Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619834 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:612310 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... |
OMIM:618086 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
Premature Ovarian Failure 10 |
|
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... |
OMIM:612885 |
Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, High palate, Hypothalamic gonad... |
OMIM:308750 |
Premature Ovarian Failure 17 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm... |
OMIM:619146 |
46,Xy Sex Reversal 11 |
|
Primary amenorrhea, Urogenital sinus anomaly, Abnormal internal genitalia, Aplasia of the uterus,... |
OMIM:273250 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... |
OMIM:612964 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... |
OMIM:615724 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:616030 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, High palate, Decreased testicul... |
OMIM:308700 |
Coproporphyria, Hereditary |
|
Increased urinary porphobilinogen, Vomiting, Diarrhea, Abdominal pain, Increased fecal coproporph... |
OMIM:121300 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... |
OMIM:300511 |
Delayed Puberty, Self-Limited |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... |
OMIM:619613 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... |
OMIM:617690 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
Perrault Syndrome 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:614129 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:619938 |
Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Vomiting, Diarrhea, Hypovolemia, Malabsorption, Glycosuria, Hyper... |
ORPHA:47159 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Myopathy, Skeletal muscle atrophy, Rhabdomyolysis, Increased muscle fatiguability |
OMIM:615511 |
Ovarian Dysgenesis 8 |
|
Hypoplastic labia majora, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Prim... |
OMIM:618187 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Barrett esopha... |
OMIM:619350 |
Premature Ovarian Failure 14 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:618014 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... |
OMIM:619755 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
46,Xy Sex Reversal 1 |
|
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... |
OMIM:400044 |
Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... |
OMIM:614324 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Androgen Insensitivity Syndrome |
|
Labial hypoplasia, Elevated circulating luteinizing hormone level, Blind vagina, Primary amenorrh... |
OMIM:300068 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp... |
ORPHA:99429 |
Variegate Porphyria |
|
Vomiting, Porphyrinuria, Increased fecal protoporphyrin concentration, Abdominal pain, Constipati... |
OMIM:176200 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Hypoesthesia, Dysphagia, Impaired distal proprioception, Scapular winging, Gait ataxia, Increased... |
OMIM:607459 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Inflammatory ... |
OMIM:123320 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... |
ORPHA:399805 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona... |
OMIM:240950 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Mungan Syndrome |
|
Vesicoureteral reflux, Tricuspid regurgitation, Hypoperistalsis, Megaduodenum, Pulmonic stenosis,... |
OMIM:611376 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Gait ataxia, Increased variability in muscle fiber diameter, Memory impairment, Cognitive impairm... |
ORPHA:70595 |
Ovarian Dysgenesis 4 |
|
Elevated circulating follicle stimulating hormone level, Decreased body weight, Decreased serum e... |
OMIM:616185 |
Precocious Puberty, Central, 1 |
|
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... |
OMIM:176400 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... |
ORPHA:90796 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Proximal tubulopathy, Vomiting, Hyperuricemia, Glycosuria, Abdominal pai... |
OMIM:229600 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Fatty replacement of skeletal muscle, Elevated circulating creatine... |
OMIM:255100 |
Adenosine Monophosphate Deaminase Deficiency |
|
Limb muscle weakness, Exercise-induced muscle fatigue |
ORPHA:45 |
Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis |
ORPHA:3416 |
Al Amyloidosis |
|
Hypertrophic cardiomyopathy, Peripheral edema, Hepatomegaly, Dysphagia, Abnormal P wave, Abnormal... |
ORPHA:85443 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
Systemic Sclerosis |
|
Flexion contracture, Abnormal large intestine morphology, Abnormal stomach morphology, Elevated c... |
ORPHA:90291 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Diarrhea, Hypoesthesia, Early satiety, Dysphagia, Distal amyotrophy, Intermi... |
OMIM:603041 |
X-Linked Intellectual Disability, Van Esch Type |
|
Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, I... |
ORPHA:163976 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Ventricular arrhythmia, Elevated circulating creatine kinase concentration, Facial diplegia, Palp... |
ORPHA:254892 |
Premature Ovarian Failure 16 |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... |
OMIM:618723 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Isochromosomy Yp |
|
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... |
ORPHA:98797 |
Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Decreased fertility, Absence of secondary sex characteristics, Increased circulating gonadotropin... |
ORPHA:2410 |
Young-Onset Parkinson Disease |
|
Cognitive impairment, Diarrhea, Impaired social interactions, Frontal lobe dementia, Apathy, Agit... |
ORPHA:2828 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... |
OMIM:618096 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Erythrocyte Lactate Transporter Defect |
|
Exercise-induced muscle fatigue |
OMIM:245340 |
Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
ORPHA:243343 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou... |
ORPHA:261529 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... |
OMIM:228300 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, High palate, Small for gestational age, Delayed speech and language developme... |
ORPHA:96184 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Diabetic ketoacidosis, Hypertension, Decreased serum leptin, Decreased... |
OMIM:615238 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Aggressive behavior, Seizure, Overfriendliness |
OMIM:618010 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... |
ORPHA:3337 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... |
ORPHA:168563 |
Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Abd... |
ORPHA:1876 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... |
ORPHA:398079 |
Isochromosomy Yq |
|
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... |
ORPHA:98798 |
X-Linked Intellectual Disability, Cilliers Type |
|
Shyness, Absence of secondary sex characteristics, Decreased testicular size, Decreased serum tes... |
ORPHA:163971 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Polyhydramnios, Vomiting, Hydronephrosis, Diarrhea, Urinary retention, Meg... |
OMIM:155310 |
Acute Intermittent Porphyria |
|
Somatic sensory dysfunction, Diarrhea, Pseudobulbar paralysis, Hepatocellular carcinoma, Hyponatr... |
ORPHA:79276 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Porphyria, Acute Intermittent |
|
Urinary incontinence, Vomiting, Paresthesia, Diarrhea, Urinary retention, Dysuria, Paralytic ileu... |
OMIM:176000 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones |
ORPHA:564003 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Secondary amenorrhea, Premature ovarian insufficiency, Bicornuate uter... |
OMIM:615300 |
Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal bone ossification, Increased bone mineral density, Sclerosis of foot b... |
ORPHA:166119 |
Ethylene Glycol Poisoning |
|
Hypotension, Cerebral edema, Shock, Gastritis, Alcoholism, Metabolic acidosis, Facial palsy, Decr... |
ORPHA:31826 |
Melorheostosis |
|
Arthritis, Increased bone mineral density, Joint stiffness, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ... |
ORPHA:91348 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Trimethylaminuria |
|
Trimethylaminuria, Hypertension, Tachycardia, Depression, Splenomegaly |
OMIM:602079 |
Spermatogenic Failure 57 |
|
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Non-obstructive a... |
OMIM:619528 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Gastroesophageal reflux, Gastroparesis, Increased serum lactate, Elevated circulating creatine ki... |
OMIM:610131 |
Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Cryptorchidism... |
OMIM:619761 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropi... |
ORPHA:231720 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... |
OMIM:136300 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... |
OMIM:614841 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... |
OMIM:618841 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Hypogonadism, Decreased testicular size, Small for gestational age, Increased circulating gonadot... |
OMIM:300869 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
Proximal Spinal Muscular Atrophy |
|
Knee flexion contracture, Gastroesophageal reflux, Flexion contracture, Metabolic acidosis, Poor ... |
ORPHA:70 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Hypotension, Vomiting, Diarrhea, Rhabdomyolysis, Cerebral ischemia, Acut... |
ORPHA:449285 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
Dimethylglycine Dehydrogenase Deficiency |
|
Increased muscle fatiguability |
OMIM:605850 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Asthma, Pyloric stenosis, Camptodactyly, Arthrogryposis multiplex cong... |
OMIM:614262 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co... |
OMIM:250790 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Spermatogenic Failure 50 |
|
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest |
OMIM:619145 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Failure to thrive, Pyloric stenosis |
OMIM:179010 |
Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea |
OMIM:616946 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Gait ataxia, Increased variability in muscle fiber diameter, Impaired distal vibration sensation,... |
OMIM:157640 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Joint stiffness, Knee osteoa... |
ORPHA:566943 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Pyloric stenosis, Abnormal intestine morphology |
ORPHA:2978 |
Atherosclerosis Susceptibility |
|
Myocardial infarction, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Weakness of facial musculature, Increased muscle fatiguability |
OMIM:616323 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Rhabdomyolysis, Acute kidney injury, Exercise-induced myoglobinuria, Glycogen accumulation in mus... |
ORPHA:368 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:289548 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... |
OMIM:613986 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... |
OMIM:300510 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
49,Xxxyy Syndrome |
|
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, Decreased tes... |
ORPHA:261534 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
3-Methylglutaconic aciduria, Hyperalaninemia, Hypertension, Ataxia, Lactic acidosis, Increased se... |
OMIM:614052 |
Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Porphyrinuria, Small intestinal dysmotility, Abdomi... |
ORPHA:79273 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures |
OMIM:166740 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Decreased adiponectin level, Hyperlipidemia, Insulin-resistant diabetes m... |
ORPHA:79085 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Serotonin Syndrome |
|
Hypotension, Hepatic failure, Diarrhea, Rhabdomyolysis, Acute kidney injury, Hypertension, Agitat... |
ORPHA:43116 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Left ventri... |
OMIM:619048 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... |
ORPHA:2235 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Insulin Autoimmune Syndrome |
|
Weight loss, Increased circulating antibody level, Nonketotic hypoglycemia, Insulin resistance, H... |
ORPHA:411593 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Cholera |
|
Hypotension, Vomiting, Abnormality of renal excretion, Diarrhea, Achlorhydria, Acute kidney injur... |
ORPHA:173 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Pyloric stenosis, Bilateral cryptorchidism, High palate |
ORPHA:314575 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Aminoaciduria, Aggressive behavior, Elevated maternal serum alpha-fetopr... |
OMIM:309000 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Abdominal pain, Abdominal distention, Malnutrition, Spontaneous esophageal perforation, Gastropar... |
OMIM:277320 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... |
ORPHA:398069 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Gastroesophageal reflux, Elevated circulating alanine aminotransferase concentration, Left ventri... |
OMIM:616974 |
Meningioma |
|
Enlarged pituitary gland, Impotence, Decreased circulating cortisol level, Secondary growth hormo... |
ORPHA:2495 |
Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci... |
ORPHA:91349 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Obesity Due To Congenital Leptin Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... |
ORPHA:66628 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis |
OMIM:607634 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Delayed speech and language development, Myoclonus, Hypertriglyceridemia, Seizure |
OMIM:615924 |
Hsd10 Mitochondrial Disease |
|
Aggressive behavior, Delayed speech and language development, Choreoathetosis, Elevated circulati... |
OMIM:300438 |
Central Precocious Puberty |
|
Isosexual precocious puberty, Premature thelarche, Obesity, Increased circulating gonadotropin le... |
ORPHA:759 |
Porphyria Variegata |
|
Somatic sensory dysfunction, Increased urinary porphobilinogen, Porphyrinuria, Abnormal circulati... |
ORPHA:79473 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Type II diabetes mellitus, Hypertension, Myocardial infarction, Increased L... |
OMIM:610947 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Aarskog-Scott Syndrome |
|
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... |
OMIM:305400 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... |
OMIM:613980 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Acidosis... |
OMIM:137950 |
Lactase Deficiency, Congenital |
|
Diarrhea, Dehydration, Lactose intolerance, Decreased small intestinal mucosa lactase level, Meta... |
OMIM:223000 |
Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... |
ORPHA:243 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Decreased adiponectin level, Hyperlipidemia, Insulin-resistant diabetes m... |
ORPHA:435651 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Congestive heart failure, Hypertension, Myocardial infarction, Increas... |
OMIM:615703 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
3-Methylglutaconic Aciduria, Type I |
|
Urinary incontinence, 3-Methylglutaconic aciduria, Cognitive impairment, Delayed speech and langu... |
OMIM:250950 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... |
ORPHA:179494 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... |
OMIM:614916 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Rhabdomyolysis, Exercise-induced muscle fatigue |
ORPHA:2364 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased testicular size, Type I diabetes mellitus, Breast aplasia, Eunuchoid habitus, Elevated ... |
ORPHA:3044 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... |
ORPHA:226307 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Refrac... |
OMIM:231095 |
Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tube feeding, Cognitive impairment, Motor deterioration, Emotional lability, Dementia, Depression... |
ORPHA:79264 |
Neuroleptic Malignant Syndrome |
|
Hypotension, Elevated circulating creatine kinase concentration, Dysphagia, Dehydration, Hyponatr... |
ORPHA:94093 |
Lipe-Related Familial Partial Lipodystrophy |
|
Elevated circulating creatine kinase concentration, Decreased serum leptin, Decreased adiponectin... |
ORPHA:435660 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Chorea, Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Congestive heart failure, A... |
ORPHA:70472 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Limb hypertonia, Choreoathetosis, Lacticaciduria, Increased serum lactate, Elevated lactate:pyruv... |
OMIM:618247 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Polyhydramnios, High palate, Cognitive impairment, Hyperglycinemia, Lactic acidosis, Elevated lac... |
OMIM:615330 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Subvalvular aortic sten... |
OMIM:619461 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
Frasier Syndrome |
|
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... |
ORPHA:347 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Paresthesia, Acidosis, Impaired distal tactile sensation, Myocardia... |
ORPHA:90064 |
Myopathy, Centronuclear, X-Linked |
|
Flexion contracture, High palate, Diaphragmatic eventration, Pyloric stenosis, Elevated hepatic t... |
OMIM:310400 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Failure to thrive, Pyloric stenosis |
OMIM:226700 |
Acute Transverse Myelitis |
|
Subarachnoid hemorrhage, Somatic sensory dysfunction, Urinary incontinence, Paresthesia, Urinary ... |
ORPHA:139417 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Paroxysmal bursts of laughter, Abnormal concentration of acylcarnitine in the urine... |
ORPHA:391428 |
Sulfite Oxidase Deficiency, Isolated |
|
Choreoathetosis, Agitation, Ataxia, Episodic vomiting, Absent speech, Increased urinary sulfite, ... |
OMIM:272300 |
Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... |
OMIM:245480 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, Clavicular sclerosis, ... |
OMIM:144750 |
Gitelman Syndrome |
|
Hypotension, Hypokalemic alkalosis, Palpitations, Renal magnesium wasting, Polydipsia, Abdominal ... |
OMIM:263800 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Hypertrophic cardiomyopathy,... |
OMIM:612124 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Vomiting, Ataxia, Episodic vomiting, Lactic acidosis, Increased serum lactate, Hepatomegaly, Dysp... |
OMIM:618226 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Autosomal Dominant Centronuclear Myopathy |
|
Urinary incontinence, Proximal muscle weakness in lower limbs, Centrally nucleated skeletal muscl... |
ORPHA:169189 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Beta-Ketothiolase Deficiency |
|
Oral aversion, Hypotension, Vomiting, Hyperuricemia, Diarrhea, Ketonuria, Apathy, Acidosis, Hyper... |
ORPHA:134 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... |
OMIM:601144 |
Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, High palate, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233400 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Glycosuria, Abdominal distention, Hypertonic dehydration, Hyperactive bowel sounds... |
OMIM:606824 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Exercise-induced mus... |
ORPHA:681 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Elevated circulating acylcarnitine concentration, Delayed speech and language dev... |
ORPHA:26792 |
Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Generalized os... |
ORPHA:210110 |
Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Cardiomegaly, Persistent fetal circulat... |
ORPHA:363705 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os... |
OMIM:166600 |
Atrial Fibrillation, Familial, 15 |
|
Sudden cardiac death, Atrial flutter, Supraventricular tachycardia, Atrial fibrillation |
OMIM:615770 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Gait ataxia, Torsade de pointes, Elevated circulating acylcarnitine concentration, Rhabdomyolysis... |
OMIM:616878 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis |
OMIM:122860 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... |
ORPHA:52901 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Lo... |
OMIM:616924 |
Ulnar-Mammary Syndrome |
|
Decreased fertility, Ectopic anus, Pyloric stenosis, Hypoplasia of penis, Breast aplasia, Anal at... |
ORPHA:3138 |
Immunodeficiency, Common Variable, 10 |
|
Decreased response to growth hormone stimulation test, Abnormal response to ACTH stimulation test... |
OMIM:615577 |
Eiken Syndrome |
|
Thin bony cortex, Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip mo... |
ORPHA:79106 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Urinary bla... |
ORPHA:52430 |
Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Primary amenorrhe... |
OMIM:609441 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
Hsd10 Disease, Neonatal Type |
|
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Metabolic acid... |
ORPHA:391457 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Zellweger Syndrome |
|
Respiratory insufficiency, Hepatic failure, Multicystic kidney dysplasia, High palate, Ventricula... |
ORPHA:912 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy, Increased muscle fatiguability |
OMIM:613077 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Pure Mitochondrial Myopathy |
|
Rhabdomyolysis, Exercise-induced muscle fatigue, Pelvic girdle muscle weakness, Quadriceps muscle... |
ORPHA:254854 |
Kleefstra Syndrome |
|
Vesicoureteral reflux, Gastroesophageal reflux, Aggressive behavior, Self-injurious behavior, Ven... |
ORPHA:261494 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
Periventricular Nodular Heterotopia |
|
Gastroesophageal reflux, Periventricular heterotopia, Pyloric stenosis, Aortic regurgitation, Abn... |
ORPHA:98892 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Recurrent fractures, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, O... |
OMIM:611490 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Increased serum lactate, Alaninuria, Hepatomegaly, Metabolic acidosis |
OMIM:615158 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Pyloric stenosis, Absent speech, Nephrolithiasis |
OMIM:617219 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Urinary incontinence, Truncal ataxia, Choreoathetosis, Absent speech, Bowel incontin... |
OMIM:618877 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Mitral ... |
OMIM:615373 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Eunuchoid habitus, Delayed... |
ORPHA:432 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Nephrotic Syndrome, Type 1 |
|
Gastroesophageal reflux, Hypothyroidism, Pyloric stenosis, Small for gestational age |
OMIM:256300 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Central Diabetes Insipidus |
|
Diarrhea, Hyponatremia, Nausea and vomiting, Nocturia, Anorexia, Depression, Anxiety, Dehydration... |
ORPHA:178029 |
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 |
Diarrhea 12, With Microvillus Atrophy |
|
Vomiting, Villous atrophy, Dependency on parenteral nutrition, Abdominal distention, Microvillus ... |
OMIM:619445 |
49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, Decreased testicular size, Externa... |
ORPHA:99330 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Projectile vom... |
OMIM:615237 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Limb-girdle muscular dystrophy, Myopathy, Exercise-induced muscle fatigue |
ORPHA:369847 |
Atrial Fibrillation, Familial, 4 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... |
OMIM:611493 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
Craniofacial Dyssynostosis With Short Stature |
|
Pyloric stenosis, Hypospadias, Cryptorchidism |
OMIM:218350 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... |
ORPHA:95699 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Vomiting, Diarrhea, Metabolic ketoacidosis, Glycosuria, Agitation, Abnormal circulating fatty-aci... |
ORPHA:263455 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Gastroesophageal reflux, Multicystic kidney dysplasia, Impaired social interactions, Delayed spee... |
ORPHA:261197 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:613327 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Gait ataxia, Aminoaciduria, Proximal tubulopathy, Vomiting, Diarrhea, Severe lactic acidosis, Lac... |
OMIM:612075 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Fg Syndrome Type 1 |
|
Gastroesophageal reflux, High palate, Abnormal large intestine morphology, Delayed speech and lan... |
ORPHA:93932 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Tetanus |
|
Elevated urinary norepinephrine, Abdominal pain, Elevated urinary epinephrine, Hypertension, Elev... |
ORPHA:3299 |
Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Respiratory insufficiency, Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy... |
OMIM:613156 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... |
ORPHA:488191 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Neuroendocrine neopla... |
ORPHA:100083 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Hypertension |
ORPHA:71529 |
Paramyotonia Congenita Of Von Eulenburg |
|
Myotonia of the face, Myotonia, Myotonia of the upper limb, Cold-sensitive myotonia, Percussion m... |
ORPHA:684 |
Trisomy 18P |
|
Pyloric stenosis, Bilateral cryptorchidism, High, narrow palate |
ORPHA:1715 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Cardiomyopathy, Hyperalaninemia, Nonimmune hydrops fetalis, Lact... |
OMIM:619003 |
Cystinosis |
|
Aminoaciduria, Vomiting, Renal insufficiency, Malabsorption, Hypophosphatemia, Hypokalemia, Renal... |
ORPHA:213 |
47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Impaired social interactions, Delayed speech ... |
ORPHA:8 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Paucity of anterior horn motor neurons, Facial diplegia, Skeletal muscle atrophy, Re... |
OMIM:611890 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Cocaine Intoxication |
|
Hypotension, Bloody diarrhea, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmi... |
ORPHA:90068 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Vomiting, Hyperuricemia, Diarrhea, Hyperalaninemia, Intermittent lactic acidemia, Reye syndrome-l... |
ORPHA:348 |
Trichothiodystrophy 3, Photosensitive |
|
Pyloric stenosis, Bilateral cryptorchidism, Meckel diverticulum, Failure to thrive |
OMIM:616395 |
Aa Amyloidosis |
|
Hypotension, Vomiting, Nephrotic syndrome, Malabsorption, Enlarged kidney, Abdominal pain, Acute ... |
ORPHA:85445 |
Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Streak ovary,... |
ORPHA:572333 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab... |
OMIM:600785 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Increased serum lactate, Hypertrophic cardiomyopathy, Myopathy, Irritability... |
OMIM:618237 |
Hyperostosis Frontalis Interna |
|
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration, Obesity |
OMIM:144800 |
Hsd10 Disease |
|
Nasogastric tube feeding in infancy, Elevated urinary 3-hydroxybutyric acid, Delayed speech and l... |
ORPHA:391417 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Gastroesophageal reflux, Vomiting, Diarrhea, Feeding difficulties in infancy, Hypertension, Emoti... |
OMIM:223900 |
Schnitzler Syndrome |
|
Anemia, Increased bone mineral density, Arthritis, Leukocytosis, Splenomegaly |
ORPHA:37748 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Small for gestational age, Pyloric stenosis, Hypoplastic labia majora, Anal atresia, Clitoral hyp... |
OMIM:618419 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Micropenis, Crypt... |
OMIM:202150 |
Senior-Boichis Syndrome |
|
Suicidal ideation, Abnormal renal insterstitial morphology, Hepatosplenomegaly, Reduced renal cor... |
ORPHA:84081 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hyperalaninemia, Hyperglycinemia, Lacticaciduria, Increased serum lactate, Anorexi... |
OMIM:619386 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Rhabdomyolysis, Hyperkalemia, Elevated circulating creatine kinas... |
OMIM:145600 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Lactic acidosis, Increased serum lactate, Oligohydramnios, Hypospadias, Hyperammonemia, Progressi... |
OMIM:618253 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Delayed speech and language development, Pyloric stenosis, Absent speech, Facial hypotonia, Conge... |
OMIM:616355 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... |
ORPHA:75566 |
Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Polycystic ovaries, Ambiguous genitalia, Decreased testicular size |
ORPHA:393 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Developmental And Epileptic Encephalopathy 109 |
|
Delayed speech and language development, Left ventricular hypertrophy, Dyspnea |
OMIM:620145 |
Xp21 Deletion Syndrome |
|
Decreased muscle mass, Calf muscle hypertrophy, Recurrent otitis media, Myopathy, Increased muscl... |
ORPHA:261476 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Gastroesophageal reflux, Periportal fibrosis, Reduced left ventricular ejec... |
OMIM:201475 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Postprandial hyperlactemia, Intermittent lactic acidemia, Abnormality of the kidney, Hepatocellul... |
ORPHA:369 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Seizure, Delayed speech and language development, Myoclonus, Status epilepticus... |
ORPHA:363400 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Exertional dyspnea, Asthma, Elevate... |
ORPHA:563 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior, Vomiting, Proximal renal tubular acidosis, Lactic acidosis, I... |
OMIM:615824 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Increased C-peptide level, Decreased circulating free fatty acid level, Syncope, Agitation, Hyper... |
ORPHA:276556 |
Prader-Willi Syndrome |
|
Nasogastric tube feeding in infancy, Vomiting, Poor suck, Delayed speech and language development... |
ORPHA:739 |
Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact... |
OMIM:102200 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio |
OMIM:125853 |
Esophageal Atresia |
|
Cyanosis, Dysphagia, Cleft palate, Ventricular septal defect, Respiratory distress, Chronic pulmo... |
ORPHA:1199 |
Acquired Methemoglobinemia |
|
Vomiting, Anxiety, Abdominal pain, Syncope, Acidosis, Palpitations, Arrhythmia, Tachycardia |
ORPHA:464453 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge... |
OMIM:614096 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Splenomegaly, Pyloric stenosis |
ORPHA:664 |
Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis |
OMIM:188025 |
Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Lower limb muscle weakness, Hypoesthesia, Increased serum lactate, Elevated lactate:pyruvate rati... |
OMIM:619737 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hyperisoleucinemia, Hepatic failure, Vomiting, Abnormal cardiac ventricular function, Increased u... |
ORPHA:2394 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Left ventricular hypertrophy, Oligohydramnios, Increased serum lactate, Eleva... |
OMIM:617713 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Congestive heart failure, Episodic ... |
OMIM:540000 |
Malonyl-Coa Decarboxylase Deficiency |
|
Vomiting, Diarrhea, Chronic constipation, Abdominal pain, Elevated urine suberic acid level, Dila... |
OMIM:248360 |
Microvillus Inclusion Disease |
|
Hypovolemia, Villous atrophy, Diarrhea, Abnormality of small intestinal villus morphology, Abnorm... |
ORPHA:2290 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Ventricular arrhythmia, Supraventricular arrhythmia, Congestive heart failure, Decreased serum le... |
ORPHA:280365 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Rhabdomyolysis, Cardiac arrest, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:212138 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Ataxia, Lactic acidosis, Hypertrophic cardiomyopathy, Ketoacidosis, Increased serum pyruvate, Hep... |
OMIM:246900 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Ve... |
ORPHA:860 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Failure to thrive, Increased muscle fatiguability |
OMIM:618250 |
Galactosemia I |
|
Aminoaciduria, Vomiting, Increased level of galactonate in red blood cells, Diarrhea, Hypergalact... |
OMIM:230400 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Patent ductus arteriosus, Gastroesophageal reflux, Decreased body weight, Diarrhea, Abnormal card... |
ORPHA:589821 |
Pandas |
|
Chorea, Abnormal fear/anxiety-related behavior, Enuresis, Separation insecurity, Emotional labili... |
ORPHA:66624 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Gait ataxia, Lactic acidosis, Dysphagia |
OMIM:608782 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Combined Malonic And Methylmalonic Acidemia |
|
Vomiting, Intermittent diarrhea, Methylmalonic acidemia, Delayed speech and language development,... |
ORPHA:289504 |
3P25.3 Microdeletion Syndrome |
|
Knee flexion contracture, Ventricular septal defect, Delayed speech and language development, Pyl... |
ORPHA:435638 |
Corticosteroid-Binding Globulin Deficiency |
|
Increased muscle fatiguability |
OMIM:611489 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Reye syndrome-like ... |
ORPHA:26791 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Increased C-peptide level, Decreased circulating free fatty acid level, Syncope, Agitation, Hyper... |
ORPHA:276575 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating creatine kinase concentration, Diabetes mellitus, Hypertriglyceridemia, Card... |
OMIM:610717 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Urinary incontinence, Anxiety, Ataxia, Dysmetria, Depression, Dysphagia, Men... |
OMIM:618093 |
Early-Onset Schizophrenia |
|
Suicidal ideation, Lack of peer relationships, Low self esteem, No social interaction, Shyness, A... |
ORPHA:96369 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Small bowel diverticula, Hypoproteinemia, Jejunoileal ulceration, Tachycardia |
OMIM:221400 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Vomiting, Increased circulating free fatty acid level, Pericardial effusion, Exercise-induced rha... |
ORPHA:26793 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Flexion contracture, Interphalangeal thumb joint contracture, Aganglionic megacolon, Hypertension... |
OMIM:613870 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Systolic heart murmur, Crackles, Displacement of the papillary muscles, Hepatomegaly, A... |
ORPHA:1329 |
Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... |
OMIM:611556 |
Chops Syndrome |
|
Gastroesophageal reflux, Vesicoureteral reflux, Constipation, Horseshoe kidney, High, narrow pala... |
OMIM:616368 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Splenomegaly, Bronchiectasis, Hepatocellular carcinoma, Chronic pulmonary obstruction,... |
OMIM:613490 |
Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Ectopic anus, Secondary amenorrhea, Polycystic ovaries, Hypogonadotropic hyp... |
ORPHA:1643 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Vomiting, Diarrhea, Reduced left ventricular ejection fraction, Poor appetite, Acute... |
ORPHA:542323 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastroesophageal reflux, Vomiting, Paresthesia, Diarrhea, Decreased muscle mass, Small intestinal... |
ORPHA:298 |
Chronic Granulomatous Disease |
|
Liver abscess, Malabsorption, Pyloric stenosis, Chronic pulmonary obstruction, Tracheoesophageal ... |
ORPHA:379 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Le... |
ORPHA:444013 |
Scorpion Envenomation |
|
Diarrhea, Cardiogenic shock, Increased circulating creatine kinase MB isoform, Ketonuria, Acute k... |
ORPHA:466677 |
Lujo Hemorrhagic Fever |
|
Hypotension, Cerebral edema, Diarrhea, Shock, Oliguria, Dysphagia, Microscopic hematuria, Metabol... |
ORPHA:319213 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Pedal edema, Self-injurious behavior, Feeding difficulties in infancy, Bulimia, Impaired temperat... |
ORPHA:98793 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... |
OMIM:300048 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Pedal edema, Self-injurious behavior, Feeding difficulties in infancy, Bulimia, Impaired temperat... |
ORPHA:177904 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Exertional dyspnea, Reduced left ventricular ej... |
OMIM:608751 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Vomiting, Hyperuricemia, Decreased plasma carnitine, Apathy, Increased level of 3-hydroxy-3-methy... |
OMIM:246450 |
Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu... |
ORPHA:95619 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Left ventricular hypertrophy, Hypertension, Respiratory distress, Abnormal r... |
OMIM:616733 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Lactic acidosis, Increased serum lactat... |
OMIM:618234 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Pedal edema, Self-injurious behavior, Feeding difficulties in infancy, Bulimia, Impaired temperat... |
ORPHA:177901 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria, Generalized amyotrophy, EMG: myopathic abnormalities, Facial diplegia, Ragged-red ... |
OMIM:609560 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure, Mandi... |
ORPHA:83451 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Absent muscle dystrophin expression, Calf muscle hypertrophy, Elbow flexion contracture, Abnormal... |
ORPHA:206546 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Pedal edema, Self-injurious behavior, Feeding difficulties in infancy, Bulimia, Impaired temperat... |
ORPHA:98754 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Methylmalonic acidemia, Feeding difficulties in infancy, Irritability, Lactic acid... |
OMIM:612073 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Patent foramen ovale, Aggressive behavior, High palate, Ventricular septal defect, Delayed speech... |
ORPHA:457279 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Gait ataxia, Truncal ataxia, Delayed speech and language development, Increased urine alpha-ketog... |
OMIM:614458 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Aggressive behavior, Impaired social interactions, Delayed speech and language ... |
ORPHA:329249 |
Arterial Tortuosity Syndrome |
|
Gastroesophageal reflux, Respiratory failure, Cardiac arrest, Pyloric stenosis, Respiratory distr... |
ORPHA:3342 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Syncope, Agitation, Hypertrophic cardiomyopathy, Polyphagia, Palpitati... |
ORPHA:276580 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear/anxiety-related behavio... |
ORPHA:100924 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Lower limb muscle weakness, Hand muscle atrophy, Weakness of facial musculature, Abnormal lower m... |
OMIM:607641 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hyperlysinemia, Hyperlysinuria, Decreased plasma free carnitine, Choreoathetosis, Increased serum... |
OMIM:616034 |
Paget Disease Of Bone 3 |
|
Osteolysis, Patchy osteosclerosis, Fractures of the long bones |
OMIM:167250 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... |
OMIM:613694 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Increased total bilirubin, Alaninuria, Lactic acidosis, Increase... |
OMIM:616299 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis, Exercise-induced muscle fatigue |
ORPHA:713 |
Mgat2-Cdg |
|
Gastroesophageal reflux, Hydrops fetalis, Gastrostomy tube feeding in infancy, Reflex asystolic s... |
ORPHA:79329 |
Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Pyloric stenosis |
OMIM:133705 |
Avian Influenza |
|
Myelitis, Pneumothorax, Rhabdomyolysis, Productive cough, Acute kidney injury, Hepatitis, Hypoxem... |
ORPHA:454836 |
Necrobiosis Lipoidica |
|
Granuloma, Diabetes mellitus, Abnormality of neutrophil physiology, Telangiectasia of the skin |
ORPHA:542592 |
Mitochondrial Myopathy, Infantile, Transient |
|
Decreased plasma carnitine, Macroglossia, Lactic acidosis, Increased serum lactate, Elevated circ... |
OMIM:500009 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Increased C-peptide level, Decreased circulating free fatty acid level, Syncope, Agitation, Polyp... |
ORPHA:324575 |
Oxoglutarate Dehydrogenase Deficiency |
|
Gait ataxia, Generalized amyotrophy, Delayed speech and language development, Increased serum lac... |
OMIM:203740 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
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Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
Hyperinsulinism Due To Insr Deficiency |
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Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Cardiomyopathy, Familial Restrictive, 1 |
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Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar... |
OMIM:115210 |
Marden-Walker Syndrome |
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High palate, Pyloric stenosis, Hypospadias, Cryptorchidism, Cleft palate, High, narrow palate, Mi... |
OMIM:248700 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
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Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
Sepsis In Premature Infants |
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Hypotension, Vomiting, Enterocolitis, Diarrhea, Functional abnormality of the gastrointestinal tr... |
ORPHA:90051 |
Fructose-1,6-Bisphosphatase Deficiency |
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Increased urinary glycerol, Hepatomegaly, Irritability, Tachycardia, Metabolic acidosis |
OMIM:229700 |
Thyrotropin-Releasing Hormone Deficiency |
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Hypothyroidism, Hypothalamic hypothyroidism |
OMIM:275120 |
Hemorrhagic Fever-Renal Syndrome |
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Hypotension, Diarrhea, Acute tubulointerstitial nephritis, Shock, Pleural effusion, Glomeruloneph... |
ORPHA:340 |
Deafness-Infertility Syndrome |
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Male infertility, Azoospermia |