Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
7q11.23 duplication syndrome |
|
Short attention span |
DECIPHER:43 |
Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... |
OMIM:103900 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Diabetes mellitus, Myocardial infarction |
OMIM:608320 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension, Hyperaldosteronism |
OMIM:617027 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... |
OMIM:605373 |
Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Focal dystonia, Gait ataxi... |
ORPHA:309169 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Hypertension, Type II diabetes mellitus, Myocardial infarction |
OMIM:610947 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Spinal Muscular Atrophy, Jokela Type |
|
Pes planus, Elevated circulating creatine kinase concentration, Tremor, Calf muscle hypertrophy, ... |
OMIM:615048 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hyperaldosteronism |
OMIM:605635 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... |
OMIM:168000 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Abnormal foot morphology, Decreased patellar reflex, Absent patellar reflexes, Mildly ele... |
OMIM:614369 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par... |
ORPHA:216873 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co... |
ORPHA:401901 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... |
OMIM:615954 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Pseudohypoaldosteronism |
OMIM:145260 |
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 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Absent Achilles reflex |
OMIM:311050 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Polycystic Kidney Disease 7 |
|
Hypertension |
OMIM:620056 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries |
ORPHA:79084 |
Preeclampsia/Eclampsia 1 |
|
Hypertension |
OMIM:189800 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myocl... |
OMIM:615924 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Hypertension, Transient ischemic attack |
OMIM:616779 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Ankle flexion contracture, Inability to walk, Babinski sign, Spastic tetraplegia, ... |
OMIM:616657 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f... |
ORPHA:247585 |
Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Hypertension, Type II diabetes mellitus, Myocardial infarction |
OMIM:615703 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... |
OMIM:219080 |
Lessel-Kubisch Syndrome |
|
Hypertension, Hypogonadism |
OMIM:618681 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension |
ORPHA:2820 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... |
ORPHA:3464 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension |
ORPHA:441 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... |
ORPHA:3085 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... |
OMIM:615830 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... |
ORPHA:158048 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:604367 |
Liddle Syndrome 2 |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618126 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity |
OMIM:611105 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Small hand, Inappropriate laughter... |
OMIM:616269 |
Ovarian Dysgenesis 10 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decr... |
ORPHA:453533 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ... |
ORPHA:276435 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hypertension, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
Maternally-Inherited Diabetes And Deafness |
|
Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi... |
ORPHA:225 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... |
ORPHA:231580 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto... |
ORPHA:79262 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Liddle Syndrome 1 |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:177200 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Pes cavus |
OMIM:617018 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Glutaric Aciduria Iii |
|
Hypertension, Hyperthyroidism, Goiter |
OMIM:231690 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr... |
ORPHA:251992 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... |
OMIM:213600 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors |
OMIM:159900 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Progressive neurologic deterioration, Tremor, Dysphagia, Choreoathetosis, Irritability,... |
OMIM:261630 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Confusion, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, H... |
OMIM:267700 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia, Pes cavus, Palmoplantar hyperkeratosis |
OMIM:309560 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... |
OMIM:606159 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism |
ORPHA:181 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension, Pseudohypoaldosteronism |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension, Pseudohypoaldosteronism |
OMIM:614495 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy... |
ORPHA:79299 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri... |
OMIM:540000 |
Preeclampsia |
|
Elevated diastolic blood pressure, Polycystic ovaries, Hypertension, Elevated systolic blood pres... |
ORPHA:275555 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension |
OMIM:616818 |
Congenital Generalized Lipodystrophy |
|
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Lipodystrophy... |
ORPHA:528 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis, Pes cavus |
OMIM:158580 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism, Cognitive impairme... |
OMIM:615768 |
Familial Cervical Artery Dissection |
|
Diabetes mellitus, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... |
ORPHA:36382 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... |
ORPHA:90041 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D... |
OMIM:612126 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Decreased circulating cortisol level, Hypotension |
OMIM:611489 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:218030 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Fatiguable weaknes... |
ORPHA:90117 |
Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension |
OMIM:613944 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension |
OMIM:601894 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Focal Segmental Glomerulosclerosis 5 |
|
Hypertension |
OMIM:613237 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev... |
OMIM:171400 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Micrognathia, Tremor, Cryptorchidism, Jaundice, Aggressive behavior, Hypertonia, Clinodactyly of ... |
OMIM:608093 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Bilateral coxa valga |
OMIM:620270 |
Focal Segmental Glomerulosclerosis 2 |
|
Hypertension |
OMIM:603965 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra... |
OMIM:615362 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension |
OMIM:607832 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Depression, Bradykinesia, Dystonia, ... |
OMIM:128235 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia |
OMIM:264070 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension |
ORPHA:2111 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension |
OMIM:161900 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Le... |
ORPHA:251282 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Potocki-Shaffer Syndrome |
|
Hypertension, Hypothyroidism, Delayed puberty |
ORPHA:52022 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... |
ORPHA:231625 |
Pseudohypoaldosteronism, Type Iie |
|
Hypertension, Pseudohypoaldosteronism |
OMIM:614496 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Hamme... |
OMIM:618387 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:369929 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Ataxia, Hepatosplenomegaly, ... |
OMIM:603553 |
Müllerian Aplasia And Hyperandrogenism |
|
Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm... |
ORPHA:247768 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Saccharopinuria |
|
Tremor, Mental deterioration, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abn... |
ORPHA:3124 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypertension,... |
ORPHA:231632 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Pseudohypoaldosteronism, Type Iic |
|
Hypertension, Pseudohypoaldosteronism, Decreased circulating renin level |
OMIM:614492 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension |
OMIM:137950 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... |
OMIM:612716 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,... |
ORPHA:521406 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... |
ORPHA:29073 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... |
ORPHA:435660 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension |
ORPHA:401945 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Tremor, Dementia, Tongue fasciculations, Myoc... |
OMIM:159950 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea... |
OMIM:614962 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Elevated circulating creatine kinase concentration, Tremor, Decreased fertility, Calf muscle hype... |
OMIM:313200 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Hypergonadotropic hypogonadism, Tremor, Elevated circulating phytanic acid concentration,... |
OMIM:614307 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Cognitive impairment, Hyperlysinemia, Anemia |
OMIM:238700 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... |
ORPHA:314632 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... |
OMIM:262600 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... |
ORPHA:791 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Vaginal neoplasm, Weight loss, Recurrent hypoglycemia, Prostate cancer, Hypoinsulin... |
ORPHA:2126 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin... |
ORPHA:79085 |
Late-Onset Familial Hypoaldosteronism |
|
Abnormal external genitalia, Abnormal circulating corticosterone level, Elevated serum 11-deoxyco... |
ORPHA:556037 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... |
ORPHA:3000 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Depression, Gait ataxia, Irritabi... |
OMIM:618093 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... |
ORPHA:435651 |
Classic Galactosemia |
|
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Ataxia, Cryptorchidism, Secondar... |
ORPHA:79239 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... |
ORPHA:314478 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Early-Onset Familial Hypoaldosteronism |
|
Abnormal external genitalia, Abnormal circulating corticosterone level, Elevated serum 11-deoxyco... |
ORPHA:556030 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Cognitive ... |
OMIM:617284 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Short attention span, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tan... |
OMIM:619028 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Insul... |
ORPHA:363400 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Insulin-resistant diabetes mellitus |
OMIM:608600 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Depression, Irritability,... |
ORPHA:248111 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro... |
ORPHA:79234 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Type I diabetes mellitus, Cryptorchidism, Hypertension |
ORPHA:1192 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor ... |
OMIM:208920 |
Liddle Syndrome |
|
Hypertension, Arrhythmia, Cerebral ischemia |
ORPHA:526 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
ORPHA:280679 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Hyperactivity, Broad-based gait, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Increased circulating very long-chai... |
OMIM:617916 |
Manganese Poisoning |
|
Decreased female libido, Postural tremor, Confusion, Akinesia, Aggressive behavior, Hypersexualit... |
ORPHA:306682 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Obesity, Oligomenorrhea |
OMIM:604931 |
Parkinson Disease 14, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel... |
OMIM:612953 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Cerebral palsy, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behavi... |
OMIM:301107 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Rigidity, Tremor, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Mental dete... |
ORPHA:240085 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremor, Rigidi... |
ORPHA:240103 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia, Myo... |
OMIM:605899 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Hypermanganesemia With Dystonia 2 |
|
Elevated circulating creatine kinase concentration, Progressive neurologic deterioration, Tremor,... |
OMIM:617013 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Restless legs, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Pa... |
OMIM:616710 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... |
ORPHA:454887 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Type II diabetes mellitus, Myocardial infarction |
OMIM:618620 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i... |
ORPHA:98763 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension |
OMIM:161950 |
Spastic Paraparesis And Deafness |
|
Tremor, Hypogonadism, Spastic paraparesis |
OMIM:312910 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity, Inguinal hernia, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Fai... |
OMIM:618362 |
Polycystic Kidney Disease 5 |
|
Hypertension |
OMIM:617610 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Small hand, Bruxism, Dysphagia, Bradykinesia, Ank... |
OMIM:617435 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... |
ORPHA:95619 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Epilepsy, Progressive Myoclonic 7 |
|
Mental deterioration, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait di... |
ORPHA:98764 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, B lympho... |
OMIM:241600 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammatory arteriopa... |
ORPHA:31825 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Clumsiness, Stereotypical body rocking, Agitatio... |
ORPHA:100973 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Ma... |
ORPHA:324575 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Atypical Rett Syndrome |
|
Restrictive behavior, Dystonia, Involuntary movements, Tremor, Inability to walk, Tongue thrustin... |
ORPHA:3095 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... |
OMIM:619405 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Dysphagia, Depression, Gait ataxia, Bradykinesia, Limb... |
ORPHA:71517 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Hypergonadotropic hypogonadism, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysm... |
OMIM:617145 |
Coproporphyria, Hereditary |
|
Hypertension, Tachycardia |
OMIM:121300 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic i... |
OMIM:246200 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... |
ORPHA:90795 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia, Pedal edema |
OMIM:152800 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, I... |
OMIM:614298 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A... |
OMIM:300148 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Hepatosplenomegaly, Myocl... |
ORPHA:2590 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchidism, Increased... |
OMIM:614736 |
Hypoglycemia, Leucine-Induced |
|
Ataxia, Hypoglycemia, Irritability, Hyperinsulinemic hypoglycemia, Spasticity |
OMIM:240800 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension |
ORPHA:79094 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... |
OMIM:308700 |
Hartnup Disorder |
|
Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional l... |
OMIM:234500 |
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 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Dysphagia... |
OMIM:261640 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Myocardial infarction |
ORPHA:54370 |
Slc35A2-Cdg |
|
Increased circulating thyroglobulin level, Camptodactyly of finger, Spastic tetraparesis, Coxa va... |
ORPHA:356961 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Galactokinase Deficiency |
|
Premature ovarian insufficiency, Small for gestational age, Hypergonadotropic hypogonadism, Hypog... |
ORPHA:79237 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... |
OMIM:612736 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Progressive neurologic deterioration, Tremor, Rigidity, Dysphagia, Choreoathetosis, Irr... |
OMIM:233910 |
Peripartum Cardiomyopathy |
|
Tachycardia, Diabetes mellitus, Abnormality of thyroid physiology, Right ventricular failure, Car... |
ORPHA:563 |
Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... |
OMIM:308750 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... |
OMIM:616222 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe... |
OMIM:619470 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension, Diabetes mellitus |
OMIM:615980 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... |
OMIM:194072 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Progressive neurolo... |
OMIM:300438 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... |
ORPHA:77296 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms |
OMIM:239500 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia |
OMIM:619651 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Primary amenorrhea, Delayed thelarche, Hyperinsulinemic... |
OMIM:616033 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke |
OMIM:615750 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonism, Action tremor, Dy... |
OMIM:300623 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Tremor, Rigidity, Splenomegaly, Irritability, Dystonia, Loss of a... |
OMIM:615010 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... |
OMIM:171420 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Cryptorchidism, Self-biting, Gonadal dysg... |
ORPHA:3306 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Central Precocious Puberty In Male |
|
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Attention deficit hy... |
ORPHA:649929 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... |
ORPHA:363710 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... |
ORPHA:79263 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Micrognathia, Tremor, Choreoathetosis, Male hypogonadism, Ataxia, Parkinsonism, Shuffling gait, B... |
OMIM:300055 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... |
OMIM:309548 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
Paroxysmal Hemicrania |
|
Hypertension, Diabetes mellitus |
ORPHA:157835 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Short palm, Broad-based gait, Ataxia, Tremor, Small hand, Dysmetria, Gait ataxia, Short foot, Dys... |
OMIM:610185 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Acute pancreat... |
OMIM:151660 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Hyperactivity, Ataxia, Elevated circulating cre... |
OMIM:615673 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Hammertoe, Hypertonia, Steppage gait, Mental deterioration, Spasticity, Pe... |
OMIM:609260 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:98793 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
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 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Progressive neurologic deterioration, Reactive hypoglycemia, Tremor, Hyperinsulinemia, Agitation,... |
ORPHA:276608 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism, Hypoglycemia |
ORPHA:2022 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,... |
ORPHA:48818 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Decreased circulating aldosterone level, Abnormality of circulating cortisol level,... |
ORPHA:320 |
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 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Spastic dys... |
ORPHA:240094 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Attention deficit hyperactivity disorder, Failure to thrive, Adrenal hy... |
OMIM:619151 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Dystoni... |
OMIM:606438 |
Trisomy X |
|
Tremor, Secondary amenorrhea, Depression, Hip dysplasia, Attention deficit hyperactivity disorder... |
ORPHA:3375 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... |
ORPHA:167 |
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 |
Stiff Skin Syndrome |
|
Hypertension, Type II diabetes mellitus |
ORPHA:2833 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Equinovarus deformity, Tremor, Abnormal foot morphology, Inability to walk, Hip dysplasia, Gait d... |
ORPHA:101077 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Abnormali... |
ORPHA:382 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Landau-Kleffner Syndrome |
|
Speech apraxia, Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Slurred sp... |
ORPHA:98818 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Micrognathia, Increased circulating ferritin concentration, Congenital hepatic fibr... |
ORPHA:446 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity |
OMIM:300983 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Co... |
OMIM:615157 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:820 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Talipes, Elevated circulating creatine kinase concentration, Tremor, Calf muscle h... |
ORPHA:209335 |
Senior-Loken Syndrome |
|
Hypertension |
ORPHA:3156 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoglycemia, Cryptorchidism, Hypoplasia of t... |
OMIM:607143 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp... |
ORPHA:90065 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Androgen Insensitivity Syndrome |
|
Inguinal hernia, Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina... |
OMIM:300068 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Riboflavin Transporter Deficiency |
|
Hypertension, Hypogonadism, Diabetes insipidus |
ORPHA:97229 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Hemiatrophy, Dystonia, Difficulty wa... |
ORPHA:306669 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca... |
ORPHA:439232 |
Progressive Supranuclear Palsy |
|
Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Depression, Blepharospasm, Bradykinesia,... |
ORPHA:683 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Palatal tremor, Chorea, Babi... |
ORPHA:157846 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulating hormone co... |
OMIM:617872 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia |
OMIM:260540 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Insulin-resistant diabetes mellitus, Diffi... |
ORPHA:401768 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Cryptorchidism, Failure to thrive, Self-mutilation |
OMIM:604317 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Amyloidosis, Familial Visceral |
|
Hypertension |
OMIM:105200 |
Perlman Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal pancreas morpholog... |
ORPHA:2849 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Pes planus, Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive... |
ORPHA:36387 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... |
OMIM:614473 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglyce... |
ORPHA:276580 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... |
OMIM:620211 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... |
OMIM:606693 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Dysmenorrhea, Mater... |
ORPHA:79083 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Depression, Hypertonia, Hyp... |
OMIM:619738 |
Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Tremor, Dysmetria, Depression, Gait ataxia, Progressive cer... |
ORPHA:254881 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension |
ORPHA:757 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... |
ORPHA:892 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Pes cavus |
OMIM:607458 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Depression... |
OMIM:616795 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Classic Phenylketonuria |
|
Tremor, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Hemiplegia, Attention defici... |
ORPHA:79254 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis |
ORPHA:494424 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Hyperactivity, Small for gestational age, Cryptorchidism, Abnormal repetitive ma... |
ORPHA:352490 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbuminemia, Thrombocyto... |
OMIM:226300 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Cerebral hemorrhage, Congestive heart failure, Palpitations, Para... |
ORPHA:94080 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Cryptorchidis... |
ORPHA:95496 |
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 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depress... |
ORPHA:79095 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type ... |
ORPHA:276575 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Ataxia, Attention deficit hyperactivity disorder |
OMIM:617113 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Inguinal hernia, Hypospadias, Small for gestational age, Dysmenorrhea, Hypoglycemi... |
ORPHA:397590 |
Cln5 Disease |
|
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... |
ORPHA:228360 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increased body weigh... |
ORPHA:398069 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Lipodystrophy, Dysm... |
ORPHA:2348 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
Denys-Drash Syndrome |
|
Hypertension |
ORPHA:220 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genita... |
ORPHA:90794 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Chorea, Abnormal pyramidal si... |
ORPHA:500180 |
Hsd10 Disease |
|
Short attention span, Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Gait disturbance, Myo... |
ORPHA:391417 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus |
OMIM:184850 |
Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic ... |
OMIM:616719 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertension, Type II diabetes mellitus, Myocardial infarction |
OMIM:615812 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension |
OMIM:616069 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax... |
ORPHA:210128 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Inguinal hernia, Supernumerary nipple, Precocious puberty, Cryptorchidism, Attention deficit hype... |
OMIM:619243 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Amenorrhea |
OMIM:600705 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypogonadism, Hypoglycemia |
ORPHA:163693 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea |
OMIM:184700 |
Leptospirosis |
|
Hepatomegaly, Anorexia, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension |
OMIM:603278 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thyroid lymphangiectasia, Micrognathia, Splenomegaly, Pancreatic lymphangiectasis, ... |
OMIM:235255 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Adrenocortical adenoma, Pheochromocytoma,... |
ORPHA:139411 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Secondary amenorrhea, Premature pubarche |
OMIM:612847 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Glomus ... |
OMIM:115310 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Glucose intolerance, Te... |
OMIM:235200 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyrotoxicosis with... |
ORPHA:525731 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:1349 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:600666 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism, Impulsivity, Tremor, ... |
ORPHA:240071 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec... |
ORPHA:813 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Second degree atrioventricular block, Primary hyperaldosteronism, Pulmonary arteria... |
OMIM:615474 |
Ataxia With Vitamin E Deficiency |
|
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... |
ORPHA:96 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Anorexia |
ORPHA:2494 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... |
OMIM:620306 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ... |
OMIM:618718 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, Falls, Myoclonus, Mental deterioration |
ORPHA:2382 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fin... |
OMIM:613280 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Achilles tendon contracture, Babinski sign, Dysmetria, Hand ... |
OMIM:302800 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Abnormal lymphatic vessel morphology, Reduced proportion of CD4+ effector me... |
ORPHA:90362 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Depression, Irritability, Att... |
OMIM:261600 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Rigidity, Inability to walk, Irritability, Athetosis, Gait disturbance, Myoclonus, ... |
OMIM:618241 |
Takayasu Arteritis |
|
Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi... |
ORPHA:3287 |
Sneddon Syndrome |
|
Hypertension, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Acute pancreatitis, Diabetes mellitus, Lipodystrophy, Reduce... |
OMIM:608594 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Pes planus, Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Depression, Self-injurious be... |
OMIM:619467 |
Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... |
ORPHA:99725 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Pes cavus, Spastic gait |
OMIM:600363 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Inherited Creutzfeldt-Jakob Disease |
|
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... |
ORPHA:282166 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
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 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, Spastic pa... |
ORPHA:329284 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity, P... |
OMIM:213200 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Emotional lability, Depression,... |
OMIM:137440 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Young-Onset Parkinson Disease |
|
Female sexual dysfunction, Short attention span, Restless legs, Impulsivity, Tremor, Rigidity, De... |
ORPHA:2828 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Increased circulating free fatt... |
ORPHA:26793 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... |
OMIM:610600 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Pes planus, Hyperactivity, Aggressive behavior, Cryptorchidism, Chorea, Un... |
ORPHA:485350 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension |
ORPHA:567544 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Micrognathia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary ... |
ORPHA:1655 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Hoffmann sign, Dysmetria, Male hypogonadism, Hyperactivity, Ataxia, Confusion, Abnormal circulati... |
ORPHA:139396 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Acute pancreatitis, Hypertriglyceridemia, Lipodystrophy, Red... |
OMIM:269700 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp... |
OMIM:615895 |
Nephronophthisis 18 |
|
Hypertension |
OMIM:615862 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Neonatal hypoglycemia, Sex reversal, Am... |
ORPHA:168558 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Neonatal hypogly... |
ORPHA:289548 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... |
ORPHA:2298 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... |
ORPHA:96184 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental... |
ORPHA:542310 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... |
OMIM:618187 |
Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Inap... |
OMIM:168605 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Clonus, Athetosis, Hyperalaninemia |
OMIM:266150 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Incoordination, Paralysis, Aggressive behavior, Paraparesis, Progressive spastic p... |
ORPHA:43 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Adr... |
OMIM:273395 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... |
ORPHA:3411 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia |
ORPHA:329249 |
Polyarteritis Nodosa |
|
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension |
ORPHA:767 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
4H Leukodystrophy |
|
Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysmetria, Dysphagia, Progressive gait ataxia, Dys... |
ORPHA:289494 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension |
OMIM:616733 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contractu... |
OMIM:608799 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Eunuchoid habitus, Male infertility, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Pes planus, Hyperactivity, Sandal gap, Aggressive behavior, Tremor, Cryptorchidism, Small hand, G... |
OMIM:300354 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation |
OMIM:173900 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, ... |
ORPHA:276556 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Abnormality of the musculature of the lower limbs, Parkinsonism, Progressive neurologic deteriora... |
ORPHA:329478 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... |
ORPHA:845 |
Dystonia 28 |
|
Precocious puberty, Hypothyroidism, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:589618 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
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Tremor, Pes cavus, Ataxia, Gait disturbance |
ORPHA:101075 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Myocardial infarction, Delayed puberty |
OMIM:208060 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Ochoa Syndrome |
|
Cryptorchidism, Hypertension |
ORPHA:2704 |
Behr Syndrome |
|
Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Unsteady gait, Dysmetria, Dysphagia, ... |
OMIM:210000 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements, ... |
OMIM:617302 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Microphthalmia With Limb Anomalies |
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Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypo... |
ORPHA:73272 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
OMIM:176270 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
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Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor... |
OMIM:312080 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Dysphagia |
OMIM:619473 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Pes planus, Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysme... |
ORPHA:1170 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
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Precocious puberty, Hyperactivity, Aggressive behavior |
ORPHA:457260 |
48,Xxyy Syndrome |
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Pes planus, Ataxia, Hypergonadotropic hypogonadism, Talipes, Tremor, Cryptorchidism, Depression, ... |
ORPHA:10 |
Neurodegeneration With Brain Iron Accumulation 5 |
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Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, ... |
OMIM:300894 |
Tsh-Secreting Pituitary Adenoma |
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Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Multiple System Atrophy, Cerebellar Type |
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Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Coach Syndrome 2 |
|
Hypertension |
OMIM:619111 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
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Confusion, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubat... |
OMIM:607483 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Weight loss, Infertility, E... |
ORPHA:465508 |
Aarskog-Scott Syndrome |
|
Inguinal hernia, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypto... |
OMIM:305400 |
Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia, Hepatomegaly |
ORPHA:99828 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Familial Cerebral Saccular Aneurysm |
|
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Ataxia, Abnormal testis morphology, Tremor, Gait disturbance, Type II diabetes... |
ORPHA:100 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Increased body mass index, Decreased thyroid-stimulating hormone level,... |
ORPHA:300373 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Ataxia, Arachnodactyly, Tremor, Abnormal repetitive mannerisms, Gait ataxia, Hyperton... |
OMIM:619092 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, M... |
ORPHA:90790 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclo... |
ORPHA:139485 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Tremor, Rigidity, Dementia, Gait disturbance, Cognitive impairment |
OMIM:603472 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia |
OMIM:610245 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive he... |
ORPHA:276621 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... |
OMIM:171300 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... |
ORPHA:562 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Anorexia, Precocious puberty, Ovarian neoplasm, Weight lo... |
ORPHA:370348 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension |
OMIM:166300 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism |
OMIM:614613 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypertension, Pituitary adenoma, Increased circulating ACTH level |
OMIM:219090 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Elevated circulating creatine kinase concentration, Dysphagia |
OMIM:619790 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Hyperactivity, Aggressive behavior, Decreased body weight |
OMIM:300958 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Progressive neurologic deterioration, Tremor, Abnormal circulating fatty-acid conce... |
ORPHA:263455 |
Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Split hand, Talipes calcaneovalgus, Hammertoe, Steppage gait, Gait disturbance, Pes cavus |
OMIM:118300 |
Acquired Generalized Lipodystrophy |
|
Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance... |
ORPHA:79086 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
Septopreoptic Holoprosencephaly |
|
Impulsivity, Precocious puberty, Dysphagia, Anterior hypopituitarism, Central diabetes insipidus |
ORPHA:280195 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... |
OMIM:610217 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Abnormality of the pancreas, Hypoproteinemia, Anemia, Exocrine pancreatic insu... |
ORPHA:2315 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Tremor, Babinski sign, Slurred speech, Unsteady gait, Leg muscle stiffness, Clums... |
ORPHA:137898 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:618061 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dysmetria, Oculo... |
OMIM:614867 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Pes cavus, Ataxia, Gait disturbance |
ORPHA:101078 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy |
OMIM:160900 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Micrognathia, Tremor, Inability to wa... |
OMIM:617675 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Pes planus, Hyperactivity, Cerebral palsy, Arachnodactyly, Chorea, Myoclonus, Attention deficit h... |
OMIM:617600 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level |
ORPHA:96181 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Congenital Analbuminemia |
|
Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hyp... |
ORPHA:86816 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose tolerance, Precocious pub... |
ORPHA:769 |
Fabry Disease |
|
Transient ischemic attack, Angina pectoris, Myocardial infarction, Congestive heart failure, Hype... |
OMIM:301500 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t... |
ORPHA:199351 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, C... |
ORPHA:29072 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Sandal gap, Aggressive behavior, Unsteady gait, Diminished ability to concentrate,... |
OMIM:615516 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... |
OMIM:616113 |
Monosomy 18P |
|
Hypertension, Hypothyroidism |
ORPHA:1598 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension, Hypothyroidism |
OMIM:617763 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia |
OMIM:613870 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit hyperactivity disorder, Hyperi... |
ORPHA:35878 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Femoral-Facial Syndrome |
|
Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Coxa vara, Abnormal fibula morpholo... |
ORPHA:1988 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Babinski sign, Dysmetria, Dysphag... |
OMIM:607694 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Chorea, Hypertonia, ... |
ORPHA:2388 |
Cystathioninuria |
|
Cystathioninemia, Talipes equinovarus, Tremor |
ORPHA:212 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... |
ORPHA:1578 |
Juvenile Paget Disease |
|
Hypertension |
ORPHA:2801 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Testicular atrophy, Congenital diaphragmatic hernia |
OMIM:601163 |
Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Nephroblastoma |
|
Hypertension |
ORPHA:654 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Self-mutilation, Depression, Hip dysplasia, Hyperkinetic movements, Upper limb spasticity... |
ORPHA:457240 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Postaxial polydactyly, Abnormal eating behavior, Tremor, Poor coordination, Obsessive-com... |
ORPHA:544254 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Oromandibular dystonia, Dysmetria, Gait ataxia, Chore... |
ORPHA:101 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:369873 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short ste... |
OMIM:620076 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
C3 Glomerulopathy |
|
Hypertension |
ORPHA:329918 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Leg muscle stiffness, Dysp... |
OMIM:615530 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ... |
OMIM:620023 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Sandal gap, Cryptorchidism, Polyphagia, Self-injurious behavior, Hip dyspl... |
ORPHA:228402 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Tremor, Spastic tetraplegia, D... |
OMIM:617710 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... |
OMIM:234200 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Overlap Myositis |
|
Raynaud phenomenon, Hypertension, Diabetes mellitus, Pulmonary arterial hypertension |
ORPHA:206572 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Hypertension |
ORPHA:449291 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Spastic tetraparesis, Imp... |
ORPHA:35069 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturity-onset diabetes of the young,... |
OMIM:137920 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Dysphagia, Depression, Bradykinesia, Dementia, Gait distu... |
OMIM:168601 |
Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipidemia, Obesity, Self-inj... |
ORPHA:254346 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Atrioventricular block, Polycystic ovaries, Hypertension, Type I diabetes me... |
ORPHA:371428 |
Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response ... |
ORPHA:363528 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Diabetes mellitus, Hypertension |
ORPHA:69663 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac... |
OMIM:300624 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
Seckel Syndrome 10 |
|
Diabetes mellitus, Elevated circulating luteinizing hormone level, Congestive heart failure, Hype... |
OMIM:617253 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cognitive impairment, Dystonia... |
ORPHA:70594 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Abnormality of the ovary, ... |
OMIM:209900 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi... |
OMIM:616300 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension |
OMIM:123550 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia, Exocrine pancreatic insufficiency |
OMIM:260450 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Iliac crest serration, Rhizomelia, Hypoplasia... |
ORPHA:239 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Dysmenorrhea, Irregular menstruation, Increased body weight, ... |
ORPHA:264580 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia, Attention deficit hyperactivity disorder |
OMIM:617914 |
Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty, Failure to thrive |
ORPHA:293181 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Hypoplasia of penis, Hyperactivity, Camptodactyly of finger, Cachexia, Aggressiv... |
ORPHA:85293 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Depression, Bradykinesia, Dementia, Dy... |
OMIM:168600 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Ataxia-Telangiectasia |
|
Tremor, Choreoathetosis, Glucose intolerance, T lymphocytopenia, Hypoplasia of the thymus, Intent... |
OMIM:208900 |
Caudal Regression Syndrome |
|
Cryptorchidism, Hypertension, Maternal diabetes |
ORPHA:3027 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension |
OMIM:618913 |
Nephronophthisis 2 |
|
Hypertension, Pulmonary insufficiency |
OMIM:602088 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Impulsivity |
OMIM:300143 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Paraparesis, Gait disturbance, Pes cavus |
ORPHA:99014 |
Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hepatomegaly, Cerebral palsy, Ataxia, Hyperactivity, Aggressive behavior, ... |
ORPHA:163681 |
Fg Syndrome 3 |
|
Hyperactivity, Cryptorchidism, Joint contracture |
OMIM:300406 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
OMIM:606002 |
Heme Oxygenase 1 Deficiency |
|
Hypertension, Epistaxis, Diffuse alveolar hemorrhage |
OMIM:614034 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Dysphagia, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Camptodactyly, Failure t... |
ORPHA:412035 |
Obesity And Hypopigmentation |
|
Polyphagia, Hyperinsulinemia, Obesity |
OMIM:620195 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Short attention span, Hyperactivity, Broad-based gait, Ataxia, ... |
ORPHA:98794 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... |
ORPHA:247691 |
Familial Pseudohyperkalemia |
|
Hypertension |
ORPHA:90044 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropen... |
OMIM:617575 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia, Obesity |
OMIM:618406 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... |
OMIM:618877 |
Mohr-Tranebjaerg Syndrome |
|
Dystonia, Tremor, Dysphagia, Mental deterioration, Spasticity |
OMIM:304700 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Hip dislocation, Dysmetri... |
OMIM:614381 |
Liver Disease, Severe Congenital |
|
Micrognathia, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron... |
OMIM:619991 |
Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... |
ORPHA:1359 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Arthrogryposis multiplex congenita, Vaginal atresia |
OMIM:616258 |
Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hor... |
OMIM:242900 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Small for gestational age, Elevated circulating luteinizing hormone level, Hypoplasi... |
OMIM:618419 |
Mirage Syndrome |
|
Hyponatremia, Hypergonadotropic hypogonadism, Rocker bottom foot, Hypoglycemia, Thrombocytopenia,... |
OMIM:617053 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Labial hypoplasia, Attention deficit hyperactivity disorder, ... |
OMIM:620073 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Enlarged ovaries, Overgrowth of external genitalia, Labial h... |
ORPHA:508 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Chorea, Athetosis, Hypertonia... |
ORPHA:52503 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Hypercalcemia, Micrognathia, Tremor, Unilateral radial aplasia, Tapered finger, Parti... |
ORPHA:476126 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Abnormal central motor function, Hypouricemia, Ataxia, Cerebral pals... |
ORPHA:760 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
49,Xxxxy Syndrome |
|
Pes planus, Down-sloping shoulders, Coxa valga, Tremor, Cryptorchidism, Hip dislocation, Irritabi... |
ORPHA:96264 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty, Abnormal repetitive mannerisms |
OMIM:619877 |
48,Xxxy Syndrome |
|
Pes planus, Down-sloping shoulders, Coxa valga, Tremor, Cryptorchidism, Hip dislocation, Irritabi... |
ORPHA:96263 |
Werner Syndrome |
|
Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Ovarian neoplasm, Hy... |
ORPHA:902 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Impulsivity, Akinesia, Rigidity, Dysphagia, Depression, Bradykinesi... |
ORPHA:411602 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation... |
ORPHA:309854 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Hypertension |
OMIM:301050 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tapered finger, Tremor, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Steppage gait,... |
OMIM:616505 |
Gaucher Disease, Type I |
|
Epistaxis, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic valve sten... |
OMIM:230800 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Alagille Syndrome 2 |
|
Hypertension, Pulmonic stenosis |
OMIM:610205 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Irritability, Decreased serum zinc, Hypogonadism, Emo... |
OMIM:201100 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, 2-3 toe cutaneous syndactyly... |
OMIM:620242 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Cyanosis, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormo... |
OMIM:250790 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension |
OMIM:191830 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Cryptorchidism, Depression, Hyperkinetic movements, Gait disturbance, Spasticity, Hip sub... |
OMIM:300957 |
Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypertension, Hyperaldosteronism, Increased circulating renin level |
OMIM:612780 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Pheochromocytoma, Paraganglioma |
OMIM:193300 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Abnormal emoti... |
ORPHA:1942 |
19P13.3 Microduplication Syndrome |
|
Precocious puberty, Self-injurious behavior, Hyperactivity, Unilateral cryptorchidism |
ORPHA:447980 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Tibial bowing, Hypoplastic iliac wing, Hepatoblastoma, Small proximal tibial epiphy... |
ORPHA:96334 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Obsessive-compulsive trait, Dement... |
ORPHA:168491 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty, Neonatal hypoglycemia, Camptodactyly |
OMIM:301032 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Uro... |
OMIM:618820 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension, Hypothyroidism |
ORPHA:98808 |
Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension |
OMIM:617021 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Lower limb spasticity, Hyperactivity, Clonus, Babinski sign, Spastic paraplegia, Upper limb spast... |
OMIM:609727 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Structural foot deformity, Vocal cord paralysis, Dysphagia, Mildly elevated creatine kinase |
ORPHA:397744 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Hypergonadotropic hypog... |
OMIM:607426 |
Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Irrit... |
OMIM:207800 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Incoordination, Ataxia, Clonus, Elevated circulating creatine kinase concentration, Involuntary m... |
ORPHA:480864 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia,... |
OMIM:254900 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment |
OMIM:607876 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At... |
ORPHA:99027 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplasia of the uterus, Bicor... |
OMIM:601186 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty, Head-banging |
OMIM:619356 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal ... |
ORPHA:646 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage |
OMIM:618886 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypertension, Delayed puberty |
ORPHA:251004 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... |
ORPHA:79644 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:613320 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Micrognathia, Tremor, Dysmetria, Depression, Primary amenorrhea, Progressive cerebellar ataxia, D... |
ORPHA:502423 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Brachydactyly, Hyperactivity, Micrognathia, Aggressive behavior, Cryptorchidism, Ba... |
OMIM:300534 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty |
OMIM:615866 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Tremor, Polyminimyoclonus, Impaired tandem gait, Areflexia of lower limbs, Clubbing of fingers, F... |
OMIM:619574 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Lead Poisoning |
|
Hypertension, Decreased circulating osteocalcin level, Delayed puberty |
ORPHA:330015 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... |
OMIM:603671 |
Porphyria Variegata |
|
Inappropriate antidiuretic hormone secretion, Hypertension, Tachycardia |
ORPHA:79473 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Hepatomegaly, Waddling gait, Dystonia, Ataxia, Elevated circulating creatine kina... |
OMIM:615356 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Abnormality of thyroid physiology, Congestive heart failure, Hypertens... |
ORPHA:1830 |
Livedoid Vasculopathy |
|
Diabetes mellitus, Telangiectasia of the skin, Hypertension, Ischemic stroke, Graves disease |
ORPHA:542643 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Ollier Disease |
|
Precocious puberty |
ORPHA:296 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Dysphagia, Athetosis, Dement... |
ORPHA:25 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Precocious puberty |
OMIM:300801 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Anorexia, Increa... |
ORPHA:85138 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Abnormal repetitive manne... |
ORPHA:819 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Rocker bottom foot, Dysphagia, Hypoplastic spleen, Adducted thumb |
ORPHA:89844 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Pr... |
ORPHA:96182 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Tremor, Abnormal pyramidal sign, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia,... |
ORPHA:3008 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Hypertension |
OMIM:613159 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension |
OMIM:612924 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto... |
OMIM:258315 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension |
OMIM:612926 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Myocardial infarction |
OMIM:208000 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis |
OMIM:617516 |
Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:215600 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:91355 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Ataxia, Hypouricemia, Increased circulating guanosine concentration,... |
OMIM:613179 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Clonus, Elevated circulating creatine kinase concentration, Oral-pharyngeal dysphagia, El... |
OMIM:616878 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Leopard Syndrome 1 |
|
Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... |
OMIM:151100 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Hypothyroidism, Hypotension |
ORPHA:93256 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyr... |
ORPHA:653 |
Optic Pathway Glioma |
|
Precocious puberty |
ORPHA:2086 |
Woolly Hair Nevus |
|
Precocious puberty |
ORPHA:79414 |
Nestor-Guillermo Progeria Syndrome |
|
Decreased serum leptin, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary ... |
OMIM:614008 |
Spondyloenchondrodysplasia |
|
Decreased response to growth hormone stimulation test, Raynaud phenomenon, Vasculitis, Hypertensi... |
ORPHA:1855 |
Alport Syndrome 2, Autosomal Recessive |
|
Hypertension |
OMIM:203780 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Portal hypertension, Hypertension, Increased blood pressure, Hypothyroidism |
OMIM:619487 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor... |
OMIM:263520 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic ... |
OMIM:617925 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Hypoplasia of the uterus, Chordee, Micro... |
OMIM:309801 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Oculom... |
OMIM:618060 |
Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Hyperglycemia, Premature ovarian insufficiency, Abnormal circulating le... |
ORPHA:79474 |
Alagille Syndrome |
|
Telangiectasia of the skin, Cryptorchidism, Hypertension, Delayed puberty |
ORPHA:52 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Primary testicular failure, Congestive heart failure, Hypertension, ... |
ORPHA:85450 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension |
OMIM:612925 |
Kleefstra Syndrome Due To A Point Mutation |
|
Inguinal hernia, Large for gestational age, Precocious puberty, Self-injurious behavior, Umbilica... |
ORPHA:261652 |
Nephronophthisis 1 |
|
Hypertension |
OMIM:256100 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Hypertension, Pituitary growth hormone cell adenoma |
ORPHA:730 |
Angelman Syndrome |
|
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel... |
ORPHA:72 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Confusion, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Impoten... |
OMIM:105210 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Tremor, Hand tremor,... |
OMIM:277900 |
Adenine Phosphoribosyltransferase Deficiency |
|
Hypertension, Atrial fibrillation |
ORPHA:976 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive... |
ORPHA:183 |
Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia |
OMIM:176000 |
9P13 Microdeletion Syndrome |
|
External genital hypoplasia, Precocious puberty, Attention deficit hyperactivity disorder, Bruxis... |
ORPHA:324313 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu... |
ORPHA:79443 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhage, Hypertension, Mitra... |
ORPHA:363618 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Rhizomelia, Neonatal hypoglycemia, Micrognathia, Tremor, Neutropenia, Opisthotonus, Chore... |
OMIM:616271 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous ... |
OMIM:206920 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... |
OMIM:618056 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosi... |
OMIM:613027 |
Hyperlysinemia |
|
Short attention span, Neck hypertonia, Hyperactivity, Poor motor coordination, Spastic tetrapares... |
ORPHA:2203 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir... |
ORPHA:713 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Interstitial Cystitis |
|
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... |
ORPHA:37202 |
Methylcobalamin Deficiency Type Cble |
|
Hypertension |
ORPHA:2169 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Hemidystonia, Tapered finger, Tremor, Aggressive behavior, Attention... |
OMIM:619680 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy... |
ORPHA:2495 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Metaphyseal chondrodysplasia, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait distu... |
ORPHA:83629 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
Primary Progressive Freezing Gait |
|
Hypertension |
ORPHA:75567 |
Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Attention deficit hyperactivity di... |
OMIM:619312 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:613095 |
8P Inverted Duplication/Deletion Syndrome |
|
Impulsivity, Precocious puberty, Cryptorchidism, Contractures of the large joints, Aplasia/Hypopl... |
ORPHA:96092 |
Alexander Disease |
|
Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hypertension, Hypotension, Hypothyro... |
ORPHA:58 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Hypogl... |
ORPHA:199299 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Micropenis, Decreased testicular... |
OMIM:619321 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Migraine, Familial Hemiplegic, 2 |
|
Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Coach Syndrome 1 |
|
Hypertension, Portal hypertension |
OMIM:216360 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Diabetes mellitus, Ataxia, Elevated circulating creatine kinase concentration, Tr... |
ORPHA:254892 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hypertension, Portal hypertension, Hematemesis |
OMIM:263200 |
Wagro Syndrome |
|
Hypertension, Decreased testicular size |
OMIM:612469 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, 2-3 toe syndactyly, Irritability, Glucose intoler... |
OMIM:616539 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hypertension |
OMIM:619758 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... |
OMIM:616586 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension |
OMIM:614424 |
Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Slender long bone, Hypocalcemia, Hypoplastic spleen, Brachydactyly |
OMIM:602361 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
Birk-Landau-Perez Syndrome |
|
Hypertension |
OMIM:617595 |
Scalp-Ear-Nipple Syndrome |
|
Type I diabetes mellitus, Hypertension, Breast aplasia |
ORPHA:2036 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... |
OMIM:185070 |
Neuroblastoma, Susceptibility To, 1 |
|
Hypertension |
OMIM:256700 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Glycogen Storage Disease Ia |
|
Hypertension, Delayed puberty |
OMIM:232200 |
Carpenter Syndrome 1 |
|
Omphalocele, External genital hypoplasia, Precocious puberty, Cryptorchidism, Obesity, Camptodact... |
OMIM:201000 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis |
OMIM:611812 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Diffuse Cutaneous Systemic Sclerosis |
|
Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hypertension, Hypertensi... |
ORPHA:220393 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Cryptorchidism, Hypertension, Pulmonary arterial hypertension |
OMIM:613834 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Neonatal hypoglycemia, Aggressive behavior, Tremor, Positional foot deformity, Spastic te... |
ORPHA:572798 |
Alg9-Cdg |
|
Omphalocele, Lipodystrophy, Bicornuate uterus, Hypoplasia of the ovary, Hypoplastic nipples |
ORPHA:79328 |
Renal Hypoplasia, Bilateral |
|
Cryptorchidism, Hypertension |
ORPHA:97362 |
Acute Interstitial Pneumonia |
|
Hypertension |
ORPHA:79126 |
Glycogen Storage Disease Ib |
|
Hypertension, Pancreatic fibrosis, Delayed puberty |
OMIM:232220 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ... |
OMIM:608747 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Cryptorchidism, Hypertrophic cardiomyopathy, Hypertension, Arrhythmia |
OMIM:614052 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... |
ORPHA:91139 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Alternating Hemiplegia Of Childhood |
|
Skewfoot, Ataxia, Progressive neurologic deterioration, Anorexia, Tremor, Rigidity, Chorea, Episo... |
ORPHA:2131 |
Brain-Lung-Thyroid Syndrome |
|
Short attention span, Hyperactivity, Dystonia, Ataxia, Incoordination, Involuntary movements, Abn... |
ORPHA:209905 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hem... |
ORPHA:512 |
Sickle Cell Disease |
|
Cholelithiasis, Hypertension |
OMIM:603903 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:248370 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renovascular hypertension, Large vessel vasculitis, Hydrocele testis, Hypertension, Budd-Chiari s... |
ORPHA:49041 |
Tick-Borne Encephalitis |
|
Speech apraxia, Incoordination, Elevated circulating C-reactive protein concentration, Paralysis,... |
ORPHA:297 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Tachycardia |
OMIM:223900 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hemoperitoneum, Bra... |
ORPHA:99827 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:314769 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... |
OMIM:609152 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... |
ORPHA:31826 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia... |
OMIM:601104 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Cryptorchidism, Hypertension |
ORPHA:1555 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr... |
ORPHA:99226 |
Turner Syndrome |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr... |
ORPHA:881 |
Occipital Horn Syndrome |
|
Coxa vara, Humerus varus, Short palm, Large iliac wing, Aplastic clavicle, Hepatitis, Abnormal pu... |
ORPHA:198 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bowing of the long bones, Ataxia, Tremor, Thrombocytopenia, Metaphyseal sclerosis, Abnormal pyram... |
OMIM:612199 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, Labial hypertro... |
ORPHA:96191 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Portal hypertension, Raynaud phenomenon, Dilated cardiomyopathy, Vasculitis, Hypertension, Type I... |
OMIM:615688 |
Bainbridge-Ropers Syndrome |
|
Supernumerary nipple, Precocious puberty, Cryptorchidism, Contracture of the proximal interphalan... |
OMIM:615485 |
Japanese Encephalitis |
|
Hyponatremia, Dystonia, Weakness due to upper motor neuron dysfunction, Neutrophilia, Genu recurv... |
ORPHA:79139 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Hypotension |
ORPHA:134 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Irregular menstruation, Thyroiditis, Hypoglyc... |
ORPHA:79259 |
Renal Hypoplasia |
|
Hypertension |
ORPHA:93101 |
Cockayne Syndrome Type 1 |
|
Male hypogonadism, Hypertension, Cryptorchidism |
ORPHA:90321 |
Myhre Syndrome |
|
Abnormal penis morphology, Inguinal hernia, Hypospadias, External genital hypoplasia, Femoral her... |
ORPHA:2588 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubine... |
OMIM:208500 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lower limb hypertonia, Dement... |
ORPHA:447753 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Poliomyelitis |
|
Hypertension, Hypovolemic shock, Hypotension |
ORPHA:2912 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... |
ORPHA:900 |
Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Cryptorchidism, Pheochromocytoma, Hyperhidrosis |
ORPHA:2874 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Hypotension |
OMIM:174000 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Flexion contracture, Hyperinsulinemia, D... |
OMIM:613327 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Confusion, Tremor, Jaundice, Schistocytosis, Elevated circulating creatinine con... |
OMIM:274150 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:963 |
Glycogen Storage Disease Ic |
|
Hypertension, Pulmonary arterial hypertension, Spider hemangioma, Delayed puberty |
OMIM:232240 |
Aorta Coarctation |
|
Congestive heart failure, Hypertension, Pulmonary arterial hypertension |
ORPHA:1457 |
Omodysplasia 2 |
|
Dyspareunia, Short humerus, Micrognathia, Cryptorchidism, Fibular hypoplasia, Hypoplastic distal ... |
OMIM:164745 |
Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Tachycardia |
ORPHA:1764 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Waddling gait, Sandal gap, Micrognathia, Tremor, Cryptorchidism, Long fingers, Tip... |
OMIM:617557 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hydrocele testis, Hypertension, Pulmonary embolism |
ORPHA:567546 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Abnormality of female external genitalia, Truncal obesity, Attention deficit ... |
ORPHA:2637 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hypertension |
OMIM:235400 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenosis, Telangiectases of the... |
OMIM:208050 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur |
ORPHA:402075 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l... |
ORPHA:91387 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Bartter Syndrome Type 4 |
|
Hypertension, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating ren... |
ORPHA:89938 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval |
OMIM:614947 |
Intrahepatic Cholestasis Of Pregnancy |
|
Tremor, Abnormality of the pancreas, Jaundice, Depression, Cholecystitis, Increased serum bile ac... |
ORPHA:69665 |
Apert Syndrome |
|
Hypertension, Ovarian neoplasm |
ORPHA:87 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Male infertility |
OMIM:618948 |
Tuberous Sclerosis 1 |
|
Dental enamel pits, Precocious puberty, Adenoma sebaceum, Attention deficit hyperactivity disorde... |
OMIM:191100 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Renal Agenesis |
|
Hypertension |
ORPHA:411709 |
Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Tremor, Hepatomegaly, Elevated circulating creatine kinase concentration, Clonus |
OMIM:619424 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity |
OMIM:176500 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Hypertension, Pheochromoc... |
ORPHA:805 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension |
OMIM:616914 |
Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... |
ORPHA:699 |
Neurofibromatosis, Type I |
|
Parathyroid adenoma, Hypertension, Pheochromocytoma |
OMIM:162200 |
Lesch-Nyhan Syndrome |
|
Self-injurious behavior, Testicular atrophy, Dysphagia |
OMIM:300322 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Periodic paralysis |
OMIM:613239 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Kallmann Syndrome |
|
Dyspareunia, Pes planus, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Decreased... |
ORPHA:478 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... |
ORPHA:466677 |
Posterior Urethral Valve |
|
Hypertension |
ORPHA:93110 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hypoglycemia, Aggressive behavior, Precocious puberty, Obesity, Umbilical hernia, Cholelithiasis,... |
OMIM:301066 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence, Cognitive impairment |
OMIM:146500 |
Xfe Progeroid Syndrome |
|
Hypertension |
OMIM:610965 |
Schinzel-Giedion Syndrome |
|
Inguinal hernia, Streak ovary, Hypospadias, Failure to thrive in infancy, Dysphagia, Micropenis, ... |
ORPHA:798 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... |
ORPHA:394 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... |
ORPHA:340 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypospadias, Precocious puberty, Truncal obesity, Type II diabetes mellitus, Enamel hypoplasia |
OMIM:210720 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Type I diabetes mellitus, Dentinogenesis imperfecta, Obesity |
OMIM:619269 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Chronic... |
OMIM:307030 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Alport Syndrome 3A, Autosomal Dominant |
|
Hypertension |
OMIM:104200 |
Aicardi-Goutieres Syndrome 7 |
|
Hematemesis, Vasculitis, Hematochezia, Hypertension, Hypertrophic cardiomyopathy, Hypothyroidism |
OMIM:615846 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:600376 |
Hurler Syndrome |
|
Cardiomyopathy, Hypertension, Angina pectoris |
ORPHA:93473 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm |
OMIM:613807 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... |
ORPHA:424 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Jaundice, Unsteady ... |
OMIM:615512 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, H... |
OMIM:610505 |
Galloway-Mowat Syndrome 3 |
|
Hypertension |
OMIM:617729 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hypertension, Diabetes mellitus, Hypertensive crisis |
ORPHA:544482 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
Denys-Drash Syndrome |
|
Hypertension, Ovarian gonadoblastoma |
OMIM:194080 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Retrograde ejaculation, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Oligomeganephronia |
|
Hypertension |
ORPHA:2260 |
Papillorenal Syndrome |
|
Hypertension |
OMIM:120330 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Tremor,... |
OMIM:214500 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Hallermann-Streiff Syndrome |
|
Cryptorchidism, Hypertension, Pulmonary arterial hypertension, Telangiectasia |
OMIM:234100 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Acute Intermittent Porphyria |
|
Hypertension, Tachycardia |
ORPHA:79276 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension |
OMIM:123790 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Female hypogonadism, Mitral stenosis, Decreased serum leptin, Angina pector... |
ORPHA:740 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Acromelic Frontonasal Dysplasia |
|
Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, Aplasia/Hypo... |
ORPHA:1827 |
Carey-Fineman-Ziter Syndrome |
|
Hypertensive crisis |
ORPHA:1358 |
Tuberous Sclerosis 2 |
|
Precocious puberty, Adenoma sebaceum, Attention deficit hyperactivity disorder, Hypothyroidism, S... |
OMIM:613254 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Alkaptonuria |
|
Hypertension, Myocardial infarction |
ORPHA:56 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Male infertility, Diabetes mellitus, Progressive neurologic deteriora... |
OMIM:219800 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, Precocious puberty, Cryptorchi... |
ORPHA:2322 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... |
OMIM:236680 |
Blau Syndrome |
|
Hypertension, Pericarditis |
OMIM:186580 |
Hardikar Syndrome |
|
Decreased serum insulin-like growth factor 1, Portal hypertension, Hematemesis, Hypertension, Bil... |
OMIM:301068 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... |
ORPHA:672 |
Senior-Boichis Syndrome |
|
Hypertension, Portal hypertension |
ORPHA:84081 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Impulsivity, Precocious puberty, Agitation, Attention defici... |
OMIM:619950 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
Peters Plus Syndrome |
|
Inguinal hernia, Hypospadias, Cryptorchidism, Congenital hypothyroidism, Hypoplasia of the uterus... |
ORPHA:709 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Rectovaginal fistula |
OMIM:608980 |
Familial Osteodysplasia, Anderson Type |
|
Hypertension |
ORPHA:2769 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Precocious puberty, Self-injurious behavior, Umbilical hernia, Micropenis, Failure... |
ORPHA:1934 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty |
OMIM:163200 |
Au-Kline Syndrome |
|
Cryptorchidism, Hypertension, Supernumerary nipple |
OMIM:616580 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Tetraplegia, R... |
ORPHA:79102 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Abdominal situs ambiguus, Immotile sperm |
OMIM:614874 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
African Trypanosomiasis |
|
Abnormality of the menstrual cycle, Abnormality of the endocrine system, Narcolepsy, Aggressive b... |
ORPHA:3385 |
Alport Syndrome |
|
Hypertension |
ORPHA:63 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Orchitis, Raynaud phenomenon, Cardiomyopathy, Hypertension, Ischemic stroke,... |
ORPHA:48435 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Cryptorchidism, Abnormal repetitive mannerisms, Hiatus hernia |
OMIM:616682 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Clubbing of fingers, Extrahepatic portal hypertension, Hepatic arteriov... |
ORPHA:2929 |
Cockayne Syndrome A |
|
Cryptorchidism, Hypertension, Thymic hormone decreased, Hypogonadism, Arrhythmia |
OMIM:216400 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Hypertension, Mitral regurgitation |
OMIM:611962 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypertension, Myocardial infarction |
ORPHA:90038 |
Marshall-Smith Syndrome |
|
Bilateral cryptorchidism, Cryptorchidism, Premature ventricular contraction, Hypertension, Pulmon... |
OMIM:602535 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Hyperactivity, Small scrotum, Hypospadias, Septate vagina, Aggressive behavior, Pr... |
OMIM:270400 |
Adams-Oliver Syndrome 1 |
|
Supernumerary nipple, Hypertension, Pulmonic stenosis, Pulmonary arterial hypertension, Aortic va... |
OMIM:100300 |
Legius Syndrome |
|
Hyperactivity, Ovarian neoplasm, Multiple lipomas, Xanthelasma, Male urethral meatus stenosis, At... |
ORPHA:137605 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryp... |
OMIM:227650 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Cryptorchidism, Abnormality of the Leydig cells, Camptodactyly, Testicular atrophy |
ORPHA:3063 |
Neurofibromatosis Type 1 |
|
Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Hypertension, Pheochromo... |
ORPHA:636 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Ovarian cyst, Hypertension |
OMIM:311200 |
Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Breast aplasia, Congestive heart failure |
OMIM:181270 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hypertension |
OMIM:617913 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Clubbing, Polysplenia, Abnormal sperm motility |
ORPHA:244 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Precocious puberty, Renovascular hypertension, Glomus jugular tumor, ... |
ORPHA:97685 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Small fo... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Small fo... |
ORPHA:363958 |
Tolchin-Le Caignec Syndrome |
|
Precocious puberty, Umbilical hernia, Attention deficit hyperactivity disorder |
OMIM:618971 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hypoplasia of the ut... |
OMIM:261540 |
Lipodystrophy, Familial Partial, Type 7 |
|
Type I diabetes mellitus, Hypertension, Orthostatic hypotension, Pulmonary arterial hypertension |
OMIM:606721 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Floating-Harbor Syndrome |
|
Restlessness, Hypospadias, Small for gestational age, Impulsivity, Aggressive behavior, Precociou... |
ORPHA:2044 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Cockayne Syndrome |
|
Diabetes mellitus, Cryptorchidism, Retinal hemorrhage, Absence of pubertal development, Hypertens... |
ORPHA:191 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Obesity |
ORPHA:369837 |
Orofaciodigital Syndrome Type 1 |
|
Pancreatic cysts, Hypertension |
ORPHA:2750 |
Acute Transverse Myelitis |
|
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage |
ORPHA:139417 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Charge Syndrome |
|
Hypoplasia of the ulna, Hypogonadotropic hypogonadism, Down-sloping shoulders, Micrognathia, Abse... |
OMIM:214800 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Pancreatic cysts, Hypertension |
OMIM:266920 |
Cockayne Syndrome B |
|
Cryptorchidism, Arrhythmia, Hypertension |
OMIM:133540 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Brachydactyly, Broad toe, Rhizomelia, Short humerus, Malformation of the hepatic du... |
OMIM:218330 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Aicardi Syndrome |
|
Precocious puberty, Multiple lipomas, Delayed puberty, Hiatus hernia |
ORPHA:50 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Immunodeficiency 87 And Autoimmunity |
|
Hypertension, Third degree atrioventricular block, Dilated cardiomyopathy, Pulmonary arterial hyp... |
OMIM:619573 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Portal hypertension, Biliary hyperplasia, Pancreatic cysts, Hyperten... |
ORPHA:731 |
Kinsship Syndrome |
|
Pes planus, Spastic tetraparesis, Micrognathia, Coxa valga, Hip dislocation, Bruxism, Fibular hyp... |
OMIM:619297 |
Arima Syndrome |
|
Hypertension |
OMIM:243910 |
Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Hypertension |
ORPHA:536 |
Myhre Syndrome |
|
Cryptorchidism, Aortic valve stenosis, Hypertension |
OMIM:139210 |
Pmm2-Cdg |
|
Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating g... |
ORPHA:79318 |
Cranioectodermal Dysplasia 2 |
|
Hypertension, Bile duct proliferation |
OMIM:613610 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Tremor, Splenomegaly, Lymphadenopathy, Hypocalcemia, Abno... |
ORPHA:667 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Hypospadias |
OMIM:615877 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormality of the anter... |
ORPHA:438213 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric... |
ORPHA:391665 |
Blau Syndrome |
|
Pericarditis, Large vessel vasculitis, Hypertension, Pulmonary arterial hypertension, Abnormal sa... |
ORPHA:90340 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Cardiomyopathy, Arrhythmia, Hypertension, Heart murmur |
ORPHA:217085 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Aplasia of the uterus... |
OMIM:194190 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... |
OMIM:620185 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Cardiomyopathy, Arrhythmia, Hypertension, Heart murmur |
ORPHA:217093 |
Generalized Arterial Calcification Of Infancy |
|
Transient ischemic attack, Adrenal calcification, Retinal hemorrhage, Hypertension, Weak pulse, L... |
ORPHA:51608 |
Mucopolysaccharidosis Type 2 |
|
Cardiomyopathy, Arrhythmia, Hypertension |
ORPHA:580 |
Aicardi Syndrome |
|
Precocious puberty, Lipoma, Hiatus hernia |
OMIM:304050 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Gastrointestinal hemorrhage, Hyperthyroidism, Cryptorchidism, Hypoplasia of t... |
ORPHA:567 |
Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Mi... |
ORPHA:2753 |
Doors Syndrome |
|
Adrenal hyperplasia, Congenital hypothyroidism |
ORPHA:79500 |
Renal Dysplasia |
|
Hypertension |
ORPHA:93108 |
Williams Syndrome |
|
Hypogonadotropic hypogonadism, Sudden cardiac death, Myocardial infarction, Precocious puberty, C... |
ORPHA:904 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature... |
ORPHA:125 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Absent frontal sinuses, Male infertility |
OMIM:244400 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... |
OMIM:304120 |
Yunis-Varon Syndrome |
|
Cryptorchidism, Renovascular hypertension, Hypertension, Cardiomyopathy, Pulmonary arterial hyper... |
ORPHA:3472 |
Williams-Beuren Syndrome |
|
Diabetes mellitus, Portal hypertension, Early onset of sexual maturation, Hypertension, Mitral re... |
OMIM:194050 |
Keutel Syndrome |
|
Hypertension, Pulmonic stenosis |
OMIM:245150 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hypertension, Budd-Chiari syndrome, Myocardial infarction, Pulmonary embolism |
ORPHA:447 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Hypertension |
OMIM:300896 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Abdominal situs inversus |
OMIM:619607 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cryptorchidism, Hypertension |
OMIM:210710 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy |
OMIM:220111 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Cryptorchidism, Hypertension, Corneal neovascularization |
OMIM:308205 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Clubbing of fingers, Cirrh... |
OMIM:219700 |
Sponastrime Dysplasia |
|
Precocious puberty, Hypothyroidism, Hypospadias, Small for gestational age |
ORPHA:93357 |
Vascular Ehlers-Danlos Syndrome |
|
Telangiectasia of the skin, Transient ischemic attack, Cryptorchidism, Renovascular hypertension,... |
ORPHA:286 |