Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Obesity, Primary ameno... |
OMIM:610628 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Abnormality of the sense of sm... |
OMIM:146110 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Decreased testicular ... |
OMIM:614858 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland... |
OMIM:612702 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity, Abnormality of the kidney |
OMIM:615988 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hormone level, Dec... |
OMIM:614897 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Frontotemporal dementia, Frontal lobe dementia, Irritability, Deme... |
OMIM:600274 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Small scrotum, Hypogon... |
OMIM:308700 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Anosmia, Pri... |
OMIM:616030 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia |
OMIM:615266 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Bifid nose, Hyposmia, Micropenis, Decreased testicular size |
OMIM:614838 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Absence of pubertal d... |
OMIM:614837 |
Pick Disease Of Brain |
|
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... |
OMIM:172700 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Anosmia, Primary amenor... |
OMIM:244200 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Micropenis, Decreased... |
OMIM:614841 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia, Hypogonadism, Absence of pubertal development |
OMIM:615267 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Anosmia, Primary amenorrh... |
OMIM:618841 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Obesity, Renal cyst |
OMIM:615987 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia, Hypogonadism, Delayed puberty |
OMIM:615270 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Decreased... |
ORPHA:314811 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicu... |
OMIM:614880 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Anosmia, Primary amenorrhea, Dela... |
OMIM:147950 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Hypogonadotropic hypogonadism |
OMIM:612370 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism, Azoospermia, Elevated ... |
OMIM:613724 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum |
OMIM:302950 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, External genital hypoplasia, Obesity, Renal hypoplasia, Hypogonadism, Hyposm... |
OMIM:615996 |
Huntington Disease |
|
Bradyphrenia, Aggressive behavior, Oral-pharyngeal dysphagia, Mental deterioration, Depression, M... |
ORPHA:399 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Anosmia, Obesity, Renal cyst, Stage 5 chronic kidney disease, Hypogonadism, Hyposmia, M... |
OMIM:615994 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... |
OMIM:228300 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia, Anosmia, Hyperinsulinemia, Obesity, Increased serum leptin,... |
OMIM:617885 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis |
ORPHA:85274 |
Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... |
ORPHA:33543 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II diabetes mellitus, Child... |
ORPHA:71529 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... |
ORPHA:90795 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Decreased circulating luteinizing hor... |
OMIM:614839 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Decrease... |
OMIM:614842 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase... |
OMIM:615703 |
Bardet-Biedl Syndrome 5 |
|
Micropenis, Hypogonadism, Obesity, External genital hypoplasia |
OMIM:615983 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, External genital hypoplasia, Obesity, Renal cyst, Stage 5 ch... |
OMIM:615993 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... |
OMIM:601820 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Septo-optic dysplasia, Anterior pituitary hypoplasia, Maternal diabetes, Opt... |
ORPHA:3157 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Recurrent upper respiratory tract infections, Obesity, Primary amenorrhea... |
OMIM:614962 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Bulbous nose, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicu... |
ORPHA:261483 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Facial palsy, Bulbous nose, Anosmia, Hypogonadism, Failure to thrive |
ORPHA:2316 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... |
ORPHA:171706 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Anosmia, Abnormal nostril morp... |
ORPHA:1295 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Increased ... |
ORPHA:90791 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Obesity |
OMIM:309585 |
Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit... |
ORPHA:1135 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal d... |
ORPHA:324575 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity, Infertility, Oligomenorrhea |
OMIM:604931 |
Leptin Receptor Deficiency |
|
Abnormal eating behavior, Aggressive behavior, Recurrent upper respiratory tract infections, Abno... |
OMIM:614963 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Abnormal... |
ORPHA:320 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Obesity, Renal cyst, Hypo... |
OMIM:615982 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Apparent Mineralocorticoid Excess |
|
Small for gestational age, Hypokalemia, Failure to thrive, Decreased circulating aldosterone leve... |
OMIM:218030 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia |
ORPHA:329249 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Recurrent sinusitis, Immotile sperm |
OMIM:618449 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Obesity |
ORPHA:3055 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone concentration, P... |
OMIM:617872 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Incre... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula... |
OMIM:202010 |
Bardet-Biedl Syndrome 7 |
|
Depressed nasal bridge, Hypogonadism, Obesity |
OMIM:615984 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Polyphagia, Inappropriate laughter |
ORPHA:411515 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age, Increased serum serotonin |
ORPHA:85288 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease... |
ORPHA:2234 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Broad nasal tip... |
OMIM:300148 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Renal cortica... |
ORPHA:231632 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... |
ORPHA:276608 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal testis morphology, Hypogonadism, Decreased fertility, Obesity |
ORPHA:2233 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia, Confusion |
OMIM:148840 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Obesity |
OMIM:615995 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Abnormalit... |
OMIM:616113 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis... |
OMIM:103900 |
Kufor-Rakeb Syndrome |
|
Aggressive behavior, Anosmia, Bradykinesia, Dementia, Dysphagia, Hyposmia |
OMIM:606693 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit hyperactivity disorder, Hyperi... |
ORPHA:35878 |
Peroxisome Biogenesis Disorder 9B |
|
Elevated circulating phytanic acid concentration, Anosmia, Total anosmia |
OMIM:614879 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Anteverted nares, Hyperinsulinemia, Wide nasal bridge, Obesity, Optic atroph... |
ORPHA:791 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty |
ORPHA:141333 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... |
OMIM:610600 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... |
ORPHA:369873 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... |
ORPHA:276580 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Abnormal circul... |
ORPHA:556037 |
Preeclampsia |
|
Increased body mass index, Small for gestational age, Abnormality of the kidney, Proteinuria, Chr... |
ORPHA:275555 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... |
OMIM:262400 |
Liddle Syndrome 1 |
|
Renal insufficiency, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating ... |
OMIM:177200 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Nasal polyposis, Anosmia, Chronic rhinitis |
OMIM:244400 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia, Obesity |
OMIM:618406 |
Hyperostosis Cranialis Interna |
|
Hyposmia, Optic atrophy, Anosmia, Facial palsy |
OMIM:144755 |
14Q11.2 Microduplication Syndrome |
|
Depressed nasal bridge, Aggressive behavior, Wide nasal bridge, Attention deficit hyperactivity d... |
ORPHA:261229 |
Bardet-Biedl Syndrome 8 |
|
Renal dysplasia, Hypogonadism, Obesity, Hypospadias |
OMIM:615985 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... |
ORPHA:231625 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Urinary incontinence, Anosmia, Abnormal nerve conduction velocity, Abnormal autonomic nervous sys... |
OMIM:243000 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Abnormal circul... |
ORPHA:556030 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A... |
ORPHA:85450 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
Young-Onset Parkinson Disease |
|
Restless legs, Short attention span, Impulsivity, Depression, Frontal lobe dementia, Bradykinesia... |
ORPHA:2828 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula... |
OMIM:613677 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... |
ORPHA:231580 |
Akt2-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... |
ORPHA:79085 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Obesity And Hypopigmentation |
|
Polyphagia, Hyperinsulinemia, Obesity |
OMIM:620195 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Hypogonadotropic hypogonadism, Renal agenesis, Partial anosmia, Total anosmia, Bilateral cryptorc... |
ORPHA:2326 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fasting hypoglycem... |
ORPHA:276575 |
Chromosome 22Q13 Duplication Syndrome |
|
Short attention span, Anteverted nares, Impulsivity, Narrow nasal ridge, Attention deficit hypera... |
OMIM:615538 |
Refsum Disease, Classic |
|
Elevated circulating phytanic acid concentration, Anosmia, Abnormal renal physiology |
OMIM:266500 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Lateral ventricle dilata... |
OMIM:607485 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia, Abnormal cranial nerve morphology |
ORPHA:2057 |
Gorlin Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Wide nasal bridge, Abnormality of the sense of smell |
ORPHA:377 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Bulbous nose, Increased circulating gonadotropin level... |
OMIM:300869 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Orthostatic hypotens... |
ORPHA:95409 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Choanal s... |
OMIM:201750 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Hypogonadotropic hypogonadism, Cryptorchidism, Anosm... |
ORPHA:251066 |
Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Mic... |
ORPHA:85282 |
Temple Syndrome |
|
Wide nose, Hypertriglyceridemia, Depressed nasal bridge, Anteverted nares, Maturity-onset diabete... |
OMIM:616222 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435660 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Anosmia, Delayed puberty, Micropenis |
OMIM:619718 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Hypogonadism, Obesity, External genital hypoplasia |
OMIM:615981 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge, Frontalis muscle weakness |
OMIM:210745 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Single naris, Anosmia, Absent n... |
ORPHA:2250 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... |
OMIM:601198 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:85138 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity |
ORPHA:2183 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435651 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Anosmia |
OMIM:601152 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia |
ORPHA:79084 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thr... |
OMIM:203400 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose, Obesity |
OMIM:300577 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... |
ORPHA:3085 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Broad nasal tip, Obesity, Enuresis, Short nose |
OMIM:613670 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis |
OMIM:301900 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Anteverted nares, Hypergonadotropic hypogonadism, Prominent nose, Depressed nasa... |
OMIM:154230 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Wilson-Turner Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity, Broad nasal tip |
ORPHA:3459 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618126 |
Holoprosencephaly |
|
Hyponatremia, Aplasia/Hypoplasia involving the nose, Diabetes mellitus, Anteverted nares, Choanal... |
ORPHA:2162 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Obesity, Type II diabetes mellitus, Dis... |
ORPHA:2377 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Primary ameno... |
OMIM:615300 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Hernández-Aguirre Negrete Syndrome |
|
Bulbous nose, Obesity, Delayed puberty |
ORPHA:2139 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Bulbous nose, Obesity |
OMIM:300238 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... |
OMIM:194072 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Primary hyperaldosteronism, Hypokalemia, Nephrolithiasis, Decreased circulating renin level |
OMIM:615474 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Truncal obesity, Premature ovarian insufficiency |
ORPHA:2928 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Waardenburg Syndrome, Type 4C |
|
Aganglionic megacolon, Cryptorchidism, Anosmia, Hypogonadism |
OMIM:613266 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Obesity, Primary a... |
OMIM:619737 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Wide nasal bridge, Wide nasal base, Polyphagia, Self-mutilation |
OMIM:616521 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity, Underdeveloped nasal alae |
OMIM:300872 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Obesity, External genital hypoplasia |
ORPHA:177910 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... |
ORPHA:171876 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... |
OMIM:147250 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... |
OMIM:177735 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Choanal atresia, Hypospadias, Cryptorchidism, Anosmia, Primary ame... |
OMIM:603457 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Maturity-onset diabetes of the young, Small ... |
ORPHA:96184 |
Hydrolethalus |
|
Cryptorchidism, Agenesis of corpus callosum, Abnormal fallopian tube morphology, Abnormality of t... |
ORPHA:2189 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity, External genital hypoplasia |
ORPHA:363741 |
6Q16 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Bulbous nose, Abnormal temper tantrums, Polyphagia |
ORPHA:171829 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Short attention span, Aggressive behavior, Prominent nose, Bulbous nose, Depressed nasal ridge, S... |
OMIM:156200 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Anteverted nares, Obesity, Broad nasal tip |
ORPHA:1193 |
Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Prominent nasal bridge, Abnormality of the kidney, Renal agenesis, Protein... |
ORPHA:261222 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Obesity |
OMIM:618124 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Short nose, Polymicrogyria, Poly... |
OMIM:618774 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Refsum Disease |
|
Renal insufficiency, Anosmia |
ORPHA:773 |
Pseudohypoparathyroidism, Type Ic |
|
Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone concentration, Pseudohyp... |
OMIM:612462 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hypospadias, Renal agenesis, Cryptorchidism, Obesity, R... |
ORPHA:171839 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent upper respiratory tract infections, Obesity |
OMIM:300209 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hyperkale... |
ORPHA:427 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, Nephronophth... |
OMIM:616629 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Recurrent sinusitis, Chronic rhinitis, Immotile sperm |
OMIM:617091 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Elevated circulating creatinine concentration, Hypoalbuminemia, Neonatal death, D... |
OMIM:608104 |
Chung-Jansen Syndrome |
|
Cryptorchidism, Short nose, Anteverted nares, Obesity |
OMIM:617991 |
Wagro Syndrome |
|
Aggressive behavior, Agitation, Low frustration tolerance, Compulsive behaviors, Impaired social ... |
OMIM:612469 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis... |
ORPHA:398079 |
Megalencephaly |
|
Macroorchidism, Truncal obesity, Long penis, Wide nasal bridge |
ORPHA:2477 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... |
OMIM:616033 |
11P15.4 Microduplication Syndrome |
|
Anteverted nares, Obesity |
ORPHA:300305 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... |
ORPHA:2298 |
Trisomy 18P |
|
Polyphagia, Wide nasal bridge, Attention deficit hyperactivity disorder, Underdeveloped nasal alae |
ORPHA:1715 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... |
OMIM:241150 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Urinary incontinence, Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased t... |
ORPHA:320391 |
Man1B1-Cdg |
|
Wide nose, Prominent nose, Periventricular heterotopia, Wide nasal bridge, Polyphagia, Underdevel... |
ORPHA:397941 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Prominent nasal bridge, Cryptorchidism, Abnormality of the ureter, Obesity, ... |
ORPHA:3409 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:601794 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Obesity... |
OMIM:614613 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Prominent nasal bridge, Cryptorchidism, Obesit... |
ORPHA:110 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Proteinuria, Microscopic hematuria, Cryptorchidism, Chro... |
ORPHA:97362 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Azoospermia, Infert... |
ORPHA:10 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Renal insufficiency, Irregular menstruation, Obesity |
OMIM:615986 |
Meningioma |
|
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... |
ORPHA:2495 |
Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity |
ORPHA:893 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Marcus-Gunn Syndrome |
|
Nephrolithiasis, Abnormal fifth cranial nerve morphology, Choanal atresia, Abnormality of the sen... |
ORPHA:91412 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Depressed nasal bridge, Hypospadias, Cryptorchidism, Bulbous nose, Simplified gyral pattern, Abdo... |
OMIM:300354 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Bulbous nose, Obesity |
ORPHA:85286 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Renal dysplasia, Elevated circulating creatinine concentration, Abnorm... |
OMIM:616733 |
Cornelia De Lange Syndrome 5 |
|
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Broad nasal tip, Cryptorchidism... |
OMIM:300882 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Atretic vas deferens, Hypospadias, Abnormality of the kidney, Elevated circulating cr... |
OMIM:137920 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Obesity |
OMIM:620270 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Clark-Baraitser syndrome |
|
Anteverted nares, Broad nasal tip, Obesity, Macroorchidism, Tall stature |
OMIM:300602 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Cryptorchidism, Obesity |
OMIM:615633 |
Ciliary Dyskinesia, Primary, 46 |
|
Recurrent sinusitis, Reduced sperm motility |
OMIM:619436 |
Hereditary Late-Onset Parkinson Disease |
|
Impulsivity, Depression, Bradykinesia, Dementia, Agitation, Low frustration tolerance, Dysphagia,... |
ORPHA:411602 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Renal salt wasting, Increased urinary potassium, Impaire... |
ORPHA:89938 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Pseudohypoparathyroidism, Type Ia |
|
Depressed nasal bridge, Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Hypogonadism, Eleva... |
OMIM:103580 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Depressed nasal bridge, Attention deficit hyperactivity disorder, Compulsiv... |
ORPHA:444002 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Anteverted nares, Abnormality of the endocrine system, Cryptorchidism, Depressed nasal ridge, Pse... |
ORPHA:464288 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... |
ORPHA:199343 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Wide nose, Obesity |
ORPHA:276630 |
Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating creatinine concent... |
ORPHA:230 |
Ciliary Dyskinesia, Primary, 26 |
|
Rhinitis, Infertility, Recurrent sinusitis, Reduced sperm motility |
OMIM:615500 |
Joubert Syndrome 37 |
|
Wide nose, Anteverted nares, Cryptorchidism, Wide nasal bridge, Obesity, Hydronephrosis, Micropen... |
OMIM:619185 |
Gaisböck Syndrome |
|
Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Increased... |
ORPHA:90041 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Decreased female libido, Small for gestational age, Abno... |
ORPHA:330015 |
Superficial Siderosis |
|
Partial anosmia, Anosmia, Dementia, Cognitive impairment, Memory impairment, Dysgyria |
ORPHA:247245 |
Solitary Fibrous Tumor |
|
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss |
ORPHA:2126 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Trisomy 5P |
|
Hypoplasia of penis, Obesity, Renal hypoplasia/aplasia |
ORPHA:1742 |
Oligomeganephronia |
|
Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Glomerulo... |
ORPHA:2260 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
Monosomy 13Q34 |
|
Metrorrhagia, Prominent nasal bridge, Epistaxis, Broad nasal tip, Prominent nose, Hypercalcemia, ... |
ORPHA:96168 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Reduced sperm motility |
OMIM:602271 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Reduced intraabdominal adipose tissue, Insuli... |
ORPHA:363400 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... |
OMIM:262600 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
8Q21.11 Microdeletion Syndrome |
|
Wide nose, Hypoplasia of penis, Underdeveloped nasal alae, Cryptorchidism, Abnormality of the sen... |
ORPHA:284160 |
48,Xxxy Syndrome |
|
Renal dysplasia, Hypoplasia of penis, Small scrotum, Cryptorchidism, Depressed nasal ridge, Obesi... |
ORPHA:96263 |
Charge Syndrome |
|
Bifid scrotum, Depressed nasal bridge, Hypogonadotropic hypogonadism, Choanal atresia, Facial pal... |
ORPHA:138 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testostero... |
ORPHA:247768 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
ORPHA:163690 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr... |
OMIM:601678 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Micropenis, Childhood-onset truncal obesity |
OMIM:610156 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... |
OMIM:619927 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... |
ORPHA:79644 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Rhinitis, Recurrent sinusitis, Immotile sperm |
OMIM:614874 |
Morm Syndrome |
|
Truncal obesity, Micropenis, Abnormality of the kidney |
ORPHA:75858 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Luscan-Lumish Syndrome |
|
Shyness, Polyphagia, Long nose, Aggressive behavior |
OMIM:616831 |
15Q24 Microdeletion Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Decreased response to growth hormone stimulation ... |
ORPHA:94065 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Wide nose, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Hypercholesterolemia |
ORPHA:254531 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... |
OMIM:608836 |
Schaaf-Yang Syndrome |
|
Skin-picking, Polyphagia, Impulsivity |
OMIM:615547 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Irritability, Emotional lability, Polydipsia, Polyphagia |
ORPHA:525731 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98754 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
Gitelman Syndrome |
|
Polyuria, Renal magnesium wasting, Hypomagnesemia, Enuresis, Hypokalemia, Increased circulating r... |
OMIM:263800 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... |
OMIM:214700 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Wide nose, Prominent nasal bridge, Convex nasal ridge, Aggressive behavior, Emotion... |
ORPHA:251028 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:98793 |
Hsd10 Disease |
|
Short attention span, Abnormal social behavior, Dysphagia |
ORPHA:391417 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Cryptorchidism, Abnormality of neuronal mig... |
OMIM:300957 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury |
ORPHA:54057 |
Hypotonia-Cystinuria Syndrome |
|
Depressed nasal bridge, Polyphagia |
OMIM:606407 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Chronic rhinitis, Immotile sperm |
OMIM:612650 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177904 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Pancreatic islet-... |
ORPHA:263455 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:177901 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent sinusitis, Chronic rhinitis, Reduced sperm motility |
OMIM:612649 |
Rafiq Syndrome |
|
Wide nose, Prominent nose, Bulbous nose, Wide nasal bridge, Obesity, Truncal obesity, Underdevelo... |
OMIM:614202 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... |
OMIM:614736 |
Progressive Supranuclear Palsy |
|
Impulsivity, Depression, Abnormal synaptic transmission, Bradykinesia, Dementia, Cognitive impair... |
ORPHA:683 |
Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Rhinitis, Infertility, Recurrent sinusitis, Reduced sperm motility |
OMIM:615444 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Truncal obesity, Concave nasal ridge, Hypogonadism, Failure to thrive,... |
ORPHA:73272 |
Idiopathic Intracranial Hypertension |
|
Focal sensory seizure with olfactory features, Papilledema, Obesity |
ORPHA:238624 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Narrow nasal bridge, Impulsivity, Abnormal temper tantrums, Compulsive behaviors, Skin-picking, C... |
ORPHA:398069 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Anteverted nares, Broad nasal tip, Abnormal repetitive mannerisms, Bruxism, Wide n... |
OMIM:615873 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Cryptorchidism, Vesicoureteral reflux, Obesity, Hyposmia, Micropenis, Pelvic kidney, Hydronephrosis |
OMIM:618653 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Polyphagia |
OMIM:620085 |
Down Syndrome |
|
Depressed nasal bridge, Aganglionic megacolon, Renal hypoplasia/aplasia, Depressed nasal ridge, D... |
ORPHA:870 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Obesity, Short nose, Low hanging columella |
OMIM:617752 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614376 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Summitt Syndrome |
|
Wide nose, Depressed nasal ridge, Obesity, Tall stature |
ORPHA:3210 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
Congenital Myopathy 9A |
|
Cryptorchidism, Obesity |
OMIM:618822 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Penile freckling, Large for gestational age, Obesity, Hydrocele testis, O... |
OMIM:605309 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Obesity, Increased circulating ACTH level, Nephrolithiasis, Hypokalemia, Abdom... |
OMIM:219090 |
Moebius Syndrome |
|
Hypogonadotropic hypogonadism, Facial palsy, Abnormality of the sense of smell |
ORPHA:570 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr... |
OMIM:203800 |
Nephronophthisis 15 |
|
Obesity, Nephronophthisis |
OMIM:614845 |
Adiposis Dolorosa |
|
Obesity |
OMIM:103200 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased circulating re... |
OMIM:612780 |
Ciliary Dyskinesia, Primary, 15 |
|
Nasal polyposis, Infertility, Immotile sperm |
OMIM:613808 |
Coach Syndrome 2 |
|
Agenesis of corpus callosum, Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Abnormality of the sense of smell |
ORPHA:3201 |
Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Tongue thrusting, Self-injurious behavior, Inappropriate laug... |
ORPHA:72 |
13Q12.3 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Cryptorchidism, Obesity, Low insertion of columella, Failure to thrive |
ORPHA:412035 |
Laron Syndrome |
|
Aplasia/Hypoplasia involving the nose, Hypoplastic nasal bridge, Hypoplasia of penis, Abnormality... |
ORPHA:633 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Nasal congestion, Optic disc pallor, Reduced sperm motility |
OMIM:615434 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Polyuria, Renal sa... |
OMIM:241200 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone le... |
OMIM:603233 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Urinary incontinence, Obesity, Urinary urgency, Urinary bladder sphincter dysfunction, Agenesis o... |
OMIM:604360 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hydronephrosis, Hypogonadism, Vag... |
OMIM:615989 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:151660 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Wide nasal bridge, Congenital hypothyroidism |
ORPHA:352530 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Bulbous nose, Obesity |
ORPHA:480907 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
External genital hypoplasia, Broad nasal tip, Bulbous nose, Truncal obesity, Hypogonadism, Microp... |
ORPHA:3041 |
Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia |
OMIM:607060 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Wilson Disease |
|
Hypoparathyroidism, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouri... |
OMIM:277900 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Failure to thrive, Hypoplasia of penis, Anteverted nares, Renal insufficiency, Cryptorchidism, Ob... |
ORPHA:96147 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Prader-Willi Syndrome |
|
Narrow nasal bridge, Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth h... |
OMIM:176270 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease, Wide nasal bridge, Obesity |
OMIM:618821 |
Relapsing Fever |
|
Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulating creatinine... |
ORPHA:91547 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Attention deficit hyperactivity disorder, Recurrent hand flapping, ... |
OMIM:617600 |
Xp22.13P22.2 Duplication Syndrome |
|
Broad nasal tip, Recurrent upper respiratory tract infections, Flared nostrils, Polycystic ovarie... |
ORPHA:284180 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Anteverted nares, Depressed nasal bridge, Aggressive behavior, Narcolepsy, Recurrent upper respir... |
ORPHA:293987 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Obesity |
ORPHA:3077 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fas... |
OMIM:246200 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Anteverted nares, Convex nasal ridge, Obesity |
ORPHA:1035 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity, Short nose |
ORPHA:2429 |
Leprechaunism |
|
Wide nose, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Hy... |
ORPHA:508 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Abnormality of the kidney, Prominent nose, Obesity, Failure to thrive, Convex nasal ridge, Low ha... |
OMIM:610543 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... |
ORPHA:280365 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
Adnp Syndrome |
|
Depressed nasal bridge, Aggressive behavior, Oral-pharyngeal dysphagia, Recurrent upper respirato... |
ORPHA:404448 |
8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Acro-Renal-Mandibular Syndrome |
|
Renal hypoplasia/aplasia, Bicornuate uterus, Uterus didelphys, Abnormality of the sense of smell |
ORPHA:958 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Chronic rhinitis, Immotile sperm |
OMIM:242670 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Truncal obesity, Hypogonadism, Decreased test... |
ORPHA:127 |
Carpenter Syndrome |
|
Abnormal reproductive system morphology, Cryptorchidism, Obesity, External genital hypoplasia |
ORPHA:65759 |
Galactokinase Deficiency |
|
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Failur... |
ORPHA:79237 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Microtriplication 11Q24.1 |
|
Wide nose, Obesity, Hyperlipidemia |
ORPHA:289522 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... |
OMIM:609152 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Stage 3 chronic kidney disease, Hyperparathyroidism, Elevated circulating creatinine... |
OMIM:620366 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... |
OMIM:214800 |
19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Anteverted nares, Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipi... |
ORPHA:254346 |
Pseudohypoparathyroidism Type 1C |
|
Depressed nasal bridge, Confusion, Depression, Irritability, Polyphagia |
ORPHA:79444 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
Immunodeficiency 61 |
|
Obesity, Recurrent sinusitis |
OMIM:300310 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Male hypogonadism, Obesity |
OMIM:300055 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Depressed nasal bridge, Anteverted nares, Failure to thrive in infancy, Ren... |
ORPHA:819 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Confusion, Abnormal hypothalamus morphology, Irritability, Hyposmia, Lethargy |
ORPHA:68 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Progressive psychomotor deterioration, Polyphagia |
ORPHA:251004 |
Campomelic Dysplasia |
|
Depressed nasal bridge, Male pseudohermaphroditism, Abnormality of the sense of smell, Ambiguous ... |
ORPHA:140 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Gangliocytoma |
|
Dementia, Polyphagia |
ORPHA:251937 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Adipose tissue loss, Insulin res... |
ORPHA:528 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Depressed nasal bridge, Prominent nose, Bulbous nose, Obesity, Organic aciduria, Prominent nasal ... |
OMIM:620191 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... |
OMIM:608747 |
Leopard Syndrome 1 |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Aplasia of the ovary, Depressed nasal rid... |
OMIM:151100 |
Retinal Dystrophy And Obesity |
|
Peripapillary atrophy, Obesity |
OMIM:616188 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia |
OMIM:605231 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Failure to thrive in infancy, Hypospadias, Cachexia, Prec... |
ORPHA:813 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Aggressive behavior, Broad nasal tip, Polyphagia, Simplified gyral ... |
ORPHA:96121 |
Pde4D Haploinsufficiency Syndrome |
|
Depressed nasal bridge, Hypospadias, Prominent nose, Cryptorchidism, Obesity, Elevated circulatin... |
ORPHA:439822 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Baralle-Macken Syndrome |
|
Urinary incontinence, Obesity |
OMIM:619255 |
Bardet-Biedl Syndrome 3 |
|
Obesity, External genital hypoplasia, Renal hypoplasia |
OMIM:600151 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity, Horseshoe kidney |
OMIM:617406 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis, Reduced sperm motility |
OMIM:608647 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria, Elevated circulating creatinine concentration, Weight loss |
ORPHA:90060 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Optic atrophy, Obesity |
OMIM:614651 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Prominent nasal bridge, Unilateral renal agenesis, Broad nasal tip, Long nose,... |
OMIM:616541 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Rett Syndrome |
|
Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitive mannerisms, Stereotypic... |
ORPHA:778 |
Lacrimoauriculodentodigital Syndrome |
|
Choanal atresia, Cryptorchidism, Anosmia, Renal hypoplasia, Bicornuate uterus, Vesicoureteral ref... |
ORPHA:2363 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Frequent temper tantrums, Atten... |
OMIM:620141 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Craniopharyngioma |
|
Enlarged pituitary gland, Papilledema, Abnormal nasal bone morphology, Hypogonadotropic hypogonad... |
ORPHA:54595 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit |
ORPHA:79126 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose, Obesity |
OMIM:611936 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Hypercholesterolemia, Proteinuria, Bilateral cryptorchidism, Obesity, Male hypogonad... |
OMIM:619471 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Obesity |
OMIM:619854 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Cachexia, Prominent nose, Obesity, Hypogonadism, Decreased testicular size |
ORPHA:85293 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal ... |
OMIM:615980 |
Weaver Syndrome |
|
Lateral ventricle dilatation, Polyphagia, Depressed nasal bridge |
OMIM:277590 |
Waardenburg Syndrome, Type 2E |
|
Anosmia |
OMIM:611584 |
Pseudopseudohypoparathyroidism |
|
Depressed nasal bridge, Pseudohypoparathyroidism, Obesity |
OMIM:612463 |
Subaortic Stenosis-Short Stature Syndrome |
|
Abnormal circulating lipid concentration, Anteverted nares, Type II diabetes mellitus, Obesity |
ORPHA:3191 |
Tatton-Brown-Rahman Syndrome |
|
Cryptorchidism, Obesity, Short columella, Proportionate tall stature, Neuroendocrine neoplasm |
ORPHA:404443 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Chromosome 2Q37 Deletion Syndrome |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Obesity, Hypothyroidism |
OMIM:600430 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Pseudohypoparathyroidism Type 1A |
|
Depressed nasal bridge, Confusion, Depression, Irritability, Polyphagia |
ORPHA:79443 |
Radio-Tartaglia Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Precocious puberty, Bulbous nos... |
OMIM:619312 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Memory impairment, Narcolepsy, Dementia, Depression |
OMIM:604121 |
Laurence-Moon Syndrome |
|
Micropenis, Small scrotum, Obesity |
OMIM:245800 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... |
OMIM:608594 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity, Primary amenorrhea, Prominent nose |
ORPHA:319675 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nose, Bulbous nose, Wide nasal bridge, Obesity |
ORPHA:2180 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Prominent nasal tip, Nail-biting, Aggressive behavior, Broad nasal tip, Hair-pulling, Polyphagia,... |
OMIM:620330 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Puberty and gonadal disorders, Urinary incontinence, Obesity |
ORPHA:464282 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Anteverted nares, Hypospadias, Cryptorchidism, Obesity,... |
ORPHA:261494 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Perlman Syndrome |
|
Inguinal hernia, Hyperinsulinemia, Femoral hernia |
ORPHA:2849 |
Kleefstra Syndrome 1 |
|
Anteverted nares, Hypospadias, Cryptorchidism, Abnormal renal morphology, Obesity, Micropenis |
OMIM:610253 |
X-Linked Intellectual Disability, Stevenson Type |
|
Thick nasal alae, Broad columella, Tall stature, Obesity |
ORPHA:85325 |
Multiple Myeloma |
|
Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Abnormality of the bla... |
ORPHA:29073 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Primary Ciliary Dyskinesia |
|
Male infertility, Nasal polyposis, Female infertility, Nasal congestion, Chronic rhinitis, Abnorm... |
ORPHA:244 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Diabetes mellitus, Anteverted nares, Small scrotum, External genital hypoplasia, Cryptorchidism, ... |
OMIM:614231 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hyposmia |
OMIM:616488 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Small for gestational age |
ORPHA:621 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism,... |
ORPHA:95496 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Proteinuria, Dysplastic corpus callosum, Chronic kidney disease, Tu... |
ORPHA:488627 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Aapoaiv Amyloidosis |
|
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep... |
ORPHA:439232 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Decreased fertility, Renal hypoplasia, Abnormality ... |
ORPHA:3138 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Aganglionic megacolon, Abnormality of the kidney, Nephrogenic diabetes insipid... |
OMIM:209900 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Obesity, Weight loss, Sho... |
ORPHA:251071 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Failure to thrive, Increased mean corpuscular volume |
OMIM:612561 |
Carpenter Syndrome 1 |
|
Hydroureter, Depressed nasal bridge, External genital hypoplasia, Precocious puberty, Cryptorchid... |
OMIM:201000 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abnormal soc... |
ORPHA:1020 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Epistaxis, Glomerulonephritis, Chronic kidney disease, Hyperkalemia, Elevate... |
ORPHA:340 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... |
ORPHA:424 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Partial agenesis of the corpus callosum, Wide nasal bridge, Obesity, Overgrowth, Short nose, Agen... |
OMIM:620250 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Wide nasal bridge |
OMIM:613192 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea... |
OMIM:269700 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Bulbous nose, Obesity, Short nose, Tall stature |
OMIM:618430 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, Failure to thrive, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Wide nose, Anteverted nares, Obesity |
OMIM:619056 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid... |
ORPHA:79445 |
Retinitis Pigmentosa 51 |
|
Obesity, Abnormality of the kidney |
OMIM:613464 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Failure to thrive in infancy, Optic nerve hypoplasia, Broad nasal tip, Obesity, Wid... |
OMIM:620155 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... |
OMIM:274150 |
Secondary Short Bowel Syndrome |
|
Polyphagia |
ORPHA:95427 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... |
ORPHA:85327 |
Chops Syndrome |
|
Anteverted nares, Cryptorchidism, Optic atrophy, Obesity, Horseshoe kidney, Vesicoureteral reflux... |
OMIM:616368 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Irregular... |
ORPHA:264580 |
Choreoacanthocytosis |
|
Bradyphrenia, Short attention span, Self-mutilation of tongue and lips due to involuntary movemen... |
ORPHA:2388 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Truncal obesity, Obesity |
OMIM:618363 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity |
ORPHA:397973 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... |
ORPHA:542323 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Obesity, Tall stature |
OMIM:618089 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hyperalaninemia, Elevated circulating creatine kinase concentration, Obesity |
OMIM:615418 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Irregular... |
ORPHA:79240 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Overweight, Umbilical hernia, Persistence of hemoglobin F, Hiatus hernia |
OMIM:619769 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Prominent nasal bridge, Urinary incontinence, Pineal cys... |
OMIM:618885 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity, Hypomagnesemia |
OMIM:616418 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Anteverted nares, Hypogonadotropic hypogonadism, Decreased response to growt... |
ORPHA:177907 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Obesity, Nephronophthisis |
OMIM:615630 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Cryptorchidism, Disproportionate tall stature, Abdominal obesity |
OMIM:301039 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... |
ORPHA:247353 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Self-inju... |
ORPHA:449291 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Aggressive behavior, Narcolepsy, Mental deterioration, Depr... |
ORPHA:646 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Depressed nasal bridge, Aggressive behavior, Polymicrogyria, Depressed nasal ridge, Wide nasal br... |
OMIM:607872 |
Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... |
ORPHA:94086 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Obesity, Gray matter heterot... |
OMIM:608624 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Convex nasal ridge, Optic nerve hypoplasia, Optic atrophy, Renal hypoplasia, Micropenis, Abdomina... |
OMIM:619321 |
Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... |
ORPHA:1359 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:248370 |
Mpi-Cdg |
|
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Cohen Syndrome |
|
Failure to thrive in infancy, Prominent nasal bridge, Cryptorchidism, Optic atrophy, Obesity, Del... |
ORPHA:193 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Memory impairment, Narcolepsy, Mental deterioration, Depression |
ORPHA:314404 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... |
ORPHA:86816 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Bloom Syndrome |
|
Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Diabetes m... |
ORPHA:125 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Elevated circulating creatinine concentration, Increased blood urea nitr... |
OMIM:223900 |
Atypical Werner Syndrome |
|
Failure to thrive, Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, Ins... |
ORPHA:79474 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Lipodystrophy, Insulin resistance, Flexion contracture, Hyperinsulinemia, Dysphagia, Failure to t... |
OMIM:613327 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Enuresis nocturna, Depressed nasal bridge, Obesity, Broad nasal tip |
OMIM:619680 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Wilson Disease |
|
Weight loss, Failure to thrive, Increased body weight, Abnormality of the menstrual cycle |
ORPHA:905 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con... |
ORPHA:36234 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Momo Syndrome |
|
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Wide nasal base... |
ORPHA:2563 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae... |
ORPHA:1001 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Elevated circulating creatinine concentration, Glomerular sclerosis, Nephropathy, Co... |
ORPHA:247691 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormal nasal morphology, Truncal obesity, Hypospadias |
ORPHA:3224 |
Distal Deletion 12Q |
|
Diabetes mellitus, Anteverted nares, Unilateral cryptorchidism, Maturity-onset diabetes of the yo... |
ORPHA:96149 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Obesity, Abnormal neuron morphology, Abnormality of neuronal migration |
ORPHA:163681 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Cohen Syndrome |
|
Small for gestational age, Prominent nasal bridge, Decreased response to growth hormone stimulati... |
OMIM:216550 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Enuresis, Obesity, Decreased body weight |
ORPHA:589821 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Emotional lability, Depression, Deme... |
ORPHA:309271 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Optic nerve dysplasia, Obesity, Lateral ventricle dilata... |
OMIM:617296 |
Desbuquois Dysplasia 1 |
|
Short nose, Concave nasal ridge, Depressed nasal bridge, Obesity |
OMIM:251450 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Broad nasal tip, Abnormal temper tantrums, Abnormal social behavior, Abnormal repe... |
ORPHA:530983 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Depressed nasal bridge, Hypercalcemia, Precocious puber... |
ORPHA:369837 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... |
ORPHA:231226 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Elevated circulating C-reactive protein concentration, Elevated circulating creatini... |
ORPHA:91500 |
17Q24.2 Microdeletion Syndrome |
|
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Wide nasal b... |
ORPHA:529962 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Perisylvian polymicrogyria, Anteverted nares, Prominent nasal bridge, Obesity |
OMIM:618443 |
White-Sutton Syndrome |
|
Duplicated collecting system, Depressed nasal bridge, Optic nerve hypoplasia, Broad nasal tip, Ob... |
OMIM:616364 |
1P36 Deletion Syndrome |
|
Depressed nasal bridge, Abnormal repetitive mannerisms, Polyphagia, Wide nasal bridge, Depressed ... |
ORPHA:1606 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... |
ORPHA:231214 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci... |
ORPHA:769 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Failure to thrive... |
ORPHA:71212 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Generalized lipodystro... |
ORPHA:79086 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Emotional lability, Abnormal social behavior, Progressive psychomotor deterioration, Short attent... |
ORPHA:309263 |
X-Linked Intellectual Disability, Hedera Type |
|
Obesity |
ORPHA:93952 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin |
OMIM:614008 |
White-Kernohan Syndrome |
|
Hydroureter, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Dysplastic corp... |
OMIM:619426 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Renal steatosis... |
ORPHA:412 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Insulin-Like Growth Factor I, Resistance To |
|
Diabetes mellitus, Wide nasal bridge, Increased circulating insulin-like growth factor 1 concentr... |
OMIM:270450 |
Achondroplasia |
|
Depressed nasal bridge, Short nasal bridge, Anteverted nares, Obesity |
ORPHA:15 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Momo Syndrome |
|
Overgrowth, Wide nasal bridge, Obesity |
OMIM:157980 |
Occipital Horn Syndrome |
|
Bladder diverticulum, Recurrent urinary tract infections, Abnormality of the sense of smell |
ORPHA:198 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Thrombocytopenia, Persistence of... |
OMIM:260400 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Partial agenesis of the corpus callosum, Elevated circulating creatinine con... |
OMIM:617478 |
Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent urinary tract infections, Overweight, Obesity, Lateral ventricle dilatation, Decreased ... |
OMIM:619229 |
Glycogen Storage Disease Ia |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyperuricemia, ... |
OMIM:232200 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentra... |
ORPHA:116 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Optic atrophy, Depressed nasal bridge, Obesity |
OMIM:618493 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Increased circulating ferritin concentration, Oroticaciduria, Intraalveolar phosph... |
OMIM:222700 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Cryptorchidism, Wide nose, Obesity |
OMIM:616078 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC... |
ORPHA:90790 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Prominent nasal bridge, Precocious puberty, Obesity, Type I diabetes mellitus, Moderate albuminur... |
OMIM:619269 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Depressed nasal bridge, Broad nasal tip, Dilatation of renal calices, Bulbous nose, Wide nasal br... |
ORPHA:466950 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... |
ORPHA:90038 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Prominent nasal bridge, Choanal atresia, Agangl... |
ORPHA:567 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... |
OMIM:219080 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... |
ORPHA:99889 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia |
ORPHA:99867 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Obesity |
ORPHA:261197 |
Glycogen Storage Disease Ib |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyperuricemia, ... |
OMIM:232220 |
White-Sutton Syndrome |
|
Duplicated collecting system, Depressed nasal bridge, Broad nasal tip, Optic atrophy, Obesity |
ORPHA:468678 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Hyperlipidemia, Recurrent upper respiratory tract infections, H... |
OMIM:232240 |
Marburg Hemorrhagic Fever |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Orchiti... |
ORPHA:99826 |
Adiposis Dolorosa |
|
Hypothyroidism, Obesity |
ORPHA:36397 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity |
ORPHA:69663 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Obesity |
ORPHA:174 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Severe failure to thrive, HbH hemoglobin |
ORPHA:423479 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Orthostatic hypotension, Obesity, Lateral ventricle dilatation |
ORPHA:2822 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Anteverted nares, Depressed nasal bridge, Hypospadias, Cryptorchidism, Triangular ... |
OMIM:309580 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Underdeveloped nasal alae, Precocious puberty, Prominent nose, Wide nasal bridge, Truncal obesity... |
ORPHA:2637 |
6Q Terminal Deletion Syndrome |
|
Hypospadias, Phimosis, Periventricular heterotopia, Obesity, Abnormality of neuronal migration, G... |
ORPHA:75857 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Depressed nasal bridge, Hair-pulling, Wide nasal bridge, Irritability, Dysphagia, ... |
ORPHA:447997 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Fg Syndrome Type 1 |
|
Choanal atresia, Prominent nose, Attention deficit hyperactivity disorder, Compulsive behaviors, ... |
ORPHA:93932 |
Joubert Syndrome 8 |
|
Optic disc pallor, Obesity |
OMIM:612291 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Depressed nasal bridge, Anteverted nares, Anterior pituitary hyp... |
OMIM:619534 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Angelman Syndrome Due To A Point Mutation |
|
Obesity |
ORPHA:411511 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... |
ORPHA:99226 |
Turner Syndrome |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g... |
ORPHA:881 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... |
ORPHA:904 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Abnormal renal morphology, Obesity |
OMIM:616562 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypospadias, Prominent nasal bridge, Prominent nose, Precocious puberty, Truncal obesity, Type II... |
OMIM:210720 |
Peripartum Cardiomyopathy |
|
Diabetes mellitus, Abnormality of thyroid physiology, Obesity |
ORPHA:563 |
3Q29 Microduplication Syndrome |
|
Wide nasal bridge, Obesity |
ORPHA:251038 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Op... |
OMIM:617157 |
Witteveen-Kolk Syndrome |
|
Wide nose, Anteverted nares, Prominent nasal bridge, Unilateral cryptorchidism, Depressed nasal b... |
OMIM:613406 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Dilatation of renal calices, Bulbous nose, Obesity, Wide... |
ORPHA:466943 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
Angelman Syndrome |
|
Obesity |
OMIM:105830 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Obesity |
ORPHA:98794 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Abnormality of the pineal gland, Obesity, Enuresis, Failure to thrive, Convex nasal ridge |
ORPHA:369950 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Obesity, Nephrolithiasis, Hydron... |
ORPHA:353281 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Wide nose, Anteverted nares, Abnormal cortical gyration, Aggressive behavior, Bulbous nose, Memor... |
ORPHA:314647 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Decreased circulating parathyroid hor... |
OMIM:188400 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Failure to thrive, Anteverted nares, Hypospadias, Overweight, Bulbous nose, Wide n... |
OMIM:619475 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Choa... |
ORPHA:199 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Flexion contracture, Abnormal hemoglobin, Anemia |
ORPHA:847 |
Rubinstein-Taybi Syndrome 1 |
|
Small for gestational age, Hypospadias, Premature thelarche, Prominent nose, Bilateral cryptorchi... |
OMIM:180849 |
Monosomy 22Q13.3 |
|
Renal dysplasia, Bulbous nose, Wide nasal bridge, Obesity, Vesicoureteral reflux, Recurrent pyelo... |
ORPHA:48652 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Recurrent urinary tract infections, Hypospadias, Abnormali... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Recurrent urinary tract infections, Hypospadias, Abnormali... |
ORPHA:353277 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Depressed nasal bridge, Bifid nose, Obesity |
OMIM:301066 |
Williams-Beuren Syndrome |
|
Nephrocalcinosis, Early onset of sexual maturation, Vesicoureteral reflux, Micropenis, Pelvic kid... |
OMIM:194050 |
Myhre Syndrome |
|
Cryptorchidism, Small for gestational age, Prominent nasal bridge, Obesity |
OMIM:139210 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Prominent nose, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:614748 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Umbilical hernia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309256 |
Hutchinson-Gilford Progeria Syndrome |
|
Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou... |
ORPHA:740 |
Desbuquois Dysplasia 2 |
|
Truncal obesity, Depressed nasal bridge |
OMIM:615777 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... |
OMIM:620185 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Depressed nasal bridge, Anteverted nares, Irritability, Prominent nasal tip, Abnormal social beha... |
ORPHA:1675 |
Carpenter Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Bilateral cryptorchidism, Cryptorchidism, Wide nasal br... |
OMIM:614976 |
Yellow Fever |
|
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula... |
ORPHA:99829 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Anteverted nares, Decreased response to growth hormone stimulation test, Hypospadias, Obesity, Ho... |
ORPHA:444077 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Optic atrophy, Obesity |
OMIM:614947 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... |
ORPHA:805 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Thick nasal alae, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Wide nasal bri... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Thick nasal alae, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Wide nasal bri... |
ORPHA:363958 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Depressed nasal bridge, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abno... |
OMIM:616393 |
Neutral Lipid Storage Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Obesity, Pineal cyst, Abnormal circulating creatine kina... |
ORPHA:98908 |
Diamond-Blackfan Anemia 21 |
|
Obesity |
OMIM:620072 |
1P21.3 Microdeletion Syndrome |
|
Short nose, Obesity, Broad nasal tip |
ORPHA:293948 |
Xylt1-Cdg |
|
Truncal obesity |
ORPHA:370930 |
Woodhouse-Sakati Syndrome |
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Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
African Trypanosomiasis |
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Narcolepsy, Irritability, Delirium, Aggressive behavior |
ORPHA:3385 |
Alkaptonuria |
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Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate |
OMIM:203500 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
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Obesity |
OMIM:250420 |
Primrose Syndrome |
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Diabetes mellitus, Anteverted nares, Hypergonadotropic hypogonadism, Depressed nasal bridge, Broa... |
OMIM:259050 |
Trichotillomania |
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Hair-pulling, Compulsive behaviors |
OMIM:613229 |
Tako-Tsubo Cardiomyopathy |
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Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration |
ORPHA:66529 |
Ulnar-Mammary Syndrome |
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Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Obesity, Bicornuate ut... |
OMIM:181450 |
Chronic Thromboembolic Pulmonary Hypertension |
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Increased HDL cholesterol concentration, Obesity, Elevated circulating C-reactive protein concent... |
ORPHA:70591 |
Steinert Myotonic Dystrophy |
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Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Mend Syndrome |
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Hyperactivity, Prominent nasal bridge, Aggressive behavior, Abnormal nasal bridge morphology, Abn... |
ORPHA:401973 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Truncal obesity |
OMIM:301072 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent nose, Bulbous nose, T... |
OMIM:612474 |
Pallister-Killian Syndrome |
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Small scrotum, Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchidism, Wide nasal ... |
OMIM:601803 |
Pmm2-Cdg |
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Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypogonadism, Elevated circulating g... |
ORPHA:79318 |