Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... |
ORPHA:83469 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov... |
ORPHA:280356 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Telangiectasia of the skin, Microcephaly, Crypto... |
ORPHA:99812 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Lymphopenia, Failure to thrive, Diabetes mellitus, Telangiectasia ... |
ORPHA:100 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Torticollis, Brain neoplasm, Metrorrhagia, Pelvic mass, Anorexia, Preco... |
ORPHA:370348 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
Classic Galactosemia |
|
Lethargy, Male infertility, Hepatomegaly, Premature ovarian insufficiency, Ataxia, Cryptorchidism... |
ORPHA:79239 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Breast carcinom... |
ORPHA:157798 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve... |
ORPHA:562 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hypert... |
ORPHA:79084 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased muscle mass, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decrea... |
OMIM:229070 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Myocardial infarction, Congestive heart failure, Insulin resistance, Obesit... |
OMIM:615703 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... |
ORPHA:528 |
Subependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... |
ORPHA:251639 |
Ependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... |
ORPHA:251636 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Sarcoma, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm o... |
ORPHA:163634 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Frontal bossing, Penile freckling, Large for gestational age, Splenomegaly, Obesity... |
OMIM:605309 |
Werner Syndrome |
|
Skeletal muscle atrophy, Myocardial infarction, Squamous cell carcinoma, Neoplasm, Thyroid carcin... |
ORPHA:902 |
Pparg-Related Familial Partial Lipodystrophy |
|
Dysmenorrhea, Maternal diabetes, Hepatic steatosis, Hepatomegaly, Calf muscle pseudohypertrophy, ... |
ORPHA:79083 |
Familial Colorectal Cancer Type X |
|
Flexion contracture, Neoplasm of the breast, Renal neoplasm, Pancreatic adenocarcinoma, Basal cel... |
ORPHA:440437 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Neoplasm, Eleva... |
OMIM:300068 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... |
ORPHA:145 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Nephroblastoma, Diasta... |
OMIM:130650 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Benign neoplasm of ... |
ORPHA:144 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... |
ORPHA:3085 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Preeclampsia |
|
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Elevated dia... |
ORPHA:275555 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morpholo... |
ORPHA:314478 |
Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Dolichocephaly, Cryptorchidism, Hyperinsulinemia, Abnormal pan... |
ORPHA:2849 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Insulin resist... |
ORPHA:2348 |
Hepatic Adenomas, Familial |
|
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus,... |
OMIM:604367 |
Polyembryoma |
|
Abnormal peritoneum morphology, Abdominal mass, Abnormal circulating gonadotropin concentration, ... |
ORPHA:180229 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... |
OMIM:240950 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Mic... |
OMIM:614129 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Dehydration, Sex reversal, Ambiguous ge... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Dehydration, Sex... |
ORPHA:289548 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Increased circulating gonadotropin ... |
ORPHA:163976 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Dysmenorrhea, Increased sarcoplasmic glycogen, Increased body weight, He... |
ORPHA:264580 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... |
OMIM:602390 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Broad-based gait, Hyperactivity, Camptodactyly of finger, Cachexia, Microcep... |
ORPHA:85293 |
Mosaic Trisomy 9 |
|
Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal hear... |
ORPHA:99776 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Carney Complex |
|
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... |
ORPHA:1359 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Jaundice, ... |
ORPHA:1333 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Astrocytoma, Calf muscle pseudohypertrophy, Hypertriglyceridemi... |
ORPHA:79086 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Vaginal neoplasm, Pelvic mass, Soft tissue neoplasm... |
ORPHA:2126 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Proximal muscle weakness in upper limbs, Hypertriglyceridemia, Decreased adiponecti... |
ORPHA:435660 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Abnorm... |
ORPHA:400 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... |
ORPHA:276399 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Hepatic steatosis, Polycystic ovaries |
OMIM:608709 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:435651 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Microcephaly, Cryptorchidism, Obesity, Weight loss,... |
ORPHA:251071 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Subcutaneous lipoma, Fibroadenoma of the breast, Progressive macrocephaly, Thyro... |
OMIM:158350 |
Megalencephaly |
|
Atrial septal defect, Frontal bossing, Dolichocephaly, Long penis, Prominent occiput, Truncal obe... |
ORPHA:2477 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Visceral angiomatosis, Congestive heart failure, Ovarian neoplasm, Neoplasm of the breast, Macroc... |
ORPHA:137608 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... |
OMIM:615842 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Esophageal neoplasm, Weight loss, Dysphagia, Ascites |
ORPHA:2198 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Ovarian c... |
OMIM:246200 |
Bangstad Syndrome |
|
Ataxia, Microcephaly, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries,... |
ORPHA:1227 |
Premature Ovarian Failure 2B |
|
Primary amenorrhea, Premature ovarian insufficiency, Osteoporosis, Female infertility |
OMIM:300604 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... |
ORPHA:3000 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:79085 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Increased circul... |
ORPHA:168563 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp... |
OMIM:301045 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Ovarian neoplasm, Weight loss, Macroglossia, Neoplasm, Neoplasm of the breast, N... |
ORPHA:2221 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hemangiomatosis, Polyhydramnios, Visceral angiomatosis, Thrombocytopenia, Hydrops f... |
ORPHA:2123 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Edema, Cryptorchidism, Thrombocytopenia, Cholestasis, Perimembra... |
OMIM:608104 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Nonimmune hydrops fetalis, Microcephaly, Splenomegaly, Flexion contracture, Cardiom... |
OMIM:608540 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
Monosomy 18Q |
|
Astrocytoma, Left-to-right shunt, Absence of the pulmonary valve, Slender build, Microcephaly, Bi... |
ORPHA:1600 |
Ovarian Fibroma |
|
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Gonadal calcif... |
ORPHA:314473 |
Schöpf-Schulz-Passarge Syndrome |
|
Squamous cell carcinoma, Basal cell carcinoma, Facial telangiectasia, Ovarian neoplasm |
ORPHA:50944 |
Turcot Syndrome With Polyposis |
|
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... |
ORPHA:99818 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Increased m... |
OMIM:610717 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Ketotic hypoglycemia, Dysmenorrhea, Limb-girdle muscle weakness, Increas... |
ORPHA:79240 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Brain neoplasm, Prolonged QRS complex, Decreased response to growth horm... |
ORPHA:273 |
Familial Adenomatous Polyposis |
|
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Ataxia, Facial hypotonia, Microcephaly, Flexion contracture, Obesity, Choreoathetos... |
OMIM:300055 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619672 |
Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Hyperactivity, Rhabdomyosarcoma, Large for g... |
ORPHA:77301 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Polyhydramnios, Microcephaly, Splenomegaly, Ascites, Anemia, Ol... |
ORPHA:1046 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Hypogonadism, Gait disturbance, Congenital muscular dystrophy, Abnorma... |
ORPHA:1875 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elev... |
OMIM:617872 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Fanconi Anemia, Complementation Group S |
|
Ataxia, Microcephaly, Breast carcinoma, Ovarian neoplasm, Ovarian carcinoma, Failure to thrive, A... |
OMIM:617883 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Congestive heart failure, Abnorma... |
ORPHA:3077 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Primary hypercortisolism, Chroni... |
ORPHA:100079 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Generalized muscular appearance from birth, Elevated hepatic tra... |
OMIM:269700 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Microcephaly, Cryptorchidism, Increased circulating ... |
ORPHA:163971 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... |
OMIM:608594 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Medulloblastoma |
|
Elevated hepatic transaminase, Ataxia, Cerebellar hemorrhage, Medulloblastoma, Progressive macroc... |
ORPHA:616 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... |
OMIM:618187 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism, Relative macrocephaly |
OMIM:300428 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant platelets, Macrothrombocytope... |
OMIM:155100 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Rudiger Syndrome |
|
Frontal bossing, Flexion contracture, Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
Ovarian Cancer |
|
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma |
OMIM:167000 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Macrocephaly, Cardiomegaly |
OMIM:300886 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Eleva... |
OMIM:617253 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Cardiomegaly, Lethargy, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypog... |
ORPHA:465508 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... |
OMIM:620311 |
16Q24.3 Microdeletion Syndrome |
|
Frontal bossing, Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Mitral regurg... |
ORPHA:261250 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Abnormality of the menstrua... |
ORPHA:90308 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Subcutaneous lipoma, Fibroadenoma of the breast, Progressive macrocephaly, Thyro... |
OMIM:615109 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Mitral valve prolapse, Macrocephaly, Re... |
OMIM:300624 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Microcephaly, Polycystic ovaries, Truncal obesity, Attention def... |
ORPHA:284180 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Dysmenorrhea, Hepatic steatosis, Muscle hypertrophy of the lower extremities, Hepatomegaly, Decre... |
ORPHA:280365 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... |
OMIM:610198 |
Basal Cell Nevus Syndrome 1 |
|
Frontal bossing, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastom... |
OMIM:109400 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
49,Xyyyy Syndrome |
|
Eunuchoid habitus, Turricephaly, External genital hypoplasia, Abnormality of the testis size, Imp... |
ORPHA:99330 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Nephroblastoma, Trigonocephaly, Cardiomegaly, Microcephaly, Inability to walk, ... |
ORPHA:97297 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Abnormal reproductive system morphology, Congestive heart failure, Inability to walk, Bra... |
ORPHA:70472 |
Myotonic Dystrophy 2 |
|
Tachycardia, Weakness of facial musculature, Oligozoospermia, Right bundle branch block, Prematur... |
OMIM:602668 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Poems Syndrome |
|
Diabetes mellitus, Lymphoproliferative disorder, Polycythemia, Thrombocytosis, Edema, Abnormality... |
ORPHA:2905 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Aicardi-Goutieres Syndrome 9 |
|
Edema, Hepatic fibrosis, Micropenis, Hypothyroidism, Hepatic steatosis, Self-mutilation, Hepatome... |
OMIM:619487 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia, Fasting hypogly... |
ORPHA:2298 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Cyanosis, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Left ventr... |
ORPHA:335 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Neoplasm of the larynx, Anorexia, Oral-pharyngeal dysphagi... |
ORPHA:100083 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Gonadal dysgenesis, Ventricular septal defect, Biparietal narrowing, Polycystic ovaries |
ORPHA:1770 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Fasting hyperinsulinemia, Neoplasm of the breast, Hyperglycemia, Hepatic... |
ORPHA:79474 |
Mantle Cell Lymphoma |
|
B-cell lymphoma, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Microcep... |
ORPHA:858 |
Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Orofaciodigital Syndrome Type 6 |
|
Frontal bossing, Ataxia, Hamartoma of tongue, Bilateral cryptorchidism, Abnormal heart morphology... |
ORPHA:2754 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, P... |
ORPHA:494444 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... |
OMIM:618723 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Ataxia, Portal hyperte... |
ORPHA:1454 |
Fragile X Syndrome |
|
Frontal bossing, Mitral valve prolapse, Self-injurious behavior, Attention deficit hyperactivity ... |
ORPHA:908 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Frontal bossing, Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcin... |
ORPHA:210548 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Subcutaneous lipoma, Progressive macrocephaly, Thyroiditis, Breast carcinoma, Hy... |
OMIM:615108 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Impotence, Card... |
OMIM:606069 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism, Macrocephaly |
ORPHA:85320 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitu... |
OMIM:268020 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Vipoma |
|
Anorexia, Dehydration, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematoc... |
ORPHA:97282 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Pelvic girdle muscle atrophy, Elevated circulating luteinizing hormone level, ... |
ORPHA:3044 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Secondary am... |
OMIM:613313 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Toluene Embryopathy |
|
Cryptorchidism, Biparietal narrowing, Microcephaly |
ORPHA:1920 |
Basal Cell Nevus Syndrome 2 |
|
Frontal bossing, Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Macrocephaly... |
OMIM:620343 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Microcephaly, Cardiomyopathy, Myopathy, Lethargy, Failure to thrive, Hepati... |
ORPHA:26792 |
Distal Deletion 10P |
|
Cryptorchidism, Hypoplasia of penis, Microcephaly, Polycystic ovaries |
ORPHA:1580 |
Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Midface retrusion, Flat occiput, Ventricular septal defect, Polyhydramnios, Cryptor... |
ORPHA:1655 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Maternal diabetes, Large ... |
ORPHA:276580 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Failure to thrive, Frontal bossing, Edema, Microcephaly, Pericardial effusion, Brac... |
OMIM:608776 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Intracran... |
ORPHA:90795 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Atax... |
ORPHA:453533 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intrahepatic cholestasis with episodic jaundice, Anorexia, Carcinoid tumor, Biliary tract obstruc... |
ORPHA:100085 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Macrocephaly |
OMIM:300706 |
Somatostatinoma |
|
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... |
ORPHA:97283 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, External genital hypoplasia, Partial atrioventricular canal defect, Ob... |
OMIM:615996 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Brachycephaly, Dysmetria, Hypothyroidism, Hepatomegaly, Ataxia, Facial palsy, Aplasia/Hypoplasia ... |
ORPHA:456312 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Large for gestational age... |
ORPHA:276575 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Hyper... |
OMIM:615381 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
Cardiofaciocutaneous Syndrome |
|
Frontal bossing, Abnormal heart valve morphology, Failure to thrive in infancy, Lymphedema, Crypt... |
ORPHA:1340 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... |
OMIM:300869 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, M... |
ORPHA:90790 |
Ppoma |
|
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... |
ORPHA:97278 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Flat occiput, Ventricular septal defect, Polyhydramnios, Thyroid lymphangiectasia, ... |
OMIM:235255 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Lymphocytosis, Cellulitis, Failure to thrive, Thrombocytopenia |
OMIM:617718 |
Premature Ovarian Failure 14 |
|
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... |
OMIM:618014 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Decreased c... |
ORPHA:90674 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Camptodactyly of finger, Brachycephaly, Attention deficit hyperactivity dis... |
ORPHA:776 |
Grfoma |
|
Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase... |
ORPHA:97261 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Mulibrey Nanism |
|
Hepatomegaly, Frontal bossing, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydro... |
OMIM:253250 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Anorexia, Splenomegaly, Lymphoma, Breast carcinoma, Hyperhidrosis,... |
ORPHA:86893 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Endocardial Fibroelastosis |
|
Hypoplasia of penis, Hypoglycemia, Cryptorchidism, Congestive heart failure, Endocardial fibroela... |
ORPHA:2022 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large for gestational age, Episod... |
ORPHA:324575 |
Fibrous Dysplasia Of Bone |
|
Diabetes mellitus, Precocious puberty in females, Hyperthyroidism, Testicular neoplasm, Elevated ... |
ORPHA:249 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
49,Xxxyy Syndrome |
|
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... |
ORPHA:261534 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility |
OMIM:261550 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Cyanosis, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormo... |
OMIM:250790 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity, Macrocephaly |
ORPHA:1193 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... |
ORPHA:1772 |
Thrombocytopenia 1 |
|
Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm... |
OMIM:313900 |
Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... |
OMIM:271500 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated... |
OMIM:269920 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Insulin resistance, Medulloblastoma, Hyperlipidemia, Abnormal... |
ORPHA:199276 |
Partington Syndrome |
|
Macroorchidism, Gait disturbance, Facial telangiectasia |
ORPHA:94083 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Ataxia, Microcephaly, Increased circulating gonado... |
ORPHA:243 |
Craniosynostosis 1 |
|
Frontal bossing, Turricephaly, Craniosynostosis, Sagittal craniosynostosis, Oxycephaly, Scaphocep... |
OMIM:123100 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Elevated hepatic transaminase, Decreased serum testosterone concentrati... |
ORPHA:2959 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility |
OMIM:617593 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Sialidosis Type 2 |
|
Hepatomegaly, Skeletal muscle atrophy, Ataxia, Splenomegaly, Flexion contracture, Hydrops fetalis... |
ORPHA:87876 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Failure to thrive, Skeletal muscle atrophy, Elevated circulating aspartate aminotra... |
OMIM:257200 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... |
OMIM:615395 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Inability to walk, Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in low... |
ORPHA:63273 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Frontal bossing, Ataxia, Decreased response to growth hormone stimulation test, Small for gestati... |
ORPHA:3363 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating g... |
ORPHA:64739 |
Legius Syndrome |
|
Hyperactivity, Acute monocytic leukemia, Non-small cell lung carcinoma, Paroxysmal atrial tachyca... |
ORPHA:137605 |
Myh9-Related Disease |
|
Increased mean platelet volume, Sensorineural hearing impairment, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Clark-Baraitser syndrome |
|
Macroorchidism, Frontal bossing, Obesity, Macrocephaly |
OMIM:300602 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Labial pseudohypertrophy, Insulin-resista... |
OMIM:151660 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... |
ORPHA:139507 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated c... |
OMIM:619386 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersple... |
ORPHA:98850 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Polyhydramnios, Large for gestational age, Obesity, Truncal obesity, Fasting hypogl... |
OMIM:240900 |
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 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Breast carcinoma, Hamartoma... |
OMIM:175200 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Microcephaly, Cryptorchidism, Dehydrat... |
OMIM:618958 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Luscan-Lumish Syndrome |
|
Aggressive behavior, Irregular menstruation, Obesity, Polycystic ovaries, Macrocephaly, Polyphagia |
OMIM:616831 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Primary ... |
OMIM:612526 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites |
ORPHA:890 |
Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Failure to thrive, Microcephaly, Intrahepatic cholestasis, Ani... |
ORPHA:46059 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Male infertility, Immotile sperm |
OMIM:618091 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidros... |
ORPHA:276556 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Perlman Syndrome |
|
Hypoglycemia, Renal hamartoma, Edema, Large for gestational age, Polyhydramnios, Cryptorchidism, ... |
OMIM:267000 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Ataxia, Failure to thrive in infancy, Splenomegaly, Aplasia/Hypoplasia of the abdom... |
ORPHA:834 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis |
ORPHA:85274 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmoni... |
OMIM:619433 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogona... |
OMIM:203800 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Glioma... |
OMIM:251260 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
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 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Galactokinase Deficiency |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Smal... |
ORPHA:79237 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Ventricular septal defect, Microcephaly, Medulloblastoma, Neuroblastoma, Nephrob... |
OMIM:610832 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
Central Precocious Puberty In Male |
|
Astrocytoma, Abnormality of the testis size, Craniopharyngioma, Aggressive behavior, Pituitary mi... |
ORPHA:649929 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Hepatic steatosis, Hyperactivity, Hypospadias, Ventricular septal defect, C... |
ORPHA:254346 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Cyanosis, Splenomegaly, Congestive heart failure, Hydrops ... |
ORPHA:2414 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Impulsivity |
OMIM:300143 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Distal amyotrophy, Gait disturbance, Hepatic steatosis, Foot dorsi... |
OMIM:618400 |
Glucagonoma |
|
Anorexia, Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol lev... |
ORPHA:97280 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Failure to thrive, Portal hypertension, Edema, Polyhydramnios, Hydrops f... |
OMIM:232500 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Decreased body weight, Neonat... |
ORPHA:1667 |
Lhermitte-Duclos Disease |
|
Ataxia, Fibroadenoma of the breast, Ovarian neoplasm, Trichilemmoma, Macroglossia, Macrocephaly, ... |
ORPHA:65285 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer... |
OMIM:619048 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism, Microcephaly |
ORPHA:139474 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Skeletal muscle atrophy, Nonimmun... |
ORPHA:367 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Flat occiput, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, ... |
ORPHA:2232 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Dolichocephaly, Splenomegaly, Abnormality of the parathyroid gland, Polycysti... |
ORPHA:2969 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Facial edema, Spleno... |
OMIM:256550 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Insulin resistance, Hyperinsulinemia, ... |
ORPHA:363400 |
Proteus Syndrome |
|
Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Lymphedema, Renal cyst, Neopla... |
ORPHA:744 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
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 |
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 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormality of the pancreas, Abnormality of the spleen, Abnormality ... |
ORPHA:543 |
Glioma Susceptibility 3 |
|
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... |
OMIM:613029 |
Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
Chylous Ascites |
|
Neoplasm, Ascites, Pancreatitis, Lymphedema |
ORPHA:1160 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71526 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Soft tissue sarcoma, Anorexia, Weight loss |
ORPHA:2023 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Frontal bossing, Very long chain fatty acid accumula... |
OMIM:264470 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Ventricular septal defect, Small for gestational age, Cardiomegaly, Polyhydramnios, ... |
OMIM:616897 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Menorrh... |
OMIM:231200 |
Perrault Syndrome 1 |
|
Ataxia, Increased circulating gonadotropin level, Primary amenorrhea, Gait ataxia, Gonadal dysgen... |
OMIM:233400 |
Smith-Lemli-Opitz Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ventricular... |
ORPHA:818 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Microcephaly, Weight loss, Neoplasm of the skin, Abnormal testis morphology |
ORPHA:317 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Dilated cardiomyop... |
ORPHA:79230 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Pediatric-Onset Graves Disease |
|
Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Increased circulating T4 concentration, Hepato... |
ORPHA:525731 |
Frasier Syndrome |
|
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma |
OMIM:136680 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Aplastic anemia, Splenomegaly, Lymphoma... |
OMIM:615122 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size |
ORPHA:261483 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypoglycemia, Small for gestational age, Cardiomegaly, Pericardial effusion, P... |
OMIM:614702 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Inability to wal... |
ORPHA:324410 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the ... |
ORPHA:69735 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Delayed puberty, Anemia, ... |
ORPHA:79259 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Jaundice, Congestive heart failure, Pulmon... |
ORPHA:615 |
Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Adr... |
ORPHA:75233 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Decreased muscle mass, Foot dorsiflexor weakness, Hypergonadotropi... |
ORPHA:298 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Polyhydramnios, Facial ... |
OMIM:160900 |
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 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Polycystic liver disease, Renal cyst |
OMIM:174050 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea... |
OMIM:614962 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Re... |
ORPHA:137675 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatic steatosis, Decreased muscle mass, Hypertriglyceridemia, Mi... |
OMIM:619013 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Hepatomegaly, Elevated pulmo... |
ORPHA:57777 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Microcephaly,... |
OMIM:210900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Microcephaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis, Midface retrusion |
OMIM:615119 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Hemangioma, Thrombocytopen... |
OMIM:112200 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Small for gestational age, Diastasis recti, Elevated circulating luteinizing ho... |
OMIM:618419 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... |
OMIM:251880 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Ataxia, Cache... |
ORPHA:42 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Biparietal narrowing, Renal cyst |
ORPHA:2031 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypertension,... |
ORPHA:231632 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Bleeding Disorder, Platelet-Type, 21 |
|
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... |
OMIM:617443 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Intr... |
ORPHA:53035 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... |
OMIM:613762 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Flat occiput, Ataxia, External genital hypoplasia, H... |
ORPHA:79322 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Midface retrusion, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Hypothyroidism, ... |
OMIM:616263 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia, Microcephaly, Progressive cerebellar ataxia, Failure to thrive |
ORPHA:67046 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Kennedy Disease |
|
Skeletal muscle atrophy, Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erecti... |
ORPHA:481 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Gener... |
ORPHA:171 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Anorexia, Hypersplenism, Splenomegaly, Pericardial effusion, Thromboc... |
ORPHA:77259 |
Short Syndrome |
|
Frontal bossing, Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellit... |
OMIM:269880 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the nose, Enlarged polycystic... |
ORPHA:2869 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Skeletal muscle hy... |
OMIM:613877 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Palpebral edema, Obesity |
ORPHA:85286 |
Gne Myopathy |
|
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... |
ORPHA:602 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Sandhoff Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Congestive heart failure, Abnormal glycosphingolipid metaboli... |
ORPHA:796 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Prolonged QT interval, Hypoplasia of penis, Ataxia, Bilateral cryp... |
ORPHA:66634 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Neoplasm of the heart, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Brachycep... |
OMIM:201750 |
Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Anemia, Hypertrophic cardiomyopathy, Ascites, Thr... |
ORPHA:295 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:620196 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Abnormal heart valve morphology, Ataxia, Pericardial effusion, Splenomegaly, Angioe... |
ORPHA:36412 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Cardiomyopathy, Impotence, Cirrhosi... |
OMIM:604250 |
Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
Distal 22Q11.2 Microduplication Syndrome |
|
Frontal bossing, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Camptodacty... |
ORPHA:261337 |
Mucolipidosis Type Iv |
|
Ataxia, Microcephaly, Aplasia/Hypoplasia of the abdominal wall musculature, Gait disturbance, Bip... |
ORPHA:578 |
Pituitary Gigantism |
|
Frontal bossing, Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, In... |
ORPHA:99725 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Micropenis, Failure to thrive, Cysto... |
OMIM:613861 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Edema, Flexion contracture, Renal cyst, Dysmetria, Hepatic fibrosis, Hypocholesterolemia, Hypothy... |
OMIM:212065 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Ataxia, Myocardial infarction,... |
ORPHA:3452 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Polyphagia, Hyperinsulinemia, Obesity |
OMIM:620195 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,... |
OMIM:619991 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogo... |
ORPHA:91351 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Infantile Systemic Hyalinosis |
|
Telangiectasia of the skin, Camptodactyly of finger, Lymphedema, Steatorrhea, Polycystic ovaries,... |
ORPHA:2176 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Frontal bossing, Hyperactivity, Ventricular septal defect, Aggressive behav... |
OMIM:309520 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Glucose intolerance, Hepatic steatosis, Increased circulating cortisol lev... |
ORPHA:189427 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Hydrops Fetalis |
|
Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial eff... |
ORPHA:1041 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hyperactivity, Restlessne... |
ORPHA:247585 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Atri... |
ORPHA:371428 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... |
OMIM:158320 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Reduced systolic function, Failure to thrive in infancy, Microcyt... |
OMIM:618805 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi... |
ORPHA:276152 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Bardet-Biedl Syndrome 5 |
|
Micropenis, Hypogonadism, External genital hypoplasia, Obesity |
OMIM:615983 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por... |
ORPHA:369 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Elevated circula... |
ORPHA:97287 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Fetal Alcohol Syndrome |
|
Congenital diaphragmatic hernia, Microcephaly, Visceral angiomatosis, Biparietal narrowing, Atria... |
ORPHA:1915 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... |
ORPHA:95619 |
Apert Syndrome |
|
Frontal bossing, Cloverleaf skull, Ovarian neoplasm, Hypertension, Acrobrachycephaly, Brachyturri... |
ORPHA:87 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Lymphoma, Hyperhidrosis, Lymphadenopathy, Weight lo... |
ORPHA:391 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Hypospadias, Abnormal pulmonary valve morphology, Camptodactyly of finger, Microcep... |
ORPHA:1194 |
Orofaciodigital Syndrome I |
|
Frontal bossing, Hamartoma of tongue, Microcephaly, Pancreatic cysts, Dolichocephaly, Abnormal he... |
OMIM:311200 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance, Gait disturbance, Multiple lipomas |
ORPHA:2398 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi... |
OMIM:278000 |
Macrocephaly, Benign Familial |
|
Frontal bossing, Macrocephaly, Biparietal narrowing, Dolichocephaly |
OMIM:153470 |
C Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive in infancy, Polyhydramnios, Midline facial capill... |
ORPHA:1308 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Calf muscle hypertrophy, Dysphagia, Limb muscle weakness, Testicular atrophy |
OMIM:313200 |
46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Irregula... |
OMIM:615238 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spl... |
ORPHA:2470 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility, Ataxia |
OMIM:613909 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Type II diabet... |
OMIM:616860 |
Tetraploidy |
|
Aplasia/Hypoplasia of the thymus, Biparietal narrowing, Microcephaly |
ORPHA:3305 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ... |
OMIM:618234 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abno... |
OMIM:209900 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Hepatic steatosis, Accessory spleen, Hepatomegaly, Lymphadenopa... |
OMIM:619418 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Hamartoma of tongue, Edema, Polyhydramnios, Splenomegaly... |
OMIM:269860 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,... |
ORPHA:300373 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Akinesia, Cardiomegaly, Polyhydramnios, Splenomegaly, Th... |
OMIM:608013 |
Joubert Syndrome |
|
Ataxia, Situs inversus totalis, Gait disturbance, Biparietal narrowing, Abnormality of the hypoth... |
ORPHA:475 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Abnormality of the ute... |
ORPHA:201 |
Crouzon Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Brachycephaly, Lambdoidal craniosynostosis, Coronal c... |
OMIM:123500 |
Beckwith-Wiedemann Syndrome |
|
Neonatal hypoglycemia, Cardiomegaly, Large for gestational age, Polyhydramnios, Congenital diaphr... |
ORPHA:116 |
Griscelli Syndrome |
|
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal edema,... |
ORPHA:381 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Hepatocellular ... |
OMIM:256810 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancr... |
ORPHA:276608 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Hyperlipidemi... |
OMIM:232400 |
Joubert Syndrome With Ocular Defect |
|
Ataxia, Dextrocardia, Gait disturbance, Biparietal narrowing, Abnormality of the hypothalamus-pit... |
ORPHA:220493 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Anorexia, Splenomegaly, Thrombocytopenia, Dehydration, Choreoathetosis, Cardiomyopa... |
ORPHA:79312 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Di... |
ORPHA:93111 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Hyperhidrosis, Abnormal left ventricular function, Leukopenia, Cho... |
ORPHA:99827 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Microcephaly, Secundum atrial s... |
OMIM:617397 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Car... |
OMIM:201475 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Primary hyperparathyroidism, Dysphagia, Abnormal liver parenchym... |
ORPHA:1332 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity, Renal cyst |
OMIM:615987 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal... |
ORPHA:79124 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... |
ORPHA:100086 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... |
ORPHA:2137 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... |
OMIM:232700 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Ovarian cyst, Menorrhagia, Joint... |
ORPHA:327 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormal EKG, Ataxia, Edema, Dysmetria, Telangiectasia, Hepatosplenomegaly, Abnorma... |
ORPHA:93400 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Microcephaly, Mitral valve prolapse, Macrocephaly, Macroorchidism, Failure to thrive |
OMIM:618874 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Hypertriglyceridemia, Ovotestis, C... |
OMIM:610644 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Secondary microcephaly, Cystic renal dys... |
OMIM:613730 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... |
ORPHA:436182 |
X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Hypospadias, Cryptorchidism, Inability to walk, Unsteady gait, Brachycepha... |
ORPHA:3063 |
Peho Syndrome |
|
Palpebral edema, Microcephaly, Flexion contracture, Pedal edema, Peripheral edema, Biparietal nar... |
ORPHA:2836 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Brachycephaly, Renal cyst, Abnormality of the liv... |
ORPHA:1606 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Frontal bossing, Hyperactivity, Ventricular septal defect, Microcephaly, Precocious puberty, Cryp... |
ORPHA:3306 |
Intellectual Disability, Buenos-Aires Type |
|
Microcephaly, Abnormal calvaria morphology, Abnormal cardiac septum morphology, Biparietal narrow... |
ORPHA:3079 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Failure to thrive in infancy, Posteriorly rotated ears, Cryptorchidism, Thrombocytope... |
OMIM:611209 |
Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Edema, Peritonitis, Leukocytosis, Neutropenia, Abnormal heart m... |
ORPHA:391673 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Diabetes mellitus, Supraventricular arrhythmia, Cardiomyopathy, Difficulty walking, Leg muscle st... |
ORPHA:320360 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ... |
ORPHA:699 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, True hermaphroditism, Nephroblastoma, Septate vagina, Congen... |
OMIM:194080 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Rhabdoid Tumor Predisposition Syndrome 1 |
|
Medulloblastoma, Choroid plexus carcinoma |
OMIM:609322 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Ataxia, Microcephaly, Decreased liver ... |
OMIM:246900 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Testicular neoplasm, Shortened QT interva... |
ORPHA:143 |
Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... |
OMIM:620135 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Aggressive behavior, Hypertension, Hypog... |
ORPHA:97229 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Dehydratio... |
ORPHA:90794 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Gastrointestinal hemorrhage, Primary testicular failure, Congesti... |
ORPHA:85450 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Atrial septal defect, Multicystic kidney dysplasia, Frontal bossing, Vagina... |
ORPHA:1052 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormal... |
ORPHA:54251 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Frontal bossing, Abnormal mitral valve morphology, Microcephaly, Brachycephaly, Biparietal narrow... |
ORPHA:1292 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Ataxia, Situs inversus totali... |
OMIM:249270 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Gastrointestinal stroma tumor, Mediastinal ly... |
ORPHA:139411 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Diabetes mellitus, Lower limb muscle weakness, Insulin resistance, Hyper... |
OMIM:615980 |
Hyperparathyroidism, Transient Neonatal |
|
Frontal bossing, Hyperparathyroidism, Polyhydramnios, Brachycephaly, Ovarian cyst, Splenic cyst, ... |
OMIM:618188 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Obesity, Decreased fertility, Mitral valve prolapse, Hypogonadism, Abnormal testis morphology |
ORPHA:2233 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... |
OMIM:616959 |
Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Hypospadias, Craniosynostosis, Dolichocephaly, Abnormal muscle fiber morphology,... |
OMIM:175700 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Ataxia, Microcephaly, Dilated cardiomyopathy, Hypogonadism, Arrhythmia, Lethargy, H... |
ORPHA:254913 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Hypert... |
OMIM:618815 |
Joubert Syndrome With Renal Defect |
|
Abnormality of the hypothalamus-pituitary axis, Ataxia, Biparietal narrowing, Gait disturbance |
ORPHA:220497 |
Bardet-Biedl Syndrome 22 |
|
Microcephaly, Large for gestational age, Obesity, Hypogonadism, Macrocephaly, Polyphagia |
OMIM:617119 |
Immunodeficiency 54 |
|
Hepatomegaly, Failure to thrive, Lymphoproliferative disorder, Microcephaly, Splenomegaly, Adreno... |
OMIM:609981 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Ascites, Weight loss, Lymphadenopathy |
ORPHA:26790 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Biparietal narrowing, Microcephaly |
ORPHA:261190 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... |
OMIM:615710 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal... |
ORPHA:791 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Weight loss |
ORPHA:64741 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Premature ovarian insufficiency, Abnormality of the thyroid gland, Ragged-red ... |
OMIM:609286 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Pedal edema, Weight loss, Neoplasm, Ascites |
ORPHA:168811 |
Non-Distal Deletion 10Q |
|
Ataxia, Biparietal narrowing, Gait disturbance |
ORPHA:1581 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:95513 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Cryptorchidism, Elevated circulating ... |
OMIM:618183 |
Cimdag Syndrome |
|
Hepatomegaly, Ataxia, Microcephaly, Microvesicular hepatic steatosis, Hypogonadism, Primary micro... |
OMIM:619273 |
Johanson-Blizzard Syndrome |
|
Hepatic fibrosis, Atrial septal defect, Micropenis, Hypothyroidism, Hepatomegaly, Hypospadias, El... |
OMIM:243800 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... |
ORPHA:131 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Failure to th... |
ORPHA:2394 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Frontal bo... |
OMIM:615438 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos... |
ORPHA:66661 |
Lynch Syndrome 4 |
|
Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... |
ORPHA:100080 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Sensorineural hearing impairment, Macrothrombocytopenia, Menorrhagia, Impaired platelet aggregati... |
OMIM:124900 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Relative macrocephaly, Distal lower limb amyotrophy, Hyperactivity, Hypospadias, Aggressive behav... |
OMIM:300354 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Moynahan Syndrome |
|
Hypogonadism, Cachexia, Microcephaly |
ORPHA:2574 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Cardiac arres... |
OMIM:212138 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom... |
ORPHA:652 |
Linear Nevus Sebaceus Syndrome |
|
Frontal bossing, Cavernous hemangioma, Prominent occiput, Plagiocephaly, Adenoma sebaceum, Bipari... |
ORPHA:2612 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Peritoneal effusion, Edema, Disseminated cutaneous warts, Pericardial effusion, Abno... |
ORPHA:90362 |
Fumarase Deficiency |
|
Relative macrocephaly, Frontal bossing, Failure to thrive, Polyhydramnios, Microcephaly, Intrahep... |
OMIM:606812 |
Wilson Disease |
|
Acute hepatic failure, Edema, Pedal edema, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, H... |
OMIM:277900 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Hydrops fetalis, Renal cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Dolichoc... |
OMIM:614091 |
Neurofibromatosis-Noonan Syndrome |
|
Cryptorchidism, Abnormality of the lymphatic system, Pulmonic stenosis, Dysphagia, Hypertrophic c... |
ORPHA:638 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
Immunodeficiency 87 And Autoimmunity |
|
Atrial septal defect, Atrioventricular canal defect, Hepatic steatosis, Decreased proportion of C... |
OMIM:619573 |
Joubert Syndrome With Oculorenal Defect |
|
Abnormality of the hypothalamus-pituitary axis, Ataxia, Biparietal narrowing |
ORPHA:2318 |
Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Posteriorly rotated ears, Increased mean platelet volume, Cryptorchidism, Sensor... |
OMIM:616737 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect, Joint stiffness, Splenomegaly, Reduced bone mineral density, Leukopeni... |
OMIM:620210 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Polyphagia, Weight loss, Brady... |
ORPHA:399 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, N... |
OMIM:617049 |
1Q44 Microdeletion Syndrome |
|
Frontal bossing, Abnormal cardiac septum morphology, Biparietal narrowing, Microcephaly |
ORPHA:238769 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failu... |
ORPHA:746 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Cryptorchidism, Obesity, Renal cyst, Hypogonadism |
OMIM:615982 |
Alg8-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Ataxia, Small for gestational age, Edema, Hydro... |
ORPHA:79325 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis |
OMIM:261650 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymph... |
ORPHA:275761 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... |
ORPHA:1215 |
Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Jaundice, Xerostomia, Cirrhosis, Dysphagia, Ascites, Mu... |
ORPHA:779 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ... |
ORPHA:69665 |
Digeorge Syndrome |
|
Parathyroid agenesis, Ventricular septal defect, Decreased circulating parathyroid hormone level,... |
OMIM:188400 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, ... |
ORPHA:545 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy, Ataxia |
OMIM:208750 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Atrial fibrillat... |
OMIM:613327 |
Neutral Lipid Storage Myopathy |
|
Very long chain fatty acid accumulation, Hand muscle weakness, Fatty replacement of skeletal musc... |
ORPHA:98908 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Diencephalic Syndrome |
|
Cachexia, Long penis, Hyperhidrosis, Neoplasm of the nervous system, Decreased body weight, Abnor... |
ORPHA:1672 |
Familial Adenomatous Polyposis 4 |
|
Astrocytoma, Renal cyst, Ovarian cyst, Uterine leiomyoma, Thyroid adenoma |
OMIM:617100 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy, Ascites, Edema, Microcephaly |
OMIM:611719 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy... |
ORPHA:97289 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Frontal bossing, Multicystic kidney dysplasia, Cryptorchidism, Pic... |
OMIM:614527 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Poikilo... |
OMIM:615234 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Craniosynostosis, Microcephaly, Obesity, Biparietal narrowing, Macroce... |
ORPHA:251038 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Testicular neoplasm, Shortened QT interva... |
ORPHA:99880 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... |
OMIM:600649 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Ragged-red muscle fibers, Gene... |
OMIM:613561 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Bicuspid aortic valve, External genital hypoplasia, Dilated cardiomyopathy, Ob... |
OMIM:615981 |
Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
Acquired Partial Lipodystrophy |
|
Myopathy, Insulin resistance, Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
Rabson-Mendenhall Syndrome |
|
Atrial septal defect, Enlarged ovaries, Impaired glucose tolerance, Ventricular septal defect, Pr... |
ORPHA:769 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Prolonged QT interval, Increased circulatin... |
ORPHA:71212 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Edema, Pulmonary embolism, Iron deficiency anemia, Budd-Chiari syndrome, Thrombocyt... |
OMIM:226300 |
Noonan Syndrome 8 |
|
Relative macrocephaly, Atrial septal defect, Ventricular septal defect, Polyhydramnios, Large for... |
OMIM:615355 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Ataxia, Megaloblastic anemia, Cardio... |
OMIM:222300 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Lethargy, Hashimoto thyroiditi... |
ORPHA:199299 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Hypospadias, Abnormal pul... |
ORPHA:500 |
Medulloblastoma |
|
Medulloblastoma |
OMIM:155255 |
Trisomy 20P |
|
Frontal bossing, Hypospadias, Camptodactyly of finger, Cryptorchidism, Brachycephaly, Plagiocepha... |
ORPHA:261318 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Dehydration, Ambiguous genital... |
ORPHA:90791 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease... |
ORPHA:2234 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Small scrotum, Hypoglycemia, Failure to thrive, Port... |
OMIM:613658 |
Rhabdoid Tumor |
|
Renal neoplasm, Thrombocytopenia, Lymphadenopathy, Neoplasm of the central nervous system, Neopla... |
ORPHA:69077 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Diabetes mellitus, Ataxia, Abnormal mesentery morphology, Cardiomyop... |
ORPHA:3463 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Hyperlipidemia, Pedal edema, Hydrocele ... |
ORPHA:567546 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Agg... |
ORPHA:84081 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Abnormal mitochondrial shap... |
ORPHA:17 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Abnormality of the lymphatic system, Hydrocele testis, Multiple lipom... |
ORPHA:276280 |
Primary Ciliary Dyskinesia |
|
Male infertility, Atrial situs ambiguous, Abnormal atrial arrangement, Female infertility, Asplen... |
ORPHA:244 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... |
OMIM:276700 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Microcephaly, Right ventricular dilat... |
ORPHA:369840 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... |
ORPHA:100082 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachyc... |
OMIM:614921 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotensio... |
ORPHA:99828 |
Pleural Mesothelioma |
|
Hepatomegaly, Abnormal cardiovascular system physiology, Weight loss, Lymphadenopathy, Dysphagia,... |
ORPHA:50251 |
Schaaf-Yang Syndrome |
|
Frontal bossing, Failure to thrive in infancy, Impulsivity, Inability to walk, Cryptorchidism, Fl... |
OMIM:615547 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Skeletal muscle atrophy, Ataxia, Limb joint contracture, Microcephaly, Splenomegaly... |
OMIM:301072 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Turricephaly, Microcephaly, Biparietal narrowing, Hypohidrosis |
ORPHA:1005 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Failure to thrive, Abnormal pulmonary valve morphology, Portal hyper... |
ORPHA:974 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Menorrhagia, Anemia |
OMIM:616176 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Acholic stools, Cholestatic liver... |
ORPHA:65682 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Cavernous hemangioma, Hydrocele testis, Mitral regurgitati... |
OMIM:620244 |
Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypotension, Dela... |
ORPHA:2965 |
Gm1 Gangliosidosis |
|
Frontal bossing, Ventricular septal defect, Ataxia, Camptodactyly of finger, Splenomegaly, Conges... |
ORPHA:354 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Ascites, Micropenis, Failure to thrive |
OMIM:602361 |
Yellow Fever |
|
Shock, Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentr... |
ORPHA:99829 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Low-set ears, Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Oxycephaly, Hepatic fibrosis, Polysplenia, A... |
OMIM:200995 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Edema, Polyhydramnios, Cryptorchidism, Pulmonic stenosis, Macro... |
OMIM:613224 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Abnormal calvaria morphology, Biparietal narrowing |
ORPHA:1323 |
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 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Papillary cystadenom... |
ORPHA:892 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Cystinosis |
|
Portal hypertension, Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Dehydration,... |
ORPHA:213 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Relative macrocephaly, Decreased muscle mass, Hypospadias... |
ORPHA:813 |
Focal Segmental Glomerulosclerosis 1 |
|
Edema, Hyperlipidemia, Hypertension, Pleural effusion, Ascites, Anemia |
OMIM:603278 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulin... |
ORPHA:263455 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Pericarditis, Myocardial infarction, Orchitis, Splenomegaly, Peritonitis, ... |
ORPHA:342 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Edema, Anorexia, Dehydration, Leukopenia, Recurrent hypoglycemia, Lethargy, Hepatomegaly, Ataxia,... |
ORPHA:20 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increased body weigh... |
ORPHA:398069 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Ab... |
ORPHA:52430 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:98793 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Unsteady gait, Truncal ataxia, Limb ataxia, Dysphagia, Distal amyotrophy, Hypogonadism, Type II d... |
ORPHA:412057 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Hypogonadotropic hypogonadism, Eosinophilia, Micro... |
ORPHA:353298 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Microcephaly, Pancreatic st... |
OMIM:617052 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Frontal bossing, Very long chain fatty acid accumula... |
OMIM:261515 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:98754 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... |
ORPHA:603 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Small for gestational age, Anemia of inadequate production, An... |
OMIM:224120 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat... |
ORPHA:79140 |
Al Amyloidosis |
|
Howell-Jolly bodies, Xerostomia, Abnormality of the liver, Abnormal salivary gland morphology, He... |
ORPHA:85443 |
Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Hypohidrosis, Acute leukemia, Hypogonadism, Attention deficit hyperactivity disor... |
ORPHA:281090 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:177904 |
Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Obesi... |
ORPHA:110 |
Childhood-Onset Nemaline Myopathy |
|
Waddling gait, Scapular winging, Polyhydramnios, Flexion contracture, Increased muscle lipid cont... |
ORPHA:171439 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Image Syndrome |
|
Frontal bossing, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hypogonadism |
ORPHA:85173 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Tricuspid regurgitation, Biparietal narrowing |
ORPHA:228396 |
Diabetes And Deafness, Maternally Inherited |
|
Sensorineural hearing impairment, Cardiomyopathy, Pigmentary retinopathy, Type II diabetes mellit... |
OMIM:520000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Macrocytic anemia, Ataxia, Splenomegaly, Cardiomyopathy, Focal T2 hyperintense thalamic lesion, A... |
OMIM:619046 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:177901 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
Isotretinoin Syndrome |
|
Biparietal narrowing |
ORPHA:2305 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Splenomegaly, Hypogonadism, Lethargy, Decreased serum testosterone concentr... |
OMIM:201100 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Biparietal narrowing, Microcephaly |
ORPHA:2518 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Elevated circulating thyroid-stimulating hormone concentration, Abnormal drin... |
ORPHA:209905 |
Congenital Macroglossia |
|
Macroglossia, Neurofibroma, Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, H... |
ORPHA:3157 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Microcephaly, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increase... |
OMIM:617228 |
Distal Deletion 12Q |
|
Frontal bossing, Hyperactivity, Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive i... |
ORPHA:96149 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia, Macrocephaly |
ORPHA:2576 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Edema, Microcephaly, Cryptorchidism, Congestive heart failure, Locali... |
ORPHA:2505 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Small scrotum, Decreased response to growth hormone stimulation test, Exte... |
OMIM:176270 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Hypoplasia of penis, Polyhydramnios, Congenital diaphragmatic hernia, Neopla... |
ORPHA:373 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Hypercholesterolemia, Hepatic steatosis, Decreased liver function |
OMIM:616829 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
Ravine Syndrome |
|
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight |
ORPHA:99852 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
ORPHA:280679 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
Neuroendocrine Tumor Of Stomach |
|
Abnormal pulmonary valve cusp morphology, Anorexia, Iron deficiency anemia, Atypical pulmonary ca... |
ORPHA:100075 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Hypertrophic cardiomyopathy |
OMIM:620270 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy, Failure to thrive, Agitation, Compulsive behaviors |
OMIM:619651 |
Isolated Congenital Hypoglossia/Aglossia |
|
Hamartoma, Weight loss |
ORPHA:141152 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Failure to thrive, Premature ovarian insufficiency, Cachexia, Micr... |
OMIM:610965 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Hepatic steatosis, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:614582 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Galactosemia I |
|
Hepatomegaly, Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... |
OMIM:230400 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Abnormal reproductive system morphology, Abnormality of the spleen, S... |
ORPHA:1666 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Pancytopenia, Hypospadias, Ataxia,... |
OMIM:305000 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Lymphedema, Anorexia, Splenomegaly, Hamartomatous polyposis, Neoplasm, Ma... |
ORPHA:2930 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... |
ORPHA:79644 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... |
ORPHA:444463 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Microcephaly, Cardiomyopathy, Decreased liver function, Failure to thrive, Thromboc... |
ORPHA:67048 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, ... |
ORPHA:3226 |
Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... |
OMIM:609200 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Rhabdomyolysis, Cardiomyopa... |
ORPHA:228305 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Renal cyst, Choreoathetosis, Cardiomyopathy, Bo... |
ORPHA:445038 |
17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Diabetes mellitus, Cryptorchidism, O... |
ORPHA:261265 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Hepatomegaly, Frontal bossing, Splenomegaly, Scaphocephaly, Macrocephaly, Self-injurious behavior... |
OMIM:615637 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... |
OMIM:210250 |
Aceruloplasminemia |
|
Refractory anemia, Torticollis, Diabetes mellitus, Ataxia, Akinesia, Congestive heart failure, Ab... |
ORPHA:48818 |
Gray Platelet Syndrome |
|
Epistaxis, Myelodysplasia, Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Erdheim-Chester Disease |
|
Polydipsia, Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Ataxia, Retroperitone... |
ORPHA:35687 |
Triploidy |
|
Hepatomegaly, Hypoplasia of penis, Hypospadias, Polyhydramnios, Cryptorchidism, Abnormality of th... |
ORPHA:3376 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Decreased muscle mass, Flat occiput, External genital hypoplasia, Dolichocephaly, Self-mutilation... |
ORPHA:3041 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Diabetes mellitus, Hypospadias, Cachexia, Microcephaly, Decreased testic... |
ORPHA:3242 |
Central Diabetes Insipidus |
|
Anorexia, Dehydration, Weight loss, Lethargy, Polydipsia, Failure to thrive, Diabetes insipidus |
ORPHA:178029 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... |
ORPHA:329249 |
Congenital Myopathy 22B, Severe Fetal |
|
Waddling gait, Hepatomegaly, Frontal bossing, Scapular winging, Hip contracture, Nonimmune hydrop... |
OMIM:620369 |
Kaposi Sarcoma |
|
Generalized lymphadenopathy, Lymphoproliferative disorder, Lymphedema, Abnormality of the spleen,... |
ORPHA:33276 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Skeletal muscle atrophy, Microc... |
ORPHA:508 |
Farber Disease |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive, Intrahepatic cholestas... |
ORPHA:333 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Hema... |
ORPHA:101330 |
Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Hyperglycemia |
ORPHA:2056 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
ORPHA:95613 |
Satoyoshi Syndrome |
|
Microcephaly, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, ... |
ORPHA:3130 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia |
ORPHA:2582 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Edema, Leukocytosis, Steatorrhea, Weight loss, Hematochezia, Dysphagia, Ascites, An... |
ORPHA:2070 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Glucose intolerance, Hepatic fibrosis, ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Glucose intolerance, Hepatic fibrosis, ... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Glucose intolerance, Hepatic fibrosis, ... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Lymphedema, Glucose intolerance, Hepatic fibrosis, ... |
ORPHA:881 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Turricephaly, Palpebral edema, Cryptorchidism, Jau... |
OMIM:214110 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Failure to thrive |
ORPHA:172 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Renal neoplasm, Lymphedema, Retinal hamartoma, Renal angiomyolipoma,... |
ORPHA:538 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Relative macrocephaly, Failure to thrive, Impulsivity, Microcephaly, Overweight, Cryptorchidism, ... |
ORPHA:500055 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Small for gestational age, Ataxia, Microcephaly, Left ventricular noncompaction, Hypertrophic car... |
OMIM:615917 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, Macrovesicular hepatic st... |
OMIM:608836 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility, Centrally nucleated skeletal muscle fibers, ... |
OMIM:619518 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Very long chain fatty acid accumulation, Hypospadias,... |
ORPHA:912 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Microcephaly, Cryptorchi... |
OMIM:227646 |
Fraser-Like Syndrome |
|
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger |
OMIM:229230 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Ataxia, Edema, Microcephaly, Cryptorchidism, Hypogonadism, Ad... |
OMIM:617575 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy, Hypogonadism |
OMIM:254000 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Polyhydramnios, Microvesicular he... |
OMIM:617156 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentrati... |
ORPHA:417 |
Anaplastic Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Lymphadenopathy, Neoplasm of the lung, Malignant neoplasm of the... |
ORPHA:142 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Frontal bossing, Skeletal muscle atrophy, Secundum atrial septal defect, Elevated circulating ala... |
OMIM:614300 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Small for gestational age, Splenomegaly, M... |
OMIM:606003 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Failure to thrive, Flexion contracture, Anisocytosis, Camptodactyly |
OMIM:604273 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Elevated circulating parathyroid hormone level, Pheoch... |
ORPHA:97685 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac dea... |
ORPHA:99901 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Thickened calvaria, Frontal bossing, Relative macrocephaly, Ventricular septal defect, Left ventr... |
OMIM:300967 |
Joubert Syndrome 37 |
|
Hepatomegaly, Frontal bossing, Cryptorchidism, Obesity, Micropenis, Decreased testicular size |
OMIM:619185 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ... |
OMIM:157640 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Female infertility, Situs inversus totalis, Hypothyroidism, Goiter |
OMIM:617577 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes insipidus, Microcephaly, Splenomegaly, Inab... |
OMIM:225750 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Flat occiput, Ataxia, Ankle flexion contracture, Spl... |
OMIM:608799 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Polyphag... |
ORPHA:33543 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Hydrops fetalis |
OMIM:619462 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Dextrocardia, Situs inversus totalis, Obesity, Renal cyst, Hypogonadism, Micropenis |
OMIM:615994 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Polyhydramnios, Hydrocele testis, Hypertrophic cardiomyopathy, Hypocholesterolemia,... |
OMIM:618810 |
Mcdonough Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia |
ORPHA:2471 |
Cystinosis, Nephropathic |
|
Male infertility, Hepatomegaly, Frontal bossing, Diabetes mellitus, Failure to thrive in infancy,... |
OMIM:219800 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edem... |
ORPHA:904 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Hypogly... |
ORPHA:26791 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Microcephaly, Splenomegal... |
OMIM:259720 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a... |
OMIM:617780 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration... |
OMIM:261680 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... |
ORPHA:98912 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Cardiac arrest, Microcephaly, Bradycardia, Hypertrophic cardiomyopathy, Failure to ... |
OMIM:618235 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Impotence, Arrhythmia |
ORPHA:85447 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Cirrhosis... |
OMIM:215600 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Microcephaly, Primary amenorrhea, Delayed thelarche, Delayed puberty, Hyperins... |
OMIM:616033 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Monosomy 13Q34 |
|
Metrorrhagia, Epistaxis, Microcephaly, Insulin resistance, Obesity, Hematochezia, Pulmonic stenos... |
ORPHA:96168 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:613752 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Congestive heart failure, Limb-girdle muscle weaknes... |
OMIM:608099 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, Neoplasm, Abnormality of the uterus, Atrial septal defect, ... |
ORPHA:84 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Ataxia, Impulsivity, Microcephaly, Precocious puberty, Brachycephaly, Tip-toe gait, Agitation, At... |
OMIM:619950 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Osteope... |
ORPHA:3240 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia |
ORPHA:100024 |
Syndromic Diarrhea |
|
Inguinal hernia, Small for gestational age, Bicuspid aortic valve, Increased mean platelet volume... |
ORPHA:84064 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Facial capillary hemangioma, Renal cyst, Hypocholesterolemia, Atria... |
OMIM:270400 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Abnormal atrioventricular conducti... |
ORPHA:3208 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Absence of pubertal de... |
OMIM:610628 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Dysphagia, Supraventricular tachy... |
OMIM:255100 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Irregular menstruation, Obesity, Truncal obesity, Hyperglycemia, Polyphagia |
OMIM:615986 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Polyhydramnios, Renal cyst, Cardiomyopathy, Myopathy, Decreased liver function, Let... |
OMIM:614922 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Iron deficiency anemia, Abnormality ... |
ORPHA:97214 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Diabetes mellitus, Progressive cerebellar ataxia, Progressive gait ataxia, Cardiomy... |
ORPHA:1177 |
Full Schwannomatosis |
|
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... |
ORPHA:93921 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Borjeson-Forssman-Lehmann Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Microcephaly, Cryptorchidism, Trunca... |
ORPHA:127 |
Aredyld Syndrome |
|
Hepatomegaly, Craniofacial hyperostosis, Cachexia, Splenomegaly, Refractory anemia with ringed si... |
ORPHA:1133 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Dilated cardiomyopathy, Flexion contracture, Ragged-red muscle fibers, Left ventricular n... |
OMIM:252011 |
Noonan Syndrome 5 |
|
Polyhydramnios, Large for gestational age, Dolichocephaly, Cryptorchidism, Macrocephaly, Arrhythm... |
OMIM:611553 |
Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function, Congenital portosystemic venous shunt, Persistent pa... |
OMIM:601466 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Thrombocytopenia, Cerebellar hemorrhage, Dehydration, C... |
OMIM:606054 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Microcephaly, S... |
ORPHA:2585 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Hypogonadotropic hypogonadism, Ataxia, Supernumerary nipple, Decreased fertility, Brachycephaly, ... |
ORPHA:1173 |
Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Neoplasm, Menorrhagia |
ORPHA:168816 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Müllerian Aplasia And Hyperandrogenism |
|
Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm... |
ORPHA:247768 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy, Geogra... |
OMIM:619260 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... |
ORPHA:824 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Lymphedema, Hamartomatous polyposis, Int... |
ORPHA:109 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Ventricular septal defect, Small for ge... |
OMIM:301056 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis, Primary hypothyroidism |
ORPHA:300536 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Sagittal craniosynostosis, Pancreatic cysts... |
OMIM:610199 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Hypoglycemic seizures, Hyper... |
OMIM:231530 |
Idiopathic Achalasia |
|
Dysphagia, Weight loss |
ORPHA:930 |
2P21 Microdeletion Syndrome |
|
Frontal bossing, Failure to thrive, Hypogonadism, Hypoglycemia |
ORPHA:163693 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Dehydration, Choreoathetosis, Leukopen... |
ORPHA:27 |
Ochoa Syndrome |
|
Cryptorchidism, Polydipsia, Hypertension |
ORPHA:2704 |
Propionic Acidemia |
|
Hepatomegaly, Arrhythmia, Hypoglycemia, Cardiomyopathy |
ORPHA:35 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Frontal bossing, Weight loss, Atrial septal defect, Hypertrophic cardiomyopathy, Fa... |
ORPHA:1842 |
X-Linked Intellectual Disability, Seemanova Type |
|
Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature, Microcephaly, ... |
ORPHA:85323 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Microcephaly, Cardiomyopathy |
OMIM:212080 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... |
OMIM:617093 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Lethargy, Hepatic steatosis, Cerebral ... |
OMIM:201450 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Ataxia, Myelodysplasia, Microcephaly, Cerebral ischemia, Agitation, Lethargy, Failu... |
ORPHA:927 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Rhabdomyolysis, Hematochezia, Choles... |
ORPHA:79095 |
Jacobsen Syndrome |
|
Flat occiput, Hypospadias, Ventricular septal defect, Trigonocephaly, Microcephaly, Cryptorchidis... |
OMIM:147791 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,... |
ORPHA:79301 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis... |
ORPHA:98907 |
Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Orthostatic hypotension, Neoplasm of the thymus, Hypersexuality, Hodgkin lympho... |
ORPHA:217253 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Hypoglycemia, Aggressive behavior, Abnormal mitochondrial morphology, Choreoathetos... |
OMIM:300438 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... |
ORPHA:507 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Ataxia, Mi... |
OMIM:203700 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parathy... |
OMIM:239200 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:30925 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Increased hema... |
ORPHA:284227 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Situs inversus totalis, Brachycephaly, Obesity, Hypogonadism |
OMIM:615985 |
Chronic Hiccup |
|
Abnormal eating behavior, Abnormality of the diaphragm, Dehydration, Weight loss |
ORPHA:396 |
Rothmund-Thomson Syndrome, Type 2 |
|
Frontal bossing, Small for gestational age, Cryptorchidism, Squamous cell carcinoma, Telangiectas... |
OMIM:268400 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Renal cyst, Pedal edema, Ataxia, Abnormal pericardium morphology, Por... |
ORPHA:284 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Polyphagia, Hypertension, Type II diabetes melli... |
ORPHA:71529 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Pericarditis, Myocarditis, Hepatitis, Large vessel vasculitis, A... |
ORPHA:728 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Anorexia, Reticulocytopenia, Hydrops fetalis, Dehydration, Neutropenia, Let... |
OMIM:557000 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Costello Syndrome |
|
Thickened Achilles tendon, Ventricular septal defect, Failure to thrive in infancy, Polyhydramnio... |
ORPHA:3071 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Leukopenia, Neutr... |
OMIM:251000 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Abnormality of the thyroid gland, Jaundice, Hepatit... |
ORPHA:186 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Tenorio Syndrome |
|
Hypoglycemia, Raynaud phenomenon, Macroglossia, Syncope, Gait disturbance, Macrocephaly, Hypoinsu... |
OMIM:616260 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric ly... |
OMIM:209950 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Hypoglycemia, Cardiac arrest, Premature thelarche, Ataxia, Microce... |
OMIM:616878 |
Muscle Filaminopathy |
|
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A... |
ORPHA:171445 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Failure to thrive, Small for gestational age, Rec... |
OMIM:193700 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc... |
ORPHA:54595 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Ventricular hypertrophy, Waddling gait, Elevated circulating aspar... |
OMIM:300280 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Copper accumu... |
OMIM:616828 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Microcephaly, Cholestasis, Hepatosplenomegaly, ... |
ORPHA:541423 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... |
OMIM:618329 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Sudden cardiac... |
ORPHA:537 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Bicuspid aortic valve, Tics, Compulsive behaviors, Micropenis, Hepatic steatosis, ... |
OMIM:619475 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Ataxia, Cryptorchidism, Flexion contracture, Gait disturbance, Difficulty walking, ... |
ORPHA:90322 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Flexion contracture, Cardiomyopathy, Facia... |
ORPHA:171433 |
Noonan Syndrome 2 |
|
Relative macrocephaly, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Cryptorchidism... |
OMIM:605275 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Ataxia, Elevated circulating growth hormone concentration, Pituitary co... |
ORPHA:300385 |
Microsporidiosis |
|
Myositis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathyroid gland,... |
ORPHA:2552 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, Lymphopenia, Biparietal narrowing, Anemia |
ORPHA:935 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis, Polyhydramnios, Macrocephaly, Ambiguous genitalia... |
OMIM:615503 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Microcephaly, Cryptorchidis... |
ORPHA:251066 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Maternal diabetes, Cardiomegaly, Hyperhidrosis, Dextrotransposition of the great a... |
ORPHA:860 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... |
ORPHA:3464 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Aicardi-Goutieres Syndrome 7 |
|
Generalized lymphadenopathy, Edema, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Hemolytic an... |
OMIM:615846 |
48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Pulmonary embolism, Cryptorchidism, Obesity, Brachycephaly, A... |
ORPHA:96263 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle glycogen content, Diabetes mellitus, Increased mitochon... |
ORPHA:263297 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... |
OMIM:608600 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ataxia, Microcephaly, Splenomegal... |
OMIM:613489 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Microcephaly, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia |
OMIM:618165 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Polyhydramnios, Microcephaly, Congestive heart failure, Thrombocytopenia, Flexion contrac... |
OMIM:616271 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti... |
ORPHA:486 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocyt... |
OMIM:614470 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty |
ORPHA:141333 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Soft tissue sarcoma, Adrenocortical carcinoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis... |
OMIM:607330 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atria... |
OMIM:619534 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Azoosp... |
ORPHA:300298 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Flexion contracture, Hypogonadism, Microcephaly |
OMIM:251240 |
Gitelman Syndrome |
|
Maternal diabetes, Hyperhidrosis, Glucose intolerance, Iron deficiency anemia, Prominent U wave, ... |
ORPHA:358 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
Bloom Syndrome |
|
Neoplasm, Neoplasm of the breast, Male infertility, Decreased proportion of CD4-positive T cells,... |
ORPHA:125 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Muscle fiber atrophy, Facial palsy, Weakness of facial musculature, Ragg... |
OMIM:258450 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Menorrhagia, Imp... |
ORPHA:274 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Cryptorchidism, Elbow flexion contracture,... |
OMIM:618440 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy, Hypothyroidism |
OMIM:619647 |
Noonan Syndrome 12 |
|
Lymphopenia, Ventricular septal defect, Tetralogy of Fallot, Thrombocytopenia |
OMIM:618624 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundic... |
ORPHA:1414 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
Aspartylglucosaminuria |
|
Hepatomegaly, Microcephaly, Vacuolated lymphocytes, Brachycephaly, Macroglossia, Mitral regurgita... |
OMIM:208400 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Ataxia, Edema, Anorexia, Leukocytosis, Dehydration, Weight loss, Hype... |
ORPHA:134 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Microcephaly, Splenomegaly, Lymphoma, Recurrent tonsillitis, Lymphadenopathy, B lym... |
ORPHA:397596 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Renal cortical cysts, Macrocephaly, Polycystic kidney dyspl... |
OMIM:231680 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Posterolateral diaphragmatic hernia, Adrenal hypoplasia, Morgagni diaphragmatic... |
OMIM:613177 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... |
ORPHA:369929 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal lymphedema, B-cell lymphoma, Edema, Right ventricular failure, Lymphedema, Lymphoma, C... |
ORPHA:90363 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Ataxia, Dilated car... |
OMIM:619167 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Congestive heart f... |
OMIM:611126 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... |
ORPHA:103918 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ataxia, Skeletal muscle steatosis, Gait disturbance, Decreased liver function, Glyc... |
ORPHA:436271 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Aggressive behavior, Splenomegaly, J... |
ORPHA:646 |
Alagille Syndrome |
|
Hepatomegaly, Frontal bossing, Ventricular septal defect, Telangiectasia of the skin, Cryptorchid... |
ORPHA:52 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hernia, Biliary atresia, M... |
ORPHA:2255 |
Hennekam Syndrome |
|
Benign neoplasm of the central nervous system, Lymphopenia, Camptodactyly of finger, Craniosynost... |
ORPHA:2136 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Microcephaly, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakn... |
ORPHA:86812 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Microc... |
OMIM:227650 |
Mirage Syndrome |
|
Decreased body weight, Hypergonadotropic hypogonadism, Hypospadias, Hypoglycemia, Myelodysplasia,... |
OMIM:617053 |
Mogs-Cdg |
|
Hepatomegaly, Atrial septal defect, Pulmonary edema, External genital hypoplasia, Edema, Cardiome... |
ORPHA:79330 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:42642 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Microcephaly, Rhabdomyolysis, Ventricular ... |
ORPHA:159 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Recurrent to... |
ORPHA:171876 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Anorexia... |
ORPHA:3287 |
Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Diabetes mellitus, Hypoglycemia, Microcephaly, Secundum atrial septal defect, ... |
OMIM:609069 |
Brucellosis |
|
Liver abscess, Anorexia, Hyperhidrosis, Leukopenia, Abnormality of the liver, Hepatomegaly, Leuko... |
ORPHA:1304 |
Cog5-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Camptodactyly of finger, Microcephaly, Cryptorchidis... |
ORPHA:263487 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Microcephaly, Splenomegaly, Congestive heart failure, Thrombocytopenia, Inability t... |
OMIM:617303 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Ataxia, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Mela... |
ORPHA:1183 |
Meckel Syndrome |
|
Accessory spleen, Multicystic kidney dysplasia, True hermaphroditism, Pancreatic fibrosis, Microc... |
ORPHA:564 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Increased mean platelet volume, Flexion contr... |
ORPHA:487796 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia |
OMIM:222100 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Distal amyotrophy, Steppage gait |
OMIM:610100 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Ataxia, Ragged-red muscle fibers, Dysphagia, Loss o... |
OMIM:607426 |
Melas |
|
Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue,... |
ORPHA:550 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Testicular atrophy, Congenital diaphragmatic hernia |
OMIM:601163 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Fetal ascites, Flexion contracture, Brachy... |
OMIM:619503 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Sudden cardia... |
ORPHA:156 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Hypoglycemia, Microcephaly, Insulin resistance, Truncal... |
ORPHA:73272 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Card... |
OMIM:618278 |
Trichohepatoenteric Syndrome 1 |
|
Small for gestational age, Ventricular septal defect, Increased mean platelet volume, Splenomegal... |
OMIM:222470 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cryptorchidism, Gait ataxia, Delayed puberty, Hypertrophic cardiomyopathy, Lower limb amyotrophy,... |
ORPHA:496790 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Renal cyst, Uterine leiom... |
ORPHA:480536 |
H Syndrome |
|
Histiocytosis, Diabetes mellitus, Hypertriglyceridemia, Microcytic anemia, Abnormal cardiovascula... |
ORPHA:168569 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility, Dextrocardia, Asplenia, Situs inversus totalis |
OMIM:618948 |
Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Pituitary adenoma, Hy... |
OMIM:300942 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Microcephaly, Splenomegaly, Jaundi... |
ORPHA:290 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Ataxia, Myocardial inf... |
ORPHA:117 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Weight ... |
ORPHA:330001 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity |
ORPHA:363741 |
Infantile Refsum Disease |
|
Hepatomegaly, Very long chain fatty acid accumulation, Ataxia, Facial palsy, Cardiomyopathy, Arrh... |
ORPHA:772 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cysts, Splenomegaly, Pericardial effusio... |
ORPHA:464329 |
Ring Chromosome 12 Syndrome |
|
Small for gestational age, Microcephaly, Secundum atrial septal defect, Cryptorchidism, Glandular... |
ORPHA:1439 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Hypot... |
ORPHA:412 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Frontal bossing, Small scrotum, Cryptorchidism, Brachycephaly, Hypogonadism, Coronal craniosynost... |
ORPHA:228390 |
Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Frontal bossing, Skeletal muscle atrophy, Ataxia, Facial palsy, Cach... |
ORPHA:1328 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Leukocytosis, Pedal edema, Weight loss, Pleural effusion, Hypotension,... |
ORPHA:188 |
49,Xxxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Pulmonary embolism, Cryptorchidism, Brachycephaly, Azoospermi... |
ORPHA:96264 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Flat occiput, Hypospadias, Ventricular septal defe... |
OMIM:214100 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Myositis, Edema, Pericardial effusion, Raynaud phenomenon, Lymphadenopathy, Leukopen... |
ORPHA:93552 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis, Limb hypertonia |
OMIM:615918 |
Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy, Abnormality of the liver |
ORPHA:391457 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Lymphoma, Thyroiditis, Steatorrhea, Wei... |
OMIM:212750 |
Senior-Loken Syndrome 9 |
|
Hypogonadism, Hepatic fibrosis, Cholestasis, Obesity |
OMIM:616629 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
Trisomy 8P |
|
Multiple joint contractures, Abnormal atrioventricular connection, Microcephaly, Cryptorchidism, ... |
ORPHA:264450 |
Thymoma |
|
Myositis, Aplastic anemia, Neoplasm of head and neck, Pure red cell aplasia, Imbalanced hemoglobi... |
ORPHA:99867 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regurgitation, Normocyti... |
OMIM:300972 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Hepatomegaly, Normocytic anemia, Pancytopenia, Myelodysplasia, Anemia of ... |
ORPHA:75564 |
Mucopolysaccharidosis Type 7 |
|
Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Ascites |
ORPHA:584 |
Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Peroneal muscle atrophy, Quadriceps muscle weakness, ... |
ORPHA:609 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Obesity, Abnormal t... |
ORPHA:163681 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leuko... |
ORPHA:90065 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Microcephaly, Leukocytosis, Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Micr... |
OMIM:619321 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Fetal ascites, Lymphedema, Hydrocele testis |
OMIM:620014 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... |
ORPHA:93476 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Myelodysplasia, Portal hyp... |
ORPHA:729 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Cachexia, Microcepha... |
ORPHA:217346 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, S... |
OMIM:131100 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
Mccune-Albright Syndrome |
|
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... |
OMIM:174800 |
Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Cryptorchidism, Neurofibroma, Macrocephaly, Plexiform neurofibroma... |
OMIM:601321 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Foot joint contracture, Scarring, Cryptorchidism, Macrotia, ... |
ORPHA:90321 |
Aicardi Syndrome |
|
Microcephaly, Precocious puberty, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosa... |
OMIM:304050 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Hepatic fibrosis, Decrease... |
ORPHA:79319 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Hyperlipidemia, Hepatic calcification, Cardiomyopathy, P... |
ORPHA:228308 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Macrocytic anemia, Diabetes mellitus, Ataxia, Scapular winging, Myopathy... |
ORPHA:98673 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... |
OMIM:611556 |
C Syndrome |
|
Hepatomegaly, Ventricular septal defect, Microcephaly, Cryptorchidism, Renal cortical cysts, Trig... |
OMIM:211750 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon |
ORPHA:447877 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Microcephaly, Limb-girdle muscle weakness, Flexion contr... |
OMIM:609308 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Hemolytic anemia, Aplastic an... |
ORPHA:398124 |
Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Microcephaly, Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mell... |
ORPHA:401768 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Frontal bossing, Decreased heart rate variabili... |
OMIM:619005 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Mitral valve calcification, Cyanosis, Right ventricular failure, Increased pulmonar... |
ORPHA:60025 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated hepatic transaminase, Hepatomegaly, External genital hypoplasia, Polyhydramnios, Contrac... |
ORPHA:329178 |
Transketolase Deficiency |
|
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Abnormal repetitive mannerisms, Se... |
ORPHA:488618 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Gait imbalance, Dy... |
ORPHA:329336 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu... |
ORPHA:79277 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellit... |
OMIM:618858 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Distal lower limb amyotrophy, Small for gestational age, Decreased response to gro... |
ORPHA:506358 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Ha... |
OMIM:263520 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Bradykine... |
ORPHA:254886 |
Hec Syndrome |
|
Polyhydramnios, Vaginal hydrocele, Cardiomyopathy, Endocardial fibroelastosis, Arrhythmia |
ORPHA:2119 |
Deeah Syndrome |
|
Hepatomegaly, Decreased hemoglobin concentration, Decreased response to growth hormone stimulatio... |
OMIM:619004 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy, Microcephaly |
OMIM:616647 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Thrombocytopenia, Lymphoma, Lymphadenopathy, Weight los... |
ORPHA:47612 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular tachycardia, Atrioventricular block, Atrial septal defect, Lethargy, Patent foramen o... |
ORPHA:26793 |
Juvenile Huntington Disease |
|
Broad-based gait, Hyperactivity, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia... |
ORPHA:248111 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Frontal bossing, Bicuspid aortic valve, Polyhydramnios, Lymphed... |
OMIM:613563 |
Ruijs-Aalfs Syndrome |
|
Frontal bossing, Skeletal muscle atrophy, Hepatocellular carcinoma, Elbow flexion contracture, Hy... |
OMIM:616200 |
Crandall Syndrome |
|
Hypoplasia of penis, Abnormal testis morphology, Hypogonadism |
ORPHA:202 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... |
ORPHA:75234 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cryptorchidism, Skull asymmetry, Secondary microcephaly, Hypertrophic ... |
OMIM:612938 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Frontal bossing, Failure to thrive in infancy, Cardi... |
OMIM:619064 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Failure to thrive, Cyanosis, Hypospadias, Hypoglycemia, Ataxia, Microcephaly, Skele... |
OMIM:252010 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Myopathy, Ataxia |
OMIM:275630 |
Emanuel Syndrome |
|
Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Congenital diaphragma... |
ORPHA:96170 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Polyhydramnios, Trigonocephaly, Microcephaly, Fl... |
OMIM:605039 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... |
OMIM:232220 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Myopathy, Failure to thrive, Hepatic steatosis |
ORPHA:977 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Telangiectasia of the skin, Capillary hemangioma, Displacement of t... |
ORPHA:1556 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Attention deficit hyperactivity diso... |
ORPHA:369873 |
Christianson Syndrome |
|
Decreased muscle mass, Cachexia, Microcephaly, Dysphagia, Gait ataxia, Inappropriate laughter, Tr... |
ORPHA:85278 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturi... |
OMIM:137920 |
Alexander Disease Type I |
|
Ataxia, Cachexia, Progressive macrocephaly, Abnormal thalamic MRI signal intensity, Dysphagia, Fa... |
ORPHA:363717 |
Nephroblastoma |
|
Lymphadenopathy, Neoplasm of the lung, Neoplasm of the liver, Hypertension, Neoplasm, Weight loss... |
ORPHA:654 |
Abetalipoproteinemia |
|
Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hepatic fibrosis, Hypocholesterolemia, Hypot... |
ORPHA:14 |
Sneddon Syndrome |
|
Atrophic scars, Lymphopenia, Bicuspid aortic valve, Facial palsy |
OMIM:182410 |
Roifman Syndrome |
|
Hepatomegaly, Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect, Eosinophi... |
OMIM:616651 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cyst, Atrial septal defect, Lethargy, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricus... |
OMIM:614866 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Fatal liver failure in infancy, Lethargy |
ORPHA:254857 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Microvesicular hepatic steatosis, Aortic valve atresia, Dysmetria, Increas... |
OMIM:220111 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Ataxia, Cardiomegaly, Microcephaly, Cryptorchidism, In... |
OMIM:618143 |
Cyclic Vomiting Syndrome |
|
Ataxia, Anorexia, Microcephaly, Cardiomyopathy, Attention deficit hyperactivity disorder, Lethargy |
OMIM:500007 |
Distal Myotilinopathy |
|
Multiple joint contractures, Loss of ability to walk in first decade, Cardiomyopathy, Distal amyo... |
ORPHA:98911 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Polyhydramnios, Large for gestational age, Cryptorchidism, Pulmonic st... |
OMIM:610733 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Anore... |
ORPHA:781 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl... |
OMIM:261750 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Hip contracture, Polyhydramnios, Large for gestational age, Microcephaly, Microvesi... |
OMIM:300868 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
Rotor Syndrome |
|
Jaundice, Storage in hepatocytes, Intermittent jaundice |
ORPHA:3111 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Relative macrocephaly, Hepatomegaly, Pancytopenia, Frontal bossing, Failure to thrive in infancy,... |
OMIM:613385 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... |
ORPHA:523 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:615486 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Steppage gai... |
ORPHA:399086 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Inability to walk, Athetosis, Gait disturbance, Secondary microcephaly, Loss of amb... |
OMIM:618241 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy, Vaginal hernia, Microcephaly |
ORPHA:3173 |
Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Myelodysplasia, Lymphedema, Pancreatic cysts, Abnorma... |
ORPHA:1318 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Imm... |
OMIM:614874 |
Camurati-Engelmann Disease, Type 2 |
|
Waddling gait, Skeletal muscle atrophy, Hip contracture, Mitral valve prolapse, Knee flexion cont... |
OMIM:606631 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:601794 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... |
OMIM:300855 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Elevated hemoglobin A... |
OMIM:616113 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Frontal bossing, Facial palsy, Splenomegaly, Anemia, Macrocephaly, Failure to thriv... |
OMIM:615085 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Mic... |
OMIM:613404 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:300842 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, ... |
OMIM:606176 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Pulmonary embolism, Jaundice, Hyperl... |
ORPHA:444490 |
Maternally-Inherited Diabetes And Deafness |
|
Ataxia, Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertroph... |
ORPHA:225 |
Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentr... |
OMIM:277700 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypospadias, Ataxia, Small for gestationa... |
OMIM:615471 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Situs inversus totalis, Abnormal axonemal organizatio... |
OMIM:613807 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Retinal atrophy, Abnormal pinna morphology,... |
OMIM:216400 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, C... |
OMIM:612541 |
Aspartylglucosaminuria |
|
Hepatomegaly, Splenomegaly, Macroglossia, Macroorchidism, Thickened calvaria |
ORPHA:93 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Ataxia, Hypovolemia, Dehydration... |
ORPHA:99885 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Ataxia, Cardiomegaly, Hyperhidros... |
OMIM:268800 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Edema, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Glucose intolerance, Ab... |
ORPHA:254892 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Huntington Disease-Like 2 |
|
Gait disturbance, Weight loss |
ORPHA:98934 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Myocardial infarction, Mitral valve prolapse, Failure to thrive, Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Abnormal liver ... |
ORPHA:90003 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Edema, Renal cyst, Steatorrhea, Hepatic fibrosis, Cirrhosis, Hyp... |
OMIM:602579 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Cardiomyopath... |
OMIM:212112 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Prostatiti... |
ORPHA:449432 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Ventricular septal defect, Craniosynostosis, Microc... |
ORPHA:2745 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Hyperparathyroidism, Splenomegaly, Thickened calvaria, Anemia |
OMIM:618107 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Ataxia, Truncal ataxia, Hypertrophic cardiomyopathy, Decreased liver function, Incr... |
OMIM:220110 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Microcephaly, Inability to walk, Flexion contracture, Abnormal left ventricular fun... |
OMIM:613155 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Premature ovarian insufficiency, Aplastic anemia, Small for gestational age, Myelodys... |
ORPHA:221008 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Failu... |
ORPHA:1018 |
Sotos Syndrome |
|
Astrocytoma, Neonatal hypoglycemia, Flexion contracture, Pedal edema, Neoplasm, Increased head ci... |
ORPHA:821 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Obesity, Hypogonadism, Flexion cont... |
ORPHA:3409 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat... |
ORPHA:2088 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Abnormalit... |
ORPHA:1775 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Diabetes mellitus, Ataxia, Microcephaly, Cryptorchidism, Insulin resistance, Di... |
OMIM:616541 |
Pancreatic Agenesis 1 |
|
Neonatal insulin-dependent diabetes mellitus, Oligohydramnios, Pancreatic aplasia, Pancreatic hyp... |
OMIM:260370 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol galls... |
ORPHA:209902 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Frontal bossing, Streak ovary, Hypospadias, Myeloid leukemia, Nephroblas... |
ORPHA:798 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Camptodactyly of finger, Mitral valve prolapse, Mitral regurgitation, Camptodactyly... |
ORPHA:2848 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Broad-based gait, Cac... |
ORPHA:2072 |
Neuroblastoma, Susceptibility To, 1 |
|
Abdominal mass, Ataxia, Ganglioneuroblastoma, Weight loss, Hypertension, Neuroblastoma, Failure t... |
OMIM:256700 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Multicystic kidney dysplasia, Facial palsy, Supernumerary nipple, Polyhydra... |
ORPHA:261349 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Hypoglycemia, Cardiomegaly, Microcephaly, Choreoathetosis, Dysphagia, Los... |
ORPHA:391428 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Abnormal mitochondrial morphology, Hypertrophic cardiomyopathy, F... |
OMIM:618378 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Martsolf Syndrome 1 |
|
Hypogonadotropic hypogonadism, Cardiac arrest, Microcephaly, Cryptorchidism, Congestive heart fai... |
OMIM:212720 |
African Trypanosomiasis |
|
Choreoathetosis, Hepatomegaly, Abnormal EKG, Abnormality of the endocrine system, Hepatosplenomeg... |
ORPHA:3385 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Ce... |
ORPHA:514 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly, Obesity, Chole... |
OMIM:615630 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, EMG: myopathic ... |
ORPHA:71 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Hypoglycemia, Fasting hypoglycemia, Hep... |
ORPHA:348 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Frontal bossing, Ventricular septal defect, Polyhydramnios, Sag... |
OMIM:609942 |
Dubowitz Syndrome |
|
Hyperactivity, Hypospadias, Aplastic anemia, Microcephaly, Cryptorchidism, Lymphoma, Acute lympho... |
OMIM:223370 |
Somatomammotropinoma |
|
Frontal bossing, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circula... |
ORPHA:314769 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Failure to thrive, Microcephaly, Steatorrhea, Neutropenia, Hyper... |
OMIM:617941 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Lymphoma, Thyro... |
ORPHA:39041 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Pancytopenia, Anorexia, Phimosis, Flexion contracture, Xerostomia,... |
ORPHA:99921 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... |
OMIM:613011 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Lymphedema, Splenomegaly, Jaundice, Hyperlipidemia, ... |
OMIM:214900 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Hashimoto thyroiditis, Anorexia, Large vessel vasculitis, Renovascular hyperte... |
ORPHA:49041 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Tricuspid stenosis, Edema, Right ventricular failure, Arterial occ... |
ORPHA:100078 |
Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Failure to th... |
ORPHA:5 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Polyhydramnios, Weight loss |
OMIM:620045 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Dehydration, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypo... |
ORPHA:33355 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Ventricular septal defect, Polyhydramnios,... |
OMIM:229850 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Relative macrocephaly, Hyperactivity, Ventricular septal defect, Polyhydram... |
OMIM:607721 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Frontal bossing, Hypospadias, Ventricular septal defect, Microcephaly, Cryptorchidism, Renal cyst... |
OMIM:616975 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
X-Linked Agammaglobulinemia |
|
Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic system, Hepatitis, Wei... |
ORPHA:47 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Cyanosis, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Congesti... |
ORPHA:2326 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Monosomy 22 |
|
Aplasia of the thymus, Microcephaly, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegal... |
ORPHA:96123 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Vasculi... |
OMIM:308240 |
Secondary Short Bowel Syndrome |
|
Cholestasis, Weight loss, Central hypothyroidism, Dehydration, Primary hypothyroidism, Steatorrhe... |
ORPHA:95427 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Microcephaly, Biliary hyperplasia, Cry... |
ORPHA:83617 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... |
OMIM:608747 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Cyanosis, Transient ischemic attack, Adrenal calcification, Failure to t... |
ORPHA:51608 |
Indomethacin Embryofetopathy |
|
Multicystic kidney dysplasia, Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial ... |
ORPHA:1909 |
American Trypanosomiasis |
|
Hepatomegaly, Edema, Periorbital edema, Splenomegaly, Myocarditis, Congestive heart failure, Lymp... |
ORPHA:3386 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Cerebral hemorrhage, Episodic hyperhidrosis, Congestive heart fai... |
ORPHA:94080 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Ataxia, Microcephaly, Ragged-red mus... |
OMIM:530000 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Angina pectoris, Splenomegaly, Hyperlipidemia, Vacuolated lympho... |
ORPHA:565612 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... |
OMIM:160980 |
Acromegaly |
|
Frontal bossing, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circula... |
ORPHA:963 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals... |
OMIM:619424 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Small for gestational age, Abnormal pinna morphology, Abnorm... |
OMIM:133540 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Cachexia, Ragged-red muscle fibers, Weight loss, Slender build |
OMIM:613662 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Ataxia, Microcephaly, Inability to wa... |
OMIM:615356 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E... |
OMIM:300696 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Decreased female libido, Hypoglycemia, O... |
ORPHA:95409 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Flat occiput, Hypospadias, Ataxia, Small for gestational age, Cryptorchidism, Hypertension, Arrhy... |
OMIM:614052 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Telangiectasia of the skin, Lymphedema, Telangiectasia, Generalized amyotrophy, Hyp... |
ORPHA:79279 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Cellulitis, Neutropenia, Hepatosplenomegaly, Leukop... |
OMIM:618986 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating growth hormone concentration, Ede... |
ORPHA:2796 |
Pancreatic Agenesis 2 |
|
Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypopla... |
OMIM:615935 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hepatomegaly, Flat occiput, Inability to walk, Flexion contracture, Gait ataxia, Plagiocephaly, A... |
OMIM:619383 |
8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Microcephaly, Cryptorchidism, Hypogonadism |
ORPHA:178303 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal musc... |
OMIM:608358 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Ataxia, Hypoglycemia, Severe temper tantrums, Aggressive behavior, Dysme... |
OMIM:617710 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat... |
OMIM:617713 |
Majeed Syndrome |
|
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Edema, Splenomegaly, Leukocytosis, Flexion... |
ORPHA:77297 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Myelodysplasia, Splenomegaly, ... |
ORPHA:71493 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonad... |
OMIM:615849 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hepatomegaly, Cardiac arrest, Myofiber disarray, Increased variability in muscle fiber diameter, ... |
OMIM:604377 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Microcephaly |
OMIM:615440 |
Jacobsen Syndrome |
|
Frontal bossing, Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Hypopla... |
ORPHA:2308 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis,... |
ORPHA:292 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Anorexia, Orchitis, Raynaud phenomenon, Weight loss, Cardio... |
ORPHA:48435 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Normocytic anemia, Ataxia, Epistaxis, Abnormality of n... |
ORPHA:33226 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,... |
ORPHA:3455 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... |
OMIM:614096 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Microcephaly, Limb-girdle muscle weakness, Cardiomyopath... |
OMIM:615352 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Nonimmune hydro... |
OMIM:619313 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... |
OMIM:211600 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Myopathy, Gait ... |
ORPHA:157973 |
Noonan Syndrome 10 |
|
Relative macrocephaly, Atrial septal defect, Ventricular septal defect, Cryptorchidism, Increased... |
OMIM:616564 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Ataxia, Dilated cardiomyopathy, Hyperhidrosis, Lethargy, Hypertrophic cardiomyopathy |
OMIM:614299 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... |
OMIM:255160 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Prom... |
ORPHA:556955 |
Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
Fraser Syndrome 3 |
|
Hypoplasia of penis, Small scrotum, Nonimmune hydrops fetalis, Ascites, Oligohydramnios |
OMIM:617667 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Positiv... |
ORPHA:29072 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Ataxia, Microvesicular hepatic steatosi... |
OMIM:124000 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Failure to thrive, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Skeletal muscle atrophy, Ataxia, Left ventricular hypertrophy, Lethargy, Hypertrophic cardiomyopa... |
OMIM:618228 |
Congenital Myopathy 24 |
|
Waddling gait, Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopath... |
OMIM:617336 |
Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... |
OMIM:601346 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Calvarial hyp... |
OMIM:612714 |
Sézary Syndrome |
|
Hepatomegaly, Skeletal muscle atrophy, Cutaneous T-cell lymphoma, Edema, Splenomegaly, Lymphoma, ... |
ORPHA:3162 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
Sialuria |
|
Hepatomegaly, Frontal bossing, Splenomegaly, Macroglossia, Hypoplastic nipples, Attention deficit... |
OMIM:269921 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypertriglyceridemia, Abnormal heart ... |
ORPHA:77293 |
Nephronophthisis 16 |
|
Situs inversus totalis, Cholestasis, Periportal fibrosis, Aortic valve stenosis, Polycystic kidne... |
OMIM:615382 |
Noonan Syndrome 7 |
|
Large for gestational age, Lentigo maligna melanoma, Dysphagia, Hyperhidrosis, Macrocephaly, Impa... |
OMIM:613706 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Failure to thrive, Hypoglycemia, Lethargy |
OMIM:210200 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Short sperm flagella, Male infertility, Situs inversus totalis |
OMIM:620197 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Facial hypotonia, Limb jo... |
ORPHA:404454 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Congestive he... |
OMIM:615895 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Dysphagia, Asymmetric septal hypertrophy, Dolichocepha... |
OMIM:252930 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363958 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Hydrops fetalis, Thyroid carcinoma, Lymphocytosis, Increased B cell cou... |
ORPHA:3261 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-posi... |
OMIM:619510 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Enchondroma, Myositis, Diabetes mellitus, Multiple joint contractu... |
ORPHA:51 |
Sengers Syndrome |
|
Premature ovarian insufficiency, Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arteri... |
OMIM:212350 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Thrombocytopenia, L... |
ORPHA:520 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Cryptorchidism, Elevated circulating thyroid-stimulating hormone conce... |
OMIM:101800 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Microcephaly, Hydrops fetalis, Cardiomyopathy, Abnormality of the ... |
ORPHA:88618 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Hyperglycemia, Pancreatic... |
OMIM:600001 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Gait disturbance |
ORPHA:34587 |
Isolated Complex I Deficiency |
|
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Ataxia, Microcephaly, Lethargy, Hypertrophic cardi... |
ORPHA:2609 |
East Syndrome |
|
Salt craving, Ataxia, Inability to walk, Hyperaldosteronism, Increased circulating renin level, D... |
ORPHA:199343 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Brachycephaly, Atrial se... |
OMIM:265380 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Frontal bossing, Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Micro... |
OMIM:616801 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... |
OMIM:613239 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia, Obesity |
OMIM:618406 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Microcephaly, Elevated circulating alanine aminotr... |
OMIM:618500 |
Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Microcephaly, Cryptorchidism, Squamous cell carcinoma, Anemia |
OMIM:613951 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Spinal neurofibroma, Sarcoma, Ataxia, ... |
ORPHA:636 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ventricular septal defect, Elevat... |
OMIM:619525 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Anorexia, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Atax... |
ORPHA:50918 |
Leopard Syndrome 1 |
|
Bundle branch block, Scapular winging, Hypospadias, Delayed menarche, Cryptorchidism, Complete at... |
OMIM:151100 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Cardiomyopathy, Let... |
OMIM:616483 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Brachycephaly, Gait ataxia, Hepatomegaly, Elevated circulating asparta... |
OMIM:280000 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Diabetes mellitus, Neutrophilia, Leukocytosis, Hypoxemia, Leukopenia, Pleural empyema, Add... |
ORPHA:36238 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... |
ORPHA:3143 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Microcephaly, Splenomegaly, Mic... |
ORPHA:309854 |
Adrenoleukodystrophy |
|
Primary adrenal insufficiency, Limb ataxia, Impotence, Hypogonadism, Attention deficit hyperactiv... |
OMIM:300100 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Microcephaly |
OMIM:618229 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Primary testicular failure, Atrial fib... |
OMIM:115250 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... |
OMIM:615415 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Dyspareunia, Elevated hepatic transaminase, Gastrointestinal hemorrhage, M... |
ORPHA:36426 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Ataxia, Portal hypertension, Raynaud phenomenon,... |
OMIM:615688 |
Thymic Carcinoma |
|
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss, Hyperhi... |
ORPHA:99868 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Episodic hype... |
ORPHA:276621 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Weight loss, Failure to thrive, Cachexia, Gait ataxia |
OMIM:612075 |
Xeroderma Pigmentosum, Complementation Group B |
|
Ataxia, Microcephaly, Basal cell carcinoma, Neoplasm, Hypogonadism, Squamous cell carcinoma of th... |
OMIM:610651 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracrani... |
ORPHA:3260 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Hyperhidrosis, Displacement of... |
ORPHA:1329 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammatory arteriopa... |
ORPHA:31825 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Abnormality of circulating cortisol level, Left ventricular hypertrophy, Polydipsia... |
ORPHA:320 |
Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:261 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes |
OMIM:610582 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98853 |
Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Gait disturb... |
ORPHA:352540 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Posteriorly rotated ears, Eosinophili... |
OMIM:617237 |
Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Cachexia, Dysmetria, Gait ataxia, Dysphagia |
OMIM:618093 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy... |
OMIM:603903 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive, Secondary microcephaly, Microcephaly |
OMIM:616672 |
Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy, Secondary microcephaly, Decreased liver function, Prolonged neonatal jaundice |
OMIM:618437 |
Nelson Syndrome |
|
Increased urinary cortisol level, Lower limb muscle weakness, Testicular neoplasm, Pituitary cort... |
ORPHA:199244 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Frontal bossing, Decreased serum insulin-like growth factor 1, Elbow contracture, Platybasia, Kne... |
OMIM:618162 |
Huntington Disease-Like 1 |
|
Restlessness, Dysmetria, Weight loss, Bradykinesia, Gait ataxia, Gait disturbance |
ORPHA:157941 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Microcephal... |
ORPHA:2990 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Limb ataxia, Gait ataxia, Cardiomy... |
OMIM:619259 |
Hypercalcemia, Infantile, 1 |
|
Decreased circulating parathyroid hormone level, Dehydration, Weight loss, Lethargy, Failure to t... |
OMIM:143880 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy, Failure to ... |
ORPHA:91130 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Joint contracture, Failure to thrive, Optic atrophy |
OMIM:616881 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... |
ORPHA:79456 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Alg3-Cdg |
|
Microcephaly, Abnormality of the endocrine system, Cardiomyopathy, Macroglossia, Decreased liver ... |
ORPHA:79321 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ataxia, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Multiple lipo... |
ORPHA:1349 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypoplastic left heart, Bradycardia, Dysphagia, Hypertrophic cardiomyo... |
OMIM:616276 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Hypospadias, Microcephaly, Cryptorchidism, Cardiomyopathy, Abnormal cardiac septum morphology |
OMIM:217980 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Failur... |
OMIM:616198 |
Immunodeficiency 22 |
|
Pericarditis, Failure to thrive, Thrombocytopenia, Capillary leak, Decreased proportion of CD4-po... |
OMIM:615758 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Gastrointestinal stro... |
OMIM:115310 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy, Increased circulating procalcitonin concentration |
ORPHA:363549 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder, Brachycephaly,... |
ORPHA:349 |
Pgm3-Cdg |
|
Hemolytic anemia, Failure to thrive, Osteomyelitis, Abnormal proportion of CD8-positive T cells, ... |
ORPHA:443811 |
Hurler Syndrome |
|
Aortic regurgitation, Hepatomegaly, Frontal bossing, Splenomegaly, Cranial hyperostosis, Enlarged... |
OMIM:607014 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Giant Cell Arteritis |
|
Pericarditis, Ataxia, Epistaxis, Sudden cardiac death, Anorexia, Mediastinal lymphadenopathy, Vas... |
ORPHA:397 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Asymmetric septal hypertrophy, Dense calvaria |
OMIM:252900 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased n... |
ORPHA:909 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a... |
ORPHA:210122 |
Penoscrotal Transposition |
|
Abnormal external genitalia, Hypospadias, Penoscrotal transposition, Prominent occiput, Cardiomyo... |
ORPHA:2842 |
Familial Cold Urticaria |
|
Polydipsia, Dehydration, Hyperhidrosis |
ORPHA:47045 |
Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Choreoathetosis, Self-injurious behavior, Dysphagia, Testicular atrophy |
OMIM:300322 |
Trichothiodystrophy |
|
Multiple joint contractures, Ventricular septal defect, Craniosynostosis, Microcephaly, Cryptorch... |
ORPHA:33364 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Carcinoma, Corneal neovascularization, Squamous cell carcinoma |
OMIM:615225 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Multiple small medullary renal... |
OMIM:263200 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Im... |
OMIM:248370 |
Progressive Non-Fluent Aphasia |
|
Restlessness, Brain neoplasm |
ORPHA:100070 |
Alg1-Cdg |
|
Cardiomyopathy, Decreased liver function, Progressive microcephaly, Abnormal heart morphology |
ORPHA:79327 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Cardiac arrest, Eosinophilia, Myocarditis, ... |
ORPHA:139402 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Nodular regenerative hyperplasia of liver, Raynau... |
ORPHA:247691 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Vulval varicose vein, Weight los... |
ORPHA:71273 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Isaacs Syndrome |
|
Calf muscle hypertrophy, Weight loss, Hyperhidrosis |
ORPHA:84142 |
Mucopolysaccharidosis, Type Iiid |
|
Hepatomegaly, Frontal bossing, Hyperactivity, Restlessness, Aggressive behavior, Splenomegaly, Ac... |
OMIM:252940 |
Noonan Syndrome |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal pulmonary valve morphology, Lymphedema, Cry... |
ORPHA:648 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric... |
ORPHA:75249 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... |
ORPHA:331206 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Ataxia... |
ORPHA:822 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete... |
OMIM:241080 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Small for gestational age, Bilateral cryptorchidism, Thrombocytopenia, ... |
OMIM:242900 |
Teratoma, Pineal |
|
Abnormal abdomen morphology, Teratoma, Polydipsia |
OMIM:273120 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Situs inversus totalis, Bili... |
OMIM:267010 |
Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Myocardial necrosis, Pancyto... |
OMIM:260400 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a... |
OMIM:612954 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98863 |
Legionnaires Disease |
|
Pericarditis, Ataxia, Anorexia, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lym... |
ORPHA:549 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Elevated hepatic transaminase, Diabetes mellitus, Small scrotum, External genital hypoplasia, Cry... |
OMIM:614231 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Dehydration, Portal fibrosis, Hepatic... |
OMIM:619377 |
Zimmermann-Laband Syndrome 1 |
|
Hepatomegaly, Dolichocephaly, Splenomegaly, Long penis, Gingival fibromatosis, Cardiomyopathy, Ma... |
OMIM:135500 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Craniofacial hyperostosis, Telangiectasia of the skin, Ataxia, Micro... |
ORPHA:910 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, B-cell lymphoma, Myocardial infarctio... |
ORPHA:91139 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... |
ORPHA:576 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Xerostomia, Hepat... |
ORPHA:227990 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia, Arthritis, Panniculi... |
OMIM:617591 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Cachexia, Microcephaly, Congenital diaphragma... |
ORPHA:3380 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Prominent occiput, H... |
OMIM:606056 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... |
ORPHA:183 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility, Situs inversus totalis |
OMIM:300991 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Rhabdomyolysis, Weight loss, Palpitations, Goiter |
OMIM:188580 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hyperlipidemia, Rhabdomyolysis, Hepatic calcification, Cardiomyopathy, Myopathy, Po... |
ORPHA:157 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Corneal ... |
OMIM:617388 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Scapular winging, Polyhydramnios, Cryptorchidism, Hyperhidrosis, Mitral val... |
OMIM:619745 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatitis, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatic... |
OMIM:167800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Aggressive behavior, Precocious puberty, Obesity, Hepatosplenomegaly,... |
OMIM:301066 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... |
ORPHA:227982 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... |
OMIM:601419 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... |
ORPHA:231580 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Ataxia, Fetal ascites, Bone-marrow foam cells, Sple... |
OMIM:257220 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B ly... |
ORPHA:508542 |
Arima Syndrome |
|
Hepatomegaly, Ataxia, Hypertension, Renal corticomedullary cysts, Hepatic fibrosis, Polycystic ki... |
OMIM:243910 |
Alg9-Cdg |
|
Hydrops fetalis, Brachycephaly, Right ventricular dilatation, Abnormal left ventricular outflow t... |
ORPHA:79328 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hepatic hemangioma, Dysphagia... |
ORPHA:73230 |
Cushing Disease |
|
Diabetes mellitus, Impaired glucose tolerance, Dorsocervical fat pad, Optic nerve compression, Le... |
ORPHA:96253 |
Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Pancreatic cysts, Renal cyst, Mitral valve prolapse, Hypertension, Pitu... |
ORPHA:730 |
Huntington Disease-Like 2 |
|
Bradykinesia, Weight loss |
OMIM:606438 |
Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Microcephaly, Flexion contracture, Telangiectasia, Squamous cell carci... |
OMIM:601675 |
Chops Syndrome |
|
Ventricular septal defect, Microcephaly, Splenomegaly, Cryptorchidism, Obesity, Anomalous pulmona... |
OMIM:616368 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy, Secondary microcephaly |
OMIM:618236 |
Juvenile Polyposis Syndrome |
|
Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, Multiple lipomas, Hemangiobl... |
ORPHA:2929 |
Faundes-Banka Syndrome |
|
Frontal bossing, Fetal ascites, Premature thelarche, Cryptorchidism, Dysphagia, Plagiocephaly, De... |
OMIM:619376 |
Pyomyositis |
|
Myositis, Sudden cardiac death, Leukocytosis, Weight loss, Testicular teratoma |
ORPHA:764 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Nonimmune hydrops fetalis, Cardiomyopathy, De... |
OMIM:618839 |
Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas, Microcephaly |
ORPHA:1305 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Frontal bossing, Cachexia, Abnormal heart morphol... |
ORPHA:79076 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Menometrorrhagia, Epistaxis, Anorexia, Weight loss, Cardiomyopathy, ... |
ORPHA:79430 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Frontal bossing, Abnormal heart valve morphology, Splenomegaly, Congestive heart fa... |
OMIM:230500 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... |
OMIM:618052 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Cardiomegaly, Limb ataxia, Cardiomyopathy, Impotence, Truncal ataxia, Orthostatic hypoten... |
OMIM:105210 |
Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology, Multiple renal cysts, Midface retrusion, Polyhydramnios |
ORPHA:1190 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Hypertrophic cardiomyopathy, Ataxia |
OMIM:618683 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Progressive gait ataxia, Congenital contracture, Hepatomegaly, Ataxia, C... |
ORPHA:191 |
Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morpholog... |
ORPHA:449395 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora... |
OMIM:614868 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart f... |
ORPHA:163596 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen... |
ORPHA:391487 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insu... |
ORPHA:2047 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... |
OMIM:607765 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Amyloidosis, Finnish Type |
|
Abnormal abdomen morphology, Cardiac amyloidosis, Cardiomyopathy |
OMIM:105120 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypertension, Hyperaldosteronism, Polydipsia, Decreased circulating renin level |
OMIM:613677 |
Noonan Syndrome 1 |
|
Male infertility, Juvenile myelomonocytic leukemia, Atrial septal defect, Amegakaryocytic thrombo... |
OMIM:163950 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Thrombocytopenia, Hypertensio... |
OMIM:230800 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms, Situs inversus totalis |
OMIM:612444 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... |
OMIM:612999 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Acute Lung Injury |
|
Shock, Acute pancreatitis, Edema, Diffuse alveolar hemorrhage, Hypoxemia, Addictive alcohol use |
ORPHA:178320 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... |
OMIM:618775 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Polyhydramnios, Splenomegaly, Jaundi... |
OMIM:607625 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Small for gestational age, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Nonimmu... |
OMIM:620167 |
Noonan Syndrome 11 |
|
Atrial septal defect, Relative macrocephaly, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Cachexia, Polyhydramnios,... |
ORPHA:800 |
Campomelia, Cumming Type |
|
Polycystic liver disease, Lymphedema, Pancreatic cysts, Polysplenia, Polycystic kidney dysplasia |
OMIM:211890 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Congenital diaphragmatic hernia, Renal cyst, Atrial septal defect, Hepatoblastoma... |
OMIM:312870 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... |
OMIM:616501 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Renal Glucosuria |
|
Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased susceptibility to fractures, Neutropenia, Lymphopenia, Reduced natural killer cell coun... |
OMIM:619752 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Pmm2-Cdg |
|
Multiple joint contractures, Lymphedema, Elevated circulating thyroid-stimulating hormone concent... |
ORPHA:79318 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Frontal bossing, Hip contracture, Cachexia, Microcephaly, Elbow flexion contracture, Knee flexion... |
ORPHA:371364 |
Joubert Syndrome 32 |
|
Frontal bossing, Ataxia, Large for gestational age, Macrocephaly, Hypertrophic cardiomyopathy |
OMIM:617757 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Polyhydramnios |
ORPHA:1203 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased... |
ORPHA:398063 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Diabetes insipidu... |
ORPHA:900 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Diabetes mellitus, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturban... |
ORPHA:96 |
Vici Syndrome |
|
Atrial septal defect, Lymphopenia, Failure to thrive, Microcephaly, Congestive heart failure, Dil... |
OMIM:242840 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Ataxia, Splenomegaly, Hypohidrosis, Hypogonadism, Arthrogryposis multiplex congenit... |
ORPHA:163746 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Compulsive behaviors, Loss of ambulation, Muscle fiber atrophy, Hepatome... |
ORPHA:2388 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Frontal bossing, Congestive heart failure, Irregular menstruation, Uterine leiomyoma, Macrocephal... |
OMIM:616482 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... |
OMIM:616866 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... |
ORPHA:740 |
Prune1-Related Neurological Syndrome |
|
Plagiocephaly, Inability to walk, Hypertrophic cardiomyopathy, Microcephaly |
ORPHA:544469 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... |
OMIM:243150 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Edema, Weight loss |
ORPHA:33577 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Senior-Loken Syndrome 4 |
|
Polydipsia, Anemia |
OMIM:606996 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Pleu... |
OMIM:249100 |
Haddad Syndrome |
|
Small for gestational age, Polyhydramnios, Neuroblastoma, Failure to thrive, Ganglioneuroma, Olig... |
ORPHA:99803 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Skeletal muscle atroph... |
OMIM:615512 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Epistaxis, Lymphoma, Neuroblast... |
OMIM:601399 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cellulitis, Decreased eosinophil count, Lymphopenia, Tooth ... |
ORPHA:2686 |
Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Ataxia, Rhabdomyolysis, Ventricular tachycardia, Increased c... |
OMIM:263800 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Raynaud phenomenon, Mediastinal lymphadenopathy, Weight loss, Hypoxemia, Pulmonary ... |
ORPHA:79128 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... |
OMIM:302060 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Hypothyroidism, Hepatom... |
ORPHA:797 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Polyhydramnios, Anorexia, Nephrogenic diabetes insipidus, Hypovolemia,... |
ORPHA:223 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension |
OMIM:619003 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Chorioretinal coloboma |
ORPHA:1116 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Friedreich Ataxia |
|
Hand muscle atrophy, Diabetes mellitus, Inability to walk, Dysmetria, Gait ataxia, Limb ataxia, C... |
ORPHA:95 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Diaphragmatic eventration, Ventricular septal defect, Polyhydramnios, Cryptorchidis... |
OMIM:620025 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Inclusion body fibromatosis, Mitral regurgitation, Camptodactyly, Restrictiv... |
ORPHA:88630 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Hypoglycemia, Jaundice,... |
OMIM:229600 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Abnormal pericardium morphology, Congestive heart f... |
ORPHA:67 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Pericardial effusion, Splenome... |
OMIM:181000 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Broad-based gait, Scapular winging, Ataxia, Centrally nucleated skeletal... |
OMIM:607459 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, L... |
OMIM:127550 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Hypoplasia of the thymus, Abnormality of the uterus, Atrial septal defect, Hypoth... |
ORPHA:567 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Microcephaly, Inability to walk, Upper-limb joint cont... |
ORPHA:300605 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Atrial fibrillation, Paroxysmal atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Localized neuroblastoma, Brachycephaly, Hypoplastic nipples, Microcephaly |
OMIM:156610 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Flexion contracture... |
OMIM:253220 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Microvesicul... |
OMIM:605814 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hip contracture, Ataxia, Inability to walk, Knee flexion contracture, Gait imbalance, Primary mic... |
ORPHA:488642 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Microcephaly, As... |
OMIM:164280 |
Refsum Disease |
|
Skeletal muscle atrophy, Ataxia, Heart block, Splenomegaly, Cardiomyopathy |
ORPHA:773 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Polyhydramnios, Cachexia, Microcephaly, Flexion contracture, Facial diple... |
OMIM:618186 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Red... |
OMIM:266200 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Cor pulmonale, Biliary cirrhosis, Dehydration, Hepatosplenomegaly... |
OMIM:219700 |
Hurler Syndrome |
|
Hepatomegaly, Frontal bossing, Abnormal heart valve morphology, Angina pectoris, Abnormality of t... |
ORPHA:93473 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aplasia/Hypoplasia... |
ORPHA:2306 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Muscular dystrophy, Cardiomyopathy |
OMIM:309930 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Renal cell carcinoma, Uterine leiomyoma,... |
OMIM:150800 |
Cardiofaciocutaneous Syndrome 1 |
|
Relative macrocephaly, Polyhydramnios, Splenomegaly, Tongue thrusting, Cavernous hemangioma, Hype... |
OMIM:115150 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... |
ORPHA:444013 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Anhidrosis, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Myopathy, Neoplasm, Th... |
ORPHA:169090 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Renal cyst, Bile duct ... |
OMIM:208500 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Microcephaly, Secundum atrial septal defect, Aggressive behavior, Scissor gait, Dysmetria, Facial... |
OMIM:619121 |
Eosinophilic Fasciitis |
|
Myositis, Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Muscular edema, Acroc... |
ORPHA:3165 |
Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles te... |
OMIM:310200 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sensorineural hearing impairment, Abnor... |
ORPHA:760 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Aplastic anemia, Small for gestational age, Myelodysplasia, Facial edema, Cryptorchid... |
ORPHA:221016 |
Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Abscess, Eosinophilia, Sensorineural hearing impairment, Neu... |
OMIM:615816 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Cardiomegaly, Microcytic anemia, Elevated circulating thyroid-stimulatin... |
OMIM:256040 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... |
ORPHA:906 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Nonimmune hydrops fetalis, Decreased liver fu... |
OMIM:618835 |
Icf Syndrome |
|
Abnormality of neutrophils, Low-set ears, Umbilical hernia, Lymphopenia, Anemia |
ORPHA:2268 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Hypertriglyceridemia, F... |
ORPHA:247598 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Schwannoma, Jaw claudication, Weight loss, Neoplasm, Syncope, Bradycardia |
ORPHA:221098 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Hepatosplenomegaly, Failure to thrive secondary to recurrent infections, Decreased ... |
ORPHA:169160 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Weight loss, Tip-toe gait, Gait disturbance, Attention deficit hyperactivity d... |
ORPHA:216866 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... |
OMIM:235555 |
Ataxia-Telangiectasia |
|
Failure to thrive, Diabetes mellitus, Female hypogonadism, Abnormal spermatogenesis, T lymphocyto... |
OMIM:208900 |
Mucopolysaccharidosis Type 2 |
|
Abnormal tricuspid valve morphology, Abnormal repetitive mannerisms, Oppositional defiant disorde... |
ORPHA:580 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph... |
ORPHA:370959 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard... |
ORPHA:679 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
Castleman Disease |
|
Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,... |
ORPHA:160 |
Scorpion Envenomation |
|
Bundle branch block, Edema, Hyperhidrosis, Prominent U wave, Hyperglycemia, Priapism, Ataxia, Ele... |
ORPHA:466677 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo... |
ORPHA:1572 |
Trisomy 10P |
|
Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
Rett Syndrome |
|
Skeletal muscle atrophy, Cachexia, Gait apraxia, Bruxism, Gait ataxia, Secondary microcephaly, Tr... |
OMIM:312750 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... |
ORPHA:480520 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Cardiomegaly, Abnormal occipital bone morphology, Hydrops fetalis, Atrial septal ... |
ORPHA:3472 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Adrenal ... |
OMIM:249000 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Polyhydramnios, Hydrops fetalis, Renal cyst, Atrial septal defect, Patent foramen ov... |
OMIM:613610 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Microcephaly, Flexion contracture, Cardiomyopathy, Myopathy, Nemaline bodies |
OMIM:616549 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... |
OMIM:607361 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Agan... |
OMIM:250250 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,... |
OMIM:619127 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... |
OMIM:613470 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... |
OMIM:616005 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Failure to thrive, Diabetes insipidus, Hypertonic dehydration |
OMIM:304800 |
Myhre Syndrome |
|
Abnormal penis morphology, Craniofacial hyperostosis, Hypospadias, External genital hypoplasia, P... |
ORPHA:2588 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, B-cell lymphoma, Anorexia, Follicular hyperplasia, Splenom... |
OMIM:619381 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Polydipsia, Failure to thrive, Hypertonic dehydration |
OMIM:125800 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Type I diabetes mellitus, Flexion contracture, Cachexia, Weight loss |
ORPHA:1979 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Frontal bossing, Ataxia, Cholangitis, Edema, Microcephaly, Pancreatic cysts, Congen... |
OMIM:266920 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Abnormal cardiac septum morphology, Cac... |
ORPHA:93941 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Dehydr... |
ORPHA:230 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Myositis, Orchitis, Splenomegaly, Peritonitis, Vasculitis, Leukocytosis, Periorbita... |
ORPHA:32960 |
Norrie Disease |
|
Diabetes mellitus, Cachexia, Microcephaly, Cryptorchidism, Self-injurious behavior, Erectile dysf... |
ORPHA:649 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Palpebral edema, Diastasis recti, Craniosynostosis, Cardiomeg... |
OMIM:252500 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Degcags Syndrome |
|
Polyhydramnios, Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, Atrial septal defe... |
OMIM:619488 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Failure to thrive, Tricuspid regurgitation, Hypospadias, Congenital di... |
ORPHA:2556 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial enlargement, Cavernous hemangio... |
OMIM:616028 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... |
ORPHA:424 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Joint stiffness, Leukopenia, Thrombocytosis, Lymphopenia, Anemia |
OMIM:615934 |
Bardet-Biedl Syndrome 12 |
|
Abdominal mass, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hypogonadism, Vaginal atresia |
OMIM:615989 |
Nephronophthisis 11 |
|
Polydipsia, Renal corticomedullary cysts, Hepatic fibrosis, Anemia |
OMIM:613550 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Hyperlipidemia,... |
OMIM:232200 |
Cowden-Like syndrome |
|
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma |
OMIM:612359 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Erectile dysfunction |
ORPHA:206448 |
Congenital Central Hypoventilation Syndrome |
|
Neoplasm of the central nervous system, Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma |
ORPHA:661 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, C... |
ORPHA:90033 |
Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hypercholes... |
ORPHA:470 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction |
OMIM:606842 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Anorexia, Weight loss, Lethargy, Thrombocytopenia |
ORPHA:79242 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Neonatal hypoglycemia, Aggressive behavior, Dysmetria, Cardiomyopathy, Athetosis, General... |
ORPHA:572798 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss |
ORPHA:99978 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Perry Syndrome |
|
Akinesia, Weight loss, Bradykinesia, Inappropriate behavior, Disinhibition, Short stepped shuffli... |
OMIM:168605 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Cyanosis, Anorexia, Leukocytosis, Weight loss, Hypoxemia |
ORPHA:1302 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Abdominal situs inversus, Dextrocardia, Situs inversus totalis |
OMIM:619607 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormally low T cell rece... |
ORPHA:276 |
Liposarcoma |
|
Weight loss, Sarcoma |
ORPHA:69078 |
Toriello-Carey Syndrome |
|
Microcephaly, Cryptorchidism, Cardiomyopathy, Abnormal cardiac septum morphology, Pulmonic stenos... |
ORPHA:3338 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Ovotes... |
OMIM:309801 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Hypertension, Dysdiadochokinesis, Hyperaldosteronism, Increased circulating... |
OMIM:612780 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Ganglioneuroblastoma, Hyperhidrosis, Neoplasm of the nervous system, Arrhy... |
ORPHA:2151 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia, Telangiectasia of the skin, Myoc... |
ORPHA:221 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Tricuspid regurgitation, Dolichocephaly, Splenomegaly, Flexion contracture, Cardiom... |
OMIM:253200 |
Polyarteritis Nodosa |
|
Pericarditis, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension |
ORPHA:767 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Ataxia, ... |
ORPHA:77261 |
Fusariosis |
|
Brain abscess, Fasciitis, Osteomyelitis, Lung abscess, Abnormal retinal morphology, Abnormality o... |
ORPHA:228119 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy, Frontal bossing, Macrocephaly |
OMIM:600721 |
Pneumocystosis |
|
Abnormal neutrophil count, Weight loss, Hypoxemia, Neoplasm, Pleural effusion |
ORPHA:723 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Hyperthyroidism, Failure to thrive in... |
ORPHA:37042 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Truncal ataxia, Pulm... |
OMIM:619051 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Agra... |
OMIM:301078 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Frontal bossing, Microcephaly, Joint contracture of the 5th finger, Attention deficit hyperactivi... |
OMIM:619934 |
Rat-Bite Fever |
|
Abdominal aseptic abscess, Pericarditis, Myocarditis, Lymphadenitis, Endocarditis, Weight loss, A... |
ORPHA:31205 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Duchenne Muscular Dystrophy |
|
Waddling gait, Skeletal muscle atrophy, Flexion contracture, Cardiomyopathy, Calf muscle hypertrophy |
ORPHA:98896 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Marchiafava-Bignami Disease |
|
Ataxia, Facial palsy, Aggressive behavior, Gait ataxia, Addictive alcohol use, Gait disturbance, ... |
ORPHA:221074 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Arthritis, Lymphopenia |
OMIM:616100 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ... |
ORPHA:365 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Hyperhidrosis, Cardiomyopathy, Paroxysmal ventric... |
ORPHA:34217 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cyanosis, Cardiomegaly, Pericar... |
ORPHA:555874 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Atrial septal defect, Frontal bossing, Ventricular septal defect, External genital ... |
ORPHA:96334 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Sensorineural hearing impairment, Corneal scarring, Pigmentary retinopathy, Neutrope... |
OMIM:618460 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Elevated circulating alanine aminotransferase conce... |
ORPHA:308552 |
Congenital Tufting Enteropathy |
|
Dehydration, Weight loss, Cholestatic liver disease, Steatorrhea, Failure to thrive |
ORPHA:92050 |
Secondary Non-Traumatic Avascular Necrosis |
|
Neoplasm, Addictive alcohol use, Difficulty walking, Hematological neoplasm |
ORPHA:399180 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Failure to thrive, Multiple joint contractures, Hypoglycemia, Ventricula... |
ORPHA:506 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hypertension, Multiple renal cysts,... |
OMIM:613095 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Edema, Por... |
ORPHA:3202 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Cholelithiasis, Jaundice, Intrahepatic cholestasis, Hepatomegaly |
OMIM:605479 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Weight loss, Lymphadenopathy |
ORPHA:411703 |
Nephronophthisis 3 |
|
Polydipsia, Renal corticomedullary cysts, Hepatic fibrosis |
OMIM:604387 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Oligohydramnios |
OMIM:619053 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
Refsum Disease, Classic |
|
Ataxia, Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia |
OMIM:266500 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Bent Bone Dysplasia Syndrome 2 |
|
Relative macrocephaly, Hepatomegaly, Decreased calvarial ossification, Shawl scrotum, Atrial sept... |
OMIM:620076 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Ataxia, Autophagic vacuoles, Hypercapnia, Facial palsy, Dilated c... |
OMIM:164310 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Cryptorchidism, Thrombocytopenia, A... |
OMIM:620005 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Absent outer dynein arms, Male infertility, Situs inversus totalis |
OMIM:244400 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Agel Amyloidosis |
|
Ataxia, Facial palsy, Edema, Xerostomia, Cardiomyopathy, Blepharochalasis, Abnormal spleen morpho... |
ORPHA:85448 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoimmune thrombocytopeni... |
OMIM:613179 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Eosinophilia, Shoulder muscle hypoplasia,... |
OMIM:274000 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Facial hypotonia, Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dysphagia, Ag... |
ORPHA:2131 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Abnormal... |
ORPHA:79102 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Craniosynostosis, Precocious puberty, Obesity, Renal cy... |
ORPHA:369837 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Weight loss, Paraganglioma, Dysphagia |
ORPHA:97286 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Aase-Smith Syndrome I |
|
Flexion contracture, Ventricular septal defect, Congenital neuroblastoma |
OMIM:147800 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Anorexia, Xerostomia, Hamartomatous polyposis, Hematochezia, Anemia |
OMIM:175500 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:95626 |
Atelis Syndrome 2 |
|
Frontal bossing, Microcephaly, Thrombocytopenia, Elevated circulating thyroid-stimulating hormone... |
OMIM:620185 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hyperlip... |
OMIM:232240 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Frontal bossing, Congenital muscular torticollis, Abn... |
ORPHA:2538 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms, Situs inversus totalis |
OMIM:614935 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Telangiectasia of the skin, Aplastic anemia, Myelodysplasia, Small for gestational ag... |
ORPHA:2909 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Microcephaly |
ORPHA:1933 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Cryptorchidism, Abnormal heart morphology, Low-set ears, Aor... |
ORPHA:401973 |
Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Multiple renal cysts, Papilloma, Thyroid adenoma, Adenocarcinoma ... |
ORPHA:220460 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... |
OMIM:609452 |
Short Syndrome |
|
Insulin resistance, Diabetes mellitus, Midface retrusion, Weight loss |
ORPHA:3163 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Glucose intolerance, Cirrhosis, Glycosuria, Hypertrophic cardiomyopathy,... |
OMIM:616539 |
Gm1 Gangliosidosis Type 1 |
|
Frontal bossing, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Macroglossia, Thickened cal... |
ORPHA:79255 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... |
ORPHA:93672 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Hyperhidrosis, Pulmonic stenosis, Atrial septal defect, Hypertrophic c... |
OMIM:615279 |
Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Platelet Disorder, Undefined |
|
Neuroblastoma, Thrombocytopenia, Hematological neoplasm |
OMIM:173420 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level |
OMIM:619767 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, T lymphocytopenia, Sclerosis of skull base, Rheumatoid arthritis, Ne... |
OMIM:607944 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation... |
OMIM:616026 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Flexion contracture of finger, Polyhydramnios, Hypercapnia, Hypoplasia of the mu... |
ORPHA:2020 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Frontal bossing, Abnormal erythrocyte morphology, Splenomegaly... |
ORPHA:288 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Ataxia, Pericardial effusion, Gait ataxia, Cardiomyopathy, Loss of ambul... |
OMIM:620089 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrometrocolpos, Atrioventricular canal defect, Hama... |
OMIM:617088 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Broad-based gait, Cardiomyopathy, Myopathy, Calf muscle hypertrophy, Difficulty wa... |
ORPHA:119 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Failure to thrive, Ataxia, Cardiac conduction abnormality, Dilated cardiomyopathy, ... |
ORPHA:255210 |
Nephronophthisis 13 |
|
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:614377 |
Neuroblastoma, Susceptibility To, 2 |
|
Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma |
OMIM:613013 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Brachycephaly, Atrial septal defect, Patent foramen ovale, Self-mutilation... |
OMIM:607872 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, ... |
OMIM:612098 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ataxia, Large for gestational age, Brachycephaly, Renal cyst, Lambdoidal craniosynostosis, Macroc... |
OMIM:615398 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Nocardiosis |
|
Pericarditis, Liver abscess, Abnormal heart valve morphology, Anorexia, Lymphadenitis, Peritoniti... |
ORPHA:31204 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Cachexia, Microcephaly, Athetosis, Self-mutilation |
ORPHA:52503 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Fetal ascites |
OMIM:215045 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Anorexia, Hypochromic microcytic anemia, Weight loss, Peripheral edema |
ORPHA:2494 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Heart mu... |
OMIM:615418 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Flexion contracture, Dysp... |
ORPHA:258 |
Bartter Syndrome, Type 2, Antenatal |
|
Frontal bossing, Small for gestational age, Polyhydramnios, Low-to-normal blood pressure, Dehydra... |
OMIM:241200 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Heart block, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ... |
ORPHA:175 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca... |
ORPHA:439232 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Abnormality of the tonsils, Dolichocephaly, Splenomegaly, Conges... |
ORPHA:579 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Weight loss, Hypoxemia, Pleural effusion |
ORPHA:2902 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Helix Syndrome |
|
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis, Polydipsia |
OMIM:617671 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... |
OMIM:235700 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... |
OMIM:306955 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Anorexia, Lymphedema, Atrioventricular block, D... |
ORPHA:324 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Ataxia, Cardiomyopathy |
ORPHA:3222 |
Ring Chromosome 7 Syndrome |
|
Hypospadias, Microcephaly, Situs inversus totalis, Brachycephaly, Heart murmur, Hydrocele testis,... |
ORPHA:1449 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Glioma, B-cell lymphoma, ... |
ORPHA:647 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Microcephaly, Choreoathetosis, Gait disturbance |
ORPHA:702 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:616307 |
Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Impulsivity, Weight loss, Bradykinesia, Agitation, Shuffling gait, Dysphagia, Orthostat... |
ORPHA:411602 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... |
ORPHA:368 |
Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
Isolated Osteopoikilosis |
|
Abnormality of the endocrine system, Addictive alcohol use, Abnormal heart morphology |
ORPHA:166119 |
Oculoectodermal Syndrome |
|
Hyperactivity, Transient ischemic attack, Supernumerary nipple, Lymphedema, Pineal cyst, Macrocep... |
OMIM:600268 |
Gerstmann-Straussler Disease |
|
Aggressive behavior, Limb ataxia, Weight loss, Bradykinesia, Gait ataxia, Truncal ataxia, Lower l... |
OMIM:137440 |
Yao Syndrome |
|
Ventricular hypertrophy, Pericarditis, Xerostomia, Weight loss |
OMIM:617321 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Right bundle branch ... |
OMIM:617403 |
Oligomeganephronia |
|
Small for gestational age, Congenital diaphragmatic hernia, Secundum atrial septal defect, Dehydr... |
ORPHA:2260 |
Tetrasomy 12P |
|
Frontal bossing, Cachexia, Hypohidrosis |
ORPHA:884 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Weight loss, Anemia, Hypoxemia, Pulmonary venous hypertension, Thrombocytopenia |
ORPHA:90060 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Polyhydramnios, Gait disturbance, Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Gaisböck Syndrome |
|
Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Overweight, Sple... |
ORPHA:90041 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Palpebral edema, Retroperitoneal fibrosis, Facial edema, Enlarged lacrimal glands, Xero... |
ORPHA:79078 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Weight loss |
ORPHA:312 |
Fatal Familial Insomnia |
|
Weight loss, Ataxia, Dysphagia, Hyperhidrosis |
OMIM:600072 |
Renal Hypoplasia |
|
Hypertension, Polydipsia, Small for gestational age, Dehydration |
ORPHA:93101 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bilateral cryptorchidism, Flexion contracture, Plagiocephaly, Myopathy, Gait dis... |
ORPHA:3042 |
Pancreatoblastoma |
|
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardio... |
OMIM:616084 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Decreased heart rate variability, Ganglioneuroblastoma, Hypercapnia, Hyperhidrosis, Hypoxemia, Ne... |
OMIM:209880 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia, Inability to wa... |
ORPHA:505248 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Unsteady gait... |
ORPHA:90324 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Dehydration, Edema, Weight loss |
ORPHA:103910 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Flexion contracture, Hyperinsulinemia, Hyperlipidemia, Gluco... |
OMIM:608612 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Dehydration, Glycosuria, Polydipsia, Failure to thrive |
ORPHA:411629 |
Oromandibular Dystonia |
|
Torticollis, Bruxism, Dysphagia, Weight loss |
ORPHA:93958 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... |
ORPHA:217085 |
Juvenile Nephropathic Cystinosis |
|
Hypovolemia, Dehydration, Glycosuria, Polydipsia, Failure to thrive, Hypothyroidism |
ORPHA:411634 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Cachexia, Microcephaly, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:220295 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... |
ORPHA:217093 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Friedreich Ataxia |
|
Abnormal EKG, Diabetes mellitus, Ataxia, Congestive heart failure, Limb ataxia, Gait ataxia, Hype... |
OMIM:229300 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Decreased proportion o... |
OMIM:619705 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Atrial septal defect, Lower limb dysmetria, Ventricular septal defect, Schwannoma, Ossifying fibr... |
ORPHA:363700 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Lymphoma, Hyphema, Pineoblast... |
ORPHA:790 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Abnormal heart morphology, Palpitations, Hypertrophic cardiomyopathy, Failure to thrive, Mitochon... |
OMIM:618250 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... |
OMIM:300952 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Cardiomyopathy, Failure to thrive |
ORPHA:324525 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
Ring Chromosome 10 Syndrome |
|
Frontal bossing, Cachexia |
ORPHA:1438 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Usher Syndrome |
|
Ataxia, Abnormal cardiovascular system physiology, Decreased fertility, Myopathy, Hypertrophic ca... |
ORPHA:886 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Frontal bossing, Multicystic kidney dysplasia, Ataxia, Hamartoma o... |
ORPHA:2750 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Edema, Vasculitis, Anemia, Weight loss |
ORPHA:324964 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Ataxia |
OMIM:614879 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Cyanosis |
OMIM:610773 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polyhydramnios, Edema, Hydrops fetalis, Hyperaldosteronism, Polydipsia, Failure to thrive |
OMIM:602522 |
Idiopathic Bronchiectasis |
|
Cachexia, Myocardial infarction |
ORPHA:60033 |
Osteosarcoma |
|
Joint swelling, Weight loss |
ORPHA:668 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Anhidrosis, Hepatomegaly, Frontal bossing, Splenomegaly, Hypohidrosis, Aplasia of the sweat gland... |
OMIM:612132 |
Hypomagnesemia 3, Renal |
|
Failure to thrive, Elevated circulating parathyroid hormone level, Polydipsia |
OMIM:248250 |
Rheumatoid Arthritis |
|
Joint swelling, Digital flexor tenosynovitis, Vasculitis, Weight loss |
OMIM:180300 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Costello Syndrome |
|
Hypoglycemia, Ventricular septal defect, Rhabdomyosarcoma, Polyhydramnios, Achilles tendon contra... |
OMIM:218040 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Hypoxemia, Weight loss |
ORPHA:79127 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Cyanosis, Facial palsy, C... |
ORPHA:31826 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Steppage gait, Lower limb muscl... |
ORPHA:521411 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Recurrent pancreatitis, Failure to thrive, Panc... |
OMIM:615947 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Thrombocytosis, Impaired neutrophil chemotaxis, Microcephaly, Peritonitis... |
ORPHA:2968 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Nephronophthisis 1 |
|
Hypertension, Polydipsia, Renal corticomedullary cysts, Anemia |
OMIM:256100 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hyperactivity, Small scrotum, Hypospadias, Microcephaly, Dolichocephaly, Cryptorchidism, Paroxysm... |
OMIM:309580 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Flexion contracture, Weight loss, Lymphadenopathy, Joint swelling, Hepatosplenomegaly, Anemia |
ORPHA:85408 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypertrophic cardiomyopathy, Joint contracture, Cerebral edema, Microcephaly |
OMIM:614462 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, Weakness of facial musculature, Flexion contracture, Cardiomyopathy, Myopathy, Lethargy, ... |
OMIM:201470 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Abnormal circulating thyroid hormone concentration, Cyst of the ductus choledochus, Brachycephaly... |
ORPHA:480880 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Weight loss |
OMIM:191390 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Ataxia, Microcephaly, Intraventricular ... |
ORPHA:420741 |
Yunis-Varon Syndrome |
|
Flat occiput, Polyhydramnios, Hydrops fetalis, Abnormal calvaria morphology, Micropenis, Parietal... |
OMIM:216340 |
Malt Lymphoma |
|
B-cell lymphoma, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Hyperhidrosis, Ly... |
ORPHA:52417 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Renal cyst, Dehydration, Polydipsia, Failure to thrive |
ORPHA:18 |
Waardenburg Syndrome, Type 4C |
|
Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism |
OMIM:613266 |
Retinoblastoma |
|
Lymphoma, Vitreous hemorrhage, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Whim Syndrome |
|
Neutropenia, Tetralogy of Fallot, Abnormal neutrophil morphology, Cellulitis, Lymphopenia |
ORPHA:51636 |
Atresia Of Urethra |
|
Pulmonary insufficiency, Ascites, Oligohydramnios |
ORPHA:105 |
Multiple Myeloma |
|
Splenomegaly, Weight loss, Lymphadenopathy, Pleural effusion, Anemia |
ORPHA:29073 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Edema, Weight loss, Iron deficiency anemia, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Kindler Epidermolysis Bullosa |
|
Turricephaly, Camptodactyly of finger, Phimosis, Flexion contracture, Neoplasm of the urethra, Sq... |
ORPHA:2908 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Camptodactyly... |
ORPHA:158687 |
Nephronophthisis 4 |
|
Polydipsia, Renal corticomedullary cysts, Anemia |
OMIM:606966 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Cap Polyposis |
|
Hematochezia, Weight loss |
ORPHA:160148 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Limb-Mammary Syndrome |
|
Absent nipple, Primary amenorrhea, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasia, Hyp... |
ORPHA:69085 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy |
ORPHA:53296 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Dysphagia, Slender build |
OMIM:603041 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia, Addictive alcohol use, Cerebral edema |
ORPHA:1930 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Craniosynostosis, Congestive h... |
ORPHA:3342 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Hypertension, Renal corticomedullary cysts, Chronic pancreatitis |
OMIM:613159 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Raynaud phenomenon, Heart block, Arterial occlusion, Acrocyanosis,... |
ORPHA:416 |
Proximal Renal Tubular Acidosis |
|
Hypovolemia, Dehydration, Glycosuria, Subvalvular aortic stenosis, Polydipsia, Failure to thrive |
ORPHA:47159 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Fingerpa... |
OMIM:600376 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Weight loss |
ORPHA:449400 |
Cantú Syndrome |
|
Macrocephaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Vici Syndrome |
|
Cardiomyopathy |
ORPHA:1493 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, High-out... |
OMIM:187300 |
Senior-Loken Syndrome 3 |
|
Polydipsia, Renal corticomedullary cysts |
OMIM:606995 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Anorexia, Weight loss |
ORPHA:37 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Hyperlipidemi... |
ORPHA:391665 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:35710 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Restrictive cardiomyopathy, Microcephaly, Small for gestational age, Primary microcephaly |
OMIM:616051 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Pineoblastoma |
|
Retinoblastoma, Lethargy, Pinealoma |
ORPHA:251909 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Cachexia, Anorexia, Abnormality of the thyroid gland, Abnormal mitral va... |
ORPHA:1969 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hamartomatous polyposis, Mitral v... |
OMIM:175050 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Pallister-Killian Syndrome |
|
Small scrotum, Edema of the dorsum of feet, Polyhydramnios, Congenital diaphragmatic hernia, Flex... |
OMIM:601803 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Microcephaly, Dilatation of the ventricular cavity, Card... |
ORPHA:363623 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia, Microcephaly |
ORPHA:2058 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss, Iron deficiency anemia, Lymphocytosis, Anoperineal fistula, Thrombocytosis, Reduced ... |
OMIM:301074 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Charge Syndrome |
|
Secundum atrial septal defect, Atrial septal defect, Overriding aorta, Hypogonadotropic hypogonad... |
OMIM:214800 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis, Weight loss |
ORPHA:747 |
Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight loss, Gra... |
OMIM:608710 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Weight loss |
OMIM:605543 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Cardiomyopathy, Epistaxis |
OMIM:203300 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Senior-Loken Syndrome 1 |
|
Polydipsia, Anemia |
OMIM:266900 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Cachexia, Congestive heart failure, Mitral v... |
ORPHA:558 |
Seckel Syndrome |
|
Craniosynostosis, Cachexia, Microcephaly |
ORPHA:808 |
Reactive Arthritis |
|
Aortic regurgitation, Joint swelling, Pericarditis, Weight loss |
ORPHA:29207 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss, Hypoglycemia, Dehydration, Glycosuria |
ORPHA:3337 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Anorexia, Weight loss, Macular edema, Vitreous hemorrhage, Normochromic anemia... |
ORPHA:91500 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Steatorrhea |
ORPHA:3217 |
Congenital Tracheal Stenosis |
|
Cyanosis, Ventricular septal defect, Polyhydramnios, Fetal ascites, Hypoplastic left heart, Oligo... |
ORPHA:141127 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Cachexia, Mitral valve prolapse, Macroglossia, Arrhythmia, Slender build... |
ORPHA:828 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros... |
OMIM:234700 |
Goodpasture Syndrome |
|
Cyanosis, Weight loss, Anemia, Pulmonary hemorrhage |
OMIM:233450 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |