| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia, Menorrhagia |
OMIM:620484 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Radioulnar synostosis, Amegakaryocytic thrombocytopenia, Hip dysplasia, Clinod... |
ORPHA:71289 |
| Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d... |
ORPHA:93323 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Failure to thrive, Lymphocytosis, Thrombocytopenia, Elevated circ... |
OMIM:617718 |
| Beemer Lethal Malformation Syndrome |
|
Wide nasal bridge, Ambiguous genitalia, Thrombocytopenia |
OMIM:209970 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
| Pelger-Huet Anomaly |
|
Giant platelets, Failure to thrive, Short 3rd metacarpal, Upper limb undergrowth, Short 5th metac... |
OMIM:169400 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
| Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... |
ORPHA:240 |
| Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Rhizomelia, Failure to thrive, Hypoglycemia, Short tibia, Sandal gap, Cryptorchidi... |
OMIM:607143 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ... |
OMIM:612447 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... |
OMIM:127300 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Malaria |
|
Hyperbilirubinemia, Cognitive impairment, Elevated circulating C-reactive protein concentration, ... |
ORPHA:673 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Amed Syndrome, Digenic |
|
Failure to thrive, Leukopenia, Long thumb, Attention deficit hyperactivity disorder, Acute myeloi... |
OMIM:619151 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Folate Malabsorption, Hereditary |
|
Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Irritability, Thrombocytop... |
OMIM:229050 |
| Langer Mesomelic Dysplasia |
|
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... |
OMIM:249700 |
| Bernard-Soulier Syndrome |
|
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... |
OMIM:231200 |
| Myh9-Related Disease |
|
Giant platelets, Congenital thrombocytopenia, Neutrophil inclusion bodies, Menorrhagia, Increased... |
ORPHA:182050 |
| Niemann-Pick Disease, Type B |
|
Mental deterioration, Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased ... |
OMIM:607616 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Failure to thrive, Elevated circulating creatine kinase concentration, Diap... |
OMIM:614727 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Wide nasal bridge, Small hand, Shallow acetabular fossae, Giant platelets, Ulnar deviation of fin... |
OMIM:611209 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Overlapping fingers, Radioulnar synostosis, Congenital thrombocytopenia, Neut... |
OMIM:616738 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Thrombocytopenia |
OMIM:166990 |
| Beta-Thalassemia |
|
Cholelithiasis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Irritability, Hypogonadotro... |
ORPHA:848 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregation, Menor... |
OMIM:617443 |
| Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Slc35A2-Cdg |
|
Precocious puberty, Aplasia/hypoplasia involving bones of the extremities, Short tibia, Elevated ... |
ORPHA:356961 |
| Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... |
ORPHA:1972 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Supernumerary nipple,... |
OMIM:605274 |
| Spermatogenic Failure 20 |
|
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
| Spermatogenic Failure 84 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:620409 |
| Mirage Syndrome |
|
Radial club hand, Lymphopenia, Overlapping fingers, Cryptorchidism, Decreased body weight, Talipe... |
OMIM:617053 |
| Spermatogenic Failure 65 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... |
OMIM:619712 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Isochromosomy Yq |
|
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... |
ORPHA:98798 |
| Lig4 Syndrome |
|
Wide nasal bridge, Failure to thrive, Pancytopenia, Plantar warts, Type II diabetes mellitus, Cry... |
OMIM:606593 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
| Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... |
ORPHA:98797 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Aggressive beh... |
ORPHA:208441 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neut... |
OMIM:615285 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto... |
ORPHA:93322 |
| Spermatogenic Failure 56 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:619515 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Megaloblastic anemia, Adducted thumb, Thrombocytopenia |
OMIM:601815 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:619689 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Anemia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:614082 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia, Menorrhagia |
OMIM:616176 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Wide nasal bridge, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pai... |
OMIM:201170 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu... |
OMIM:210250 |
| Babesiosis |
|
Depression, Confusion, Leukopenia, Splenomegaly, Clinodactyly of the 5th toe, Thrombocytopenia, A... |
ORPHA:108 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... |
OMIM:619217 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... |
OMIM:301059 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenomegaly, Throm... |
OMIM:610539 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Failure to thrive, Micrognathia, Cryptorchidism, Self-mutilation, Aggressive behavior, Hyperactiv... |
OMIM:604317 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cone-shaped epiphysis, Obesity, Congenital hypothyroidism, Cryptorchidism, Brachydactyly, Short m... |
OMIM:614613 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Elevated circulating creatine kinase concentration, Calf muscle hypertrophy,... |
OMIM:313200 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes insipidus, Di... |
OMIM:598500 |
| Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Gaucher Disease, Type Iii |
|
Progressive neurologic deterioration, Depression, Pancytopenia, Splenomegaly, Decreased body weig... |
OMIM:231000 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
| Leishmaniasis |
|
Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Weight l... |
ORPHA:507 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... |
OMIM:613673 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Preaxial foo... |
ORPHA:1988 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Failure to thrive, Thrombocytopenia |
ORPHA:67048 |
| Kennedy Disease |
|
Abnormal circulating lipid concentration, Decreased fertility, Type II diabetes mellitus, Testicu... |
ORPHA:481 |
| Acheiropody |
|
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... |
OMIM:200500 |
| Classic Galactosemia |
|
Mental deterioration, Depression, Hypoglycemia, Cryptorchidism, Attention deficit hyperactivity d... |
ORPHA:79239 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... |
OMIM:618858 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Splenomegaly, Thrombocytopenia, Irritability |
OMIM:615010 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Anorexia, Splenomegaly, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:79312 |
| Spermatogenic Failure 40 |
|
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... |
OMIM:619585 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... |
ORPHA:158057 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Ankle clonus, Thrombocytopenia, Neutropenia, Anemia,... |
OMIM:159550 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... |
OMIM:601559 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Menorrhagia, Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Reduced C-pe... |
OMIM:616329 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Short long bone, Thrombocytopenia, Camptodactyly, Dysphagia |
OMIM:619751 |
| Wolfram Syndrome 1 |
|
Limited mobility of proximal interphalangeal joint, Sideroblastic anemia, Hypothyroidism, Megalob... |
OMIM:222300 |
| Spermatogenic Failure 39 |
|
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... |
OMIM:618643 |
| Takenouchi-Kosaki Syndrome |
|
Wide nasal bridge, Clinodactyly, Proximal placement of thumb, Overlapping toe, Cryptorchidism, Ta... |
OMIM:616737 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Wide nasal bridge, Platelet anisocytosis, Overlapping toe, Thrombocytopenia, Increased mean plate... |
OMIM:620475 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Obesity, Irritability, Aggressive behavior, Hyperactivity, Anorex... |
ORPHA:3077 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr... |
OMIM:616050 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the odontoid process, Clinodactyly,... |
OMIM:305400 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt... |
OMIM:226990 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... |
ORPHA:98826 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Short tibia, Finger synda... |
ORPHA:1106 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Anorexia, Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus |
ORPHA:49827 |
| Smith-Kingsmore Syndrome |
|
Short distal phalanx of finger, Rhizomelia, Deep plantar creases, Hypoglycemia, Large for gestati... |
OMIM:616638 |
| Spermatogenic Failure 47 |
|
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Elevated circulating propionylcarnitine concentration, Micrognathia, Cryptorch... |
OMIM:614857 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly |
OMIM:246570 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Small hand, Sandal gap, Hypogonadism, Decreased testicular size, Pes cavus, Cryptorchidism, Emoti... |
OMIM:300354 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Attention deficit hyperactivity disorder, Oligozoospermia, Macroo... |
ORPHA:3000 |
| Lead Poisoning |
|
Depression, Memory impairment, Decreased male libido, Imbalanced hemoglobin synthesis, Decreased ... |
ORPHA:330015 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic anemia, Thrombocytopenia,... |
OMIM:249270 |
| Stt3B-Cdg |
|
Small scrotum, Failure to thrive, Cryptorchidism, Thrombocytopenia, Micropenis |
ORPHA:370924 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Cry... |
OMIM:609945 |
| Rhabdoid Tumor |
|
Irritability, Weight loss, Thrombocytopenia, Anemia, Hypercalcemia |
ORPHA:69077 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Small scrotum, Failure to thrive, Cryptorchidism, Thrombocytopenia, Micropenis |
OMIM:615597 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Failure to thrive,... |
OMIM:222470 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... |
ORPHA:67044 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, Decreased circ... |
OMIM:608104 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella |
OMIM:620196 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:612997 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:614822 |
| Aregenerative Anemia |
|
Depression, Fatigable weakness of skeletal muscles, Pancytopenia, Decreased proportion of CD4-pos... |
ORPHA:101096 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... |
OMIM:267700 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Clinodactyly, H... |
ORPHA:73272 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility |
OMIM:618670 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Impotence, Increased circulating ferritin concentration... |
OMIM:235200 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... |
ORPHA:3320 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas... |
OMIM:613845 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Wide nasal bridge, HbH hemoglobin, Failure to thrive, Short toe, Microcytic anemia, Micrognathia,... |
ORPHA:98791 |
| Wilson Disease |
|
Depression, Failure to thrive, Abnormality of the menstrual cycle, Splenomegaly, Increased body w... |
ORPHA:905 |
| Atelis Syndrome 1 |
|
Leukopenia, Attention deficit hyperactivity disorder, Hypothyroidism, Thrombocytopenia, Anemia |
OMIM:620184 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Depression, Goiter, Confusion, Leukocytosis, Hyponatremia, Hashimoto thyroiditis, Hypothyroidism,... |
ORPHA:83601 |
| Immunodeficiency 46 |
|
Anemia, Failure to thrive, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Specific Granule Deficiency 2 |
|
Failure to thrive, Sandal gap, Absent neutrophil specific granules, Brachydactyly, Thrombocytopen... |
OMIM:617475 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce... |
ORPHA:101028 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231226 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Confusion, Reticulocytosis, Thrombocytopenia, Decreased serum ... |
ORPHA:54057 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Short thumb, Male infertility, Absent radius, Pancytopenia, Cryptorchidism, Anemia,... |
OMIM:227650 |
| Preeclampsia |
|
Type I diabetes mellitus, Elevated circulating creatinine concentration, Polycystic ovaries, Thro... |
ORPHA:275555 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
| Congenital Toxoplasmosis |
|
Anemia, Failure to thrive in infancy, Cognitive impairment, Thrombocytopenia |
ORPHA:858 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl... |
ORPHA:465508 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Failure to thrive, Decreased FOXP3-expressing T cell count, Eosinophili... |
OMIM:304790 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocytic anemia, Elevated circulatin... |
OMIM:620501 |
| Thrombocytopenia 9 |
|
Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombopoietin concentration |
OMIM:620478 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligozoospermia, Male infertility |
OMIM:258150 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231214 |
| Isolated Agammaglobulinemia |
|
Failure to thrive, Abnormal lymphocyte morphology, Clinodactyly of the 5th toe, Thrombocytopenia,... |
ORPHA:229717 |
| Dk Phocomelia Syndrome |
|
Phocomelia, Thrombocytopenia |
OMIM:223340 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Depression, Restlessness, Abnormal fear-induced behavior, Confusion, A... |
ORPHA:100924 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Mody |
|
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... |
ORPHA:552 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired... |
ORPHA:811 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Pediatric-Onset Graves Disease |
|
Polydipsia, Failure to thrive, Graves disease, Goiter, Puberty and gonadal disorders, Splenomegal... |
ORPHA:525731 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Hypercalcemia, Abnormal vagina morphology, Thrombocytopenia |
ORPHA:2123 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Irritability, Weight loss, Thrombocytopenia, Anorexia |
ORPHA:79242 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Impotence, Dysphagia, Thrombocytopenia |
OMIM:615750 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... |
OMIM:308240 |
| Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... |
OMIM:620306 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Propionic Acidemia |
|
Failure to thrive, Hypoglycemia, Pancytopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia,... |
OMIM:606054 |
| Fanconi Anemia, Complementation Group T |
|
Short thumb, Pancytopenia, Duplication of thumb phalanx, Acute myeloid leukemia, Thrombocytopenia... |
OMIM:616435 |
| Overlap Myositis |
|
Finger swelling, Abnormal circulating lipid concentration, Leukopenia, Subluxation of the small j... |
ORPHA:206572 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Failure to thrive, Clinodactyly, Brachydactyly, Thrombocy... |
OMIM:618048 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:300946 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Short thumb, Absent radius, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia... |
OMIM:600901 |
| Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
| Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Lymphopenia, 11 pairs of ribs, Thrombocyto... |
OMIM:618624 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg... |
ORPHA:824 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Wide nasal bridge, Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduce... |
OMIM:301110 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Menorrhagia, Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Menorrhagia, Thrombocytopenia |
OMIM:613554 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... |
OMIM:620481 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... |
OMIM:613011 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... |
OMIM:258860 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:618462 |
| Cog4-Cdg |
|
Failure to thrive in infancy, Hepatosplenomegaly, Irritability, Hypercholesterolemia, Thrombocyto... |
ORPHA:263501 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:619828 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Cryptorchid... |
OMIM:616300 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Bent Bone Dysplasia Syndrome 2 |
|
Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing... |
OMIM:620076 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... |
OMIM:603553 |
| Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
| Shwachman-Diamond Syndrome 1 |
|
Failure to thrive, Proximal femoral epiphysiolysis, Persistence of hemoglobin F, Pancytopenia, Me... |
OMIM:260400 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Cognitive impairment, Male infertility |
ORPHA:276183 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Postaxial foot polydactyly, Talipes equinovalgus, Leukopenia, Overlapping fingers, Cryptorchidism... |
OMIM:301056 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
| Aggressive Systemic Mastocytosis |
|
Anorexia, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of ... |
ORPHA:98850 |
| Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Pancytope... |
OMIM:251110 |
| Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Increased mean corpuscular volume, Failure to thrive... |
OMIM:617052 |
| Chromosome Xq13 Duplication Syndrome |
|
Clinodactyly of the 5th finger, Emotional lability, Talipes equinovarus, Attention deficit hypera... |
OMIM:301069 |
| Acute Promyelocytic Leukemia |
|
Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Metrorrhagia, Addictive alcohol use, Weight los... |
ORPHA:520 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Congenital Rubella Syndrome |
|
Type I diabetes mellitus, Splenomegaly, Thrombocytopenia, Anemia, Abnormal metaphysis morphology |
ORPHA:290 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatosp... |
ORPHA:231222 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Immunodeficiency 114, Folate-Responsive |
|
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... |
OMIM:620603 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Hemolytic anemia, Thrombocytopenia, Genital ulcers |
OMIM:616744 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Acromesomelia, Self-injurious behavior, Clinodactyly, Failure to thrive in infancy, Bruxism, Ster... |
ORPHA:261323 |
| Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Postaxial foot polydactyly, Polydipsia, Hyperglycemia, Obesity, Polydacty... |
OMIM:615986 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
| 47,Xyy Syndrome |
|
Varicocele, Finger clinodactyly, Azoospermia, Cryptorchidism, Impulsivity, Attention deficit hype... |
ORPHA:8 |
| Prader-Willi Syndrome |
|
Small scrotum, Small hand, Clinodactyly, Decreased HDL cholesterol concentration, Hyperinsulinemi... |
OMIM:176270 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Micrognathia, Increased femoral anteversion, Cryptorchidism, Self-mutilation, Decreased body weig... |
OMIM:619005 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... |
OMIM:617021 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:99901 |
| Beemer-Ertbruggen Syndrome |
|
Wide nasal bridge, Micrognathia, Cryptorchidism, Ambiguous genitalia, Thrombocytopenia |
ORPHA:1237 |
| Aromatase Deficiency |
|
Insulin resistance, Delayed epiphyseal ossification, Female infertility, Male infertility, Ambigu... |
ORPHA:91 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Fanconi Anemia, Complementation Group D2 |
|
Aplasia of the 1st metacarpal, Annular pancreas, Absent thumb, Short thumb, Preaxial hand polydac... |
OMIM:227646 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... |
ORPHA:35858 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Hypoglycemia, Leukopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, N... |
OMIM:251000 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Irritability |
OMIM:612952 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia, Cognitive impairment |
OMIM:613909 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia |
ORPHA:289916 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
| Schimke Immunoosseous Dysplasia |
|
Wide nasal bridge, Shallow acetabular fossae, Elevated circulating thyroid-stimulating hormone co... |
OMIM:242900 |
| 16P12.1P12.3 Triplication Syndrome |
|
Short 5th finger, Failure to thrive, Prominent fingertip pads, Bilateral cryptorchidism, Decrease... |
ORPHA:485405 |
| Microcephaly-Micromelia Syndrome |
|
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... |
OMIM:251230 |
| Gaucher Disease Type 1 |
|
Splenic infarction, Elevated circulating CCL18 level, Cholelithiasis, Erlenmeyer flask deformity ... |
ORPHA:77259 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
| Omodysplasia 1 |
|
Wide nasal bridge, Rhizomelia, Short tibia, Limited knee flexion/extension, Limited knee flexion,... |
OMIM:258315 |
| Bone Marrow Failure Syndrome 4 |
|
Anemia, Leukopenia, Rhizomelia, Thrombocytopenia |
OMIM:618116 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Elevated circulating creatine kinase concentration, Thrombocytopenia, Hyperventil... |
OMIM:618775 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Lymphopenia, Cryptorchidism, Thrombocytopenia, Anemia |
OMIM:620365 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... |
ORPHA:96334 |
| Sengers Syndrome |
|
Premature ovarian insufficiency, Mental deterioration, Thrombocytopenia |
OMIM:212350 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Spermatogenic Failure 44 |
|
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... |
OMIM:619044 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Sandal gap, Cryptorchidism, Polyphagia, Paroxysmal bursts of laughter, H... |
ORPHA:228402 |
| Hyperlysinemia, Type I |
|
Hypoornithinemia, Short attention span, Hyperlysinemia, Hyperactivity, Cognitive impairment, Anemia |
OMIM:238700 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resista... |
OMIM:262190 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Monocyto... |
OMIM:619644 |
| Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Cri-Du-Chat Syndrome |
|
Wide nasal bridge, Microretrognathia, Oppositional defiant disorder, Cryptorchidism, Overfriendli... |
OMIM:123450 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Orofaciodigital Syndrome Ix |
|
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia |
OMIM:258865 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... |
OMIM:206920 |
| Omodysplasia 2 |
|
Wide nasal bridge, Broad femoral neck, Uterus didelphys, Short 1st metacarpal, Rhizomelic arm sho... |
OMIM:164745 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... |
ORPHA:232 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia, Irritability, 2-3 toe syndactyly, Aggressive behavior, Hyperactivity, Premature ovar... |
ORPHA:391307 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hyperammonemia, Irrita... |
ORPHA:292 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... |
OMIM:268305 |
| Omenn Syndrome |
|
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia... |
OMIM:603554 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... |
ORPHA:86839 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Micrognathia, Clinodactyly, Radial deviation of finger, Thrombocytopenia |
OMIM:188025 |
| Syndromic Diarrhea |
|
Wide nasal bridge, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Hypothyroidism, Thrombocy... |
ORPHA:84064 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
| Pearson Marrow-Pancreas Syndrome |
|
