ORPHA:2591 |
| Thrombocytopenia 1 |
|
Joint hemorrhage, Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean plat... |
OMIM:313900 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Erlenmeyer flask deformity of the femurs, Osteopenia, Intention tremor, Hypocholest... |
OMIM:610539 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Hypogonadotropic hypogonadism, Arthrit... |
OMIM:604250 |
| Leptospirosis |
|
Papilledema, Hyperproteinemia, Chorioretinitis, Uveitis, Pericarditis, Thrombocytopenia, Conjunct... |
ORPHA:509 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal... |
OMIM:619868 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Failure to thrive, Increased LDL cholesterol concentration, Splenomegaly, ... |
OMIM:278000 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Sensorineural hearing impairment, Impaired epinephrine-induced platelet aggregation, Neutrophil i... |
OMIM:155100 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypertrichosis, Short neck, Optic atrophy, Short nose, Long eyelashes, Bone marrow hypocellularit... |
ORPHA:505248 |
| Alpha-Heavy Chain Disease |
|
Alopecia, Anemia, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
| Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hyp... |
ORPHA:3008 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Syndactyly, Poikilocytosis, ... |
OMIM:615631 |
| Congenital Enterovirus Infection |
|
Leukocytosis, Hyperammonemia, Leukopenia, Myocarditis, Abnormal macrophage morphology, Pericardia... |
ORPHA:292 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Hypophosphatemia, Clinodactyly of the 5th finger, Metaphysea... |
OMIM:156400 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Alopecia, Osteopenia, Down-sloping shoulde... |
OMIM:248370 |
| Japanese Encephalitis |
|
EEG abnormality, Eyelid fasciculation, Neutrophilia, Inappropriate antidiuretic hormone secretion... |
ORPHA:79139 |
| Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia, Reduced bone mineral density, Splenomegaly, Abnormality of throm... |
ORPHA:172 |
| Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Sparse hair, Alopecia, Acroosteolysis of distal phalanges (feet), Increased cir... |
ORPHA:2457 |
| Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinophilia, W... |
ORPHA:2070 |
| Fanconi Anemia |
|
Abnormality of femur morphology, Abnormal cardiac septum morphology, Abnormality of the upper lim... |
ORPHA:84 |
| Porphyria Variegata |
|
Hypertrichosis, Back pain, Inappropriate antidiuretic hormone secretion, Abnormal autonomic nervo... |
ORPHA:79473 |
| Whipple Disease |
|
Splenomegaly, Cachexia, Myocarditis, Arthritis, Hypothyroidism, Pericarditis, Uveitis, Hyponatrem... |
ORPHA:3452 |
| Fechtner syndrome |
|
Neutrophil inclusion bodies, Leukocyte inclusion bodies, High-frequency sensorineural hearing imp... |
OMIM:153640 |
| Cartilage-Hair Hypoplasia |
|
Sparse hair, Sparse eyebrow, Femoral bowing, Macrocytic anemia, Fair hair, Scoliosis, Joint laxit... |
OMIM:250250 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... |
OMIM:232700 |
| Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Anemia, Elevated circulating creatinine concentration, Weight loss, Thrombocytopenia |
ORPHA:90060 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Flexion contracture, Decreased motor nerve conduction velocity, B lymphocytopenia, Hypothyroidism... |
OMIM:619851 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Joint hypermobility, Maturity-onset diabetes of the young, Small hand, Microg... |
ORPHA:254531 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Arthritis, Failure to thrive secondary t... |
OMIM:601457 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Megalocornea, Tapered finger, Downslanted palpebral fissures, Iridodonesis, Abnormal ... |
ORPHA:2479 |
| Cog4-Cdg |
|
Hepatosplenomegaly, Hypercholesterolemia, Thick hair, Thrombocytopenia, Failure to thrive in infancy |
ORPHA:263501 |
| Myh9-Related Disease |
|
Sensorineural hearing impairment, Neutrophil inclusion bodies, Congenital thrombocytopenia, Incre... |
ORPHA:182050 |
| Aicardi-Goutieres Syndrome 2 |
|
Dystonia, Lymphocytosis |
OMIM:610181 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine |
ORPHA:54057 |
| Smith-Magenis Syndrome |
|
EEG abnormality, Abnormality of the thyroid gland, Wide nasal bridge, Brachydactyly, Scoliosis, B... |
OMIM:182290 |
| Sarcoidosis |
|
Bone cyst, Alopecia, Uveitis, Cataract, Enlarged lacrimal glands, Scarring, Weight loss, Joint sw... |
ORPHA:797 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:611926 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... |
OMIM:616860 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Sparse eyebrow, Tapered finger, Optic atrophy, Downslanted palpebral fissures, Abnormal heart mor... |
ORPHA:487796 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... |
OMIM:618987 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Abnormal bone structure, Anemia, Splenomegaly |
ORPHA:46532 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Dry hair, Ventricular septal defect, Umbilical hern... |
OMIM:619991 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Craniosynostosis, Osteopenia, Upper limb undergrowth, Abnormal heart morphology, Hypoparathyroidi... |
ORPHA:369837 |
| Mastocytosis |
|
Recurrent fractures, Splenomegaly, Osteoporosis, Mastocytosis, Chronic leukemia, Hypercalcemia, A... |
ORPHA:98292 |
| Poland Syndrome |
|
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Retinal hamartoma, ... |
ORPHA:2911 |
| Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Anterior uveitis, Non-caseating epithelioid cell granulomatosis, Uveitis, Elevated ci... |
OMIM:607665 |
| Hepatocellular Carcinoma |
|
Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Polycythemia, Hypoglycemia, Thrombocy... |
ORPHA:88673 |
| Galactokinase Deficiency |
|
Sensorineural hearing impairment, Failure to thrive, Hyperinsulinemia, Nuclear cataract, Small fo... |
ORPHA:79237 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur,... |
OMIM:602080 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, Band keratopathy, Alopecia, Hypergonadotropic hypogonadism, Osteopen... |
ORPHA:2959 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, T lymphocytopenia, Ridged nail, Nail dystrophy, Nail pits, Decreased helper T cell prop... |
OMIM:601705 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Failure to thrive, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, ... |
ORPHA:911 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Failure to thrive, Aminoaciduria, Flexion contracture, Retrognathia, Anisocytosis, Micrognathia, ... |
OMIM:604273 |
| Congenital Erythropoietic Porphyria |
|
Corneal ulceration, Erythrodontia, Anisocytosis, Osteopenia, Facial hypertrichosis, Osteolysis, R... |
ORPHA:79277 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Increased blood urea nitrogen, Orthostatic hypotension, Hypoglycemia, Bilateral... |
ORPHA:230 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Decreased prealbumin level, Type I diabetes mellitus, Failure to thrive in infancy, Abn... |
ORPHA:37042 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypertrichosis, Hypocalcemia, Hypoproteinemia, Splenomegaly, Inguinal hernia, Micrognathia, Hepat... |
ORPHA:1655 |
| Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hypertrichosis, Low anterior ... |
ORPHA:528 |
| Metaphyseal Anadysplasia |
|
Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... |
ORPHA:1040 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Slc35A1-Cdg |
|
Cellulitis, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules |
ORPHA:238459 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Left ventricular hypertrophy, Hypothyroidism, Hypercholesterolemia, Hypopituitarism... |
ORPHA:90065 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Microcytic anemia, Cataract, Hypoalbuminemia, Failure to thrive in infancy |
OMIM:618805 |
| Snakebite Envenomation |
|
Hypopituitarism, Thrombocytopenia, Hyponatremia |
ORPHA:449285 |
| Cohen Syndrome |
|
Macrodontia of permanent maxillary central incisor, Tapered finger, Narrow palm, Optic atrophy, D... |
OMIM:216550 |
| Vipoma |
|
Elevated calcitonin, Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulating gr... |
ORPHA:97282 |
| Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... |
ORPHA:454836 |
| Shwachman-Diamond Syndrome 1 |
|
Steatorrhea, Metaphyseal sclerosis, Proximal femoral epiphysiolysis, Ovoid vertebral bodies, Panc... |
OMIM:260400 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
| Fibrodysplasia Ossificans Progressiva |
|
Failure to thrive, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hal... |
ORPHA:337 |
| Ménétrier Disease |
|
Weight loss, Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
| Acquired Partial Lipodystrophy |
|
Generalized hirsutism, Lipoatrophy, Lymphocytosis, Insulin resistance, Hearing impairment |
ORPHA:79087 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Bowing of the legs, Hypophosphatemia, Hypocalcemia, Osteomalacia, Iron deficiency anemia, Tooth a... |
ORPHA:89937 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Anisocytosis, Increased RBC distribution width, Schistocytosis, ... |
OMIM:613673 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Nail dysplasia, Hypomagnesemia, Hypokalemia, Hypocalcemia, Alopecia, Cachexia, Cataract, Nail dys... |
OMIM:175500 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... |
OMIM:235400 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Micrognathia, Abn... |
ORPHA:3104 |
| Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
| Selective Igm Deficiency |
|
Keratitis, Neutropenia in presence of anti-neutropil antibodies, Thyroid carcinoma, Cellulitis, D... |
ORPHA:331235 |
| Cohen Syndrome |
|
Tapered finger, Narrow palm, Optic atrophy, Downslanted palpebral fissures, Genu valgum, Long eye... |
ORPHA:193 |
| Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Retrognathia, Hypernatremia, Pituitary hyp... |
OMIM:615926 |
| Pituitary Apoplexy |
|
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... |
ORPHA:95613 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal ery... |
ORPHA:264580 |
| Immunodeficiency 104 |
|
Failure to thrive secondary to recurrent infections, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
| Smith-Magenis Syndrome |
|
Microcornea, Short nose, Mandibular prognathia, Failure to thrive in infancy, Joint stiffness, Pr... |
ORPHA:819 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased size of the mandible, Increased mean platelet volume, Downslanted palpebral fissures, L... |
OMIM:300048 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Schistocytosis, Tremor, Elevated circulating creatinine concentrat... |
OMIM:274150 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
| Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
| Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Osteoarthritis, Impaired gluco... |
OMIM:606069 |
| Specific Granule Deficiency 2 |
|
Nail dysplasia, Low-set ears, Abnormal pinna morphology, Hirsutism, Failure to thrive, Fragile na... |
OMIM:617475 |
| Laron Syndrome |
|
Abnormality of the endocrine system, Short toe, Micrognathia, Osteoarthritis, Brachydactyly, Dela... |
ORPHA:633 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Kyphosis, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism, Os... |
OMIM:212065 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Anisopoikilocytosis, Abnormal... |
ORPHA:231214 |
| Sheehan Syndrome |
|
Central adrenal insufficiency, Decreased circulating cortisol level, Orthostatic hypotension, Cen... |
ORPHA:91355 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Hemophagocytosis, Steatorrhea, Osteopenia, Intraalv... |
ORPHA:470 |
| Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Craniosynostosis, Downslanted palpebral fissures, Ventricular septal defect, Rocker bottom foot, ... |
OMIM:301056 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
| Wt Limb-Blood Syndrome |
|
Sensorineural hearing impairment, Hypoplastic anemia, Clinodactyly of the 5th finger, Absent thum... |
OMIM:194350 |
| Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Failure to thrive, Abnormal pinna morphology, Short toe, Monocytosis, Brachydactyly, Tapered fing... |
OMIM:610680 |
| Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal bone ossification, Decreased response to growth hormone... |
ORPHA:1263 |
| Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Hypocalcemia, Osteomyelitis, Cellulitis, Abscess, Elevated... |
ORPHA:36234 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Sensorineural hearing impairment, Increased circulating ferritin concentration, Hemophagocytosis,... |
ORPHA:540 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Hypogonadotropic hypogonadism, H... |
ORPHA:848 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Polyarticular arthritis, Thrombocytosis |
OMIM:619281 |
| Williams Syndrome |
|
Abnormal cardiac septum morphology, Blue irides, Osteopenia, Megalocornea, Down-sloping shoulders... |
ORPHA:904 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Hypophosphatemia, Hypocalcemia, Bone cyst, Abnormal adipose tissue morpholog... |
ORPHA:93160 |
| Immunodeficiency 91 And Hyperinflammation |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophago... |
OMIM:619644 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Failure to thrive, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Osteopenia, Osteoporosi... |
ORPHA:79259 |
| Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... |
ORPHA:64743 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Alopecia, Myocarditis,... |
ORPHA:31824 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Splenomegaly, Ketotic hypoglycemia, Increased body weight, Elevated circulating creatine kinase c... |
ORPHA:79240 |
| Mu-Heavy Chain Disease |
|
Splenomegaly, Osteoporosis, Abnormal B cell count, Weight loss, Osteolysis, Anemia |
ORPHA:100024 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Increased proportion autorea... |
OMIM:615559 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:277 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Anemia of inadequate production, Decreased mean corpuscular volume, Adrenal i... |
ORPHA:231222 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, Short toe, Talipes equinovarus, Flexion contracture, Aplasia/Hypoplasia of the... |
ORPHA:98791 |
| Megalocornea-Mental Retardation Syndrome |
|
Large fleshy ears, Low anterior hairline, Genu recurvatum, Arachnodactyly, Osteopenia, Cupped ear... |
OMIM:249310 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Small for gestational age, Ani... |
OMIM:224120 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, ... |
OMIM:619824 |
| Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Chorioretinal atrophy, Hepatosplenomegaly, Left ventricular hypertrophy, Scoli... |
OMIM:619487 |
| Acrodysostosis |
|
Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Delayed eruption of teeth, Hypoplasi... |
ORPHA:950 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, Short humerus, Brachydactyly, Delayed eruption of teeth, B lymphocytopen... |
ORPHA:508542 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Conductive hearing impairment, Small hand, Decreased HDL cholesterol concentration, Decreased ser... |
OMIM:618885 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612922 |
| Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Hypocalcemia, Steatorrhea, Alopecia, Rickets, Osteoporosis, Iron deficiency an... |
OMIM:212750 |
| Somatostatinoma |
|
Medullary thyroid carcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Elevated circul... |
ORPHA:97283 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... |
OMIM:619855 |
| Glucagonoma |
|
Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulating growth hormone concentr... |
ORPHA:97280 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Nail dysplasia, Failure to thrive, Decreased body weight, Flexion contracture, Abnormal circulati... |
ORPHA:89842 |
| Hypophosphatemic Rickets |
|
Periapical tooth abscess, Elevated circulating parathyroid hormone level, Enthesitis, Bowing of t... |
ORPHA:437 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Marburg Hemorrhagic Fever |
|
Hypokalemia, Lymphopenia, Back pain, Hyperammonemia, Leukopenia, Elevated circulating creatine ki... |
ORPHA:99826 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
| Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Vacuolated lymphocytes, Steatorrhea, Adrenal calcification, Cachexia, Hepatosp... |
ORPHA:275761 |
| Wilson Disease |
|
Glycosuria, Tremor, Limb dystonia, Hypouricemia, Hypoparathyroidism, Decreased nerve conduction v... |
OMIM:277900 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
| Shwachman-Diamond Syndrome |
|
Steatorrhea, Osteopenia, Aplastic anemia, Delayed eruption of teeth, Macrocytic anemia, Carious t... |
ORPHA:811 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612925 |
| Abetalipoproteinemia |
|
Corneal ulceration, Abnormal circulating apolipoprotein concentration, Failure to thrive, Talipes... |
ORPHA:14 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Glucose intolerance, Anemia, Splenomegaly |
ORPHA:75563 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Hypoplasia... |
OMIM:274000 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... |
ORPHA:90038 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Increased blood urea nitrogen, Anemia, Leukopenia, Glycosuria, Abnormal erythrocyte enzyme level,... |
ORPHA:447 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Short clavicles, Type II diabetes mellitus, Bicuspid aortic valve, Small hand, Highly arched eyeb... |
ORPHA:401923 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Heart-Hand Syndrome Type 2 |
|
Joint stiffness, Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydacty... |
ORPHA:1350 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... |
OMIM:231200 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Sparse hair, Craniosynostosis, Severe B lymphocytopenia, 11 pairs of ribs, Tapered finger, Catara... |
OMIM:620005 |
| Hennekam Syndrome |
|
Conductive hearing impairment, Hypocalcemia, Lymphopenia, Finger syndactyly, Supernumerary tooth,... |
ORPHA:2136 |
| Monosomy 13Q34 |
|
Osteochondrosis, Pulmonic stenosis, Micrognathia, Downslanted palpebral fissures, Epicanthus, Hor... |
ORPHA:96168 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Hypophosphatemia, Metaphyseal cupping, Hypocalcemia, Elevated circulating par... |
OMIM:619073 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal ery... |
ORPHA:370 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Femoral bowing, Delayed eruption of teeth, Thin b... |
ORPHA:289157 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Coarse hair, Short neck, Platyspondyly, Hypoplasia of the capital femoral epiphysis, ... |
OMIM:242900 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Abnormal pericardium morphology, Constrictive pericarditis, Weight loss, Hypoalbumi... |
ORPHA:67 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612926 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoglycemia, Generalized aminoaciduria, Hyp... |
OMIM:251880 |
| Hypervitaminosis A, Susceptibility To |
|
Papilledema, Alopecia totalis, Hypercalcemia |
OMIM:240150 |
