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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Premature Ovarian Failure 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612964
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, High palat... OMIM:308750
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, High palat... OMIM:308700
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Coproporphyria, Hereditary
Constipation, Anxiety, Splenomegaly, Increased urinary porphobilinogen, Hepatomegaly, Abdominal p... OMIM:121300
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Increased muscle fatiguability, Myopathy, Skeletal muscle atrophy OMIM:615511
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced muscle fatigue, Limb muscle weakness ORPHA:45
Bdv Syndrome
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating follicle stimulating hor... OMIM:619326
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
46,Xy Sex Reversal 1
Primary amenorrhea, Elevated circulating luteinizing hormone level, Abnormality of female externa... OMIM:400044
Ovarian Dysgenesis 8
Hypoplastic labia majora, Primary amenorrhea, Elevated circulating luteinizing hormone level, Eun... OMIM:618187
Proximal Renal Tubular Acidosis
Glycosuria, Hypovolemia, Hypokalemia, Nephrocalcinosis, Hyperchloremic metabolic acidosis, Nephro... ORPHA:47159
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Elevated circulating l... ORPHA:90793
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Abnormality of the uterine cervix, Aplasia of the uterus, ... ORPHA:99429
Androgen Insensitivity Syndrome
Primary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:300068
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618014
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Cognitive impairment, Ragged-red muscle fibers, Increased variability in muscle fiber diameter, D... OMIM:607459
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... OMIM:612965
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Creatine Phosphokinase, Elevated Serum
Inflammatory myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Myopathy, Increased musc... OMIM:123320
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Cognitive impairment, Memory impairment, Impaired vibratory sensation, Ra... ORPHA:70595
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Male hypogonadism, Hypogona... OMIM:240950
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
X-Linked Intellectual Disability, Van Esch Type
Impaired social interactions, Cryptorchidism, Decreased serum testosterone concentration, Microce... ORPHA:163976
Fructose Intolerance, Hereditary
Glycosuria, Nausea, Gastrointestinal hemorrhage, Hyperuricosuria, Bicarbonaturia, Proximal tubulo... OMIM:229600
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Feeding difficulties, Elevated circulating creatine kinase concentration, Organic aciduria, Myopa... OMIM:255100
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:453533
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Bilateral cryptorchidism, Abnormality of male interna... OMIM:261550
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Systemic Sclerosis
Proteinuria, Nail bed telangiectasia, Abnormality of the small intestine, Gastrointestinal telang... ORPHA:90291
Autosomal Dominant Progressive External Ophthalmoplegia
Cognitive impairment, Constipation, Ragged-red muscle fibers, Limb muscle weakness, Atrial fibril... ORPHA:254892
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal perforation, Intermittent diarrhea, Gastrointestinal dysmotility, Ragged-red muscle fi... OMIM:603041
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Al Amyloidosis
Gastrointestinal hemorrhage, Proteinuria, Renal interstitial amyloid deposits, Macroglossia, Abdo... ORPHA:85443
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Hypertriglyceridemia, Seizure, Aggressive behavior OMIM:618010
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Hypergonadotropic Hypogonadism-Cataract Syndrome
Primary amenorrhea, Delayed puberty, Secondary growth hormone deficiency, Increased circulating g... ORPHA:2410
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Decreased serum testosterone concentration, Decreased testicular size, Shyness, M... ORPHA:163971
Erythrocyte Lactate Transporter Defect
Exercise-induced muscle fatigue OMIM:245340
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Isochromosomy Yq
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:98798
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability ORPHA:243343
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Increased C-peptide level, Decreased adiponectin level, Hypertension, Hype... OMIM:615238
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hypokalemia, Hyperchloremic metabolic acidosis, Hyperurico... ORPHA:3337
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Hereditary Coproporphyria
Proximal muscle weakness in upper limbs, Small intestinal dysmotility, Nausea, Abnormal circulati... ORPHA:79273
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Skeletal muscle atrophy, Gastroparesis, Abdominal dist... ORPHA:1876
Porphyria, Acute Intermittent
Nausea, Urinary retention, Constipation, Dysuria, Paralytic ileus, Urinary incontinence, Anxiety,... OMIM:176000
Visceral Myopathy 1
Megaduodenum, Urinary retention, Constipation, Hydronephrosis, Aganglionic megacolon, Megacystis,... OMIM:155310
Isolated Osteopoikilosis
Joint stiffness, Abnormal pelvis bone ossification, Increased bone mineral density, Sclerotic foc... ORPHA:166119
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Perrault Syndrome 4
Primary amenorrhea, Obesity, Decreased serum estradiol, Bicornuate uterus, Secondary amenorrhea, ... OMIM:615300
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Thickened cortex of bones ORPHA:564003
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Acute Intermittent Porphyria
Proximal muscle weakness in upper limbs, Constipation, Dysuria, Abdominal distention, Hypertensio... ORPHA:79276
Hydroxykynureninuria
Renal tubular dysfunction, Hypotension, Aminoaciduria, Metabolic acidosis, Tachycardia OMIM:236800
Variegate Porphyria
Constipation, Abdominal pain, Tachycardia, Porphyrinuria, Vomiting OMIM:176200
Melorheostosis
Joint stiffness, Increased bone mineral density, Ectopic ossification in muscle tissue, Hyperosto... ORPHA:2485
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Rhabdomyolysis, Skeletal muscle atrophy, Muscle fiber necrosis, Ragged-red muscle fibers, Increas... OMIM:157640
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Elevated circulating luteinizing hormone level, True hermaphroditism, Ele... OMIM:400045
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Hypertension, Tachycardia, Depression OMIM:602079
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, P... ORPHA:231720
Young-Onset Parkinson Disease
Impaired social interactions, Nausea, Cognitive impairment, Constipation, Anxiety, Dementia, Pani... ORPHA:2828
Sim1-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, External genital hypopla... ORPHA:398079
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Asthma, Atrial septal defect, Pulmonic stenosis, Pyloric stenosis, Arthrogryposis multiplex conge... OMIM:614262
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... OMIM:136300
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Decreased serum testosterone concentration, Abdominal ... OMIM:300869
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Bifid uvula, Small for gestational age, Cryptorchidism, Obesity, Truncal obesity, Pr... ORPHA:96184
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619761
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased serum te... OMIM:614841
Proximal Spinal Muscular Atrophy
Poor suck, Flexion contracture, Multiple joint contractures, Skeletal muscle atrophy, Constipatio... ORPHA:70
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Sudden cardiac death, Myocardial infarction, Hypertension, ... OMIM:610947
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability OMIM:605850
Ethylene Glycol Poisoning
Nausea, Atrial fibrillation, Hypertension, Euphoria, Elevated serum anion gap, Metabolic acidosis... ORPHA:31826
Pyloric Stenosis, Infantile Hypertrophic, 1
Failure to thrive, Pyloric stenosis OMIM:179010
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Sudden cardiac death, Ventricular tachycardia ORPHA:3286
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Constipation, Gastroesophageal reflux, Limb muscle weakness, Elevated circulating cre... OMIM:610131
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Hyperprolactinemia
Menorrhagia, Infertility, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Premature Ovarian Failure 11
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomenorrhea OMIM:616946
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Atherosclerosis Susceptibility
Myocardial infarction, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Arrhythmia, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Hypospadias, Ataxia, Increa... OMIM:614052
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Congestive heart ... OMIM:619048
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Snakebite Envenomation
Rhabdomyolysis, Hyponatremia, Angioedema, Acute kidney injury, Muscle fiber necrosis, Vomiting, C... ORPHA:449285
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Splenomegaly, Increased bone mineral density ORPHA:2204
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hypertriglyceri... ORPHA:79085
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Agenesis of corpus callosum, Small for gestational age, Elevated circulating luteinizing hormone ... OMIM:618419
Meningioma
Focal T2 hypointense thalamic lesion, Decreased serum estradiol, Increased circulating prolactin ... ORPHA:2495
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Primary am... ORPHA:2235
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Lowe Oculocerebrorenal Syndrome
Renal Fanconi syndrome, Proteinuria, Constipation, Bicarbonaturia, Hypercholesterolemia, Hyperpho... OMIM:309000
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:226307
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Acute kidney injury, Highly elevated creatine kinase, Re... ORPHA:368
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Secondary amenor... ORPHA:243
Corticosteroid-Binding Globulin Deficiency
Increased muscle fatiguability OMIM:611489
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Pyloric stenosis, Bilateral cryptorchidism ORPHA:314575
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Micropenis, Decreased serum testos... ORPHA:261534
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Myopathy, Centronuclear, X-Linked
High palate, Respiratory failure requiring assisted ventilation, Flexion contracture, Respiratory... OMIM:310400
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level, Metabolic acidosis, Lactose intolerance, Dehydra... OMIM:223000
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Visceral Myopathy, Familial, With External Ophthalmoplegia
Gastroparesis, Abdominal pain, Abdominal distention, Malnutrition, Spontaneous esophageal perfora... OMIM:277320
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Porphyria Variegata
Proximal muscle weakness in upper limbs, Ileus, Nausea, Abnormal circulating porphyrin concentrat... ORPHA:79473
Cholera
Hypokalemia, Hypovolemic shock, Hyponatremia, Decreased urine output, Acute kidney injury, Abnorm... ORPHA:173
Central Precocious Puberty
Hypothalamic hamartoma, Obesity, Isosexual precocious puberty, Premature thelarche, Increased cir... ORPHA:759
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Eunuc... ORPHA:3044
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria, Nephropathy... OMIM:137950
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Harrod Syndrome
High palate, Malrotation of small bowel, Cryptorchidism, Aganglionic megacolon, High, narrow pala... OMIM:601095
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:66628
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy, Increased muscle fatiguability OMIM:613077
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hypertriglyceri... ORPHA:435651
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Congestive heart failure, Myocardial infarction, Hypertension, Hypertriglyc... OMIM:615703
Magel2-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, External genital hypopla... ORPHA:398069
Hypokalemic Periodic Paralysis
Exercise-induced muscle fatigue, Abnormal muscle fiber morphology, Increased intramyocellular lip... ORPHA:681
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, ... OMIM:144750
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Rhabdomyolysis, Exercise-induced muscle fatigue ORPHA:2364
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
Craniofacial Dyssynostosis With Short Stature
Agenesis of corpus callosum, Cryptorchidism, Pyloric stenosis, Hypoplasia of the corpus callosum,... OMIM:218350
Juvenile Neuronal Ceroid Lipofuscinosis
Cognitive impairment, Progressive language deterioration, Anxiety, Dementia, Motor deterioration,... ORPHA:79264
Epidermolysis Bullosa, Junctional 1B, Severe
Failure to thrive, Pyloric stenosis OMIM:226700
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:179494
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Subvalvular aortic stenosis, Increased variability in muscle fiber diameter, Reduced forced vital... OMIM:619461
Perrault Syndrome 6
Hypoplasia of the uterus, Irregular menstruation, Primary amenorrhea, Secondary amenorrhea, Prema... OMIM:617565
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Elevated circulating creatine kinase concent... ORPHA:435660
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Leukopenia, Increased bone mineral density, Hyperostosis cranialis interna, Thromb... OMIM:231095
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Acute Transverse Myelitis
Orthostatic hypotension, Urinary retention, Somatic sensory dysfunction, Impaired vibratory sensa... ORPHA:139417
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Absent ankle pulse, Impaired distal tactile sensation, Myocardial ... ORPHA:90064
Intermediate Osteopetrosis
Hepatosplenomegaly, Recurrent fractures, Increased susceptibility to fractures, Cortical sclerosi... ORPHA:210110
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Decreased... ORPHA:70472
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Neuroleptic Malignant Syndrome
Nausea, Proteinuria, Hypertension, Dysphagia, Metabolic acidosis, Hypomagnesemia, Arrhythmia, Acu... ORPHA:94093
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Serotonin Syndrome
Nausea, Hepatic failure, Rhabdomyolysis, Acute kidney injury, Anxiety, Mental deterioration, Hypo... ORPHA:43116
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Gitelman Syndrome
Hypokalemia, Constipation, Polyuria, Hypokalemic alkalosis, Hypomagnesemia, Hypocalciuria, Enures... OMIM:263800
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Impaired neutrophil bactericid... OMIM:245480
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Muscular dystrophy, Increased variability in... ORPHA:86812
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Craniofacial osteosclerosis OMIM:122860
Glucose/Galactose Malabsorption
Glycosuria, Hypertonic dehydration, Chronic diarrhea, Hyperactive bowel sounds, Abdominal distent... OMIM:606824
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Mitral regurgitation, Congestive he... ORPHA:363705
Perrault Syndrome 1
High palate, Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233400
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Immunodeficiency, Common Variable, 10
Abnormal response to ACTH stimulation test, Frequent Giardia lamblia infestation, Central adrenal... OMIM:615577
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Hypertrophic cardiomyopathy, Hyperalaninemia, Increased serum lac... OMIM:618250
Eiken Syndrome
Abnormal trabecular bone morphology, Abnormal bone ossification, Limited elbow flexion, Thin bony... ORPHA:79106
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Muscle fiber splitting, Lower limb muscle weakness, Ragged-red muscle fibe... OMIM:616924
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis,... OMIM:166600
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Zellweger Syndrome
High palate, Hepatic failure, Hydronephrosis, Hepatomegaly, Jaundice, Multicystic kidney dysplasi... ORPHA:912
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Microvillus inclusions, Dependency on parenteral nut... OMIM:619445
Trisomy 18P
Microcephaly, Pyloric stenosis, Bilateral cryptorchidism, High, narrow palate ORPHA:1715
Pure Mitochondrial Myopathy
Rhabdomyolysis, Exercise-induced muscle fatigue, Proximal amyotrophy, Quadriceps muscle weakness,... ORPHA:254854
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Cryptorchidism, Impotence, Male hypogonadism, Absence of pubertal development... ORPHA:432
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Aortic regurgitation, Periventricular heterotopia, Gastroesophag... ORPHA:98892
Hsd10 Disease, Neonatal Type
Metabolic acidosis, Abnormal concentration of acylcarnitine in the urine, Hypertrophic cardiomyop... ORPHA:391457
Beta-Ketothiolase Deficiency
Metabolic acidosis, Anorexia, Hepatomegaly, Hypotension, Hyperuricemia, Ketonuria, Apathy, Oral a... ORPHA:134
Ulnar-Mammary Syndrome
Ectopic anus, Cryptorchidism, Obesity, Hypoplasia of penis, Anal atresia, Abnormality of the uter... ORPHA:3138
Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia OMIM:612124
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Combined Oxidative Phosphorylation Deficiency 10
Cognitive impairment, Arrhythmia, Hypertrophic cardiomyopathy, Feeding difficulties, Increased se... OMIM:614702
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Nephrotic Syndrome, Type 1
Pyloric stenosis, Hypothyroidism, Gastroesophageal reflux, Small for gestational age OMIM:256300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Flexion contracture, Congenital muscular dystrophy, Microp... OMIM:613156
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Limb-girdle muscular dystrophy, Exercise-induced muscle fatigue ORPHA:369847
Multiple Mitochondrial Dysfunctions Syndrome 3
High palate, Cognitive impairment, Feeding difficulties, Polyhydramnios, Irritability, Lactic aci... OMIM:615330
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Decreased circulating progesterone, Polycystic ova... ORPHA:572333
Congenital Short Bowel Syndrome
Intestinal malrotation, Decreased intestinal transit time, Abnormal peristalsis, Vomiting, Chroni... OMIM:615237
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Feeding difficulties, Increased level of methyl... ORPHA:26792
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Premature atrial contractions, Atr... OMIM:611493
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Rhabdomyolysis, Cardiac arrest, Torsade de pointes, Ventricular fibrillation, Elevated circulatin... OMIM:616878
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, EMG: myopathic ... ORPHA:169189
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Tetanus
Elevated urinary epinephrine, Elevated circulating creatine kinase concentration, Abdominal pain,... ORPHA:3299
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... ORPHA:95699
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia, Increased serum serotonin, Neuroen... ORPHA:100083
Kleefstra Syndrome
Tetralogy of Fallot, Renal cyst, Tracheomalacia, Arrhythmia, Micropenis, Self-injurious behavior,... ORPHA:261494
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Skeletal muscle atrophy, Respiratory failure, Paucity of anterior horn motor neurons... OMIM:611890
Fg Syndrome Type 1
Small pituitary gland, High palate, Malrotation of colon, Slender build, Cryptorchidism, Aplasia/... ORPHA:93932
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hypertriglyceridemia, Hypertension, Hyperinsulinemia ORPHA:71529
Loeffler Endocarditis
T-wave inversion, Abnormal cardiomyocyte morphology, Right bundle branch block, Endocardial fibro... ORPHA:75566
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the upper limb, Cold-sensitive myotonia, Paradoxical myotonia, Myotonia of the jaw, M... ORPHA:684
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Orthostatic hypotension, Glomerular sclerosis, Elevated circulat... OMIM:223900
47,Xyy Syndrome
Impaired social interactions, Varicocele, Cryptorchidism, Micropenis, Azoospermia, Increased seru... ORPHA:8
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Elevated lactate:pyruvate ratio, Hyperpro... OMIM:619003
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Azoospermia, Decreased serum testo... ORPHA:99330
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Intermittent lactic acidemia, Reye syndrome-like episodes, Increased urinary gly... ORPHA:348
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Crackles, Left bundle branch block, Hyp... ORPHA:563
Galactosemia I
Hypergalactosemia, Hyperchloremic metabolic acidosis, Increased level of galactonate in red blood... OMIM:230400
Hyperostosis Frontalis Interna
Obesity, Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Hsd10 Disease, Infantile Type
Choreoathetosis, Paroxysmal bursts of laughter, Gastrointestinal dysmotility, Hypertrophic cardio... ORPHA:391428
Aa Amyloidosis
Nausea, Enlarged kidney, Nephrotic syndrome, Proteinuria, Acute kidney injury, Abnormality of the... ORPHA:85445
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria, Feeding difficulties, Increased serum lactate, Edema OMIM:614652
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Choreoathetosis, Gait ataxia, Truncal ataxia, Urinary incontinence, Bowel incontinence, Gastropar... OMIM:618877
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Metabolic acidosis, Hyperamylasemia, Anorexia, Hypertrophic cardiomyopathy, Eleva... OMIM:619386
Malignant Hyperthermia, Susceptibility To, 1
Rhabdomyolysis, Hyperkalemia, Mixed respiratory and metabolic acidosis, Hypotension, Myoglobinuri... OMIM:145600
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Splenomegaly, Anemia, Arthritis ORPHA:37748
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary prolactin cell ad... OMIM:102200
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Microvillus Inclusion Disease
Hypovolemia, Nephrocalcinosis, Metabolic acidosis, Abdominal distention, Abnormal renal physiolog... ORPHA:2290
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Feeding difficulties, Gait ataxia, Aminoaciduria, Progressive neurologic de... OMIM:612075
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly, Pyloric stenosis ORPHA:664
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Reduced ejection fraction, Periportal fibrosis, Gastroesophageal reflux, Tachy... OMIM:201475
Acquired Methemoglobinemia
Arrhythmia, Anxiety, Palpitations, Abdominal pain, Syncope, Tachycardia, Acidosis, Vomiting ORPHA:464453
Xp21 Deletion Syndrome
Recurrent otitis media, Myopathy, Decreased muscle mass, Increased muscle fatiguability, Calf mus... ORPHA:261476
Central Diabetes Insipidus
Hyponatremia, Anxiety, Anorexia, Nocturia, Dehydration, Nausea and vomiting, Polydipsia, Depressi... ORPHA:178029
Atrial Standstill
Nausea, Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular bloc... ORPHA:1344
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Pyloric stenosis, Bilateral cryptorchidism, Meckel diverticulum OMIM:616395
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Hepatic steatosis, Flexion contracture, Muscle mounding, Bradycardia, Muscular dystrophy, ... OMIM:613327
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Weakness of muscles of respiration, Hepatic steatosis, Congestive heart failure, Generalized amyo... ORPHA:52430
Esophageal Atresia
Aspiration, Gastrointestinal dysmotility, Anorectal anomaly, Dysphagia, Ventricular septal defect... ORPHA:1199
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Sparse bone trabeculae, Generalized bone demineralization, Thin bony cortex, Delayed epiphyseal o... OMIM:600785
Marden-Walker Syndrome
High palate, Agenesis of corpus callosum, Cryptorchidism, Micropenis, Zollinger-Ellison syndrome,... OMIM:248700
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Nausea, Abnormality of the gastrointestinal tract, Abnormality of t... ORPHA:298
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resistant diabetes mellitus... ORPHA:280356
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal mitral valve morphology, Abnormality of blood circulation, Tachypnea, Ventric... ORPHA:860
Ovarian Dysgenesis 2
Primary amenorrhea, Gonadal hypoplasia, Hypergonadotropic hypogonadism, Abnormality of the uterus... OMIM:300510
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomegaly, Increased serum lactate, Myo... OMIM:618234
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Proteinuria, Intermittent lactic acidemia, Abnormality of the kidney, Hypertrophi... ORPHA:369
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Respiratory insufficiency, Left ventricular hypertrophy OMIM:614654
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Abnormal renal corticomedullary differentiation, Hypertension, Respiratory d... OMIM:616733
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Hsd10 Disease
Nasogastric tube feeding in infancy, Abnormal urinary acylglycine profile, Choreoathetosis, Abnor... ORPHA:391417
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Congestive heart failure, Abnormal atrioventricular conduction, Hypertrophic cardiomyopathy, Decr... ORPHA:280365
Cystinosis
Hypokalemia, Portal hypertension, Renal tubular dysfunction, Proteinuria, Dehydration, Aminoacidu... ORPHA:213
Chronic Granulomatous Disease
Sinusitis, Tracheoesophageal fistula, Splenomegaly, Hepatomegaly, Chronic pulmonary obstruction, ... ORPHA:379
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Hypoproteinemia, Small bowel diverticula, Jejunoileal ulceration, Tachycardia OMIM:221400
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Abnormal left ventricular function, Congestive heart failure, Arrhythmia, Ragged-red muscle fiber... OMIM:540000
Sulfite Oxidase Deficiency, Isolated
Choreoathetosis, Increased urinary sulfite, Decreased urinary sulfate, Ataxia, Elevated circulati... OMIM:272300
Pyruvate Dehydrogenase E3 Deficiency
Elevated plasma branched chain amino acids, Increased urine alpha-ketoglutarate concentration, He... ORPHA:2394
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Renal Fanconi syndrome, Metabolic ketoacidosis, Proteinuria, Hypophosphatemic rickets... ORPHA:263455
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Generalized osteosclerosis, Advanced tarsal ossification OMIM:215045
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Proximal 16P11.2 Microdeletion Syndrome
Impaired social interactions, Syringomyelia, Atrial septal defect, Gastroesophageal reflux, Abnor... ORPHA:261197
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Oligohydramnios, Hepatomegaly, Elevated circulating creatine kinase concentra... OMIM:617713
Angioosteohypotrophic Syndrome
Thin bony cortex, Abnormal trabecular bone morphology ORPHA:75508
Multiple Acyl-Coa Dehydrogenase Deficiency
Lacticaciduria, Elevated circulating acylcarnitine concentration, Polycystic kidney dysplasia, Dy... ORPHA:26791
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Congestive heart failure, Abnormalit... ORPHA:206546
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Panhypopituit... ORPHA:95619
Pyruvate Dehydrogenase Phosphatase Deficiency
Gait ataxia, Lactic acidosis, Dysphagia OMIM:608782
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypot... OMIM:212138
X-Linked Non-Syndromic Intellectual Disability
Obesity, Pyloric stenosis, Small for gestational age, Meckel diverticulum ORPHA:777
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Cocaine Intoxication
Intestinal perforation, Nausea, Proteinuria, Hypertension, Prolonged QRS complex, Pulmonary edema... ORPHA:90068
Hyperinsulinism Due To Ucp2 Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Hypertrophic cardiomyopat... ORPHA:276556
Hsd10 Mitochondrial Disease
Choreoathetosis, Hypertrophic cardiomyopathy, Aggressive behavior, Progressive neurologic deterio... OMIM:300438
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal bone structure, Multiple bony cystic lesions, Abnormal trabecu... ORPHA:83451
Malonyl-Coa Decarboxylase Deficiency
Elevated urine suberic acid level, Dilated cardiomyopathy, Methylmalonic aciduria, Constipation, ... OMIM:248360
3-Methylglutaconic Aciduria, Type I
Cognitive impairment, Dementia, 3-Methylglutaconic aciduria, Athetosis, Ataxia, Self-mutilation, ... OMIM:250950
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Congestive heart failure, Wolff-Parkinson-White syndrome, Respiratory failure, Paroxysm... ORPHA:444013
Stormorken Syndrome
Myopathy, Increased muscle fatiguability OMIM:185070
Complete Atrioventricular Septal Defect
Crackles, Tachypnea, Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertensio... ORPHA:1329
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Cardiomyopathy, Diabetes mellitus, Hypertrigl... OMIM:610717
Car T Cell Therapy-Associated Cytokine Release Syndrome
Nausea, Elevated circulating creatinine concentration, Decreased urine output, Acute kidney injur... ORPHA:542323
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Myotonia, Diabetes mellitus, Pa... OMIM:602668
Koolen-De Vries Syndrome
Hypothyroidism, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, High, narrow palate, M... ORPHA:96169
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Mitochondrial Complex I Deficiency, Nuclear Type 5
Ataxia, Irritability, Lactic acidosis, Dysphagia, Vomiting OMIM:618226
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Agenesis of corpus callosum, Small for gestational age, Cryptorchidism, Anencephaly,... OMIM:619148
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Arrhythmia, Hypertriglyceridemia, Increased L... OMIM:616516
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Tracheomalacia, Tachypnea, Dyspnea, Atelectasis, Upper ... ORPHA:60032
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
3-Methylglutaric aciduria, Vomiting, Decreased plasma carnitine, Hepatomegaly, Hyperuricemia, Apa... OMIM:246450
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Episodic metabolic acidosis, Feeding difficulties in infancy, Flexion contracture, Myopathy, Ethy... OMIM:201470
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Abnormal social behavior, Complex febrile seizure, Anxi... ORPHA:101039
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Myopathy, Exercise-induced muscle fatigue ORPHA:713
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Lowry-Maclean Syndrome
Aplasia/Hypoplasia of the corpus callosum, High, narrow palate, Microcephaly, Midgut malrotation,... ORPHA:2409
Combined Oxidative Phosphorylation Deficiency 30
Gastroesophageal reflux, Left ventricular hypertrophy, Decreased liver function, Elevated hepatic... OMIM:616974
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Ventricular fibrillation, Ventricular tachycardia, Arrhy... ORPHA:26793
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Hypohidrosis, Cryptorchidism, Testicular seminoma, Lissencephaly, Hy... ORPHA:281090
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Nausea, Dysphagia, Microscopic hematuria, Metabolic acidosis, Diarrhe... ORPHA:319213
Spinocerebellar Ataxia 48
Dysmetria, Anxiety, Mental deterioration, Ataxia, Gait ataxia, Irritability, Dysphagia, Chorea, U... OMIM:618093
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Seizure, Myoclonus OMIM:615924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Muscular dystrophy, Lissencephaly, Pachygyria, Type II lissencephaly, Respiratory insuffi... OMIM:613153
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... OMIM:300048
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Generalized amyotrophy, EMG: myopathic abnormalities, Limb muscle weakn... OMIM:609560
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Feeding difficulties in infancy, Self-injurious behavior, Impaired temperature sensation, Pedal e... ORPHA:98754
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Hypertrophic cardiomyopat... ORPHA:276575
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Pyloric stenosis, Nephrolithiasis, Hydroureter OMIM:617219
Mgat2-Cdg
Arrhythmia, Hydrops fetalis, Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Feedin... ORPHA:79329
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Reynolds Syndrome
Mucosal telangiectasiae, Gastroesophageal reflux, Hepatomegaly, Jaundice, Telangiectasia of the s... ORPHA:779
Prader-Willi Syndrome
Poor suck, Nasogastric tube feeding in infancy, Impaired temperature sensation, Edema, Hypertensi... ORPHA:739
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlargement, Restrictive cardiomy... OMIM:115210
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Feeding difficulties in infancy, Self-injurious behavior, Impaired temperature sensation, Pedal e... ORPHA:98793
Arterial Tortuosity Syndrome
Hiatus hernia, Abnormal myocardium morphology, Dilated cardiomyopathy, Cardiac arrest, Congestive... ORPHA:3342
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Feeding difficulties in infancy, Self-injurious behavior, Impaired temperature sensation, Pedal e... ORPHA:177904
Sepsis In Premature Infants
Oliguria, Gastrointestinal dysmotility, Metabolic acidosis, Decreased liver function, Elevated ci... ORPHA:90051
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Feeding difficulties in infancy, Self-injurious behavior, Impaired temperature sensation, Pedal e... ORPHA:177901
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle atrophy, Abnormal lower motor neuron morphology, Lower limb muscle weakness, Hand mus... OMIM:607641
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Renal cortical hyperech... OMIM:611555
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Paget Disease Of Bone 3
Fractures of the long bones, Patchy osteosclerosis, Osteolysis OMIM:167250
Atrial Septal Defect, Ostium Primum Type
Abnormal respiratory system physiology, Right atrial enlargement, Tachypnea, Right bundle branch ... ORPHA:99106
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Hyperinsulinemia, Enlarged polycy... ORPHA:785
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic aciduria, Intermittent diarrhea, Memory impairment, Methylma... ORPHA:289504
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiomyopathy, Left atrial enla... OMIM:611556
Cirrhosis, Familial
Increased level of L-fucose in urine, Esophageal varix, Pulmonary arterial hypertension, Abdomina... OMIM:215600
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
His Bundle Tachycardia
Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Necrobiosis Lipoidica
Telangiectasia of the skin, Granuloma, Abnormality of neutrophil physiology, Diabetes mellitus ORPHA:542592
Methylmalonyl-Coa Epimerase Deficiency
Hyperhomocystinemia, Methylmalonic aciduria, Metabolic acidosis, Gastroesophageal reflux, Elevate... OMIM:251120
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Feeding difficulties in infancy, Nasogastric tube feeding in in... ORPHA:453504
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Primary am... ORPHA:478
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Feeding difficulties in infancy, Nasogastric tube feeding in in... ORPHA:352665
Senior-Boichis Syndrome
Suicidal ideation, Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Abnormal r... ORPHA:84081
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory failure, Tachypnea, Cough, Tubulointerstitial fibrosis, Respiratory distres... OMIM:263000
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Odontoma-Dysphagia Syndrome
Abnormal esophagus morphology, Dysphagia OMIM:164330
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Infertility, Primary gonadal insufficiency, Primary amenorrhea, Delayed pu... ORPHA:2232
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Obesity, Gonadoblastoma, Abnormality of the uterus, S... OMIM:194072
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Increased C-peptide level, Hypertrophic cardiomyopathy, Feeding difficulties, Hepatomegaly, Palpi... ORPHA:276580
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Increased urinary glycerol, Irritability, Metabolic acidosis, Tachycardia OMIM:229700
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Microcephaly, Congenital pyloric atresia, Hyperhidrosis ORPHA:2617
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Serrated Polyposis Syndrome
Colorectal polyposis, Neoplasm of the large intestine, Biliary tract neoplasm, Ovarian neoplasm, ... ORPHA:157798
Prolactinoma
Irregular menstruation, Erectile dysfunction, Central adrenal insufficiency, Adrenocorticotropin ... ORPHA:2965
Combined Oxidative Phosphorylation Deficiency 1
Elevated lactate:pyruvate ratio, Feeding difficulties, Hepatomegaly, Poor eye contact, Increased ... OMIM:609060
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Dysphagia, Skeletal muscle atrophy ORPHA:247604
Mitochondrial Myopathy, Infantile, Transient
Muscle fiber hypertrophy, Ragged-red muscle fibers, Increased serum pyruvate, Increased muscle li... OMIM:500009
Colchicine Poisoning
Nausea, Hypokalemia, Metabolic acidosis, Hypomagnesemia, Diarrhea, Arrhythmia, Congestive heart f... ORPHA:31824
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity ORPHA:140941
Cholesterol Pneumonia
Cyanosis, Tachypnea, Pneumonia, Cough OMIM:215030
Prader-Willi-Like Syndrome
Feeding difficulties in infancy, Self-injurious behavior, Impaired temperature sensation, Pedal e... ORPHA:398073
Hyperinsulinism Due To Hnf1A Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Feeding difficulties, Hep... ORPHA:324575
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Feeding difficulties in infancy, Hyponatremia, Hyperkalemia, Metabolic acidosis, Renal salt wasti... OMIM:264350
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Metabolic acidosis, Myopathy, Hyperalaninemia, Skeletal muscle atrophy ORPHA:2597
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Restrictive ventilatory defect, Tachypnea, Pulmonary hemorrhage, Cough, Dyspnea, Crescentic glome... OMIM:616414
Carnitine-Acylcarnitine Translocase Deficiency
Oliguria, Hepatic failure, Rhabdomyolysis, Ventricular tachycardia, Arrhythmia, Elevated circulat... ORPHA:159
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Osteopetrosis, Thrombocytopenia OMIM:615085
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Scorpion Envenomation
Glycosuria, Hypokalemia, Premature ventricular contraction, Respiratory alkalosis, T-wave inversi... ORPHA:466677
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Griscelli Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Hepatitis, Pyloric stenosis ORPHA:381
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:610476
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Mental deterioration, Feeding difficulties, Pulmonary arterial hyper... OMIM:619051
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Dysphagia OMIM:611637
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Elevated circulating creatinine concentration, Proteinuria, Hypouricemia... ORPHA:411634
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Dyspnea, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myo... OMIM:613873
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Metabolic acidosis, Increased serum lactate, Hepatomegaly OMIM:615158
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology, Scapuloperoneal amyotrophy, Respiratory insufficiency due... OMIM:611067
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Combined Oxidative Phosphorylation Deficiency 9
Elevated lactate:pyruvate ratio, Hypertrophic cardiomyopathy, Tubulointerstitial nephritis, Hepat... OMIM:614582
Avian Influenza
Nonproductive cough, Rhabdomyolysis, Pneumonia, Hypoxemia, Congestive heart failure, Acute kidney... ORPHA:454836
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Decreased liver function, Hepatomegaly, Feeding difficulties, Ataxia... OMIM:246900
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Relapsing Fever
Elevated circulating creatinine concentration, Hematuria, Acute kidney injury, Elevated circulati... ORPHA:91547
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive, Diabetes mellitus, Type II ... ORPHA:181393
Buschke-Ollendorff Syndrome
Craniosynostosis, Joint stiffness, Flexion contracture, Recurrent fractures, Abnormal bone struct... ORPHA:1306
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Low frustration tolerance, Patent foramen ovale, Atrial septal defect, Contracture o... ORPHA:457279
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Feeding difficulties in infancy, Hyperprolinemia, Increased serum pyruvate, Splenomegaly, Ataxia,... OMIM:619046
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormal bone ossifica... ORPHA:2114
Tsh-Secreting Pituitary Adenoma
Infertility, Irregular menstruation, Euthyroid hyperthyroxinemia, Erectile dysfunction, Central a... ORPHA:91347
Amish Lethal Microcephaly
Cleft soft palate, Limb hypertonia, Feeding difficulties, Hepatomegaly, Irritability, Organic aci... ORPHA:99742
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Respiratory failure requiring assisted ventilation, Elevated circulating alanine am... ORPHA:308552
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Cognitive impairment, Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating cre...