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
Weight loss, Dysphagia, Gastroesophageal reflux 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
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Hepatomegaly, Increased urinary porphobilinogen, Diar... OMIM:121300
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:619203
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Premature Ovarian Failure 17
Decreased circulating inhibin B concentration, Premature ovarian insufficiency, Decreased cirrcul... OMIM:619146
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Gonadal dysgenesis with female appearan... OMIM:273250
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Premature Ovarian Failure 7
Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ... OMIM:612964
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
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
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced muscle fatigue, Limb muscle weakness ORPHA:45
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Eunuchoid habitus, Elevated circulating... OMIM:618187
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... OMIM:262600
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Increased muscle fatiguability, Skeletal muscle atrophy, Myopathy OMIM:615511
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
46,Xy Sex Reversal 1
Absence of secondary sex characteristics, Gonadal dysgenesis, Abnormal female external genitalia ... OMIM:400044
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... ORPHA:90793
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Androgen Insensitivity Syndrome
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, El... OMIM:300068
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Variegate Porphyria
Elevated urinary delta-aminolevulinic acid, Increased fecal protoporphyrin concentration, Increas... OMIM:176200
Complete Androgen Insensitivity Syndrome
Delayed puberty, Blind vagina, Male infertility, Abnormal circulating follicle-stimulating hormon... ORPHA:99429
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Decreased thyroid-stimulating hormone level, Decreased circulating follicle stimulating hormone c... OMIM:620651
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Intestinal pseudo-obstruction, Memory impairment, Ragged-red muscle fibers, Gastroparesis, Depres... ORPHA:70595
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Gastroparesis, Positive Romberg sign, Impaired distal vibration se... OMIM:607459
Proximal Renal Tubular Acidosis
Polydipsia, Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypoka... ORPHA:47159
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Abnormal muscle fiber mo... OMIM:123320
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Partial Androgen Insensitivity Syndrome
Increased circulating antimullerian hormone concentration, Clitoral hypertrophy, Aplasia of the u... ORPHA:90797
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Mungan Syndrome
Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Vesicoureteral reflux, Barrett esop... OMIM:611376
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Absence of secondary sex characteristics, Abnormal labia morphology, Testicular ... ORPHA:251510
Ovarian Dysgenesis 4
Decreased serum estradiol, Decreased body weight, Elevated circulating follicle stimulating hormo... OMIM:616185
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Precocious Puberty, Central, 1
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... OMIM:176400
Fructose Intolerance, Hereditary
Bicarbonaturia, Gastrointestinal hemorrhage, Lactic acidosis, Metabolic acidosis, Hepatomegaly, H... OMIM:229600
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intermittent diarrhea, Intestinal pseudo-obstruction, Gastroparesis, Dysphagia, Early satiety, El... OMIM:603041
Premature Ovarian Failure 22
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:620548
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Abnormal se... ORPHA:90796
Al Amyloidosis
Gastrointestinal hemorrhage, Gastroparesis, Dysphagia, Postural hypotension with compensatory tac... ORPHA:85443
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Systemic Sclerosis
Nail bed telangiectasia, Gastroparesis, Bowel incontinence, Pericarditis, Dysphagia, Intestinal b... ORPHA:90291
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... ORPHA:163976
Premature Ovarian Failure 16
Decreased serum estradiol, Reduced antral follicle count, Premature ovarian insufficiency, Elevat... OMIM:618723
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Organic aciduria, Elevated circulating creatine kin... OMIM:255100
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Trimethylaminuria
Trimethylaminuria, Depression, Hypertension, Splenomegaly, Tachycardia OMIM:602079
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Visceral Myopathy 1
Abdominal distention, Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pol... OMIM:155310
Premature Ovarian Failure 15
Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E... OMIM:618096
Autosomal Dominant Progressive External Ophthalmoplegia
Gastroparesis, Facial diplegia, Cognitive impairment, Gait ataxia, Nocturia, Dysphagia, Ataxia, L... ORPHA:254892
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho... ORPHA:3337
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Erythrocyte Lactate Transporter Defect
Exercise-induced muscle fatigue OMIM:245340
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Decreased circulating luteinizing hormone lev... OMIM:228300
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability ORPHA:243343
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Decreased serum leptin, Hypertension, Increased C-peptide level, Decreased ... OMIM:615238
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Oculogastrointestinal Muscular Dystrophy
Abdominal distention, Abnormality of the gastrointestinal tract, Intestinal pseudo-obstruction, G... ORPHA:1876
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Ethylene Glycol Poisoning
Renal tubular epithelial necrosis, Prolonged QT interval, Hypertension, Ataxia, Cerebral edema, M... ORPHA:31826
Young-Onset Parkinson Disease
Agitation, Gastroparesis, Diarrhea, Depression, Short attention span, Impulsivity, Frontal lobe d... ORPHA:2828
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Hypospadias, Hypergonadotropic hypogonadism, Decreased ... ORPHA:163971
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Hypoplasia of the uterus, Stre... ORPHA:168563
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Acute Intermittent Porphyria
Urinary incontinence, Increased urinary porphobilinogen, Hypertension, Dark urine, Nausea and vom... ORPHA:79276
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones ORPHA:564003
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... OMIM:278850
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Pituitary h... ORPHA:231720
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... ORPHA:166119
Sclerosteosis
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:3152
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Proximal Spinal Muscular Atrophy
Distal lower limb muscle weakness, Metabolic acidosis, Weakness of facial musculature, Gastroesop... ORPHA:70
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ventricular bigeminy, Gastroparesis, Gastroesophageal reflux, Left bundle branch block, Facial pa... OMIM:610131
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619761
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Gastroparesis, Ragged-red muscle fibers, Depression, Impaired distal proprioception, Facial palsy... OMIM:157640
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic... OMIM:136300
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, High palate, Pyloric stenosis, Precocious puberty, Obesity,... ORPHA:96184
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Porphyria, Acute Intermittent
Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Diarrhea, Abdominal pain, Depre... OMIM:176000
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc... ORPHA:398079
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A... OMIM:620303
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Primary amenorrhea, Decrease... OMIM:618841
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
46,Xx Sex Reversal 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Hypogonadism, Abdominal obesity, Increased circulating gonadotropin le... OMIM:300869
Dimethylglycine Dehydrogenase Deficiency
Increased muscle fatiguability OMIM:605850
Hereditary Coproporphyria
Elevated urinary delta-aminolevulinic acid, Proximal muscle weakness in upper limbs, Increased ur... ORPHA:79273
Premature Ovarian Failure 11
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level OMIM:616946
Melorheostosis
Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in muscle tissue, J... ORPHA:2485
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Failure to thrive OMIM:179010
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Decreased circulating dehydroepiandrosterone-sul... OMIM:250790
Mueller-Weiss Syndrome
Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f... ORPHA:566943
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Acute kidney ... ORPHA:368
Premature Ovarian Failure 5
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Snakebite Envenomation
Acute kidney injury, Diarrhea, Muscle fiber necrosis, Neuromuscular dysphagia, Cerebral ischemia,... ORPHA:449285
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Myocardial infarction OMIM:108725
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Serotonin Syndrome
Irritability, Agitation, Lactic acidosis, Acute kidney injury, Diarrhea, Confusion, Hypertension,... ORPHA:43116
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ... OMIM:613986
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:289548
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Increased muscle fatiguability, Facial palsy, Weakness of facial musculature OMIM:616323
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... OMIM:300845
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
3-Methylglutaconic aciduria, Lactic acidosis, Hypospadias, Gastroparesis, Hypertension, Hyperalan... OMIM:614052
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses OMIM:166740
Pandas
Anorexia, Obsessive-compulsive trait, Encopresis, Irritability, Abnormal fear-induced behavior, D... ORPHA:66624
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 17
Male infertility OMIM:617214
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Increased circulating antibody level, Fasting hypoglycemia, Nonket... ORPHA:411593
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Anterior hypopituit... ORPHA:2235
Cholera
Irritability, Abnormal blood ion concentration, Lactic acidosis, Acute kidney injury, Hypokalemia... ORPHA:173
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate, Bilateral cryptorchidism ORPHA:314575
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal distention, Gastroparesis, Abdominal pain, Spontaneous esophageal perforation, Malnutri... OMIM:277320
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Hyperprolactinemia
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Lowe Oculocerebrorenal Syndrome
Low-molecular-weight proteinuria, Joint contracture of the hand, Bicarbonaturia, Hypercholesterol... OMIM:309000
Meningioma
Neoplasm of the tongue, Impotence, Decreased circulating cortisol level, Abnormal hypothalamus ph... ORPHA:2495
Mitochondrial Complex I Deficiency, Nuclear Type 26
Elevated lactate:pyruvate ratio, Metabolic acidosis, Limb hypertonia, Distal amyotrophy, Increase... OMIM:618247
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Myocardial infarction OMIM:604091
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... OMIM:607634
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Type II diabetes mel... OMIM:610947
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Failure to thrive, Cleft palate, Elevated circulating ... OMIM:305400
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Hypertension, Nephropathy, Nephrotic syndrome, M... OMIM:137950
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Mitochondrial Complex I Deficiency, Nuclear Type 13
Irritability, Hepatomegaly, Metabolic acidosis, Bradycardia, Decreased circulating carnitine conc... OMIM:618235
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Elevated circulatin... OMIM:619048
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased serum leptin, Decreased adiponectin level, Insulin-resistant diab... ORPHA:79085
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Congestive heart failure, Lactic acidosis, Metabolic acidosis, Gastroes... ORPHA:70472
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Increase... OMIM:615703
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Exercise-induced muscle fatigue, Increased intramyocellular lip... ORPHA:681
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
3-Methylglutaconic Aciduria, Type I
3-Methylglutaconic aciduria, Urinary incontinence, Metabolic acidosis, Athetosis, Short attention... OMIM:250950
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Increased body weight, Hypogonadism, Hypothalamic luteinizing hormone-rele... ORPHA:398069
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Cocaine Intoxication
Prolonged QT interval, Hypertension, Prolonged QRS complex, Diffuse alveolar hemorrhage, Mania, A... ORPHA:90068
Fg Syndrome 3
Pyloric stenosis, Cryptorchidism OMIM:300406
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
49,Xxxyy Syndrome
Increased circulating gonadotropin level, External genital hypoplasia, Abnormality of the testis ... ORPHA:261534
Lactase Deficiency, Congenital
Metabolic acidosis, Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intoleranc... OMIM:223000
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Refractory anemia, Myelofibrosis, Thrombocytopenia, Leukopenia, H... OMIM:231095
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Decreased testicular size, Eunuchoid habitus, Elevated circulating follicle stimu... ORPHA:3044
Combined Oxidative Phosphorylation Deficiency 30
Decreased liver function, Gastroesophageal reflux, Respiratory distress, Polymicrogyria, Elevated... OMIM:616974
Intermediate Osteopetrosis
Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplen... ORPHA:210110
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Rhabdomyolysis, Exercise-induced muscle fatigue ORPHA:2364
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Multiple Mitochondrial Dysfunctions Syndrome 3
Irritability, Beta-aminoisobutyric aciduria, Lactic acidosis, Metabolic acidosis, Elevated lactat... OMIM:615330
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Juvenile Neuronal Ceroid Lipofuscinosis
Tube feeding, Depression, Emotional lability, Cognitive impairment, Progressive language deterior... ORPHA:79264
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Metabolic acidosis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kin... OMIM:619386
Gitelman Syndrome
Polydipsia, Prolonged QT interval, Renal potassium wasting, Nocturia, Ataxia, Salt craving, Hypok... OMIM:263800
Porphyria Due To Ala Dehydratase Deficiency
Abdominal distention, Ankle flexion contracture, Agitation, Abnormal fear-induced behavior, Incre... ORPHA:100924
Acute Transverse Myelitis
Distal lower limb muscle weakness, Urinary incontinence, Impaired proprioception, Orthostatic hyp... ORPHA:139417
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis, Failure to thrive OMIM:226700
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi... OMIM:612124
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Mitochondrial Complex I Deficiency, Nuclear Type 5
Irritability, Lactic acidosis, Metabolic acidosis, Hepatomegaly, Episodic vomiting, Increased cir... OMIM:618226
Frasier Syndrome
Ambiguous genitalia, male, Gonadoblastoma, Hypergonadotropic hypogonadism, Male pseudohermaphrodi... ORPHA:347
Neuroleptic Malignant Syndrome
Urinary incontinence, Bradycardia, Myoglobinuria, Chorea, Hypertension, Hypertensive crisis, Dysp... ORPHA:94093
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Acute Peripheral Arterial Occlusion
Myocardial infarction, Supraventricular tachycardia, Abnormal capillary physiology, Limb muscle w... ORPHA:90064
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased serum leptin, Decreased adiponectin level, Insulin-resistant diab... ORPHA:435651
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Increased muscle fatiguability, Myopathy OMIM:613077
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, High palate, Primary amenorrhea OMIM:233400
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Hsd10 Disease
Chronic lactic acidosis, Abnormal social behavior, Short attention span, Choreoathetosis, Ataxia,... ORPHA:391417
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia OMIM:615770
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Pyloric stenosis, Abnormal response to ACT... OMIM:615577
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Camptodactyly, Pyloric stenosis, Pulmonic stenosis, Atrial septal defe... OMIM:614262
Hsd10 Mitochondrial Disease
Agitation, Lactic acidosis, Metabolic acidosis, Hypertrophic cardiomyopathy, Choreoathetosis, Res... OMIM:300438
Sulfite Oxidase Deficiency, Isolated
Agitation, Metabolic acidosis, Episodic vomiting, Decreased urinary sulfate, Elevated circulating... OMIM:272300
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ... OMIM:166600
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased serum leptin, Elevated circulating creatine kinase concentration,... ORPHA:435660
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Porphyria Variegata
Elevated urinary delta-aminolevulinic acid, Proximal muscle weakness in upper limbs, Increased ur... ORPHA:79473
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l... OMIM:616924
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Eiken Syndrome
Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal trabecular bone morphology,... ORPHA:79106
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Agitation, Hypophosphatemic rickets, Hepatomegaly, Diarrhea, Metabolic ketoacidosis, Vomiting, Gl... ORPHA:263455
Kleine-Levin Syndrome
Polydipsia, Irritability, Agitation, Abnormal eating behavior, Transient global amnesia, Depressi... ORPHA:33543
Hsd10 Disease, Neonatal Type
Abnormal concentration of acylcarnitine in the urine, Lactic acidosis, Metabolic acidosis, Hypert... ORPHA:391457
Hsd10 Disease, Infantile Type
Lactic acidosis, Metabolic acidosis, Hypertrophic cardiomyopathy, Increased circulating lactate c... ORPHA:391428
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:609441
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Alaninuria, Metabolic acidosis, Increased circulating lactate concentration OMIM:615158
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Delirium, Pseudobulbar paralysis ORPHA:208441
Ulnar-Mammary Syndrome
Delayed puberty, Hypoplasia of penis, Breast aplasia, Ectopic anus, Hypoplastic nipples, Anal atr... ORPHA:3138
Periventricular Nodular Heterotopia
Aortic regurgitation, Gastroesophageal reflux, Abnormal heart valve morphology, Pyloric stenosis,... ORPHA:98892
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Pure Mitochondrial Myopathy
Scapular winging, Rhabdomyolysis, Proximal amyotrophy, Pelvic girdle muscle weakness, Quadriceps ... ORPHA:254854
Pyruvate Dehydrogenase Phosphatase Deficiency
Gait ataxia, Lactic acidosis, Dysphagia, Feeding difficulties OMIM:608782
Mercury Poisoning
Anorexia, Acute kidney injury, Episodic vomiting, Hypokalemia, Confusion, Hypertension, Episodic ... ORPHA:330021
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys... OMIM:144750
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, Splenom... OMIM:611490
Osteopetrosis, Autosomal Recessive 9
Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Pathologic fracture OMIM:620366
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Acute rhabdomyolysis, Lactic acidosis, Metabolic acidosis, Oral-pharyngeal dysphagia, Prolonged Q... OMIM:616878
Nephrotic Syndrome, Type 1
Pyloric stenosis, Hypothyroidism, Small for gestational age, Gastroesophageal reflux OMIM:256300
Diarrhea 12, With Microvillus Atrophy
Abdominal distention, Metabolic acidosis, Microvillar PAS-positive secretory granules, Vomiting, ... OMIM:619445
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
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Congenital Short Bowel Syndrome
Abdominal distention, Steatorrhea, Metabolic acidosis, Projectile vomiting, Chronic diarrhea, Abn... OMIM:615237
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Myopathy, Exercise-induced muscle fatigue ORPHA:369847
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr... OMIM:611493
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis, Cryptorchidism, Hypospadias OMIM:218350
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Atrial Standstill
Bradycardia, Cardiomyopathy, Mobitz I atrioventricular block, Nausea, Ventricular escape rhythm, ... ORPHA:1344
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Abnormal female external genitalia morpho... OMIM:613080
Tetanus
Bradycardia, Abdominal pain, Hypertension, Elevated urinary epinephrine level, Elevated circulati... ORPHA:3299
Hydroxykynureninuria
Metabolic acidosis, Renal tubular acidosis, Stomatitis, Abnormal circulating tryptophan concentra... ORPHA:79155
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Lactic acidosis, Diarrhea, Proximal tubulopathy, Gait ataxia, Vomiting, Feeding difficulties, Pro... OMIM:612075
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lactic acidosis, Elevated lactate:pyruvate ratio, Metabolic acidosis, Elevated urinary 4-hydroxyb... OMIM:619003
Fg Syndrome Type 1
Hypospadias, Gastroesophageal reflux, Small pituitary gland, Abnormal social behavior, High palat... ORPHA:93932
Mitochondrial Complex I Deficiency, Nuclear Type 15
Irritability, Metabolic acidosis, Hypertrophic cardiomyopathy, Increased circulating lactate conc... OMIM:618237
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Gastroesophageal reflux, Glomerular sclerosis, Diarrhea, Emotional labil... OMIM:223900
Trisomy 18P
Pyloric stenosis, High, narrow palate, Bilateral cryptorchidism ORPHA:1715
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Gastrointestinal hemorrhage, Congestive heart failure, Persistent fetal ci... ORPHA:363705
Short Chain Acyl-Coa Dehydrogenase Deficiency
Metabolic acidosis, Cardiomyopathy, Ethylmalonic aciduria, Increased level of methylsuccinic acid... ORPHA:26792
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Hypertension, Type II diabetes mellitus ORPHA:71529
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Mgat2-Cdg
Hydrops fetalis, Gastroparesis, Gastroesophageal reflux, Reflex asystolic syncope, Stereotypical ... ORPHA:79329
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Central Diabetes Insipidus
Polydipsia, Anorexia, Depression, Diarrhea, Dehydration, Hyponatremia, Nocturia, Nausea and vomiting ORPHA:178029
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Respiratory distress, Calf muscle hypertrophy, Triceps weakness, Cardiomyopat... ORPHA:86812
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Hepatomegaly, Metabolic acidosis, Hyperuricemia, Diarrhea, Hypertension, Deh... ORPHA:134
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Percussion myotonia, Myotonia of the upper limb, Cold-sensitive myotonia, Myot... ORPHA:684
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Pulmonary edema, Heart block, Reduced left ventricular ejection fraction, Di... ORPHA:542323
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi... OMIM:600785
Mitochondrial Complex I Deficiency, Nuclear Type 33
Irritability, Lactic acidosis, Metabolic acidosis, Hypospadias, Increased circulating lactate con... OMIM:618253
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Hyperinsulinism Due To Ucp2 Deficiency
Agitation, Hepatomegaly, Tachycardia, Polyphagia, Hypertrophic cardiomyopathy, Increased C-peptid... ORPHA:276556
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Cryptorchidism, Micropenis, Congenital adrenal h... OMIM:202150
Schnitzler Syndrome
Anemia, Increased bone mineral density, Arthritis, Leukocytosis, Splenomegaly ORPHA:37748
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ... ORPHA:171445
47,Xyy Syndrome
Male infertility, Increased serum testosterone level, Hypospadias, Azoospermia, Oligozoospermia, ... ORPHA:8
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia, Inappropriate antidiuretic hormone... ORPHA:100083
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Failure to thrive, Pyloric stenosis, Bilateral cryptorchidism OMIM:616395
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Decreased circ... ORPHA:572333
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Bradycardia, Hypomethioninemia, Acute kidney injury, Metabolic acidosis, Hemolytic-uremic syndrom... OMIM:277400
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Agitation, Aganglionic megacolon, Hypertension, Flexion contracture, Tachycardia, Micropenis, Int... OMIM:613870
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Exercise-induc... OMIM:232800
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Autosomal Dominant Centronuclear Myopathy
Pyloric stenosis, Large for gestational age, Cryptorchidism ORPHA:169189
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention, Irritability, Abnormality of the kidney, Hepatomegaly, Intermittent lactic ... ORPHA:369
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Urinary incontinence, Gastroparesis, Truncal ataxia, Bowel incontinence, Gait ataxia, Choreoathet... OMIM:618877
Prader-Willi Syndrome
Gastroparesis, Impaired temperature sensation, Poor suck, Hypertension, Polyphagia, Vomiting, Att... ORPHA:739
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Lactic acidosis, Metabolic acidosis, Hepatomegaly, Intermittent lactic acidemia, Hy... ORPHA:348
Methanol Poisoning
Metabolic acidosis, Diarrhea, Abdominal pain, Confusion, Hypertension, Hyperlipidemia, Permanent ... ORPHA:31825
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Syringomyelia, Abnormal aortic valve morphology, Dextrocardia, G... ORPHA:261197
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Cardiomyopathy, Hyperammonemia, Dysphagia, Elevated circulating acylcar... ORPHA:26791
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Prolon... OMIM:613327
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Anal atresia, Clitoral hypoplasia, Pyloric stenosis, Elevated circulating fol... OMIM:618419
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula, Tachycardia, Fat malabsorption OMIM:221400
Ziegler-Huang Syndrome
Anterior pituitary hypoplasia, Elevated circulating follicle stimulating hormone level, Hypogonad... OMIM:620501
Pyruvate Dehydrogenase E3 Deficiency
Lactic acidosis, Hepatomegaly, Decreased circulating carnitine concentration, Abnormal cardiac ve... ORPHA:2394
Malonyl-Coa Decarboxylase Deficiency
Lactic acidosis, Metabolic acidosis, Diarrhea, Abdominal pain, Elevated urine suberic acid level,... OMIM:248360
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Mixed respiratory and metabolic acidosis, Myoglobinuria, Hypotension, Elevated circ... OMIM:145600
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Lactic acidosis, Metabolic acidosis, Reduced left ventricular ejection ... OMIM:614096
Xp21 Deletion Syndrome
Recurrent otitis media, Calf muscle hypertrophy, Decreased muscle mass, Increased muscle fatiguab... ORPHA:261476
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati... OMIM:619747
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Scorpion Envenomation
Prominent U wave, Mixed respiratory and metabolic acidosis, Hypertension, Premature ventricular c... ORPHA:466677
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Agitation, Hepatomegaly, Tachycardia, Polyphagia, Hypertrophic cardiomyopathy, Increased C-peptid... ORPHA:276575
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Decreased glomerular filtration rate, Hypertension, Epistaxis, Oliguria, Elevated ci... ORPHA:340
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Splenomegaly, Hepatic failure ORPHA:664
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abdominal distention, Abnormality of the gastrointestinal tract, Lactic acidosis, Dementia, Gastr... ORPHA:298
Microvillus Inclusion Disease
Abdominal distention, Metabolic acidosis, Diarrhea, Dehydration, Hypovolemia, Abnormal small inte... ORPHA:2290
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Hypertension,... ORPHA:280356
Combined Oxidative Phosphorylation Deficiency 54
Elevated lactate:pyruvate ratio, Memory impairment, Increased circulating lactate concentration, ... OMIM:619737
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Lactic acidosis, Wolff-Parkinson-White syndrome, Episodic vomiting, Dem... OMIM:540000
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hypertriglyceridemia, Decreased H... ORPHA:280365
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Congenital-Onset Steinert Myotonic Dystrophy
Encopresis, Gastroesophageal reflux, Diarrhea, Decreased body weight, Constipation, Obesity, Myot... ORPHA:589821
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Increased muscle fatiguability OMIM:618250
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lactic acidosis, Metabolic acidosis, Hypertrophic cardiomyopathy, Increased circulating lactate c... OMIM:618228
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Intestinal pseudo-obstruction, Gastroparesis, Bruxism, Type 1 muscle fiber a... ORPHA:453504
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Intestinal pseudo-obstruction, Gastroparesis, Bruxism, Type 1 muscle fiber a... ORPHA:352665
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Lactic acidosis, Metabolic acidosis, Hepatomegaly, Increased serum pyru... OMIM:246900
Myopathy, Centronuclear, X-Linked
Pyloric stenosis, Cryptorchidism, High palate OMIM:310400
Chops Syndrome
High, narrow palate, Gastroparesis, Gastroesophageal reflux, Vesicoureteral reflux, Constipation,... OMIM:616368
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Metabolic acidosis, Episodic vomiting, Ataxia, Feeding difficulties OMIM:618224
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Feb... OMIM:618010
49,Xyyyy Syndrome
Increased circulating gonadotropin level, External genital hypoplasia, Azoospermia, Abnormality o... ORPHA:99330
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Left atrial enlargement, Cardiomyopathy, Decreased muscle glycogen ... OMIM:611556
Carnitine-Acylcarnitine Translocase Deficiency
Irritability, Dicarboxylic aciduria, Hepatomegaly, Bradycardia, Cardiomyopathy, Cardiac arrest, P... OMIM:212138
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Zellweger Syndrome
Clitoral hypertrophy, Hypospadias, High palate, Pyloric stenosis, Failure to thrive, Primary adre... ORPHA:912
Florid Cemento-Osseous Dysplasia
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... ORPHA:83451
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Agitation, Hepatomegaly, Tachycardia, Polyphagia, Hypertrophic cardiomyopathy, Increased C-peptid... ORPHA:276580
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the ... ORPHA:206546
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Irritability, Lactic acidosis, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormal... OMIM:609560
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Corticosteroid-Binding Globulin Deficiency
Increased muscle fatiguability OMIM:611489
Galactosemia I
Decreased liver function, Increased level of galactitol in red blood cells, Hepatomegaly, Metabol... OMIM:230400
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Lactic acidosis, Metabolic acidosis, Wolff-Parkinson-White syndrome, He... OMIM:618234
Hyperinsulinism Due To Hnf1A Deficiency
Agitation, Hepatomegaly, Tachycardia, Polyphagia, Increased C-peptide level, Feeding difficulties... ORPHA:324575
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Agitation, Lactic acidosis, Metabolic acidosis, Increased serum pyruvate, Cardiomyopathy, Hyperal... OMIM:619046
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Seizure, Myoclonus OMIM:615924
Dihydropyrimidinase Deficiency
Uraciluria, Metabolic acidosis, Elevated urinary dihydrothymine level, Hyperactivity, Elevated ur... OMIM:222748
Pituitary Adenoma 1, Multiple Types
Increased circulating prolactin concentration, Pituitary growth hormone cell adenoma, Pituitary p... OMIM:102200
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Lipoyltransferase 1 Deficiency
Decreased liver function, Lactic acidosis, Bradycardia, Pulmonary arterial hypertension, Increase... OMIM:616299
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Metabolic acidosis, Prolonged QT interval, Hypocalcemia, Hypoproteinemia, Increased... ORPHA:26793
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Myopathy, Exercise-induced muscle fatigue ORPHA:713
Sengers Syndrome
3-Methylglutaconic aciduria, Lactic acidosis, Cardiac arrest, Pulmonary arterial hypertension, In... OMIM:212350
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Senior-Boichis Syndrome
Polydipsia, Tubular luminal dilatation, Hypertension, Ascites, Abnormal renal insterstitial morph... ORPHA:84081
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Ectopic anus, Polycystic ovaries, Decreased fertility, Hypogonadotropic hyp... ORPHA:1643
Ochoa Syndrome
Polydipsia, Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Hyper... ORPHA:2704
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Hypoxemia, Abnormal mitral valve morpholo... ORPHA:860
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Irritability, Episodic vomiting, Diarrhea, Chorea, Increased circulating lactate concentration, V... OMIM:618321
Renal Hypoplasia
Polydipsia, Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract ... ORPHA:93101
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Hand muscle weakness, Hand muscle atrophy, Weakness of facial musculature, Abn... OMIM:607641
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Metabolic acidosis, Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperech... OMIM:611555
Esophageal Atresia
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Respirato... ORPHA:1199
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Methylmalonyl-Coa Epimerase Deficiency
Metabolic acidosis, Gastroesophageal reflux, Hyperhomocystinemia, Elevated circulating palmitoley... OMIM:251120
Juvenile Nephropathic Cystinosis
Polydipsia, Proximal tubulopathy, Renal Fanconi syndrome, Hypophosphatemia, Elevated circulating ... ORPHA:411634
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Limb ataxia, Lactic acidosis, Metabolic acidosis, Truncal ataxia, Hyperalaninemia, Pulmonary arte... OMIM:619051
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Increased circulati... OMIM:617070
Marden-Walker Syndrome
High, narrow palate, Hypospadias, High palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison ... OMIM:248700
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Obsessive-compulsive trait, Abnormal temper tantrums, Gastroparesis, Impaired temperature sensati... ORPHA:98793
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Hepatomegaly, Metabolic acidosis, Elevated circul... ORPHA:90051
Ménétrier Disease
Anorexia, Peripheral edema, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer,... ORPHA:2494
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Lactic acidosis, Hepatomegaly, Decreased circulating carnitine... OMIM:500009