banner
Genes Phenotypes Help, News, Blog

Gene: Nos1 MGI:97360

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
nitric oxide synthase 1, neuronal
Synonyms:
nNOS,  Nos-1,  bNOS,  NO,  2310005C01Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nos1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Nos1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Idiopathic Achalasia
Gastroesophageal reflux, Weight loss, Dysphagia ORPHA:930

The table below shows human diseases predicted to be associated to Nos1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar... OMIM:115210
Marden-Walker Syndrome
High palate, Pyloric stenosis, Hypospadias, Cryptorchidism, Cleft palate, High, narrow palate, Mi... OMIM:248700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... OMIM:607450
Sepsis In Premature Infants
Hypotension, Vomiting, Enterocolitis, Diarrhea, Functional abnormality of the gastrointestinal tr... ORPHA:90051
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Hepatomegaly, Irritability, Tachycardia, Metabolic acidosis OMIM:229700
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Hemorrhagic Fever-Renal Syndrome
Hypotension, Diarrhea, Acute tubulointerstitial nephritis, Shock, Pleural effusion, Glomeruloneph... ORPHA:340
Deafness-Infertility Syndrome
Male infertility, Azoospermia