| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Proliferating Trichilemmal Cyst |
|
Sparse scalp hair, Epidermoid cyst, Skin ulcer |
ORPHA:492 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Non-Epidermolytic Palmoplantar Keratoderma |
|
Papule, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis |
ORPHA:505 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Dermal atrophy, Alopec... |
OMIM:617294 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer, Hyperkeratosis lenticularis perstans |
ORPHA:409 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis,... |
ORPHA:525 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera... |
ORPHA:2722 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia |
OMIM:615909 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
| Dermatofibrosarcoma Protuberans |
|
Subcutaneous nodule, Erythema, Skin ulcer |
ORPHA:31112 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum |
OMIM:619986 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Chilblain Lupus 1 |
|
Abnormality of the nail, Skin ulcer |
OMIM:610448 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
| Classic Mycosis Fungoides |
|
Alopecia, Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaque, Hyperkeratosis, Dry skin... |
ORPHA:2584 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
| Juvenile Hyaline Fibromatosis |
|
Aplasia/Hypoplasia of the skin, Abnormal hair morphology, Subcutaneous nodule, Skin ulcer, Papule |
ORPHA:2028 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N... |
OMIM:212360 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
| Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Skin plaque, Erythema, Palmoplantar keratoderma, Hypertrichosis |
OMIM:617524 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Spotty hypopigmentation, Hypomelanotic m... |
ORPHA:79397 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Lack of skin elasticity, A... |
ORPHA:1366 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
| Necrobiosis Lipoidica |
|
Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atrophic scars, Annular cutaneous lesion, Sk... |
ORPHA:542592 |
| Congenital Atransferrinemia |
|
Abnormality of the pancreas, Anemia |
ORPHA:1195 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
| Familial Keratoacanthoma |
|
Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer |
ORPHA:493 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Plantar hyperkeratosis, Nail dystrophy |
OMIM:616487 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Generalized hirsutism, Skin ulcer |
ORPHA:2218 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
| Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
| Glutathione Peroxidase Deficiency |
|
Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
| Acrogeria |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Fine hair, Excessive wrinkled skin, Thin skin |
ORPHA:2500 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia |
ORPHA:346 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni... |
ORPHA:1008 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Dry skin, Palmoplantar keratoderma, Nai... |
ORPHA:2890 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Hyperkeratosis, Palmoplantar keratoderma, Skin ulcer |
ORPHA:312 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
| Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
| Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Erythrokeratodermia Variabilis |
|
Macule, Alopecia, Hypermelanotic macule, Abnormal hair morphology, Erythema, Patchy palmoplantar ... |
ORPHA:317 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
| Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura |
ORPHA:743 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Dracunculiasis |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:231 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
| Chilblain Lupus |
|
Hyperkeratosis, Erythematous papule, Skin ulcer |
ORPHA:90280 |
| Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Skin-colored papule, Skin nodule, Skin ulcer, Trichoepithelioma, Cylindr... |
ORPHA:79493 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Honeycomb palmop... |
ORPHA:79395 |
| Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Papule, Abnormality of the nail, Aplasia/H... |
ORPHA:129 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Hypopigmented skin patches, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair... |
ORPHA:2251 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ... |
ORPHA:978 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... |
OMIM:617021 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar keratoderma, Skin fi... |
ORPHA:659 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:230450 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
| Prolidase Deficiency |
|
Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Erythema, Low anterior hairline, ... |
ORPHA:742 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer |
ORPHA:139578 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sparse hair,... |
OMIM:607903 |
| Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia |
ORPHA:2574 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Patchy alopecia, Skin erosion, Skin plaque, Papule |
OMIM:247100 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Ascites, Anemia |
ORPHA:295 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
| Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Hypermelanotic macule, Dry skin, Palmoplantar keratoderma, Hypomelanotic macule, Nail d... |
OMIM:618373 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
| Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp, Dermal atrophy |
OMIM:136300 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
| Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Atransferrinemia |
|
Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
| Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Abnormal toenail morphology, Abn... |
ORPHA:494 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis |
OMIM:247800 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Abnormality of... |
ORPHA:90368 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Hyperglycemia, Abnormal urine carbohydrate level |
ORPHA:2056 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis |
ORPHA:33574 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... |
OMIM:300918 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Pyoderma gangrenosum |
OMIM:616576 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... |
OMIM:129500 |
| Kerion Celsi |
|
Alopecia |
ORPHA:499 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Flynn-Aird Syndrome |
|
Alopecia, Dermal atrophy, Skin ulcer |
ORPHA:2047 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Scaling ski... |
ORPHA:2269 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails... |
ORPHA:1882 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... |
OMIM:619208 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia |
OMIM:229100 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:1806 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:231900 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Limited Cutaneous Systemic Sclerosis |
|
Hypopigmented skin patches, Skin ulcer |
ORPHA:220402 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Pachyonychia Congenita |
|
Alopecia, Epidermoid cyst, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyper... |
ORPHA:2309 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dyst... |
ORPHA:1657 |
| Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Nail dystrophy, ... |
ORPHA:100976 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Palmopla... |
OMIM:612843 |
| Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
| Pyoderma Gangrenosum |
|
Skin vesicle, Atrophic scars, Papule, Skin ulcer |
ORPHA:48104 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar... |
OMIM:604536 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Skin vesi... |
OMIM:613102 |
| Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
| Ollier Disease |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:296 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, A... |
ORPHA:251393 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Chronic Mucocutaneous Candidiasis |
|
Abnormal fingernail morphology, Erythema, Broad nail, Skin ulcer, Hyperkeratosis, Abnormal toenai... |
ORPHA:1334 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Erythematous plaque, Erythematous papule, Skin ulcer |
ORPHA:86884 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
| Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant... |
OMIM:605676 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Orthok... |
OMIM:614594 |
| Familial Multiple Nevi Flammei |
|
Nevus flammeus, Skin ulcer, Hypermelanotic macule, Papule |
ORPHA:624 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:618107 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Aplasia/Hypoplasia of the skin, Hyperconvex fingernails, Dermal atrophy, Skin vesicle, ... |
ORPHA:257 |
| Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
| Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair |
ORPHA:2985 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
| Leishmaniasis |
|
Skin plaque, Skin ulcer, Pallor, Papule |
ORPHA:507 |
| Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
| Reticular Dysgenesis |
|
Skin ulcer |
ORPHA:33355 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Aplasia cutis congenita, Acantholysis, Absent fingernail, Skin erosion, Anonych... |
OMIM:609638 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestasis, Abnormal... |
ORPHA:79303 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Erythema, Skin ulcer, Ridged fing... |
ORPHA:37 |
| Oliver-Mcfarlane Syndrome |
|
Sparse hair, Alopecia, Long eyelashes, Long eyebrows |
OMIM:275400 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia |
OMIM:614514 |
| Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
| Polyarteritis Nodosa |
|
Erythema, Subcutaneous nodule, Skin ulcer |
ORPHA:767 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:620296 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... |
OMIM:259720 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
| Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer, Nail dystrophy, Recurrent loss of toenails and fingernails |
OMIM:245660 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
| Meige Disease |
|
Skin ulcer, Atypical scarring of skin, Skin dimple, Cobblestone-like hyperkeratosis, Skin erosion |
ORPHA:90186 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia |
ORPHA:28 |
| Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
| Infantile Myofibromatosis |
|
Abnormal hair morphology, Subcutaneous nodule, Skin ulcer |
ORPHA:2591 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia, Jaundice |
OMIM:301015 |
| Oslam Syndrome |
|
Anemia |
OMIM:165660 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
| Lesch-Nyhan Syndrome |
|
Anemia |
ORPHA:510 |
| Familial Benign Chronic Pemphigus |
|
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion |
ORPHA:2841 |
| Transcobalamin Deficiency |
|
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... |
ORPHA:859 |
| Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Onycholysis |
OMIM:176100 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
| Acute Radiation Syndrome |
|
Hyperkeratosis, Dermal atrophy, Scaling skin, Skin ulcer |
ORPHA:454831 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Skin ulcer |
ORPHA:217390 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Subcutaneous nodule |
ORPHA:337 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Anemia |
ORPHA:1046 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Hypopigmented skin patches, Skin ulcer |
ORPHA:47 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Palmoplantar keratoderma, Sparse hair, Dr... |
OMIM:618535 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:618116 |
| Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:242300 |
| Centrifugal Lipodystrophy |
|
Alopecia, Erythema, Scaling skin |
ORPHA:90156 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
| Acquired Purpura Fulminans |
|
Macule, Erythematous macule, Pyoderma gangrenosum, Macular purpura |
ORPHA:49566 |
| Werner Syndrome |
|
Sparse scalp hair, Aplasia/Hypoplasia of the skin, Abnormal hair whorl, Lack of skin elasticity, ... |
ORPHA:902 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
| Prolidase Deficiency |
|
Petechiae, Skin ulcer, Facial hirsutism, Low posterior hairline |
OMIM:170100 |
| Senior-Loken Syndrome 4 |
|
Anemia |
OMIM:606996 |
| Isolated Agammaglobulinemia |
|
Skin ulcer |
ORPHA:229717 |
| Hemochromatosis, Type 3 |
|
Lymphopenia, Cirrhosis, Anemia, Neutropenia |
OMIM:604250 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Abnormal hair morphology, Paronychia, Skin ulcer, Skin vesicle, Dystrophic fingernails, Papule |
ORPHA:2314 |
| Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c |
OMIM:618858 |
| Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
ORPHA:88 |
| Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... |
OMIM:601775 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Anemia |
ORPHA:79402 |
| Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
| Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Abnormal hair morphology, Erythema, Hyperkeratosis, Palmoplantar keratoderma... |
OMIM:242100 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia |
ORPHA:858 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Cirrhosis, Anemia, Hepatosplenomegaly |
ORPHA:101028 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
| Free Sialic Acid Storage Disease |
|
Skin ulcer |
ORPHA:834 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
| Tempi Syndrome |
|
Ascites, Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79238 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Thrombocytopenia, Ascites, Anemia |
ORPHA:2123 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Alopecia, Long eyelashes |
ORPHA:3363 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
| Dyskeratosis Congenita |
|
Macule, Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernai... |
ORPHA:1775 |
| Takayasu Arteritis |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:3287 |
| Papa Syndrome |
|
Skin ulcer |
ORPHA:69126 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pyoderma gangrenosum |
OMIM:604416 |
| Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, T... |
OMIM:607823 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Calciphylaxis |
|
Skin ulcer |
ORPHA:280062 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Dry skin, Sparse body hair |
ORPHA:177 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... |
OMIM:300853 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes |
OMIM:610582 |
| Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis |
OMIM:268150 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... |
ORPHA:158057 |
| Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
| Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... |
OMIM:301082 |
| Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:230350 |
| Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
| Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia |
ORPHA:108 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:619151 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Orthokeratosis, Sparse hai... |
OMIM:607626 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis |
OMIM:300635 |
| Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Macrocytic anemia, Hepatic steatosis, Anemia |
OMIM:615438 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia |
ORPHA:2668 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610333 |
| Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Erythem... |
ORPHA:464 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Dermal atrophy, Sparse body hair |
ORPHA:69735 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Excessive wrinkled skin,... |
ORPHA:3051 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis |
OMIM:620010 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... |
OMIM:618935 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:606069 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Focal Segmental Glomerulosclerosis 1 |
|
Ascites, Anemia |
OMIM:603278 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Cardiomegaly |
OMIM:620135 |
| Cryoglobulinemic Vasculitis |
|
Petechiae, Skin ulcer, Purpura |
ORPHA:91138 |
| Copper Deficiency, Familial Benign |
|
Anemia |
OMIM:121270 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:606176 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
| Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellularity, Cirrhosi... |
OMIM:614742 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, El... |
ORPHA:300298 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... |
ORPHA:98850 |
| Gaucher Disease, Type Iii |
|
Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia |
OMIM:613092 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
| Leprosy |
|
Urticarial plaque, Absent eyebrow, Alopecia, Hypopigmented macule, Skin nodule, Loss of eyelashes... |
ORPHA:548 |
| Sézary Syndrome |
|
Alopecia, Dry skin, Nail dystrophy, Palmoplantar keratoderma |
ORPHA:3162 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia |
OMIM:616050 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
| Coach Syndrome 3 |
|
Portal fibrosis, Anemia |
OMIM:619113 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
| Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... |
ORPHA:158061 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Neonatal Lupus Erythematosus |
|
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Ch... |
ORPHA:398124 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... |
ORPHA:79301 |
| Familial Benign Copper Deficiency |
|
Anemia |
ORPHA:1551 |
| Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis |
ORPHA:172 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
| Hemochromatosis, Type 5 |
|
Anemia, Elevated hepatic iron concentration |
OMIM:615517 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... |
ORPHA:39041 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Hereditary Acrokeratotic Poikiloderma |
|
Erythema, Hypopigmented skin patches, Skin ulcer, Palmoplantar hyperkeratosis, Dystrophic toenail... |
ORPHA:2907 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum |
OMIM:608068 |
| Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:266120 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
| Hypomelanosis Of Ito |
|
Macular hypopigmented whorls, streaks, and patches, Alopecia |
OMIM:300337 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
| Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Cutis laxa |
OMIM:309400 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Nail dystrophy, Atrichia |
ORPHA:1867 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epidermal hyperkeratosis, Absent e... |
OMIM:137940 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... |
OMIM:257200 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p... |
OMIM:304790 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis, Dry skin |
OMIM:610768 |
| Chronic Granulomatous Disease |
|
Macule, Hypermelanotic macule, Skin ulcer |
ORPHA:379 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia |
OMIM:105600 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Preauricular pit, Alopecia, Hyperpigmented papule |
ORPHA:88630 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P... |
OMIM:129400 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia |
ORPHA:290 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Supernumerary nipple, Erythema, Nail pits, Fine hair, Hyperkeratosis, Coar... |
OMIM:308300 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... |
ORPHA:2930 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... |
ORPHA:83469 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Sparse eyebrow, Alopecia, Sparse eyelashes, Nail dysplasia |
OMIM:615704 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia |
ORPHA:3405 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia |
OMIM:153670 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis |
OMIM:619868 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration |
OMIM:162400 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Paronychia, Acral ulceration |
OMIM:201300 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
| Essential Thrombocythemia |
|
Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia |
OMIM:618165 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... |
OMIM:278000 |
| Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Cholestasis |
OMIM:105200 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Renal tubular dysfunction, Enuresis, Glycosuria, Nep... |
ORPHA:69076 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia, Focal dermal aplasia/hypoplasia |
OMIM:164180 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
| Congenital Ichthyosiform Erythroderma |
|
Alopecia, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:79394 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... |
OMIM:616828 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia |
OMIM:619046 |
| Reynolds Syndrome |
|
Skin ulcer |
ORPHA:779 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Juvenile Dermatomyositis |
|
Alopecia, Dry skin, Erythema, Skin ulcer |
ORPHA:93672 |
| Livedoid Vasculopathy |
|
Skin ulcer, Atrophic scars, Macular purpura, Ecchymosis, Erythematous papule |
ORPHA:542643 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Leukopenia, Lymphopenia, Hepatomegaly |
OMIM:620210 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
| Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic ketoaci... |
OMIM:262190 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
| Microscopic Polyangiitis |
|
Erythema, Subcutaneous nodule, Skin ulcer |
ORPHA:727 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Felty Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Neutr... |
ORPHA:47612 |
| Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
| Giant Cell Arteritis |
|
Alopecia, Skin ulcer |
ORPHA:397 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
| Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:42642 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Thrombocytopenia, Lymphopenia, Portal hypertension |
OMIM:620365 |
| Intermediate Osteopetrosis |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
| Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia |
ORPHA:397596 |
| Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis |
ORPHA:75234 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Hypopigmented skin patches |
ORPHA:3143 |
| Wilson Disease |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Cirrhosis, Acute hepatitis, He... |
ORPHA:905 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Acral ulceration, Nail dystrophy, Nail dysplasia |
OMIM:256800 |
| Relapsing Fever |
|
Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... |
OMIM:611881 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Persistence of hemoglobin F... |
OMIM:260400 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... |
OMIM:619644 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni... |
OMIM:214500 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Melanocytic nevus |
OMIM:612079 |
| Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Skin ulcer |
ORPHA:220393 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
| Infantile Systemic Hyalinosis |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:2176 |
| Chime Syndrome |
|
Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:3474 |
| Corticosteroid-Binding Globulin Deficiency |
|
Anemia |
OMIM:611489 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Hepatosplenom... |
OMIM:606003 |
| Eosinophilic Gastroenteritis |
|
Leukocytosis, Ascites, Eosinophilia, Anemia |
ORPHA:2070 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyuria |
OMIM:222100 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
| Immunodeficiency 54 |
|
Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:609981 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... |
ORPHA:158048 |
| Fusariosis |
|
Paronychia, Subcutaneous nodule, Skin ulcer, Skin detachment, Papule |
ORPHA:228119 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia |
ORPHA:85212 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
| Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia |
ORPHA:90033 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
| Toxic Epidermal Necrolysis |
|
Macule, Erythema, Skin ulcer, Acantholysis |
ORPHA:537 |
| Hereditary Orotic Aciduria |
|
Splenomegaly, Anemia |
ORPHA:30 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids |
OMIM:619769 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pyoderma gangrenosum |
ORPHA:486 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic toenail, Nail... |
ORPHA:3253 |
| Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B... |
ORPHA:829 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
| Aceruloplasminemia |
|
Anemia |
OMIM:604290 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
| Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal hair morphology, Abnor... |
ORPHA:79474 |
| Adams-Oliver Syndrome 2 |
|
Aplasia cutis congenita, Alopecia, Low anterior hairline, Small nail |
OMIM:614219 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Subcutaneous nodule, Leukony... |
ORPHA:2526 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Multiple cafe-au-lait spots, Sparse hair |
ORPHA:2316 |
| Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
| Mandibulofacial Dysostosis With Alopecia |
|
Preauricular pit, Preauricular skin tag, Alopecia, Sparse eyelashes |
OMIM:616367 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
| Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Cirrhosis,... |
ORPHA:77259 |
| Systemic Sclerosis |
|
Alopecia, Nail bed telangiectasia, Cutaneous sclerotic plaque, Digital pitting scar, Spotty hypop... |
ORPHA:90291 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thrombocytopenia, Thymoma, Aplasia/Hy... |
ORPHA:169105 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia |
OMIM:616084 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... |
OMIM:615512 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
| Dermatomyositis |
|
Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Erythema, Skin ulcer, Dry skin, Abnormali... |
ORPHA:221 |
| Farber Lipogranulomatosis |
|
Splenomegaly, Hepatomegaly, Lipogranulomatosis |
OMIM:228000 |
| Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
| Malakoplakia |
|
Subcutaneous nodule, Skin ulcer, Papule |
ORPHA:556 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria |
OMIM:618857 |
| Sweet Syndrome |
|
Skin nodule, Pyoderma gangrenosum, Erythematous plaque, Skin vesicle, Erythematous papule |
ORPHA:3243 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cholestatic liver disease, Hemopha... |
ORPHA:540 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
| Catastrophic Antiphospholipid Syndrome |
|
Skin ulcer |
ORPHA:464343 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Bazex Syndrome |
|
Anemia |
ORPHA:166113 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Dry skin |
OMIM:618282 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Acral ulceration |
OMIM:256840 |
| Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly |
OMIM:306000 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... |
ORPHA:2330 |
| Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Thin eyebrow |
ORPHA:3242 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
| Oculocerebrocutaneous Syndrome |
|
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Hypopigmente... |
ORPHA:1647 |
| Nephronophthisis 4 |
|
Anemia |
OMIM:606966 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Lack of skin elasticity, Breast aplasia,... |
ORPHA:90153 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis |
ORPHA:2886 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Hypereosinophilia |
OMIM:617388 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
| Majeed Syndrome |
|
Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic a... |
ORPHA:77297 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia |
OMIM:215100 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Anemia |
OMIM:620366 |
| Hajdu-Cheney Syndrome |
|
Abnormal fingernail morphology, Synophrys, Low anterior hairline, Skin ulcer, Coarse hair, Dry sk... |
ORPHA:955 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro... |
OMIM:267700 |
| Immunoglobulin A Vasculitis |
|
Macule, Erythema, Skin ulcer, Purpura |
ORPHA:761 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Thrombocytopenia, Leukocytosis, Hepatitis, Cholest... |
ORPHA:292 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Intestinal lymphangiectasia, Ascites, Anemia |
OMIM:226300 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Brittle hair, Nail dystrophy |
ORPHA:75389 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphad... |
OMIM:603553 |
| Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe... |
OMIM:617052 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sparse hair, Alopecia, Palmoplantar keratoderma, Fragile nails |
OMIM:242150 |
| Keutel Syndrome |
|
Alopecia, Dermal atrophy |
ORPHA:85202 |
| Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Poliosis |
OMIM:141300 |
| Leukocyte Adhesion Deficiency, Type I |
|
Skin ulcer |
OMIM:116920 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Acral ulceration |
OMIM:608654 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia |
OMIM:618840 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:259700 |
| Kury-Isidor Syndrome |
|
Sacral dimple, Alopecia, Hypertrichosis |
OMIM:619762 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches |
ORPHA:3453 |
| Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
| Fanconi Anemia, Complementation Group R |
|
Bone marrow hypocellularity, Anemia |
OMIM:617244 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin |
OMIM:613990 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Developmental And Epileptic Encephalopathy 50 |
|
Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis |
OMIM:616457 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Atrophic scars, Nail dystrophy, Nail dysplasia, Milia |
OMIM:226600 |
| Mcleod Syndrome |
|
Splenomegaly, Hepatomegaly, Acanthocytosis |
OMIM:300842 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Aplasia cutis congenita on trunk or limbs, Alopecia, Erythema, Atrophic scars, Palmoplantar kerat... |
ORPHA:79396 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Nail dystrophy |
OMIM:616353 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis |
OMIM:608885 |
| Parkes Weber Syndrome |
|
Erythematous plaque, Capillary malformation, Scaling skin, Skin ulcer |
ORPHA:90307 |
| Cushing Disease |
|
Sparse scalp hair, Striae distensae, Skin ulcer, Thin skin, Ecchymosis, Hirsutism, Purpura |
ORPHA:96253 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Follicular hyperkeratosis, Sparse hair, Ch... |
OMIM:158310 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ... |
ORPHA:464329 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Cholangitis |
OMIM:614204 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Macs Syndrome |
|
Alopecia, Redundant skin, Sparse eyebrow, Cutis laxa, Sparse hair |
OMIM:613075 |
| Castleman Disease |
|
Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,... |
ORPHA:160 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Sacral dimple, Hypoplastic toenail... |
ORPHA:544488 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis |
OMIM:235555 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypoglycemia, Proteinuria, Stage 5 chronic kidney disease, Nephrotic... |
OMIM:617575 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal toenail morphology, Hyperkeratosis |
ORPHA:1005 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Linear nevus sebaceous, Alopecia, Nevus sebaceous, Nevus |
OMIM:163200 |
| Pgm3-Cdg |
|
Skin ulcer |
ORPHA:443811 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
| Adams-Oliver Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Absent fingernail, Sparse... |
ORPHA:974 |
| Blau Syndrome |
|
Intermittent generalized erythematous papular rash, Skin ulcer |
OMIM:186580 |
| Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
| Granulomatosis With Polyangiitis |
|
Skin ulcer |
OMIM:608710 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Prolonged neonatal jaundice |
ORPHA:423479 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestasis, Lymphadenopathy, Hepatic fi... |
OMIM:615895 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Sandifer Syndrome |
|
Anemia |
ORPHA:71272 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow |
OMIM:261990 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemia |
ORPHA:329971 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... |
OMIM:612541 |
| Xeroderma Pigmentosum |
|
Macule, Alopecia, Hypermelanotic macule, Erythema, Hypopigmented skin patches, Melanocytic nevus,... |
ORPHA:910 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
| Short Syndrome |
|
Sparse hair, Excessive wrinkled skin, Alopecia |
ORPHA:3163 |
| Adenocarcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424016 |
| Immunodeficiency 22 |
|
Abscess, Anemia, Decreased proportion of CD4-positive helper T cells, Ascites, Thrombocytopenia |
OMIM:615758 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:85414 |
| Amoebiasis Due To Free-Living Amoebae |
|
Subcutaneous nodule, Skin ulcer, Papule |
ORPHA:68 |
| Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... |
ORPHA:31150 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia |
OMIM:152800 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy |
OMIM:617099 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Multiple cafe-au-lait spots, Patchy alopecia |
ORPHA:85279 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
| Nephronophthisis 1 |
|
Anemia |
OMIM:256100 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... |
ORPHA:1572 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Urticarial plaque, Skin ulcer, Purpura |
OMIM:615688 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Parakeratosis, Epidermal nevus, Erythema, Hyperkeratosis, Small nail, Nevus, Orthokerat... |
OMIM:308050 |
| Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... |
ORPHA:158687 |
| Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... |
OMIM:257220 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Abnormal hair morphology, Dermal atrophy, Nail dystrophy, Thin skin |
ORPHA:90154 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... |
OMIM:607765 |
| Hyperparathyroidism, Neonatal Severe |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:239200 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Small nail, Cafe-au-lait spot |
ORPHA:166035 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Hepatomegaly, Neutrophilia, Abscess |
OMIM:612852 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Dermal atrophy, Spar... |
OMIM:127550 |
| Chronic Graft Versus Host Disease |
|
Alopecia, Erythema, Intermittent generalized erythematous papular rash, Skin ulcer, Onycholysis, ... |
ORPHA:99921 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level |
OMIM:619767 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
| Monosomy 18P |
|
Alopecia, Low posterior hairline |
ORPHA:1598 |
| Gapo Syndrome |
|
Skin tags, Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patches |
ORPHA:2067 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Proteinuria, Enlarged polycystic ovaries, Insulin resistance, Fasting hyperinsu... |
ORPHA:2298 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulo... |
OMIM:557000 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Penetrating foot ulcers |
ORPHA:99956 |
| Mandibuloacral Dysplasia |
|
Sparse hair, Alopecia, Thin skin, Hypoplastic fingernail |
ORPHA:2457 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Epidermoid cyst, Redundant skin, Sparse eyebrow, Hypoplastic nipples,... |
OMIM:230740 |
| Nephronophthisis 11 |
|
Hepatic fibrosis, Anemia |
OMIM:613550 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair, Dermal atrophy |
OMIM:608612 |
| Gaucher Disease, Type Ii |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:230900 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
| Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
| Malt Lymphoma |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Abnormally low T cell receptor ... |
ORPHA:276 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Jaundice, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:90051 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Splenomegaly, Hepatosplenomegaly, Enlarged platelet... |
OMIM:608233 |
| Chanarin-Dorfman Syndrome |
|
Alopecia |
OMIM:275630 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adenoma, Cholestasi... |
ORPHA:264580 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Leukopenia, Hepatic... |
OMIM:300972 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Hirsutism |
OMIM:615830 |
| Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Atypical scarring of skin, Sparse scalp hair, Skin ulcer, Fine hair |
ORPHA:534 |
| Focal Dermal Hypoplasia |
|
Macule, Alopecia, Aplasia/Hypoplasia of the skin, Skin nodule, Subcutaneous nodule, Erythema, Thi... |
ORPHA:2092 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
| Arteriosclerosis, Severe Juvenile |
|
Anemia |
OMIM:208060 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
| Wiskott-Aldrich Syndrome |
|
Petechiae, Skin ulcer, Purpura |
ORPHA:906 |
| Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy, Leuko... |
ORPHA:809 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia |
OMIM:601853 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased u... |
ORPHA:760 |
| Bresek Syndrome |
|
Alopecia |
ORPHA:85284 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Palmoplantar keratoderma, Scaling skin, Follicular hyperkeratosis, Nail dystrophy, Sparse hair, A... |
ORPHA:158668 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... |
OMIM:251880 |
| Granulomatosis With Polyangiitis |
|
Skin ulcer, Papule, Purpura |
ORPHA:900 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis |
OMIM:618641 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Palm... |
OMIM:106260 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly |
ORPHA:71493 |
| Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, Lymphopenia, Anemia |
ORPHA:935 |
| Simple Cryoglobulinemia |
|
Localized skin lesion, Acral ulceration, Purpura |
ORPHA:91139 |
| Ane Syndrome |
|
Hyperpigmented nevi, Alopecia |
ORPHA:157954 |
| Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
| Senior-Loken Syndrome 1 |
|
Anemia |
OMIM:266900 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Dry skin, Abnormal fingernail morphology, Abnormality of the nail |
ORPHA:428 |
| Lymphatic Malformation 7 |
|
Ascites, Anemia |
OMIM:617300 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr... |
OMIM:619418 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Patchy alopecia, Scaling skin, Alopecia universalis |
OMIM:606367 |
| Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Dry skin |
OMIM:614008 |
| Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... |
OMIM:607625 |
| Gaucher Disease, Type Iiic |
|
Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly |
OMIM:231005 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
| Primary Sjögren Syndrome |
|
Dry skin, Lichenoid skin lesion, Skin ulcer, Purpura |
ORPHA:289390 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Nevus, Sparse hair |
OMIM:613451 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:612301 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
ORPHA:79242 |
| Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia |
ORPHA:412057 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Trichiasis, Acantholysis, Skin ulcer, Atypical scarring of skin, Nail dystrophy, Anonychia |
ORPHA:95455 |
| Carney Triad |
|
Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy |
ORPHA:139411 |
| Hemochromatosis, Type 1 |
|
Alopecia |
OMIM:235200 |
| Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... |
ORPHA:69085 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Premature skin wrinklin... |
ORPHA:363618 |
| Blau Syndrome |
|
Erythema, Dry skin, Skin ulcer, Papule |
ORPHA:90340 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
| Q Fever |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Lymphadenopathy, Abn... |
ORPHA:781 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Neutrophilia |
ORPHA:36238 |
| Localized Scleroderma |
|
Abnormal skin adnexa morphology, Cutaneous sclerotic plaque, Localized skin lesion, Erythema, Hyp... |
ORPHA:90289 |
| Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis |
ORPHA:3130 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hyperpigmented nevi, Alopecia, Low posterior hairline |
ORPHA:2959 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thrombocytopenia |
OMIM:222700 |
| Rothmund-Thomson Syndrome |
|
Plantar hyperkeratosis, Aplasia/Hypoplasia of the skin, Sparse eyelashes, Alopecia totalis, Spars... |
ORPHA:2909 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Hirsutism, Striae distensae |
ORPHA:189427 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Dermal atrophy, Sparse h... |
ORPHA:2108 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Splenomega... |
ORPHA:50918 |
| Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophilia, Thrombocytopenia, Leukocyto... |
ORPHA:3260 |
| Distal Deletion 19P |
|
Keloids, Alopecia, Thick eyebrow |
ORPHA:96129 |
| Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
| Adrenoleukodystrophy |
|
Alopecia |
OMIM:300100 |
| Mirage Syndrome |
|
Hypoglycemia, Hypospadias, Thrombocytopenia, Leukopenia, Microphallus, Hypoplastic spleen, Lympho... |
OMIM:617053 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Ecchymosis, Skin ulcer |
ORPHA:2072 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Perianal erythema, Absent ... |
OMIM:308205 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Nail dystrophy, Alopecia universalis |
OMIM:240300 |
| Bartsocas-Papas Syndrome 1 |
|
Skin tags, Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Dry s... |
OMIM:263650 |
| Multiple Myeloma |
|
Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:29073 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Sacral dimple, Alopecia, Widened atrophic scar, Redundant skin, Piezogenic pedal papules |
ORPHA:536532 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Sparse scalp hair, Striae distensae, Skin ulcer, Thin skin, Ecchymosis, Hirsutism, Purpura |
ORPHA:99889 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Nevus psiloliparus |
OMIM:613001 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:77261 |
| Juvenile Polyposis Syndrome |
|
Anemia |
OMIM:174900 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Cholelithiasis, Thrombocytopenia |
OMIM:263700 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis |
OMIM:249100 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
| Rothmund-Thomson Syndrome Type 2 |
|
Plantar hyperkeratosis, Alopecia totalis, Erythema, Facial erythema, Sparse or absent eyelashes, ... |
ORPHA:221016 |
| Rothmund-Thomson Syndrome Type 1 |
|
Plantar hyperkeratosis, Alopecia totalis, Facial erythema, Sparse or absent eyelashes, Dermal atr... |
ORPHA:221008 |
| Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Lip pit, Coarse hair, Sparse hair, Dry skin, Milia |
ORPHA:2750 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia |
ORPHA:453533 |
| Mogs-Cdg |
|
Alopecia, Fair hair, Long eyelashes, Hirsutism |
ORPHA:79330 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Hepatocellular carcinoma, Pancreati... |
OMIM:232220 |
| Tyrosinemia, Type I |
|
Hepatomegaly, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocellular carcinom... |
OMIM:276700 |
| Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal hair pattern |
ORPHA:2315 |
| Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Alopecia totalis |
OMIM:615577 |
| Plague |
|
Localized skin lesion, Dry skin, Skin ulcer |
ORPHA:707 |
| Split Cord Malformation |
|
Tufted hairs, Skin dimple, Penetrating foot ulcers, Hypertrichosis |
ORPHA:573278 |
| Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Nail dystrophy |
OMIM:620040 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Microcytic anemia, Leukocytosis, Anemia |
ORPHA:99843 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Alopecia, Dermal atrophy, Onychogryposis |
OMIM:248370 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia |
ORPHA:93160 |
| Phakomatosis Pigmentokeratotica |
|
Melanocytic nevus, Linear nevus sebaceous, Patchy alopecia, Blue nevus, Nevus spilus |
ORPHA:2874 |
| Leigh Syndrome |
|
Alopecia, Frontal hirsutism, Hypertrichosis |
ORPHA:506 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia |
ORPHA:508542 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,... |
ORPHA:2273 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Abnormal eyelash morphology, Subcutaneous nodule, Xanthomatosis, Nevus flammeus |
ORPHA:2396 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... |
ORPHA:567983 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acral ulceration |
OMIM:256810 |
| Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
| Pediatric Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:93552 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Functional abnormality of the bladder, ... |
ORPHA:391487 |
| Alstrom Syndrome |
|
Alopecia |
OMIM:203800 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia |
OMIM:253270 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
| Linear Nevus Sebaceus Syndrome |
|
Alopecia, Melanocytic nevus |
ORPHA:2612 |
| H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Hypertrichosis |
ORPHA:168569 |
| Sympathetic Ophthalmia |
|
Alopecia, Erythema, Poliosis |
ORPHA:79098 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Alopecia universalis |
OMIM:277440 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Nail dystrophy, Alopecia, Abnormality of the periungual region, Alopecia totalis |
ORPHA:293978 |
| Behcet Syndrome |
|
Erythema, Patchy alopecia |
OMIM:109650 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia |
OMIM:212750 |
| Relapsing Polychondritis |
|
Macule, Alopecia, Erythema, Purpura |
ORPHA:728 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia |
OMIM:210210 |
| Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair, Milia |
OMIM:311200 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Hirsutism |
ORPHA:90795 |
| Biotinidase Deficiency |
|
Alopecia |
OMIM:253260 |
| Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Alopecia, Long eyelashes, Fingernail dysplasia, Nevus flammeus |
ORPHA:1507 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Skin erosion, Paronychia, Skin plaque, Nail dystrophy, Aplasia cutis congenita, Anonych... |
ORPHA:79404 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Alopecia, Numerous nevi, Hyperkeratosis, Cafe-au-lait spot, Fair hair |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Alopecia, Numerous nevi, Hyperkeratosis, Cafe-au-lait spot, Fair hair |
ORPHA:363958 |
| Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Premature graying of hai... |
OMIM:305000 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:264090 |
| Autosomal Dominant Robinow Syndrome |
|
Alopecia, Sacral dimple, Curly eyelashes, Naevus flammeus of the eyelid, Long eyelashes, Fingerna... |
ORPHA:3107 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia |
ORPHA:98907 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... |
OMIM:181270 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Anemia |
OMIM:175050 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis |
OMIM:618775 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Nail dystrophy |
ORPHA:37042 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
| Adams-Oliver Syndrome 1 |
|
Aplasia cutis congenita on trunk or limbs, Alopecia, Supernumerary nipple, Aplasia cutis congenit... |
OMIM:100300 |
| Biotinidase Deficiency |
|
Alopecia |
ORPHA:79241 |
| Colchicine Poisoning |
|
Alopecia |
ORPHA:31824 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia |
OMIM:269200 |
| Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Alopecia totalis, Hypermelanotic macule, Loss of eyelashes, Lack of skin elastici... |
ORPHA:740 |
| Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Splenomegaly, Leukocytosis, Jaundic... |
ORPHA:99827 |
| Leukocyte Adhesion Deficiency |
|
Pyoderma gangrenosum, Nail dystrophy |
ORPHA:2968 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena... |
ORPHA:99228 |
| Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena... |
ORPHA:99226 |
| Turner Syndrome |
|
Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena... |
ORPHA:881 |
| Vascular Ehlers-Danlos Syndrome |
|
Macule, Alopecia, Redundant skin, Abnormality of hair texture, Abnormal eyelash morphology, Subcu... |
ORPHA:286 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia |
ORPHA:227990 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia |
ORPHA:227982 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow |
ORPHA:2636 |
| Ring Chromosome 13 Syndrome |
|
Alopecia, Cafe-au-lait spot |
ORPHA:96176 |
| Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Jaundice, Leukocytosis, Pancreatic hyperplasia, Thrombocytopenia |
ORPHA:99829 |
| Steinert Myotonic Dystrophy |
|
Early balding, Alopecia |
ORPHA:273 |
| Sarcoidosis |
|
Skin nodule, Alopecia, Subcutaneous nodule, Skin plaque |
ORPHA:797 |
| Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:536 |
| Viss Syndrome |
|
Sparse scalp hair, Alopecia, Hirsutism, Cutis laxa |
OMIM:619472 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia |
OMIM:619321 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Supernumerary nipple, Focal dermal aplasia/hypoplasia, Patchy alopecia... |
OMIM:305600 |
| African Trypanosomiasis |
|
Erythematous macule, Alopecia |
ORPHA:3385 |
| Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Sacral dimple, Sparse eyelashes, Supernumerary nipple, Sparse eyebro... |
OMIM:601803 |
| Gorlin Syndrome |
|
Palmar pits, Plantar pits, Melanocytic nevus |
ORPHA:377 |
| Basal Cell Carcinoma, Susceptibility To, 1 |
|
|
OMIM:605462 |
| Medulloblastoma |
|
|
OMIM:155255 |
