Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... |
OMIM:618963 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... |
ORPHA:158048 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:619802 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, Ob... |
ORPHA:399805 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility |
OMIM:108420 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Multicentric femoral head ossification, Delayed femoral head ossification, Leukocytosis |
ORPHA:168621 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Elevated circulating C-reactive protein concentration, Cellulitis, Sterile abscess, Hepatosplenom... |
OMIM:604416 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Hypoalbuminemia, A... |
OMIM:209950 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Gaisböck Syndrome |
|
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Increased mean corpuscular he... |
ORPHA:90041 |
Mandibuloacral Dysplasia |
|
High palate, Hyperinsulinemia, Acroosteolysis of distal phalanges (feet), Increased circulating f... |
ORPHA:2457 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... |
ORPHA:86841 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... |
OMIM:210250 |
Pelger-Huet Anomaly |
|
Failure to thrive, Gingival overgrowth, Kyphosis, Median cleft palate, Abnormality of the dentiti... |
OMIM:169400 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Menorrhagia, Leuk... |
OMIM:155100 |
Alpha-Mannosidosis |
|
Dental malocclusion, Gingival overgrowth, Type II diabetes mellitus, Narrow palate, Kyphosis, Mac... |
ORPHA:61 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Anemia, Thromb... |
ORPHA:3319 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Cellulitis, Abnormally low T cell receptor excision circle level, Hepat... |
OMIM:618986 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... |
ORPHA:98798 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Developmental cataract, Gia... |
OMIM:153640 |
Lathosterolosis |
|
High palate, Anisopoikilocytosis, Schistocytosis, Short nose, Cataract, Hyperbilirubinemia, Micro... |
OMIM:607330 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Menorrhagia, Congenital thrombocytopenia, Increased mean platelet vo... |
ORPHA:182050 |
Multiple Myeloma |
|
Splenomegaly, Osteopenia, Hyperproteinemia, Elevated circulating creatinine concentration, Hyperc... |
ORPHA:29073 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Temple Syndrome |
|
High palate, Cleft palate, Small for gestational age, Maturity-onset diabetes of the young, Micro... |
OMIM:616222 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Primary amen... |
OMIM:612526 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Dental malocclusion, Multiple joint contractures, Hyperpigmented nevi, Selective tooth agenesis, ... |
ORPHA:2959 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Dental malocclusion, Cortical sclerosis, Back pain, Oste... |
ORPHA:210110 |
Takenouchi-Kosaki Syndrome |
|
Flared nostrils, Wide mouth, Dental malocclusion, Bulbous nose, Inguinal hernia, Short philtrum, ... |
OMIM:616737 |
Omenn Syndrome |
|
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... |
OMIM:603554 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Osteoporosis, Impaired glucose tolerance, Hypertriglyceridem... |
OMIM:610947 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619949 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Slc35A1-Cdg |
|
Cellulitis, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules |
ORPHA:238459 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... |
OMIM:267700 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion, Vertebral clefting, Depressed nasal bridge, Patchy distortion of vertebrae, ... |
OMIM:155050 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Menorrhagia, Macrothrombocytopenia, Giant plate... |
OMIM:231200 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Everted lower lip vermilion, Micrognathia, Camptodactyly of ... |
ORPHA:1466 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Everted lower lip vermilion, Delayed eruption of te... |
ORPHA:181393 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:614034 |
Mulibrey Nanism |
|
Dental malocclusion, Hypodontia, Depressed nasal bridge, Pigmentary retinopathy, Thickened cortex... |
OMIM:253250 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Celiac Disease, Susceptibility To, 1 |
|
Infertility, Failure to thrive, Hypocalcemia, Steatorrhea, Osteoporosis, Iron deficiency anemia, ... |
OMIM:212750 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Johanson-Blizzard Syndrome |
|
Failure to thrive, Hypoproteinemia, Abnormality of the dentition, Oligodontia, Abnormality of the... |
ORPHA:2315 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
Mental Retardation, Buenos Aires Type |
|
High palate, Failure to thrive, Dental malocclusion, Wide mouth, Fair hair, Blue irides, Carious ... |
OMIM:249630 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL ch... |
OMIM:615703 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Increased size of the mandible, Thrombocytopenia, Smooth philtrum |
OMIM:300048 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Primary Myelofibrosis |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... |
ORPHA:824 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Thrombocytosis, A... |
OMIM:615934 |
Immunodeficiency 92 |
|
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... |
OMIM:619652 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
High palate, Failure to thrive, Dental malocclusion, Micrognathia, Osteopenia, Elevated circulati... |
ORPHA:329178 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Kyphosis, Rod-cone dystrophy, Steatorrhea, Hypergonadotropic hypogonadism, Ost... |
OMIM:212065 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Dental malocclusion, Narrow mouth, Open bite, Depressed nasal bridge, Abnormality of... |
ORPHA:1327 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... |
ORPHA:83451 |
Schimke Immuno-Osseous Dysplasia |
|
Broad nasal tip, Depressed nasal bridge, Short neck, Platyspondyly, Abnormal proportion of naive ... |
ORPHA:1830 |
Poems Syndrome |
|
Sclerosis of skull base, Sclerosis of foot bone, Polycythemia, Papilledema, Thrombocytosis, Erect... |
ORPHA:2905 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, He... |
OMIM:603553 |
Cohen Syndrome |
|
Lumbar hyperlordosis, Macrodontia of permanent maxillary central incisor, High, narrow palate, Th... |
OMIM:216550 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
Mcdonough Syndrome |
|
Dental malocclusion, Kyphosis, Open bite, Cachexia, Short philtrum, Micrognathia, Scoliosis, Prom... |
ORPHA:2471 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
Trichohepatoenteric Syndrome 1 |
|
Failure to thrive, Wide mouth, Narrow mouth, Depressed nasal ridge, Splenomegaly, Generalized hyp... |
OMIM:222470 |
17Q21.31 Microduplication Syndrome |
|
High palate, Failure to thrive, Malar flattening, Micrognathia, Short philtrum, Abnormality of th... |
ORPHA:217340 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Cleft palate, Micrognathia, Short neck, Short nose, Anteverted nares, Abnormal vertebral morpholo... |
ORPHA:2015 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Flared nostrils, Wide mouth, Dental malocclusion, Bulbous nose, Flexion contracture, Inguinal her... |
ORPHA:487796 |
Dengue Fever |
|
Leukopenia, Thrombocytopenia, Hypoproteinemia |
ORPHA:99828 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
High palate, Kyphosis, Micrognathia, Long philtrum, Scoliosis, Short nose, Anemia |
ORPHA:2598 |
Hemochromatosis, Type 3 |
|
Amenorrhea, Increased circulating ferritin concentration, Impotence, Lymphopenia, Hypogonadotropi... |
OMIM:604250 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
Nephronophthisis |
|
Anemia, Abnormality of retinal pigmentation |
ORPHA:655 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Potocki-Lupski Syndrome |
|
High palate, Failure to thrive, Dental malocclusion, Wide mouth, Prominent nasal tip, Small for g... |
OMIM:610883 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho... |
OMIM:619868 |
Syndromic Diarrhea |
|
Lymphopenia, Inguinal hernia, Splenomegaly, Generalized hypopigmentation, Small for gestational a... |
ORPHA:84064 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Blackfan-Diamond Anemia |
|
High palate, Depressed nasal bridge, Short neck, Reticulocytopenia, Increased mean corpuscular vo... |
ORPHA:124 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... |
OMIM:212050 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Abnormal bone structure, Anemia, Splenomegaly |
ORPHA:46532 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, H... |
OMIM:615688 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Smith-Magenis Syndrome |
|
Velopharyngeal insufficiency, Malar flattening, Abnormality of the dentition, Retinal detachment,... |
OMIM:182290 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Hypoalbuminemia, Hypoproteinemia, Iron deficiency anemia |
OMIM:226300 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Dental malocclusion, Rod-cone dystrophy, Malar flattening, Patchy atrophy of the retinal pigment ... |
ORPHA:436245 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
Smith-Magenis Syndrome |
|
Cleft palate, Depressed nasal bridge, Short philtrum, Microcornea, Short nose, Tented upper lip v... |
ORPHA:819 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... |
ORPHA:167 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated circulating c... |
OMIM:616828 |
Leptospirosis |
|
Optic neuritis, Papilledema, Hyperproteinemia, Retinal hemorrhage, Chorioretinitis, Macular cotto... |
ORPHA:509 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Dental malocclusion, Wide mouth, Malar flattening, Everted lower lip vermilion, Micrognathia, Abn... |
ORPHA:85321 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Hyperammonemia, Hypoglycemia, Thrombocytosis, Hyperuricemia, Hyperglycemia |
ORPHA:134 |
Pycnodysostosis |
|
High palate, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Spondylolist... |
ORPHA:763 |
Short Syndrome |
|
Glucose intolerance, Dental malocclusion, Lipoatrophy, Hypodontia, Inguinal hernia, Small for ges... |
OMIM:269880 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Dental malocclusion, Malar flattening, Mottled pigmentation, Retinal dystrophy, Widely spaced teeth |
OMIM:616108 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Enamel hypoplasia, Thrombocytosis, Impaired ... |
OMIM:243150 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Narrow mouth, Corneal opacity, Reduced bone mineral density, Thin vermilion border, Scoliosis, Ab... |
ORPHA:2370 |
Rubinstein-Taybi Syndrome 2 |
|
High palate, Dental malocclusion, Narrow palate, Convex nasal ridge, Retrognathia, Micrognathia, ... |
OMIM:613684 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
High palate, Maturity-onset diabetes of the young, Micrognathia, Short philtrum, Scoliosis, Wide ... |
ORPHA:254531 |
Ramon Syndrome |
|
Failure to thrive, Abnormality of retinal pigmentation, Narrow palate, Abnormal anterior chamber ... |
ORPHA:3019 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Blue irides, Calvarial hyperostosis, Broad nasal tip, Depressed nasal bridge, Delayed eruption of... |
OMIM:101800 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Narrow mouth, Cleft palate, Small for gestational age, Maturity-onset diabetes of th... |
ORPHA:96184 |
Fanconi Anemia, Complementation Group S |
|
Thick upper lip vermilion, Dental malocclusion, Failure to thrive, Narrow palate, Macrodontia, An... |
OMIM:617883 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Pigmentary retinopathy, Neutropenia |
OMIM:266130 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Alveolar ridge overgrowth, Hypocalcemia, Hypoproteinemia, Splenomegaly, Cleft palate... |
OMIM:235255 |
Liberfarb Syndrome |
|
Delayed epiphyseal ossification, Retinal degeneration, Retinal pigment epithelial mottling, Scoli... |
OMIM:618889 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Malar flattening, Retr... |
ORPHA:1390 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Hyperinsulinemia, Abnormal retinal vascular morphology, Type... |
ORPHA:791 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Nuclear cataract, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Increased... |
ORPHA:79237 |
Laron Syndrome |
|
Tooth agenesis, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Micrognathia, Hypop... |
ORPHA:633 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Lymphocytosis, Iron deficiency anemia, Thr... |
OMIM:301074 |
Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Lumbar hyperlordosis, Broad nasal tip, Scoliosis, Incisor macrodontia, Cafe-... |
OMIM:619719 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen... |
ORPHA:52901 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Kyphosis, Short mandibular rami, Poliosis, Delayed eruption of teeth, Tongue... |
OMIM:141300 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Bone marrow hypocellularity, Refractory anemia, Acute myeloid leukemia |
OMIM:616871 |
Winchester Syndrome |
|
Kyphosis, Gingival overgrowth, Corneal opacity, Osteolysis involving tarsal bones, Carpal osteoly... |
OMIM:277950 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Dental malocclusion, Irregular vertebral endplates, Kyphoscoliosis, Hypodontia, Join... |
OMIM:612350 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Long philtrum, Short nose, Microretrognathia |
OMIM:218010 |
Mccune-Albright Syndrome |
|
Dental malocclusion, Monostotic fibrous dysplasia, Hypophosphatemia, Fibrous dysplasia of the bon... |
ORPHA:562 |
Diamond-Blackfan Anemia 1 |
|
High palate, Failure to thrive, Cleft upper lip, Cleft palate, Congenital hypoplastic anemia, Ret... |
OMIM:105650 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Abnormality of retinal pigmentation, Macular degeneration, Retinopathy, Scoliosis, Gene... |
ORPHA:816 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Impotence, Impaired glucose to... |
OMIM:606069 |
Galactosialidosis |
|
Abnormal vertebral morphology, Corneal opacity, Abnormality of the vertebral column, Cherry red s... |
ORPHA:351 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytosis, Nonketotic hypoglycemia, Hyperuricemia,... |
ORPHA:20 |
Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... |
OMIM:614669 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Lysosomal Acid Lipase Deficiency |
|
Increased LDL cholesterol concentration, Splenomegaly, Steatorrhea, Hepatosplenomegaly, Leukopeni... |
OMIM:278000 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... |
ORPHA:477781 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Hypogonadotropic hypogonadism, A... |
ORPHA:848 |
Noonan Syndrome 4 |
|
Dental malocclusion, Wide mouth, Blue irides, Depressed nasal bridge, Short neck, Scoliosis, Larg... |
OMIM:610733 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Failure to thrive, Hyperinsulinemia, Bone cyst, Macroglossia, Increased C-peptide lev... |
ORPHA:528 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Congenital Rubella Syndrome |
|
Corneal opacity, Abnormality of retinal pigmentation, Splenomegaly, Aplasia/Hypoplasia of the iri... |
ORPHA:290 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Corneal opacity, Butterfly vertebrae, Hypodontia, Small for gestational age, Retrognathia, Optic ... |
OMIM:301056 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Cohen Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum, Macrodontia, Opti... |
ORPHA:193 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... |
OMIM:144750 |
Sialidosis Type 2 |
|
Kyphosis, Corneal opacity, Flexion contracture, Splenomegaly, Inguinal hernia, Abnormal macular m... |
ORPHA:87876 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Megalocornea-Intellectual Disability Syndrome |
|
High palate, Kyphosis, Everted lower lip vermilion, Abnormal anterior chamber morphology, Microgn... |
ORPHA:2479 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Premature loss of teeth, Periodontitis, Lymphopenia, Rhinitis, Cellulitis, Osteopenia, Eosinophil... |
ORPHA:486 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Dental malocclusion, Wide mouth, Flexion contracture, Short philtrum, Scoliosis, Microdontia, Ena... |
OMIM:619293 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H... |
ORPHA:94093 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Failure to thrive, Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central ... |
OMIM:257850 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
High palate, Reduced subcutaneous adipose tissue, Hyperinsulinemia, Osteopenia, Mottled pigmentat... |
OMIM:248370 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Scoliosis, Pigme... |
ORPHA:370968 |
Seckel Syndrome 1 |
|
High palate, Dental malocclusion, Convex nasal ridge, Cleft palate, Micrognathia, Scoliosis, Enam... |
OMIM:210600 |
Zimmermann-Laband Syndrome |
|
High palate, Wide mouth, Bulbous nose, Supernumerary tooth, Hypodontia, Cleft palate, Splenomegal... |
ORPHA:3473 |
Congenital Toxoplasmosis |
|
Anemia, Thrombocytopenia, Failure to thrive in infancy, Abnormality of retinal pigmentation |
ORPHA:858 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Opacification of the corneal stroma, Hemolytic anemia, H... |
OMIM:245900 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Dental malocclusion, Kyphoscoliosis, Prominent nose |
OMIM:615541 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Secondary amenorrhea, Hypercholesterolemia |
OMIM:301033 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Sinusitis, Macroglossia, Malar flattening, Micrognathia, Depressed nasal bridg... |
OMIM:242860 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Glucose intolerance, Anemia, Splenomegaly |
ORPHA:75563 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Splenomegaly, Menorrhagia, Hemolytic anemia, Increased mean platelet volume, Stomatocytosis |
OMIM:153670 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Elevated circulating creatine kinase concentration, Pigmentary retinopathy |
OMIM:617613 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Immunodeficiency 91 And Hyperinflammation |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatosple... |
OMIM:619644 |
Mucolipidosis Type Iii |
|
Corneal opacity, Cleft palate, Reduced bone mineral density, Inguinal hernia, Abnormal form of th... |
ORPHA:577 |
Hamamy Syndrome |
|
High palate, Dental malocclusion, Wide mouth, Hypodontia, Inguinal hernia, Hypochromic anemia, Ev... |
OMIM:611174 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Dental malocclusion, Mandibular prognathia, Anteverted nares, High palate |
OMIM:618292 |
Poikiloderma With Neutropenia |
|
Reticular hyperpigmentation, Splenomegaly, Retrognathia, Micrognathia, Leukopenia, Elevated circu... |
OMIM:604173 |
Craniosynostosis 3 |
|
Dental malocclusion, Sagittal craniosynostosis, Left unicoronal synostosis, Right unicoronal syno... |
OMIM:615314 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Congenital Disorder Of Glycosylation, Type Iu |
|
High palate, Micrognathia, Elevated circulating creatine kinase concentration, Scoliosis, Optic a... |
OMIM:615042 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly |
ORPHA:75234 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Immunodeficiency 104 |
|
T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Lethal Osteosclerotic Bone Dysplasia |
|
Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Short neck, Gingival fibr... |
ORPHA:1832 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
Myopathy, Myofibrillar, 8 |
|
High palate, Dental malocclusion, Spinal rigidity, Micrognathia, Elevated circulating creatine ki... |
OMIM:617258 |
Cockayne Syndrome Type 1 |
|
Failure to thrive, Widely spaced primary teeth, Anodontia, Hypermelanotic macule, Increased blood... |
ORPHA:90321 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
High palate, Hyperinsulinemia, Mottled pigmentation, Acroosteolysis of distal phalanges (feet), S... |
OMIM:608612 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, B lymphocytopenia, Lipodystrophy, Increase... |
OMIM:618048 |
Cog4-Cdg |
|
Hepatosplenomegaly, Thrombocytopenia, Hypercholesterolemia |
ORPHA:263501 |
Maxillonasal Dysplasia |
|
Tooth agenesis, Cleft palate, Open bite, Vertebral clefting, Depressed nasal ridge, Depressed nas... |
ORPHA:1248 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Sialidosis Type 1 |
|
Kyphosis, Corneal opacity, Cherry red spot of the macula, Splenomegaly, Retinopathy, Scoliosis, A... |
ORPHA:812 |
Schimke Immunoosseous Dysplasia |
|
Bulbous nose, Lumbar hyperlordosis, Lymphopenia, Hypermelanotic macule, Small for gestational age... |
OMIM:242900 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Wide mouth, Kyphosis, Everted lower lip vermilion, Short philtrum, Scoliosis, Truncal obesity, Sh... |
ORPHA:2429 |
Cardiofaciocutaneous Syndrome 1 |
|
High palate, Bulbous nose, Abnormality of the dentition, Osteopenia, Short neck, Depressed nasal ... |
OMIM:115150 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental malocclusion, Wide mouth, Gingival overgrowth, Kyphoscoliosis, Triangular mouth, Cleft pal... |
OMIM:616331 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Abnormal bone ossification, Increased bone mineral density, Cleft palate, Micrognath... |
ORPHA:163649 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Pierpont Syndrome |
|
Failure to thrive, Decreased body weight, Prominent median palatal raphe, Long upper lip, Everted... |
OMIM:602342 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Retinal pigment epithelial mottling, Carious teeth, Optic at... |
OMIM:216400 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... |
ORPHA:169154 |
Eem Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy, Microdontia, Abnormality of dental morphology, ... |
ORPHA:1897 |
Cri-Du-Chat Syndrome |
|
High palate, Microretrognathia, Inguinal hernia, Small for gestational age, Short philtrum, Short... |
OMIM:123450 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology |
OMIM:612529 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Dental malocclusion, Kyphosis, Abnormality of the dentition, Scoliosis, Mandibular prognathia |
ORPHA:1858 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:616950 |
Cartilage-Hair Hypoplasia |
|
Failure to thrive, Gingival overgrowth, Hypocalcemia, Abnormality of retinal pigmentation, Abnorm... |
ORPHA:175 |
Ménétrier Disease |
|
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cheilitis, Generalized hypopigmentation, Hypoammonemia, Abnormality of the dentition, Platyspondy... |
ORPHA:534 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Splenomegaly, Ketotic hypoglycemia, Irregular menstruation, Oligomenorrhea, Elevate... |
ORPHA:79240 |
Sclerosteosis 1 |
|
Cortically dense long tubular bones, Dental malocclusion, Tooth malposition, Malar flattening, Pa... |
OMIM:269500 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
High palate, Failure to thrive, Kyphoscoliosis, Flexion contracture, Retrognathia, Buphthalmos, O... |
OMIM:618005 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Depressed nasal bridge, Hypoplasia of the thymus, Decreased proportion... |
OMIM:617241 |
Developmental And Epileptic Encephalopathy 73 |
|
Failure to thrive, Flexion contracture, Inguinal hernia, Scoliosis, Narrow nasal bridge, Short no... |
OMIM:618379 |
Immunodeficiency 105 |
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Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
Brucellosis |
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Failure to thrive, Orchitis, Elevated circulating C-reactive protein concentration, Leukocytosis,... |
ORPHA:1304 |
Gm1 Gangliosidosis |
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Depressed nasal ridge, Broad nasal tip, Depressed nasal bridge, Platyspondyly, Optic atrophy, Man... |
ORPHA:354 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
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Malar flattening, Retrognathia, Broad nasal tip, Short nose, Open mouth, Obesity, Failure to thri... |
OMIM:613670 |
Cockayne Syndrome B |
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Reduced subcutaneous adipose tissue, Microcornea, Carious teeth, Optic atrophy, Mandibular progna... |
OMIM:133540 |
Doors Syndrome |
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High palate, Bulbous nose, Macrodontia of permanent maxillary central incisor, Cleft palate, Abno... |
ORPHA:79500 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Kyphosis, Abnormality of retinal pigmentation, Hyperinsulinemia, Type II diabetes mellitus, Hyper... |
ORPHA:3085 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
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Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Macrothrombocytopenia |
OMIM:124900 |
Non-Distal Trisomy 10Q |
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High palate, Convex nasal ridge, Everted lower lip vermilion, Micrognathia, Depressed nasal bridg... |
ORPHA:1695 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
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Corneal opacity, Myopic astigmatism, Broad nasal tip, Depressed nasal bridge, Retinal detachment,... |
OMIM:152950 |
Ring Chromosome Y Syndrome |
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Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
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High palate, Dental malocclusion, Failure to thrive, Anodontia, Supernumerary tooth, Narrow palat... |
OMIM:264475 |
Immunodeficiency 14A, Autosomal Dominant |
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Cellulitis, Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cell... |
OMIM:615513 |
D-Glyceric Aciduria |
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Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Amelogenesis Imperfecta |
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Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Abnormality of retinal pigmentation, Lumbar hyperlordosis, Macroglossia, Flexion contracture, Leu... |
ORPHA:505248 |
Bleeding Disorder, Platelet-Type, 19 |
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Anemia, Menorrhagia, Macrothrombocytopenia |
OMIM:616176 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
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Failure to thrive, Flexion contracture, Retrognathia, Open mouth, Broad nasal tip, Recurrent uppe... |
ORPHA:391372 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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High palate, Alveolar ridge overgrowth, Hypocalcemia, Hypoproteinemia, Splenomegaly, Inguinal her... |
ORPHA:1655 |
Hepatocellular Carcinoma |
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Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Polycythemia, Hypoglycemia, Thrombocy... |
ORPHA:88673 |
Neutrophil Immunodeficiency Syndrome |
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Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Intellectual Disability, Buenos-Aires Type |
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High palate, Dental malocclusion, Open bite, Reduced bone mineral density, Abnormality of dental ... |
ORPHA:3079 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
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Dental malocclusion, Mandibular prognathia, High palate, Arthrogryposis multiplex congenita |
OMIM:608931 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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High palate, Retrognathia, Depressed nasal bridge, Short nose, Anteverted nares |
OMIM:614069 |
Short Syndrome |
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Corneal opacity, Abnormal pupil morphology, Malar flattening, Inguinal hernia, Abnormal anterior ... |
ORPHA:3163 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Bulbous nose, Craniosynostosis, Long nose, Depressed nasal bridge, Severe platyspondyly, Short no... |
ORPHA:508533 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hyperglycemia, Leukocytosis, Hypercholesterolemia |
ORPHA:90065 |
Momo Syndrome |
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High palate, Dental malocclusion, Taurodontia, Retinal coloboma, Short neck, Long philtrum, Delay... |
OMIM:157980 |
Retinitis Pigmentosa 36 |
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Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Dysmenorrhea, Splenomegaly, Oligomenorrhea, Irregular menstruation, Abnormal erythrocyte enzyme l... |
ORPHA:264580 |
Hemochromatosis, Type 2B |
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Increased circulating ferritin concentration, Splenomegaly, Secondary amenorrhea, Increased serum... |
OMIM:613313 |
Harel-Yoon Syndrome |
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Corneal opacity, Micrognathia, Scoliosis, Optic atrophy, Short nose, Developmental cataract, Mand... |
OMIM:617183 |
Hemoglobin H Disease |
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Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Distal Myopathy, Tateyama Type |
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Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Intellectual Developmental Disorder, X-Linked 58 |
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Dental malocclusion, Short philtrum |
OMIM:300210 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
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Rod-cone dystrophy, Depressed nasal bridge, Pigmentary retinopathy, Optic atrophy, Wide nasal bridge |
OMIM:264470 |
Cockayne Syndrome |
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Reduced subcutaneous adipose tissue, Corneal ulceration, Band keratopathy, Retinal degeneration, ... |
ORPHA:191 |
Acute Myelomonocytic Leukemia |
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Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
Hurler Syndrome |
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Retinal degeneration, Calvarial hyperostosis, Broad nasal tip, Depressed nasal bridge, Short neck... |
OMIM:607014 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Hypocalcemia, Hypoproteinemia, Hyperammonemia, Small for gestational age, Hypoketotic hypoglycemi... |
ORPHA:26793 |
Methemoglobinemia, Beta Type |
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Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Methemoglobinemia |
OMIM:617973 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
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Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Macrocephaly/Autism Syndrome |
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Lymphopenia, Splenomegaly, Depressed nasal bridge, Long philtrum, Short nose, Obesity |
OMIM:605309 |
Harrod Syndrome |
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High palate, Dental malocclusion, Failure to thrive, Narrow mouth, Kyphosis, Long nose, Scoliosis... |
ORPHA:2115 |
Acrootoocular Syndrome |
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Failure to thrive, Dental malocclusion, Hyperpigmented nevi, Supernumerary tooth, High, narrow pa... |
ORPHA:2980 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Osteopenia, Carious teeth, Hyperuricemia, Abnormal myeloid leukocyte morphology, Irregular menstr... |
ORPHA:79259 |
Schwartz-Jampel Syndrome |
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High palate, Pursed lips, Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly,... |
ORPHA:800 |
Mental Retardation, X-Linked 91 |
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High palate, Obesity, Short nose, Macrodontia |
OMIM:300577 |
14Q11.2 Microdeletion Syndrome |
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High palate, Narrow mouth, Everted lower lip vermilion, Micrognathia, Depressed nasal bridge, Lon... |
ORPHA:261120 |
Megalocornea-Mental Retardation Syndrome |
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High palate, Micrognathia, Osteopenia, Megalocornea, Long philtrum, Bifid uvula, Depressed nasal ... |
OMIM:249310 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Kyphoscoliosis, Lumbar hyperlordosis, Delayed ossification of carpal bones, Bulbous nose, Malar f... |
OMIM:271510 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Ring Chromosome 14 Syndrome |
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High palate, Depressed nasal ridge, Depressed nasal bridge, Short neck, Pigmentary retinopathy, A... |
OMIM:616606 |
Leukodystrophy, Hypomyelinating, 24 |
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Cataract, Flexion contracture, B lymphocytopenia |
OMIM:619851 |
Lcat Deficiency |
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Corneal opacity, Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol... |
ORPHA:650 |
Diamond-Blackfan Anemia 8 |
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Increased mean corpuscular volume, Thick upper lip vermilion, Macrocytic anemia, Short nose, Neut... |
OMIM:612563 |
Bardet-Biedl Syndrome 13 |
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Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood vessels, Rod-cone ... |
OMIM:615990 |
Three M Syndrome 2 |
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High palate, Dental malocclusion, Lumbar hyperlordosis, Prominent nasal tip, Malar flattening, Sm... |
OMIM:612921 |
Momo Syndrome |
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High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Abnormal bone ossificat... |
ORPHA:2563 |
Oliver-Mcfarlane Syndrome |
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Retinal degeneration, Small for gestational age, Hypogonadotropic hypogonadism, Pigmentary retino... |
OMIM:275400 |
Leigh Syndrome With Leukodystrophy |
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Optic atrophy, Failure to thrive, Anemia, Pigmentary retinopathy |
ORPHA:255241 |
Immunodeficiency 102 |
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Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... |
OMIM:301082 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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High palate, Failure to thrive, Malar flattening, Flexion contracture, Retrognathia, Micrognathia... |
ORPHA:98791 |
Central Areolar Choroidal Dystrophy |
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Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
Bernard-Soulier Syndrome |
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Impaired ristocetin-induced platelet aggregation, Menorrhagia, Decreased platelet glycoprotein Ib... |
ORPHA:274 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Failure to thrive, Joint contracture of the hand, Elevated circulating long chain fatty acid conc... |
OMIM:214110 |
Aceruloplasminemia |
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Increased circulating ferritin concentration, Abnormality of retinal pigmentation, Diabetes melli... |
ORPHA:48818 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
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Large for gestational age, Corneal opacity, Median cleft palate, Microcornea |
ORPHA:2432 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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Conjunctivitis, B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
Cleft Lip-Retinopathy Syndrome |
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Retinopathy, Abnormality of retinal pigmentation, Non-midline cleft lip |
ORPHA:1995 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
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High palate, Dental malocclusion, Narrow mouth, Lumbar hyperlordosis, Convex nasal ridge, Cleft p... |
ORPHA:251028 |
Choroidal Dystrophy, Central Areolar, 1 |
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Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... |
OMIM:618849 |
Mcdonough Syndrome |
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Dental malocclusion, Kyphoscoliosis, Micrognathia, Short philtrum, Furrowed tongue, Prominent nos... |
OMIM:248950 |
Cogan Syndrome |
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Keratitis, Leukocytosis, Thrombocytosis, Anemia, Conjunctivitis |
ORPHA:1467 |
Agammaglobulinemia 8A, Autosomal Dominant |
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B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Increased circulating ferritin concentration, Hypoplasia of the thymus, B lymphocytopenia, T lymp... |
OMIM:619313 |
Stickler Syndrome Type 1 |
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Cleft palate, Retinal detachment, Long philtrum, Platyspondyly, Abnormality of vertebral epiphysi... |
ORPHA:90653 |
Autoerythrocyte Sensitization Syndrome |
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Impaired platelet adhesion, Menorrhagia, Autoimmune thrombocytopenia, Thrombocytosis, Abnormal er... |
ORPHA:324636 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Failure to thrive, Sinusitis, Lymphopenia, Recurrent upper respiratory tract infections, B lympho... |
ORPHA:277 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Decreased body weight, Rod-cone dystrophy, Abetalipoproteinemia, Elevated circulating creatine ki... |
ORPHA:96180 |
Leber Congenital Amaurosis 13 |
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Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Lead Poisoning |
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Infertility, Decreased male libido, Increased LDL cholesterol concentration, Reduced sperm motili... |
ORPHA:330015 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Dental malocclusion, Persistence of primary teeth, Malar flattening, Ectopia pupillae, Oligodonti... |
OMIM:618727 |
Scheie Syndrome |
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Corneal opacity, Spondylolisthesis, Retinal degeneration, Depressed nasal bridge, Short neck, Wid... |
OMIM:607016 |
Mu-Heavy Chain Disease |
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Splenomegaly, Osteoporosis, Abnormal B cell count, Osteolysis, Anemia |
ORPHA:100024 |
Coffin-Lowry Syndrome |
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High palate, Wide mouth, Depressed nasal bridge, Delayed eruption of teeth, Advanced eruption of ... |
ORPHA:192 |
Abetalipoproteinemia |
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Failure to thrive, Abnormal circulating apolipoprotein concentration, Abnormality of retinal pigm... |
ORPHA:14 |
Spinocerebellar Ataxia Type 32 |
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Azoospermia, Testicular atrophy, Male infertility |
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