Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... |
ORPHA:93323 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Pelger-Huet Anomaly |
|
Failure to thrive, Pes cavus, Hyposegmentation of neutrophil nuclei, Upper limb undergrowth, Shor... |
OMIM:169400 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... |
OMIM:619041 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Atrial septal defect, Persistence of hemogl... |
OMIM:612561 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Abnormality of tibia mo... |
ORPHA:1802 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... |
OMIM:618849 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver |
OMIM:206100 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platelet volume, Preseni... |
ORPHA:182050 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skul... |
ORPHA:3319 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Developmental cataract, Giant platelets,... |
OMIM:153640 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... |
OMIM:601376 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Syndactyly, Osteoporosis, Macr... |
ORPHA:2169 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplastic left heart, Hypoplasia of the radius, Radial club hand, Short tibi... |
ORPHA:1972 |
Slc35A1-Cdg |
|
Cellulitis, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules |
ORPHA:238459 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Secundum atrial septal defect, Osteopenia, Osteoporosis, Tetra... |
OMIM:612562 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... |
OMIM:231200 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils, Clinodactyly of the 5th finger, Ra... |
ORPHA:2760 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Osteopenia, Aplastic anemia, Macrocytic anemia, ... |
ORPHA:811 |
Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Failure to thrive, Flexion co... |
OMIM:609628 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... |
OMIM:210250 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Short long bone, Abno... |
ORPHA:1505 |
Blackfan-Diamond Anemia |
|
Absent thumb, Ventricular septal defect, Reticulocytopenia, Abnormal heart morphology, Increased ... |
ORPHA:124 |
Lathosterolosis |
|
Talipes equinovarus, Micrognathia, Hepatosplenomegaly, Anisopoikilocytosis, Opacification of the ... |
OMIM:607330 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... |
OMIM:616860 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly |
OMIM:153670 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Anisocytosis, Genu valgum, Bowing of the long bones, Jaundice,... |
ORPHA:231226 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Red... |
ORPHA:848 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... |
ORPHA:231214 |
Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... |
OMIM:617514 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Micromelia, Cataract |
OMIM:273680 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Retic... |
OMIM:611590 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Micrognathia, Astigmatism, Ventricular septal defect, Dilated ... |
ORPHA:261250 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Lymphopenia, Hepatomegaly, Atrial septal defect, Splenomegaly, Small for g... |
ORPHA:84064 |
Takenouchi-Kosaki Syndrome |
|
Abnormal cardiac septum morphology, Overlapping toe, Inguinal hernia, Pulmonic stenosis, Tapered ... |
OMIM:616737 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... |
ORPHA:98870 |
Immunodeficiency 19 |
|
Failure to thrive, Lymphopenia |
OMIM:615617 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... |
OMIM:615285 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Osteoporosis, Weight loss, Osteolysis, Anemia,... |
ORPHA:100024 |
Trichohepatoenteric Syndrome 1 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Small for gestational age, Cirr... |
OMIM:222470 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Trimethylaminuria |
|
Depression, Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Slc35A2-Cdg |
|
Talipes equinovarus, Craniosynostosis, Short tibia, Aplasia/hypoplasia involving bones of the ext... |
ORPHA:356961 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Micrognathia, Short middle phalanx of toe, Short proximal phalanx of hallux, Enamel hypoplasia, S... |
OMIM:251190 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia |
OMIM:200900 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Talipes equinovarus, Small for gestational age, Hypoplasia of the radius, Shor... |
OMIM:607143 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Failure to thrive, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Lymphadenopathy |
OMIM:617718 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... |
OMIM:601559 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis |
ORPHA:90044 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... |
OMIM:201170 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Shwachman-Diamond Syndrome 1 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Metaphyseal sclerosis, Proximal femoral epiphysi... |
OMIM:260400 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germ... |
OMIM:619924 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Flexion contracture, Inguinal hernia, Abnormality of the lymphatic system, Taper... |
ORPHA:487796 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Conjunctival telangiectasia, Increased proportion of gamma-del... |
OMIM:619774 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Syndactyly, Po... |
OMIM:615631 |
Castleman Disease |
|
Decreased mean corpuscular volume, Myelofibrosis, Restrictive cardiomyopathy, Follicular hyperpla... |
ORPHA:160 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Pedal edema, Bon... |
ORPHA:86839 |
Immunodeficiency 64 |
|
Failure to thrive, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells... |
OMIM:618534 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Cataract, Weight loss, Jaundice |
ORPHA:79238 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Micrognathia, Short tibia, Micromelia... |
OMIM:251230 |
Immunodeficiency 69 |
|
Failure to thrive, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, ... |
OMIM:618963 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hy... |
OMIM:209950 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Failure to thrive, Hepatocellular necrosis, Hepatomegaly, Micr... |
OMIM:618278 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Congenital Rubella Syndrome |
|
Corneal opacity, Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Apl... |
ORPHA:290 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Metaphyseal irregularity, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, ... |
OMIM:269920 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Hepatomegaly, Hepatoblastoma, Absent glenoid fossa, Clinodactyly of... |
ORPHA:96334 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... |
OMIM:614470 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low... |
OMIM:602450 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/... |
OMIM:609945 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect, Lymphopenia, Neutropenia |
OMIM:614868 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Inguinal hernia, Splenomegaly, Epiphyseal stippling, Ascite... |
OMIM:256550 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Hepatomegaly, Narrow greate... |
OMIM:602557 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia |
OMIM:615085 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic erythropoe... |
ORPHA:300298 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Ascites, Anemia, Thrombocytopenia, Jaundice, Failure to thrive in infancy, Cardiome... |
ORPHA:858 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Splenomegaly, Abnormally ossified vertebrae, Micrognathia, Abnormal... |
ORPHA:3035 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Failure to thrive, Lymphopenia, Hepatomegaly, Jaundice, Ab... |
ORPHA:276 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Lymphopenia, Hepatomegaly, Flexion contracture, Splenomegaly, Panniculitis, Fi... |
OMIM:617591 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia |
ORPHA:163596 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Flattened femoral head, Coxa vara, Flat capital femoral epiphysis, Metaphyseal spurs, Hip dysplas... |
ORPHA:166011 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... |
ORPHA:274 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Upper limb undergrowth, Cataract, Flared, irregular rib ends, Narrow greater sciatic ... |
ORPHA:168549 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... |
ORPHA:1856 |
Dyschondrosteosis And Nephritis |
|
Ulnar bowing, Short tibia, Radial bowing, Short forearm |
OMIM:127350 |
Femoral-Facial Syndrome |
|
Coxa vara, Rib fusion, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Inguinal hernia, Sho... |
ORPHA:1988 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:124900 |
Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... |
OMIM:619846 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Clinodactyly of the 5th finge... |
ORPHA:3320 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... |
OMIM:601560 |
Microphthalmia With Limb Anomalies |
|
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... |
ORPHA:1106 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Brachydactyly, Enamel hypoplasia, Abnormal rib morphology, Abnormal epiphysis morphology, Catarac... |
ORPHA:2643 |
Achondrogenesis Type 2 |
|
Abnormal bone ossification, Lens subluxation, Short ribs, Delayed proximal femoral epiphyseal oss... |
ORPHA:93296 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegal... |
OMIM:613179 |
Metatropic Dysplasia |
|
Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Camptoda... |
ORPHA:2635 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia, T lymph... |
ORPHA:277 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Noonan Syndrome 12 |
|
Lymphopenia, 11 pairs of ribs, Tetralogy of Fallot, Ventricular septal defect, Proximal placement... |
OMIM:618624 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... |
OMIM:617948 |
Orofaciodigital Syndrome Ix |
|
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly |
OMIM:258865 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Micrognathia, Preaxial polydacty... |
OMIM:617925 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Cellulitis, Abnormally low T cell receptor excision circle level, Hepat... |
OMIM:618986 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... |
OMIM:274000 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... |
ORPHA:169154 |
Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Small f... |
OMIM:224120 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
Saul-Wilson Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Talipes equin... |
OMIM:618150 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... |
OMIM:613091 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, Short humerus, Brachydactyly, B lymphocytopenia, Rhizomelic arm shorteni... |
ORPHA:508542 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Leukopenia, Anxiety, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
Omodysplasia 1 |
|
Atrial septal defect, Limited knee flexion/extension, Increased fibular diameter, Micrognathia, L... |
OMIM:258315 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... |
OMIM:603554 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Short ribs, Pancreatic fibrosis, Brachydactyly, Postaxial polysyndactyly of... |
OMIM:263520 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Failure to thrive, Tibial bowing, Metaphyseal irregularity, Delayed epiphyseal ossification, Bowi... |
OMIM:600081 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Hiatus hernia, Persistence of hemoglobin F, Astigmatism, Ventricular septal... |
OMIM:619769 |
Occipital Horn Syndrome |
|
Hiatus hernia, Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, ... |
ORPHA:198 |
Eisenmenger Syndrome |
|
Increased mean corpuscular volume, Bacterial endocarditis, Hepatomegaly, Atrial septal defect, At... |
ORPHA:97214 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Hepatomegaly, Splenomegaly, Dense calvaria, Aggressive behavior, Asymmetric septa... |
OMIM:252920 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Clinodactyly, Macrothrombocytopenia, Neutropenia, Thrombocytopenia, Decreased platelet glycoprote... |
OMIM:603585 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Failure to thrive, Metaphyseal irregularity, Subperiosteal bone resorption, Tibial bowing, Delaye... |
OMIM:264700 |
Lymphangiectasia, Intestinal |
|
Pedal edema, Lymphopenia, Prominent floating ribs, Intestinal lymphangiectasia |
OMIM:152800 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, Short toe, Talipes equinovarus, Flexion contracture, Micrognathia, Microcytic ... |
ORPHA:98791 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Fibrochondrogenesis 1 |
|
Megalocornea, Rhizomelia, Omphalocele, Posterior rib cupping, Dumbbell-shaped long bone, Short lo... |
OMIM:228520 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Abscess, Lymphadenitis, Hem... |
OMIM:618935 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Failure to thrive, Hepatomegaly, Talipes equinovarus, Splenomegaly, Micrognathia, Hepatosplenomeg... |
OMIM:614866 |
Alpha-Mannosidosis, Adult Form |
|
Corneal opacity, Depression, Osteopenia, Hepatosplenomegaly, Anxiety, Cataract, Pancytopenia |
ORPHA:309288 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatomegaly, Eosinophilia, Hepatosplenome... |
ORPHA:331206 |
Storage Pool Platelet Disease |
|
Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Anisopoikilocytosis, Anemia, Thrombocytopenia |
OMIM:617441 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Myelofibrosis, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia,... |
OMIM:301078 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia |
OMIM:616959 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Cataract, Hepatic steatosi... |
OMIM:618805 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Osteolys... |
ORPHA:100026 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Intermittent thrombocytopenia,... |
OMIM:612541 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... |
OMIM:600903 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
Atelosteogenesis Type Iii |
|
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... |
ORPHA:56305 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Hepatomegaly, Cervical lymphadenopathy, Ventricular septal defect,... |
OMIM:602782 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Cirrhosis, Neutropenia, Anemia, Cardiomyopathy |
OMIM:604250 |
Adams-Oliver Syndrome |
|
Abnormal pulmonary valve morphology, Failure to thrive, Short distal phalanx of finger, Absent ha... |
ORPHA:974 |
Mietens Syndrome |
|
Coxa vara, Corneal opacity, Clinodactyly of the 5th finger, Coxa valga, Hypoplasia of the radius,... |
ORPHA:2557 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Cataract, Jaundice |
OMIM:608885 |
Wiskott-Aldrich Syndrome |
|
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Osteopenia, Lymphopenia |
OMIM:614162 |
Cyclic Neutropenia |
|
Lymphopenia, Cellulitis, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Cyclic neu... |
ORPHA:2686 |
Multiple Synostoses Syndrome 1 |
|
Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalanges of the hand, Hy... |
OMIM:186500 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Macrocephaly/Autism Syndrome |
|
Obesity, Lymphopenia, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... |
OMIM:223800 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Camurati-Engelmann Disease |
|
Abnormality of femur morphology, Hepatomegaly, Abnormality of the humerus, Genu valgum, Abnormal ... |
ORPHA:1328 |
Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Talipes equinovarus, Small for gestational age, Lateral displacement of the femoral ... |
OMIM:242900 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Megalocornea, Opacification of the co... |
OMIM:164900 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Orofaciodigital Syndrome Type 2 |
|
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... |
ORPHA:2751 |
Immunodeficiency 36 |
|
Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decre... |
OMIM:616005 |
Thrombocytopenia 1 |
|
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume |
OMIM:313900 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Decreased body weight, Delayed tarsal ossification,... |
OMIM:600002 |
Mevalonic Aciduria |
|
Failure to thrive, Fluctuating hepatomegaly, Nuclear cataract, Leukocytosis, Fluctuating splenome... |
OMIM:610377 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Small for gestational age |
ORPHA:621 |
Proteus-Like Syndrome |
|
Genu recurvatum, Abnormal pupil morphology, Splenomegaly, Limbal dermoid, Shagreen patch, Thymus ... |
ORPHA:2969 |
Cartilage-Hair Hypoplasia |
|
Coxa vara, Metaphyseal dysplasia, Metaphyseal cupping, Lymphopenia, Congenital hypoplastic anemia... |
OMIM:250250 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Faciocardiomelic Dysplasia, Lethal |
|
Small for gestational age, Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia o... |
OMIM:227270 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Severe B lymph... |
OMIM:102700 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Exocrine pancreatic insufficiency, Lymphopenia, Atrial septal defect, Craniosynostosis, Small han... |
OMIM:620005 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Craniosynostosis, Talipes equinovalgus, Metacarpophalangeal joint hyperextensibility, Osteopenia,... |
OMIM:245600 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Bilateral talipes equinovarus, Popliteal pterygium, Mirror image foot polyda... |
OMIM:119800 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... |
OMIM:616100 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Anemia, Cardiomegaly |
OMIM:618886 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Corneal opacity, Lymphopenia, Pancreatitis, Small for gestational age, Shallow... |
ORPHA:1830 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Atrial septal defect, Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower... |
OMIM:608571 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ocular albinism, Abnormal hip bone morphology, Arachnodactyly, Hypochromic anemia, Reduced bone m... |
ORPHA:2720 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Hydrolethalus Syndrome 1 |
|
Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under... |
OMIM:236680 |
Agammaglobulinemia, X-Linked |
|
Cor pulmonale, Enteroviral hepatitis, Hepatocellular carcinoma, B lymphocytopenia, T lymphocytope... |
OMIM:300755 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Cataract, Bowing of the long bones, Omphalocele, Carpal synos... |
ORPHA:90652 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Cellulitis, Osteopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblas... |
ORPHA:486 |
Mirage Syndrome |
|
Decreased body weight, Lymphopenia, Talipes equinovarus, Radial club hand, Leukopenia, Overlappin... |
OMIM:617053 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Lethal Congenital Contracture Syndrome 10 |
|
Talipes equinovarus, Adducted thumb, Micrognathia, Hypoplasia of the thymus, Overlapping fingers,... |
OMIM:617022 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... |
OMIM:171480 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... |
OMIM:194380 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Craniosynostosis, Narrow greater sciatic notch, Micrognathia, Broad phalanges of th... |
ORPHA:508533 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Dislocated radial head, Metaphyseal dysplasia, Lymphopenia, Delayed ossific... |
OMIM:617425 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Inguinal hernia, Reduced bone mineral density, Abnormality of the pancreas, Long fib... |
ORPHA:935 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Hepatitis, Failure to thrive secondary to recurren... |
ORPHA:169160 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Thin ribs, Split foot, Hypoplasia of the radius, Micrognathia, R... |
ORPHA:958 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiom... |
OMIM:603903 |
Lathosterolosis |
|
Failure to thrive, Hepatomegaly, Micrognathia, Anisopoikilocytosis, Microcornea, Opacification of... |
ORPHA:46059 |
Legionnaires Disease |
|
Lymphopenia, Pancreatitis, Cellulitis, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Bone m... |
ORPHA:549 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision ci... |
OMIM:242700 |
Cousin Syndrome |
|
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, ... |
OMIM:260660 |
Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:616649 |
Popov-Chang syndrome |
|
Failure to thrive, Clinodactyly of the 5th finger, Lymphopenia, Self-injurious behavior, Pulmonic... |
OMIM:618428 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
2-3 toe syndactyly, Lymphopenia, Aggressive behavior, Irritability |
ORPHA:391307 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Failure to thrive, Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Parat... |
OMIM:615934 |
Microphthalmia With Limb Anomalies |
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Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... |
OMIM:206920 |
Gaucher Disease, Type Iiic |
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Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Pes cavus, Mitral valve ... |
OMIM:231005 |
Pgm3-Cdg |
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Cutaneous abscess, Failure to thrive, Abnormal proportion of CD8-positive T cells, Lymphopenia, N... |
ORPHA:443811 |
Acquired Methemoglobinemia |
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Methemoglobinemia, Anxiety |
ORPHA:464453 |
Solute carrier family 4 (anion exchanger), member 1 |
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Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Craniosynostosis, Osteopenia, H... |
OMIM:266920 |
Weill-Marchesani Syndrome 2 |
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Thin bony cortex, Ventricular septal defect, Iridodonesis, Cataract, Broad ribs, Umbilical hernia... |
OMIM:608328 |
Autoimmune Lymphoproliferative Syndrome |
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Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... |
ORPHA:3261 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Abnormal hemoglobin, Clinodactyly of the 5th finger, Talipes equinovarus, Self-injurious behavior... |
ORPHA:847 |
Primary Intestinal Lymphangiectasia |
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Peritoneal effusion, Lymphopenia, Decreased proportion of CD3-positive T cells, Abnormal lymphati... |
ORPHA:90362 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
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Talipes equinovarus, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Radial de... |
OMIM:141750 |
Immunodeficiency 85 And Autoimmunity |
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Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... |
OMIM:619510 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia |
OMIM:250800 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Ventricular septal defect, Thrombocytosis, I... |
OMIM:243150 |
Overhydrated Hereditary Stomatocytosis |
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Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Sneddon Syndrome |
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Bicuspid aortic valve, Lymphopenia, Atrophic scars |
OMIM:182410 |
Charge Syndrome |
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Self-mutilation, Down-sloping shoulders, Ventricular septal defect, Hypoplasia of the ulna, Catar... |
OMIM:214800 |
Pseudohypoparathyroidism Type 1A |
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Band keratopathy, Short 3rd metacarpal, Cataract, Broad distal phalanx of the thumb, Short fifth ... |
ORPHA:79443 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
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Talipes equinovarus, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Tapered f... |
OMIM:301040 |
Meige Disease |
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Cellulitis, Absence of lymph node germinal center, Pedal edema, Lymph node hypoplasia, Atypical s... |
ORPHA:90186 |
Trichothiodystrophy 3, Photosensitive |
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Failure to thrive, Lymphopenia, Abdominal adhesions, Cataract, Developmental cataract, Neutropenia |
OMIM:616395 |
Lead Poisoning |
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Small for gestational age, Depression, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell m... |
ORPHA:330015 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Lymphopenia, Hepatomegaly, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocyt... |
OMIM:615688 |
Beta-Thalassemia |
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Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Cryohydrocytosis |
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Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Roberts Syndrome |
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Craniosynostosis, Hypoplasia of the radius, Radioulnar synostosis, Cataract, Sandal gap, Complete... |
ORPHA:3103 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Long hallux, Tibial bowing, Talipes equinovarus, Camptodactyly, Inguinal hernia, Abnormal right v... |
ORPHA:500095 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
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Lymphopenia, Inguinal hernia, Pes cavus, Truncal obesity, Limb undergrowth, Dilated cardiomyopath... |
OMIM:616541 |
Sponastrime Dysplasia |
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Genu valgum, Rhizomelia, Hip subluxation, Small epiphyses, Cataract, Microcoria, Short long bone,... |
ORPHA:93357 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Metaphyseal irregularity, Metaphyseal dysplasia, Sclerosis of skull base, Lymphopenia, Metaphysea... |
OMIM:607944 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Polycys... |
OMIM:208500 |
Atelosteogenesis, Type I |
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Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... |
OMIM:108720 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Flexion contracture of finger, Hepatomegaly, Lipodystrophy, Cardiomegaly, Lymphadenopathy, Flexio... |
OMIM:256040 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Zonular cataract, Hepatosplenomegaly, Spontaneous hemolytic crises, Brachydactyly, Cataract, Stom... |
ORPHA:168577 |
Acrorenal-Mandibular Syndrome |
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Congenital diaphragmatic hernia, Thin ribs, Split foot, Hypoplasia of the radius, Micrognathia, H... |
OMIM:200980 |
Common Variable Immunodeficiency |
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Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Lymphadenopathy, Failur... |
ORPHA:1572 |
Campomelic Dysplasia |
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Poorly ossified cervical vertebrae, Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowin... |
OMIM:114290 |
Pediatric Systemic Lupus Erythematosus |
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Lymphopenia, Leukopenia, Microangiopathic hemolytic anemia, Thrombocytopenia, Pericardial effusio... |
ORPHA:93552 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Failure to thrive, Lymphopenia, Absent peripheral lymph nodes in presence of infection, T lymphoc... |
OMIM:600802 |
Anterior Segment Dysgenesis 8 |
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Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... |
OMIM:617319 |
Adult Idiopathic Neutropenia |
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Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
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Clinodactyly of the 5th finger, Lymphopenia |
ORPHA:1116 |
Kyphomelic Dysplasia |
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Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Undulate ribs, Femoral bowing, Mi... |
OMIM:211350 |
Brachymesomelia-Renal Syndrome |
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Hypoplasia of the radius, Micrognathia, Opacification of the corneal stroma, Mesomelic arm shorte... |
OMIM:113470 |
Immunodeficiency 49 |
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Micrognathia, Eosinophilia, Lymphopenia, Umbilical hernia |
OMIM:617237 |
Heterotaxy, Visceral, 1, X-Linked |
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Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Congenital hip dislocation, Enlarge... |
OMIM:306955 |
Campomelic Dysplasia |
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Poorly ossified cervical vertebrae, Small abnormally formed scapulae, Tibial bowing, Talipes equi... |
ORPHA:140 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Lymphopenia, Cirrhosis, Aplastic anemia, Osteoporosis, Bone marrow hypocellularity, Anemia, Throm... |
OMIM:127550 |
Icf Syndrome |
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Lymphopenia, Micrognathia, Abnormality of neutrophils, Umbilical hernia, Anemia |
ORPHA:2268 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
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Talipes equinovarus, Lymphopenia, Neutropenia, Cutaneous abscess, Reduced natural killer cell count |
OMIM:619752 |
Acheiropodia |
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Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Lymphopenia, Intestinal lymphangiectasia |
OMIM:207731 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
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Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
Fusariosis |
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Keratitis, Lymphopenia, Cellulitis, Peritonitis, Abnormality of the spleen, Brain abscess, Fascii... |
ORPHA:228119 |
Wiskott-Aldrich Syndrome |
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Keratitis, Lymphopenia, Abnormal eosinophil morphology, Conjunctivitis, Hypoplasia of the thymus,... |
ORPHA:906 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Thymoma, Exocrine pancreatic insufficiency, Band keratopathy, Cirrhosis, Chronic hepatitis, Kerat... |
OMIM:269200 |
Thymoma |
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Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Weight loss, Leukemia |
ORPHA:99867 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
ORPHA:35078 |
Acromelic Frontonasal Dysplasia |
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Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Midline central nervous system lipomas, Pat... |
ORPHA:1827 |
Osteofibrous Dysplasia, Susceptibility To |
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Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
Purine Nucleoside Phosphorylase Deficiency |
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Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... |
ORPHA:760 |
Ulna And Fibula, Hypoplasia Of |
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Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Acrofacial Dysostosis, Rodríguez Type |
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Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou... |
ORPHA:1788 |
Fibular Dimelia-Diplopodia Syndrome |
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Absent tibia |
ORPHA:1757 |
Cranioectodermal Dysplasia 1 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic cysts, Rhizomelia, Sagittal crani... |
OMIM:218330 |
Immunodeficiency 87 And Autoimmunity |
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Lymphopenia, Hepatomegaly, Atrial septal defect, Atrioventricular canal defect, Small for gestati... |
OMIM:619573 |
Tibial Hemimelia |
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Absent tibia |
OMIM:275220 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Osteopenia, Hepatosplenomegaly... |
ORPHA:391487 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Hypoplasia of the radius, Femoral bowing, Decreased calvarial ossification, Broad ribs, Aplasia/H... |
OMIM:276820 |
Osteopathia Striata With Cranial Sclerosis |
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Failure to thrive, Sclerosis of skull base, Clinodactyly of the 5th finger, Atrial septal defect,... |
OMIM:300373 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Immunodeficiency 55 |
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Neutropenia, Lymphopenia, Lymphadenopathy, Absent natural killer cells |
OMIM:617827 |
Hennekam Syndrome |
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Lymphangioma, Lymphopenia, Splenomegaly, Craniosynostosis, Pulmonary lymphangiectasia, Camptodact... |
ORPHA:2136 |
Schneckenbecken Dysplasia |
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Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic ilia, Micromeli... |
ORPHA:3144 |
Primary Sjögren Syndrome |
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Corneal perforation, Chronic active hepatitis, Lymphopenia, Depression, Leukopenia, Chronic hepat... |
ORPHA:289390 |
Ebola Hemorrhagic Fever |
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Lymphopenia, Leukopenia, Acute pancreatitis, Hepatitis, Thrombocytopenia |
ORPHA:319218 |
Cushing Disease |
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Abdominal obesity, Lymphopenia, Leukocytosis, Depression, Panic attack, Osteoporosis, Truncal obe... |
ORPHA:96253 |
Kinsship Syndrome |
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Failure to thrive, Dislocated radial head, Supernumerary ribs, Micrognathia, Osteopenia, Polydact... |
OMIM:619297 |
Craniorachischisis |
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Bifid sternum, Congenital diaphragmatic hernia, Sirenomelia, Omphalocele |
ORPHA:63260 |
Whim Syndrome |
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Lymphopenia, Cellulitis, Lymphadenitis, Tetralogy of Fallot, Neutropenia, Abnormality of neutroph... |
ORPHA:51636 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
Ataxia-Telangiectasia |
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Failure to thrive, Lymphopenia, Hypoplasia of the thymus, Conjunctival telangiectasia, T lymphocy... |
OMIM:208900 |
Camptodactyly Syndrome, Guadalajara, Type I |
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Absent ethmoidal sinuses, Short metatarsal, Camptodactyly of 2nd-5th fingers, Brachydactyly, Shor... |
OMIM:211910 |
Coffin-Lowry Syndrome |
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Drumstick terminal phalanges, Uterine prolapse, Decreased body weight, Inguinal hernia, Hyperexte... |
OMIM:303600 |
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
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Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... |
OMIM:601027 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Abdominal obesity, Lymphopenia, Leukocytosis, Abnormality of the lymph nodes, Depression, Anxiety... |
ORPHA:99889 |
Orofaciodigital Syndrome Type 4 |
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Failure to thrive, Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Preaxial han... |
ORPHA:2753 |
Marburg Hemorrhagic Fever |
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Lymphopenia, Pancreatitis, Leukopenia, Conjunctival hyperemia, Abnormal lymphocyte morphology, Pe... |
ORPHA:99826 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hypoplasia of proximal radius, Small hand, Micrognathia, Brachydactyly, Ventricular septal defect... |
ORPHA:444077 |