Medial Condensing Osteitis Of The Clavicle |
|
Elevated circulating C-reactive protein concentration, Limited shoulder movement, Patchy reductio... |
ORPHA:57196 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Hyaline Fibromatosis Syndrome |
|
Progressive flexion contractures, Osteoporosis, Osteolysis, Osteopenia |
OMIM:228600 |
Isochromosomy Yp |
|
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Xanthoma Disseminatum |
|
Osteolysis |
ORPHA:158003 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Winchester Syndrome |
|
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize... |
OMIM:277950 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia |
OMIM:606762 |
Familial Expansile Osteolysis |
|
Thin bony cortex, Osteolysis, Pathologic fracture |
OMIM:174810 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Foot acroosteolysis |
ORPHA:970 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Ptosis, Elev... |
ORPHA:171706 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... |
OMIM:261550 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis |
ORPHA:2776 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Obesity |
OMIM:615703 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Juvenile Hyaline Fibromatosis |
|
Joint stiffness, Progressive flexion contractures, Osteolysis |
ORPHA:2028 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615271 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Mu-Heavy Chain Disease |
|
Osteoporosis, Osteolysis |
ORPHA:100024 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Dermatoosteolysis, Kirghizian Type |
|
Joint contracture of the hand, Flexion contracture, Osteolysis |
OMIM:221810 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Rosaï-Dorfman Disease |
|
Osteolysis |
ORPHA:158014 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Gorham-Stout Disease |
|
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat... |
ORPHA:73 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
OMIM:609655 |
Adrenal Hypoplasia, Congenital |
|
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Dehydr... |
OMIM:300200 |
Bloom Syndrome |
|
Chromosome breakage, Type II diabetes mellitus, Abnormality of chromosome stability, Cutaneous ph... |
OMIM:210900 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... |
ORPHA:324575 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Osteopenia |
OMIM:619256 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... |
OMIM:612926 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Metacarpal osteolysis, Limitation of joint mobility, Camptodactyly of finger, Carpal osteolysis, ... |
ORPHA:2774 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glycosuria |
OMIM:614817 |
Osteosarcoma |
|
Osteolysis, Pathologic fracture |
ORPHA:668 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insulin response to ... |
ORPHA:276580 |
Keratoderma Hereditarium Mutilans |
|
Osteolysis |
ORPHA:494 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... |
ORPHA:90044 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia, Excessive ins... |
ORPHA:276575 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone cyst, Hypophosphatemia, Abnormal bone structure, Osteomalacia, Coarse metaphyseal trabecular... |
ORPHA:93160 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Ramon Syndrome |
|
Osteolysis |
ORPHA:3019 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... |
ORPHA:293964 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
Tenosynovial Giant Cell Tumor |
|
Joint stiffness, Localized osteoporosis, Limitation of joint mobility, Osteolysis |
ORPHA:66627 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Ollier Disease |
|
Joint stiffness, Osteolysis |
ORPHA:296 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
N Syndrome |
|
Hypospadias, Leukemia, Cryptorchidism, Abnormality of chromosome stability |
OMIM:310465 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28, Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Bilateral ptosis, Elevated circulating creatinine concentration... |
ORPHA:230 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia |
ORPHA:71529 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Hyperostosis, Arthritis, Osteomyelitis, Craniofacial osteosclerosis, Elevated circulating C-react... |
ORPHA:324964 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Increased susceptibility to fractures, Pathol... |
ORPHA:52430 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... |
OMIM:241520 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Ataxia-Telangiectasia |
|
Type II diabetes mellitus, Abnormality of chromosome stability, Failure to thrive, Polycystic ova... |
ORPHA:100 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... |
ORPHA:231111 |
Preeclampsia |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Type I diabetes mellitus |
ORPHA:275555 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Increased circulating cortic... |
OMIM:610600 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Elevated circulating creatinin... |
OMIM:235400 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteolysis, Generalized osteoporosis |
OMIM:176670 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia, Congenital hypothyroidism, Precocious puberty |
OMIM:614736 |
Methemoglobinemia And Ambiguous Genitalia |
|
Hypospadias, Bifid scrotum, Methemoglobinemia, Micropenis, Ambiguous genitalia, Cyanosis, Male ps... |
OMIM:250790 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Infantile Myofibromatosis |
|
Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis |
ORPHA:2591 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... |
ORPHA:8 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration,... |
OMIM:274150 |
Desmoid Tumor |
|
Limitation of joint mobility, Osteolysis |
ORPHA:873 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Ovarian neoplasm, Anemia, Failure to thrive |
OMIM:617883 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Periostitis, Osteomyelitis, Fused cervical vertebrae, Osteopenia, Elevated circulating C-reactive... |
OMIM:612852 |
Plin1-Related Familial Partial Lipodystrophy |
|
Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus at puberty, Hyper... |
ORPHA:280356 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteolysis involving bones of the lower limbs, Increased susceptibility to fractures, Osteolysis ... |
ORPHA:371428 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Pure red cell aplasia, Anemia, Hypogonadism |
OMIM:618165 |
Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia |
OMIM:240200 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Small for gestational age, Leukemia, Anemia, Chromosomal breakage induced by crossli... |
OMIM:227650 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility |
ORPHA:481 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Telangiectasia, Amenorrhea, Azoospermia, Ascites, Hypogonadotropic hypogonadi... |
OMIM:235200 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulinemic hypoglyce... |
ORPHA:276556 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Thrombocytopenia, Decreased serum creatinine, Microangiopathic hemolytic anemia |
ORPHA:54057 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Osteoarthritis, Osteolysis |
ORPHA:1657 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
Perlman Syndrome |
|
Ptosis, Short nose, Epicanthus, Wide nasal bridge, Hyperinsulinemia |
ORPHA:2849 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decreased mean corp... |
OMIM:615234 |
Hip Dysplasia, Beukes Type |
|
Abnormality of bone mineral density, Abnormal bone ossification, Osteoarthritis, Abnormal ossific... |
ORPHA:2114 |
Gnathodiaphyseal Dysplasia |
|
Increased susceptibility to fractures, Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis |
OMIM:166260 |
Frank-Ter Haar Syndrome |
|
Joint stiffness, Camptodactyly of finger, Osteolysis |
ORPHA:137834 |
Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Maternal diabetes, Insulin-resistant diabetes mellitus, ... |
OMIM:604367 |
Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Increased susceptibility to fractures, Osteolysis |
OMIM:602080 |
Maffucci Syndrome |
|
Recurrent fractures, Osteolysis |
ORPHA:163634 |
Immunodeficiency 54 |
|
Chromosome breakage, Adrenal insufficiency, Failure to thrive, Splenomegaly, Reduced natural kill... |
OMIM:609981 |
Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Elevated serum 11-deoxycorti... |
ORPHA:556037 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Classic Hodgkin Lymphoma |
|
Osteolysis |
ORPHA:391 |
Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... |
OMIM:177735 |
Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Small for gestational age, Leukemia, Anemia, Chromosomal breakage induced by crossli... |
OMIM:600901 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis |
OMIM:607665 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia, Pseudohypoaldosteronism |
OMIM:145260 |
Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Elevated serum 11-deoxycorti... |
ORPHA:556030 |
Myotonic Dystrophy 2 |
|
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... |
OMIM:602668 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism |
OMIM:314300 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... |
OMIM:264350 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Sple... |
ORPHA:848 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Fa... |
ORPHA:2298 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... |
ORPHA:71526 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Increased circulating renin level, Hyponat... |
OMIM:203400 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... |
ORPHA:91351 |
Retinitis Pigmentosa |
|
Hypogonadism, Wide nasal bridge, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:791 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Micropenis, Anemia, Abnormality of chromosome stability |
OMIM:614083 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Hemolytic anemia, Splenomegaly |
OMIM:608885 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Diabetes mellitus, Insulin resistance |
ORPHA:79084 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia |
OMIM:618300 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... |
OMIM:618086 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise |
ORPHA:57 |
Hemochromatosis, Type 2A |
|
Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly |
OMIM:602390 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... |
ORPHA:90797 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... |
ORPHA:91547 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Failure to thrive, Chromosomal breakage induced by crosslinking agents, Decreased body weight |
OMIM:619060 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Azoospermia |
ORPHA:2183 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614495 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal ... |
ORPHA:90153 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Acroosteolysi... |
ORPHA:90154 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Petechiae, Weight loss, Anemia, Hypogonadism, Abnormal testis morphology, Primary t... |
ORPHA:85450 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level |
OMIM:300539 |
Spermatogenic Failure 4 |
|
Recurrent spontaneous abortion, Azoospermia |
OMIM:270960 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... |
ORPHA:432 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Lead Poisoning |
|
Oligospermia, Abnormal sperm morphology, Decreased circulating osteocalcin level, Infertility, Im... |
ORPHA:330015 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... |
ORPHA:97279 |
Galactokinase Deficiency |
|
Hypergalactosemia, Hypoglycemia, Hypercholesterolemia, Hepatosplenomegaly, Hypergonadotropic hypo... |
ORPHA:79237 |
Fanconi Anemia, Complementation Group F |
|
Leukopenia, Failure to thrive, Decreased response to growth hormone stimulation test, Anemia, Pol... |
OMIM:603467 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Abnormal circulati... |
ORPHA:263455 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Small for gestational age, Leukemia, Anemia, Chromosomal breakage induced by crossli... |
OMIM:227645 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Thin bony cortex, Fibrous dysplasia of the bones, Rickets, Hypophosphatemia, Abnor... |
ORPHA:249 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Episodic hemolytic anemia, Hypercalcemia, Delayed puberty |
ORPHA:251004 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Ankylosis, Osteolysis |
ORPHA:659 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Fanconi Anemia, Complementation Group D1 |
|
Failure to thrive, Chromosomal breakage induced by crosslinking agents, T-cell acute lymphoblasti... |
OMIM:605724 |
Classic Galactosemia |
|
Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1, Ascites, Male... |
ORPHA:79239 |
Felty Syndrome |
|
Arthritis, Synovitis, Limitation of joint mobility, Osteolysis |
ORPHA:47612 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, An... |
ORPHA:447 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614496 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Aggressive Systemic Mastocytosis |
|
Osteoporosis, Osteolysis, Pathologic fracture |
ORPHA:98850 |
Gaucher Disease Type 1 |
|
Osteopenia, Pathologic fracture, Increased bone mineral density, Osteoarthritis, Osteolysis |
ORPHA:77259 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Androgen insufficiency, Hypo... |
ORPHA:95409 |
Uremic Pruritus |
|
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia |
ORPHA:94059 |
Addison Disease |
|
Hyperkalemia, Decreased circulating aldosterone level, Hypoparathyroidism, Androgen insufficiency... |
ORPHA:85138 |
Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Ptosis |
OMIM:617595 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Increased serum testosterone level, Increa... |
ORPHA:90791 |
Congenital Fibrinogen Deficiency |
|
Splenic rupture, Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Micropenis, Cyanosis, Decreas... |
ORPHA:335 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Sapho Syndrome |
|
Synovitis, Hyperostosis, Arthritis, Osteomyelitis, Osteolysis, Craniofacial osteosclerosis, Recur... |
ORPHA:793 |
Cyanosis And Hepatic Disease |
|
Cyanosis |
OMIM:219400 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Failure to thrive, Cyanosis |
ORPHA:91130 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Poems Syndrome |
|
Thrombocytosis, Pericardial effusion, Ascites, Polycythemia, Edema, Abnormality of the endocrine ... |
ORPHA:2905 |
Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Hypoglycemia, Leukopenia, Anemia, Lymphopenia,... |
OMIM:617053 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Flexion contracture, Osteolysis |
ORPHA:220393 |
Lig4 Syndrome |
|
Leukocytosis, Type II diabetes mellitus, Abnormality of chromosome stability, Cutaneous photosens... |
ORPHA:99812 |
Nestor-Guillermo Progeria Syndrome |
|
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Progressive clavicular acro... |
OMIM:614008 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Adrenal insufficiency, Hyponatremia, Conge... |
ORPHA:361 |
Complete Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... |
ORPHA:99429 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance |
ORPHA:363400 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Generalized Glucocorticoid Resistance Syndrome |
|
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... |
ORPHA:786 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Elevated circulating erythropoietin concentration, Increased hematocrit, Increased ... |
OMIM:611783 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia |
ORPHA:90060 |
Nephronophthisis 2 |
|
Hyperkalemia, Elevated circulating creatinine concentration |
OMIM:602088 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Osteolysis |
ORPHA:100026 |
Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
Gapo Syndrome |
|
Oligospermia, Dysmenorrhea, Amenorrhea, Hypogonadism, Prematurely aged appearance, Palpebral edema |
ORPHA:2067 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Fanconi Anemia, Complementation Group D2 |
|
Neutropenia, Small for gestational age, Annular pancreas, Leukemia, Anemia, Chromosomal breakage ... |
OMIM:227646 |
Chromomycosis |
|
Ankylosis, Osteolysis |
ORPHA:182 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Hyponatremia, Abnormal circulating aldosterone, Glucocortocoid-insensitive primary ... |
ORPHA:171876 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Abnormal erythrocyte morphology, Cyanosis |
ORPHA:71277 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Abnormal circulating acetylcarnitine con... |
ORPHA:71212 |
Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
Pachydermoperiostosis |
|
Osteoporosis, Abnormal cortical bone morphology, Arthritis, Osteomyelitis, Limitation of joint mo... |
ORPHA:2796 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic an... |
OMIM:611590 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Cryptorchidism, External genital hypoplasia, Decreased testicular size |
ORPHA:1867 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Thrombocytopenia, Pancytopenia |
OMIM:613987 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Anisopoikilocytosis, Elevated red cell adenosine deaminase level, Stomatocytosis, Hyperuricemia, ... |
OMIM:102730 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism, Polyhydramnios |
OMIM:160900 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Telangiectasia, Abnormality of chromosome stability |
OMIM:181750 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Ascites, Splenomegaly, Cyanosis, Pleural effusion, Hydrops fetalis |
ORPHA:2414 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Insulin resistance, Hypercholesterolemia, Diabetes mellitus, Hyper... |
ORPHA:528 |
Eosinophilic Fasciitis |
|
Weight loss, Edema, Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia, Muscular edema |
ORPHA:3165 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Hyponatremia, Unconjugated hyperbilirubinemia, Schistocytosis, Microangiopathic hem... |
ORPHA:90038 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Erythro... |
ORPHA:231222 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... |
ORPHA:99886 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Weight loss, Erectile... |
ORPHA:465508 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Hypogonadotropic hypogonadism, Micropenis, Bilateral cryptorchidism, Cyanosis, Decreased testicul... |
ORPHA:2326 |
Breath-Holding Spells |
|
Iron deficiency anemia, Cyanosis |
OMIM:607578 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Hyponatremia, Hyperkalemia, Hypoglycemia, Hyperactive renin-angiotensin syst... |
ORPHA:90790 |
Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hyponatremia, Hyperkalemia, Hypokalemia |
ORPHA:682 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypocalcemia, Incre... |
OMIM:601198 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Mixed Connective Tissue Disease |
|
Joint stiffness, Arthritis, Osteolysis |
ORPHA:809 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Epicanthus, Downslanted palpebral fissures, Wide nasal bridge, Microcytic anemia, Aplasia/Hypopla... |
ORPHA:98791 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Cryptorchidism, Severe failure to thrive |
ORPHA:3304 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen, Hyperuricosuria |
ORPHA:94088 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the... |
ORPHA:464321 |
Neuralgic Amyotrophy |
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Acrocyanosis |
ORPHA:2901 |
Congenital Disorder Of Glycosylation, Type Ib |
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Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
OMIM:602579 |
Multiple Endocrine Neoplasia Type 4 |
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Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Neuroleptic Malignant Syndrome |
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Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypernatremia, Elevated circulating cre... |
ORPHA:94093 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Bangstad Syndrome |
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Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... |
ORPHA:1227 |
Fanconi Anemia, Complementation Group I |
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Neutropenia, Chromosomal breakage induced by crosslinking agents, Decreased body weight, Hypothyr... |
OMIM:609053 |
Short Stature, Dauber-Argente Type |
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Fasting hyperinsulinemia |
OMIM:619489 |
Diamond-Blackfan Anemia 3 |
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Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Alstrom Syndrome |
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Decreased HDL cholesterol concentration, Diabetes insipidus, Insulin-resistant diabetes mellitus,... |
OMIM:203800 |
Dominant Beta-Thalassemia |
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Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Hypochromic microcyti... |
ORPHA:231226 |
Porphyria, Congenital Erythropoietic |
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Osteolysis, Joint contracture of the hand, Osteopenia, Pathologic fracture |
OMIM:263700 |
Apnea, Central Sleep |
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Cyanosis |
OMIM:207720 |
Aromatase Deficiency |
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Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Eunuchoid h... |
ORPHA:91 |
Fanconi Anemia, Complementation Group G |
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Neutropenia, Abnormality of chromosome stability, Leukemia, Anemia, Thrombocytopenia |
OMIM:614082 |
Hypokalemic Periodic Paralysis, Type 1 |
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Hypokalemia |
OMIM:170400 |
Cockayne Syndrome Type 1 |
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Male hypogonadism, Anemia, Increased blood urea nitrogen, Conjunctivitis |
ORPHA:90321 |
Familial Dysautonomia |
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Hyponatremia, Recurrent fractures, Osteolysis |
ORPHA:1764 |
Beta-Thalassemia Major |
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Adrenal insufficiency, Hypoparathyroidism, Anisopoikilocytosis, Hypochromic microcytic anemia, Ab... |
ORPHA:231214 |
Fanconi Anemia, Complementation Group J |
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Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Hypokalemic Periodic Paralysis, Type 2 |
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Hypokalemia |
OMIM:613345 |
Mandibuloacral Dysplasia |
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Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Increased circulati... |
ORPHA:2457 |
H Syndrome |
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Recurrent fractures, Camptodactyly, Hypertriglyceridemia, Osteolysis |
ORPHA:168569 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
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Chromosome breakage, Facial telangiectasia, Abnormality of chromosome stability, Leukemia, Conjun... |
OMIM:208910 |
Bloom Syndrome |
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Oligospermia, Telangiectasia, Acute lymphoblastic leukemia, Cutaneous photosensitivity, Small for... |
ORPHA:125 |
Meningioma |
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Enlarged pituitary gland, Amenorrhea, Decreased circulating cortisol level, Hypothalamic hypothyr... |
ORPHA:2495 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
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Oligospermia, Small for gestational age, Failure to thrive, Diabetes mellitus, Clitoral hypoplasi... |
OMIM:614813 |
Mpi-Cdg |
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Hyperinsulinemic hypoglycemia, Hypothyroidism, Hypoalbuminemia |
ORPHA:79319 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
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Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... |
OMIM:241150 |
Ciliary Dyskinesia, Primary, 18 |
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Absent outer dynein arms, Male infertility, Immotile sperm |
OMIM:614874 |
Familial Hypoaldosteronism |
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Hyperkalemia, Decreased circulating aldosterone level, Adrenal insufficiency, Hyponatremia, Incre... |
ORPHA:427 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
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Decreased serum creatinine |
ORPHA:289601 |
Papillon-Lefèvre Syndrome |
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Osteolysis |
ORPHA:678 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Elevated circulating creatinine concentration, Wide nasal bridge |
OMIM:614376 |
Igg4-Related Retroperitoneal Fibrosis |
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Normocytic anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, ... |
ORPHA:49041 |
Acute Interstitial Pneumonia |
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Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... |
ORPHA:79126 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
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Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Adrenocortical Carcinoma |
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Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... |
ORPHA:1501 |
Ciliary Dyskinesia, Primary, 14 |
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Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Polysplenia, ... |
OMIM:613807 |
Radial-Renal Syndrome |
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Chromosome breakage |
OMIM:179280 |
Liddle Syndrome 3 |
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Hypokalemia |
OMIM:618126 |
Congenital Disorder Of Glycosylation, Type Iit |
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Pineal cyst, Decreased HDL cholesterol concentration, Iron deficiency anemia, Decreased serum cre... |
OMIM:618885 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
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Edema, Facial edema, Polyhydramnios, Hydrocele testis, Lymphedema |
OMIM:618154 |
Gaucher Disease |
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Elevated circulating C-reactive protein concentration, Arthrogryposis multiplex congenita, Abnorm... |
ORPHA:355 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
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Pancytopenia, Abnormality of chromosome stability |
OMIM:600546 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Elevated circulating follicl... |
ORPHA:289548 |
Fanconi Anemia, Complementation Group Q |
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Chromosome breakage |
OMIM:615272 |
Pulmonary Alveolar Microlithiasis |
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Testicular microlithiasis, Hypoxemia, Weight loss, Cyanosis, Gonadal calcification, Peripheral ed... |
ORPHA:60025 |
Genetic Recurrent Myoglobinuria |
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Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia |
ORPHA:99845 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Elevated circulating follicl... |
ORPHA:168558 |
Fanconi Anemia, Complementation Group B |
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Abnormality of chromosome stability, Hypogonadism, Micropenis, Hypergonadotropic hypogonadism, Th... |
OMIM:300514 |
Bone Marrow Failure Syndrome 6 |
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Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia,... |
OMIM:618849 |
Carney Complex |
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Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... |
ORPHA:1359 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Hyperins... |
OMIM:608612 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy |
OMIM:601163 |
Mitochondrial Phosphate Carrier Deficiency |
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Abnormal mitochondrial shape, Cyanosis |
OMIM:610773 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Oligospermia, Hypospadias, Increased circulating progesterone, Adrenal hyperplasia, Fused labia m... |
ORPHA:95699 |
Gaucher Disease Type 3 |
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Increased susceptibility to fractures, Increased bone mineral density, Osteolysis |
ORPHA:77261 |
Juvenile Nephropathic Cystinosis |
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Hyponatremia, Hypouricemia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... |
ORPHA:411634 |
Rabson-Mendenhall Syndrome |
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Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insuli... |
ORPHA:769 |
Kaposiform Lymphangiomatosis |
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Fractures of the long bones, Osteolysis |
ORPHA:464329 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Hypokalemic Periodic Paralysis |
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Adrenocortical adenoma, Mildly elevated creatine kinase, Postprandial hyperglycemia, Episodic hyp... |
ORPHA:681 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
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Elevated circulating creatinine concentration |
OMIM:613095 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Hepatoerythropoietic Porphyria |
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Abnormal circulating porphyrin concentration, Osteoporosis, Osteolysis, Osteopenia |
ORPHA:95159 |
Interstitial Pneumonitis, Desquamative, Familial |
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Failure to thrive, Cyanosis |
OMIM:263000 |
Donohue Syndrome |
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Fasting hypoglycemia, Hyperglycemia, Precocious puberty, Pancreatic islet-cell hyperplasia, Postp... |
OMIM:246200 |
Alpha-Mannosidosis, Infantile Form |
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Cortical thickening of long bone diaphyses, Joint laxity, Craniosynostosis, Osteopenia, Joint sti... |
ORPHA:309282 |
Thyrotoxic Periodic Paralysis |
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Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Episodic hypokalemia, Thyrotoxicos... |
ORPHA:79102 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Compensated hypothyroidism, Normochromic anemia, Normocytic anemia, Elevated circulating creatini... |
ORPHA:247691 |
Estrogen Resistance Syndrome |
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Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... |
ORPHA:785 |
Erdheim-Chester Disease |
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Osteolysis, Increased bone mineral density, Osteomyelitis |
ORPHA:35687 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Cryofibrinogenemia, Familial Primary |
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Acrocyanosis |
OMIM:123540 |
Beta-Thalassemia |
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Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
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Reduced beta/alpha synthesis ratio, Lacrimal duct stenosis |
OMIM:609057 |
Cholesterol Pneumonia |
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Cyanosis |
OMIM:215030 |
Lysosomal Acid Lipase Deficiency |
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Hyperkalemia, Hyponatremia, Vacuolated lymphocytes, Bone-marrow foam cells, Anemia, Primary adren... |
ORPHA:275761 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Elevated circulating creatinine concentration, Anemia, Hyperuricemia |
OMIM:174000 |
Transcobalamin Deficiency |
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Neutropenia, Abnormality of chromosome stability, Lymphopenia, Pancytopenia, Thrombocytopenia |
ORPHA:859 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
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Abnormality of chromosome stability |
OMIM:215510 |
Congenital Erythropoietic Porphyria |
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Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Osteoporosis, Osteopenia, Abnormal ci... |
ORPHA:79277 |
Benign Familial Infantile Epilepsy |
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Cyanosis |
ORPHA:306 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose ... |
OMIM:248370 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Fanconi Renotubular Syndrome 1 |
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Hypokalemia, Aminoaciduria, Hypophosphatemia, Glycosuria |
OMIM:134600 |
Chikungunya |
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Synovitis, Periostitis, Arthritis, Osteolysis, Joint stiffness, Stiff interphalangeal joints, Ent... |
ORPHA:324625 |
Hajdu-Cheney Syndrome |
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Osteoporosis, Coarse metaphyseal trabecularization, Osteopenia, Decreased skull ossification, Rec... |
ORPHA:955 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Increased circulating progesterone, Decreased circulating aldosterone level, Increased serum test... |
ORPHA:90794 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Insulin resistance, Elevated circulating creatine kinase concentration, Splenomegaly, Hypertrigly... |
OMIM:613327 |
Fanconi-Bickel Syndrome |
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Hypouricemia, Generalized aminoaciduria, Hypokalemia, Hypophosphatemia, Glycosuria |
OMIM:227810 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Male infertility, Asplenia |
OMIM:618948 |
Familial Hyperaldosteronism Type Ii |
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Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Glucocortocoid-insensitive primary ... |
ORPHA:404 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Adrenal insufficiency, Anisopoikilocytosis, Azoospermia, Abnormality of the hypothalamus-pituitar... |
ORPHA:300298 |
Bacterial Toxic-Shock Syndrome |
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Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:36234 |
Cryptogenic Organizing Pneumonia |
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Hypoxemia, Leukocytosis, Weight loss, Neutrophilia, Cyanosis |
ORPHA:1302 |
Cryoglobulinemia, Familial Mixed |
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Elevated circulating creatinine concentration |
OMIM:123550 |
Sepsis In Premature Infants |
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Leukocytosis, Neutropenia, Petechiae, Small for gestational age, Edema, Anemia, Splenomegaly, Cya... |
ORPHA:90051 |
Obesity-Hypoventilation Syndrome |
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Obesity, Cyanosis |
OMIM:257500 |
Multiple Myeloma |
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Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Anemia, Splenomegaly |
ORPHA:29073 |
Hb Bart'S Hydrops Fetalis |
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Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
46,Xx Sex Reversal 2 |
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True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Familial Hyperaldosteronism Type I |
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Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, D... |
ORPHA:403 |
46,Xx Sex Reversal 1 |
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Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... |
OMIM:400045 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Polycythemia, Methemoglobinemia |
OMIM:250800 |
Encephalocraniocutaneous Lipomatosis |
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Bone cyst, Craniofacial hyperostosis, Osteolysis |
ORPHA:2396 |
Incontinentia Pigmenti |
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Spina bifida occulta, Camptodactyly of finger, Osteolysis |
ORPHA:464 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Ptosis, Epicanthus, Downslante... |
OMIM:141750 |
Occipital Horn Syndrome |
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Rickets, Osteoporosis, Osteopenia, Synostosis of joints, Osteomalacia, Joint hyperflexibility, Os... |
ORPHA:198 |
Wolfram Syndrome 1 |
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Testicular atrophy, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diabetes mell... |
OMIM:222300 |
Acquired Generalized Lipodystrophy |
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Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... |
ORPHA:79086 |
Aarskog-Scott Syndrome |
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Testicular atrophy, Elevated circulating follicle stimulating hormone level, Failure to thrive, E... |
OMIM:305400 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Increased serum testosterone level, Increased circulating androstenedione concentration, Increase... |
ORPHA:90795 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
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Hypokalemia, Hyperthyroidism, Goiter |
OMIM:613239 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
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Absent vas deferens, Azoospermia |
OMIM:300985 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Liddle Syndrome |
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Hypokalemia |
ORPHA:526 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
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Hypokalemia, Hyperthyroidism, Goiter |
OMIM:188580 |
Liddle Syndrome 2 |
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Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Tricuspid Atresia |
|