Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerular fibronectin deposits, Hypertension, Nephrotic syndrome, Microscopic hematuria, Protein... |
OMIM:601894 |
Polycystic Kidney Disease 7 |
|
Hypertension, Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, ... |
OMIM:620056 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerular fibronectin deposits, Glomerulopathy, Hypertension, Nephropathy, Nephrotic syndrome, M... |
OMIM:137950 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... |
OMIM:616689 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hematuria, Hypertension, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulu... |
OMIM:616818 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Hypertension, Microscopic hematuria, Proteinuria, Renal insufficiency |
ORPHA:2613 |
Iga Nephropathy, Susceptibility To, 2 |
|
Hematuria, Hypertension, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chroni... |
OMIM:613944 |
Focal Segmental Glomerulosclerosis 2 |
|
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney... |
OMIM:603965 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils, Clinodactyly of the 5th finger, Ra... |
ORPHA:2760 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Rena... |
OMIM:161900 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... |
OMIM:261000 |
Focal Segmental Glomerulosclerosis 5 |
|
Hypertension, Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chr... |
OMIM:613237 |
Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... |
OMIM:616216 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Hypertension, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency |
OMIM:607832 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
Moyamoya Disease 1 |
|
Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
Dehydrated Hereditary Stomatocytosis |
|
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... |
ORPHA:3202 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
Adenine Phosphoribosyltransferase Deficiency |
|
Acute kidney injury, Atrial fibrillation, Recurrent urinary tract infections, Dysuria, Uric acid ... |
ORPHA:976 |
Overhydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia |
OMIM:185000 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary artery vasoconstriction, Elevated right atrial pressure, Hypertension, Pulmonary arteri... |
OMIM:178600 |
Brachydactyly, Type E1 |
|
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly |
OMIM:113300 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Congestive heart failure, Coronary artery calcification, Reduced left ventricular ejection fracti... |
OMIM:614473 |
Diamond-Blackfan Anemia 6 |
|
Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
OMIM:612561 |
Sickle Cell Anemia |
|
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Finger dacty... |
ORPHA:232 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia |
OMIM:615506 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis |
OMIM:266140 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype... |
OMIM:617021 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:613839 |
Cleidocranial Dysplasia 2 |
|
Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossification of carpal bon... |
OMIM:620099 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Bowed humerus, Short clavicles, Hypoplastic pelvis, Absent thumb, Hypoplastic scapulae |
OMIM:618022 |
Pelvis-Shoulder Dysplasia |
|
Clinodactyly of the 5th finger, Hypoplastic acetabulae, Short clavicles, Hypoplastic ilia, Congen... |
OMIM:169550 |
Ivic Syndrome |
|
Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Leukocytosis, Thromboc... |
ORPHA:2307 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Clubbing, Thrombocytopenia, Splenomegaly |
OMIM:620367 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Short clavicles |
OMIM:168550 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Syndactyly, Clinodactyly, Neu... |
ORPHA:2169 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... |
OMIM:147750 |
Shwachman-Diamond Syndrome |
|
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... |
ORPHA:811 |
Diamond-Blackfan Anemia 7 |
|
Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Short thumb, Neutropenia |
OMIM:612562 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... |
OMIM:617052 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... |
OMIM:300106 |
Bent Bone Dysplasia Syndrome 1 |
|
Hypoplastic pubic bone, Short clavicles, Hepatosplenomegaly, Brachydactyly, Bent long bone |
OMIM:614592 |
Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
Desbuquois Dysplasia 2 |
|
Monkey wrench femoral neck, Short clavicles, Short long bone, Flat acetabular roof, Short metacar... |
OMIM:615777 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Diamond-Blackfan Anemia 1 |
|
Hypoplasia of the radius, Elevated red cell adenosine deaminase activity, Triphalangeal thumb, Ma... |
OMIM:105650 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia, Proximal placement of thumb, Hip dysplasia |
ORPHA:261250 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop... |
OMIM:127550 |
Melnick-Needles Syndrome |
|
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Cone-shaped epip... |
ORPHA:2484 |
Xylt1-Cdg |
|
Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short femoral neck, Clinodactyl... |
ORPHA:370930 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Short clavicles, Recurrent shoulder dislocation, Down-sloping shoulders, Finger joint contracture |
OMIM:212112 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... |
OMIM:609945 |
Fgfr2-Related Bent Bone Dysplasia |
|
Short clavicles, Steep acetabular roof, Hypoplastic ischia, Hepatosplenomegaly, Incomplete ossifi... |
ORPHA:313855 |
Cleidocranial Dysplasia |
|
Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abnormal metacarpal morph... |
ORPHA:1452 |
Restrictive Dermopathy 2 |
|
Short clavicles, Overtubulated long bones |
OMIM:619793 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Short 4th metacarpal, Short clavicles |
OMIM:606220 |
Crane-Heise Syndrome |
|
Finger syndactyly, Short distal phalanx of finger, Toe syndactyly, Hypoplastic scapulae, Aplastic... |
ORPHA:1512 |
Enlarged Parietal Foramina |
|
Broad thumb, Short clavicles |
ORPHA:60015 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan... |
OMIM:187300 |
Hereditary Hemorrhagic Telangiectasia |
|
Tongue telangiectasia, Gastrointestinal hemorrhage, Nasal mucosa telangiectasia, Epistaxis, Telan... |
ORPHA:774 |
Van Den Ende-Gupta Syndrome |
|
2-3 toe cutaneous syndactyly, Ulnar bowing, Slender long bone, Dislocated radial head, Camptodact... |
OMIM:600920 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Short clavicles, Tapered finger, Small hand |
ORPHA:401923 |
Cleidocranial Dysplasia 1 |
|
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... |
OMIM:119600 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, Epiphyseal stippling, Finger syndactyly, Absent ... |
OMIM:308050 |
Achondrogenesis, Type Ia |
|
Hypoplasia of the radius, Short clavicles, Hypoplastic ischia, Abnormal femoral metaphysis morpho... |
OMIM:200600 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal metacarpal morphology, Abnormal finger morphology, Oligodactyly, Ectrodactyly, Absent ha... |
ORPHA:2538 |
Pycnodysostosis |
|
Narrow iliac wing, Osteolytic defects of the distal phalanges of the hand, Aplastic clavicle, Bra... |
OMIM:265800 |
Sweeney-Cox Syndrome |
|
Short clavicles, 2-5 toe syndactyly, Asplenia, 2-4 finger syndactyly, 2-5 finger cutaneous syndac... |
OMIM:617746 |
Occipital Horn Syndrome |
|
Abnormal fibula morphology, Humerus varus, Genu valgum, Large iliac wing, Abnormal pubic bone mor... |
ORPHA:198 |
Hurler Syndrome |
|
Diaphyseal undertubulation, Short clavicles, Flared iliac wing, Hypoplasia of the femoral head, M... |
OMIM:607014 |
Blomstrand Lethal Chondrodysplasia |
|
Flared metaphysis, Metaphyseal cupping, Short metacarpal, Bowing of the long bones, Abnormal epip... |
ORPHA:50945 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Subluxation of the small joints of the hand, Flat capital femoral epiphysis, Flared metaphysis, A... |
ORPHA:536471 |
Melnick-Needles Syndrome |
|
Genu valgum, Osteolytic defects of the phalanges of the hand, Cone-shaped epiphyses of the phalan... |
OMIM:309350 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of the ulna, Aplasia of the 4th metacarpal, Hypoplasia of the radius, Aplasia of the 5... |
OMIM:181450 |
Chime Syndrome |
|
Acute leukemia, Aplasia/Hypoplasia of the phalanges of the toes, Short foot, Short palm, Aplasia/... |
ORPHA:3474 |
Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Flat acetabular roof, Tapered finger, Short femoral neck |
OMIM:617159 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Short clavicles, Split hand, Hypoplastic pelvis, Split foot, Camptodactyly of ... |
ORPHA:2092 |
Van Maldergem Syndrome 1 |
|
Short 4th metacarpal, Short clavicles, Camptodactyly, Short fourth metatarsal, Cutaneous finger s... |
OMIM:601390 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short phalanx of finger, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis o... |
OMIM:608612 |
Van Maldergem Syndrome 2 |
|
Short 4th metacarpal, Hip subluxation, Short clavicles, Short fourth metatarsal, Cutaneous finger... |
OMIM:615546 |
Holt-Oram Syndrome |
|
Proximal placement of thumb, Aplasia of the 1st metacarpal, 1-2 finger syndactyly, Short humerus,... |
OMIM:142900 |
Mandibuloacral Dysplasia |
|
Short clavicles, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal... |
ORPHA:2457 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Flared metaphysis, Dislocated radial head, Short clavicles, Phalangeal dislocation, Bowing of the... |
OMIM:130070 |
Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Short clavicles |
OMIM:619322 |
Familial Osteodysplasia, Anderson Type |
|
Bifid femur, Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Aplastic clavicle |
ORPHA:2769 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal metaphysis morphology, Aplasia/hypoplasia of the femur, Broad distal phalanx of finger, ... |
ORPHA:2636 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short clavicles, Osteolytic defects of the distal phalanges of the hand, Camptodactyly, Acroosteo... |
OMIM:248370 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal metaphysis morphology, Abnormal metacarpal morphology, Finger syndactyly, Abnormal finge... |
ORPHA:2658 |
Ear-Patella-Short Stature Syndrome |
|
Clinodactyly of the 5th finger, Slender long bone, Camptodactyly of finger, Patellar aplasia, Abn... |
ORPHA:2554 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short clavicles, Short long bone, Postaxial hand polydactyly, Postaxial polydactyly, Splenomegaly... |
OMIM:617088 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Preaxial polydactyly, Aplastic clavicle |
OMIM:616546 |
Eisenmenger Syndrome |
|
Increased mean corpuscular volume, Clubbing, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:97214 |
Cdags Syndrome |
|
Short clavicles |
OMIM:603116 |
Floating-Harbor Syndrome |
|
Ivory epiphyses of the distal phalanges of the hand, Clinodactyly of the 5th finger, Cone-shaped ... |
OMIM:136140 |
Yunis-Varon Syndrome |
|
Flat acetabular roof, Absent thumb, Short distal phalanx of finger, Clinodactyly, Aplastic clavic... |
OMIM:216340 |
Occipital Horn Syndrome |
|
Genu valgum, Short clavicles, Pelvic bone exostoses, Short humerus, Capitate-hamate fusion, Coxa ... |
OMIM:304150 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Aplastic clavicle |
ORPHA:85199 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short finger, Broad finger, Short clavicles, Short fifth metatarsal, Tapered finger, Short fourth... |
OMIM:619841 |
Floating-Harbor Syndrome |
|
Dislocated radial head, Short clavicles, Short metacarpal, Short thumb, Brachydactyly, Hip dyspla... |
ORPHA:2044 |
Restrictive Dermopathy 1 |
|
Rocker bottom foot, Short clavicles, Osteolytic defects of the distal phalanges of the hand, Over... |
OMIM:275210 |
Hutchinson-Gilford Progeria Syndrome |
|
Short clavicles, Osteolytic defects of the distal phalanges of the hand, Coxa valga, Hip dislocation |
ORPHA:740 |
Microphthalmia, Syndromic 1 |
|
Radial deviation of finger, Short clavicles, Prominent fingertip pads, Camptodactyly, Down-slopin... |
OMIM:309800 |