Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Pelger-Huet Anomaly |
|
Pes cavus, Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil ... |
OMIM:169400 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Failure to thrive, Ventricular septal defect, Microgn... |
OMIM:612561 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Reduced bone min... |
OMIM:617052 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Myh9-Related Disease |
|
Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Presenile cataracts... |
ORPHA:182050 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Rhizomelia, Failure to thrive in infancy, Broad femoral neck, Micrognathia, Giant pla... |
OMIM:611209 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Decreased skull ossification, Th... |
ORPHA:3319 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia |
OMIM:300946 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Macrocytic anemia, Pancytopenia, Osteoporosis, Abnormality of the liver, Increased me... |
ORPHA:2169 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... |
OMIM:613839 |
Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... |
OMIM:231200 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Short th... |
OMIM:612562 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Oslam Syndrome |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma... |
ORPHA:2760 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Sitosterolemia 1 |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Corneal arcus, Stomatocytosis, ... |
OMIM:210250 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas... |
ORPHA:811 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutrope... |
ORPHA:124 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscul... |
OMIM:185000 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatosplenomegaly, Decr... |
OMIM:609628 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, Micrognathia, Dil... |
ORPHA:261250 |
Lathosterolosis |
|
Cataract, Toe syndactyly, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, M... |
OMIM:607330 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Decreased mean corpuscu... |
OMIM:611590 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Dilated cardiomyopathy, Osteoporosi... |
ORPHA:231226 |
Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Overlapping toe, Increased mean platelet volume, Proximal placement of thumb, Ta... |
OMIM:616737 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract |
OMIM:619813 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphalangeal thumb, Neutropeni... |
OMIM:105650 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Di... |
ORPHA:231214 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inad... |
ORPHA:231222 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Syndromic Diarrhea |
|
Hepatomegaly, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Increased mean p... |
ORPHA:84064 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Bardet-Biedl Syndrome 18 |
|
Cataract, Retinal dystrophy, Obesity, Rod-cone dystrophy, Brachydactyly |
OMIM:615995 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Increased mean cor... |
OMIM:127550 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, ... |
OMIM:620076 |
Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata... |
ORPHA:356961 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Micromelia, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Ventricular septal defect, Small for gestational age, Increased ... |
OMIM:222470 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Wei... |
ORPHA:100024 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... |
ORPHA:86839 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Overlapping toe, Increased mean platelet volume, Proximal placement of thumb, Ta... |
ORPHA:487796 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Cataract, Small for gestational age, Reduced bone mineral density, Delayed ossif... |
OMIM:618392 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Short humerus, Short femur, Sandal gap, Rhizomelia, Small for gestational age... |
OMIM:607143 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Proximal femoral metaphyseal irregularity, Coxa ... |
ORPHA:168549 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Ventricular septal ... |
ORPHA:290 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Absenc... |
ORPHA:79106 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Anorexia, Splenomegaly, Leukocytosis, Enlarged mesenteric lymph n... |
OMIM:209950 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Ja... |
ORPHA:858 |
Shwachman-Diamond Syndrome 1 |
|
Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co... |
OMIM:260400 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... |
OMIM:616959 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Retinal detachment, Catarac... |
ORPHA:93296 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Castleman Disease |
|
Myelofibrosis, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal l... |
ORPHA:160 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor... |
OMIM:605274 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Coxa vara, Pedal edema, Double-layered patella, Abnormal hip joint morphology, Arthralgia of the ... |
ORPHA:166011 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacu... |
OMIM:256550 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Retinal detachment, Hypoplasia of the ulna, Cataract, Broad hallux, Talipes, Short metatarsal, Fl... |
ORPHA:1856 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Peripheral retinal avascularization, Micrognathia, Large for gestational age, Flexion contracture... |
ORPHA:96334 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenom... |
OMIM:615631 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anis... |
OMIM:618278 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Aggressive beh... |
ORPHA:208441 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Failure to thrive, Thrombocytop... |
OMIM:615085 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia |
OMIM:258865 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Bone spicule pigmentation of the retina, Cataract, Brachydactyly, Postaxial polydacty... |
OMIM:615986 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Absent thumb, Absent radius, Missing ribs, Micromelia, Humeroradial synostosis,... |
OMIM:251230 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, El... |
ORPHA:300298 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Celluli... |
OMIM:617718 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Failure to thrive, Decreased proportion of naive T cells, Jaundice, Lymph node hypo... |
ORPHA:276 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Microretrognathia, Rhizomelia, Postaxial polydactyly, Horizontal ribs, Squared iliac... |
OMIM:616300 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia... |
ORPHA:3035 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Optic disc pallor, Hepatomegaly, Splenomegaly, O... |
OMIM:611490 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Cataract, Retinal thinning, Coxa valga, Genu valgum, Asteroid hyalosis, Sho... |
OMIM:132450 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos... |
OMIM:612840 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Micrognathia, Rib fusion, Abnormal rib morphology, Coxa vara, Abnor... |
ORPHA:1988 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Lipodystrophy, Splenomegaly, Flexion contracture, Lymphadenopath... |
OMIM:617591 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoimmune thrombocytopeni... |
OMIM:613179 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Reduced bone mineral density, Leukopenia, ... |
OMIM:620210 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Tetralogy of Fallot, Ly... |
OMIM:618624 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis, Retinal dystrophy, Preaxial hand polydactyly, Pos... |
OMIM:263520 |
Metatropic Dysplasia |
|
Cataract, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Abnormal rib mor... |
ORPHA:2635 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Postaxial polydactyly, Micrognathia, Complete atrioventricular canal defect, ... |
OMIM:617925 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Osteomalacia,... |
ORPHA:198 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Thickened ribs, Cardiomegaly, Aggressive behavior, Splenomegaly, Asy... |
OMIM:252920 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Remnants of the hyaloid vascular system, Optic ner... |
OMIM:603671 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus, Cardiomegaly |
OMIM:620306 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Horizontal ribs, Metaphyseal wi... |
OMIM:613091 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, L... |
ORPHA:277 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Camurati-Engelmann Disease |
|
Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cort... |
ORPHA:1328 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Syndactyly, Small for gestational age, Anisocyto... |
OMIM:224120 |
Omodysplasia 1 |
|
Short humerus, Ventricular septal defect, Increased fibular diameter, Rhizomelia, Micrognathia, L... |
OMIM:258315 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Short metacarpal, Cataract, Short humerus, Thrombocytopenia, Reticu... |
ORPHA:508542 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Overweight, Persistence of hemoglobin F, Astigmatism, I... |
OMIM:619769 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Neutropenia, Clinodactyly, Decreased platelet glycoprotein Ib, Thrombocyto... |
OMIM:603585 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Kniest Dysplasia |
|
Retinal detachment, Inguinal hernia, Cataract, Hip contracture, Rhizomelia, Dumbbell-shaped long ... |
OMIM:156550 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Cataract, Megaloblastic anemia, Optic atrophy, Limited mobility of proximal... |
OMIM:222300 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Eisenmenger Syndrome |
|
Hepatomegaly, Brain abscess, Ventricular septal defect, Clubbing, Hypochromic microcytic anemia, ... |
ORPHA:97214 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Genu recurvatum, Lower limb asymmetry, Splenome... |
ORPHA:2969 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Micrognathia, Microcytic anemia, Short toe, Flexion contracture, Talipes equinovarus, Failure to ... |
ORPHA:98791 |
Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Depre... |
ORPHA:309288 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Megalocornea, Patent fo... |
OMIM:228520 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Central retinal vessel vascular tortu... |
ORPHA:2751 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Failure to thrive in infancy, Fluctua... |
OMIM:610377 |
Kniest Dysplasia |
|
Enlarged epiphyses, Rhegmatogenous retinal detachment, Abnormality of the epiphysis of the femora... |
ORPHA:485 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Prominent floating ribs, Pedal edema |
OMIM:152800 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Inguinal hernia, Cataract, Rhizomelia, Optic nerve hypoplasia, Failure... |
OMIM:222765 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... |
OMIM:618935 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Optic atrophy,... |
ORPHA:93400 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Otospondylomegaepiphyseal Dysplasia |
|
Retinal detachment, Abnormally ossified vertebrae, Cataract, Short metacarpal, Epiphyseal dysplas... |
ORPHA:1427 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Short metacarpal, Cataract, Splenomegaly, Abnormal foot morp... |
ORPHA:773 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Cataract, Failure to thrive in infancy, Microcytic anemia, Dilated cardiomyopathy, ... |
OMIM:618805 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Cataract, Micrognathia, Brushfi... |
OMIM:214110 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Corneal arcus, Joint contracture of the 5th finger, Atrial septal defect, Pancreati... |
OMIM:602782 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P... |
OMIM:612541 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality... |
ORPHA:56305 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Hemochromatosis, Type 3 |
|
Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Abno... |
ORPHA:93399 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Inguinal hernia, Cataract, Brachydactyly, Rhizomelia, Short iliac bones, Metaphysea... |
OMIM:614376 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Cataract, Corneal opacity, Talipes, Sclerocornea, Coxa valga, Metatarsus ... |
ORPHA:2557 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Cataract, Failure to thrive, Abnormal pulmonary valve morpholog... |
ORPHA:974 |
Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti... |
ORPHA:2686 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Coxa valga, M... |
OMIM:618150 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Cardiomegaly, Flexion contracture, Reduced bone mineral density, Retinal degeneratio... |
ORPHA:581 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal fear-induced... |
ORPHA:100924 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Short palm, Macrocytic anemia, Metaph... |
OMIM:250250 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili... |
ORPHA:3077 |
Ruijs-Aalfs Syndrome |
|
Pes planus, Cataract, Lipodystrophy, Down-sloping shoulders, Micrognathia, Posterior subcapsular ... |
OMIM:616200 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Broad hallux phalan... |
ORPHA:585 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Small for gestational age, Thrombocytopenia, Hypoplasia of the capital ... |
OMIM:242900 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Cholangitis, Micrognathia, Short metatarsal, Macular degeneration, Hepatic fibrosis, ... |
OMIM:266920 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Fibular hypoplasia, Lateral humeral condyle aplasia, Opacification of ... |
OMIM:164900 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Irritability, Lymphopenia, Abnormal repet... |
ORPHA:391307 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
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 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia |
ORPHA:621 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Anorexia, Hepatitis, Hepatosplenomegaly, Failure to thrive secondary to recurrent i... |
ORPHA:169160 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Ivory epiphyses, Pancytopenia, Pes planus, Sandal gap, Abnormal finger flexion ... |
OMIM:210600 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c... |
OMIM:616005 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Prolonged neonatal jaundice, Severe failu... |
ORPHA:423479 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... |
OMIM:227270 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Short phalanx of finger, Broad met... |
ORPHA:508533 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Arachnodactyly, Abnormality of neutrophils, Ocular albinism, Reduced bone mineral densi... |
ORPHA:2720 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, 11 pairs of ribs, Severe B lymphocytopenia, Cataract, Craniosynostosis, Portal ... |
OMIM:620005 |
Microphthalmia With Limb Anomalies |
|
Failure to thrive, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndacty... |
OMIM:206920 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Wide capital femoral epiphyses, Corneal opacity, Small for gestational age, Ab... |
ORPHA:1830 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti... |
ORPHA:486 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Legionnaires Disease |
|
Pericarditis, Anorexia, Splenomegaly, Myocarditis, Jaundice, Hepatitis, Endocarditis, Lymphadenop... |
ORPHA:549 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Micrognathia, Absent frontal sinuses, Opt... |
OMIM:224300 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Cor pulmonale, Lymph node hypoplasia, T lymphocy... |
OMIM:300755 |
Vici Syndrome |
|
Atrial septal defect, Failure to thrive, Cataract, Left ventricular hypertrophy, Macular atrophy,... |
OMIM:242840 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping, Micrognathia |
OMIM:617101 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Short palm, Synostosis of carpal bones, Increased bone minera... |
ORPHA:90652 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati... |
ORPHA:171844 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Dilated cardiomyopat... |
OMIM:615688 |
Mirage Syndrome |
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Rocker bottom foot, Radial club hand, Thrombocytopenia, Leukopenia, Talipes equinovarus, Decrease... |
OMIM:617053 |
Immunodeficiency 13 |
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Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Bardet-Biedl Syndrome 1 |
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Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Hepatic fibrosis, R... |
OMIM:209900 |
Exfoliation Syndrome |
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Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
Acro-Renal-Mandibular Syndrome |
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Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... |
ORPHA:958 |
Charge Syndrome |
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Micrognathia, Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Aplasia/Hypo... |
OMIM:214800 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Early ossification of capital femoral epiphyses, Hepatic fibrosis, Hypoplastic iliac wing, Short ... |
OMIM:208500 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Omphalocele, Ventricular septal defect, Micrognathia, Complete atrioventricular... |
OMIM:236680 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
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Clinodactyly of the 5th finger, Lymphopenia, Chorioretinal coloboma |
ORPHA:1116 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Transient neutropenia, Large for gestational age, Tibial bowing, Long hallux, Large hands, Astigm... |
ORPHA:500095 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Abnormal hemoglobin, Flexion contracture, Optic atrophy, Depression, Self-injurious behavior, Tal... |
ORPHA:847 |
Acromesomelic Dysplasia 3 |
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Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Lathosterolosis |
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Hepatomegaly, Cataract, Toe syndactyly, Talipes, Micrognathia, Intrahepatic cholestasis, Postaxia... |
ORPHA:46059 |
Khan-Khan-Katsanis Syndrome |
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Failure to thrive, Postaxial polydactyly, Peters anomaly, Micrognathia, Clinodactyly, Corneal sca... |
OMIM:618460 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Ventricular septal defect, Tapered finger, Coxa valga, Absent frontal sinuses, Abnormal repetitiv... |
OMIM:301040 |
Norrie Disease |
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Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... |
OMIM:310600 |
Lead Poisoning |
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Small for gestational age, Anorexia, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnor... |
ORPHA:330015 |
Anterior Segment Dysgenesis 8 |
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Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Inguinal hernia, Abnormality of the pancreas, Reduced bone mineral density, Long fibula, Abnormal... |
ORPHA:935 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Narrow grea... |
OMIM:617425 |
Acro-Renal-Ocular Syndrome |
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Optic disc hypoplasia, Microcornea, Chorioretinal coloboma, Triphalangeal thumb, Iris coloboma, H... |
ORPHA:959 |
Pgm3-Cdg |
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Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A... |
ORPHA:443811 |
Primary Intestinal Lymphangiectasia |
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Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology, Weight loss, Asc... |
ORPHA:90362 |
Weill-Marchesani Syndrome 2 |
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Short metatarsal, Broad ribs, Broad metacarpals, Short metacarpal, Shallow anterior chamber, Asti... |
OMIM:608328 |
Autosomal Dominant Keratitis |
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Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Ma... |
ORPHA:2334 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Failure to thrive, Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytos... |
OMIM:615934 |
Immunodeficiency 49 |
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Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Micrognathia, T lymphoc... |
OMIM:617237 |
Oculoauricular Syndrome |
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Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Short mandibular ra... |
OMIM:612109 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Autoimmune Lymphoproliferative Syndrome |
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Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Immunodeficiency 85 And Autoimmunity |
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Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce... |
OMIM:619510 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... |
OMIM:243150 |
Meige Disease |
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Absence of lymph node germinal center, Pedal edema, Atypical scarring of skin, Lymph node hypopla... |
ORPHA:90186 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Inguinal hernia, Cataract, Dilated cardiomyopathy, Truncal obesity, Limb undergrowth, Clinodactyl... |
OMIM:616541 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Metaphyseal dysplasia, Autoimmune thrombocytopenia, Short iliac bones, Metaphyseal sclerosis, Met... |
OMIM:607944 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
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Osteopenia, Portal hypertension, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Roberts Syndrome |
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Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia |
OMIM:250800 |
Adult Idiopathic Neutropenia |
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Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
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Hemolytic anemia, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Nuclear cataract, Stomatocytosis |
OMIM:608885 |
Spondyloocular Syndrome |
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Osteopenia, Retinal detachment, Long toe, Cataract, Arachnodactyly, Femur fracture, Overlapping t... |
OMIM:605822 |
Sponastrime Dysplasia |
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Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Ivory epiphyses of th... |
ORPHA:93357 |
Acrorenal-Mandibular Syndrome |
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Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi... |
OMIM:200980 |
Beta-Thalassemia |
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Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Atelosteogenesis, Type I |
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Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Fusariosis |
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Brain abscess, Fasciitis, Lung abscess, Abnormal retinal morphology, Keratitis, Abnormality of th... |
ORPHA:228119 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Hyperactivity, Autoimmune thrombocytopenia, Abnormal T cell morpholo... |
ORPHA:760 |
Heterotaxy, Visceral, 1, X-Linked |
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Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... |
OMIM:306955 |
Fuchs Heterochromic Iridocyclitis |
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Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
Classic Homocystinuria |
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Retinal detachment, Abnormality of retinal pigmentation, Cataract, Hepatomegaly, Arachnodactyly, ... |
ORPHA:394 |
Campomelic Dysplasia |
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Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Cataract, Spontaneous hemolytic crises, Jaundice, Hepatosplenomegaly, Stomatocytosis, Zonular cat... |
ORPHA:168577 |
Intermediate Uveitis |
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Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ... |
ORPHA:279914 |
Macrocephaly/Autism Syndrome |
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Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Lymphopenia |
OMIM:605309 |
Common Variable Immunodeficiency |
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Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Lympha... |
ORPHA:1572 |
Icf Syndrome |
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Abnormality of neutrophils, Micrognathia, Umbilical hernia, Lymphopenia, Anemia |
ORPHA:2268 |
Campomelic Dysplasia |
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Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Immunodeficiency 31C |
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Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anem... |
OMIM:614162 |
Ectopia Lentis Et Pupillae |
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Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Cranioectodermal Dysplasia 1 |
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Bicuspid aortic valve, Hepatic fibrosis, Hepatomegaly, Rhizomelia, Sagittal craniosynostosis, Mal... |
OMIM:218330 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
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Osteopenia, Epiphyseal dysplasia, Cataract, Congenital hip dislocation, Micrognathia, Splenomegal... |
OMIM:617913 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms... |
ORPHA:353281 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
Acromelic Frontonasal Dysplasia |
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Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p... |
ORPHA:1827 |
Acrofacial Dysostosis, Rodríguez Type |
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Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
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Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... |
OMIM:619767 |
Meckel Syndrome |
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Accessory spleen, Bowing of the long bones, Cataract, Abnormal chorioretinal morphology, Pancreat... |
ORPHA:564 |
Acute Radiation Syndrome |
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Lymphopenia, Granulocytopenia, Thrombocytopenia, Cataract |
ORPHA:454831 |
Acheiropodia |
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Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Omodysplasia 2 |
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Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... |
OMIM:164745 |
Wiskott-Aldrich Syndrome |
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Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Keratitis, Thrombocytopenia,... |
ORPHA:906 |
Acquired Methemoglobinemia |
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Methemoglobinemia |
ORPHA:464453 |
Persistent Hyperplastic Primary Vitreous |
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Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Thymoma |
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Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia |
ORPHA:99867 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Keratoconjunctivitis, Chronic hepatitis... |
OMIM:269200 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen... |
ORPHA:391487 |
Fibular Dimelia-Diplopodia Syndrome |
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Absent tibia |
ORPHA:1757 |
Immunodeficiency 87 And Autoimmunity |
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Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Tibial Hemimelia |
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Absent tibia |
OMIM:275220 |
Aniridia 1 |
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Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Blau Syndrome |
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Pericarditis, Cataract, Camptodactyly of finger, Abnormal retinal vascular morphology, Splenomega... |
ORPHA:90340 |
Kinsship Syndrome |
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Osteopenia, Pes planus, Coxa valga, Micrognathia, Hip dislocation, Bruxism, Fibular hypoplasia, C... |
OMIM:619297 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Pericardial effusion, Splenomegaly,... |
ORPHA:2136 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Osteopathia Striata With Cranial Sclerosis |
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Omphalocele, Failure to thrive, Paranasal sinus hypoplasia, Ventricular septal defect, Arachnodac... |
OMIM:300373 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Bicuspid aortic valve, Micrognathia, Compulsive behaviors, Atrial septal defect, Patent foramen o... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Micrognathia, Compulsive behaviors, Atrial septal defect, Patent foramen o... |
ORPHA:353277 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... |
OMIM:221900 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior |
ORPHA:309246 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Lymphadenopathy, Chronic hepatiti... |
ORPHA:289390 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Iris atrophy, Cataract, Ventricular septal defect, Metaphyseal widening, Osteoporosis... |
OMIM:259770 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu... |
ORPHA:91500 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Cono... |
ORPHA:2306 |
Craniorachischisis |
|
Omphalocele, Bifid sternum, Congenital diaphragmatic hernia, Sirenomelia |
ORPHA:63260 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Cushing Disease |
|
Dorsocervical fat pad, Optic nerve compression, Leukocytosis, Osteoporosis, Increased body weight... |
ORPHA:96253 |
Whim Syndrome |
|
Lymphadenitis, Cellulitis, Tetralogy of Fallot, Abnormal neutrophil morphology, Neutropenia, Lymp... |
ORPHA:51636 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Inguinal hernia, Short metacarpal, Bifid sternum, Pes pl... |
OMIM:303600 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Dorsocervical fat pad, Pancreatoblastoma, Anorexia, Neoplasm of the th... |
ORPHA:99889 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Cataract, Ventricular septal defect, Micrognathia, Small hand, Obesity, Fibular hypoplasia, Abnor... |
ORPHA:444077 |
Reynolds Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia |
OMIM:613471 |